Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 2 110902136 110902136 + Missense_Mutation SNP G G A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr2:110902136G>A c.1528C>T c.(1528-1530)Ctt>Ttt p.L510F ACC 2 110962528 110962528 + Silent SNP C C T TCGA-OR-A5LB-01A-11D-A29I-10 TCGA-OR-A5LB-10A-01D-A29L-10 g.chr2:110962528C>T c.18G>A c.(16-18)caG>caA p.Q6Q BLCA 2 110881373 110881373 + Missense_Mutation SNP C C A TCGA-UY-A9PD-01A-11D-A38G-08 TCGA-UY-A9PD-10A-01D-A38J-08 g.chr2:110881373C>A c.2194G>T c.(2194-2196)Gtg>Ttg p.V732L BLCA 2 110881615 110881615 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 g.chr2:110881615G>C c.1952C>G c.(1951-1953)aCg>aGg p.T651R BLCA 2 110889272 110889272 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr2:110889272C>G c.1791G>C c.(1789-1791)atG>atC p.M597I BLCA 2 110889358 110889358 + Missense_Mutation SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr2:110889358C>T c.1705G>A c.(1705-1707)Gaa>Aaa p.E569K BLCA 2 110922154 110922154 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 g.chr2:110922154C>A c.882G>T c.(880-882)agG>agT p.R294S BLCA 2 110922195 110922195 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr2:110922195C>G c.841G>C c.(841-843)Gag>Cag p.E281Q BLCA 2 110922263 110922263 + Missense_Mutation SNP G G A TCGA-E7-A6MF-01A-12D-A32B-08 TCGA-E7-A6MF-10B-01D-A329-08 g.chr2:110922263G>A c.773C>T c.(772-774)gCg>gTg p.A258V BLCA 2 110927479 110927479 + Missense_Mutation SNP C C A TCGA-FJ-A3Z9-01A-11D-A26M-08 TCGA-FJ-A3Z9-10A-01D-A26K-08 g.chr2:110927479C>A c.426G>T c.(424-426)gaG>gaT p.E142D BRCA 2 110889333 110889333 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 g.chr2:110889333G>A c.1730C>T c.(1729-1731)tCt>tTt p.S577F BRCA 2 110902119 110902119 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr2:110902119A>G c.1545T>C c.(1543-1545)ggT>ggC p.G515G BRCA 2 110905498 110905498 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:110905498G>A c.1429C>T c.(1429-1431)Cgc>Tgc p.R477C BRCA 2 110917730 110917730 + Missense_Mutation SNP G G A TCGA-B6-A0IK-01A-12W-A071-09 TCGA-B6-A0IK-10A-01W-A071-09 g.chr2:110917730G>A c.1222C>T c.(1222-1224)Cgc>Tgc p.R408C BRCA 2 110919222 110919222 + Silent SNP T T C TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr2:110919222T>C c.1077A>G c.(1075-1077)caA>caG p.Q359Q BRCA 2 110926098 110926098 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr2:110926098delT c.555delA c.(553-555)aaafs p.K185fs CESC 2 110881535 110881535 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr2:110881535C>G c.2032G>C c.(2032-2034)Gag>Cag p.E678Q CESC 2 110922134 110922134 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr2:110922134C>G c.902G>C c.(901-903)aGa>aCa p.R301T COAD 2 110889315 110889315 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:110889315A>C c.1748T>G c.(1747-1749)tTt>tGt p.F583C COAD 2 110902131 110902131 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:110902131G>T c.1533C>A c.(1531-1533)ttC>ttA p.F511L COAD 2 110917718 110917718 + Missense_Mutation SNP A A G TCGA-AA-A00U-01A-01W-A005-10 TCGA-AA-A00U-10A-01W-A005-10 g.chr2:110917718A>G c.1234T>C c.(1234-1236)Ttt>Ctt p.F412L COAD 2 110919254 110919254 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:110919254A>G c.1045T>C c.(1045-1047)Tac>Cac p.Y349H COAD 2 110922274 110922274 + Silent SNP C C T TCGA-AA-3973-01A-01W-0995-10 TCGA-AA-3973-10A-01W-0999-10 g.chr2:110922274C>T c.762G>A c.(760-762)gcG>gcA p.A254A COAD 2 110922733 110922733 + Splice_Site SNP C C T TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr2:110922733C>T c.e7-1 COAD 2 110926098 110926098 + Frame_Shift_Del DEL T T - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr2:110926098delT c.555delA c.(553-555)aaafs p.K185fs COAD 2 110927435 110927435 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:110927435T>C c.470A>G c.(469-471)tAc>tGc p.Y157C COAD 2 110962477 110962477 + Splice_Site SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:110962477C>A c.69G>T c.(67-69)caG>caT p.Q23H COAD 2 110962482 110962482 + Nonsense_Mutation SNP G G A TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr2:110962482G>A c.64C>T c.(64-66)Caa>Taa p.Q22* COADREAD 2 110889315 110889315 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:110889315A>C c.1748T>G c.(1747-1749)tTt>tGt p.F583C COADREAD 2 110902131 110902131 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:110902131G>T c.1533C>A c.(1531-1533)ttC>ttA p.F511L COADREAD 2 110917718 110917718 + Missense_Mutation SNP A A G TCGA-AA-A00U-01A-01W-A005-10 TCGA-AA-A00U-10A-01W-A005-10 g.chr2:110917718A>G c.1234T>C c.(1234-1236)Ttt>Ctt p.F412L COADREAD 2 110919254 110919254 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:110919254A>G c.1045T>C c.(1045-1047)Tac>Cac p.Y349H COADREAD 2 110922274 110922274 + Silent SNP C C T TCGA-AA-3973-01A-01W-0995-10 TCGA-AA-3973-10A-01W-0999-10 g.chr2:110922274C>T c.762G>A c.(760-762)gcG>gcA p.A254A COADREAD 2 110922733 110922733 + Splice_Site SNP C C T TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr2:110922733C>T c.e7-1 COADREAD 2 110926031 110926031 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:110926031C>A c.622G>T c.(622-624)Gag>Tag p.E208* COADREAD 2 110926098 110926098 + Frame_Shift_Del DEL T T - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr2:110926098delT c.555delA c.(553-555)aaafs p.K185fs COADREAD 2 110927435 110927435 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:110927435T>C c.470A>G c.(469-471)tAc>tGc p.Y157C COADREAD 2 110962477 110962477 + Splice_Site SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:110962477C>A c.69G>T c.(67-69)caG>caT p.Q23H COADREAD 2 110962482 110962482 + Nonsense_Mutation SNP G G A TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr2:110962482G>A c.64C>T c.(64-66)Caa>Taa p.Q22* ESCA 2 110881594 110881594 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr2:110881594T>C c.1973A>G c.(1972-1974)gAc>gGc p.D658G ESCA 2 110962506 110962506 + Missense_Mutation SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 g.chr2:110962506G>A c.40C>T c.(40-42)Cgg>Tgg p.R14W GBM 2 110922207 110922207 + Nonsense_Mutation SNP G G A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 g.chr2:110922207G>A c.829C>T c.(829-831)Cga>Tga p.R277* GBMLGG 2 110904384 110904384 + Missense_Mutation SNP C C T TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 g.chr2:110904384C>T c.1463G>A c.(1462-1464)tGt>tAt p.C488Y GBMLGG 2 110907762 110907762 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:110907762G>T c.1320C>A c.(1318-1320)ccC>ccA p.P440P GBMLGG 2 110922207 110922207 + Nonsense_Mutation SNP G G A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 g.chr2:110922207G>A c.829C>T c.(829-831)Cga>Tga p.R277* HNSC 2 110905498 110905498 + Missense_Mutation SNP G G A TCGA-D6-A6ES-01A-12D-A31L-08 TCGA-D6-A6ES-10A-01D-A31J-08 g.chr2:110905498G>A c.1429C>T c.(1429-1431)Cgc>Tgc p.R477C HNSC 2 110917743 110917743 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr2:110917743G>A c.1209C>T c.(1207-1209)ctC>ctT p.L403L HNSC 2 110927450 110927450 + Nonsense_Mutation SNP G G T TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr2:110927450G>T c.455C>A c.(454-456)tCa>tAa p.S152* HNSC 2 110962526 110962526 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 g.chr2:110962526C>A c.20G>T c.(19-21)cGa>cTa p.R7L KIPAN 2 110919218 110919218 + Missense_Mutation SNP C C T TCGA-BP-4998-01A-01D-1462-08 TCGA-BP-4998-11A-01D-1462-08 g.chr2:110919218C>T c.1081G>A c.(1081-1083)Gcc>Acc p.A361T KIPAN 2 110922107 110922107 + Frame_Shift_Del DEL G G - TCGA-B0-4710-01A-01D-1501-10 TCGA-B0-4710-11A-02D-1501-10 g.chr2:110922107delG c.929delC c.(928-930)cctfs p.P310fs KIPAN 2 110922202 110922202 + Missense_Mutation SNP A A T TCGA-MH-A55W-01A-11D-A26P-10 TCGA-MH-A55W-10A-01D-A26P-10 g.chr2:110922202A>T c.834T>A c.(832-834)aaT>aaA p.N278K KIPAN 2 110922222 110922222 + Missense_Mutation SNP G G T TCGA-CW-6090-01A-11D-1669-08 TCGA-CW-6090-11A-01D-1669-08 g.chr2:110922222G>T c.814C>A c.(814-816)Cta>Ata p.L272I KIPAN 2 110926096 110926096 + Missense_Mutation SNP G G T TCGA-BP-5198-01A-01D-1429-08 TCGA-BP-5198-11A-01D-1429-08 g.chr2:110926096G>T c.557C>A c.(556-558)cCt>cAt p.P186H KIRC 2 110919218 110919218 + Missense_Mutation SNP C C T TCGA-BP-4998-01A-01D-1462-08 TCGA-BP-4998-11A-01D-1462-08 g.chr2:110919218C>T c.1081G>A c.(1081-1083)Gcc>Acc p.A361T KIRC 2 110922107 110922107 + Frame_Shift_Del DEL G G - TCGA-B0-4710-01A-01D-1501-10 TCGA-B0-4710-11A-02D-1501-10 g.chr2:110922107delG c.929delC c.(928-930)cctfs p.P310fs KIRC 2 110922222 110922222 + Missense_Mutation SNP G G T TCGA-CW-6090-01A-11D-1669-08 TCGA-CW-6090-11A-01D-1669-08 g.chr2:110922222G>T c.814C>A c.(814-816)Cta>Ata p.L272I KIRC 2 110926096 110926096 + Missense_Mutation SNP G G T TCGA-BP-5198-01A-01D-1429-08 TCGA-BP-5198-11A-01D-1429-08 g.chr2:110926096G>T c.557C>A c.(556-558)cCt>cAt p.P186H KIRP 2 110922202 110922202 + Missense_Mutation SNP A A T TCGA-MH-A55W-01A-11D-A26P-10 TCGA-MH-A55W-10A-01D-A26P-10 g.chr2:110922202A>T c.834T>A c.(832-834)aaT>aaA p.N278K LGG 2 110904384 110904384 + Missense_Mutation SNP C C T TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 g.chr2:110904384C>T c.1463G>A c.(1462-1464)tGt>tAt p.C488Y LGG 2 110907762 110907762 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:110907762G>T c.1320C>A c.(1318-1320)ccC>ccA p.P440P LIHC 2 110881425 110881425 + Frame_Shift_Del DEL A A - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr2:110881425delA c.2142delT c.(2140-2142)tttfs p.F714fs LIHC 2 110881571 110881571 + Missense_Mutation SNP A A G TCGA-BC-A10W-01A-11D-A12Z-10 TCGA-BC-A10W-11A-11D-A12Z-10 g.chr2:110881571A>G c.1996T>C c.(1996-1998)Tcc>Ccc p.S666P LIHC 2 110926056 110926056 + Silent SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr2:110926056T>C c.597A>G c.(595-597)gaA>gaG p.E199E LIHC 2 110959033 110959033 + Silent SNP A A G TCGA-G3-A25U-01A-11D-A16V-10 TCGA-G3-A25U-10A-01D-A16V-10 g.chr2:110959033A>G c.108T>C c.(106-108)gcT>gcC p.A36A LUAD 2 110881425 110881425 + Missense_Mutation SNP A A T TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr2:110881425A>T c.2142T>A c.(2140-2142)ttT>ttA p.F714L LUAD 2 110881445 110881445 + Missense_Mutation SNP C C T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr2:110881445C>T c.2122G>A c.(2122-2124)Gac>Aac p.D708N LUAD 2 110881529 110881529 + Missense_Mutation SNP C C G TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr2:110881529C>G c.2038G>C c.(2038-2040)Gag>Cag p.E680Q LUAD 2 110881617 110881625 + In_Frame_Del DEL GGACTTCAG GGACTTCAG - TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chr2:110881617_110881625delGGACTTCAG c.1942_1950delCTGAAGTCC c.(1942-1950)ctgaagtccdel p.LKS648del LUAD 2 110904346 110904346 + Missense_Mutation SNP C C A TCGA-38-6178-01A-11D-1753-08 TCGA-38-6178-10A-01D-1753-08 g.chr2:110904346C>A c.1501G>T c.(1501-1503)Gtt>Ttt p.V501F LUAD 2 110905540 110905540 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 g.chr2:110905540G>C c.1387C>G c.(1387-1389)Cca>Gca p.P463A LUAD 2 110917777 110917777 + Missense_Mutation SNP A A C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 g.chr2:110917777A>C c.1175T>G c.(1174-1176)aTg>aGg p.M392R LUAD 2 110917824 110917824 + Silent SNP C C T TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr2:110917824C>T c.1128G>A c.(1126-1128)tcG>tcA p.S376S LUAD 2 110922275 110922275 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr2:110922275G>T c.761C>A c.(760-762)gCg>gAg p.A254E LUAD 2 110927505 110927505 + Missense_Mutation SNP C C T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr2:110927505C>T c.400G>A c.(400-402)Gaa>Aaa p.E134K LUAD 2 110936014 110936015 + Frame_Shift_Ins INS - - C TCGA-86-7711-01A-11D-2063-08 TCGA-86-7711-10A-01D-2063-08 g.chr2:110936014_110936015insC c.314_315insG c.(313-315)agafs p.R105fs LUAD 2 110962518 110962518 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr2:110962518G>C c.28C>G c.(28-30)Ctc>Gtc p.L10V LUSC 2 110886762 110886762 + Splice_Site SNP C C T TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr2:110886762C>T c.e18+1 LUSC 2 110926116 110926116 + Silent SNP G G T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr2:110926116G>T c.537C>A c.(535-537)ctC>ctA p.L179L OV 2 110922218 110922218 + Missense_Mutation SNP A A C TCGA-04-1367-01A-01W-0492-08 TCGA-04-1367-10A-01W-0492-08 g.chr2:110922218A>C c.818T>G c.(817-819)aTa>aGa p.I273R OV 2 110927403 110927403 + Missense_Mutation SNP C C G TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 g.chr2:110927403C>G c.502G>C c.(502-504)Gtt>Ctt p.V168L PAAD 2 110922260 110922260 + Missense_Mutation SNP C C T TCGA-FB-AAQ2-01A-31D-A40W-08 TCGA-FB-AAQ2-11A-11D-A40W-08 g.chr2:110922260C>T c.776G>A c.(775-777)gGc>gAc p.G259D PAAD 2 110936030 110936030 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:110936030G>T c.299C>A c.(298-300)gCt>gAt p.A100D PRAD 2 110889309 110889309 + Missense_Mutation SNP C C T TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 g.chr2:110889309C>T c.1754G>A c.(1753-1755)cGa>cAa p.R585Q PRAD 2 110922636 110922636 + Nonsense_Mutation SNP T T A TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 g.chr2:110922636T>A c.721A>T c.(721-723)Aag>Tag p.K241* PRAD 2 110936000 110936000 + Splice_Site SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:110936000T>C c.329A>G c.(328-330)gAa>gGa p.E110G READ 2 110926031 110926031 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:110926031C>A c.622G>T c.(622-624)Gag>Tag p.E208* SARC 2 110881436 110881436 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr2:110881436G>A c.2131C>T c.(2131-2133)Cat>Tat p.H711Y SARC 2 110917745 110917745 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 g.chr2:110917745G>A c.1207C>T c.(1207-1209)Ctc>Ttc p.L403F SKCM 2 110881626 110881626 + Silent SNP G G A TCGA-EE-A2A0-06A-11D-A196-08 TCGA-EE-A2A0-10A-01D-A198-08 g.chr2:110881626G>A c.1941C>T c.(1939-1941)ttC>ttT p.F647F SKCM 2 110901148 110901148 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:110901148G>A c.1665C>T c.(1663-1665)tcC>tcT p.S555S SKCM 2 110902115 110902115 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:110902115G>A c.1549C>T c.(1549-1551)Cct>Tct p.P517S SKCM 2 110904336 110904336 + Missense_Mutation SNP G G A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 g.chr2:110904336G>A c.1511C>T c.(1510-1512)cCa>cTa p.P504L SKCM 2 110904405 110904405 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr2:110904405C>T c.1442G>A c.(1441-1443)gGt>gAt p.G481D SKCM 2 110919263 110919263 + Nonsense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr2:110919263G>A c.1036C>T c.(1036-1038)Cga>Tga p.R346* SKCM 2 110922252 110922252 + Missense_Mutation SNP A A T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 g.chr2:110922252A>T c.784T>A c.(784-786)Tgt>Agt p.C262S SKCM 2 110922644 110922644 + Missense_Mutation SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr2:110922644G>T c.713C>A c.(712-714)gCa>gAa p.A238E SKCM 2 110926051 110926051 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:110926051A>C c.602T>G c.(601-603)cTt>cGt p.L201R SKCM 2 110936067 110936067 + Missense_Mutation SNP G G A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 g.chr2:110936067G>A c.262C>T c.(262-264)Ctt>Ttt p.L88F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 2 110881615 110881615 single base substitution G C downstream_gene_variant BLCA-US 2 110881615 110881615 single base substitution G C exon_variant BLCA-US 2 110881615 110881615 single base substitution G C missense_variant T533R 1598C>G BLCA-US 2 110881615 110881615 single base substitution G C missense_variant T596R 1787C>G BLCA-US 2 110881615 110881615 single base substitution G C missense_variant T630R 1889C>G BLCA-US 2 110881615 110881615 single base substitution G C missense_variant T651R 1952C>G BLCA-US 2 110881615 110881615 single base substitution G C missense_variant T652R 1955C>G BOCA-FR 2 110884481 110884481 single base substitution C A downstream_gene_variant BOCA-FR 2 110884481 110884481 single base substitution C A exon_variant BOCA-FR 2 110884481 110884481 single base substitution C A intron_variant BOCA-FR 2 110927029 110927029 single base substitution G T intron_variant BRCA-EU 2 110875286 110875286 single base substitution G C downstream_gene_variant BRCA-EU 2 110877976 110877976 single base substitution G A downstream_gene_variant BRCA-EU 2 110878247 110878247 single base substitution C T downstream_gene_variant BRCA-EU 2 110879058 110879058 single base substitution T C downstream_gene_variant BRCA-EU 2 110879481 110879481 single base substitution G A downstream_gene_variant BRCA-EU 2 110880331 110880331 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 2 110880331 110880331 insertion of <=200bp - A downstream_gene_variant BRCA-EU 2 110881922 110881922 single base substitution C G downstream_gene_variant BRCA-EU 2 110881922 110881922 single base substitution C G exon_variant BRCA-EU 2 110881922 110881922 single base substitution C G intron_variant BRCA-EU 2 110882378 110882378 single base substitution T C downstream_gene_variant BRCA-EU 2 110882378 110882378 single base substitution T C exon_variant BRCA-EU 2 110882378 110882378 single base substitution T C intron_variant BRCA-EU 2 110882404 110882404 single base substitution T C downstream_gene_variant BRCA-EU 2 110882404 110882404 single base substitution T C exon_variant BRCA-EU 2 110882404 110882404 single base substitution T C intron_variant BRCA-EU 2 110884246 110884246 single base substitution C G downstream_gene_variant BRCA-EU 2 110884246 110884246 single base substitution C G exon_variant BRCA-EU 2 110884246 110884246 single base substitution C G intron_variant BRCA-EU 2 110888786 110888786 single base substitution T C intron_variant BRCA-EU 2 110888786 110888786 single base substitution T C upstream_gene_variant BRCA-EU 2 110889107 110889107 single base substitution C G intron_variant BRCA-EU 2 110889107 110889107 single base substitution C G upstream_gene_variant BRCA-EU 2 110890254 110890254 single base substitution G T intron_variant BRCA-EU 2 110890254 110890254 single base substitution G T upstream_gene_variant BRCA-EU 2 110890507 110890507 single base substitution G A intron_variant BRCA-EU 2 110890507 110890507 single base substitution G A upstream_gene_variant BRCA-EU 2 110890526 110890526 single base substitution T A intron_variant BRCA-EU 2 110890526 110890526 single base substitution T A upstream_gene_variant BRCA-EU 2 110891136 110891136 single base substitution C A intron_variant BRCA-EU 2 110891136 110891136 single base substitution C A upstream_gene_variant BRCA-EU 2 110892273 110892274 deletion of <=200bp AA - intron_variant BRCA-EU 2 110892339 110892339 single base substitution G C intron_variant BRCA-EU 2 110895279 110895279 insertion of <=200bp - T intron_variant BRCA-EU 2 110896111 110896111 single base substitution C T intron_variant BRCA-EU 2 110896910 110896910 single base substitution C T intron_variant BRCA-EU 2 110897459 110897462 deletion of <=200bp TTTC - intron_variant BRCA-EU 2 110898548 110898548 single base substitution C A intron_variant BRCA-EU 2 110898890 110898891 deletion of <=200bp CA - intron_variant BRCA-EU 2 110899654 110899654 single base substitution T A intron_variant BRCA-EU 2 110900003 110900003 single base substitution C T intron_variant BRCA-EU 2 110902097 110902097 single base substitution C T exon_variant BRCA-EU 2 110902097 110902097 single base substitution C T missense_variant E405K 1213G>A BRCA-EU 2 110902097 110902097 single base substitution C T missense_variant E467K 1399G>A BRCA-EU 2 110902097 110902097 single base substitution C T missense_variant E468K 1402G>A BRCA-EU 2 110902097 110902097 single base substitution C T missense_variant E523K 1567G>A BRCA-EU 2 110902097 110902097 single base substitution C T missense_variant E524K 1570G>A BRCA-EU 2 110902469 110902469 deletion of <=200bp T - intron_variant BRCA-EU 2 110902469 110902469 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 110905998 110905998 single base substitution C G intron_variant BRCA-EU 2 110905998 110905998 single base substitution C G upstream_gene_variant BRCA-EU 2 110906736 110906736 single base substitution C T intron_variant BRCA-EU 2 110906736 110906736 single base substitution C T upstream_gene_variant BRCA-EU 2 110907629 110907629 single base substitution A C intron_variant BRCA-EU 2 110909367 110909367 single base substitution A C intron_variant BRCA-EU 2 110910668 110910668 single base substitution G A intron_variant BRCA-EU 2 110913534 110913534 single base substitution G A intron_variant BRCA-EU 2 110914136 110914155 deletion of <=200bp GACTAAAGGCTTGAGGCTCC - intron_variant BRCA-EU 2 110914341 110914341 single base substitution A G intron_variant BRCA-EU 2 110916278 110916278 single base substitution T C intron_variant BRCA-EU 2 110917922 110917922 single base substitution C T intron_variant BRCA-EU 2 110918657 110918657 single base substitution C T intron_variant BRCA-EU 2 110919819 110919819 single base substitution G C intron_variant BRCA-EU 2 110919832 110919832 single base substitution G C intron_variant BRCA-EU 2 110920617 110920617 single base substitution C T splice_region_variant BRCA-EU 2 110921072 110921072 deletion of <=200bp T - exon_variant BRCA-EU 2 110921072 110921072 deletion of <=200bp T - intron_variant BRCA-EU 2 110921501 110921501 single base substitution G T exon_variant BRCA-EU 2 110921501 110921501 single base substitution G T intron_variant BRCA-EU 2 110921919 110921919 single base substitution C G exon_variant BRCA-EU 2 110921919 110921919 single base substitution C G intron_variant BRCA-EU 2 110922666 110922666 single base substitution C A exon_variant BRCA-EU 2 110922666 110922666 single base substitution C A missense_variant V169L 505G>T BRCA-EU 2 110922666 110922666 single base substitution C A missense_variant V231L 691G>T BRCA-EU 2 110922667 110922667 single base substitution C A exon_variant BRCA-EU 2 110922667 110922667 single base substitution C A synonymous_variant A168A 504G>T BRCA-EU 2 110922667 110922667 single base substitution C A synonymous_variant A230A 690G>T BRCA-EU 2 110922735 110922735 deletion of <=200bp A - splice_region_variant BRCA-EU 2 110924093 110924093 single base substitution C T intron_variant BRCA-EU 2 110925239 110925239 single base substitution G A intron_variant BRCA-EU 2 110925379 110925379 single base substitution C G intron_variant BRCA-EU 2 110925399 110925399 single base substitution C A intron_variant BRCA-EU 2 110925586 110925586 single base substitution G C intron_variant BRCA-EU 2 110926147 110926147 single base substitution G T intron_variant BRCA-EU 2 110926356 110926356 single base substitution G A intron_variant BRCA-EU 2 110927231 110927231 single base substitution C G intron_variant BRCA-EU 2 110927232 110927232 single base substitution T G intron_variant BRCA-EU 2 110927485 110927485 single base substitution C T exon_variant BRCA-EU 2 110927485 110927485 single base substitution C T synonymous_variant E140E 420G>A BRCA-EU 2 110927485 110927485 single base substitution C T synonymous_variant E78E 234G>A BRCA-EU 2 110928553 110928553 single base substitution G A intron_variant BRCA-EU 2 110929746 110929746 single base substitution A C intron_variant BRCA-EU 2 110930881 110930882 deletion of <=200bp AT - downstream_gene_variant BRCA-EU 2 110930881 110930882 deletion of <=200bp AT - intron_variant BRCA-EU 2 110931840 110931840 single base substitution C A downstream_gene_variant BRCA-EU 2 110931840 110931840 single base substitution C A intron_variant BRCA-EU 2 110932317 110932317 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 110932317 110932317 deletion of <=200bp T - intron_variant BRCA-EU 2 110932648 110932648 single base substitution A G downstream_gene_variant BRCA-EU 2 110932648 110932648 single base substitution A G intron_variant BRCA-EU 2 110933162 110933162 single base substitution C T downstream_gene_variant BRCA-EU 2 110933162 110933162 single base substitution C T intron_variant BRCA-EU 2 110934082 110934082 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 110934082 110934082 deletion of <=200bp T - intron_variant BRCA-EU 2 110937475 110937475 single base substitution G A intron_variant BRCA-EU 2 110937944 110937944 single base substitution T C intron_variant BRCA-EU 2 110938582 110938582 single base substitution G A intron_variant BRCA-EU 2 110938824 110938824 single base substitution G A intron_variant BRCA-EU 2 110939960 110939960 single base substitution G A intron_variant BRCA-EU 2 110941514 110941514 single base substitution G T intron_variant BRCA-EU 2 110942054 110942054 single base substitution T C intron_variant BRCA-EU 2 110942713 110942713 single base substitution A T intron_variant BRCA-EU 2 110945327 110945327 single base substitution C T intron_variant BRCA-EU 2 110945537 110945537 single base substitution C G intron_variant BRCA-EU 2 110946095 110946095 insertion of <=200bp - A intron_variant BRCA-EU 2 110947563 110947563 single base substitution G C intron_variant BRCA-EU 2 110949264 110949264 single base substitution C G intron_variant BRCA-EU 2 110950687 110950687 single base substitution A C intron_variant BRCA-EU 2 110950787 110950787 single base substitution G T intron_variant BRCA-EU 2 110951837 110951837 single base substitution C A intron_variant BRCA-EU 2 110952497 110952497 single base substitution C T intron_variant BRCA-EU 2 110952845 110952845 single base substitution C T intron_variant BRCA-EU 2 110953250 110953259 multiple base substitution (>=2bp and <=200bp) CAAAAAAGAG CCTAA intron_variant BRCA-EU 2 110953261 110953261 single base substitution C T intron_variant BRCA-EU 2 110954413 110954413 single base substitution G T intron_variant BRCA-EU 2 110955113 110955113 single base substitution C G intron_variant BRCA-EU 2 110957418 110957418 single base substitution G C intron_variant BRCA-EU 2 110959217 110959217 single base substitution C T intron_variant BRCA-EU 2 110959258 110959258 deletion of <=200bp G - intron_variant BRCA-EU 2 110959538 110959538 single base substitution G A intron_variant BRCA-EU 2 110962620 110962620 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 2 110962620 110962620 single base substitution G A upstream_gene_variant BRCA-EU 2 110963666 110963666 single base substitution G A upstream_gene_variant BRCA-EU 2 110964206 110964206 insertion of <=200bp - A upstream_gene_variant BRCA-EU 2 110964315 110964315 insertion of <=200bp - C upstream_gene_variant BRCA-EU 2 110964802 110964802 single base substitution A C upstream_gene_variant BRCA-EU 2 110964940 110964940 single base substitution A G upstream_gene_variant BRCA-FR 2 110881922 110881922 single base substitution C G downstream_gene_variant BRCA-FR 2 110881922 110881922 single base substitution C G exon_variant BRCA-FR 2 110881922 110881922 single base substitution C G intron_variant BRCA-FR 2 110895406 110895406 single base substitution A G intron_variant BRCA-FR 2 110902097 110902097 single base substitution C T exon_variant BRCA-FR 2 110902097 110902097 single base substitution C T missense_variant E405K 1213G>A BRCA-FR 2 110902097 110902097 single base substitution C T missense_variant E467K 1399G>A BRCA-FR 2 110902097 110902097 single base substitution C T missense_variant E468K 1402G>A BRCA-FR 2 110902097 110902097 single base substitution C T missense_variant E523K 1567G>A BRCA-FR 2 110902097 110902097 single base substitution C T missense_variant E524K 1570G>A BRCA-FR 2 110905800 110905800 single base substitution C T intron_variant BRCA-FR 2 110905800 110905800 single base substitution C T upstream_gene_variant BRCA-FR 2 110916411 110916411 single base substitution C A intron_variant BRCA-FR 2 110918657 110918657 single base substitution C T intron_variant BRCA-FR 2 110919819 110919819 single base substitution G C intron_variant BRCA-FR 2 110925239 110925239 single base substitution G A intron_variant BRCA-FR 2 110925586 110925586 single base substitution G C intron_variant BRCA-FR 2 110928553 110928553 single base substitution G A intron_variant BRCA-FR 2 110935024 110935024 single base substitution G C downstream_gene_variant BRCA-FR 2 110935024 110935024 single base substitution G C intron_variant BRCA-FR 2 110943179 110943179 single base substitution C G intron_variant BRCA-FR 2 110953261 110953261 single base substitution C T intron_variant BRCA-FR 2 110964940 110964940 single base substitution A G upstream_gene_variant BRCA-UK 2 110920306 110920306 single base substitution G C intron_variant BRCA-UK 2 110921919 110921919 single base substitution C G exon_variant BRCA-UK 2 110921919 110921919 single base substitution C G intron_variant BRCA-UK 2 110937944 110937944 single base substitution T C intron_variant BRCA-US 2 110889333 110889333 single base substitution G A exon_variant BRCA-US 2 110889333 110889333 single base substitution G A missense_variant S459F 1376C>T BRCA-US 2 110889333 110889333 single base substitution G A missense_variant S521F 1562C>T BRCA-US 2 110889333 110889333 single base substitution G A missense_variant S522F 1565C>T BRCA-US 2 110889333 110889333 single base substitution G A missense_variant S577F 1730C>T BRCA-US 2 110889333 110889333 single base substitution G A missense_variant S578F 1733C>T BRCA-US 2 110889333 110889333 single base substitution G A upstream_gene_variant BRCA-US 2 110902119 110902119 single base substitution A G exon_variant BRCA-US 2 110902119 110902119 single base substitution A G synonymous_variant G397G 1191T>C BRCA-US 2 110902119 110902119 single base substitution A G synonymous_variant G459G 1377T>C BRCA-US 2 110902119 110902119 single base substitution A G synonymous_variant G460G 1380T>C BRCA-US 2 110902119 110902119 single base substitution A G synonymous_variant G515G 1545T>C BRCA-US 2 110902119 110902119 single base substitution A G synonymous_variant G516G 1548T>C BRCA-US 2 110905498 110905498 single base substitution G A exon_variant BRCA-US 2 110905498 110905498 single base substitution G A missense_variant R359C 1075C>T BRCA-US 2 110905498 110905498 single base substitution G A missense_variant R421C 1261C>T BRCA-US 2 110905498 110905498 single base substitution G A missense_variant R422C 1264C>T BRCA-US 2 110905498 110905498 single base substitution G A missense_variant R477C 1429C>T BRCA-US 2 110905498 110905498 single base substitution G A missense_variant R478C 1432C>T BRCA-US 2 110905498 110905498 single base substitution G A upstream_gene_variant BRCA-US 2 110917730 110917730 single base substitution G A exon_variant BRCA-US 2 110917730 110917730 single base substitution G A missense_variant R290C 868C>T BRCA-US 2 110917730 110917730 single base substitution G A missense_variant R352C 1054C>T BRCA-US 2 110917730 110917730 single base substitution G A missense_variant R353C 1057C>T BRCA-US 2 110917730 110917730 single base substitution G A missense_variant R408C 1222C>T BRCA-US 2 110917730 110917730 single base substitution G A missense_variant R409C 1225C>T BRCA-US 2 110919222 110919222 single base substitution T C exon_variant BRCA-US 2 110919222 110919222 single base substitution T C synonymous_variant Q241Q 723A>G BRCA-US 2 110919222 110919222 single base substitution T C synonymous_variant Q303Q 909A>G BRCA-US 2 110919222 110919222 single base substitution T C synonymous_variant Q304Q 912A>G BRCA-US 2 110919222 110919222 single base substitution T C synonymous_variant Q359Q 1077A>G BRCA-US 2 110919222 110919222 single base substitution T C synonymous_variant Q360Q 1080A>G BRCA-US 2 110926098 110926098 deletion of <=200bp T - exon_variant BRCA-US 2 110926098 110926098 deletion of <=200bp T - frameshift_variant K123 BRCA-US 2 110926098 110926098 deletion of <=200bp T - frameshift_variant K185 BTCA-JP 2 110886687 110886687 insertion of <=200bp - GACCAGAT exon_variant BTCA-JP 2 110886687 110886687 insertion of <=200bp - GACCAGAT intron_variant BTCA-JP 2 110889261 110889261 single base substitution C T exon_variant BTCA-JP 2 110889261 110889261 single base substitution C T missense_variant S483N 1448G>A BTCA-JP 2 110889261 110889261 single base substitution C T missense_variant S545N 1634G>A BTCA-JP 2 110889261 110889261 single base substitution C T missense_variant S546N 1637G>A BTCA-JP 2 110889261 110889261 single base substitution C T missense_variant S601N 1802G>A BTCA-JP 2 110889261 110889261 single base substitution C T missense_variant S602N 1805G>A BTCA-JP 2 110889261 110889261 single base substitution C T upstream_gene_variant BTCA-JP 2 110901059 110901059 single base substitution G C intron_variant BTCA-JP 2 110962491 110962491 single base substitution C G exon_variant BTCA-JP 2 110962491 110962491 single base substitution C G missense_variant E19Q 55G>C CESC-US 2 110881535 110881535 single base substitution C G downstream_gene_variant CESC-US 2 110881535 110881535 single base substitution C G exon_variant CESC-US 2 110881535 110881535 single base substitution C G missense_variant E560Q 1678G>C CESC-US 2 110881535 110881535 single base substitution C G missense_variant E623Q 1867G>C CESC-US 2 110881535 110881535 single base substitution C G missense_variant E657Q 1969G>C CESC-US 2 110881535 110881535 single base substitution C G missense_variant E678Q 2032G>C CESC-US 2 110881535 110881535 single base substitution C G missense_variant E679Q 2035G>C CESC-US 2 110922134 110922134 single base substitution C G exon_variant CESC-US 2 110922134 110922134 single base substitution C G intron_variant CESC-US 2 110922134 110922134 single base substitution C G missense_variant R301T 902G>C CLLE-ES 2 110897076 110897076 single base substitution G A intron_variant CLLE-ES 2 110906803 110906803 single base substitution G A intron_variant CLLE-ES 2 110906803 110906803 single base substitution G A upstream_gene_variant CLLE-ES 2 110919224 110919224 single base substitution G T exon_variant CLLE-ES 2 110919224 110919224 single base substitution G T missense_variant Q241K 721C>A CLLE-ES 2 110919224 110919224 single base substitution G T missense_variant Q303K 907C>A CLLE-ES 2 110919224 110919224 single base substitution G T missense_variant Q304K 910C>A CLLE-ES 2 110919224 110919224 single base substitution G T missense_variant Q359K 1075C>A CLLE-ES 2 110919224 110919224 single base substitution G T missense_variant Q360K 1078C>A CLLE-ES 2 110925418 110925418 single base substitution C T intron_variant CLLE-ES 2 110941419 110941419 single base substitution C A intron_variant CLLE-ES 2 110949696 110949696 single base substitution T C intron_variant COAD-US 2 110902131 110902131 single base substitution G T exon_variant COAD-US 2 110902131 110902131 single base substitution G T missense_variant F393L 1179C>A COAD-US 2 110902131 110902131 single base substitution G T missense_variant F455L 1365C>A COAD-US 2 110902131 110902131 single base substitution G T missense_variant F456L 1368C>A COAD-US 2 110902131 110902131 single base substitution G T missense_variant F511L 1533C>A COAD-US 2 110902131 110902131 single base substitution G T missense_variant F512L 1536C>A COAD-US 2 110902131 110902131 single base substitution G T upstream_gene_variant COAD-US 2 110919254 110919254 single base substitution A G exon_variant COAD-US 2 110919254 110919254 single base substitution A G missense_variant Y231H 691T>C COAD-US 2 110919254 110919254 single base substitution A G missense_variant Y293H 877T>C COAD-US 2 110919254 110919254 single base substitution A G missense_variant Y294H 880T>C COAD-US 2 110919254 110919254 single base substitution A G missense_variant Y349H 1045T>C COAD-US 2 110919254 110919254 single base substitution A G missense_variant Y350H 1048T>C COAD-US 2 110922733 110922733 single base substitution C T splice_acceptor_variant COAD-US 2 110962482 110962482 single base substitution G A exon_variant COAD-US 2 110962482 110962482 single base substitution G A stop_gained Q22* 64C>T COCA-CN 2 110883312 110883312 single base substitution A G downstream_gene_variant COCA-CN 2 110883312 110883312 single base substitution A G exon_variant COCA-CN 2 110883312 110883312 single base substitution A G intron_variant COCA-CN 2 110883340 110883340 single base substitution A C downstream_gene_variant COCA-CN 2 110883340 110883340 single base substitution A C exon_variant COCA-CN 2 110883340 110883340 single base substitution A C intron_variant COCA-CN 2 110886780 110886780 single base substitution C T exon_variant COCA-CN 2 110886780 110886780 single base substitution C T missense_variant V19M 55G>A COCA-CN 2 110886780 110886780 single base substitution C T missense_variant V504M 1510G>A COCA-CN 2 110886780 110886780 single base substitution C T missense_variant V566M 1696G>A COCA-CN 2 110886780 110886780 single base substitution C T missense_variant V567M 1699G>A COCA-CN 2 110886780 110886780 single base substitution C T missense_variant V622M 1864G>A COCA-CN 2 110886780 110886780 single base substitution C T missense_variant V623M 1867G>A COCA-CN 2 110902095 110902095 single base substitution T G exon_variant COCA-CN 2 110902095 110902095 single base substitution T G missense_variant E405D 1215A>C COCA-CN 2 110902095 110902095 single base substitution T G missense_variant E467D 1401A>C COCA-CN 2 110902095 110902095 single base substitution T G missense_variant E468D 1404A>C COCA-CN 2 110902095 110902095 single base substitution T G missense_variant E523D 1569A>C COCA-CN 2 110902095 110902095 single base substitution T G missense_variant E524D 1572A>C COCA-CN 2 110905617 110905617 single base substitution G T intron_variant COCA-CN 2 110905617 110905617 single base substitution G T upstream_gene_variant COCA-CN 2 110907650 110907650 single base substitution A G intron_variant COCA-CN 2 110907768 110907768 single base substitution A G exon_variant COCA-CN 2 110907768 110907768 single base substitution A G synonymous_variant F320F 960T>C COCA-CN 2 110907768 110907768 single base substitution A G synonymous_variant F382F 1146T>C COCA-CN 2 110907768 110907768 single base substitution A G synonymous_variant F383F 1149T>C COCA-CN 2 110907768 110907768 single base substitution A G synonymous_variant F438F 1314T>C COCA-CN 2 110907768 110907768 single base substitution A G synonymous_variant F439F 1317T>C COCA-CN 2 110919071 110919071 single base substitution A T intron_variant COCA-CN 2 110920532 110920532 single base substitution C A intron_variant COCA-CN 2 110935867 110935867 single base substitution A G 3_prime_UTR_variant COCA-CN 2 110935867 110935867 single base substitution A G downstream_gene_variant COCA-CN 2 110935867 110935867 single base substitution A G intron_variant COCA-CN 2 110936129 110936129 single base substitution G T downstream_gene_variant COCA-CN 2 110936129 110936129 single base substitution G T intron_variant COCA-CN 2 110936129 110936129 single base substitution G T splice_region_variant COCA-CN 2 110942150 110942150 single base substitution G A intron_variant COCA-CN 2 110959034 110959034 single base substitution G T 3_prime_UTR_variant COCA-CN 2 110959034 110959034 single base substitution G T exon_variant COCA-CN 2 110959034 110959034 single base substitution G T missense_variant A36D 107C>A COCA-CN 2 110959852 110959852 single base substitution G A intron_variant COCA-CN 2 110959876 110959876 single base substitution G T intron_variant EOPC-DE 2 110913503 110913503 single base substitution C G intron_variant ESAD-UK 2 110877744 110877744 single base substitution C T downstream_gene_variant ESAD-UK 2 110881316 110881316 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 110881316 110881316 single base substitution G A downstream_gene_variant ESAD-UK 2 110881316 110881316 single base substitution G A exon_variant ESAD-UK 2 110882114 110882114 single base substitution G T downstream_gene_variant ESAD-UK 2 110882114 110882114 single base substitution G T exon_variant ESAD-UK 2 110882114 110882114 single base substitution G T intron_variant ESAD-UK 2 110885866 110885866 single base substitution G C downstream_gene_variant ESAD-UK 2 110885866 110885866 single base substitution G C exon_variant ESAD-UK 2 110885866 110885866 single base substitution G C intron_variant ESAD-UK 2 110886089 110886089 single base substitution A G downstream_gene_variant ESAD-UK 2 110886089 110886089 single base substitution A G exon_variant ESAD-UK 2 110886089 110886089 single base substitution A G intron_variant ESAD-UK 2 110887316 110887316 single base substitution A G intron_variant ESAD-UK 2 110887316 110887316 single base substitution A G upstream_gene_variant ESAD-UK 2 110890452 110890452 single base substitution C G intron_variant ESAD-UK 2 110890452 110890452 single base substitution C G upstream_gene_variant ESAD-UK 2 110891457 110891457 single base substitution T G intron_variant ESAD-UK 2 110891457 110891457 single base substitution T G upstream_gene_variant ESAD-UK 2 110896227 110896227 single base substitution C T intron_variant ESAD-UK 2 110896750 110896750 deletion of <=200bp A - intron_variant ESAD-UK 2 110897454 110897454 single base substitution G A intron_variant ESAD-UK 2 110898416 110898416 single base substitution C T intron_variant ESAD-UK 2 110898616 110898616 single base substitution C T intron_variant ESAD-UK 2 110899416 110899416 single base substitution G T intron_variant ESAD-UK 2 110904320 110904320 single base substitution G A intron_variant ESAD-UK 2 110904320 110904320 single base substitution G A upstream_gene_variant ESAD-UK 2 110905397 110905397 single base substitution C T intron_variant ESAD-UK 2 110905397 110905397 single base substitution C T upstream_gene_variant ESAD-UK 2 110909067 110909067 single base substitution A G intron_variant ESAD-UK 2 110909269 110909269 single base substitution T G intron_variant ESAD-UK 2 110909557 110909557 single base substitution C G intron_variant ESAD-UK 2 110911789 110911789 single base substitution G A intron_variant ESAD-UK 2 110913138 110913138 single base substitution C T intron_variant ESAD-UK 2 110915294 110915294 single base substitution T C intron_variant ESAD-UK 2 110916836 110916836 single base substitution T C intron_variant ESAD-UK 2 110917005 110917005 single base substitution G T intron_variant ESAD-UK 2 110917823 110917823 single base substitution T G exon_variant ESAD-UK 2 110917823 110917823 single base substitution T G synonymous_variant R259R 775A>C ESAD-UK 2 110917823 110917823 single base substitution T G synonymous_variant R321R 961A>C ESAD-UK 2 110917823 110917823 single base substitution T G synonymous_variant R322R 964A>C ESAD-UK 2 110917823 110917823 single base substitution T G synonymous_variant R377R 1129A>C ESAD-UK 2 110917823 110917823 single base substitution T G synonymous_variant R378R 1132A>C ESAD-UK 2 110918789 110918789 single base substitution G A intron_variant ESAD-UK 2 110921009 110921009 single base substitution G A exon_variant ESAD-UK 2 110921009 110921009 single base substitution G A intron_variant ESAD-UK 2 110921043 110921043 single base substitution C A exon_variant ESAD-UK 2 110921043 110921043 single base substitution C A intron_variant ESAD-UK 2 110924017 110924017 single base substitution G T intron_variant ESAD-UK 2 110924975 110924975 single base substitution A G intron_variant ESAD-UK 2 110925319 110925319 single base substitution C A intron_variant ESAD-UK 2 110926200 110926200 single base substitution A T intron_variant ESAD-UK 2 110933370 110933370 single base substitution C A downstream_gene_variant ESAD-UK 2 110933370 110933370 single base substitution C A intron_variant ESAD-UK 2 110934574 110934574 single base substitution G A downstream_gene_variant ESAD-UK 2 110934574 110934574 single base substitution G A intron_variant ESAD-UK 2 110937115 110937115 single base substitution C T intron_variant ESAD-UK 2 110938957 110938957 single base substitution C T intron_variant ESAD-UK 2 110940273 110940273 single base substitution A C intron_variant ESAD-UK 2 110940725 110940725 single base substitution G T intron_variant ESAD-UK 2 110940870 110940870 single base substitution G A intron_variant ESAD-UK 2 110941148 110941148 single base substitution C A intron_variant ESAD-UK 2 110942666 110942666 single base substitution C T intron_variant ESAD-UK 2 110942691 110942691 single base substitution A C intron_variant ESAD-UK 2 110946470 110946470 single base substitution C T intron_variant ESAD-UK 2 110946511 110946511 single base substitution G A intron_variant ESAD-UK 2 110947365 110947365 insertion of <=200bp - AAAGAGTG intron_variant ESAD-UK 2 110949864 110949864 single base substitution A G intron_variant ESAD-UK 2 110950403 110950403 single base substitution A T intron_variant ESAD-UK 2 110952875 110952875 single base substitution A G intron_variant ESAD-UK 2 110953013 110953013 single base substitution C A intron_variant ESAD-UK 2 110956059 110956059 single base substitution G A intron_variant ESAD-UK 2 110956072 110956072 deletion of <=200bp T - intron_variant ESAD-UK 2 110956172 110956172 insertion of <=200bp - A intron_variant ESAD-UK 2 110956786 110956786 single base substitution G A intron_variant ESAD-UK 2 110957614 110957614 single base substitution T C intron_variant ESAD-UK 2 110959820 110959820 single base substitution T G intron_variant ESAD-UK 2 110962114 110962114 single base substitution G A intron_variant ESAD-UK 2 110964932 110964932 single base substitution C A upstream_gene_variant ESAD-UK 2 110967332 110967332 deletion of <=200bp A - upstream_gene_variant ESCA-CN 2 110919041 110919041 single base substitution A G intron_variant GBM-US 2 110922207 110922207 single base substitution G A exon_variant GBM-US 2 110922207 110922207 single base substitution G A intron_variant GBM-US 2 110922207 110922207 single base substitution G A stop_gained R277* 829C>T KIRC-US 2 110919218 110919218 single base substitution C T exon_variant KIRC-US 2 110919218 110919218 single base substitution C T missense_variant A243T 727G>A KIRC-US 2 110919218 110919218 single base substitution C T missense_variant A305T 913G>A KIRC-US 2 110919218 110919218 single base substitution C T missense_variant A306T 916G>A KIRC-US 2 110919218 110919218 single base substitution C T missense_variant A361T 1081G>A KIRC-US 2 110919218 110919218 single base substitution C T missense_variant A362T 1084G>A KIRC-US 2 110922107 110922107 deletion of <=200bp G - exon_variant KIRC-US 2 110922107 110922107 deletion of <=200bp G - frameshift_variant P310 KIRC-US 2 110922107 110922107 deletion of <=200bp G - intron_variant KIRC-US 2 110922222 110922222 single base substitution G T exon_variant KIRC-US 2 110922222 110922222 single base substitution G T intron_variant KIRC-US 2 110922222 110922222 single base substitution G T missense_variant L272I 814C>A KIRC-US 2 110926096 110926096 single base substitution G T exon_variant KIRC-US 2 110926096 110926096 single base substitution G T missense_variant P124H 371C>A KIRC-US 2 110926096 110926096 single base substitution G T missense_variant P186H 557C>A KIRP-US 2 110922202 110922202 single base substitution A T exon_variant KIRP-US 2 110922202 110922202 single base substitution A T intron_variant KIRP-US 2 110922202 110922202 single base substitution A T missense_variant N278K 834T>A KIRP-US 2 110936067 110936067 single base substitution G A downstream_gene_variant KIRP-US 2 110936067 110936067 single base substitution G A exon_variant KIRP-US 2 110936067 110936067 single base substitution G A intron_variant KIRP-US 2 110936067 110936067 single base substitution G A missense_variant L88F 262C>T LAML-KR 2 110930555 110930555 single base substitution G T intron_variant LAML-KR 2 110942694 110942694 single base substitution T C intron_variant LAML-KR 2 110952657 110952657 single base substitution C T intron_variant LICA-CN 2 110881431 110881431 single base substitution T A downstream_gene_variant LICA-CN 2 110881431 110881431 single base substitution T A exon_variant LICA-CN 2 110881431 110881431 single base substitution T A missense_variant E594D 1782A>T LICA-CN 2 110881431 110881431 single base substitution T A missense_variant E657D 1971A>T LICA-CN 2 110881431 110881431 single base substitution T A missense_variant E691D 2073A>T LICA-CN 2 110881431 110881431 single base substitution T A missense_variant E712D 2136A>T LICA-CN 2 110881431 110881431 single base substitution T A missense_variant E713D 2139A>T LICA-CN 2 110904388 110904388 single base substitution T A exon_variant LICA-CN 2 110904388 110904388 single base substitution T A missense_variant S369C 1105A>T LICA-CN 2 110904388 110904388 single base substitution T A missense_variant S431C 1291A>T LICA-CN 2 110904388 110904388 single base substitution T A missense_variant S432C 1294A>T LICA-CN 2 110904388 110904388 single base substitution T A missense_variant S487C 1459A>T LICA-CN 2 110904388 110904388 single base substitution T A missense_variant S488C 1462A>T LICA-CN 2 110904388 110904388 single base substitution T A upstream_gene_variant LICA-CN 2 110919223 110919223 single base substitution T A exon_variant LICA-CN 2 110919223 110919223 single base substitution T A missense_variant Q241L 722A>T LICA-CN 2 110919223 110919223 single base substitution T A missense_variant Q303L 908A>T LICA-CN 2 110919223 110919223 single base substitution T A missense_variant Q304L 911A>T LICA-CN 2 110919223 110919223 single base substitution T A missense_variant Q359L 1076A>T LICA-CN 2 110919223 110919223 single base substitution T A missense_variant Q360L 1079A>T LICA-CN 2 110922668 110922668 single base substitution G T exon_variant LICA-CN 2 110922668 110922668 single base substitution G T missense_variant A168E 503C>A LICA-CN 2 110922668 110922668 single base substitution G T missense_variant A230E 689C>A LICA-CN 2 110926114 110926114 single base substitution A T exon_variant LICA-CN 2 110926114 110926114 single base substitution A T missense_variant L118H 353T>A LICA-CN 2 110926114 110926114 single base substitution A T missense_variant L180H 539T>A LICA-FR 2 110875200 110875203 deletion of <=200bp GTGA - downstream_gene_variant LICA-FR 2 110881572 110881572 single base substitution G A downstream_gene_variant LICA-FR 2 110881572 110881572 single base substitution G A exon_variant LICA-FR 2 110881572 110881572 single base substitution G A synonymous_variant H547H 1641C>T LICA-FR 2 110881572 110881572 single base substitution G A synonymous_variant H610H 1830C>T LICA-FR 2 110881572 110881572 single base substitution G A synonymous_variant H644H 1932C>T LICA-FR 2 110881572 110881572 single base substitution G A synonymous_variant H665H 1995C>T LICA-FR 2 110881572 110881572 single base substitution G A synonymous_variant H666H 1998C>T LICA-FR 2 110891972 110891972 single base substitution G C intron_variant LICA-FR 2 110899550 110899550 insertion of <=200bp - A intron_variant LICA-FR 2 110901175 110901175 single base substitution C T exon_variant LICA-FR 2 110901175 110901175 single base substitution C T synonymous_variant Q428Q 1284G>A LICA-FR 2 110901175 110901175 single base substitution C T synonymous_variant Q490Q 1470G>A LICA-FR 2 110901175 110901175 single base substitution C T synonymous_variant Q491Q 1473G>A LICA-FR 2 110901175 110901175 single base substitution C T synonymous_variant Q546Q 1638G>A LICA-FR 2 110901175 110901175 single base substitution C T synonymous_variant Q547Q 1641G>A LICA-FR 2 110904175 110904175 single base substitution T A intron_variant LICA-FR 2 110904175 110904175 single base substitution T A upstream_gene_variant LICA-FR 2 110904354 110904354 single base substitution G A exon_variant LICA-FR 2 110904354 110904354 single base substitution G A missense_variant A380V 1139C>T LICA-FR 2 110904354 110904354 single base substitution G A missense_variant A442V 1325C>T LICA-FR 2 110904354 110904354 single base substitution G A missense_variant A443V 1328C>T LICA-FR 2 110904354 110904354 single base substitution G A missense_variant A498V 1493C>T LICA-FR 2 110904354 110904354 single base substitution G A missense_variant A499V 1496C>T LICA-FR 2 110904354 110904354 single base substitution G A upstream_gene_variant LICA-FR 2 110904391 110904391 single base substitution A G exon_variant LICA-FR 2 110904391 110904391 single base substitution A G synonymous_variant L368L 1102T>C LICA-FR 2 110904391 110904391 single base substitution A G synonymous_variant L430L 1288T>C LICA-FR 2 110904391 110904391 single base substitution A G synonymous_variant L431L 1291T>C LICA-FR 2 110904391 110904391 single base substitution A G synonymous_variant L486L 1456T>C LICA-FR 2 110904391 110904391 single base substitution A G synonymous_variant L487L 1459T>C LICA-FR 2 110904391 110904391 single base substitution A G upstream_gene_variant LICA-FR 2 110905532 110905532 single base substitution A G exon_variant LICA-FR 2 110905532 110905532 single base substitution A G synonymous_variant L347L 1041T>C LICA-FR 2 110905532 110905532 single base substitution A G synonymous_variant L409L 1227T>C LICA-FR 2 110905532 110905532 single base substitution A G synonymous_variant L410L 1230T>C LICA-FR 2 110905532 110905532 single base substitution A G synonymous_variant L465L 1395T>C LICA-FR 2 110905532 110905532 single base substitution A G synonymous_variant L466L 1398T>C LICA-FR 2 110905532 110905532 single base substitution A G upstream_gene_variant LICA-FR 2 110917712 110917712 single base substitution C T exon_variant LICA-FR 2 110917712 110917712 single base substitution C T missense_variant G296S 886G>A LICA-FR 2 110917712 110917712 single base substitution C T missense_variant G358S 1072G>A LICA-FR 2 110917712 110917712 single base substitution C T missense_variant G359S 1075G>A LICA-FR 2 110917712 110917712 single base substitution C T missense_variant G414S 1240G>A LICA-FR 2 110917712 110917712 single base substitution C T missense_variant G415S 1243G>A LICA-FR 2 110924675 110924675 single base substitution A T intron_variant LICA-FR 2 110925983 110925983 insertion of <=200bp - AA intron_variant LICA-FR 2 110927456 110927456 single base substitution T A exon_variant LICA-FR 2 110927456 110927456 single base substitution T A missense_variant K150I 449A>T LICA-FR 2 110927456 110927456 single base substitution T A missense_variant K88I 263A>T LICA-FR 2 110930911 110930911 single base substitution C T downstream_gene_variant LICA-FR 2 110930911 110930911 single base substitution C T intron_variant LICA-FR 2 110943394 110943394 single base substitution C T intron_variant LIHC-US 2 110881571 110881571 single base substitution A G downstream_gene_variant LIHC-US 2 110881571 110881571 single base substitution A G exon_variant LIHC-US 2 110881571 110881571 single base substitution A G missense_variant S548P 1642T>C LIHC-US 2 110881571 110881571 single base substitution A G missense_variant S611P 1831T>C LIHC-US 2 110881571 110881571 single base substitution A G missense_variant S645P 1933T>C LIHC-US 2 110881571 110881571 single base substitution A G missense_variant S666P 1996T>C LIHC-US 2 110881571 110881571 single base substitution A G missense_variant S667P 1999T>C LIHC-US 2 110926056 110926056 single base substitution T C exon_variant LIHC-US 2 110926056 110926056 single base substitution T C synonymous_variant E137E 411A>G LIHC-US 2 110926056 110926056 single base substitution T C synonymous_variant E199E 597A>G LIHC-US 2 110959033 110959033 single base substitution A G 3_prime_UTR_variant LIHC-US 2 110959033 110959033 single base substitution A G exon_variant LIHC-US 2 110959033 110959033 single base substitution A G synonymous_variant A36A 108T>C LINC-JP 2 110892862 110892862 single base substitution G A intron_variant LINC-JP 2 110905553 110905553 single base substitution A G exon_variant LINC-JP 2 110905553 110905553 single base substitution A G synonymous_variant S340S 1020T>C LINC-JP 2 110905553 110905553 single base substitution A G synonymous_variant S402S 1206T>C LINC-JP 2 110905553 110905553 single base substitution A G synonymous_variant S403S 1209T>C LINC-JP 2 110905553 110905553 single base substitution A G synonymous_variant S458S 1374T>C LINC-JP 2 110905553 110905553 single base substitution A G synonymous_variant S459S 1377T>C LINC-JP 2 110905553 110905553 single base substitution A G upstream_gene_variant LINC-JP 2 110913650 110913650 single base substitution C T intron_variant LINC-JP 2 110922746 110922746 single base substitution G A intron_variant LINC-JP 2 110926019 110926019 single base substitution C A intron_variant LINC-JP 2 110926285 110926285 single base substitution C A intron_variant LINC-JP 2 110930276 110930276 single base substitution A T intron_variant LINC-JP 2 110939220 110939220 single base substitution C A intron_variant LINC-JP 2 110964999 110964999 single base substitution A T upstream_gene_variant LIRI-JP 2 110877238 110877238 single base substitution A G downstream_gene_variant LIRI-JP 2 110877824 110877824 single base substitution C T downstream_gene_variant LIRI-JP 2 110880364 110880364 single base substitution T G 3_prime_UTR_variant LIRI-JP 2 110880364 110880364 single base substitution T G downstream_gene_variant LIRI-JP 2 110881584 110881584 single base substitution G T downstream_gene_variant LIRI-JP 2 110881584 110881584 single base substitution G T exon_variant LIRI-JP 2 110881584 110881584 single base substitution G T synonymous_variant L543L 1629C>A LIRI-JP 2 110881584 110881584 single base substitution G T synonymous_variant L606L 1818C>A LIRI-JP 2 110881584 110881584 single base substitution G T synonymous_variant L640L 1920C>A LIRI-JP 2 110881584 110881584 single base substitution G T synonymous_variant L661L 1983C>A LIRI-JP 2 110881584 110881584 single base substitution G T synonymous_variant L662L 1986C>A LIRI-JP 2 110881764 110881764 single base substitution C A downstream_gene_variant LIRI-JP 2 110881764 110881764 single base substitution C A exon_variant LIRI-JP 2 110881764 110881764 single base substitution C A intron_variant LIRI-JP 2 110883849 110883849 single base substitution A G downstream_gene_variant LIRI-JP 2 110883849 110883849 single base substitution A G exon_variant LIRI-JP 2 110883849 110883849 single base substitution A G intron_variant LIRI-JP 2 110884116 110884116 deletion of <=200bp G - downstream_gene_variant LIRI-JP 2 110884116 110884116 deletion of <=200bp G - exon_variant LIRI-JP 2 110884116 110884116 deletion of <=200bp G - intron_variant LIRI-JP 2 110884920 110884920 single base substitution C T downstream_gene_variant LIRI-JP 2 110884920 110884920 single base substitution C T exon_variant LIRI-JP 2 110884920 110884920 single base substitution C T intron_variant LIRI-JP 2 110885959 110885959 single base substitution T C downstream_gene_variant LIRI-JP 2 110885959 110885959 single base substitution T C exon_variant LIRI-JP 2 110885959 110885959 single base substitution T C intron_variant LIRI-JP 2 110887464 110887464 single base substitution A G intron_variant LIRI-JP 2 110887464 110887464 single base substitution A G upstream_gene_variant LIRI-JP 2 110887467 110887467 single base substitution C T intron_variant LIRI-JP 2 110887467 110887467 single base substitution C T upstream_gene_variant LIRI-JP 2 110889256 110889256 single base substitution C G missense_variant D485H 1453G>C LIRI-JP 2 110889256 110889256 single base substitution C G missense_variant D547H 1639G>C LIRI-JP 2 110889256 110889256 single base substitution C G missense_variant D548H 1642G>C LIRI-JP 2 110889256 110889256 single base substitution C G missense_variant D603H 1807G>C LIRI-JP 2 110889256 110889256 single base substitution C G missense_variant D604H 1810G>C LIRI-JP 2 110889256 110889256 single base substitution C G splice_region_variant LIRI-JP 2 110889256 110889256 single base substitution C G upstream_gene_variant LIRI-JP 2 110891203 110891203 single base substitution T A intron_variant LIRI-JP 2 110891203 110891203 single base substitution T A upstream_gene_variant LIRI-JP 2 110892671 110892671 single base substitution G T intron_variant LIRI-JP 2 110892796 110892796 single base substitution A T intron_variant LIRI-JP 2 110894559 110894559 single base substitution A G intron_variant LIRI-JP 2 110895262 110895262 single base substitution G C intron_variant LIRI-JP 2 110896852 110896852 single base substitution T C intron_variant LIRI-JP 2 110897220 110897220 single base substitution G C intron_variant LIRI-JP 2 110897402 110897404 deletion of <=200bp GAG - intron_variant LIRI-JP 2 110898256 110898256 single base substitution T A intron_variant LIRI-JP 2 110902760 110902760 single base substitution T G intron_variant LIRI-JP 2 110902760 110902760 single base substitution T G upstream_gene_variant LIRI-JP 2 110904050 110904050 single base substitution T C intron_variant LIRI-JP 2 110904050 110904050 single base substitution T C upstream_gene_variant LIRI-JP 2 110906252 110906252 single base substitution T C intron_variant LIRI-JP 2 110906252 110906252 single base substitution T C upstream_gene_variant LIRI-JP 2 110906373 110906373 single base substitution T C intron_variant LIRI-JP 2 110906373 110906373 single base substitution T C upstream_gene_variant LIRI-JP 2 110908178 110908178 single base substitution A G intron_variant LIRI-JP 2 110909987 110909990 deletion of <=200bp AAGT - intron_variant LIRI-JP 2 110911179 110911179 single base substitution T G intron_variant LIRI-JP 2 110911838 110911838 single base substitution A G intron_variant LIRI-JP 2 110913520 110913520 single base substitution A C intron_variant LIRI-JP 2 110915690 110915690 single base substitution T C intron_variant LIRI-JP 2 110918635 110918635 single base substitution C T intron_variant LIRI-JP 2 110919678 110919678 single base substitution T C intron_variant LIRI-JP 2 110921417 110921417 single base substitution T C exon_variant LIRI-JP 2 110921417 110921417 single base substitution T C intron_variant LIRI-JP 2 110922921 110922921 single base substitution G A intron_variant LIRI-JP 2 110922931 110922931 single base substitution C T intron_variant LIRI-JP 2 110924215 110924215 single base substitution T C intron_variant LIRI-JP 2 110927571 110927571 single base substitution C T exon_variant LIRI-JP 2 110927571 110927571 single base substitution C T missense_variant G112R 334G>A LIRI-JP 2 110927571 110927571 single base substitution C T missense_variant G50R 148G>A LIRI-JP 2 110930240 110930240 single base substitution T G intron_variant LIRI-JP 2 110931760 110931760 single base substitution G T downstream_gene_variant LIRI-JP 2 110931760 110931760 single base substitution G T intron_variant LIRI-JP 2 110932876 110932876 single base substitution C T downstream_gene_variant LIRI-JP 2 110932876 110932876 single base substitution C T intron_variant LIRI-JP 2 110933967 110933967 single base substitution T C downstream_gene_variant LIRI-JP 2 110933967 110933967 single base substitution T C intron_variant LIRI-JP 2 110937737 110937737 single base substitution A T intron_variant LIRI-JP 2 110938556 110938556 single base substitution C A intron_variant LIRI-JP 2 110938598 110938598 single base substitution G T intron_variant LIRI-JP 2 110944966 110944966 single base substitution C A intron_variant LIRI-JP 2 110946997 110946997 single base substitution G A intron_variant LIRI-JP 2 110947152 110947152 single base substitution A G intron_variant LIRI-JP 2 110949368 110949368 single base substitution T C intron_variant LIRI-JP 2 110950015 110950015 single base substitution A G intron_variant LIRI-JP 2 110950644 110950644 single base substitution G T intron_variant LIRI-JP 2 110952254 110952254 single base substitution T C intron_variant LIRI-JP 2 110953366 110953366 single base substitution C G intron_variant LIRI-JP 2 110955757 110955757 single base substitution C T intron_variant LIRI-JP 2 110959133 110959134 deletion of <=200bp TC - intron_variant LIRI-JP 2 110966137 110966137 single base substitution G A upstream_gene_variant LIRI-JP 2 110966417 110966417 single base substitution G A upstream_gene_variant LUSC-KR 2 110875365 110875365 single base substitution C T downstream_gene_variant LUSC-KR 2 110881566 110881566 single base substitution T C downstream_gene_variant LUSC-KR 2 110881566 110881566 single base substitution T C exon_variant LUSC-KR 2 110881566 110881566 single base substitution T C synonymous_variant T549T 1647A>G LUSC-KR 2 110881566 110881566 single base substitution T C synonymous_variant T612T 1836A>G LUSC-KR 2 110881566 110881566 single base substitution T C synonymous_variant T646T 1938A>G LUSC-KR 2 110881566 110881566 single base substitution T C synonymous_variant T667T 2001A>G LUSC-KR 2 110881566 110881566 single base substitution T C synonymous_variant T668T 2004A>G LUSC-KR 2 110882232 110882232 single base substitution C T downstream_gene_variant LUSC-KR 2 110882232 110882232 single base substitution C T exon_variant LUSC-KR 2 110882232 110882232 single base substitution C T intron_variant LUSC-KR 2 110882522 110882522 single base substitution C A downstream_gene_variant LUSC-KR 2 110882522 110882522 single base substitution C A exon_variant LUSC-KR 2 110882522 110882522 single base substitution C A intron_variant LUSC-KR 2 110882661 110882661 single base substitution G C downstream_gene_variant LUSC-KR 2 110882661 110882661 single base substitution G C exon_variant LUSC-KR 2 110882661 110882661 single base substitution G C intron_variant LUSC-KR 2 110883011 110883011 single base substitution G C 3_prime_UTR_variant LUSC-KR 2 110883011 110883011 single base substitution G C downstream_gene_variant LUSC-KR 2 110883011 110883011 single base substitution G C exon_variant LUSC-KR 2 110883011 110883011 single base substitution G C intron_variant LUSC-KR 2 110892179 110892179 single base substitution G C intron_variant LUSC-KR 2 110892758 110892758 single base substitution C A intron_variant LUSC-KR 2 110893009 110893009 single base substitution G T intron_variant LUSC-KR 2 110893531 110893531 single base substitution C A intron_variant LUSC-KR 2 110898097 110898097 single base substitution T C intron_variant LUSC-KR 2 110901417 110901417 single base substitution C A exon_variant LUSC-KR 2 110901417 110901417 single base substitution C A intron_variant LUSC-KR 2 110904967 110904967 single base substitution C G intron_variant LUSC-KR 2 110904967 110904967 single base substitution C G upstream_gene_variant LUSC-KR 2 110905743 110905743 single base substitution T A intron_variant LUSC-KR 2 110905743 110905743 single base substitution T A upstream_gene_variant LUSC-KR 2 110907005 110907005 single base substitution T A intron_variant LUSC-KR 2 110907005 110907005 single base substitution T A upstream_gene_variant LUSC-KR 2 110909788 110909788 single base substitution T C intron_variant LUSC-KR 2 110919668 110919668 single base substitution T A intron_variant LUSC-KR 2 110921173 110921173 single base substitution C A exon_variant LUSC-KR 2 110921173 110921173 single base substitution C A intron_variant LUSC-KR 2 110922814 110922814 single base substitution C A intron_variant LUSC-KR 2 110926122 110926122 single base substitution T A exon_variant LUSC-KR 2 110926122 110926122 single base substitution T A missense_variant E115D 345A>T LUSC-KR 2 110926122 110926122 single base substitution T A missense_variant E177D 531A>T LUSC-KR 2 110934223 110934223 single base substitution T C downstream_gene_variant LUSC-KR 2 110934223 110934223 single base substitution T C intron_variant LUSC-KR 2 110944280 110944280 single base substitution C G intron_variant LUSC-KR 2 110953137 110953137 single base substitution G A intron_variant LUSC-KR 2 110953581 110953581 single base substitution C G intron_variant LUSC-KR 2 110962424 110962424 single base substitution A T intron_variant LUSC-KR 2 110962598 110962598 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 2 110962598 110962598 single base substitution G A upstream_gene_variant LUSC-KR 2 110962599 110962599 single base substitution G C 5_prime_UTR_variant LUSC-KR 2 110962599 110962599 single base substitution G C upstream_gene_variant LUSC-KR 2 110962713 110962713 single base substitution G C upstream_gene_variant LUSC-KR 2 110965614 110965614 single base substitution T C upstream_gene_variant LUSC-KR 2 110966422 110966422 single base substitution T G upstream_gene_variant LUSC-US 2 110886762 110886762 single base substitution C T exon_variant LUSC-US 2 110886762 110886762 single base substitution C T splice_donor_variant LUSC-US 2 110926116 110926116 single base substitution G T exon_variant LUSC-US 2 110926116 110926116 single base substitution G T synonymous_variant L117L 351C>A LUSC-US 2 110926116 110926116 single base substitution G T synonymous_variant L179L 537C>A MALY-DE 2 110880214 110880214 single base substitution G T 3_prime_UTR_variant MALY-DE 2 110880214 110880214 single base substitution G T downstream_gene_variant MALY-DE 2 110881866 110881866 single base substitution G A downstream_gene_variant MALY-DE 2 110881866 110881866 single base substitution G A exon_variant MALY-DE 2 110881866 110881866 single base substitution G A intron_variant MALY-DE 2 110882409 110882409 single base substitution C T downstream_gene_variant MALY-DE 2 110882409 110882409 single base substitution C T exon_variant MALY-DE 2 110882409 110882409 single base substitution C T intron_variant MALY-DE 2 110886120 110886120 single base substitution T G downstream_gene_variant MALY-DE 2 110886120 110886120 single base substitution T G exon_variant MALY-DE 2 110886120 110886120 single base substitution T G intron_variant MALY-DE 2 110886665 110886665 single base substitution T C exon_variant MALY-DE 2 110886665 110886665 single base substitution T C intron_variant MALY-DE 2 110889107 110889107 single base substitution C A intron_variant MALY-DE 2 110889107 110889107 single base substitution C A upstream_gene_variant MALY-DE 2 110892310 110892310 single base substitution A C intron_variant MALY-DE 2 110896782 110896783 deletion of <=200bp AC - intron_variant MALY-DE 2 110897677 110897677 single base substitution A G intron_variant MALY-DE 2 110899970 110899970 single base substitution G A intron_variant MALY-DE 2 110902631 110902631 single base substitution G A intron_variant MALY-DE 2 110902631 110902631 single base substitution G A upstream_gene_variant MALY-DE 2 110902831 110902831 single base substitution C T intron_variant MALY-DE 2 110902831 110902831 single base substitution C T upstream_gene_variant MALY-DE 2 110904007 110904007 single base substitution C A intron_variant MALY-DE 2 110904007 110904007 single base substitution C A upstream_gene_variant MALY-DE 2 110909975 110909975 single base substitution A G intron_variant MALY-DE 2 110914521 110914521 single base substitution T G intron_variant MALY-DE 2 110915031 110915031 single base substitution A G intron_variant MALY-DE 2 110918185 110918185 single base substitution G A intron_variant MALY-DE 2 110929699 110929699 single base substitution A C intron_variant MALY-DE 2 110930888 110930888 single base substitution T G downstream_gene_variant MALY-DE 2 110930888 110930888 single base substitution T G intron_variant MALY-DE 2 110940363 110940363 single base substitution C T intron_variant MALY-DE 2 110941323 110941323 single base substitution C A intron_variant MALY-DE 2 110942255 110942255 single base substitution C T intron_variant MALY-DE 2 110943061 110943061 single base substitution G A intron_variant MALY-DE 2 110944602 110944602 single base substitution G A intron_variant MALY-DE 2 110947181 110947181 single base substitution C T intron_variant MALY-DE 2 110949731 110949731 single base substitution G A intron_variant MALY-DE 2 110954765 110954765 single base substitution A C intron_variant MALY-DE 2 110961472 110961472 single base substitution A C intron_variant MALY-DE 2 110967160 110967160 single base substitution A G upstream_gene_variant MELA-AU 2 110875366 110875366 single base substitution G A downstream_gene_variant MELA-AU 2 110875725 110875725 single base substitution G A downstream_gene_variant MELA-AU 2 110875919 110875919 single base substitution C T downstream_gene_variant MELA-AU 2 110875928 110875928 single base substitution C T downstream_gene_variant MELA-AU 2 110875967 110875967 single base substitution A C downstream_gene_variant MELA-AU 2 110875990 110875990 single base substitution G C downstream_gene_variant MELA-AU 2 110876019 110876019 single base substitution G A downstream_gene_variant MELA-AU 2 110876158 110876158 insertion of <=200bp - G downstream_gene_variant MELA-AU 2 110876213 110876213 single base substitution G A downstream_gene_variant MELA-AU 2 110877091 110877091 single base substitution G A downstream_gene_variant MELA-AU 2 110877215 110877215 single base substitution C T downstream_gene_variant MELA-AU 2 110877503 110877504 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 110877504 110877504 single base substitution G A downstream_gene_variant MELA-AU 2 110877569 110877569 single base substitution G A downstream_gene_variant MELA-AU 2 110877877 110877877 single base substitution G A downstream_gene_variant MELA-AU 2 110878161 110878162 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 110878369 110878369 single base substitution C T downstream_gene_variant MELA-AU 2 110878381 110878381 single base substitution C T downstream_gene_variant MELA-AU 2 110878385 110878385 single base substitution C T downstream_gene_variant MELA-AU 2 110878417 110878417 single base substitution C T downstream_gene_variant MELA-AU 2 110878716 110878716 single base substitution A C downstream_gene_variant MELA-AU 2 110879021 110879021 single base substitution A G downstream_gene_variant MELA-AU 2 110879990 110879990 single base substitution A G 3_prime_UTR_variant MELA-AU 2 110879990 110879990 single base substitution A G downstream_gene_variant MELA-AU 2 110880083 110880083 single base substitution G A 3_prime_UTR_variant MELA-AU 2 110880083 110880083 single base substitution G A downstream_gene_variant MELA-AU 2 110880241 110880241 single base substitution G A 3_prime_UTR_variant MELA-AU 2 110880241 110880241 single base substitution G A downstream_gene_variant MELA-AU 2 110880400 110880400 single base substitution G A 3_prime_UTR_variant MELA-AU 2 110880400 110880400 single base substitution G A downstream_gene_variant MELA-AU 2 110880475 110880475 single base substitution G A 3_prime_UTR_variant MELA-AU 2 110880475 110880475 single base substitution G A downstream_gene_variant MELA-AU 2 110880544 110880544 single base substitution C T 3_prime_UTR_variant MELA-AU 2 110880544 110880544 single base substitution C T downstream_gene_variant MELA-AU 2 110881341 110881341 single base substitution G A 3_prime_UTR_variant MELA-AU 2 110881341 110881341 single base substitution G A downstream_gene_variant MELA-AU 2 110881341 110881341 single base substitution G A exon_variant MELA-AU 2 110881790 110881790 single base substitution G A downstream_gene_variant MELA-AU 2 110881790 110881790 single base substitution G A exon_variant MELA-AU 2 110881790 110881790 single base substitution G A intron_variant MELA-AU 2 110882080 110882080 single base substitution C T downstream_gene_variant MELA-AU 2 110882080 110882080 single base substitution C T exon_variant MELA-AU 2 110882080 110882080 single base substitution C T intron_variant MELA-AU 2 110882337 110882337 single base substitution G A downstream_gene_variant MELA-AU 2 110882337 110882337 single base substitution G A exon_variant MELA-AU 2 110882337 110882337 single base substitution G A intron_variant MELA-AU 2 110882420 110882420 single base substitution G A downstream_gene_variant MELA-AU 2 110882420 110882420 single base substitution G A exon_variant MELA-AU 2 110882420 110882420 single base substitution G A intron_variant MELA-AU 2 110882700 110882700 single base substitution G A downstream_gene_variant MELA-AU 2 110882700 110882700 single base substitution G A exon_variant MELA-AU 2 110882700 110882700 single base substitution G A intron_variant MELA-AU 2 110882783 110882783 single base substitution G A downstream_gene_variant MELA-AU 2 110882783 110882783 single base substitution G A exon_variant MELA-AU 2 110882783 110882783 single base substitution G A intron_variant MELA-AU 2 110882799 110882799 single base substitution G A downstream_gene_variant MELA-AU 2 110882799 110882799 single base substitution G A exon_variant MELA-AU 2 110882799 110882799 single base substitution G A intron_variant MELA-AU 2 110882799 110882799 single base substitution G A synonymous_variant I620I 1860C>T MELA-AU 2 110883022 110883022 single base substitution C T 3_prime_UTR_variant MELA-AU 2 110883022 110883022 single base substitution C T downstream_gene_variant MELA-AU 2 110883022 110883022 single base substitution C T exon_variant MELA-AU 2 110883022 110883022 single base substitution C T intron_variant MELA-AU 2 110883457 110883457 single base substitution G A downstream_gene_variant MELA-AU 2 110883457 110883457 single base substitution G A exon_variant MELA-AU 2 110883457 110883457 single base substitution G A intron_variant MELA-AU 2 110883538 110883538 single base substitution G A downstream_gene_variant MELA-AU 2 110883538 110883538 single base substitution G A exon_variant MELA-AU 2 110883538 110883538 single base substitution G A intron_variant MELA-AU 2 110883821 110883821 single base substitution C T downstream_gene_variant MELA-AU 2 110883821 110883821 single base substitution C T exon_variant MELA-AU 2 110883821 110883821 single base substitution C T intron_variant MELA-AU 2 110883966 110883966 single base substitution G A downstream_gene_variant MELA-AU 2 110883966 110883966 single base substitution G A exon_variant MELA-AU 2 110883966 110883966 single base substitution G A intron_variant MELA-AU 2 110884048 110884049 multiple base substitution (>=2bp and <=200bp) CA TG downstream_gene_variant MELA-AU 2 110884048 110884049 multiple base substitution (>=2bp and <=200bp) CA TG exon_variant MELA-AU 2 110884048 110884049 multiple base substitution (>=2bp and <=200bp) CA TG intron_variant MELA-AU 2 110884177 110884177 single base substitution G A downstream_gene_variant MELA-AU 2 110884177 110884177 single base substitution G A exon_variant MELA-AU 2 110884177 110884177 single base substitution G A intron_variant MELA-AU 2 110884520 110884520 single base substitution G A downstream_gene_variant MELA-AU 2 110884520 110884520 single base substitution G A exon_variant MELA-AU 2 110884520 110884520 single base substitution G A intron_variant MELA-AU 2 110884641 110884641 single base substitution G A downstream_gene_variant MELA-AU 2 110884641 110884641 single base substitution G A exon_variant MELA-AU 2 110884641 110884641 single base substitution G A intron_variant MELA-AU 2 110885425 110885425 single base substitution G A downstream_gene_variant MELA-AU 2 110885425 110885425 single base substitution G A exon_variant MELA-AU 2 110885425 110885425 single base substitution G A intron_variant MELA-AU 2 110885555 110885555 single base substitution G A downstream_gene_variant MELA-AU 2 110885555 110885555 single base substitution G A exon_variant MELA-AU 2 110885555 110885555 single base substitution G A intron_variant MELA-AU 2 110885644 110885644 single base substitution T G downstream_gene_variant MELA-AU 2 110885644 110885644 single base substitution T G exon_variant MELA-AU 2 110885644 110885644 single base substitution T G intron_variant MELA-AU 2 110886001 110886001 single base substitution G A downstream_gene_variant MELA-AU 2 110886001 110886001 single base substitution G A exon_variant MELA-AU 2 110886001 110886001 single base substitution G A intron_variant MELA-AU 2 110886353 110886353 single base substitution A G downstream_gene_variant MELA-AU 2 110886353 110886353 single base substitution A G exon_variant MELA-AU 2 110886353 110886353 single base substitution A G intron_variant MELA-AU 2 110886610 110886610 single base substitution G A exon_variant MELA-AU 2 110886610 110886610 single base substitution G A intron_variant MELA-AU 2 110886646 110886646 single base substitution G A exon_variant MELA-AU 2 110886646 110886646 single base substitution G A intron_variant MELA-AU 2 110887104 110887104 single base substitution A G intron_variant MELA-AU 2 110887104 110887104 single base substitution A G upstream_gene_variant MELA-AU 2 110887122 110887122 single base substitution C T intron_variant MELA-AU 2 110887122 110887122 single base substitution C T upstream_gene_variant MELA-AU 2 110887218 110887218 single base substitution A G intron_variant MELA-AU 2 110887218 110887218 single base substitution A G upstream_gene_variant MELA-AU 2 110887229 110887229 single base substitution G A intron_variant MELA-AU 2 110887229 110887229 single base substitution G A upstream_gene_variant MELA-AU 2 110887262 110887262 single base substitution G A intron_variant MELA-AU 2 110887262 110887262 single base substitution G A upstream_gene_variant MELA-AU 2 110887620 110887620 single base substitution G A intron_variant MELA-AU 2 110887620 110887620 single base substitution G A upstream_gene_variant MELA-AU 2 110887662 110887662 single base substitution G A intron_variant MELA-AU 2 110887662 110887662 single base substitution G A upstream_gene_variant MELA-AU 2 110887687 110887687 single base substitution A T intron_variant MELA-AU 2 110887687 110887687 single base substitution A T upstream_gene_variant MELA-AU 2 110888001 110888001 single base substitution C T intron_variant MELA-AU 2 110888001 110888001 single base substitution C T upstream_gene_variant MELA-AU 2 110888033 110888033 single base substitution G A intron_variant MELA-AU 2 110888033 110888033 single base substitution G A upstream_gene_variant MELA-AU 2 110888331 110888331 single base substitution C T intron_variant MELA-AU 2 110888331 110888331 single base substitution C T upstream_gene_variant MELA-AU 2 110888958 110888958 single base substitution G A intron_variant MELA-AU 2 110888958 110888958 single base substitution G A upstream_gene_variant MELA-AU 2 110889006 110889006 single base substitution G A intron_variant MELA-AU 2 110889006 110889006 single base substitution G A upstream_gene_variant MELA-AU 2 110889240 110889240 single base substitution G A intron_variant MELA-AU 2 110889240 110889240 single base substitution G A upstream_gene_variant MELA-AU 2 110889641 110889641 single base substitution A T intron_variant MELA-AU 2 110889641 110889641 single base substitution A T upstream_gene_variant MELA-AU 2 110889675 110889675 single base substitution G A intron_variant MELA-AU 2 110889675 110889675 single base substitution G A upstream_gene_variant MELA-AU 2 110889891 110889891 single base substitution C T intron_variant MELA-AU 2 110889891 110889891 single base substitution C T upstream_gene_variant MELA-AU 2 110889991 110889991 single base substitution G A intron_variant MELA-AU 2 110889991 110889991 single base substitution G A upstream_gene_variant MELA-AU 2 110890254 110890254 single base substitution G A intron_variant MELA-AU 2 110890254 110890254 single base substitution G A upstream_gene_variant MELA-AU 2 110890257 110890257 single base substitution A T intron_variant MELA-AU 2 110890257 110890257 single base substitution A T upstream_gene_variant MELA-AU 2 110890527 110890527 single base substitution G A intron_variant MELA-AU 2 110890527 110890527 single base substitution G A upstream_gene_variant MELA-AU 2 110890647 110890647 single base substitution T G intron_variant MELA-AU 2 110890647 110890647 single base substitution T G upstream_gene_variant MELA-AU 2 110890891 110890891 single base substitution G A intron_variant MELA-AU 2 110890891 110890891 single base substitution G A upstream_gene_variant MELA-AU 2 110891004 110891004 single base substitution G A intron_variant MELA-AU 2 110891004 110891004 single base substitution G A upstream_gene_variant MELA-AU 2 110891242 110891242 single base substitution G A intron_variant MELA-AU 2 110891242 110891242 single base substitution G A upstream_gene_variant MELA-AU 2 110891310 110891310 single base substitution C T intron_variant MELA-AU 2 110891310 110891310 single base substitution C T upstream_gene_variant MELA-AU 2 110891738 110891738 single base substitution G A intron_variant MELA-AU 2 110891738 110891738 single base substitution G A upstream_gene_variant MELA-AU 2 110891816 110891816 single base substitution G A intron_variant MELA-AU 2 110891816 110891816 single base substitution G A upstream_gene_variant MELA-AU 2 110891970 110891970 single base substitution G A intron_variant MELA-AU 2 110891972 110891972 single base substitution G A intron_variant MELA-AU 2 110892040 110892040 single base substitution G A intron_variant MELA-AU 2 110892305 110892305 single base substitution G A intron_variant MELA-AU 2 110892544 110892544 single base substitution G A intron_variant MELA-AU 2 110892592 110892592 single base substitution G A intron_variant MELA-AU 2 110892702 110892702 single base substitution C T intron_variant MELA-AU 2 110892738 110892738 single base substitution G A intron_variant MELA-AU 2 110892832 110892832 single base substitution G A intron_variant MELA-AU 2 110892998 110892998 single base substitution G A intron_variant MELA-AU 2 110893097 110893098 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 110894251 110894251 single base substitution G A intron_variant MELA-AU 2 110894910 110894910 deletion of <=200bp T - intron_variant MELA-AU 2 110895680 110895680 single base substitution T C intron_variant MELA-AU 2 110895724 110895725 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 110896094 110896094 single base substitution G A intron_variant MELA-AU 2 110896161 110896161 single base substitution C T intron_variant MELA-AU 2 110896287 110896287 single base substitution G A intron_variant MELA-AU 2 110896344 110896344 deletion of <=200bp C - intron_variant MELA-AU 2 110896360 110896360 single base substitution G A intron_variant MELA-AU 2 110896534 110896534 single base substitution C T intron_variant MELA-AU 2 110896727 110896727 single base substitution G A intron_variant MELA-AU 2 110897374 110897374 single base substitution G A intron_variant MELA-AU 2 110897687 110897687 single base substitution G A intron_variant MELA-AU 2 110898146 110898146 single base substitution G A intron_variant MELA-AU 2 110898379 110898379 single base substitution G A intron_variant MELA-AU 2 110898777 110898777 single base substitution A C intron_variant MELA-AU 2 110898809 110898809 single base substitution T C intron_variant MELA-AU 2 110899458 110899458 single base substitution G A intron_variant MELA-AU 2 110899806 110899806 single base substitution G A intron_variant MELA-AU 2 110900135 110900135 single base substitution C T intron_variant MELA-AU 2 110900186 110900186 single base substitution C T intron_variant MELA-AU 2 110900724 110900724 single base substitution T C intron_variant MELA-AU 2 110901042 110901042 single base substitution G A intron_variant MELA-AU 2 110901293 110901293 single base substitution C T exon_variant MELA-AU 2 110901293 110901293 single base substitution C T intron_variant MELA-AU 2 110901860 110901860 single base substitution G A exon_variant MELA-AU 2 110901860 110901860 single base substitution G A intron_variant MELA-AU 2 110903325 110903325 single base substitution G A intron_variant MELA-AU 2 110903325 110903325 single base substitution G A upstream_gene_variant MELA-AU 2 110903374 110903374 single base substitution C T intron_variant MELA-AU 2 110903374 110903374 single base substitution C T upstream_gene_variant MELA-AU 2 110904066 110904066 single base substitution G A intron_variant MELA-AU 2 110904066 110904066 single base substitution G A upstream_gene_variant MELA-AU 2 110904256 110904256 single base substitution C T intron_variant MELA-AU 2 110904256 110904256 single base substitution C T upstream_gene_variant MELA-AU 2 110904399 110904399 single base substitution C T exon_variant MELA-AU 2 110904399 110904399 single base substitution C T missense_variant R365K 1094G>A MELA-AU 2 110904399 110904399 single base substitution C T missense_variant R427K 1280G>A MELA-AU 2 110904399 110904399 single base substitution C T missense_variant R428K 1283G>A MELA-AU 2 110904399 110904399 single base substitution C T missense_variant R483K 1448G>A MELA-AU 2 110904399 110904399 single base substitution C T missense_variant R484K 1451G>A MELA-AU 2 110904399 110904399 single base substitution C T upstream_gene_variant MELA-AU 2 110904405 110904405 single base substitution C T exon_variant MELA-AU 2 110904405 110904405 single base substitution C T missense_variant G363D 1088G>A MELA-AU 2 110904405 110904405 single base substitution C T missense_variant G425D 1274G>A MELA-AU 2 110904405 110904405 single base substitution C T missense_variant G426D 1277G>A MELA-AU 2 110904405 110904405 single base substitution C T missense_variant G481D 1442G>A MELA-AU 2 110904405 110904405 single base substitution C T missense_variant G482D 1445G>A MELA-AU 2 110904405 110904405 single base substitution C T upstream_gene_variant MELA-AU 2 110904735 110904735 single base substitution G A intron_variant MELA-AU 2 110904735 110904735 single base substitution G A upstream_gene_variant MELA-AU 2 110904975 110904975 single base substitution C T intron_variant MELA-AU 2 110904975 110904975 single base substitution C T upstream_gene_variant MELA-AU 2 110905793 110905793 single base substitution G A intron_variant MELA-AU 2 110905793 110905793 single base substitution G A upstream_gene_variant MELA-AU 2 110906090 110906090 single base substitution A T intron_variant MELA-AU 2 110906090 110906090 single base substitution A T upstream_gene_variant MELA-AU 2 110906205 110906205 single base substitution G A intron_variant MELA-AU 2 110906205 110906205 single base substitution G A upstream_gene_variant MELA-AU 2 110907489 110907489 single base substitution C A intron_variant MELA-AU 2 110908136 110908136 single base substitution A T intron_variant MELA-AU 2 110909632 110909632 single base substitution G A intron_variant MELA-AU 2 110910103 110910103 single base substitution G A intron_variant MELA-AU 2 110910302 110910302 single base substitution G A intron_variant MELA-AU 2 110910387 110910387 single base substitution G A intron_variant MELA-AU 2 110910389 110910389 single base substitution G A intron_variant MELA-AU 2 110910440 110910440 single base substitution G A intron_variant MELA-AU 2 110910446 110910446 single base substitution G A intron_variant MELA-AU 2 110910661 110910661 single base substitution C T intron_variant MELA-AU 2 110910974 110910974 single base substitution G A intron_variant MELA-AU 2 110911254 110911254 single base substitution G A intron_variant MELA-AU 2 110911277 110911277 single base substitution G A intron_variant MELA-AU 2 110911504 110911504 single base substitution G A intron_variant MELA-AU 2 110911814 110911814 single base substitution G A intron_variant MELA-AU 2 110912081 110912081 single base substitution G A intron_variant MELA-AU 2 110912584 110912584 single base substitution G A intron_variant MELA-AU 2 110912599 110912599 single base substitution G A intron_variant MELA-AU 2 110912602 110912602 single base substitution G A intron_variant MELA-AU 2 110912610 110912610 single base substitution G A intron_variant MELA-AU 2 110912884 110912884 single base substitution G A intron_variant MELA-AU 2 110912910 110912910 single base substitution G A intron_variant MELA-AU 2 110912924 110912924 single base substitution G A intron_variant MELA-AU 2 110912952 110912952 single base substitution A G intron_variant MELA-AU 2 110913837 110913837 single base substitution C T intron_variant MELA-AU 2 110913873 110913873 single base substitution T G intron_variant MELA-AU 2 110914068 110914069 multiple base substitution (>=2bp and <=200bp) GA AG intron_variant MELA-AU 2 110914076 110914076 single base substitution G A intron_variant MELA-AU 2 110914249 110914249 single base substitution G A intron_variant MELA-AU 2 110914263 110914263 single base substitution G A intron_variant MELA-AU 2 110914759 110914759 single base substitution G A intron_variant MELA-AU 2 110915189 110915189 single base substitution G A intron_variant MELA-AU 2 110915462 110915462 single base substitution G A intron_variant MELA-AU 2 110915466 110915466 single base substitution G A intron_variant MELA-AU 2 110915649 110915649 single base substitution G A intron_variant MELA-AU 2 110916435 110916435 single base substitution A T intron_variant MELA-AU 2 110916467 110916467 single base substitution G A intron_variant MELA-AU 2 110916567 110916567 single base substitution G A intron_variant MELA-AU 2 110916617 110916617 single base substitution G A intron_variant MELA-AU 2 110916696 110916696 single base substitution G A intron_variant MELA-AU 2 110916818 110916821 deletion of <=200bp CTTT - intron_variant MELA-AU 2 110916824 110916824 single base substitution T G intron_variant MELA-AU 2 110917415 110917415 single base substitution A G intron_variant MELA-AU 2 110917619 110917619 single base substitution T C intron_variant MELA-AU 2 110917635 110917635 single base substitution G A intron_variant MELA-AU 2 110917676 110917676 single base substitution G A intron_variant MELA-AU 2 110917911 110917911 single base substitution G A intron_variant MELA-AU 2 110919007 110919007 single base substitution G A intron_variant MELA-AU 2 110919637 110919637 single base substitution A T intron_variant MELA-AU 2 110919819 110919819 single base substitution G A intron_variant MELA-AU 2 110919993 110919993 single base substitution A G intron_variant MELA-AU 2 110920109 110920109 single base substitution C T intron_variant MELA-AU 2 110920149 110920149 single base substitution G A intron_variant MELA-AU 2 110920189 110920189 single base substitution G A intron_variant MELA-AU 2 110920373 110920373 single base substitution G A intron_variant MELA-AU 2 110920638 110920638 single base substitution C T exon_variant MELA-AU 2 110920638 110920638 single base substitution C T synonymous_variant Q219Q 657G>A MELA-AU 2 110920638 110920638 single base substitution C T synonymous_variant Q281Q 843G>A MELA-AU 2 110920638 110920638 single base substitution C T synonymous_variant Q282Q 846G>A MELA-AU 2 110920638 110920638 single base substitution C T synonymous_variant Q337Q 1011G>A MELA-AU 2 110920638 110920638 single base substitution C T synonymous_variant Q338Q 1014G>A MELA-AU 2 110920776 110920776 single base substitution T C exon_variant MELA-AU 2 110920776 110920776 single base substitution T C intron_variant MELA-AU 2 110920854 110920854 single base substitution C A exon_variant MELA-AU 2 110920854 110920854 single base substitution C A intron_variant MELA-AU 2 110920891 110920891 single base substitution C T exon_variant MELA-AU 2 110920891 110920891 single base substitution C T intron_variant MELA-AU 2 110921218 110921218 single base substitution A G exon_variant MELA-AU 2 110921218 110921218 single base substitution A G intron_variant MELA-AU 2 110921612 110921612 deletion of <=200bp A - exon_variant MELA-AU 2 110921612 110921612 deletion of <=200bp A - intron_variant MELA-AU 2 110921622 110921622 single base substitution T A exon_variant MELA-AU 2 110921622 110921622 single base substitution T A intron_variant MELA-AU 2 110921637 110921637 single base substitution G A exon_variant MELA-AU 2 110921637 110921637 single base substitution G A intron_variant MELA-AU 2 110921704 110921704 single base substitution C A exon_variant MELA-AU 2 110921704 110921704 single base substitution C A intron_variant MELA-AU 2 110921826 110921826 single base substitution C T exon_variant MELA-AU 2 110921826 110921826 single base substitution C T intron_variant MELA-AU 2 110921935 110921935 single base substitution G A exon_variant MELA-AU 2 110921935 110921935 single base substitution G A intron_variant MELA-AU 2 110921951 110921951 single base substitution C T exon_variant MELA-AU 2 110921951 110921951 single base substitution C T intron_variant MELA-AU 2 110922282 110922282 single base substitution G A exon_variant MELA-AU 2 110922282 110922282 single base substitution G A stop_gained Q190* 568C>T MELA-AU 2 110922282 110922282 single base substitution G A stop_gained Q252* 754C>T MELA-AU 2 110922355 110922355 single base substitution C G intron_variant MELA-AU 2 110922506 110922506 single base substitution T C intron_variant MELA-AU 2 110922960 110922960 single base substitution G A intron_variant MELA-AU 2 110923248 110923248 single base substitution C T intron_variant MELA-AU 2 110923254 110923254 single base substitution G A intron_variant MELA-AU 2 110923361 110923361 single base substitution G A intron_variant MELA-AU 2 110923617 110923617 single base substitution C T intron_variant MELA-AU 2 110924218 110924218 single base substitution G A intron_variant MELA-AU 2 110924872 110924872 single base substitution G A intron_variant MELA-AU 2 110924949 110924949 single base substitution G A intron_variant MELA-AU 2 110925071 110925077 deletion of <=200bp GCGAAGT - intron_variant MELA-AU 2 110925342 110925342 single base substitution G A intron_variant MELA-AU 2 110925570 110925570 single base substitution G A intron_variant MELA-AU 2 110926342 110926342 single base substitution G C intron_variant MELA-AU 2 110926460 110926460 single base substitution T C intron_variant MELA-AU 2 110926486 110926486 single base substitution G A intron_variant MELA-AU 2 110927316 110927316 single base substitution G A intron_variant MELA-AU 2 110927700 110927700 single base substitution G A intron_variant MELA-AU 2 110927764 110927764 single base substitution G A intron_variant MELA-AU 2 110928224 110928224 single base substitution A T intron_variant MELA-AU 2 110928516 110928516 single base substitution G A intron_variant MELA-AU 2 110928552 110928552 single base substitution C T intron_variant MELA-AU 2 110928571 110928571 single base substitution G A intron_variant MELA-AU 2 110928674 110928674 single base substitution G A intron_variant MELA-AU 2 110928690 110928690 single base substitution G A intron_variant MELA-AU 2 110928931 110928931 single base substitution G A intron_variant MELA-AU 2 110929289 110929289 single base substitution G A intron_variant MELA-AU 2 110929399 110929399 insertion of <=200bp - AT intron_variant MELA-AU 2 110930272 110930272 single base substitution G A intron_variant MELA-AU 2 110930387 110930387 single base substitution C T intron_variant MELA-AU 2 110930939 110930939 single base substitution G A downstream_gene_variant MELA-AU 2 110930939 110930939 single base substitution G A intron_variant MELA-AU 2 110931544 110931544 single base substitution G A downstream_gene_variant MELA-AU 2 110931544 110931544 single base substitution G A intron_variant MELA-AU 2 110931723 110931723 single base substitution C T downstream_gene_variant MELA-AU 2 110931723 110931723 single base substitution C T intron_variant MELA-AU 2 110932340 110932340 single base substitution G A downstream_gene_variant MELA-AU 2 110932340 110932340 single base substitution G A intron_variant MELA-AU 2 110932778 110932778 single base substitution T C downstream_gene_variant MELA-AU 2 110932778 110932778 single base substitution T C intron_variant MELA-AU 2 110932855 110932855 single base substitution G A downstream_gene_variant MELA-AU 2 110932855 110932855 single base substitution G A intron_variant MELA-AU 2 110933121 110933121 single base substitution G A downstream_gene_variant MELA-AU 2 110933121 110933121 single base substitution G A intron_variant MELA-AU 2 110934214 110934214 single base substitution G A downstream_gene_variant MELA-AU 2 110934214 110934214 single base substitution G A intron_variant MELA-AU 2 110934409 110934409 single base substitution G A downstream_gene_variant MELA-AU 2 110934409 110934409 single base substitution G A intron_variant MELA-AU 2 110935039 110935039 single base substitution G A downstream_gene_variant MELA-AU 2 110935039 110935039 single base substitution G A intron_variant MELA-AU 2 110936310 110936310 single base substitution G A downstream_gene_variant MELA-AU 2 110936310 110936310 single base substitution G A intron_variant MELA-AU 2 110936387 110936387 single base substitution G A 3_prime_UTR_variant MELA-AU 2 110936387 110936387 single base substitution G A intron_variant MELA-AU 2 110936577 110936577 single base substitution A T intron_variant MELA-AU 2 110936586 110936586 single base substitution G A intron_variant MELA-AU 2 110936799 110936799 single base substitution A G intron_variant MELA-AU 2 110937269 110937269 single base substitution A C intron_variant MELA-AU 2 110937269 110937269 single base substitution A C splice_region_variant MELA-AU 2 110937279 110937279 single base substitution A G intron_variant MELA-AU 2 110938017 110938018 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 2 110938591 110938591 single base substitution G A intron_variant MELA-AU 2 110938733 110938733 single base substitution G A intron_variant MELA-AU 2 110938930 110938930 single base substitution G A intron_variant MELA-AU 2 110939011 110939011 single base substitution G A intron_variant MELA-AU 2 110939069 110939069 single base substitution G A intron_variant MELA-AU 2 110939167 110939167 single base substitution A G intron_variant MELA-AU 2 110939212 110939212 single base substitution G A intron_variant MELA-AU 2 110939661 110939661 single base substitution G A intron_variant MELA-AU 2 110939767 110939767 single base substitution G A intron_variant MELA-AU 2 110939858 110939858 single base substitution G A intron_variant MELA-AU 2 110940186 110940186 single base substitution C G intron_variant MELA-AU 2 110940217 110940217 single base substitution G A intron_variant MELA-AU 2 110940232 110940232 single base substitution G A intron_variant MELA-AU 2 110940475 110940475 single base substitution C A intron_variant MELA-AU 2 110940523 110940523 single base substitution G A intron_variant MELA-AU 2 110940542 110940542 single base substitution G A intron_variant MELA-AU 2 110940820 110940820 single base substitution G A intron_variant MELA-AU 2 110940917 110940917 single base substitution G A intron_variant MELA-AU 2 110941003 110941003 single base substitution G A intron_variant MELA-AU 2 110941183 110941183 single base substitution G A intron_variant MELA-AU 2 110941222 110941222 single base substitution G T intron_variant MELA-AU 2 110941235 110941235 single base substitution A T intron_variant MELA-AU 2 110941357 110941357 single base substitution G A intron_variant MELA-AU 2 110941503 110941503 single base substitution G A intron_variant MELA-AU 2 110941518 110941518 single base substitution T C intron_variant MELA-AU 2 110941600 110941600 single base substitution G A intron_variant MELA-AU 2 110941951 110941951 single base substitution C T intron_variant MELA-AU 2 110942313 110942313 single base substitution C T intron_variant MELA-AU 2 110942855 110942855 single base substitution G T intron_variant MELA-AU 2 110942933 110942933 single base substitution G A intron_variant MELA-AU 2 110943054 110943054 single base substitution G A intron_variant MELA-AU 2 110943105 110943105 single base substitution G A intron_variant MELA-AU 2 110943585 110943585 single base substitution G A intron_variant MELA-AU 2 110943975 110943975 single base substitution G A intron_variant MELA-AU 2 110944078 110944078 single base substitution G A intron_variant MELA-AU 2 110944099 110944099 single base substitution G A intron_variant MELA-AU 2 110944128 110944128 single base substitution G A intron_variant MELA-AU 2 110944342 110944342 single base substitution T A intron_variant MELA-AU 2 110944372 110944372 single base substitution G A intron_variant MELA-AU 2 110944431 110944431 single base substitution G A intron_variant MELA-AU 2 110944472 110944472 single base substitution G A intron_variant MELA-AU 2 110944765 110944765 single base substitution G A intron_variant MELA-AU 2 110945278 110945278 single base substitution G A intron_variant MELA-AU 2 110945874 110945874 single base substitution G A intron_variant MELA-AU 2 110946016 110946016 single base substitution G A intron_variant MELA-AU 2 110946221 110946221 single base substitution G A intron_variant MELA-AU 2 110946261 110946261 single base substitution G A intron_variant MELA-AU 2 110946264 110946264 single base substitution G A intron_variant MELA-AU 2 110946266 110946266 single base substitution G A intron_variant MELA-AU 2 110946728 110946728 single base substitution G A intron_variant MELA-AU 2 110946830 110946830 single base substitution C T intron_variant MELA-AU 2 110947265 110947265 single base substitution G A intron_variant MELA-AU 2 110947365 110947365 single base substitution A G intron_variant MELA-AU 2 110947512 110947512 single base substitution G A intron_variant MELA-AU 2 110947526 110947526 single base substitution C T intron_variant MELA-AU 2 110947778 110947778 single base substitution G A intron_variant MELA-AU 2 110947844 110947844 single base substitution G A intron_variant MELA-AU 2 110948370 110948370 single base substitution G A intron_variant MELA-AU 2 110948546 110948546 single base substitution G A intron_variant MELA-AU 2 110948726 110948726 single base substitution G A intron_variant MELA-AU 2 110948738 110948738 single base substitution G A intron_variant MELA-AU 2 110948754 110948754 single base substitution G A intron_variant MELA-AU 2 110948847 110948847 single base substitution G A intron_variant MELA-AU 2 110948871 110948871 single base substitution G A intron_variant MELA-AU 2 110949732 110949732 single base substitution G A intron_variant MELA-AU 2 110949814 110949814 single base substitution G A intron_variant MELA-AU 2 110949841 110949841 single base substitution G A intron_variant MELA-AU 2 110950074 110950074 single base substitution T G intron_variant MELA-AU 2 110950133 110950133 single base substitution G A intron_variant MELA-AU 2 110950665 110950665 single base substitution A G intron_variant MELA-AU 2 110950742 110950742 single base substitution T G intron_variant MELA-AU 2 110951110 110951110 single base substitution C T intron_variant MELA-AU 2 110951385 110951385 single base substitution T G intron_variant MELA-AU 2 110951411 110951411 single base substitution G A intron_variant MELA-AU 2 110951498 110951498 single base substitution G A intron_variant MELA-AU 2 110951637 110951637 single base substitution G A intron_variant MELA-AU 2 110952278 110952278 single base substitution C A intron_variant MELA-AU 2 110952579 110952579 single base substitution G A intron_variant MELA-AU 2 110953046 110953046 single base substitution G A intron_variant MELA-AU 2 110953221 110953221 single base substitution G A intron_variant MELA-AU 2 110953245 110953245 single base substitution G A intron_variant MELA-AU 2 110953927 110953927 single base substitution G A intron_variant MELA-AU 2 110954112 110954112 single base substitution G A intron_variant MELA-AU 2 110954245 110954245 single base substitution G A intron_variant MELA-AU 2 110954432 110954432 single base substitution G A intron_variant MELA-AU 2 110954433 110954433 single base substitution G A intron_variant MELA-AU 2 110954752 110954752 single base substitution G A intron_variant MELA-AU 2 110954949 110954949 single base substitution G A intron_variant MELA-AU 2 110955720 110955720 single base substitution G A intron_variant MELA-AU 2 110955769 110955769 single base substitution A G intron_variant MELA-AU 2 110956031 110956031 single base substitution G A intron_variant MELA-AU 2 110956201 110956201 single base substitution G A intron_variant MELA-AU 2 110956367 110956367 single base substitution G A intron_variant MELA-AU 2 110956481 110956481 single base substitution G T intron_variant MELA-AU 2 110956496 110956496 single base substitution A T intron_variant MELA-AU 2 110956544 110956544 single base substitution G A intron_variant MELA-AU 2 110956589 110956589 single base substitution G A intron_variant MELA-AU 2 110956673 110956673 single base substitution A C intron_variant MELA-AU 2 110956678 110956678 single base substitution G A intron_variant MELA-AU 2 110956828 110956829 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 110957205 110957205 single base substitution C T intron_variant MELA-AU 2 110957583 110957583 single base substitution C T intron_variant MELA-AU 2 110957652 110957652 single base substitution G A intron_variant MELA-AU 2 110957691 110957691 single base substitution G A intron_variant MELA-AU 2 110957900 110957900 single base substitution G A intron_variant MELA-AU 2 110958097 110958097 single base substitution G A intron_variant MELA-AU 2 110958491 110958491 single base substitution A T intron_variant MELA-AU 2 110958504 110958504 single base substitution A G intron_variant MELA-AU 2 110958602 110958602 single base substitution G A intron_variant MELA-AU 2 110958915 110958915 single base substitution G A intron_variant MELA-AU 2 110959386 110959386 single base substitution G A intron_variant MELA-AU 2 110959867 110959867 single base substitution G A intron_variant MELA-AU 2 110960103 110960103 single base substitution C T intron_variant MELA-AU 2 110960115 110960115 single base substitution G C intron_variant MELA-AU 2 110960871 110960871 single base substitution C T intron_variant MELA-AU 2 110961431 110961431 single base substitution G A intron_variant MELA-AU 2 110962574 110962574 single base substitution C T 5_prime_UTR_variant MELA-AU 2 110962574 110962574 single base substitution C T exon_variant MELA-AU 2 110962574 110962574 single base substitution C T upstream_gene_variant MELA-AU 2 110962584 110962584 single base substitution G A 5_prime_UTR_variant MELA-AU 2 110962584 110962584 single base substitution G A exon_variant MELA-AU 2 110962584 110962584 single base substitution G A upstream_gene_variant MELA-AU 2 110962648 110962648 single base substitution C T upstream_gene_variant MELA-AU 2 110962935 110962935 single base substitution C T upstream_gene_variant MELA-AU 2 110963392 110963392 single base substitution A G upstream_gene_variant MELA-AU 2 110963585 110963585 single base substitution G A upstream_gene_variant MELA-AU 2 110964044 110964044 single base substitution G C upstream_gene_variant MELA-AU 2 110964599 110964599 single base substitution G A upstream_gene_variant MELA-AU 2 110964694 110964694 single base substitution A G upstream_gene_variant MELA-AU 2 110964797 110964797 single base substitution A G upstream_gene_variant MELA-AU 2 110964935 110964935 single base substitution C T upstream_gene_variant MELA-AU 2 110965340 110965340 single base substitution A G upstream_gene_variant MELA-AU 2 110965858 110965858 single base substitution G A upstream_gene_variant MELA-AU 2 110966105 110966105 single base substitution G A upstream_gene_variant MELA-AU 2 110966136 110966136 single base substitution G A upstream_gene_variant MELA-AU 2 110966387 110966387 single base substitution C T upstream_gene_variant MELA-AU 2 110967348 110967348 single base substitution T C upstream_gene_variant MELA-AU 2 110967466 110967466 single base substitution G A upstream_gene_variant MELA-AU 2 110967498 110967498 single base substitution G A upstream_gene_variant ORCA-IN 2 110877265 110877265 single base substitution C T downstream_gene_variant ORCA-IN 2 110878455 110878455 single base substitution G C downstream_gene_variant ORCA-IN 2 110901131 110901131 single base substitution C G exon_variant ORCA-IN 2 110901131 110901131 single base substitution C G missense_variant R443T 1328G>C ORCA-IN 2 110901131 110901131 single base substitution C G missense_variant R505T 1514G>C ORCA-IN 2 110901131 110901131 single base substitution C G missense_variant R506T 1517G>C ORCA-IN 2 110901131 110901131 single base substitution C G missense_variant R561T 1682G>C ORCA-IN 2 110901131 110901131 single base substitution C G missense_variant R562T 1685G>C ORCA-IN 2 110913207 110913207 single base substitution C A intron_variant OV-AU 2 110875145 110875145 single base substitution T C downstream_gene_variant OV-AU 2 110875482 110875482 single base substitution A G downstream_gene_variant OV-AU 2 110882029 110882029 single base substitution G A downstream_gene_variant OV-AU 2 110882029 110882029 single base substitution G A exon_variant OV-AU 2 110882029 110882029 single base substitution G A intron_variant OV-AU 2 110883282 110883282 single base substitution T A downstream_gene_variant OV-AU 2 110883282 110883282 single base substitution T A exon_variant OV-AU 2 110883282 110883282 single base substitution T A intron_variant OV-AU 2 110884531 110884531 single base substitution A C downstream_gene_variant OV-AU 2 110884531 110884531 single base substitution A C exon_variant OV-AU 2 110884531 110884531 single base substitution A C intron_variant OV-AU 2 110895767 110895767 single base substitution A C intron_variant OV-AU 2 110896314 110896314 single base substitution G A intron_variant OV-AU 2 110896332 110896332 single base substitution G T intron_variant OV-AU 2 110897122 110897122 single base substitution G C intron_variant OV-AU 2 110904226 110904226 single base substitution C G intron_variant OV-AU 2 110904226 110904226 single base substitution C G upstream_gene_variant OV-AU 2 110912626 110912626 single base substitution C G intron_variant OV-AU 2 110913177 110913177 single base substitution C A intron_variant OV-AU 2 110913488 110913488 single base substitution T G intron_variant OV-AU 2 110915009 110915009 single base substitution A G intron_variant OV-AU 2 110927088 110927088 single base substitution C G intron_variant OV-AU 2 110927994 110927994 single base substitution G A intron_variant OV-AU 2 110932663 110932663 single base substitution T G downstream_gene_variant OV-AU 2 110932663 110932663 single base substitution T G intron_variant OV-AU 2 110934493 110934493 single base substitution G C downstream_gene_variant OV-AU 2 110934493 110934493 single base substitution G C intron_variant OV-AU 2 110940847 110940847 single base substitution G C intron_variant OV-AU 2 110941010 110941010 single base substitution T A intron_variant OV-AU 2 110942400 110942400 single base substitution G A intron_variant OV-AU 2 110944280 110944280 single base substitution C A intron_variant OV-AU 2 110946131 110946131 single base substitution A T intron_variant OV-AU 2 110962663 110962663 single base substitution C G upstream_gene_variant OV-AU 2 110964069 110964069 single base substitution A T upstream_gene_variant OV-AU 2 110965862 110965862 single base substitution A G upstream_gene_variant OV-US 2 110927403 110927403 single base substitution C G exon_variant OV-US 2 110927403 110927403 single base substitution C G missense_variant V106L 316G>C OV-US 2 110927403 110927403 single base substitution C G missense_variant V168L 502G>C PACA-AU 2 110876217 110876217 single base substitution A T downstream_gene_variant PACA-AU 2 110877306 110877306 single base substitution G C downstream_gene_variant PACA-AU 2 110880430 110880430 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 2 110880430 110880430 deletion of <=200bp A - downstream_gene_variant PACA-AU 2 110886678 110886678 single base substitution A C exon_variant PACA-AU 2 110886678 110886678 single base substitution A C intron_variant PACA-AU 2 110888111 110888111 single base substitution C T intron_variant PACA-AU 2 110888111 110888111 single base substitution C T upstream_gene_variant PACA-AU 2 110894849 110894849 single base substitution T G intron_variant PACA-AU 2 110897606 110897606 single base substitution G A intron_variant PACA-AU 2 110901156 110901156 insertion of <=200bp - GT exon_variant PACA-AU 2 110901156 110901156 insertion of <=200bp - GT frameshift_variant L435H? PACA-AU 2 110901156 110901156 insertion of <=200bp - GT frameshift_variant L497H? PACA-AU 2 110901156 110901156 insertion of <=200bp - GT frameshift_variant L498H? PACA-AU 2 110901156 110901156 insertion of <=200bp - GT frameshift_variant L553H? PACA-AU 2 110901156 110901156 insertion of <=200bp - GT frameshift_variant L554H? PACA-AU 2 110908505 110908505 single base substitution G A intron_variant PACA-AU 2 110912960 110912960 single base substitution T A intron_variant PACA-AU 2 110913749 110913749 single base substitution G A intron_variant PACA-AU 2 110915218 110915218 single base substitution C A intron_variant PACA-AU 2 110915219 110915219 single base substitution C A intron_variant PACA-AU 2 110917904 110917904 single base substitution G A intron_variant PACA-AU 2 110922055 110922055 single base substitution C G exon_variant PACA-AU 2 110922055 110922055 single base substitution C G intron_variant PACA-AU 2 110922088 110922088 single base substitution A T exon_variant PACA-AU 2 110922088 110922088 single base substitution A T intron_variant PACA-AU 2 110922667 110922667 single base substitution C T exon_variant PACA-AU 2 110922667 110922667 single base substitution C T synonymous_variant A168A 504G>A PACA-AU 2 110922667 110922667 single base substitution C T synonymous_variant A230A 690G>A PACA-AU 2 110923217 110923217 single base substitution G T intron_variant PACA-AU 2 110930881 110930881 insertion of <=200bp - AT downstream_gene_variant PACA-AU 2 110930881 110930881 insertion of <=200bp - AT intron_variant PACA-AU 2 110933570 110933570 single base substitution C G downstream_gene_variant PACA-AU 2 110933570 110933570 single base substitution C G intron_variant PACA-AU 2 110935544 110935544 single base substitution C A downstream_gene_variant PACA-AU 2 110935544 110935544 single base substitution C A intron_variant PACA-AU 2 110938383 110938383 single base substitution G A intron_variant PACA-AU 2 110942956 110942956 single base substitution C A intron_variant PACA-AU 2 110943278 110943278 single base substitution T C intron_variant PACA-AU 2 110945340 110945340 single base substitution C T intron_variant PACA-AU 2 110947270 110947270 single base substitution C T intron_variant PACA-AU 2 110951497 110951497 single base substitution C T intron_variant PACA-AU 2 110958012 110958012 single base substitution C T intron_variant PACA-AU 2 110962555 110962568 deletion of <=200bp TGCGGTGCTCTGAT - 5_prime_UTR_variant PACA-AU 2 110962555 110962568 deletion of <=200bp TGCGGTGCTCTGAT - exon_variant PACA-AU 2 110962555 110962568 deletion of <=200bp TGCGGTGCTCTGAT - upstream_gene_variant PACA-AU 2 110963642 110963642 single base substitution G A upstream_gene_variant PACA-AU 2 110963643 110963643 single base substitution C T upstream_gene_variant PACA-AU 2 110966572 110966572 single base substitution T C upstream_gene_variant PACA-CA 2 110877617 110877617 single base substitution G C downstream_gene_variant PACA-CA 2 110877654 110877654 single base substitution C G downstream_gene_variant PACA-CA 2 110879068 110879068 single base substitution G T downstream_gene_variant PACA-CA 2 110891192 110891197 deletion of <=200bp AAGACC - intron_variant PACA-CA 2 110891192 110891197 deletion of <=200bp AAGACC - upstream_gene_variant PACA-CA 2 110891202 110891206 deletion of <=200bp GTTGA - intron_variant PACA-CA 2 110891202 110891206 deletion of <=200bp GTTGA - upstream_gene_variant PACA-CA 2 110893824 110893824 single base substitution C G intron_variant PACA-CA 2 110895610 110895610 single base substitution G A intron_variant PACA-CA 2 110896807 110896810 deletion of <=200bp CACG - intron_variant PACA-CA 2 110899601 110899601 single base substitution T G intron_variant PACA-CA 2 110907856 110907856 single base substitution G C intron_variant PACA-CA 2 110908378 110908378 single base substitution C T intron_variant PACA-CA 2 110908384 110908384 single base substitution C T intron_variant PACA-CA 2 110910492 110910492 deletion of <=200bp A - intron_variant PACA-CA 2 110912951 110912951 single base substitution C T intron_variant PACA-CA 2 110913709 110913709 single base substitution C T intron_variant PACA-CA 2 110916945 110916945 single base substitution T C intron_variant PACA-CA 2 110921666 110921666 single base substitution T C exon_variant PACA-CA 2 110921666 110921666 single base substitution T C intron_variant PACA-CA 2 110937237 110937237 single base substitution T A 3_prime_UTR_variant PACA-CA 2 110937237 110937237 single base substitution T A exon_variant PACA-CA 2 110937237 110937237 single base substitution T A intron_variant PACA-CA 2 110937237 110937237 single base substitution T A synonymous_variant I56I 168A>T PACA-CA 2 110938321 110938321 single base substitution C T intron_variant PACA-CA 2 110941953 110941953 single base substitution C T intron_variant PACA-CA 2 110944419 110944419 deletion of <=200bp A - intron_variant PACA-CA 2 110944423 110944423 single base substitution A G intron_variant PACA-CA 2 110946094 110946094 insertion of <=200bp - A intron_variant PACA-CA 2 110950304 110950304 single base substitution G A intron_variant PACA-CA 2 110954030 110954030 single base substitution A T intron_variant PACA-CA 2 110957202 110957202 single base substitution C A intron_variant PACA-CA 2 110965463 110965463 single base substitution C T upstream_gene_variant PACA-CA 2 110967332 110967332 deletion of <=200bp A - upstream_gene_variant PAEN-IT 2 110905512 110905512 single base substitution C A exon_variant PAEN-IT 2 110905512 110905512 single base substitution C A missense_variant G354V 1061G>T PAEN-IT 2 110905512 110905512 single base substitution C A missense_variant G416V 1247G>T PAEN-IT 2 110905512 110905512 single base substitution C A missense_variant G417V 1250G>T PAEN-IT 2 110905512 110905512 single base substitution C A missense_variant G472V 1415G>T PAEN-IT 2 110905512 110905512 single base substitution C A missense_variant G473V 1418G>T PAEN-IT 2 110905512 110905512 single base substitution C A upstream_gene_variant PAEN-IT 2 110948229 110948229 single base substitution G T intron_variant PBCA-DE 2 110888801 110888801 single base substitution C T intron_variant PBCA-DE 2 110888801 110888801 single base substitution C T upstream_gene_variant PBCA-DE 2 110896272 110896272 single base substitution C T intron_variant PBCA-DE 2 110903796 110903796 single base substitution C A intron_variant PBCA-DE 2 110903796 110903796 single base substitution C A upstream_gene_variant PBCA-DE 2 110923481 110923481 single base substitution C T intron_variant PBCA-DE 2 110923867 110923867 single base substitution G A intron_variant PBCA-DE 2 110926819 110926819 single base substitution A T intron_variant PBCA-DE 2 110928247 110928247 single base substitution C T intron_variant PBCA-DE 2 110930220 110930220 single base substitution G A intron_variant PBCA-DE 2 110930746 110930746 insertion of <=200bp - G downstream_gene_variant PBCA-DE 2 110930746 110930746 insertion of <=200bp - G intron_variant PBCA-DE 2 110947182 110947182 single base substitution G A intron_variant PBCA-DE 2 110959402 110959402 deletion of <=200bp A - intron_variant PBCA-DE 2 110964145 110964145 insertion of <=200bp - A upstream_gene_variant PBCA-DE 2 110965060 110965060 single base substitution C T upstream_gene_variant PRAD-CA 2 110911592 110911592 single base substitution G T intron_variant PRAD-CA 2 110938975 110938975 single base substitution A G intron_variant PRAD-CA 2 110956012 110956012 single base substitution G A intron_variant PRAD-CA 2 110960901 110960901 single base substitution T A intron_variant PRAD-UK 2 110878193 110878193 single base substitution G C downstream_gene_variant PRAD-UK 2 110917816 110917816 single base substitution C A exon_variant PRAD-UK 2 110917816 110917816 single base substitution C A missense_variant S261I 782G>T PRAD-UK 2 110917816 110917816 single base substitution C A missense_variant S323I 968G>T PRAD-UK 2 110917816 110917816 single base substitution C A missense_variant S324I 971G>T PRAD-UK 2 110917816 110917816 single base substitution C A missense_variant S379I 1136G>T PRAD-UK 2 110917816 110917816 single base substitution C A missense_variant S380I 1139G>T PRAD-UK 2 110922262 110922262 single base substitution C T exon_variant PRAD-UK 2 110922262 110922262 single base substitution C T splice_region_variant PRAD-UK 2 110922262 110922262 single base substitution C T synonymous_variant A258A 774G>A PRAD-UK 2 110928318 110928318 single base substitution G A intron_variant PRAD-UK 2 110929502 110929502 single base substitution G A intron_variant PRAD-UK 2 110944477 110944477 single base substitution A C intron_variant PRAD-UK 2 110946104 110946104 single base substitution G A intron_variant PRAD-UK 2 110947458 110947458 single base substitution A C intron_variant PRAD-UK 2 110950650 110950650 single base substitution C T intron_variant PRAD-UK 2 110953327 110953327 single base substitution A G intron_variant READ-US 2 110901134 110901134 single base substitution G T exon_variant READ-US 2 110901134 110901134 single base substitution G T stop_gained S442* 1325C>A READ-US 2 110901134 110901134 single base substitution G T stop_gained S504* 1511C>A READ-US 2 110901134 110901134 single base substitution G T stop_gained S505* 1514C>A READ-US 2 110901134 110901134 single base substitution G T stop_gained S560* 1679C>A READ-US 2 110901134 110901134 single base substitution G T stop_gained S561* 1682C>A RECA-EU 2 110888225 110888225 single base substitution T C intron_variant RECA-EU 2 110888225 110888225 single base substitution T C upstream_gene_variant RECA-EU 2 110888769 110888769 single base substitution T A intron_variant RECA-EU 2 110888769 110888769 single base substitution T A upstream_gene_variant RECA-EU 2 110906340 110906340 single base substitution C A intron_variant RECA-EU 2 110906340 110906340 single base substitution C A upstream_gene_variant RECA-EU 2 110906900 110906900 single base substitution C T intron_variant RECA-EU 2 110906900 110906900 single base substitution C T upstream_gene_variant RECA-EU 2 110910444 110910444 single base substitution T A intron_variant RECA-EU 2 110914662 110914662 single base substitution T G intron_variant RECA-EU 2 110916806 110916806 single base substitution C T intron_variant RECA-EU 2 110923819 110923819 single base substitution C G intron_variant RECA-EU 2 110964514 110964514 single base substitution A G upstream_gene_variant RECA-EU 2 110966132 110966132 single base substitution C G upstream_gene_variant SKCA-BR 2 110875195 110875205 deletion of <=200bp TGTGTGTGAGA - downstream_gene_variant SKCA-BR 2 110875700 110875700 single base substitution G A downstream_gene_variant SKCA-BR 2 110876167 110876167 single base substitution G A downstream_gene_variant SKCA-BR 2 110877457 110877457 single base substitution G A downstream_gene_variant SKCA-BR 2 110879084 110879084 single base substitution G A downstream_gene_variant SKCA-BR 2 110879409 110879409 single base substitution A G downstream_gene_variant SKCA-BR 2 110882622 110882622 single base substitution T A downstream_gene_variant SKCA-BR 2 110882622 110882622 single base substitution T A exon_variant SKCA-BR 2 110882622 110882622 single base substitution T A intron_variant SKCA-BR 2 110888949 110888949 single base substitution G A intron_variant SKCA-BR 2 110888949 110888949 single base substitution G A upstream_gene_variant SKCA-BR 2 110890328 110890328 single base substitution G A intron_variant SKCA-BR 2 110890328 110890328 single base substitution G A upstream_gene_variant SKCA-BR 2 110892543 110892543 single base substitution G A intron_variant SKCA-BR 2 110893411 110893411 single base substitution G A intron_variant SKCA-BR 2 110893929 110893929 single base substitution G A intron_variant SKCA-BR 2 110899567 110899567 single base substitution G A intron_variant SKCA-BR 2 110900149 110900149 single base substitution G A intron_variant SKCA-BR 2 110901411 110901411 single base substitution T C exon_variant SKCA-BR 2 110901411 110901411 single base substitution T C intron_variant SKCA-BR 2 110904021 110904021 single base substitution A C intron_variant SKCA-BR 2 110904021 110904021 single base substitution A C upstream_gene_variant SKCA-BR 2 110906205 110906205 single base substitution G A intron_variant SKCA-BR 2 110906205 110906205 single base substitution G A upstream_gene_variant SKCA-BR 2 110906811 110906811 single base substitution G A intron_variant SKCA-BR 2 110906811 110906811 single base substitution G A upstream_gene_variant SKCA-BR 2 110909822 110909822 single base substitution G A intron_variant SKCA-BR 2 110909852 110909852 single base substitution G A intron_variant SKCA-BR 2 110910176 110910176 insertion of <=200bp - TA intron_variant SKCA-BR 2 110911258 110911258 single base substitution T C intron_variant SKCA-BR 2 110912656 110912656 single base substitution G A intron_variant SKCA-BR 2 110912657 110912657 single base substitution G A intron_variant SKCA-BR 2 110912924 110912924 single base substitution G A intron_variant SKCA-BR 2 110912935 110912935 single base substitution T G intron_variant SKCA-BR 2 110913321 110913321 single base substitution C T intron_variant SKCA-BR 2 110921071 110921071 insertion of <=200bp - AT exon_variant SKCA-BR 2 110921071 110921071 insertion of <=200bp - AT intron_variant SKCA-BR 2 110921153 110921153 single base substitution G A exon_variant SKCA-BR 2 110921153 110921153 single base substitution G A intron_variant SKCA-BR 2 110921873 110921873 single base substitution C A exon_variant SKCA-BR 2 110921873 110921873 single base substitution C A intron_variant SKCA-BR 2 110922366 110922366 single base substitution G A intron_variant SKCA-BR 2 110925454 110925454 single base substitution T G intron_variant SKCA-BR 2 110925612 110925612 single base substitution G A intron_variant SKCA-BR 2 110925981 110925981 insertion of <=200bp - CA intron_variant SKCA-BR 2 110932734 110932734 single base substitution A G downstream_gene_variant SKCA-BR 2 110932734 110932734 single base substitution A G intron_variant SKCA-BR 2 110934682 110934682 single base substitution G A downstream_gene_variant SKCA-BR 2 110934682 110934682 single base substitution G A intron_variant SKCA-BR 2 110937291 110937291 single base substitution G A intron_variant SKCA-BR 2 110937313 110937313 single base substitution G A intron_variant SKCA-BR 2 110937594 110937594 single base substitution A T intron_variant SKCA-BR 2 110937869 110937869 single base substitution C T intron_variant SKCA-BR 2 110939385 110939385 single base substitution G A intron_variant SKCA-BR 2 110940092 110940092 single base substitution A G intron_variant SKCA-BR 2 110941189 110941189 single base substitution G A intron_variant SKCA-BR 2 110941920 110941920 single base substitution G A intron_variant SKCA-BR 2 110941921 110941921 single base substitution G A intron_variant SKCA-BR 2 110942496 110942496 single base substitution G A intron_variant SKCA-BR 2 110943386 110943386 single base substitution A C intron_variant SKCA-BR 2 110944978 110944978 single base substitution G A intron_variant SKCA-BR 2 110946407 110946407 single base substitution G A intron_variant SKCA-BR 2 110947174 110947174 single base substitution A C intron_variant SKCA-BR 2 110947941 110947941 single base substitution C T intron_variant SKCA-BR 2 110949226 110949226 single base substitution G A intron_variant SKCA-BR 2 110950146 110950146 single base substitution T C intron_variant SKCA-BR 2 110952212 110952212 single base substitution G A intron_variant SKCA-BR 2 110952275 110952275 single base substitution C A intron_variant SKCA-BR 2 110952776 110952776 single base substitution G A intron_variant SKCA-BR 2 110953607 110953607 single base substitution G A intron_variant SKCA-BR 2 110956800 110956800 single base substitution G A intron_variant SKCA-BR 2 110957104 110957104 single base substitution A G intron_variant SKCA-BR 2 110957269 110957269 single base substitution G A intron_variant SKCA-BR 2 110957340 110957340 single base substitution G A intron_variant SKCA-BR 2 110961114 110961114 single base substitution C T intron_variant SKCA-BR 2 110962123 110962123 single base substitution G A intron_variant SKCA-BR 2 110964864 110964864 single base substitution A T upstream_gene_variant SKCA-BR 2 110965197 110965204 deletion of <=200bp TGTTGGCA - upstream_gene_variant SKCA-BR 2 110965361 110965361 single base substitution G A upstream_gene_variant SKCA-BR 2 110965858 110965858 single base substitution G A upstream_gene_variant SKCA-BR 2 110966755 110966755 single base substitution A T upstream_gene_variant SKCM-US 2 110881626 110881626 single base substitution G A downstream_gene_variant SKCM-US 2 110881626 110881626 single base substitution G A exon_variant SKCM-US 2 110881626 110881626 single base substitution G A synonymous_variant F529F 1587C>T SKCM-US 2 110881626 110881626 single base substitution G A synonymous_variant F592F 1776C>T SKCM-US 2 110881626 110881626 single base substitution G A synonymous_variant F626F 1878C>T SKCM-US 2 110881626 110881626 single base substitution G A synonymous_variant F647F 1941C>T SKCM-US 2 110881626 110881626 single base substitution G A synonymous_variant F648F 1944C>T SKCM-US 2 110901148 110901148 single base substitution G A exon_variant SKCM-US 2 110901148 110901148 single base substitution G A synonymous_variant S437S 1311C>T SKCM-US 2 110901148 110901148 single base substitution G A synonymous_variant S499S 1497C>T SKCM-US 2 110901148 110901148 single base substitution G A synonymous_variant S500S 1500C>T SKCM-US 2 110901148 110901148 single base substitution G A synonymous_variant S555S 1665C>T SKCM-US 2 110901148 110901148 single base substitution G A synonymous_variant S556S 1668C>T SKCM-US 2 110902115 110902115 single base substitution G A exon_variant SKCM-US 2 110902115 110902115 single base substitution G A missense_variant P399S 1195C>T SKCM-US 2 110902115 110902115 single base substitution G A missense_variant P461S 1381C>T SKCM-US 2 110902115 110902115 single base substitution G A missense_variant P462S 1384C>T SKCM-US 2 110902115 110902115 single base substitution G A missense_variant P517S 1549C>T SKCM-US 2 110902115 110902115 single base substitution G A missense_variant P518S 1552C>T SKCM-US 2 110904336 110904336 single base substitution G A exon_variant SKCM-US 2 110904336 110904336 single base substitution G A missense_variant P386L 1157C>T SKCM-US 2 110904336 110904336 single base substitution G A missense_variant P448L 1343C>T SKCM-US 2 110904336 110904336 single base substitution G A missense_variant P449L 1346C>T SKCM-US 2 110904336 110904336 single base substitution G A missense_variant P504L 1511C>T SKCM-US 2 110904336 110904336 single base substitution G A missense_variant P505L 1514C>T SKCM-US 2 110904336 110904336 single base substitution G A upstream_gene_variant SKCM-US 2 110904405 110904405 single base substitution C T exon_variant SKCM-US 2 110904405 110904405 single base substitution C T missense_variant G363D 1088G>A SKCM-US 2 110904405 110904405 single base substitution C T missense_variant G425D 1274G>A SKCM-US 2 110904405 110904405 single base substitution C T missense_variant G426D 1277G>A SKCM-US 2 110904405 110904405 single base substitution C T missense_variant G481D 1442G>A SKCM-US 2 110904405 110904405 single base substitution C T missense_variant G482D 1445G>A SKCM-US 2 110904405 110904405 single base substitution C T upstream_gene_variant SKCM-US 2 110905497 110905497 single base substitution C T exon_variant SKCM-US 2 110905497 110905497 single base substitution C T missense_variant R359H 1076G>A SKCM-US 2 110905497 110905497 single base substitution C T missense_variant R421H 1262G>A SKCM-US 2 110905497 110905497 single base substitution C T missense_variant R422H 1265G>A SKCM-US 2 110905497 110905497 single base substitution C T missense_variant R477H 1430G>A SKCM-US 2 110905497 110905497 single base substitution C T missense_variant R478H 1433G>A SKCM-US 2 110905497 110905497 single base substitution C T upstream_gene_variant SKCM-US 2 110919263 110919263 single base substitution G A exon_variant SKCM-US 2 110919263 110919263 single base substitution G A stop_gained R228* 682C>T SKCM-US 2 110919263 110919263 single base substitution G A stop_gained R290* 868C>T SKCM-US 2 110919263 110919263 single base substitution G A stop_gained R291* 871C>T SKCM-US 2 110919263 110919263 single base substitution G A stop_gained R346* 1036C>T SKCM-US 2 110919263 110919263 single base substitution G A stop_gained R347* 1039C>T SKCM-US 2 110922252 110922252 single base substitution A T exon_variant SKCM-US 2 110922252 110922252 single base substitution A T intron_variant SKCM-US 2 110922252 110922252 single base substitution A T missense_variant C262S 784T>A SKCM-US 2 110922710 110922710 single base substitution C T exon_variant SKCM-US 2 110922710 110922710 single base substitution C T missense_variant G154D 461G>A SKCM-US 2 110922710 110922710 single base substitution C T missense_variant G216D 647G>A SKCM-US 2 110926051 110926051 single base substitution A C exon_variant SKCM-US 2 110926051 110926051 single base substitution A C missense_variant L139R 416T>G SKCM-US 2 110926051 110926051 single base substitution A C missense_variant L201R 602T>G SKCM-US 2 110927431 110927431 single base substitution G A exon_variant SKCM-US 2 110927431 110927431 single base substitution G A synonymous_variant I158I 474C>T SKCM-US 2 110927431 110927431 single base substitution G A synonymous_variant I96I 288C>T SKCM-US 2 110936067 110936067 single base substitution G A downstream_gene_variant SKCM-US 2 110936067 110936067 single base substitution G A exon_variant SKCM-US 2 110936067 110936067 single base substitution G A intron_variant SKCM-US 2 110936067 110936067 single base substitution G A missense_variant L88F 262C>T STAD-US 2 110881384 110881384 single base substitution C T downstream_gene_variant STAD-US 2 110881384 110881384 single base substitution C T exon_variant STAD-US 2 110881384 110881384 single base substitution C T missense_variant R610K 1829G>A STAD-US 2 110881384 110881384 single base substitution C T missense_variant R673K 2018G>A STAD-US 2 110881384 110881384 single base substitution C T missense_variant R707K 2120G>A STAD-US 2 110881384 110881384 single base substitution C T missense_variant R728K 2183G>A STAD-US 2 110881384 110881384 single base substitution C T missense_variant R729K 2186G>A STAD-US 2 110901211 110901211 single base substitution G A exon_variant STAD-US 2 110901211 110901211 single base substitution G A synonymous_variant G416G 1248C>T STAD-US 2 110901211 110901211 single base substitution G A synonymous_variant G478G 1434C>T STAD-US 2 110901211 110901211 single base substitution G A synonymous_variant G479G 1437C>T STAD-US 2 110901211 110901211 single base substitution G A synonymous_variant G534G 1602C>T STAD-US 2 110901211 110901211 single base substitution G A synonymous_variant G535G 1605C>T STAD-US 2 110926098 110926098 insertion of <=200bp - T exon_variant STAD-US 2 110926098 110926098 insertion of <=200bp - T frameshift_variant K123K? STAD-US 2 110926098 110926098 insertion of <=200bp - T frameshift_variant K185K? STAD-US 2 110927445 110927445 single base substitution C T exon_variant STAD-US 2 110927445 110927445 single base substitution C T missense_variant G154S 460G>A STAD-US 2 110927445 110927445 single base substitution C T missense_variant G92S 274G>A UCEC-US 2 110902078 110902078 single base substitution G A exon_variant UCEC-US 2 110902078 110902078 single base substitution G A missense_variant S411F 1232C>T UCEC-US 2 110902078 110902078 single base substitution G A missense_variant S473F 1418C>T UCEC-US 2 110902078 110902078 single base substitution G A missense_variant S474F 1421C>T UCEC-US 2 110902078 110902078 single base substitution G A missense_variant S529F 1586C>T UCEC-US 2 110902078 110902078 single base substitution G A missense_variant S530F 1589C>T UCEC-US 2 110905498 110905498 single base substitution G A exon_variant UCEC-US 2 110905498 110905498 single base substitution G A missense_variant R359C 1075C>T UCEC-US 2 110905498 110905498 single base substitution G A missense_variant R421C 1261C>T UCEC-US 2 110905498 110905498 single base substitution G A missense_variant R422C 1264C>T UCEC-US 2 110905498 110905498 single base substitution G A missense_variant R477C 1429C>T UCEC-US 2 110905498 110905498 single base substitution G A missense_variant R478C 1432C>T UCEC-US 2 110905498 110905498 single base substitution G A upstream_gene_variant UCEC-US 2 110907760 110907760 single base substitution T C missense_variant Q323R 968A>G UCEC-US 2 110907760 110907760 single base substitution T C missense_variant Q385R 1154A>G UCEC-US 2 110907760 110907760 single base substitution T C missense_variant Q386R 1157A>G UCEC-US 2 110907760 110907760 single base substitution T C missense_variant Q441R 1322A>G UCEC-US 2 110907760 110907760 single base substitution T C missense_variant Q442R 1325A>G UCEC-US 2 110907760 110907760 single base substitution T C splice_region_variant UCEC-US 2 110922126 110922126 single base substitution T C exon_variant UCEC-US 2 110922126 110922126 single base substitution T C intron_variant UCEC-US 2 110922126 110922126 single base substitution T C missense_variant I304V 910A>G UCEC-US 2 110922275 110922275 single base substitution G A exon_variant UCEC-US 2 110922275 110922275 single base substitution G A missense_variant A192V 575C>T UCEC-US 2 110922275 110922275 single base substitution G A missense_variant A254V 761C>T UCEC-US 2 110922295 110922295 single base substitution G A exon_variant UCEC-US 2 110922295 110922295 single base substitution G A synonymous_variant H185H 555C>T UCEC-US 2 110922295 110922295 single base substitution G A synonymous_variant H247H 741C>T UCEC-US 2 110936074 110936074 single base substitution C T downstream_gene_variant UCEC-US 2 110936074 110936074 single base substitution C T exon_variant UCEC-US 2 110936074 110936074 single base substitution C T intron_variant UCEC-US 2 110936074 110936074 single base substitution C T synonymous_variant E85E 255G>A UCEC-US 2 110936076 110936076 single base substitution C T downstream_gene_variant UCEC-US 2 110936076 110936076 single base substitution C T exon_variant UCEC-US 2 110936076 110936076 single base substitution C T intron_variant UCEC-US 2 110936076 110936076 single base substitution C T missense_variant E85K 253G>A UCEC-US 2 110959016 110959016 single base substitution C A 3_prime_UTR_variant UCEC-US 2 110959016 110959016 single base substitution C A exon_variant UCEC-US 2 110959016 110959016 single base substitution C A missense_variant R42I 125G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BN37 COSM1613286 c.1377T>C p.S459S Substitution - coding silent 2:110147976-110147976 - HCC078T COSM5806461 c.689C>A p.A230E Substitution - Missense 2:110165091-110165091 - BCM711T COSM4956025 c.1243G>A p.G415S Substitution - Missense 2:110160135-110160135 - NCI-H727 COSM2982952 c.757A>G p.K253E Substitution - Missense 2:110164702-110164702 - CHC793T COSM4801320 c.1998C>T p.H666H Substitution - coding silent 2:110123995-110123995 - TCGA-AP-A0LM-01 COSM1005355 c.1432C>T p.R478C Substitution - Missense 2:110147921-110147921 - sysucc-311T COSM5465008 c.107C>A p.A36D Substitution - Missense 2:110201457-110201457 - TCGA-AZ-4315-01 COSM1398756 c.1048T>C p.Y350H Substitution - Missense 2:110161677-110161677 - YULAN COSM1690886 c.982C>T p.P328S Substitution - Missense 2:110163093-110163093 - PET124T COSM5825312 c.1418G>T p.G473V Substitution - Missense 2:110147935-110147935 - TCGA-BC-A10W-01 COSM4937333 c.1999T>C p.S667P Substitution - Missense 2:110123994-110123994 - 275 COSM145688 c.1078C>A p.Q360K Substitution - Missense 2:110161647-110161647 - TCGA-D3-A3C3-06 COSM3565198 c.1514C>T p.P505L Substitution - Missense 2:110146759-110146759 - SNU-C2B COSM2982933 c.1604G>A p.G535D Substitution - Missense 2:110143635-110143635 - YUKLAB COSM1690885 c.1825C>T p.P609S Substitution - Missense 2:110129245-110129245 - T2269 COSM4707798 c.1424C>A p.S475Y Substitution - Missense 2:110147929-110147929 - YUROS COSM1217699 c.1039C>T p.R347* Substitution - Nonsense 2:110161686-110161686 - CSCC-20-T COSM1217699 c.1039C>T p.R347* Substitution - Nonsense 2:110161686-110161686 - DLBCL785 COSM1581346 c.22G>A p.D8N Substitution - Missense 2:110204947-110204947 - CHC2034T COSM4789815 c.1459T>C p.L487L Substitution - coding silent 2:110146814-110146814 - sysucc-1067T COSM5479823 c.1317T>C p.F439F Substitution - coding silent 2:110150191-110150191 - TCGA-AN-A046-01 COSM1005355 c.1432C>T p.R478C Substitution - Missense 2:110147921-110147921 - TCGA-B5-A0JY-01 COSM1005354 c.1589C>T p.S530F Substitution - Missense 2:110144501-110144501 - TCGA-EB-A24D-01 COSM3565201 c.647G>A p.G216D Substitution - Missense 2:110165133-110165133 - TCGA-G3-A25U-01 COSM4910904 c.108T>C p.A36A Substitution - coding silent 2:110201456-110201456 - CHC892T COSM4960628 c.1641G>A p.Q547Q Substitution - coding silent 2:110143598-110143598 - TCGA-CA-6718-01 COSM1398755 c.1536C>A p.F512L Substitution - Missense 2:110144554-110144554 - 0110_CRUK_PC_0110_T1_DNA COSM4707800 c.774G>A p.A258A Substitution - coding silent 2:110164685-110164685 - TCGA-B5-A11H-01 COSM1005356 c.1325A>G p.Q442R Substitution - Missense 2:110150183-110150183 - TCGA-24-1425-01 COSM75639 c.502G>C p.V168L Substitution - Missense 2:110169826-110169826 - TCGA-IR-A3LK-01 COSM4816850 c.902G>C p.R301T Substitution - Missense 2:110164557-110164557 - TCGA-AA-3697-01 COSM1398757 c.625-1G>A p.? Unknown 2:110165156-110165156 - CHC793T COSM4801320 c.1998C>T p.H666H Substitution - coding silent 2:110123995-110123995 - BCM711T COSM4956025 c.1243G>A p.G415S Substitution - Missense 2:110160135-110160135 - TCGA-AP-A056-01 COSM1005361 c.255G>A p.E85E Substitution - coding silent 2:110178497-110178497 - TCGA-BH-A18G-01 COSM3836567 c.1548T>C p.G516G Substitution - coding silent 2:110144542-110144542 - LUAD-CHTN-MAD06-00668 COSM359498 c.1890G>C p.S630S Substitution - coding silent 2:110125676-110125676 - SNUH_G15_S1 COSM3682268 c.779T>G p.I260S Substitution - Missense 2:110164680-110164680 - B9 COSM1745386 c.692delT p.V231fs*42 Deletion - Frameshift 2:110165088-110165088 - TCGA-EK-A2PG-01 COSM4819685 c.2035G>C p.E679Q Substitution - Missense 2:110123958-110123958 - CHC1028T COSM4790881 c.449A>T p.K150I Substitution - Missense 2:110169879-110169879 - TCGA-D8-A1XK-01 COSM2982956 c.555delA p.K185fs*7 Deletion - Frameshift 2:110168521-110168521 - HCT116 COSM4632269 c.2051G>A p.R684Q Substitution - Missense 2:110123942-110123942 - TARGET-30-PASWIJ COSM1286683 c.2005C>T p.R669C Substitution - Missense 2:110123988-110123988 - 587376 COSM1217698 c.1598-1G>A p.? Unknown 2:110143642-110143642 - CHC884T COSM4958335 c.1398T>C p.L466L Substitution - coding silent 2:110147955-110147955 - TCGA-D9-A6EC-06 COSM4400154 c.602T>G p.L201R Substitution - Missense 2:110168474-110168474 - CSCC-4-T COSM4529701 c.1634G>A p.R545K Substitution - Missense 2:110143605-110143605 - ESCC_80 COSM5635778 c.1902A>C p.K634N Substitution - Missense 2:110125664-110125664 - 8031085 COSM3390856 c.690G>A p.A230A Substitution - coding silent 2:110165090-110165090 - T3118 COSM1005358 c.761C>T p.A254V Substitution - Missense 2:110164698-110164698 - ESCC_161 COSM5647641 c.1939G>C p.E647Q Substitution - Missense 2:110124054-110124054 - 449 COSM4340334 c.830G>A p.R277Q Substitution - Missense 2:110164629-110164629 - TCGA-GN-A26C-01 COSM1217699 c.1039C>T p.R347* Substitution - Nonsense 2:110161686-110161686 - XHDG39 COSM4769956 c.1358G>A p.G453D Substitution - Missense 2:110147995-110147995 - TCGA-AA-A010-01 COSM283338 c.470A>G p.Y157C Substitution - Missense 2:110169858-110169858 - PD9755a COSM5795704 c.420G>A p.E140E Substitution - coding silent 2:110169908-110169908 - BD152T COSM5506798 c.1805G>A p.S602N Substitution - Missense 2:110131684-110131684 - 587376 COSM1217699 c.1039C>T p.R347* Substitution - Nonsense 2:110161686-110161686 - 476 COSM3719072 c.2141C>A p.P714H Substitution - Missense 2:110123852-110123852 - T1743 COSM4707800 c.774G>A p.A258A Substitution - coding silent 2:110164685-110164685 - TCGA-K4-A3WS-01 COSM3797838 c.1955C>G p.T652R Substitution - Missense 2:110124038-110124038 - 2492713 COSM5718562 c.90G>A p.E30E Substitution - coding silent 2:110201474-110201474 - NCI-H835 COSM2982948 c.872C>G p.T291R Substitution - Missense 2:110164587-110164587 - TCGA-F5-6814-01 COSM3425101 c.1682C>A p.S561* Substitution - Nonsense 2:110143557-110143557 - TCGA-FW-A3R5-06 COSM3894515 c.1552C>T p.P518S Substitution - Missense 2:110144538-110144538 - 8057574 COSM3772394 c.939+9T>A p.? Unknown 2:110164511-110164511 - HCC021T COSM5815464 c.1462A>T p.S488C Substitution - Missense 2:110146811-110146811 - TCGA-BS-A0UF-01 COSM1005363 c.125G>T p.R42I Substitution - Missense 2:110201439-110201439 - 587376 COSM1217697 c.1889C>T p.S630L Substitution - Missense 2:110125677-110125677 - TCGA-BR-8680-01 COSM4084163 c.1605C>T p.G535G Substitution - coding silent 2:110143634-110143634 - LUAD-S01302 COSM395920 c.804G>A p.S268S Substitution - coding silent 2:110164655-110164655 - TCGA-AP-A059-01 COSM1005357 c.910A>G p.I304V Substitution - Missense 2:110164549-110164549 - DLBCL835 COSM1581345 c.1004C>T p.T335M Substitution - Missense 2:110163071-110163071 - T1154 COSM2982956 c.555delA p.K185fs*7 Deletion - Frameshift 2:110168521-110168521 - 19M COSM5579117 c.503T>C p.V168A Substitution - Missense 2:110169825-110169825 - J30_T COSM3960965 c.531A>T p.E177D Substitution - Missense 2:110168545-110168545 - 2492721 COSM5723580 c.1189C>T p.P397S Substitution - Missense 2:110160189-110160189 - TCGA-C8-A3M7-01 COSM3836566 c.1733C>T p.S578F Substitution - Missense 2:110131756-110131756 - TCGA-FR-A2OS-01 COSM3565199 c.1433G>A p.R478H Substitution - Missense 2:110147920-110147920 - SNU-175 COSM2982950 c.829C>T p.R277* Substitution - Nonsense 2:110164630-110164630 - 172T COSM1725919 c.343A>G p.T115A Substitution - Missense 2:110169985-110169985 - TCGA-CW-6090-01 COSM475759 c.814C>A p.L272I Substitution - Missense 2:110164645-110164645 - TCGA-EB-A299-01 COSM1217699 c.1039C>T p.R347* Substitution - Nonsense 2:110161686-110161686 - RK001_C01 COSM1631244 c.334G>A p.G112R Substitution - Missense 2:110169994-110169994 - TCGA-37-3789-01 COSM714775 c.537C>A p.L179L Substitution - coding silent 2:110168539-110168539 - 587234 COSM1217696 c.1372A>G p.R458G Substitution - Missense 2:110147981-110147981 - TCGA-66-2754-01 COSM714776 c.1884+1G>A p.? Unknown 2:110129185-110129185 - BCB325T COSM4949735 c.1496C>T p.A499V Substitution - Missense 2:110146777-110146777 - SK-MEL-5 COSM1669210 c.508G>A p.D170N Substitution - Missense 2:110169820-110169820 - NB-0462 COSM1286682 c.1606A>C p.S536R Substitution - Missense 2:110143633-110143633 - BN37T COSM1613286 c.1377T>C p.S459S Substitution - coding silent 2:110147976-110147976 - TCGA-AY-6196-01 COSM1398759 c.64C>T p.Q22* Substitution - Nonsense 2:110204905-110204905 - sysucc-311T COSM5465001 c.1572A>C p.E524D Substitution - Missense 2:110144518-110144518 - PD10060a COSM3719072 c.2141C>A p.P714H Substitution - Missense 2:110123852-110123852 - YUKIL COSM1690885 c.1825C>T p.P609S Substitution - Missense 2:110129245-110129245 - TCGA-FW-A3R5-06 COSM3894514 c.1668C>T p.S556S Substitution - coding silent 2:110143571-110143571 - TCGA-D1-A167-01 COSM1005359 c.741C>T p.H247H Substitution - coding silent 2:110164718-110164718 - FR-CLL_5 COSM4340334 c.830G>A p.R277Q Substitution - Missense 2:110164629-110164629 - CHC1028T COSM4790881 c.449A>T p.K150I Substitution - Missense 2:110169879-110169879 - PTC-77C COSM4132986 c.46C>T p.R16C Substitution - Missense 2:110204923-110204923 - PCSI_0628_Pa_P_526 COSM5946223 c.168A>T p.I56I Substitution - coding silent 2:110179660-110179660 - BD95T COSM5505597 c.55G>C p.E19Q Substitution - Missense 2:110204914-110204914 - LUAD-YINHD COSM350350 c.2019C>G p.F673L Substitution - Missense 2:110123974-110123974 - TARGET-30-PARACR COSM1286681 c.1033C>A p.Q345K Substitution - Missense 2:110161692-110161692 - 783_T COSM3960964 c.1040G>T p.R347L Substitution - Missense 2:110161685-110161685 - TCGA-D3-A3MR-06 COSM1217699 c.1039C>T p.R347* Substitution - Nonsense 2:110161686-110161686 - TCGA-A3-3363-01 COSM1494470 c.8C>T p.A3V Substitution - Missense 2:110204961-110204961 - YULONE COSM5394114 c.2106C>T p.L702L Substitution - coding silent 2:110123887-110123887 - CSCC-10-T COSM4553393 c.589G>A p.G197R Substitution - Missense 2:110168487-110168487 - ESO-120 COSM1259386 c.1123-2A>T p.? Unknown 2:110160257-110160257 - CHC2034T COSM4789815 c.1459T>C p.L487L Substitution - coding silent 2:110146814-110146814 - 2492729 COSM5727459 c.1546G>A p.G516S Substitution - Missense 2:110144544-110144544 - TCGA-HE-A5NI-01 COSM3894516 c.262C>T p.L88F Substitution - Missense 2:110178490-110178490 - TCGA-AA-3973-01 COSM297380 c.762G>A p.A254A Substitution - coding silent 2:110164697-110164697 - TCGA-41-6646-01 COSM2982950 c.829C>T p.R277* Substitution - Nonsense 2:110164630-110164630 - TCGA-MH-A55W-01 COSM3990512 c.834T>A p.N278K Substitution - Missense 2:110164625-110164625 - sysucc-1188T COSM5480049 c.1867G>A p.V623M Substitution - Missense 2:110129203-110129203 - S02350 COSM5694738 c.2065A>G p.T689A Substitution - Missense 2:110123928-110123928 - TCGA-04-1367-01 COSM71871 c.818T>G p.I273R Substitution - Missense 2:110164641-110164641 - N637T COSM236507 c.338C>A p.A113E Substitution - Missense 2:110169990-110169990 - Pat_70_B COSM5859880 c.644_646delAAG p.E215delE Deletion - In frame 2:110165134-110165136 - TCGA-B5-A0JN-01 COSM1005360 c.525A>G p.K175K Substitution - coding silent 2:110168551-110168551 - SNU-175 COSM2982949 c.842A>G p.E281G Substitution - Missense 2:110164617-110164617 - CHEWS003 COSM4582567 c.979A>G p.I327V Substitution - Missense 2:110163096-110163096 - TCGA-HU-A4G6-01 COSM4084162 c.2186G>A p.R729K Substitution - Missense 2:110123807-110123807 - RK022_C01 COSM1631243 c.1810G>C p.D604H Substitution - Missense 2:110131679-110131679 - Pat_41_B COSM5859881 c.523-1G>A p.? Unknown 2:110168554-110168554 - NB07C COSM1236475 c.1520+4A>C p.? Unknown 2:110146749-110146749 - 8013014 COSM3772394 c.939+9T>A p.? Unknown 2:110164511-110164511 - LIM1215 COSM1398758 c.555_556insA p.P186fs*2 Insertion - Frameshift 2:110168520-110168521 - TCGA-EE-A2A0-06 COSM3565197 c.1944C>T p.F648F Substitution - coding silent 2:110124049-110124049 - CSCC-7-T COSM4473348 c.1844C>T p.P615L Substitution - Missense 2:110129226-110129226 - LUAD-LIP77 COSM342393 c.114A>T p.E38D Substitution - Missense 2:110201450-110201450 - PD13760a COSM5796749 c.691G>T p.V231L Substitution - Missense 2:110165089-110165089 - TCGA-EE-A3AA-06 COSM2982936 c.1445G>A p.G482D Substitution - Missense 2:110146828-110146828 - QC2-32-T2 COSM5653856 c.654G>A p.E218E Substitution - coding silent 2:110165126-110165126 - YUAVEY COSM569445 c.2125G>A p.D709N Substitution - Missense 2:110123868-110123868 - TCGA-BR-4184-01 COSM4084164 c.460G>A p.G154S Substitution - Missense 2:110169868-110169868 - TCGA-B6-A0IK-01 COSM440978 c.1225C>T p.R409C Substitution - Missense 2:110160153-110160153 - TCGA-BP-4998-01 COSM475758 c.1084G>A p.A362T Substitution - Missense 2:110161641-110161641 - 2492712 COSM5718562 c.90G>A p.E30E Substitution - coding silent 2:110201474-110201474 - CHC884T COSM4958335 c.1398T>C p.L466L Substitution - coding silent 2:110147955-110147955 - TCGA-BP-5198-01 COSM475760 c.557C>A p.P186H Substitution - Missense 2:110168519-110168519 - HCC77T COSM1613287 c.624+10G>T p.? Unknown 2:110168442-110168442 - TCGA-BR-8591-01 COSM4084164 c.460G>A p.G154S Substitution - Missense 2:110169868-110169868 - TCGA-B5-A11N-01 COSM1005362 c.253G>A p.E85K Substitution - Missense 2:110178499-110178499 - BCB325T COSM4949735 c.1496C>T p.A499V Substitution - Missense 2:110146777-110146777 - TCGA-D9-A6EC-06 COSM1217699 c.1039C>T p.R347* Substitution - Nonsense 2:110161686-110161686 - 01-P459 COSM3565202 c.474C>T p.I158I Substitution - coding silent 2:110169854-110169854 - PT36 COSM5914975 c.624G>A p.E208E Substitution - coding silent 2:110168452-110168452 - 2492714 COSM5718562 c.90G>A p.E30E Substitution - coding silent 2:110201474-110201474 - TCGA-ER-A2ND-06 COSM3565200 c.784T>A p.C262S Substitution - Missense 2:110164675-110164675 - YUPROST COSM1690887 c.155T>C p.L52S Substitution - Missense 2:110179673-110179673 - GC_351T-GC_351N COSM4773936 c.2100C>T p.G700G Substitution - coding silent 2:110123893-110123893 - HT115 COSM2982923 c.2060T>G p.V687G Substitution - Missense 2:110123933-110123933 - TCGA-EB-A44P-01 COSM3565202 c.474C>T p.I158I Substitution - coding silent 2:110169854-110169854 - C086 COSM5535567 c.1418G>A p.G473E Substitution - Missense 2:110147935-110147935 - 2492722 COSM5723580 c.1189C>T p.P397S Substitution - Missense 2:110160189-110160189 - LUAD-F00365 COSM340612 c.1428_1429TA>TC p.Y476>? Complex 2:110147924-110147925 - UM-SCC-17B COSM4598300 c.2020A>T p.R674W Substitution - Missense 2:110123973-110123973 - TCGA-ES-A2HT-01 COSM4938449 c.597A>G p.E199E Substitution - coding silent 2:110168479-110168479 - TCGA-AP-A056-01 COSM1005358 c.761C>T p.A254V Substitution - Missense 2:110164698-110164698 - DLBCL829 COSM1581344 c.1587A>G p.I529M Substitution - Missense 2:110144503-110144503 - 275-01-2TD COSM145688 c.1078C>A p.Q360K Substitution - Missense 2:110161647-110161647 - UM-SCC-17B COSM4599104 c.1649T>C p.L550P Substitution - Missense 2:110143590-110143590 - TCGA-EE-A3JE-06 COSM3894516 c.262C>T p.L88F Substitution - Missense 2:110178490-110178490 - CHC892T COSM4960628 c.1641G>A p.Q547Q Substitution - coding silent 2:110143598-110143598 - SNU-C4 COSM2982925 c.2029G>C p.E677Q Substitution - Missense 2:110123964-110123964 - HCC022T COSM5817796 c.1079A>T p.Q360L Substitution - Missense 2:110161646-110161646 - HT115 COSM297380 c.762G>A p.A254A Substitution - coding silent 2:110164697-110164697 - T613 COSM4707799 c.776G>A p.G259D Substitution - Missense 2:110164683-110164683 - OSCC-GB_00610111 COSM4886678 c.1685G>C p.R562T Substitution - Missense 2:110143554-110143554 - HCC055T COSM5823923 c.539T>A p.L180H Substitution - Missense 2:110168537-110168537 - LUAD_E00623 COSM354208 c.1360G>T p.D454Y Substitution - Missense 2:110147993-110147993 - TCGA-A8-A09Z-01 COSM3836568 c.1080A>G p.Q360Q Substitution - coding silent 2:110161645-110161645 - 2492720 COSM5723580 c.1189C>T p.P397S Substitution - Missense 2:110160189-110160189 - 2492723 COSM5723580 c.1189C>T p.P397S Substitution - Missense 2:110160189-110160189 - HCC066T COSM5821570 c.2139A>T p.E713D Substitution - Missense 2:110123854-110123854 - PD13752a COSM5777043 c.1027+8G>A p.? Unknown 2:110163040-110163040 - 2492711 COSM5718562 c.90G>A p.E30E Substitution - coding silent 2:110201474-110201474 - CSCC-49-T COSM4452272 c.1739A>C p.H580P Substitution - Missense 2:110131750-110131750 - PD13760a COSM5786851 c.690G>T p.A230A Substitution - coding silent 2:110165090-110165090 - CSB21 COSM5025692 c.346G>T p.E116* Substitution - Nonsense 2:110169982-110169982 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.280388 2q13 607100

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I273R c.818T>G 2 110922218 OV A C Missense p.M393R c.1178T>G 2 110917777 LUAD A G Missense p.F413L c.1237T>C 2 110917718 COREAD A - IntronicDeletion . c.1884+91delT 2 110886672 ESCA A T Missense p.C262S c.784T>A 2 110922252 CM A T Missense p.F715L c.2145T>A 2 110881425 LUAD C A Missense p.R7L c.20G>T 2 110962526 HNSC C A Missense p.V502F c.1504G>T 2 110904346 LUAD C A Nonsense p.E116* c.346G>T 2 110927559 BRCA C A Synonymous p.A258A c.774G>T 2 110922262 CM C G IntronicSNV . c.144-4895G>C 2 110942156 CM C G Missense p.D414H c.1240G>C 2 110917715 MM C G Missense p.D604H c.1810G>C 2 110889256 HC C G Missense p.V168L c.502G>C 2 110927403 OV C T IntronicSNV . c.1929+355G>A 2 110882859 MM C T Missense p.A362T c.1084G>A 2 110919218 RCCC C T Missense p.D709N c.2125G>A 2 110881445 LUAD C T Missense p.G112R c.334G>A 2 110927571 HC C T Missense p.G216D c.647G>A 2 110922710 CM C T Missense p.G482D c.1445G>A 2 110904405 CM C T Missense p.R478H c.1433G>A 2 110905497 CM C T SpliceDonorSNV . c.1884+1G>A 2 110886762 LUSC C T Synonymous p.A254A c.762G>A 2 110922274 COREAD C T Synonymous p.E647E c.1941G>A 2 110881629 CM G A IntronicSNV . c.144-4916C>T 2 110942177 CM G A IntronicSNV . c.144-5027C>T 2 110942288 CM G A IntronicSNV . c.144-5295C>T 2 110942556 CM G A IntronicSNV . c.1929+28C>T 2 110883186 CM G A IntronicSNV . c.1930-226C>T 2 110881866 DLBCL G A IntronicSNV . c.939+97C>T 2 110922000 CM G A Missense p.L88F c.262C>T 2 110936067 CM G A Missense p.P395L c.1184C>T 2 110917771 CM G A Missense p.P441S c.1321C>T 2 110907764 BRCA G A Missense p.P505L c.1514C>T 2 110904336 CM G A Missense p.P663S c.1987C>T 2 110881583 CM G A Missense p.R409C c.1225C>T 2 110917730 BRCA G A Missense p.R669C c.2005C>T 2 110881565 NB G A Nonsense p.R277* c.829C>T 2 110922207 GBM G A Nonsense p.R347* c.1039C>T 2 110919263 CM G A Synonymous p.F648F c.1944C>T 2 110881626 CM G A Synonymous p.L340L c.1018C>T 2 110920634 CM G - Frameshift p.P310Lfs*6 c.929delC 2 110922107 RCCC G T Missense p.L272I c.814C>A 2 110922222 RCCC G T Missense p.P186H c.557C>A 2 110926096 RCCC G T Missense p.Q345K c.1033C>A 2 110919269 NB G T Missense p.Q360K c.1078C>A 2 110919224 CLL G T Synonymous p.L179L c.537C>A 2 110926116 LUSC G T Synonymous p.T613T c.1839C>A 2 110886808 LUAD T A SpliceAcceptorSNV . c.1123-2A>T 2 110917834 ESCA T C IntronicSNV . c.143+9302A>G 2 110949696 CLL T C Missense p.Q442R c.1325A>G 2 110907760 UCEC T G Missense p.L638F c.1914A>C 2 110883229 CM T G Missense p.S536R c.1606A>C 2 110901210 NB T - IntronicDeletion . c.1929+352delA 2 110882862 STAD