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 110053528 110053528 + Missense_Mutation SNP C C G TCGA-OR-A5J6-01A-31D-A29I-10 TCGA-OR-A5J6-10A-01D-A29L-10 g.chr2:110053528C>G c.1754C>G c.(1753-1755)tCg>tGg p.S585W BLCA 2 110015235 110015235 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 g.chr2:110015235C>T c.1135C>T c.(1135-1137)Cgc>Tgc p.R379C COAD 2 109746189 109746189 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:109746189G>A c.193G>A c.(193-195)Gac>Aac p.D65N COAD 2 109746196 109746196 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr2:109746196C>T c.200C>T c.(199-201)aCg>aTg p.T67M COAD 2 109746233 109746233 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:109746233C>T c.237C>T c.(235-237)cgC>cgT p.R79R COAD 2 109964226 109964226 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr2:109964226C>T c.670C>T c.(670-672)Cgg>Tgg p.R224W COAD 2 109964230 109964230 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr2:109964230G>A c.674G>A c.(673-675)cGc>cAc p.R225H COAD 2 109964319 109964319 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:109964319C>T c.763C>T c.(763-765)Cca>Tca p.P255S COAD 2 109964325 109964325 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr2:109964325G>A c.769G>A c.(769-771)Gcc>Acc p.A257T COAD 2 109964330 109964330 + Silent SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr2:109964330G>A c.774G>A c.(772-774)ccG>ccA p.P258P COAD 2 109964358 109964358 + Missense_Mutation SNP G G A TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr2:109964358G>A c.802G>A c.(802-804)Gag>Aag p.E268K COAD 2 110015235 110015235 + Missense_Mutation SNP C C T TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr2:110015235C>T c.1135C>T c.(1135-1137)Cgc>Tgc p.R379C COAD 2 110015235 110015235 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:110015235C>T c.1135C>T c.(1135-1137)Cgc>Tgc p.R379C COAD 2 110036027 110036027 + Silent SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr2:110036027G>A c.1332G>A c.(1330-1332)acG>acA p.T444T COAD 2 110048996 110048996 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:110048996C>T c.1443C>T c.(1441-1443)gaC>gaT p.D481D COAD 2 110065682 110065682 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:110065682C>T c.1885C>T c.(1885-1887)Cgc>Tgc p.R629C COAD 2 110065801 110065801 + Silent SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr2:110065801C>T c.2004C>T c.(2002-2004)ctC>ctT p.L668L COAD 2 110065862 110065862 + Missense_Mutation SNP G G C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:110065862G>C c.2065G>C c.(2065-2067)Gct>Cct p.A689P COAD 2 110065927 110065927 + Missense_Mutation SNP C C A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:110065927C>A c.2130C>A c.(2128-2130)gaC>gaA p.D710E COAD 2 110259085 110259085 + Missense_Mutation SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr2:110259085G>A c.2486G>A c.(2485-2487)cGc>cAc p.R829H COAD 2 110259086 110259086 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:110259086C>T c.2487C>T c.(2485-2487)cgC>cgT p.R829R COADREAD 2 109746189 109746189 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:109746189G>A c.193G>A c.(193-195)Gac>Aac p.D65N COADREAD 2 109746196 109746196 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr2:109746196C>T c.200C>T c.(199-201)aCg>aTg p.T67M COADREAD 2 109746233 109746233 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:109746233C>T c.237C>T c.(235-237)cgC>cgT p.R79R COADREAD 2 109964226 109964226 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr2:109964226C>T c.670C>T c.(670-672)Cgg>Tgg p.R224W COADREAD 2 109964230 109964230 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr2:109964230G>A c.674G>A c.(673-675)cGc>cAc p.R225H COADREAD 2 109964319 109964319 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:109964319C>T c.763C>T c.(763-765)Cca>Tca p.P255S COADREAD 2 109964325 109964325 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr2:109964325G>A c.769G>A c.(769-771)Gcc>Acc p.A257T COADREAD 2 109964330 109964330 + Silent SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr2:109964330G>A c.774G>A c.(772-774)ccG>ccA p.P258P COADREAD 2 109964358 109964358 + Missense_Mutation SNP G G A TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr2:109964358G>A c.802G>A c.(802-804)Gag>Aag p.E268K COADREAD 2 110015096 110015096 + Silent SNP C C T TCGA-DC-5869-01A-01D-1657-10 TCGA-DC-5869-10A-01D-1657-10 g.chr2:110015096C>T c.996C>T c.(994-996)gcC>gcT p.A332A COADREAD 2 110015235 110015235 + Missense_Mutation SNP C C T TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr2:110015235C>T c.1135C>T c.(1135-1137)Cgc>Tgc p.R379C COADREAD 2 110015235 110015235 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:110015235C>T c.1135C>T c.(1135-1137)Cgc>Tgc p.R379C COADREAD 2 110036027 110036027 + Silent SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr2:110036027G>A c.1332G>A c.(1330-1332)acG>acA p.T444T COADREAD 2 110048996 110048996 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:110048996C>T c.1443C>T c.(1441-1443)gaC>gaT p.D481D COADREAD 2 110065656 110065656 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr2:110065656G>A c.1859G>A c.(1858-1860)cGg>cAg p.R620Q COADREAD 2 110065682 110065682 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:110065682C>T c.1885C>T c.(1885-1887)Cgc>Tgc p.R629C COADREAD 2 110065801 110065801 + Silent SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr2:110065801C>T c.2004C>T c.(2002-2004)ctC>ctT p.L668L COADREAD 2 110065862 110065862 + Missense_Mutation SNP G G C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:110065862G>C c.2065G>C c.(2065-2067)Gct>Cct p.A689P COADREAD 2 110065927 110065927 + Missense_Mutation SNP C C A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:110065927C>A c.2130C>A c.(2128-2130)gaC>gaA p.D710E COADREAD 2 110259085 110259085 + Missense_Mutation SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr2:110259085G>A c.2486G>A c.(2485-2487)cGc>cAc p.R829H COADREAD 2 110259086 110259086 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:110259086C>T c.2487C>T c.(2485-2487)cgC>cgT p.R829R COADREAD 2 110259191 110259191 + Silent SNP C C G TCGA-F5-6811-01A-11D-1826-10 TCGA-F5-6811-10A-01D-1826-10 g.chr2:110259191C>G c.2592C>G c.(2590-2592)acC>acG p.T864T DLBC 2 110049003 110049003 + Missense_Mutation SNP G G A TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr2:110049003G>A c.1450G>A c.(1450-1452)Gag>Aag p.E484K DLBC 2 110065649 110065649 + Missense_Mutation SNP C C G TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr2:110065649C>G c.1852C>G c.(1852-1854)Cag>Gag p.Q618E DLBC 2 110065896 110065896 + Missense_Mutation SNP C C T TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr2:110065896C>T c.2099C>T c.(2098-2100)tCc>tTc p.S700F ESCA 2 110065908 110065908 + Missense_Mutation SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 g.chr2:110065908A>C c.2111A>C c.(2110-2112)aAc>aCc p.N704T GBM 2 110015136 110015136 + Missense_Mutation SNP G G A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 g.chr2:110015136G>A c.1036G>A c.(1036-1038)Ggc>Agc p.G346S GBMLGG 2 110015136 110015136 + Missense_Mutation SNP G G A TCGA-06-6693-01A-11D-1845-08 TCGA-06-6693-10A-01D-1845-08 g.chr2:110015136G>A c.1036G>A c.(1036-1038)Ggc>Agc p.G346S GBMLGG 2 110015264 110015264 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:110015264G>A c.1164G>A c.(1162-1164)acG>acA p.T388T GBMLGG 2 110036088 110036088 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:110036088C>T c.1393C>T c.(1393-1395)Ccc>Tcc p.P465S GBMLGG 2 110065843 110065843 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:110065843C>A c.2046C>A c.(2044-2046)gcC>gcA p.A682A HNSC 2 109964267 109964267 + Silent SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 g.chr2:109964267C>T c.711C>T c.(709-711)caC>caT p.H237H HNSC 2 109964286 109964286 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr2:109964286C>T c.730C>T c.(730-732)Cca>Tca p.P244S HNSC 2 109988086 109988086 + Silent SNP G G T TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr2:109988086G>T c.894G>T c.(892-894)gcG>gcT p.A298A HNSC 2 110015122 110015122 + Missense_Mutation SNP T T G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 g.chr2:110015122T>G c.1022T>G c.(1021-1023)cTg>cGg p.L341R HNSC 2 110015235 110015235 + Missense_Mutation SNP C C T TCGA-CV-6959-01A-11D-1912-08 TCGA-CV-6959-10A-01D-1912-08 g.chr2:110015235C>T c.1135C>T c.(1135-1137)Cgc>Tgc p.R379C HNSC 2 110036087 110036088 + Frame_Shift_Ins INS - - T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 g.chr2:110036087_110036088insT c.1392_1393insT c.(1393-1395)cccfs p.P465fs HNSC 2 110053585 110053585 + Missense_Mutation SNP G G C TCGA-CV-6939-01A-11D-1912-08 TCGA-CV-6939-10A-01D-1912-08 g.chr2:110053585G>C c.1811G>C c.(1810-1812)cGg>cCg p.R604P KIPAN 2 110053415 110053415 + Silent SNP G G T TCGA-BP-4992-01A-01D-1462-08 TCGA-BP-4992-11A-01D-1462-08 g.chr2:110053415G>T c.1641G>T c.(1639-1641)ggG>ggT p.G547G KIRC 2 110053415 110053415 + Silent SNP G G T TCGA-BP-4992-01A-01D-1462-08 TCGA-BP-4992-11A-01D-1462-08 g.chr2:110053415G>T c.1641G>T c.(1639-1641)ggG>ggT p.G547G LGG 2 110015264 110015264 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:110015264G>A c.1164G>A c.(1162-1164)acG>acA p.T388T LGG 2 110036088 110036088 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:110036088C>T c.1393C>T c.(1393-1395)Ccc>Tcc p.P465S LGG 2 110065843 110065843 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:110065843C>A c.2046C>A c.(2044-2046)gcC>gcA p.A682A LIHC 2 109964272 109964272 + Missense_Mutation SNP C C A TCGA-DD-AADI-01A-11D-A40R-10 TCGA-DD-AADI-10A-01D-A40U-10 g.chr2:109964272C>A c.716C>A c.(715-717)aCa>aAa p.T239K LIHC 2 109964388 109964388 + Missense_Mutation SNP T T A TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr2:109964388T>A c.832T>A c.(832-834)Tgt>Agt p.C278S LIHC 2 110015186 110015186 + Silent SNP G G T TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr2:110015186G>T c.1086G>T c.(1084-1086)gcG>gcT p.A362A LIHC 2 110015366 110015366 + Missense_Mutation SNP C C G TCGA-QA-A7B7-01A-11D-A32G-10 TCGA-QA-A7B7-10A-01D-A32G-10 g.chr2:110015366C>G c.1266C>G c.(1264-1266)gaC>gaG p.D422E LIHC 2 110049067 110049067 + Missense_Mutation SNP C C T TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr2:110049067C>T c.1514C>T c.(1513-1515)gCg>gTg p.A505V LIHC 2 110053581 110053581 + Missense_Mutation SNP G G T TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr2:110053581G>T c.1807G>T c.(1807-1809)Gcc>Tcc p.A603S LIHC 2 110259210 110259210 + Missense_Mutation SNP A A G TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr2:110259210A>G c.2611A>G c.(2611-2613)Aca>Gca p.T871A LUAD 2 109964268 109964268 + Missense_Mutation SNP G G A TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr2:109964268G>A c.712G>A c.(712-714)Ggc>Agc p.G238S LUAD 2 109988056 109988056 + Frame_Shift_Del DEL G G - TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr2:109988056delG c.864delG c.(862-864)acgfs p.T288fs LUAD 2 109988086 109988086 + Silent SNP G G A TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr2:109988086G>A c.894G>A c.(892-894)gcG>gcA p.A298A LUAD 2 110015057 110015057 + Silent SNP C C A TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr2:110015057C>A c.957C>A c.(955-957)tcC>tcA p.S319S LUAD 2 110015186 110015186 + Silent SNP G G T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr2:110015186G>T c.1086G>T c.(1084-1086)gcG>gcT p.A362A LUAD 2 110015211 110015211 + Missense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 g.chr2:110015211G>A c.1111G>A c.(1111-1113)Gat>Aat p.D371N LUAD 2 110048969 110048969 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr2:110048969C>G c.1416C>G c.(1414-1416)ctC>ctG p.L472L LUAD 2 110053404 110053404 + Missense_Mutation SNP C C A TCGA-95-7562-01A-11D-2238-08 TCGA-95-7562-10B-01D-2238-08 g.chr2:110053404C>A c.1630C>A c.(1630-1632)Ctg>Atg p.L544M LUAD 2 110053474 110053474 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr2:110053474G>T c.1700G>T c.(1699-1701)aGg>aTg p.R567M LUAD 2 110065636 110065636 + Silent SNP T T A TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr2:110065636T>A c.1839T>A c.(1837-1839)tcT>tcA p.S613S LUSC 2 110015230 110015230 + Missense_Mutation SNP A A T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr2:110015230A>T c.1130A>T c.(1129-1131)aAg>aTg p.K377M LUSC 2 110049062 110049062 + Missense_Mutation SNP G G C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr2:110049062G>C c.1509G>C c.(1507-1509)aaG>aaC p.K503N OV 2 109964171 109964171 + Silent SNP C C T TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 g.chr2:109964171C>T c.615C>T c.(613-615)taC>taT p.Y205Y OV 2 109964296 109964296 + Missense_Mutation SNP A A G TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 g.chr2:109964296A>G c.740A>G c.(739-741)tAt>tGt p.Y247C OV 2 110015215 110015215 + Missense_Mutation SNP G G T TCGA-04-1648-01A-01W-0639-09 TCGA-04-1648-11A-01W-0639-09 g.chr2:110015215G>T c.1115G>T c.(1114-1116)gGc>gTc p.G372V OV 2 110065917 110065917 + Missense_Mutation SNP G G A TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 g.chr2:110065917G>A c.2120G>A c.(2119-2121)tGc>tAc p.C707Y PAAD 2 109964294 109964294 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:109964294C>T c.738C>T c.(736-738)agC>agT p.S246S PAAD 2 110036048 110036048 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:110036048G>A c.1353G>A c.(1351-1353)tcG>tcA p.S451S PAAD 2 110065683 110065683 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:110065683G>A c.1886G>A c.(1885-1887)cGc>cAc p.R629H READ 2 110015096 110015096 + Silent SNP C C T TCGA-DC-5869-01A-01D-1657-10 TCGA-DC-5869-10A-01D-1657-10 g.chr2:110015096C>T c.996C>T c.(994-996)gcC>gcT p.A332A READ 2 110065656 110065656 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr2:110065656G>A c.1859G>A c.(1858-1860)cGg>cAg p.R620Q READ 2 110259191 110259191 + Silent SNP C C G TCGA-F5-6811-01A-11D-1826-10 TCGA-F5-6811-10A-01D-1826-10 g.chr2:110259191C>G c.2592C>G c.(2590-2592)acC>acG p.T864T SKCM 2 109964176 109964176 + Missense_Mutation SNP G G A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr2:109964176G>A c.620G>A c.(619-621)gGg>gAg p.G207E SKCM 2 109964349 109964349 + Missense_Mutation SNP T T C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr2:109964349T>C c.793T>C c.(793-795)Tat>Cat p.Y265H SKCM 2 110015347 110015347 + Missense_Mutation SNP C C T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 g.chr2:110015347C>T c.1247C>T c.(1246-1248)gCc>gTc p.A416V SKCM 2 110049062 110049062 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr2:110049062G>A c.1509G>A c.(1507-1509)aaG>aaA p.K503K SKCM 2 110049065 110049065 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr2:110049065G>A c.1512G>A c.(1510-1512)ggG>ggA p.G504G SKCM 2 110049072 110049072 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 g.chr2:110049072C>T c.1519C>T c.(1519-1521)Ctg>Ttg p.L507L SKCM 2 110053528 110053528 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:110053528C>T c.1754C>T c.(1753-1755)tCg>tTg p.S585L SKCM 2 110065723 110065723 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr2:110065723C>T c.1926C>T c.(1924-1926)ctC>ctT p.L642L SKCM 2 110065788 110065788 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:110065788C>T c.1991C>T c.(1990-1992)cCg>cTg p.P664L SKCM 2 110259097 110259097 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr2:110259097C>T c.2498C>T c.(2497-2499)tCg>tTg p.S833L

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 110015235 110015235 single base substitution C T missense_variant R379C 1135C>T BOCA-FR 2 109765053 109765053 single base substitution A T intron_variant BOCA-FR 2 109860982 109860982 single base substitution C T intron_variant BOCA-FR 2 109946157 109946157 single base substitution G T intron_variant BOCA-FR 2 109959486 109959486 single base substitution G C intron_variant BOCA-FR 2 110035232 110035232 single base substitution G A intron_variant BRCA-EU 2 109740910 109740910 single base substitution G A upstream_gene_variant BRCA-EU 2 109741716 109741716 single base substitution G C upstream_gene_variant BRCA-EU 2 109742528 109742528 single base substitution C T upstream_gene_variant BRCA-EU 2 109743020 109743020 single base substitution G C upstream_gene_variant BRCA-EU 2 109743649 109743649 single base substitution A C upstream_gene_variant BRCA-EU 2 109746795 109746795 single base substitution G A intron_variant BRCA-EU 2 109747468 109747468 insertion of <=200bp - A intron_variant BRCA-EU 2 109747696 109747696 single base substitution G A intron_variant BRCA-EU 2 109747697 109747697 single base substitution C G intron_variant BRCA-EU 2 109747707 109747707 insertion of <=200bp - T intron_variant BRCA-EU 2 109748277 109748277 single base substitution G A intron_variant BRCA-EU 2 109750079 109750079 single base substitution C T intron_variant BRCA-EU 2 109750759 109750759 single base substitution G A intron_variant BRCA-EU 2 109750990 109750990 single base substitution G A intron_variant BRCA-EU 2 109751007 109751007 single base substitution G A intron_variant BRCA-EU 2 109752124 109752124 insertion of <=200bp - G intron_variant BRCA-EU 2 109752683 109752683 deletion of <=200bp A - intron_variant BRCA-EU 2 109752683 109752683 insertion of <=200bp - A intron_variant BRCA-EU 2 109753266 109753266 single base substitution G A intron_variant BRCA-EU 2 109753369 109753369 single base substitution G A intron_variant BRCA-EU 2 109754229 109754229 single base substitution G A intron_variant BRCA-EU 2 109754442 109754442 single base substitution C A intron_variant BRCA-EU 2 109754627 109754627 single base substitution A G intron_variant BRCA-EU 2 109755924 109755924 single base substitution G A intron_variant BRCA-EU 2 109758795 109758795 single base substitution A G intron_variant BRCA-EU 2 109759134 109759134 single base substitution G C intron_variant BRCA-EU 2 109759505 109759505 insertion of <=200bp - T intron_variant BRCA-EU 2 109759621 109759621 single base substitution T A intron_variant BRCA-EU 2 109759990 109759990 single base substitution G T intron_variant BRCA-EU 2 109760630 109760647 deletion of <=200bp CTAAAAGAATAGATTTTA - intron_variant BRCA-EU 2 109760666 109760666 single base substitution C G intron_variant BRCA-EU 2 109762120 109762120 single base substitution C A intron_variant BRCA-EU 2 109762275 109762275 single base substitution T A intron_variant BRCA-EU 2 109762408 109762408 single base substitution G T intron_variant BRCA-EU 2 109762909 109762909 single base substitution G T intron_variant BRCA-EU 2 109764158 109764158 single base substitution G A intron_variant BRCA-EU 2 109764455 109764455 single base substitution C T intron_variant BRCA-EU 2 109765581 109765581 single base substitution G A intron_variant BRCA-EU 2 109765833 109765860 deletion of <=200bp TTCGTTATTAATAACGTAGCTATTAATA - intron_variant BRCA-EU 2 109767254 109767254 single base substitution C G intron_variant BRCA-EU 2 109767273 109767273 single base substitution G A intron_variant BRCA-EU 2 109767759 109767759 insertion of <=200bp - T intron_variant BRCA-EU 2 109768257 109768257 single base substitution A G intron_variant BRCA-EU 2 109769104 109769104 single base substitution T A intron_variant BRCA-EU 2 109769372 109769372 single base substitution G A intron_variant BRCA-EU 2 109771239 109771239 single base substitution G A intron_variant BRCA-EU 2 109772225 109772225 single base substitution C G intron_variant BRCA-EU 2 109773881 109773881 single base substitution C A intron_variant BRCA-EU 2 109774324 109774324 single base substitution C A intron_variant BRCA-EU 2 109776930 109776930 single base substitution A G intron_variant BRCA-EU 2 109778164 109778164 single base substitution G A intron_variant BRCA-EU 2 109778311 109778311 single base substitution G A intron_variant BRCA-EU 2 109778852 109778852 single base substitution T A intron_variant BRCA-EU 2 109779669 109779669 single base substitution C A intron_variant BRCA-EU 2 109780346 109780346 single base substitution A C intron_variant BRCA-EU 2 109780922 109780922 single base substitution G A intron_variant BRCA-EU 2 109781002 109781002 single base substitution T G intron_variant BRCA-EU 2 109782070 109782070 single base substitution C G intron_variant BRCA-EU 2 109782350 109782350 single base substitution G C intron_variant BRCA-EU 2 109782497 109782497 single base substitution A G intron_variant BRCA-EU 2 109783619 109783619 single base substitution C T intron_variant BRCA-EU 2 109783689 109783689 deletion of <=200bp T - intron_variant BRCA-EU 2 109784470 109784470 single base substitution A G intron_variant BRCA-EU 2 109784631 109784631 single base substitution G C intron_variant BRCA-EU 2 109784833 109784833 single base substitution T G intron_variant BRCA-EU 2 109785577 109785577 single base substitution G C intron_variant BRCA-EU 2 109787936 109787936 single base substitution C A intron_variant BRCA-EU 2 109788033 109788033 single base substitution G T intron_variant BRCA-EU 2 109790139 109790139 single base substitution A G intron_variant BRCA-EU 2 109790634 109790634 single base substitution G A intron_variant BRCA-EU 2 109793161 109793161 single base substitution C T intron_variant BRCA-EU 2 109793603 109793603 deletion of <=200bp C - intron_variant BRCA-EU 2 109794870 109794870 deletion of <=200bp T - intron_variant BRCA-EU 2 109795119 109795119 single base substitution C T intron_variant BRCA-EU 2 109795600 109795600 single base substitution G A intron_variant BRCA-EU 2 109795882 109795882 single base substitution G A intron_variant BRCA-EU 2 109796166 109796166 single base substitution C G intron_variant BRCA-EU 2 109797248 109797248 single base substitution G T intron_variant BRCA-EU 2 109797939 109797940 deletion of <=200bp AC - intron_variant BRCA-EU 2 109798196 109798196 single base substitution T G intron_variant BRCA-EU 2 109799364 109799364 single base substitution A G intron_variant BRCA-EU 2 109799380 109799380 single base substitution G A intron_variant BRCA-EU 2 109799487 109799487 single base substitution G T intron_variant BRCA-EU 2 109799689 109799689 single base substitution A G intron_variant BRCA-EU 2 109799960 109799960 single base substitution C A intron_variant BRCA-EU 2 109800727 109800727 single base substitution C G intron_variant BRCA-EU 2 109801342 109801342 single base substitution C T intron_variant BRCA-EU 2 109801409 109801409 single base substitution G A intron_variant BRCA-EU 2 109801583 109801583 single base substitution T C intron_variant BRCA-EU 2 109802500 109802500 single base substitution T C intron_variant BRCA-EU 2 109802842 109802842 single base substitution C G intron_variant BRCA-EU 2 109803448 109803448 single base substitution C T intron_variant BRCA-EU 2 109806683 109806683 single base substitution G T intron_variant BRCA-EU 2 109806722 109806722 single base substitution C T intron_variant BRCA-EU 2 109807560 109807560 single base substitution G T intron_variant BRCA-EU 2 109807642 109807642 single base substitution G C intron_variant BRCA-EU 2 109807752 109807752 single base substitution T C intron_variant BRCA-EU 2 109807969 109807969 insertion of <=200bp - A intron_variant BRCA-EU 2 109808764 109808764 single base substitution G C intron_variant BRCA-EU 2 109809755 109809755 single base substitution G C intron_variant BRCA-EU 2 109809769 109809769 single base substitution T A intron_variant BRCA-EU 2 109809972 109809972 deletion of <=200bp T - intron_variant BRCA-EU 2 109810646 109810666 deletion of <=200bp CAGGCACAGGCACTGCCCGTG - intron_variant BRCA-EU 2 109813966 109813966 single base substitution A C intron_variant BRCA-EU 2 109815371 109815371 single base substitution T A intron_variant BRCA-EU 2 109815571 109815571 single base substitution T G intron_variant BRCA-EU 2 109817084 109817084 single base substitution C A intron_variant BRCA-EU 2 109817215 109817215 single base substitution C A intron_variant BRCA-EU 2 109818618 109818618 single base substitution G A intron_variant BRCA-EU 2 109818827 109818827 single base substitution T A intron_variant BRCA-EU 2 109819361 109819361 single base substitution T C intron_variant BRCA-EU 2 109819906 109819906 single base substitution A G intron_variant BRCA-EU 2 109819981 109819981 single base substitution G A intron_variant BRCA-EU 2 109821139 109821139 single base substitution G A intron_variant BRCA-EU 2 109821702 109821702 single base substitution G C intron_variant BRCA-EU 2 109822836 109822836 single base substitution A C intron_variant BRCA-EU 2 109823111 109823111 single base substitution A T intron_variant BRCA-EU 2 109825794 109825794 single base substitution G C intron_variant BRCA-EU 2 109826184 109826184 single base substitution C T intron_variant BRCA-EU 2 109831078 109831078 single base substitution G C intron_variant BRCA-EU 2 109832159 109832159 single base substitution C T intron_variant BRCA-EU 2 109832851 109832851 single base substitution T C intron_variant BRCA-EU 2 109833221 109833221 single base substitution T A intron_variant BRCA-EU 2 109833712 109833712 single base substitution G A intron_variant BRCA-EU 2 109833740 109833744 deletion of <=200bp TTTTC - intron_variant BRCA-EU 2 109834011 109834011 single base substitution C T intron_variant BRCA-EU 2 109834685 109834685 single base substitution C T intron_variant BRCA-EU 2 109835968 109835968 single base substitution T C intron_variant BRCA-EU 2 109838513 109838513 single base substitution A G intron_variant BRCA-EU 2 109839090 109839090 single base substitution T G intron_variant BRCA-EU 2 109839397 109839397 single base substitution G T intron_variant BRCA-EU 2 109841320 109841320 single base substitution T A intron_variant BRCA-EU 2 109841754 109841754 single base substitution A C intron_variant BRCA-EU 2 109841788 109841788 single base substitution A G intron_variant BRCA-EU 2 109842653 109842653 single base substitution T C intron_variant BRCA-EU 2 109842867 109842867 single base substitution C T intron_variant BRCA-EU 2 109843350 109843350 single base substitution G T intron_variant BRCA-EU 2 109843366 109843366 single base substitution G C intron_variant BRCA-EU 2 109843771 109843771 single base substitution G A intron_variant BRCA-EU 2 109844855 109844855 single base substitution T A intron_variant BRCA-EU 2 109845729 109845729 single base substitution A G intron_variant BRCA-EU 2 109845776 109845776 single base substitution C A intron_variant BRCA-EU 2 109846790 109846790 single base substitution C T intron_variant BRCA-EU 2 109846869 109846869 single base substitution C T intron_variant BRCA-EU 2 109847165 109847165 single base substitution C T intron_variant BRCA-EU 2 109848226 109848226 single base substitution G A intron_variant BRCA-EU 2 109848482 109848482 single base substitution C T intron_variant BRCA-EU 2 109849790 109849790 single base substitution G A intron_variant BRCA-EU 2 109853622 109853622 single base substitution G T intron_variant BRCA-EU 2 109854049 109854049 insertion of <=200bp - T intron_variant BRCA-EU 2 109854657 109854657 deletion of <=200bp A - intron_variant BRCA-EU 2 109855063 109855063 single base substitution G T intron_variant BRCA-EU 2 109855435 109855435 single base substitution T C intron_variant BRCA-EU 2 109855662 109855662 single base substitution G A intron_variant BRCA-EU 2 109856284 109856284 single base substitution G C intron_variant BRCA-EU 2 109857876 109857876 deletion of <=200bp A - intron_variant BRCA-EU 2 109857998 109857998 single base substitution C G intron_variant BRCA-EU 2 109859204 109859204 single base substitution G C intron_variant BRCA-EU 2 109859504 109859504 single base substitution T C intron_variant BRCA-EU 2 109861094 109861094 single base substitution A T intron_variant BRCA-EU 2 109861572 109861572 single base substitution G A intron_variant BRCA-EU 2 109862742 109862742 single base substitution G A intron_variant BRCA-EU 2 109862760 109862760 single base substitution G C intron_variant BRCA-EU 2 109863529 109863529 single base substitution C A intron_variant BRCA-EU 2 109864177 109864180 deletion of <=200bp AGTT - intron_variant BRCA-EU 2 109864218 109864218 single base substitution C T intron_variant BRCA-EU 2 109865269 109865269 single base substitution C T intron_variant BRCA-EU 2 109866250 109866250 single base substitution C G intron_variant BRCA-EU 2 109867228 109867228 insertion of <=200bp - A intron_variant BRCA-EU 2 109867398 109867398 single base substitution G A intron_variant BRCA-EU 2 109867640 109867640 single base substitution G A intron_variant BRCA-EU 2 109867814 109867814 single base substitution C T intron_variant BRCA-EU 2 109867833 109867833 single base substitution G T intron_variant BRCA-EU 2 109869987 109869987 single base substitution C G intron_variant BRCA-EU 2 109870075 109870075 single base substitution C A intron_variant BRCA-EU 2 109870921 109870921 deletion of <=200bp G - intron_variant BRCA-EU 2 109871063 109871063 single base substitution C T intron_variant BRCA-EU 2 109871154 109871154 single base substitution G C intron_variant BRCA-EU 2 109871219 109871219 single base substitution C T intron_variant BRCA-EU 2 109871828 109871828 single base substitution G A intron_variant BRCA-EU 2 109872107 109872107 single base substitution T G intron_variant BRCA-EU 2 109872380 109872380 single base substitution A C intron_variant BRCA-EU 2 109872737 109872737 single base substitution C T intron_variant BRCA-EU 2 109874013 109874013 single base substitution G A intron_variant BRCA-EU 2 109874091 109874091 single base substitution G C intron_variant BRCA-EU 2 109874607 109874607 single base substitution C A intron_variant BRCA-EU 2 109874631 109874631 single base substitution C T intron_variant BRCA-EU 2 109876590 109876590 single base substitution G T intron_variant BRCA-EU 2 109878762 109878762 single base substitution C G intron_variant BRCA-EU 2 109880352 109880352 single base substitution G C intron_variant BRCA-EU 2 109880622 109880622 single base substitution C A intron_variant BRCA-EU 2 109880997 109880997 single base substitution G A intron_variant BRCA-EU 2 109881702 109881702 single base substitution C T intron_variant BRCA-EU 2 109882153 109882153 single base substitution G A intron_variant BRCA-EU 2 109882320 109882320 single base substitution C T intron_variant BRCA-EU 2 109883021 109883021 single base substitution G A intron_variant BRCA-EU 2 109883485 109883486 deletion of <=200bp AG - intron_variant BRCA-EU 2 109886170 109886170 single base substitution G T intron_variant BRCA-EU 2 109886562 109886562 single base substitution C G intron_variant BRCA-EU 2 109886590 109886590 single base substitution T A intron_variant BRCA-EU 2 109886760 109886760 single base substitution G A intron_variant BRCA-EU 2 109888151 109888151 single base substitution G A intron_variant BRCA-EU 2 109889247 109889247 single base substitution C A intron_variant BRCA-EU 2 109891343 109891343 insertion of <=200bp - TGA intron_variant BRCA-EU 2 109892194 109892194 single base substitution C A intron_variant BRCA-EU 2 109893243 109893243 insertion of <=200bp - AT intron_variant BRCA-EU 2 109896603 109896603 single base substitution C G intron_variant BRCA-EU 2 109897162 109897162 single base substitution G T intron_variant BRCA-EU 2 109897436 109897436 single base substitution C T intron_variant BRCA-EU 2 109897664 109897664 single base substitution G C intron_variant BRCA-EU 2 109899235 109899235 single base substitution C T intron_variant BRCA-EU 2 109901026 109901026 single base substitution G A intron_variant BRCA-EU 2 109902557 109902557 single base substitution A T intron_variant BRCA-EU 2 109902584 109902584 single base substitution G A intron_variant BRCA-EU 2 109903001 109903001 single base substitution G T intron_variant BRCA-EU 2 109903158 109903158 single base substitution G C intron_variant BRCA-EU 2 109903902 109903902 single base substitution C G intron_variant BRCA-EU 2 109904142 109904142 single base substitution C A intron_variant BRCA-EU 2 109904436 109904436 single base substitution A C intron_variant BRCA-EU 2 109905127 109905127 deletion of <=200bp T - intron_variant BRCA-EU 2 109908260 109908260 single base substitution G C intron_variant BRCA-EU 2 109908262 109908262 single base substitution C G intron_variant BRCA-EU 2 109909776 109909776 single base substitution T C intron_variant BRCA-EU 2 109910143 109910143 single base substitution G T intron_variant BRCA-EU 2 109911139 109911139 single base substitution G T intron_variant BRCA-EU 2 109913377 109913377 single base substitution C A intron_variant BRCA-EU 2 109913602 109913602 single base substitution G A intron_variant BRCA-EU 2 109914388 109914388 deletion of <=200bp C - intron_variant BRCA-EU 2 109914565 109914565 single base substitution G A intron_variant BRCA-EU 2 109917374 109917374 single base substitution G T intron_variant BRCA-EU 2 109918332 109918332 single base substitution G A intron_variant BRCA-EU 2 109918480 109918480 single base substitution C T intron_variant BRCA-EU 2 109919070 109919070 single base substitution G A intron_variant BRCA-EU 2 109919315 109919315 single base substitution C G intron_variant BRCA-EU 2 109919496 109919496 single base substitution C G intron_variant BRCA-EU 2 109920042 109920042 single base substitution C T intron_variant BRCA-EU 2 109920577 109920577 single base substitution C T intron_variant BRCA-EU 2 109920897 109920897 deletion of <=200bp T - intron_variant BRCA-EU 2 109920923 109920923 single base substitution C T intron_variant BRCA-EU 2 109921146 109921146 single base substitution G A intron_variant BRCA-EU 2 109923017 109923017 single base substitution G T intron_variant BRCA-EU 2 109923643 109923643 single base substitution C T intron_variant BRCA-EU 2 109925318 109925318 single base substitution C G intron_variant BRCA-EU 2 109926182 109926182 single base substitution G T intron_variant BRCA-EU 2 109926376 109926376 single base substitution T A intron_variant BRCA-EU 2 109926378 109926378 single base substitution G T intron_variant BRCA-EU 2 109929019 109929019 single base substitution A C intron_variant BRCA-EU 2 109931024 109931024 single base substitution G C intron_variant BRCA-EU 2 109931328 109931328 single base substitution T C intron_variant BRCA-EU 2 109931714 109931714 single base substitution G A intron_variant BRCA-EU 2 109932097 109932097 single base substitution G A intron_variant BRCA-EU 2 109934345 109934345 single base substitution A T intron_variant BRCA-EU 2 109934781 109934781 single base substitution G A intron_variant BRCA-EU 2 109936310 109936310 single base substitution G A intron_variant BRCA-EU 2 109936659 109936659 single base substitution G A intron_variant BRCA-EU 2 109937159 109937159 single base substitution G A intron_variant BRCA-EU 2 109937172 109937172 single base substitution C T intron_variant BRCA-EU 2 109937652 109937652 single base substitution G T intron_variant BRCA-EU 2 109938547 109938547 single base substitution G A intron_variant BRCA-EU 2 109938582 109938582 single base substitution G C intron_variant BRCA-EU 2 109938770 109938770 single base substitution T C intron_variant BRCA-EU 2 109938825 109938825 single base substitution C G intron_variant BRCA-EU 2 109940067 109940067 single base substitution G A intron_variant BRCA-EU 2 109940141 109940141 single base substitution A G intron_variant BRCA-EU 2 109941168 109941168 single base substitution A T intron_variant BRCA-EU 2 109941359 109941359 single base substitution G A intron_variant BRCA-EU 2 109942135 109942135 single base substitution A G intron_variant BRCA-EU 2 109942151 109942151 single base substitution C T intron_variant BRCA-EU 2 109942839 109942839 single base substitution A T intron_variant BRCA-EU 2 109944481 109944481 deletion of <=200bp T - intron_variant BRCA-EU 2 109950780 109950780 single base substitution C T intron_variant BRCA-EU 2 109950846 109950846 single base substitution A T intron_variant BRCA-EU 2 109951510 109951510 single base substitution G A intron_variant BRCA-EU 2 109952432 109952432 single base substitution C A intron_variant BRCA-EU 2 109954009 109954009 single base substitution C T intron_variant BRCA-EU 2 109956243 109956243 single base substitution C A intron_variant BRCA-EU 2 109956908 109956908 single base substitution G A intron_variant BRCA-EU 2 109961728 109961728 single base substitution G C intron_variant BRCA-EU 2 109962996 109962996 single base substitution T A intron_variant BRCA-EU 2 109963117 109963117 single base substitution T C intron_variant BRCA-EU 2 109963318 109963318 single base substitution G C intron_variant BRCA-EU 2 109965647 109965647 single base substitution T G intron_variant BRCA-EU 2 109968871 109968871 single base substitution G A intron_variant BRCA-EU 2 109970228 109970228 single base substitution C T intron_variant BRCA-EU 2 109970405 109970405 single base substitution G A intron_variant BRCA-EU 2 109970645 109970645 single base substitution G A intron_variant BRCA-EU 2 109970825 109970825 single base substitution C G intron_variant BRCA-EU 2 109971556 109971556 single base substitution G T intron_variant BRCA-EU 2 109973088 109973088 single base substitution G C intron_variant BRCA-EU 2 109974257 109974257 single base substitution G C intron_variant BRCA-EU 2 109974816 109974816 single base substitution C G intron_variant BRCA-EU 2 109977180 109977180 single base substitution C G intron_variant BRCA-EU 2 109977706 109977706 single base substitution C T intron_variant BRCA-EU 2 109977707 109977707 single base substitution G A intron_variant BRCA-EU 2 109980925 109980925 single base substitution A G intron_variant BRCA-EU 2 109982477 109982477 single base substitution C T intron_variant BRCA-EU 2 109983204 109983204 single base substitution G C intron_variant BRCA-EU 2 109983204 109983204 single base substitution G T intron_variant BRCA-EU 2 109983210 109983210 single base substitution G A intron_variant BRCA-EU 2 109983230 109983230 single base substitution G A intron_variant BRCA-EU 2 109983382 109983382 single base substitution C T intron_variant BRCA-EU 2 109983672 109983672 single base substitution G A intron_variant BRCA-EU 2 109983716 109983716 single base substitution G A intron_variant BRCA-EU 2 109984881 109984881 single base substitution G C intron_variant BRCA-EU 2 109985415 109985415 single base substitution A G intron_variant BRCA-EU 2 109985891 109985891 single base substitution G T intron_variant BRCA-EU 2 109986192 109986192 single base substitution C T intron_variant BRCA-EU 2 109986471 109986471 single base substitution A G intron_variant BRCA-EU 2 109987353 109987353 single base substitution A T intron_variant BRCA-EU 2 109988796 109988796 single base substitution T G intron_variant BRCA-EU 2 109991026 109991026 single base substitution G A intron_variant BRCA-EU 2 109991056 109991056 single base substitution A C intron_variant BRCA-EU 2 109991836 109991836 single base substitution C A intron_variant BRCA-EU 2 109992827 109992827 single base substitution G T intron_variant BRCA-EU 2 109993191 109993191 single base substitution C T intron_variant BRCA-EU 2 109995050 109995050 single base substitution C T intron_variant BRCA-EU 2 109997995 109997996 deletion of <=200bp CT - intron_variant BRCA-EU 2 109998027 109998027 single base substitution G A intron_variant BRCA-EU 2 110000361 110000361 single base substitution G A intron_variant BRCA-EU 2 110000496 110000496 single base substitution G C intron_variant BRCA-EU 2 110000864 110000864 single base substitution C T intron_variant BRCA-EU 2 110001088 110001088 single base substitution C T intron_variant BRCA-EU 2 110001122 110001122 single base substitution C T intron_variant BRCA-EU 2 110001273 110001273 single base substitution G C intron_variant BRCA-EU 2 110002886 110002886 insertion of <=200bp - C intron_variant BRCA-EU 2 110005221 110005221 single base substitution G A intron_variant BRCA-EU 2 110005869 110005869 single base substitution C T intron_variant BRCA-EU 2 110005999 110005999 single base substitution C T intron_variant BRCA-EU 2 110007666 110007666 single base substitution G T intron_variant BRCA-EU 2 110008992 110008992 single base substitution G C intron_variant BRCA-EU 2 110010404 110010404 single base substitution G C intron_variant BRCA-EU 2 110010451 110010451 single base substitution C T intron_variant BRCA-EU 2 110010786 110010786 single base substitution G A intron_variant BRCA-EU 2 110011162 110011162 single base substitution C T intron_variant BRCA-EU 2 110011633 110011633 single base substitution G A intron_variant BRCA-EU 2 110012516 110012516 single base substitution C T intron_variant BRCA-EU 2 110012614 110012614 single base substitution G T intron_variant BRCA-EU 2 110013420 110013420 single base substitution G T intron_variant BRCA-EU 2 110016297 110016297 single base substitution G T intron_variant BRCA-EU 2 110019676 110019676 single base substitution C T intron_variant BRCA-EU 2 110020601 110020601 single base substitution G A intron_variant BRCA-EU 2 110020704 110020704 single base substitution G A intron_variant BRCA-EU 2 110022434 110022434 single base substitution G A intron_variant BRCA-EU 2 110022449 110022449 single base substitution C T intron_variant BRCA-EU 2 110024386 110024386 single base substitution G T intron_variant BRCA-EU 2 110024445 110024445 single base substitution C T intron_variant BRCA-EU 2 110024879 110024879 single base substitution C T intron_variant BRCA-EU 2 110025079 110025079 single base substitution C T intron_variant BRCA-EU 2 110025089 110025089 single base substitution A T intron_variant BRCA-EU 2 110026991 110026991 single base substitution A T intron_variant BRCA-EU 2 110027521 110027521 single base substitution C A intron_variant BRCA-EU 2 110027671 110027671 single base substitution G A intron_variant BRCA-EU 2 110029165 110029165 single base substitution A G intron_variant BRCA-EU 2 110029833 110029833 single base substitution G A intron_variant BRCA-EU 2 110030636 110030636 single base substitution A T intron_variant BRCA-EU 2 110031362 110031362 single base substitution G C intron_variant BRCA-EU 2 110032203 110032203 single base substitution G C intron_variant BRCA-EU 2 110033813 110033813 single base substitution C T intron_variant BRCA-EU 2 110034493 110034493 single base substitution C G intron_variant BRCA-EU 2 110035514 110035514 single base substitution C A intron_variant BRCA-EU 2 110035651 110035651 single base substitution G T intron_variant BRCA-EU 2 110036721 110036721 single base substitution T C intron_variant BRCA-EU 2 110036962 110036962 single base substitution C T intron_variant BRCA-EU 2 110037117 110037117 single base substitution G A intron_variant BRCA-EU 2 110037993 110037993 single base substitution T A intron_variant BRCA-EU 2 110042169 110042169 single base substitution T A intron_variant BRCA-EU 2 110042611 110042611 single base substitution C T intron_variant BRCA-EU 2 110043623 110043623 single base substitution C T intron_variant BRCA-EU 2 110043795 110043795 single base substitution A G intron_variant BRCA-EU 2 110044512 110044512 single base substitution C T intron_variant BRCA-EU 2 110045772 110045772 single base substitution A G intron_variant BRCA-EU 2 110046374 110046374 single base substitution C A intron_variant BRCA-EU 2 110046730 110046730 single base substitution G A intron_variant BRCA-EU 2 110046845 110046845 single base substitution A G intron_variant BRCA-EU 2 110048413 110048413 single base substitution C T intron_variant BRCA-EU 2 110049461 110049461 single base substitution G T intron_variant BRCA-EU 2 110049463 110049463 single base substitution G T intron_variant BRCA-EU 2 110050892 110050892 single base substitution G A intron_variant BRCA-EU 2 110052624 110052624 single base substitution T A intron_variant BRCA-EU 2 110053548 110053548 single base substitution C G missense_variant L592V 1774C>G BRCA-EU 2 110053996 110053996 single base substitution G A intron_variant BRCA-EU 2 110054907 110054907 single base substitution T G intron_variant BRCA-EU 2 110056279 110056279 single base substitution G A intron_variant BRCA-EU 2 110058013 110058013 insertion of <=200bp - A intron_variant BRCA-EU 2 110058674 110058674 single base substitution G A intron_variant BRCA-EU 2 110059004 110059004 single base substitution A T intron_variant BRCA-EU 2 110059407 110059407 single base substitution G A intron_variant BRCA-EU 2 110060357 110060357 single base substitution G C intron_variant BRCA-EU 2 110061941 110061941 single base substitution G C intron_variant BRCA-EU 2 110062374 110062374 single base substitution G C intron_variant BRCA-EU 2 110062437 110062437 single base substitution G C intron_variant BRCA-EU 2 110064505 110064505 single base substitution G A intron_variant BRCA-EU 2 110065101 110065101 single base substitution G A intron_variant BRCA-EU 2 110065708 110065708 single base substitution G T synonymous_variant L637L 1911G>T BRCA-EU 2 110065887 110065887 single base substitution T C missense_variant L697P 2090T>C BRCA-EU 2 110065889 110065889 single base substitution T G missense_variant S698A 2092T>G BRCA-EU 2 110066568 110066568 single base substitution G A downstream_gene_variant BRCA-EU 2 110066568 110066568 single base substitution G A intron_variant BRCA-EU 2 110067179 110067179 single base substitution C T downstream_gene_variant BRCA-EU 2 110067179 110067179 single base substitution C T intron_variant BRCA-EU 2 110067181 110067181 single base substitution C T downstream_gene_variant BRCA-EU 2 110067181 110067181 single base substitution C T intron_variant BRCA-EU 2 110067900 110067900 single base substitution A C downstream_gene_variant BRCA-EU 2 110067900 110067900 single base substitution A C intron_variant BRCA-EU 2 110069421 110069421 single base substitution G A downstream_gene_variant BRCA-EU 2 110069421 110069421 single base substitution G A intron_variant BRCA-EU 2 110069422 110069422 single base substitution G A downstream_gene_variant BRCA-EU 2 110069422 110069422 single base substitution G A intron_variant BRCA-EU 2 110070068 110070068 single base substitution C A downstream_gene_variant BRCA-EU 2 110070068 110070068 single base substitution C A intron_variant BRCA-EU 2 110070232 110070232 single base substitution T A downstream_gene_variant BRCA-EU 2 110070232 110070232 single base substitution T A intron_variant BRCA-EU 2 110070982 110070982 single base substitution C T intron_variant BRCA-EU 2 110071110 110071110 single base substitution A T intron_variant BRCA-EU 2 110071438 110071438 single base substitution A G intron_variant BRCA-EU 2 110071832 110071832 single base substitution G C intron_variant BRCA-EU 2 110073562 110073562 single base substitution G A intron_variant BRCA-EU 2 110073652 110073652 single base substitution A G intron_variant BRCA-EU 2 110073826 110073826 single base substitution A G intron_variant BRCA-EU 2 110074857 110074857 single base substitution T A intron_variant BRCA-EU 2 110075228 110075228 single base substitution G A intron_variant BRCA-EU 2 110075537 110075537 single base substitution G A intron_variant BRCA-EU 2 110077842 110077842 single base substitution C T intron_variant BRCA-EU 2 110078418 110078418 single base substitution C T intron_variant BRCA-EU 2 110078669 110078669 single base substitution G A intron_variant BRCA-EU 2 110080107 110080107 single base substitution C A intron_variant BRCA-EU 2 110082301 110082301 single base substitution G T intron_variant BRCA-EU 2 110084057 110084057 single base substitution G C intron_variant BRCA-EU 2 110084071 110084071 single base substitution T A intron_variant BRCA-EU 2 110084168 110084168 single base substitution A G intron_variant BRCA-EU 2 110085449 110085449 single base substitution C G intron_variant BRCA-EU 2 110086003 110086003 single base substitution A T intron_variant BRCA-EU 2 110086989 110086989 single base substitution A T intron_variant BRCA-EU 2 110088166 110088166 single base substitution C A intron_variant BRCA-EU 2 110090013 110090013 single base substitution C T intron_variant BRCA-EU 2 110091418 110091418 deletion of <=200bp G - intron_variant BRCA-EU 2 110092064 110092064 single base substitution A G intron_variant BRCA-EU 2 110092404 110092404 single base substitution C G intron_variant BRCA-EU 2 110092616 110092616 single base substitution G T intron_variant BRCA-EU 2 110093127 110093127 single base substitution G A intron_variant BRCA-EU 2 110095385 110095385 single base substitution A T intron_variant BRCA-EU 2 110096889 110096889 single base substitution G C intron_variant BRCA-EU 2 110097672 110097672 single base substitution G A intron_variant BRCA-EU 2 110098573 110098573 single base substitution C T intron_variant BRCA-EU 2 110100327 110100327 single base substitution C G intron_variant BRCA-EU 2 110100707 110100707 single base substitution G C intron_variant BRCA-EU 2 110102635 110102635 single base substitution T A intron_variant BRCA-EU 2 110102739 110102739 single base substitution T C intron_variant BRCA-EU 2 110103042 110103042 single base substitution A G intron_variant BRCA-EU 2 110104392 110104392 single base substitution G C intron_variant BRCA-EU 2 110105114 110105114 single base substitution G A intron_variant BRCA-EU 2 110105176 110105176 single base substitution C G intron_variant BRCA-EU 2 110106477 110106477 single base substitution A T intron_variant BRCA-EU 2 110106571 110106571 single base substitution A G intron_variant BRCA-EU 2 110106766 110106766 single base substitution G C intron_variant BRCA-EU 2 110107199 110107199 single base substitution G A missense_variant E763K 2287G>A BRCA-EU 2 110107537 110107537 single base substitution G A intron_variant BRCA-EU 2 110251560 110251560 single base substitution C G intron_variant BRCA-EU 2 110251749 110251749 single base substitution T A intron_variant BRCA-EU 2 110252889 110252889 single base substitution G T intron_variant BRCA-EU 2 110254651 110254651 single base substitution G T intron_variant BRCA-EU 2 110254651 110254651 single base substitution G T upstream_gene_variant BRCA-EU 2 110256230 110256230 single base substitution A G intron_variant BRCA-EU 2 110256230 110256230 single base substitution A G upstream_gene_variant BRCA-EU 2 110257771 110257771 single base substitution G C intron_variant BRCA-EU 2 110257771 110257771 single base substitution G C upstream_gene_variant BRCA-EU 2 110257785 110257785 deletion of <=200bp G - intron_variant BRCA-EU 2 110257785 110257785 deletion of <=200bp G - upstream_gene_variant BRCA-EU 2 110257838 110257838 single base substitution G T intron_variant BRCA-EU 2 110257838 110257838 single base substitution G T upstream_gene_variant BRCA-EU 2 110259978 110259978 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 110259978 110259978 single base substitution C G downstream_gene_variant BRCA-EU 2 110261387 110261387 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 110261387 110261387 single base substitution C T downstream_gene_variant BRCA-EU 2 110261626 110261626 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 110261626 110261626 single base substitution G A downstream_gene_variant BRCA-EU 2 110261712 110261712 single base substitution A G 3_prime_UTR_variant BRCA-EU 2 110261712 110261712 single base substitution A G downstream_gene_variant BRCA-EU 2 110263034 110263034 single base substitution G C downstream_gene_variant BRCA-EU 2 110263103 110263103 insertion of <=200bp - A downstream_gene_variant BRCA-EU 2 110263589 110263589 single base substitution T C downstream_gene_variant BRCA-EU 2 110267186 110267186 single base substitution G T downstream_gene_variant BRCA-FR 2 109741716 109741716 single base substitution G C upstream_gene_variant BRCA-FR 2 109748277 109748277 single base substitution G A intron_variant BRCA-FR 2 109754616 109754616 single base substitution C T intron_variant BRCA-FR 2 109759565 109759565 single base substitution A T intron_variant BRCA-FR 2 109762806 109762806 single base substitution G T intron_variant BRCA-FR 2 109778790 109778790 single base substitution G A intron_variant BRCA-FR 2 109780922 109780922 single base substitution G A intron_variant BRCA-FR 2 109784470 109784470 single base substitution A G intron_variant BRCA-FR 2 109784631 109784631 single base substitution G C intron_variant BRCA-FR 2 109785577 109785577 single base substitution G C intron_variant BRCA-FR 2 109790139 109790139 single base substitution A G intron_variant BRCA-FR 2 109795600 109795600 single base substitution G A intron_variant BRCA-FR 2 109798196 109798196 single base substitution T G intron_variant BRCA-FR 2 109799487 109799487 single base substitution G T intron_variant BRCA-FR 2 109807752 109807752 single base substitution T C intron_variant BRCA-FR 2 109818827 109818827 single base substitution T A intron_variant BRCA-FR 2 109821139 109821139 single base substitution G A intron_variant BRCA-FR 2 109831078 109831078 single base substitution G C intron_variant BRCA-FR 2 109833918 109833918 single base substitution G A intron_variant BRCA-FR 2 109848226 109848226 single base substitution G A intron_variant BRCA-FR 2 109850512 109850512 single base substitution G A intron_variant BRCA-FR 2 109853622 109853622 single base substitution G T intron_variant BRCA-FR 2 109886562 109886562 single base substitution C G intron_variant BRCA-FR 2 109907557 109907557 single base substitution G C intron_variant BRCA-FR 2 109913602 109913602 single base substitution G A intron_variant BRCA-FR 2 109915464 109915464 single base substitution T A intron_variant BRCA-FR 2 109917374 109917374 single base substitution G T intron_variant BRCA-FR 2 109923017 109923017 single base substitution G T intron_variant BRCA-FR 2 109926182 109926182 single base substitution G T intron_variant BRCA-FR 2 109928294 109928294 single base substitution C T intron_variant BRCA-FR 2 109928610 109928610 single base substitution C G intron_variant BRCA-FR 2 109937172 109937172 single base substitution C T intron_variant BRCA-FR 2 109941359 109941359 single base substitution G A intron_variant BRCA-FR 2 109961728 109961728 single base substitution G C intron_variant BRCA-FR 2 109968871 109968871 single base substitution G A intron_variant BRCA-FR 2 109970645 109970645 single base substitution G A intron_variant BRCA-FR 2 109977706 109977706 single base substitution C T intron_variant BRCA-FR 2 109991056 109991056 single base substitution A C intron_variant BRCA-FR 2 109991808 109991808 single base substitution C T intron_variant BRCA-FR 2 109993191 109993191 single base substitution C T intron_variant BRCA-FR 2 110013420 110013420 single base substitution G T intron_variant BRCA-FR 2 110020601 110020601 single base substitution G A intron_variant BRCA-FR 2 110022434 110022434 single base substitution G A intron_variant BRCA-FR 2 110027521 110027521 single base substitution C A intron_variant BRCA-FR 2 110036244 110036244 single base substitution G A intron_variant BRCA-FR 2 110043623 110043623 single base substitution C T intron_variant BRCA-FR 2 110046374 110046374 single base substitution C A intron_variant BRCA-FR 2 110056279 110056279 single base substitution G A intron_variant BRCA-FR 2 110062374 110062374 single base substitution G C intron_variant BRCA-FR 2 110062437 110062437 single base substitution G C intron_variant BRCA-FR 2 110068411 110068411 single base substitution G C downstream_gene_variant BRCA-FR 2 110068411 110068411 single base substitution G C intron_variant BRCA-FR 2 110068825 110068825 single base substitution G T downstream_gene_variant BRCA-FR 2 110068825 110068825 single base substitution G T intron_variant BRCA-FR 2 110076122 110076122 single base substitution G A intron_variant BRCA-FR 2 110082301 110082301 single base substitution G T intron_variant BRCA-FR 2 110084057 110084057 single base substitution G C intron_variant BRCA-FR 2 110092404 110092404 single base substitution C G intron_variant BRCA-FR 2 110105973 110105973 single base substitution A C intron_variant BRCA-FR 2 110106766 110106766 single base substitution G C intron_variant BRCA-FR 2 110107199 110107199 single base substitution G A missense_variant E763K 2287G>A BRCA-FR 2 110107537 110107537 single base substitution G A intron_variant BRCA-FR 2 110252986 110252986 single base substitution G A intron_variant BRCA-FR 2 110263589 110263589 single base substitution T C downstream_gene_variant BRCA-UK 2 109747527 109747527 single base substitution C T intron_variant BRCA-UK 2 109750210 109750210 single base substitution C G intron_variant BRCA-UK 2 109751007 109751007 single base substitution G A intron_variant BRCA-UK 2 109781002 109781002 single base substitution T G intron_variant BRCA-UK 2 109790981 109790981 single base substitution G A intron_variant BRCA-UK 2 109806722 109806722 single base substitution C T intron_variant BRCA-UK 2 109845301 109845301 single base substitution G T intron_variant BRCA-UK 2 109865269 109865269 single base substitution C T intron_variant BRCA-UK 2 109874091 109874091 single base substitution G C intron_variant BRCA-UK 2 109896723 109896723 single base substitution G T intron_variant BRCA-UK 2 109902584 109902584 single base substitution G A intron_variant BRCA-UK 2 109914565 109914565 single base substitution G A intron_variant BRCA-UK 2 109934345 109934345 single base substitution A T intron_variant BRCA-UK 2 109983103 109983103 single base substitution G A intron_variant BRCA-UK 2 109983382 109983382 single base substitution C T intron_variant BRCA-UK 2 109983383 109983383 single base substitution G A intron_variant BRCA-UK 2 109983728 109983728 single base substitution G A intron_variant BRCA-UK 2 109985368 109985368 single base substitution G C intron_variant BRCA-UK 2 110038322 110038322 single base substitution T G intron_variant BRCA-UK 2 110057005 110057005 single base substitution G A intron_variant BRCA-UK 2 110092065 110092065 single base substitution G C intron_variant BRCA-UK 2 110092087 110092087 single base substitution G C intron_variant BRCA-UK 2 110092849 110092849 single base substitution G C intron_variant BRCA-UK 2 110093080 110093080 single base substitution G A intron_variant BRCA-UK 2 110102739 110102739 single base substitution T C intron_variant BRCA-UK 2 110105176 110105176 single base substitution C G intron_variant BRCA-UK 2 110263109 110263109 insertion of <=200bp - A downstream_gene_variant BRCA-US 2 110107366 110107366 single base substitution C A synonymous_variant P818P 2454C>A BTCA-JP 2 109930023 109930023 single base substitution T C intron_variant BTCA-JP 2 109964268 109964268 single base substitution G A missense_variant G238S 712G>A BTCA-JP 2 109964291 109964291 single base substitution C G synonymous_variant A245A 735C>G BTCA-JP 2 109964372 109964372 single base substitution A G synonymous_variant K272K 816A>G BTCA-JP 2 109964449 109964449 single base substitution C A intron_variant BTCA-JP 2 110015058 110015058 single base substitution G A missense_variant A320T 958G>A BTCA-JP 2 110015336 110015336 single base substitution C T synonymous_variant S412S 1236C>T BTCA-JP 2 110053328 110053328 single base substitution C T intron_variant BTCA-JP 2 110053500 110053500 single base substitution C A missense_variant Q576K 1726C>A BTCA-JP 2 110053558 110053558 single base substitution C T missense_variant S595L 1784C>T BTCA-JP 2 110065784 110065784 single base substitution C T missense_variant R663W 1987C>T BTCA-JP 2 110065868 110065868 deletion of <=200bp G - frameshift_variant G691 BTCA-JP 2 110107306 110107306 single base substitution G T missense_variant L798F 2394G>T CLLE-ES 2 109742920 109742920 single base substitution T A upstream_gene_variant CLLE-ES 2 109782132 109782132 single base substitution T G intron_variant CLLE-ES 2 109787774 109787774 single base substitution C G intron_variant CLLE-ES 2 109804519 109804519 single base substitution C T intron_variant CLLE-ES 2 109807062 109807062 single base substitution T C intron_variant CLLE-ES 2 109821260 109821260 single base substitution C T intron_variant CLLE-ES 2 109826962 109826962 single base substitution A G intron_variant CLLE-ES 2 109827902 109827902 single base substitution A T intron_variant CLLE-ES 2 109844928 109844928 single base substitution G A intron_variant CLLE-ES 2 109846057 109846057 single base substitution A G intron_variant CLLE-ES 2 109855094 109855094 single base substitution T C intron_variant CLLE-ES 2 109871405 109871405 single base substitution A T intron_variant CLLE-ES 2 109879645 109879645 single base substitution C T intron_variant CLLE-ES 2 109892140 109892140 single base substitution G T intron_variant CLLE-ES 2 109900934 109900934 single base substitution C A intron_variant CLLE-ES 2 109902252 109902252 single base substitution G C intron_variant CLLE-ES 2 109933990 109933990 single base substitution G A intron_variant CLLE-ES 2 109934412 109934412 single base substitution C T intron_variant CLLE-ES 2 109940094 109940094 single base substitution G C intron_variant CLLE-ES 2 109942085 109942085 single base substitution C T intron_variant CLLE-ES 2 109943582 109943582 single base substitution A T intron_variant CLLE-ES 2 109971038 109971038 single base substitution G T intron_variant CLLE-ES 2 109976520 109976520 single base substitution A C intron_variant CLLE-ES 2 110003296 110003296 single base substitution C A intron_variant CLLE-ES 2 110010333 110010333 single base substitution T A intron_variant CLLE-ES 2 110014785 110014785 single base substitution G A intron_variant CLLE-ES 2 110016414 110016414 single base substitution G A intron_variant CLLE-ES 2 110022106 110022106 single base substitution C T intron_variant CLLE-ES 2 110036137 110036137 single base substitution C A intron_variant CLLE-ES 2 110089233 110089233 single base substitution T G intron_variant CLLE-ES 2 110105514 110105514 single base substitution T C intron_variant CLLE-ES 2 110258126 110258126 single base substitution G C intron_variant CLLE-ES 2 110258126 110258126 single base substitution G C upstream_gene_variant CLLE-ES 2 110267166 110267166 single base substitution C A downstream_gene_variant COAD-US 2 109746189 109746189 single base substitution G A missense_variant D65N 193G>A COAD-US 2 109746196 109746196 single base substitution C T missense_variant T67M 200C>T COAD-US 2 109746233 109746233 single base substitution C T synonymous_variant R79R 237C>T COAD-US 2 109964230 109964230 single base substitution G A missense_variant R225H 674G>A COAD-US 2 109964325 109964325 single base substitution G A missense_variant A257T 769G>A COAD-US 2 109964358 109964358 single base substitution G A missense_variant E268K 802G>A COAD-US 2 110015235 110015235 single base substitution C T missense_variant R379C 1135C>T COAD-US 2 110015264 110015264 single base substitution G A synonymous_variant T388T 1164G>A COAD-US 2 110049036 110049036 single base substitution G A missense_variant E495K 1483G>A COAD-US 2 110065682 110065682 single base substitution C T missense_variant R629C 1885C>T COAD-US 2 110065801 110065801 single base substitution C T synonymous_variant L668L 2004C>T COAD-US 2 110065862 110065862 single base substitution G C missense_variant A689P 2065G>C COAD-US 2 110065927 110065927 single base substitution C A missense_variant D710E 2130C>A COCA-CN 2 109763755 109763755 single base substitution C G intron_variant COCA-CN 2 109930055 109930055 single base substitution T A intron_variant COCA-CN 2 109964357 109964357 single base substitution C T synonymous_variant F267F 801C>T COCA-CN 2 109988013 109988013 single base substitution T C intron_variant COCA-CN 2 110049067 110049067 single base substitution C T missense_variant A505V 1514C>T COCA-CN 2 110049235 110049235 single base substitution G A intron_variant COCA-CN 2 110053442 110053442 single base substitution T C synonymous_variant S556S 1668T>C COCA-CN 2 110259173 110259173 single base substitution C T synonymous_variant D31D 93C>T COCA-CN 2 110259173 110259173 single base substitution C T synonymous_variant D858D 2574C>T EOPC-DE 2 109820829 109820829 single base substitution T C intron_variant EOPC-DE 2 109827209 109827209 single base substitution T C intron_variant EOPC-DE 2 109989836 109989836 single base substitution A G intron_variant EOPC-DE 2 110016852 110016852 single base substitution G A intron_variant EOPC-DE 2 110016881 110016881 single base substitution T C intron_variant EOPC-DE 2 110068223 110068223 single base substitution C T downstream_gene_variant EOPC-DE 2 110068223 110068223 single base substitution C T intron_variant ESAD-UK 2 109740919 109740919 single base substitution C T upstream_gene_variant ESAD-UK 2 109741834 109741834 single base substitution C T upstream_gene_variant ESAD-UK 2 109746532 109746532 single base substitution G A missense_variant R179Q 536G>A ESAD-UK 2 109747468 109747468 deletion of <=200bp A - intron_variant ESAD-UK 2 109748618 109748618 single base substitution G A intron_variant ESAD-UK 2 109750026 109750026 single base substitution C G intron_variant ESAD-UK 2 109750583 109750583 single base substitution C T intron_variant ESAD-UK 2 109752174 109752177 deletion of <=200bp TCAG - intron_variant ESAD-UK 2 109753537 109753537 deletion of <=200bp T - intron_variant ESAD-UK 2 109759734 109759734 single base substitution A C intron_variant ESAD-UK 2 109760609 109760609 single base substitution C A intron_variant ESAD-UK 2 109761149 109761149 single base substitution T C intron_variant ESAD-UK 2 109766761 109766761 single base substitution G A intron_variant ESAD-UK 2 109768718 109768718 single base substitution G A intron_variant ESAD-UK 2 109770856 109770856 single base substitution C T intron_variant ESAD-UK 2 109771151 109771151 single base substitution G A intron_variant ESAD-UK 2 109771958 109771958 single base substitution G A intron_variant ESAD-UK 2 109772397 109772397 single base substitution G A intron_variant ESAD-UK 2 109772858 109772858 single base substitution T G intron_variant ESAD-UK 2 109773249 109773249 single base substitution G C intron_variant ESAD-UK 2 109775248 109775248 single base substitution C A intron_variant ESAD-UK 2 109775681 109775681 single base substitution C T intron_variant ESAD-UK 2 109776742 109776742 single base substitution C T intron_variant ESAD-UK 2 109778164 109778164 single base substitution G A intron_variant ESAD-UK 2 109778240 109778240 single base substitution A C intron_variant ESAD-UK 2 109778368 109778368 single base substitution T C intron_variant ESAD-UK 2 109778426 109778426 single base substitution C T intron_variant ESAD-UK 2 109778875 109778875 insertion of <=200bp - T intron_variant ESAD-UK 2 109779012 109779012 single base substitution T A intron_variant ESAD-UK 2 109780557 109780557 single base substitution C T intron_variant ESAD-UK 2 109780674 109780674 single base substitution G T intron_variant ESAD-UK 2 109780797 109780797 single base substitution C G intron_variant ESAD-UK 2 109781943 109781943 single base substitution G A intron_variant ESAD-UK 2 109782425 109782425 deletion of <=200bp T - intron_variant ESAD-UK 2 109784025 109784025 single base substitution T C intron_variant ESAD-UK 2 109786287 109786287 single base substitution A T intron_variant ESAD-UK 2 109789177 109789177 single base substitution T G intron_variant ESAD-UK 2 109792539 109792539 single base substitution T A intron_variant ESAD-UK 2 109792955 109792955 single base substitution A C intron_variant ESAD-UK 2 109797241 109797241 single base substitution G A intron_variant ESAD-UK 2 109799490 109799490 single base substitution G A intron_variant ESAD-UK 2 109799598 109799598 single base substitution A G intron_variant ESAD-UK 2 109799836 109799836 single base substitution C A intron_variant ESAD-UK 2 109801034 109801034 single base substitution T C intron_variant ESAD-UK 2 109802607 109802607 single base substitution A T intron_variant ESAD-UK 2 109802764 109802764 single base substitution G A intron_variant ESAD-UK 2 109803096 109803096 single base substitution G A intron_variant ESAD-UK 2 109803824 109803824 insertion of <=200bp - TTG intron_variant ESAD-UK 2 109804053 109804053 single base substitution G A intron_variant ESAD-UK 2 109806419 109806419 insertion of <=200bp - C intron_variant ESAD-UK 2 109806722 109806722 single base substitution C T intron_variant ESAD-UK 2 109806857 109806857 single base substitution T G intron_variant ESAD-UK 2 109806891 109806891 single base substitution A T intron_variant ESAD-UK 2 109808329 109808329 single base substitution T C intron_variant ESAD-UK 2 109808537 109808537 single base substitution C T intron_variant ESAD-UK 2 109808858 109808858 single base substitution T A intron_variant ESAD-UK 2 109809553 109809553 single base substitution T G intron_variant ESAD-UK 2 109810624 109810624 single base substitution G A intron_variant ESAD-UK 2 109811876 109811876 single base substitution G A intron_variant ESAD-UK 2 109812319 109812319 single base substitution G A intron_variant ESAD-UK 2 109814258 109814258 deletion of <=200bp A - intron_variant ESAD-UK 2 109814415 109814415 single base substitution A C intron_variant ESAD-UK 2 109815165 109815165 single base substitution T G intron_variant ESAD-UK 2 109815586 109815586 single base substitution C T intron_variant ESAD-UK 2 109817303 109817303 single base substitution A G intron_variant ESAD-UK 2 109817380 109817380 single base substitution G A intron_variant ESAD-UK 2 109818094 109818094 single base substitution G A intron_variant ESAD-UK 2 109819192 109819192 single base substitution G A intron_variant ESAD-UK 2 109819650 109819650 single base substitution G A intron_variant ESAD-UK 2 109820032 109820032 single base substitution C T intron_variant ESAD-UK 2 109820651 109820651 single base substitution C T intron_variant ESAD-UK 2 109822925 109822925 single base substitution C T intron_variant ESAD-UK 2 109823111 109823111 single base substitution A T intron_variant ESAD-UK 2 109823112 109823112 single base substitution T A intron_variant ESAD-UK 2 109823970 109823970 single base substitution G T intron_variant ESAD-UK 2 109824279 109824279 single base substitution A T intron_variant ESAD-UK 2 109824489 109824489 single base substitution C T intron_variant ESAD-UK 2 109824659 109824659 single base substitution G T intron_variant ESAD-UK 2 109824962 109824962 single base substitution A C intron_variant ESAD-UK 2 109825772 109825772 single base substitution G C intron_variant ESAD-UK 2 109826898 109826898 single base substitution G T intron_variant ESAD-UK 2 109827101 109827101 single base substitution G T intron_variant ESAD-UK 2 109829876 109829876 single base substitution A C intron_variant ESAD-UK 2 109832576 109832576 single base substitution C T intron_variant ESAD-UK 2 109833044 109833044 single base substitution C T intron_variant ESAD-UK 2 109834013 109834013 single base substitution G C intron_variant ESAD-UK 2 109836379 109836379 single base substitution G A intron_variant ESAD-UK 2 109837319 109837319 single base substitution T C intron_variant ESAD-UK 2 109838438 109838438 single base substitution A T intron_variant ESAD-UK 2 109838439 109838439 single base substitution A T intron_variant ESAD-UK 2 109838868 109838868 single base substitution A G intron_variant ESAD-UK 2 109839041 109839041 single base substitution C T intron_variant ESAD-UK 2 109840426 109840426 single base substitution C G intron_variant ESAD-UK 2 109841430 109841430 single base substitution A T intron_variant ESAD-UK 2 109841737 109841737 single base substitution C T intron_variant ESAD-UK 2 109842705 109842705 insertion of <=200bp - T intron_variant ESAD-UK 2 109844372 109844372 single base substitution G A intron_variant ESAD-UK 2 109846057 109846057 single base substitution A C intron_variant ESAD-UK 2 109846441 109846441 single base substitution C T intron_variant ESAD-UK 2 109849344 109849344 single base substitution G A intron_variant ESAD-UK 2 109850948 109850948 single base substitution T G intron_variant ESAD-UK 2 109851280 109851280 single base substitution C T intron_variant ESAD-UK 2 109851672 109851672 single base substitution C T intron_variant ESAD-UK 2 109854490 109854490 single base substitution C T intron_variant ESAD-UK 2 109855062 109855062 single base substitution C T intron_variant ESAD-UK 2 109856086 109856086 single base substitution G C intron_variant ESAD-UK 2 109856930 109856930 insertion of <=200bp - A intron_variant ESAD-UK 2 109857876 109857876 deletion of <=200bp A - intron_variant ESAD-UK 2 109860007 109860007 single base substitution T A intron_variant ESAD-UK 2 109860747 109860747 single base substitution C G intron_variant ESAD-UK 2 109862782 109862782 single base substitution C T intron_variant ESAD-UK 2 109863237 109863237 single base substitution C T intron_variant ESAD-UK 2 109867536 109867536 single base substitution C T intron_variant ESAD-UK 2 109868352 109868352 single base substitution G C intron_variant ESAD-UK 2 109869725 109869725 single base substitution T C intron_variant ESAD-UK 2 109869744 109869744 single base substitution G A intron_variant ESAD-UK 2 109871568 109871568 single base substitution A C intron_variant ESAD-UK 2 109872773 109872773 single base substitution G A intron_variant ESAD-UK 2 109873357 109873357 single base substitution T G intron_variant ESAD-UK 2 109873468 109873468 single base substitution C T intron_variant ESAD-UK 2 109874644 109874644 single base substitution T G intron_variant ESAD-UK 2 109874696 109874696 single base substitution C T intron_variant ESAD-UK 2 109874839 109874839 single base substitution G A intron_variant ESAD-UK 2 109877736 109877736 single base substitution G T intron_variant ESAD-UK 2 109877856 109877856 single base substitution C T intron_variant ESAD-UK 2 109878932 109878932 single base substitution G A intron_variant ESAD-UK 2 109879793 109879793 single base substitution C T intron_variant ESAD-UK 2 109880361 109880361 single base substitution C A intron_variant ESAD-UK 2 109881299 109881299 insertion of <=200bp - T intron_variant ESAD-UK 2 109882003 109882003 single base substitution A C intron_variant ESAD-UK 2 109882395 109882395 single base substitution C A intron_variant ESAD-UK 2 109885312 109885312 single base substitution A T intron_variant ESAD-UK 2 109885723 109885723 single base substitution A G intron_variant ESAD-UK 2 109886081 109886081 deletion of <=200bp A - intron_variant ESAD-UK 2 109887571 109887571 single base substitution G C intron_variant ESAD-UK 2 109890056 109890056 single base substitution A G intron_variant ESAD-UK 2 109892285 109892285 single base substitution G C intron_variant ESAD-UK 2 109893180 109893180 single base substitution A G intron_variant ESAD-UK 2 109895279 109895279 single base substitution G A intron_variant ESAD-UK 2 109895956 109895956 single base substitution T C intron_variant ESAD-UK 2 109897730 109897730 single base substitution T C intron_variant ESAD-UK 2 109897789 109897789 single base substitution C T intron_variant ESAD-UK 2 109899044 109899044 single base substitution C T intron_variant ESAD-UK 2 109899097 109899097 single base substitution G A intron_variant ESAD-UK 2 109900555 109900555 single base substitution G A intron_variant ESAD-UK 2 109900573 109900573 single base substitution C T intron_variant ESAD-UK 2 109903538 109903538 single base substitution T G intron_variant ESAD-UK 2 109903976 109903976 single base substitution G A intron_variant ESAD-UK 2 109905968 109905968 single base substitution G T intron_variant ESAD-UK 2 109908414 109908414 single base substitution A C intron_variant ESAD-UK 2 109910520 109910520 single base substitution G T intron_variant ESAD-UK 2 109911357 109911357 single base substitution A C intron_variant ESAD-UK 2 109911902 109911902 single base substitution C T intron_variant ESAD-UK 2 109912255 109912255 single base substitution C T intron_variant ESAD-UK 2 109912857 109912857 single base substitution G T intron_variant ESAD-UK 2 109913196 109913196 single base substitution G C intron_variant ESAD-UK 2 109913547 109913547 single base substitution C T intron_variant ESAD-UK 2 109913758 109913758 single base substitution C A intron_variant ESAD-UK 2 109915649 109915649 single base substitution T G intron_variant ESAD-UK 2 109916959 109916959 single base substitution T C intron_variant ESAD-UK 2 109918872 109918872 single base substitution A C intron_variant ESAD-UK 2 109919624 109919624 single base substitution G A intron_variant ESAD-UK 2 109921187 109921187 single base substitution G T intron_variant ESAD-UK 2 109921418 109921418 single base substitution T G intron_variant ESAD-UK 2 109928796 109928796 single base substitution A G intron_variant ESAD-UK 2 109930389 109930389 single base substitution G A intron_variant ESAD-UK 2 109932423 109932423 single base substitution A C intron_variant ESAD-UK 2 109933302 109933302 single base substitution T C intron_variant ESAD-UK 2 109933361 109933361 single base substitution T C intron_variant ESAD-UK 2 109934211 109934211 single base substitution T G intron_variant ESAD-UK 2 109936713 109936713 single base substitution G A intron_variant ESAD-UK 2 109937171 109937171 single base substitution G A intron_variant ESAD-UK 2 109937678 109937678 single base substitution A C intron_variant ESAD-UK 2 109938300 109938300 single base substitution G T intron_variant ESAD-UK 2 109939530 109939530 single base substitution C A intron_variant ESAD-UK 2 109941168 109941168 single base substitution A C intron_variant ESAD-UK 2 109941894 109941894 single base substitution T C intron_variant ESAD-UK 2 109942560 109942560 single base substitution T G intron_variant ESAD-UK 2 109942781 109942781 single base substitution T G intron_variant ESAD-UK 2 109945622 109945622 single base substitution C T intron_variant ESAD-UK 2 109946463 109946463 single base substitution G T intron_variant ESAD-UK 2 109946765 109946765 single base substitution A T intron_variant ESAD-UK 2 109948887 109948887 single base substitution T C intron_variant ESAD-UK 2 109949162 109949162 single base substitution C G intron_variant ESAD-UK 2 109951592 109951592 single base substitution G A intron_variant ESAD-UK 2 109952144 109952144 single base substitution G T intron_variant ESAD-UK 2 109952520 109952520 single base substitution T C intron_variant ESAD-UK 2 109953777 109953777 single base substitution G A intron_variant ESAD-UK 2 109956204 109956204 single base substitution C A intron_variant ESAD-UK 2 109957630 109957630 single base substitution A C intron_variant ESAD-UK 2 109957932 109957932 single base substitution C T intron_variant ESAD-UK 2 109960367 109960367 insertion of <=200bp - A intron_variant ESAD-UK 2 109961843 109961843 single base substitution G A intron_variant ESAD-UK 2 109964908 109964908 single base substitution C T intron_variant ESAD-UK 2 109966403 109966403 single base substitution C T intron_variant ESAD-UK 2 109966814 109966814 single base substitution G A intron_variant ESAD-UK 2 109968489 109968489 single base substitution C T intron_variant ESAD-UK 2 109969318 109969318 single base substitution G T intron_variant ESAD-UK 2 109970383 109970383 single base substitution C T intron_variant ESAD-UK 2 109971256 109971256 single base substitution A C intron_variant ESAD-UK 2 109973519 109973519 insertion of <=200bp - G intron_variant ESAD-UK 2 109973523 109973523 single base substitution T A intron_variant ESAD-UK 2 109973677 109973677 single base substitution G A intron_variant ESAD-UK 2 109974010 109974010 single base substitution G A intron_variant ESAD-UK 2 109974442 109974442 single base substitution C G intron_variant ESAD-UK 2 109974698 109974698 single base substitution T C intron_variant ESAD-UK 2 109975318 109975318 single base substitution C A intron_variant ESAD-UK 2 109975433 109975433 single base substitution T G intron_variant ESAD-UK 2 109976121 109976121 single base substitution A C intron_variant ESAD-UK 2 109978056 109978056 single base substitution A T intron_variant ESAD-UK 2 109978342 109978342 single base substitution T C intron_variant ESAD-UK 2 109979100 109979100 single base substitution T C intron_variant ESAD-UK 2 109979216 109979216 single base substitution C T intron_variant ESAD-UK 2 109980643 109980643 single base substitution T A intron_variant ESAD-UK 2 109980763 109980763 single base substitution G T intron_variant ESAD-UK 2 109982284 109982284 single base substitution G A intron_variant ESAD-UK 2 109983413 109983413 single base substitution A C intron_variant ESAD-UK 2 109984623 109984623 insertion of <=200bp - T intron_variant ESAD-UK 2 109985286 109985286 single base substitution T G intron_variant ESAD-UK 2 109985939 109985939 single base substitution T A intron_variant ESAD-UK 2 109987109 109987109 single base substitution C T intron_variant ESAD-UK 2 109988038 109988038 single base substitution G A splice_region_variant ESAD-UK 2 109990397 109990397 single base substitution C A intron_variant ESAD-UK 2 109990911 109990911 single base substitution G A intron_variant ESAD-UK 2 109990953 109990953 single base substitution C T intron_variant ESAD-UK 2 109991206 109991206 single base substitution G T intron_variant ESAD-UK 2 109991980 109991980 single base substitution C T intron_variant ESAD-UK 2 109992895 109992895 single base substitution C G intron_variant ESAD-UK 2 109992908 109992908 single base substitution T G intron_variant ESAD-UK 2 109993021 109993021 single base substitution C T intron_variant ESAD-UK 2 109993431 109993431 single base substitution G A intron_variant ESAD-UK 2 109994505 109994505 single base substitution C T intron_variant ESAD-UK 2 109995130 109995130 single base substitution A G intron_variant ESAD-UK 2 109996655 109996655 single base substitution C T intron_variant ESAD-UK 2 109997023 109997023 single base substitution G A intron_variant ESAD-UK 2 109997096 109997096 single base substitution G C intron_variant ESAD-UK 2 109999651 109999651 insertion of <=200bp - GT intron_variant ESAD-UK 2 110000464 110000464 single base substitution G A intron_variant ESAD-UK 2 110001882 110001882 single base substitution C A intron_variant ESAD-UK 2 110002495 110002495 single base substitution G A intron_variant ESAD-UK 2 110004545 110004545 single base substitution A G intron_variant ESAD-UK 2 110005976 110005976 deletion of <=200bp A - intron_variant ESAD-UK 2 110006466 110006466 single base substitution G T intron_variant ESAD-UK 2 110009648 110009648 single base substitution C T intron_variant ESAD-UK 2 110010526 110010526 single base substitution C T intron_variant ESAD-UK 2 110010736 110010736 single base substitution C T intron_variant ESAD-UK 2 110010834 110010834 single base substitution C T intron_variant ESAD-UK 2 110011276 110011276 single base substitution T G intron_variant ESAD-UK 2 110011549 110011549 single base substitution G A intron_variant ESAD-UK 2 110011626 110011626 single base substitution G A intron_variant ESAD-UK 2 110011632 110011632 single base substitution C T intron_variant ESAD-UK 2 110013296 110013296 single base substitution G T intron_variant ESAD-UK 2 110014497 110014497 single base substitution G A intron_variant ESAD-UK 2 110015151 110015151 single base substitution G A missense_variant V351M 1051G>A ESAD-UK 2 110015295 110015295 single base substitution C A missense_variant H399N 1195C>A ESAD-UK 2 110015604 110015604 single base substitution A G intron_variant ESAD-UK 2 110016167 110016167 single base substitution T C intron_variant ESAD-UK 2 110016465 110016465 single base substitution C A intron_variant ESAD-UK 2 110016921 110016921 single base substitution A T intron_variant ESAD-UK 2 110017884 110017884 single base substitution C A intron_variant ESAD-UK 2 110018640 110018640 single base substitution C G intron_variant ESAD-UK 2 110019270 110019270 single base substitution T C intron_variant ESAD-UK 2 110019676 110019676 single base substitution C T intron_variant ESAD-UK 2 110020606 110020606 single base substitution C T intron_variant ESAD-UK 2 110021438 110021438 single base substitution T C intron_variant ESAD-UK 2 110021457 110021457 single base substitution C G intron_variant ESAD-UK 2 110022187 110022187 single base substitution C T intron_variant ESAD-UK 2 110023290 110023290 single base substitution C T intron_variant ESAD-UK 2 110024981 110024981 single base substitution C T intron_variant ESAD-UK 2 110027341 110027341 single base substitution A C intron_variant ESAD-UK 2 110029032 110029032 single base substitution T G intron_variant ESAD-UK 2 110029084 110029084 single base substitution A G intron_variant ESAD-UK 2 110029524 110029524 single base substitution G A intron_variant ESAD-UK 2 110029572 110029572 single base substitution T A intron_variant ESAD-UK 2 110031355 110031355 single base substitution G C intron_variant ESAD-UK 2 110032625 110032625 single base substitution A C intron_variant ESAD-UK 2 110032998 110032998 insertion of <=200bp - GCCTGG intron_variant ESAD-UK 2 110033267 110033267 single base substitution C T intron_variant ESAD-UK 2 110033679 110033679 single base substitution A C intron_variant ESAD-UK 2 110034853 110034853 single base substitution A C intron_variant ESAD-UK 2 110035309 110035309 single base substitution G T intron_variant ESAD-UK 2 110037610 110037610 single base substitution G A intron_variant ESAD-UK 2 110038207 110038207 single base substitution G T intron_variant ESAD-UK 2 110040144 110040144 single base substitution G T intron_variant ESAD-UK 2 110040381 110040381 single base substitution G A intron_variant ESAD-UK 2 110040821 110040821 single base substitution C A intron_variant ESAD-UK 2 110040935 110040935 deletion of <=200bp T - intron_variant ESAD-UK 2 110042294 110042294 single base substitution G A intron_variant ESAD-UK 2 110042324 110042324 single base substitution T G intron_variant ESAD-UK 2 110043072 110043072 single base substitution G T intron_variant ESAD-UK 2 110043095 110043095 single base substitution A G intron_variant ESAD-UK 2 110044167 110044167 single base substitution C T intron_variant ESAD-UK 2 110045706 110045706 single base substitution C T intron_variant ESAD-UK 2 110046087 110046087 single base substitution A C intron_variant ESAD-UK 2 110046615 110046615 single base substitution A T intron_variant ESAD-UK 2 110046739 110046739 single base substitution T G intron_variant ESAD-UK 2 110046765 110046765 single base substitution T C intron_variant ESAD-UK 2 110047263 110047263 single base substitution A G intron_variant ESAD-UK 2 110047735 110047735 single base substitution G T intron_variant ESAD-UK 2 110048736 110048736 single base substitution C A intron_variant ESAD-UK 2 110048977 110048977 single base substitution A G missense_variant Y475C 1424A>G ESAD-UK 2 110049099 110049099 single base substitution C T missense_variant P516S 1546C>T ESAD-UK 2 110050459 110050459 single base substitution G A intron_variant ESAD-UK 2 110050668 110050668 single base substitution G A intron_variant ESAD-UK 2 110051183 110051183 single base substitution A T intron_variant ESAD-UK 2 110051230 110051230 single base substitution C T intron_variant ESAD-UK 2 110051231 110051231 single base substitution G A intron_variant ESAD-UK 2 110052814 110052814 single base substitution G C intron_variant ESAD-UK 2 110054137 110054137 single base substitution G A intron_variant ESAD-UK 2 110054938 110054938 single base substitution G A intron_variant ESAD-UK 2 110056128 110056128 single base substitution G T intron_variant ESAD-UK 2 110056631 110056631 single base substitution A T intron_variant ESAD-UK 2 110056787 110056787 single base substitution G T intron_variant ESAD-UK 2 110057946 110057946 single base substitution G A intron_variant ESAD-UK 2 110060485 110060485 single base substitution A G intron_variant ESAD-UK 2 110060672 110060672 single base substitution G C intron_variant ESAD-UK 2 110061390 110061390 single base substitution C A intron_variant ESAD-UK 2 110061525 110061525 single base substitution C A intron_variant ESAD-UK 2 110061994 110061994 single base substitution G C intron_variant ESAD-UK 2 110062077 110062077 single base substitution G A intron_variant ESAD-UK 2 110062709 110062709 single base substitution G T intron_variant ESAD-UK 2 110065451 110065451 single base substitution G A intron_variant ESAD-UK 2 110067460 110067460 single base substitution C T downstream_gene_variant ESAD-UK 2 110067460 110067460 single base substitution C T intron_variant ESAD-UK 2 110068938 110068938 single base substitution G A downstream_gene_variant ESAD-UK 2 110068938 110068938 single base substitution G A intron_variant ESAD-UK 2 110069196 110069196 single base substitution T C downstream_gene_variant ESAD-UK 2 110069196 110069196 single base substitution T C intron_variant ESAD-UK 2 110070005 110070005 single base substitution G A downstream_gene_variant ESAD-UK 2 110070005 110070005 single base substitution G A intron_variant ESAD-UK 2 110071020 110071020 single base substitution G A intron_variant ESAD-UK 2 110071606 110071606 single base substitution A C intron_variant ESAD-UK 2 110073256 110073256 single base substitution C A intron_variant ESAD-UK 2 110073468 110073468 single base substitution G A intron_variant ESAD-UK 2 110074334 110074334 single base substitution C G intron_variant ESAD-UK 2 110076049 110076049 single base substitution A C intron_variant ESAD-UK 2 110078271 110078271 deletion of <=200bp T - intron_variant ESAD-UK 2 110078448 110078448 single base substitution G T intron_variant ESAD-UK 2 110080550 110080550 single base substitution C T intron_variant ESAD-UK 2 110080559 110080559 single base substitution G A intron_variant ESAD-UK 2 110080895 110080895 single base substitution G A intron_variant ESAD-UK 2 110081919 110081919 single base substitution T C intron_variant ESAD-UK 2 110082591 110082591 single base substitution A C intron_variant ESAD-UK 2 110084420 110084420 single base substitution C G intron_variant ESAD-UK 2 110086687 110086687 single base substitution T G intron_variant ESAD-UK 2 110088795 110088795 single base substitution G A intron_variant ESAD-UK 2 110088960 110088960 single base substitution G C intron_variant ESAD-UK 2 110089204 110089204 single base substitution G C intron_variant ESAD-UK 2 110089836 110089836 single base substitution C A intron_variant ESAD-UK 2 110089989 110089989 single base substitution G A intron_variant ESAD-UK 2 110095743 110095743 single base substitution T G intron_variant ESAD-UK 2 110098954 110098954 single base substitution A T intron_variant ESAD-UK 2 110098986 110098986 single base substitution G A intron_variant ESAD-UK 2 110099779 110099779 single base substitution C T intron_variant ESAD-UK 2 110102030 110102030 single base substitution C A intron_variant ESAD-UK 2 110105382 110105382 single base substitution G A intron_variant ESAD-UK 2 110106254 110106254 single base substitution C T intron_variant ESAD-UK 2 110106829 110106829 single base substitution G A intron_variant ESAD-UK 2 110106885 110106885 single base substitution A C intron_variant ESAD-UK 2 110255345 110255345 single base substitution A C intron_variant ESAD-UK 2 110255345 110255345 single base substitution A C upstream_gene_variant ESAD-UK 2 110256763 110256763 single base substitution G T intron_variant ESAD-UK 2 110256763 110256763 single base substitution G T upstream_gene_variant ESAD-UK 2 110256854 110256854 single base substitution C T intron_variant ESAD-UK 2 110256854 110256854 single base substitution C T upstream_gene_variant ESAD-UK 2 110257631 110257631 single base substitution C A intron_variant ESAD-UK 2 110257631 110257631 single base substitution C A upstream_gene_variant ESAD-UK 2 110258500 110258500 single base substitution C A intron_variant ESAD-UK 2 110258500 110258500 single base substitution C A upstream_gene_variant ESAD-UK 2 110258856 110258856 single base substitution C T intron_variant ESAD-UK 2 110258856 110258856 single base substitution C T upstream_gene_variant ESAD-UK 2 110260159 110260159 single base substitution A G 3_prime_UTR_variant ESAD-UK 2 110260159 110260159 single base substitution A G downstream_gene_variant ESAD-UK 2 110260529 110260529 single base substitution T C 3_prime_UTR_variant ESAD-UK 2 110260529 110260529 single base substitution T C downstream_gene_variant ESAD-UK 2 110261139 110261139 single base substitution C A 3_prime_UTR_variant ESAD-UK 2 110261139 110261139 single base substitution C A downstream_gene_variant ESAD-UK 2 110261228 110261228 single base substitution G T 3_prime_UTR_variant ESAD-UK 2 110261228 110261228 single base substitution G T downstream_gene_variant ESAD-UK 2 110262277 110262277 single base substitution A C downstream_gene_variant ESAD-UK 2 110262684 110262684 single base substitution A G downstream_gene_variant ESAD-UK 2 110263102 110263102 single base substitution T A downstream_gene_variant ESAD-UK 2 110263108 110263108 single base substitution A C downstream_gene_variant ESAD-UK 2 110263145 110263145 single base substitution A T downstream_gene_variant ESAD-UK 2 110266061 110266061 single base substitution G T downstream_gene_variant ESCA-CN 2 110107310 110107310 single base substitution C G missense_variant L800V 2398C>G ESCA-CN 2 110259739 110259739 single base substitution G A 3_prime_UTR_variant ESCA-CN 2 110259739 110259739 single base substitution G A downstream_gene_variant GBM-US 2 110015136 110015136 single base substitution G A missense_variant G346S 1036G>A KIRC-US 2 110053415 110053415 single base substitution G T synonymous_variant G547G 1641G>T LAML-KR 2 109805838 109805838 single base substitution C T intron_variant LAML-KR 2 109808347 109808347 single base substitution T C intron_variant LAML-KR 2 109815847 109815847 single base substitution A C intron_variant LAML-KR 2 109816237 109816237 single base substitution A T intron_variant LAML-KR 2 109847492 109847492 single base substitution C T intron_variant LAML-KR 2 109880825 109880825 single base substitution C T intron_variant LAML-KR 2 109880882 109880882 single base substitution C G intron_variant LAML-KR 2 109925192 109925192 single base substitution G A intron_variant LAML-KR 2 109925960 109925960 single base substitution T C intron_variant LAML-KR 2 109964431 109964431 single base substitution C T intron_variant LAML-KR 2 109986689 109986689 single base substitution C G intron_variant LAML-KR 2 110054203 110054203 single base substitution G A intron_variant LAML-KR 2 110078093 110078093 single base substitution G A intron_variant LAML-KR 2 110090136 110090136 single base substitution G T intron_variant LICA-CN 2 109964228 109964228 single base substitution G A synonymous_variant R224R 672G>A LICA-CN 2 110065720 110065720 single base substitution C T synonymous_variant S641S 1923C>T LICA-CN 2 110107317 110107317 single base substitution T A missense_variant F802Y 2405T>A LICA-CN 2 110107318 110107318 single base substitution C A missense_variant F802L 2406C>A LICA-FR 2 109746041 109746041 single base substitution C A synonymous_variant A15A 45C>A LICA-FR 2 109746354 109746354 single base substitution G A missense_variant G120S 358G>A LICA-FR 2 109757878 109757878 single base substitution G T intron_variant LICA-FR 2 109769208 109769208 single base substitution G A intron_variant LICA-FR 2 109770820 109770820 single base substitution T A intron_variant LICA-FR 2 109778471 109778471 single base substitution C T intron_variant LICA-FR 2 109782014 109782014 single base substitution G A intron_variant LICA-FR 2 109798104 109798104 single base substitution G A intron_variant LICA-FR 2 109805390 109805390 deletion of <=200bp A - intron_variant LICA-FR 2 109810263 109810263 single base substitution A G intron_variant LICA-FR 2 109816255 109816255 single base substitution G A intron_variant LICA-FR 2 109816256 109816256 single base substitution A T intron_variant LICA-FR 2 109816273 109816273 single base substitution T G intron_variant LICA-FR 2 109821718 109821718 deletion of <=200bp T - intron_variant LICA-FR 2 109849885 109849885 single base substitution T C intron_variant LICA-FR 2 109865984 109865984 single base substitution T C intron_variant LICA-FR 2 109883289 109883289 single base substitution A C intron_variant LICA-FR 2 109893942 109893942 single base substitution G T intron_variant LICA-FR 2 109906656 109906656 deletion of <=200bp T - intron_variant LICA-FR 2 109909478 109909478 single base substitution G A intron_variant LICA-FR 2 109916993 109916993 single base substitution G C intron_variant LICA-FR 2 109924808 109924808 single base substitution A G intron_variant LICA-FR 2 109952519 109952519 single base substitution C T intron_variant LICA-FR 2 109955845 109955845 single base substitution C T intron_variant LICA-FR 2 109964331 109964331 single base substitution C T missense_variant P259S 775C>T LICA-FR 2 110015154 110015154 single base substitution G A missense_variant A352T 1054G>A LICA-FR 2 110015263 110015263 single base substitution C T missense_variant T388M 1163C>T LICA-FR 2 110020940 110020940 single base substitution G A intron_variant LICA-FR 2 110037727 110037727 single base substitution G T intron_variant LICA-FR 2 110046691 110046691 single base substitution C T intron_variant LICA-FR 2 110049107 110049107 single base substitution C T synonymous_variant N518N 1554C>T LICA-FR 2 110053553 110053553 single base substitution G T synonymous_variant R593R 1779G>T LICA-FR 2 110053599 110053599 single base substitution A G missense_variant T609A 1825A>G LICA-FR 2 110065785 110065785 single base substitution G A missense_variant R663Q 1988G>A LICA-FR 2 110065837 110065837 single base substitution C A synonymous_variant V680V 2040C>A LICA-FR 2 110072121 110072121 single base substitution C T intron_variant LICA-FR 2 110094070 110094075 deletion of <=200bp GTGTGT - intron_variant LICA-FR 2 110098579 110098579 single base substitution G T intron_variant LICA-FR 2 110107197 110107197 single base substitution C T missense_variant P762L 2285C>T LICA-FR 2 110107855 110107855 single base substitution A C intron_variant LICA-FR 2 110253876 110253876 single base substitution A C intron_variant LICA-FR 2 110254844 110254862 deletion of <=200bp CATTCCATGGACTCAGGGG - intron_variant LICA-FR 2 110254844 110254862 deletion of <=200bp CATTCCATGGACTCAGGGG - upstream_gene_variant LICA-FR 2 110255154 110255154 single base substitution G C intron_variant LICA-FR 2 110255154 110255154 single base substitution G C upstream_gene_variant LICA-FR 2 110259085 110259085 single base substitution G A missense_variant R2H 5G>A LICA-FR 2 110259085 110259085 single base substitution G A missense_variant R829H 2486G>A LIHC-US 2 109964184 109964184 single base substitution C A missense_variant P210T 628C>A LIHC-US 2 110015366 110015366 single base substitution C G missense_variant D422E 1266C>G LIHC-US 2 110053581 110053581 single base substitution G T missense_variant A603S 1807G>T LIHC-US 2 110259210 110259210 single base substitution A G missense_variant T44A 130A>G LIHC-US 2 110259210 110259210 single base substitution A G missense_variant T871A 2611A>G LINC-JP 2 109743575 109743575 single base substitution A T upstream_gene_variant LINC-JP 2 109761686 109761686 single base substitution C T intron_variant LINC-JP 2 109763247 109763247 insertion of <=200bp - C intron_variant LINC-JP 2 109774890 109774890 deletion of <=200bp G - intron_variant LINC-JP 2 109779336 109779336 insertion of <=200bp - A intron_variant LINC-JP 2 109796575 109796575 deletion of <=200bp T - intron_variant LINC-JP 2 109798928 109798928 single base substitution T C intron_variant LINC-JP 2 109805717 109805717 single base substitution G C intron_variant LINC-JP 2 109805838 109805838 single base substitution C T intron_variant LINC-JP 2 109813177 109813177 single base substitution G A intron_variant LINC-JP 2 109822994 109822994 single base substitution G T intron_variant LINC-JP 2 109840959 109840959 single base substitution C T intron_variant LINC-JP 2 109849400 109849400 single base substitution G A intron_variant LINC-JP 2 109874594 109874594 single base substitution G T intron_variant LINC-JP 2 109891088 109891088 single base substitution G A intron_variant LINC-JP 2 109892395 109892395 single base substitution G C intron_variant LINC-JP 2 109914388 109914388 deletion of <=200bp C - intron_variant LINC-JP 2 109918222 109918222 single base substitution C T intron_variant LINC-JP 2 109920161 109920161 single base substitution A G intron_variant LINC-JP 2 109932379 109932379 single base substitution G T intron_variant LINC-JP 2 109942262 109942262 single base substitution G T intron_variant LINC-JP 2 109949258 109949258 single base substitution T A intron_variant LINC-JP 2 109968637 109968637 single base substitution T C intron_variant LINC-JP 2 109972070 109972070 single base substitution T A intron_variant LINC-JP 2 109972988 109972988 single base substitution G A intron_variant LINC-JP 2 109977202 109977202 single base substitution G A intron_variant LINC-JP 2 109989181 109989181 single base substitution C T intron_variant LINC-JP 2 110017568 110017568 single base substitution A G intron_variant LINC-JP 2 110024212 110024212 single base substitution A T intron_variant LINC-JP 2 110025145 110025145 single base substitution A G intron_variant LINC-JP 2 110040103 110040103 single base substitution T C intron_variant LINC-JP 2 110040735 110040735 single base substitution G A intron_variant LINC-JP 2 110046224 110046224 single base substitution A C intron_variant LINC-JP 2 110048416 110048416 deletion of <=200bp A - intron_variant LINC-JP 2 110050452 110050452 single base substitution C T intron_variant LINC-JP 2 110053142 110053142 deletion of <=200bp T - intron_variant LINC-JP 2 110054925 110054925 single base substitution T C intron_variant LINC-JP 2 110057879 110057879 single base substitution T G intron_variant LINC-JP 2 110065952 110065952 single base substitution G A downstream_gene_variant LINC-JP 2 110065952 110065952 single base substitution G A splice_region_variant LINC-JP 2 110090539 110090539 deletion of <=200bp T - intron_variant LINC-JP 2 110091220 110091220 single base substitution A T intron_variant LINC-JP 2 110096015 110096015 single base substitution G T intron_variant LINC-JP 2 110105839 110105839 single base substitution G A intron_variant LINC-JP 2 110251382 110251382 single base substitution G T intron_variant LINC-JP 2 110251384 110251384 single base substitution T A intron_variant LINC-JP 2 110251397 110251397 single base substitution C T intron_variant LIRI-JP 2 109741070 109741070 single base substitution G T upstream_gene_variant LIRI-JP 2 109741399 109741399 single base substitution C T upstream_gene_variant LIRI-JP 2 109743925 109743925 single base substitution T A upstream_gene_variant LIRI-JP 2 109747422 109747422 single base substitution C A intron_variant LIRI-JP 2 109747594 109747594 single base substitution G A intron_variant LIRI-JP 2 109747753 109747758 deletion of <=200bp CACTGG - intron_variant LIRI-JP 2 109751496 109751496 single base substitution C G intron_variant LIRI-JP 2 109751902 109751902 single base substitution G C intron_variant LIRI-JP 2 109753849 109753849 single base substitution A G intron_variant LIRI-JP 2 109754441 109754441 single base substitution G A intron_variant LIRI-JP 2 109754617 109754617 single base substitution G A intron_variant LIRI-JP 2 109756144 109756144 single base substitution A G intron_variant LIRI-JP 2 109756381 109756381 deletion of <=200bp T - intron_variant LIRI-JP 2 109758522 109758522 single base substitution G A intron_variant LIRI-JP 2 109758850 109758850 single base substitution G T intron_variant LIRI-JP 2 109758891 109758891 single base substitution G A intron_variant LIRI-JP 2 109759196 109759196 single base substitution T G intron_variant LIRI-JP 2 109760712 109760712 single base substitution T C intron_variant LIRI-JP 2 109762639 109762639 single base substitution C G intron_variant LIRI-JP 2 109763714 109763714 single base substitution A T intron_variant LIRI-JP 2 109764347 109764347 single base substitution C G intron_variant LIRI-JP 2 109764435 109764435 single base substitution C A intron_variant LIRI-JP 2 109765478 109765478 single base substitution C T intron_variant LIRI-JP 2 109765791 109765791 single base substitution C T intron_variant LIRI-JP 2 109766133 109766133 single base substitution C T intron_variant LIRI-JP 2 109767781 109767781 single base substitution T A intron_variant LIRI-JP 2 109768067 109768067 single base substitution A T intron_variant LIRI-JP 2 109768724 109768724 single base substitution T G intron_variant LIRI-JP 2 109770857 109770857 single base substitution G A intron_variant LIRI-JP 2 109776758 109776758 single base substitution C A intron_variant LIRI-JP 2 109778289 109778289 single base substitution A T intron_variant LIRI-JP 2 109778473 109778473 single base substitution C T intron_variant LIRI-JP 2 109778676 109778676 single base substitution C G intron_variant LIRI-JP 2 109779312 109779312 single base substitution A G intron_variant LIRI-JP 2 109784961 109784961 single base substitution G A intron_variant LIRI-JP 2 109785851 109785852 deletion of <=200bp TG - intron_variant LIRI-JP 2 109786582 109786582 single base substitution T C intron_variant LIRI-JP 2 109787090 109787090 single base substitution G A intron_variant LIRI-JP 2 109787134 109787134 single base substitution T C intron_variant LIRI-JP 2 109787197 109787197 single base substitution G A intron_variant LIRI-JP 2 109788546 109788546 single base substitution G A intron_variant LIRI-JP 2 109789664 109789664 single base substitution C G intron_variant LIRI-JP 2 109790238 109790238 single base substitution T G intron_variant LIRI-JP 2 109790921 109790921 single base substitution G T intron_variant LIRI-JP 2 109791058 109791058 single base substitution T C intron_variant LIRI-JP 2 109791231 109791231 single base substitution G A intron_variant LIRI-JP 2 109791412 109791412 single base substitution G A intron_variant LIRI-JP 2 109792340 109792340 single base substitution T C intron_variant LIRI-JP 2 109792564 109792564 single base substitution C T intron_variant LIRI-JP 2 109794337 109794337 single base substitution T C intron_variant LIRI-JP 2 109795261 109795261 single base substitution T G intron_variant LIRI-JP 2 109795876 109795876 single base substitution A G intron_variant LIRI-JP 2 109796317 109796317 single base substitution C A intron_variant LIRI-JP 2 109796846 109796846 single base substitution A C intron_variant LIRI-JP 2 109796890 109796890 single base substitution C T intron_variant LIRI-JP 2 109798727 109798727 single base substitution G A intron_variant LIRI-JP 2 109799999 109799999 single base substitution A T intron_variant LIRI-JP 2 109800799 109800799 single base substitution G A intron_variant LIRI-JP 2 109801384 109801384 single base substitution A G intron_variant LIRI-JP 2 109801937 109801937 single base substitution T G intron_variant LIRI-JP 2 109801967 109801967 single base substitution G A intron_variant LIRI-JP 2 109803480 109803480 single base substitution G T intron_variant LIRI-JP 2 109803597 109803597 single base substitution T A intron_variant LIRI-JP 2 109803616 109803616 single base substitution C G intron_variant LIRI-JP 2 109804460 109804460 single base substitution T C intron_variant LIRI-JP 2 109806076 109806076 single base substitution G A intron_variant LIRI-JP 2 109806420 109806420 single base substitution C G intron_variant LIRI-JP 2 109806654 109806654 single base substitution A G intron_variant LIRI-JP 2 109807010 109807010 single base substitution C T intron_variant LIRI-JP 2 109807842 109807842 single base substitution T C intron_variant LIRI-JP 2 109809260 109809260 single base substitution A G intron_variant LIRI-JP 2 109811539 109811539 single base substitution C A intron_variant LIRI-JP 2 109812905 109812905 single base substitution C T intron_variant LIRI-JP 2 109813127 109813127 single base substitution G C intron_variant LIRI-JP 2 109817189 109817189 single base substitution G T intron_variant LIRI-JP 2 109818821 109818821 single base substitution C A intron_variant LIRI-JP 2 109820559 109820559 single base substitution C A intron_variant LIRI-JP 2 109821905 109821905 single base substitution C A intron_variant LIRI-JP 2 109822172 109822172 single base substitution G T intron_variant LIRI-JP 2 109822620 109822620 single base substitution A G intron_variant LIRI-JP 2 109824420 109824420 single base substitution A G intron_variant LIRI-JP 2 109825513 109825513 single base substitution C T intron_variant LIRI-JP 2 109825881 109825881 single base substitution C T intron_variant LIRI-JP 2 109827014 109827014 single base substitution G A intron_variant LIRI-JP 2 109827357 109827357 single base substitution A G intron_variant LIRI-JP 2 109829892 109829892 single base substitution A G intron_variant LIRI-JP 2 109833957 109833957 single base substitution A C intron_variant LIRI-JP 2 109838853 109838853 single base substitution T C intron_variant LIRI-JP 2 109839595 109839595 single base substitution A T intron_variant LIRI-JP 2 109840806 109840806 single base substitution G A intron_variant LIRI-JP 2 109841263 109841263 single base substitution A C intron_variant LIRI-JP 2 109842940 109842940 single base substitution A C intron_variant LIRI-JP 2 109843176 109843176 single base substitution C T intron_variant LIRI-JP 2 109843546 109843546 single base substitution T C intron_variant LIRI-JP 2 109844556 109844566 deletion of <=200bp ACATACAGGCA - intron_variant LIRI-JP 2 109845227 109845227 single base substitution G A intron_variant LIRI-JP 2 109848289 109848289 single base substitution A G intron_variant LIRI-JP 2 109849286 109849286 single base substitution G A intron_variant LIRI-JP 2 109850543 109850543 single base substitution T A intron_variant LIRI-JP 2 109851270 109851270 single base substitution T C intron_variant LIRI-JP 2 109853033 109853033 single base substitution A G intron_variant LIRI-JP 2 109853419 109853419 single base substitution G T intron_variant LIRI-JP 2 109855502 109855502 single base substitution T C intron_variant LIRI-JP 2 109856905 109856905 single base substitution C A intron_variant LIRI-JP 2 109857011 109857011 single base substitution G A intron_variant LIRI-JP 2 109857145 109857145 single base substitution A G intron_variant LIRI-JP 2 109857152 109857152 single base substitution T C intron_variant LIRI-JP 2 109857515 109857515 single base substitution A G intron_variant LIRI-JP 2 109860812 109860812 single base substitution T C intron_variant LIRI-JP 2 109861024 109861024 single base substitution A G intron_variant LIRI-JP 2 109861239 109861239 single base substitution G T intron_variant LIRI-JP 2 109861939 109861939 single base substitution A G intron_variant LIRI-JP 2 109864813 109864813 single base substitution A G intron_variant LIRI-JP 2 109868281 109868281 single base substitution A G intron_variant LIRI-JP 2 109868892 109868892 single base substitution C T intron_variant LIRI-JP 2 109870825 109870825 single base substitution A T intron_variant LIRI-JP 2 109870826 109870826 single base substitution G C intron_variant LIRI-JP 2 109870870 109870870 single base substitution T G intron_variant LIRI-JP 2 109875440 109875440 single base substitution A T intron_variant LIRI-JP 2 109879595 109879595 single base substitution C A intron_variant LIRI-JP 2 109879719 109879719 single base substitution T C intron_variant LIRI-JP 2 109883574 109883574 single base substitution T A intron_variant LIRI-JP 2 109886744 109886744 single base substitution C A intron_variant LIRI-JP 2 109887846 109887846 single base substitution A G intron_variant LIRI-JP 2 109890627 109890627 single base substitution G A intron_variant LIRI-JP 2 109892550 109892550 single base substitution G T intron_variant LIRI-JP 2 109892777 109892777 single base substitution C A intron_variant LIRI-JP 2 109892941 109892941 single base substitution T C intron_variant LIRI-JP 2 109893397 109893397 single base substitution A T intron_variant LIRI-JP 2 109893696 109893696 single base substitution A T intron_variant LIRI-JP 2 109893771 109893771 single base substitution G T intron_variant LIRI-JP 2 109900149 109900149 single base substitution G T intron_variant LIRI-JP 2 109902425 109902425 single base substitution C A intron_variant LIRI-JP 2 109902426 109902426 single base substitution C A intron_variant LIRI-JP 2 109904013 109904013 single base substitution A T intron_variant LIRI-JP 2 109909024 109909024 single base substitution C G intron_variant LIRI-JP 2 109909855 109909855 single base substitution C A intron_variant LIRI-JP 2 109910926 109910926 single base substitution A T intron_variant LIRI-JP 2 109911465 109911465 single base substitution C A intron_variant LIRI-JP 2 109914759 109914759 insertion of <=200bp - G intron_variant LIRI-JP 2 109918859 109918859 single base substitution C T intron_variant LIRI-JP 2 109919615 109919615 single base substitution A T intron_variant LIRI-JP 2 109921008 109921008 single base substitution A C intron_variant LIRI-JP 2 109923466 109923466 single base substitution C T intron_variant LIRI-JP 2 109928441 109928441 single base substitution G A intron_variant LIRI-JP 2 109929238 109929238 single base substitution A C intron_variant LIRI-JP 2 109929278 109929278 single base substitution G T intron_variant LIRI-JP 2 109929457 109929457 single base substitution G C intron_variant LIRI-JP 2 109930218 109930218 single base substitution G A intron_variant LIRI-JP 2 109931699 109931699 single base substitution A G intron_variant LIRI-JP 2 109931882 109931882 single base substitution G T intron_variant LIRI-JP 2 109933845 109933845 single base substitution T A intron_variant LIRI-JP 2 109933866 109933866 single base substitution G T intron_variant LIRI-JP 2 109933868 109933868 single base substitution G T intron_variant LIRI-JP 2 109934778 109934778 single base substitution C T intron_variant LIRI-JP 2 109935025 109935025 single base substitution A G intron_variant LIRI-JP 2 109937520 109937520 single base substitution T C intron_variant LIRI-JP 2 109943892 109943892 single base substitution A G intron_variant LIRI-JP 2 109946104 109946104 single base substitution T C intron_variant LIRI-JP 2 109949792 109949792 single base substitution G A intron_variant LIRI-JP 2 109950778 109950778 single base substitution G C intron_variant LIRI-JP 2 109951713 109951713 single base substitution C T intron_variant LIRI-JP 2 109953479 109953479 single base substitution T C intron_variant LIRI-JP 2 109956240 109956240 single base substitution G T intron_variant LIRI-JP 2 109956818 109956818 single base substitution G A intron_variant LIRI-JP 2 109957564 109957564 single base substitution G T intron_variant LIRI-JP 2 109959042 109959042 single base substitution G T intron_variant LIRI-JP 2 109959691 109959691 single base substitution A G intron_variant LIRI-JP 2 109963994 109963994 single base substitution T G intron_variant LIRI-JP 2 109964187 109964187 single base substitution G T missense_variant G211C 631G>T LIRI-JP 2 109965104 109965104 single base substitution G T intron_variant LIRI-JP 2 109965997 109965997 single base substitution G A intron_variant LIRI-JP 2 109967035 109967035 single base substitution C T intron_variant LIRI-JP 2 109968058 109968058 single base substitution G T intron_variant LIRI-JP 2 109969290 109969290 single base substitution C A intron_variant LIRI-JP 2 109969627 109969627 single base substitution C A intron_variant LIRI-JP 2 109970773 109970773 single base substitution G A intron_variant LIRI-JP 2 109971033 109971033 single base substitution T A intron_variant LIRI-JP 2 109972438 109972438 single base substitution G T intron_variant LIRI-JP 2 109972947 109972947 single base substitution G A intron_variant LIRI-JP 2 109973037 109973037 single base substitution T A intron_variant LIRI-JP 2 109973065 109973065 single base substitution G T intron_variant LIRI-JP 2 109973606 109973606 single base substitution G A intron_variant LIRI-JP 2 109974270 109974270 single base substitution A C intron_variant LIRI-JP 2 109976234 109976234 single base substitution G A intron_variant LIRI-JP 2 109976476 109976476 single base substitution C G intron_variant LIRI-JP 2 109976830 109976830 single base substitution G C intron_variant LIRI-JP 2 109989798 109989798 single base substitution C A intron_variant LIRI-JP 2 109993371 109993371 single base substitution G T intron_variant LIRI-JP 2 109993726 109993726 single base substitution C T intron_variant LIRI-JP 2 109993926 109993926 single base substitution A G intron_variant LIRI-JP 2 109993941 109993941 single base substitution C G intron_variant LIRI-JP 2 109996718 109996718 single base substitution A G intron_variant LIRI-JP 2 110001084 110001084 single base substitution C T intron_variant LIRI-JP 2 110001598 110001598 single base substitution T C intron_variant LIRI-JP 2 110001657 110001657 single base substitution A G intron_variant LIRI-JP 2 110002549 110002549 insertion of <=200bp - T intron_variant LIRI-JP 2 110006242 110006242 single base substitution G A intron_variant LIRI-JP 2 110006361 110006361 single base substitution G A intron_variant LIRI-JP 2 110007650 110007650 single base substitution C A intron_variant LIRI-JP 2 110013547 110013547 single base substitution G A intron_variant LIRI-JP 2 110017121 110017121 single base substitution T C intron_variant LIRI-JP 2 110017723 110017723 single base substitution T G intron_variant LIRI-JP 2 110018661 110018661 single base substitution T C intron_variant LIRI-JP 2 110019256 110019256 single base substitution C T intron_variant LIRI-JP 2 110020581 110020581 single base substitution G A intron_variant LIRI-JP 2 110021912 110021912 single base substitution G A intron_variant LIRI-JP 2 110022627 110022627 single base substitution C T intron_variant LIRI-JP 2 110023448 110023448 single base substitution G A intron_variant LIRI-JP 2 110024046 110024046 single base substitution C T intron_variant LIRI-JP 2 110025447 110025447 single base substitution A G intron_variant LIRI-JP 2 110025799 110025799 single base substitution A T intron_variant LIRI-JP 2 110028427 110028427 single base substitution A G intron_variant LIRI-JP 2 110029803 110029803 single base substitution C T intron_variant LIRI-JP 2 110032111 110032111 single base substitution T G intron_variant LIRI-JP 2 110034875 110034875 single base substitution G T intron_variant LIRI-JP 2 110035328 110035328 single base substitution T A intron_variant LIRI-JP 2 110036391 110036391 single base substitution G C intron_variant LIRI-JP 2 110036527 110036527 single base substitution C A intron_variant LIRI-JP 2 110037826 110037826 single base substitution C T intron_variant LIRI-JP 2 110038404 110038404 single base substitution C T intron_variant LIRI-JP 2 110042169 110042169 single base substitution T C intron_variant LIRI-JP 2 110045059 110045059 single base substitution G A intron_variant LIRI-JP 2 110047059 110047073 deletion of <=200bp CACAATACACAGGTA - intron_variant LIRI-JP 2 110047933 110047933 single base substitution T C intron_variant LIRI-JP 2 110053479 110053479 single base substitution G A missense_variant A569T 1705G>A LIRI-JP 2 110055507 110055507 single base substitution C A intron_variant LIRI-JP 2 110055688 110055688 single base substitution A G intron_variant LIRI-JP 2 110056541 110056541 single base substitution T C intron_variant LIRI-JP 2 110059849 110059849 single base substitution C T intron_variant LIRI-JP 2 110060027 110060027 single base substitution T A intron_variant LIRI-JP 2 110061244 110061244 single base substitution A G intron_variant LIRI-JP 2 110064436 110064436 single base substitution G A intron_variant LIRI-JP 2 110067835 110067835 single base substitution C A downstream_gene_variant LIRI-JP 2 110067835 110067835 single base substitution C A intron_variant LIRI-JP 2 110067948 110067948 single base substitution A G downstream_gene_variant LIRI-JP 2 110067948 110067948 single base substitution A G intron_variant LIRI-JP 2 110068283 110068283 single base substitution G T downstream_gene_variant LIRI-JP 2 110068283 110068283 single base substitution G T intron_variant LIRI-JP 2 110070005 110070005 single base substitution G A downstream_gene_variant LIRI-JP 2 110070005 110070005 single base substitution G A intron_variant LIRI-JP 2 110070965 110070965 single base substitution C A intron_variant LIRI-JP 2 110072497 110072497 single base substitution T A intron_variant LIRI-JP 2 110074986 110074986 single base substitution G A intron_variant LIRI-JP 2 110080026 110080026 single base substitution A T intron_variant LIRI-JP 2 110084308 110084308 single base substitution C G intron_variant LIRI-JP 2 110084400 110084400 single base substitution C T intron_variant LIRI-JP 2 110085076 110085076 single base substitution G A intron_variant LIRI-JP 2 110085966 110085966 single base substitution C A intron_variant LIRI-JP 2 110086323 110086323 single base substitution T C intron_variant LIRI-JP 2 110087326 110087326 single base substitution C T intron_variant LIRI-JP 2 110088122 110088122 single base substitution G C intron_variant LIRI-JP 2 110091906 110091906 single base substitution C T intron_variant LIRI-JP 2 110092324 110092324 deletion of <=200bp A - intron_variant LIRI-JP 2 110095264 110095264 single base substitution G T intron_variant LIRI-JP 2 110095525 110095525 single base substitution A G intron_variant LIRI-JP 2 110095601 110095601 single base substitution C T intron_variant LIRI-JP 2 110098928 110098928 single base substitution A G intron_variant LIRI-JP 2 110099198 110099198 single base substitution C A intron_variant LIRI-JP 2 110099729 110099729 single base substitution G A intron_variant LIRI-JP 2 110100883 110100883 single base substitution C A intron_variant LIRI-JP 2 110101153 110101153 single base substitution T A intron_variant LIRI-JP 2 110101211 110101211 single base substitution C A intron_variant LIRI-JP 2 110102512 110102512 single base substitution T C intron_variant LIRI-JP 2 110102541 110102541 single base substitution G C intron_variant LIRI-JP 2 110104542 110104542 single base substitution G A intron_variant LIRI-JP 2 110105071 110105071 single base substitution C T intron_variant LIRI-JP 2 110106066 110106066 single base substitution C T intron_variant LIRI-JP 2 110108935 110108935 single base substitution T C intron_variant LIRI-JP 2 110252625 110252625 single base substitution T C intron_variant LIRI-JP 2 110253260 110253260 single base substitution G T intron_variant LIRI-JP 2 110253470 110253470 single base substitution A G intron_variant LIRI-JP 2 110258612 110258612 single base substitution A G intron_variant LIRI-JP 2 110258612 110258612 single base substitution A G upstream_gene_variant LIRI-JP 2 110259229 110259229 single base substitution G A missense_variant S50N 149G>A LIRI-JP 2 110259229 110259229 single base substitution G A missense_variant S877N 2630G>A LIRI-JP 2 110261328 110261328 single base substitution G T 3_prime_UTR_variant LIRI-JP 2 110261328 110261328 single base substitution G T downstream_gene_variant LIRI-JP 2 110261539 110261539 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 110261539 110261539 single base substitution G A downstream_gene_variant LIRI-JP 2 110261552 110261552 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 110261552 110261552 single base substitution T C downstream_gene_variant LIRI-JP 2 110261686 110261686 single base substitution T A 3_prime_UTR_variant LIRI-JP 2 110261686 110261686 single base substitution T A downstream_gene_variant LIRI-JP 2 110261713 110261713 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 110261713 110261713 single base substitution G A downstream_gene_variant LIRI-JP 2 110263140 110263140 single base substitution C T downstream_gene_variant LIRI-JP 2 110264045 110264046 deletion of <=200bp GA - downstream_gene_variant LIRI-JP 2 110264098 110264098 single base substitution G A downstream_gene_variant LUSC-KR 2 109743086 109743086 single base substitution G T upstream_gene_variant LUSC-KR 2 109746388 109746388 single base substitution C A missense_variant P131H 392C>A LUSC-KR 2 109753691 109753691 single base substitution C A intron_variant LUSC-KR 2 109754579 109754579 single base substitution C G intron_variant LUSC-KR 2 109754718 109754718 single base substitution C A intron_variant LUSC-KR 2 109758143 109758143 single base substitution G T intron_variant LUSC-KR 2 109759079 109759079 single base substitution G T intron_variant LUSC-KR 2 109761840 109761840 single base substitution C G intron_variant LUSC-KR 2 109763617 109763617 single base substitution C T intron_variant LUSC-KR 2 109774513 109774513 single base substitution T A intron_variant LUSC-KR 2 109775046 109775046 single base substitution G C intron_variant LUSC-KR 2 109775859 109775859 single base substitution C A intron_variant LUSC-KR 2 109779003 109779003 single base substitution G A intron_variant LUSC-KR 2 109787709 109787709 single base substitution G T intron_variant LUSC-KR 2 109792163 109792163 single base substitution T C intron_variant LUSC-KR 2 109793182 109793182 single base substitution G T intron_variant LUSC-KR 2 109801047 109801047 single base substitution T C intron_variant LUSC-KR 2 109803229 109803229 single base substitution G C intron_variant LUSC-KR 2 109804858 109804858 single base substitution G T intron_variant LUSC-KR 2 109807792 109807792 single base substitution A T intron_variant LUSC-KR 2 109809714 109809714 single base substitution C A intron_variant LUSC-KR 2 109810094 109810094 single base substitution C G intron_variant LUSC-KR 2 109810557 109810557 single base substitution G T intron_variant LUSC-KR 2 109812341 109812341 single base substitution C G intron_variant LUSC-KR 2 109813313 109813313 single base substitution G T intron_variant LUSC-KR 2 109815427 109815427 single base substitution A T intron_variant LUSC-KR 2 109817038 109817038 single base substitution G A intron_variant LUSC-KR 2 109817825 109817825 single base substitution C G intron_variant LUSC-KR 2 109825806 109825806 single base substitution G T intron_variant LUSC-KR 2 109827860 109827860 single base substitution A T intron_variant LUSC-KR 2 109829682 109829682 single base substitution C T intron_variant LUSC-KR 2 109832466 109832466 single base substitution A G intron_variant LUSC-KR 2 109835062 109835062 single base substitution C A intron_variant LUSC-KR 2 109835115 109835115 single base substitution G T intron_variant LUSC-KR 2 109849866 109849866 single base substitution C T intron_variant LUSC-KR 2 109857684 109857684 single base substitution C G intron_variant LUSC-KR 2 109862639 109862639 single base substitution C G intron_variant LUSC-KR 2 109863924 109863924 single base substitution T A intron_variant LUSC-KR 2 109865338 109865338 single base substitution G T intron_variant LUSC-KR 2 109865992 109865992 single base substitution C T intron_variant LUSC-KR 2 109865996 109865996 single base substitution C T intron_variant LUSC-KR 2 109868307 109868307 single base substitution T C intron_variant LUSC-KR 2 109868945 109868945 single base substitution T C intron_variant LUSC-KR 2 109871921 109871921 single base substitution G T intron_variant LUSC-KR 2 109884627 109884627 single base substitution A T intron_variant LUSC-KR 2 109888338 109888338 single base substitution G T intron_variant LUSC-KR 2 109888339 109888339 single base substitution G T intron_variant LUSC-KR 2 109895067 109895067 single base substitution A G intron_variant LUSC-KR 2 109901708 109901708 single base substitution G T intron_variant LUSC-KR 2 109901909 109901909 single base substitution C T intron_variant LUSC-KR 2 109905390 109905390 single base substitution C T intron_variant LUSC-KR 2 109909033 109909033 single base substitution C A intron_variant LUSC-KR 2 109909102 109909102 single base substitution C G intron_variant LUSC-KR 2 109910294 109910294 single base substitution G T intron_variant LUSC-KR 2 109914032 109914032 single base substitution G T intron_variant LUSC-KR 2 109915482 109915482 single base substitution C G intron_variant LUSC-KR 2 109916060 109916060 single base substitution C A intron_variant LUSC-KR 2 109916303 109916303 single base substitution C T intron_variant LUSC-KR 2 109917630 109917630 single base substitution C A intron_variant LUSC-KR 2 109919236 109919236 single base substitution G A intron_variant LUSC-KR 2 109919583 109919583 single base substitution C T intron_variant LUSC-KR 2 109925365 109925365 single base substitution C T intron_variant LUSC-KR 2 109925548 109925548 single base substitution T A intron_variant LUSC-KR 2 109927076 109927076 single base substitution G A intron_variant LUSC-KR 2 109927340 109927340 single base substitution T C intron_variant LUSC-KR 2 109927358 109927358 single base substitution C A intron_variant LUSC-KR 2 109927363 109927363 single base substitution A G intron_variant LUSC-KR 2 109928714 109928714 single base substitution G A intron_variant LUSC-KR 2 109932686 109932686 single base substitution C T intron_variant LUSC-KR 2 109933944 109933944 single base substitution C A intron_variant LUSC-KR 2 109938650 109938650 single base substitution A G intron_variant LUSC-KR 2 109939837 109939837 single base substitution A G intron_variant LUSC-KR 2 109941182 109941182 single base substitution G A intron_variant LUSC-KR 2 109941791 109941791 single base substitution T C intron_variant LUSC-KR 2 109948901 109948901 single base substitution C T intron_variant LUSC-KR 2 109953503 109953503 single base substitution T G intron_variant LUSC-KR 2 109955946 109955946 single base substitution C A intron_variant LUSC-KR 2 109956072 109956072 single base substitution G A intron_variant LUSC-KR 2 109956331 109956331 single base substitution A G intron_variant LUSC-KR 2 109963208 109963208 single base substitution G T intron_variant LUSC-KR 2 109963278 109963278 single base substitution C A intron_variant LUSC-KR 2 109969745 109969745 single base substitution G T intron_variant LUSC-KR 2 109970774 109970774 single base substitution G A intron_variant LUSC-KR 2 109972724 109972724 single base substitution C A intron_variant LUSC-KR 2 109973053 109973053 single base substitution G T intron_variant LUSC-KR 2 109978003 109978003 single base substitution C G intron_variant LUSC-KR 2 109978119 109978119 single base substitution A T intron_variant LUSC-KR 2 109978524 109978524 single base substitution C G intron_variant LUSC-KR 2 109978542 109978542 single base substitution C G intron_variant LUSC-KR 2 109978874 109978874 single base substitution C A intron_variant LUSC-KR 2 109979308 109979308 single base substitution C T intron_variant LUSC-KR 2 109979539 109979539 single base substitution C G intron_variant LUSC-KR 2 109980121 109980121 single base substitution C T intron_variant LUSC-KR 2 109980162 109980162 single base substitution C T intron_variant LUSC-KR 2 109980794 109980794 single base substitution C G intron_variant LUSC-KR 2 109980812 109980812 single base substitution C G intron_variant LUSC-KR 2 109989009 109989009 single base substitution T C intron_variant LUSC-KR 2 109990150 109990150 single base substitution G A intron_variant LUSC-KR 2 109992114 109992114 single base substitution G T intron_variant LUSC-KR 2 109997721 109997721 single base substitution G C intron_variant LUSC-KR 2 110000392 110000392 single base substitution T A intron_variant LUSC-KR 2 110010995 110010995 single base substitution C A intron_variant LUSC-KR 2 110013061 110013061 single base substitution A G intron_variant LUSC-KR 2 110015116 110015116 single base substitution C T missense_variant A339V 1016C>T LUSC-KR 2 110018556 110018556 single base substitution T A intron_variant LUSC-KR 2 110018683 110018683 single base substitution G T intron_variant LUSC-KR 2 110020947 110020947 single base substitution G T intron_variant LUSC-KR 2 110022700 110022700 single base substitution C A intron_variant LUSC-KR 2 110023093 110023093 single base substitution G A intron_variant LUSC-KR 2 110028703 110028703 single base substitution C T intron_variant LUSC-KR 2 110031650 110031650 single base substitution A T intron_variant LUSC-KR 2 110039331 110039331 single base substitution G T intron_variant LUSC-KR 2 110044429 110044429 single base substitution T A intron_variant LUSC-KR 2 110045732 110045732 single base substitution A G intron_variant LUSC-KR 2 110046298 110046298 single base substitution G A intron_variant LUSC-KR 2 110046444 110046444 single base substitution A C intron_variant LUSC-KR 2 110048887 110048887 single base substitution C G intron_variant LUSC-KR 2 110048939 110048939 single base substitution C T intron_variant LUSC-KR 2 110053570 110053570 single base substitution C T missense_variant T599M 1796C>T LUSC-KR 2 110056717 110056717 single base substitution G A intron_variant LUSC-KR 2 110064369 110064369 single base substitution G T intron_variant LUSC-KR 2 110064768 110064768 single base substitution G C intron_variant LUSC-KR 2 110067532 110067532 single base substitution C A downstream_gene_variant LUSC-KR 2 110067532 110067532 single base substitution C A intron_variant LUSC-KR 2 110069146 110069146 single base substitution A G downstream_gene_variant LUSC-KR 2 110069146 110069146 single base substitution A G intron_variant LUSC-KR 2 110070714 110070714 single base substitution A G downstream_gene_variant LUSC-KR 2 110070714 110070714 single base substitution A G intron_variant LUSC-KR 2 110074313 110074313 single base substitution G C intron_variant LUSC-KR 2 110074942 110074942 single base substitution C A intron_variant LUSC-KR 2 110077861 110077861 single base substitution A G intron_variant LUSC-KR 2 110077900 110077900 single base substitution C T intron_variant LUSC-KR 2 110078093 110078093 single base substitution G A intron_variant LUSC-KR 2 110084319 110084319 single base substitution A C intron_variant LUSC-KR 2 110087370 110087370 single base substitution G T intron_variant LUSC-KR 2 110090253 110090253 single base substitution C A intron_variant LUSC-KR 2 110096054 110096054 single base substitution C T intron_variant LUSC-KR 2 110096494 110096494 single base substitution G T intron_variant LUSC-KR 2 110099368 110099368 single base substitution C G intron_variant LUSC-KR 2 110101024 110101024 single base substitution T A intron_variant LUSC-KR 2 110108131 110108131 single base substitution C G intron_variant LUSC-KR 2 110108587 110108587 single base substitution G A intron_variant LUSC-KR 2 110254775 110254775 single base substitution G A intron_variant LUSC-KR 2 110254775 110254775 single base substitution G A upstream_gene_variant LUSC-KR 2 110260113 110260113 single base substitution G A 3_prime_UTR_variant LUSC-KR 2 110260113 110260113 single base substitution G A downstream_gene_variant LUSC-KR 2 110261029 110261029 single base substitution A G 3_prime_UTR_variant LUSC-KR 2 110261029 110261029 single base substitution A G downstream_gene_variant LUSC-KR 2 110263070 110263070 single base substitution A G downstream_gene_variant LUSC-US 2 110015230 110015230 single base substitution A T missense_variant K377M 1130A>T LUSC-US 2 110049062 110049062 single base substitution G C missense_variant K503N 1509G>C MALY-DE 2 109742218 109742218 single base substitution C T upstream_gene_variant MALY-DE 2 109747732 109747732 single base substitution A G intron_variant MALY-DE 2 109748389 109748389 single base substitution C G intron_variant MALY-DE 2 109749325 109749325 single base substitution G T intron_variant MALY-DE 2 109750617 109750617 single base substitution T C intron_variant MALY-DE 2 109752683 109752683 deletion of <=200bp A - intron_variant MALY-DE 2 109753405 109753405 single base substitution A G intron_variant MALY-DE 2 109755378 109755378 single base substitution C A intron_variant MALY-DE 2 109756666 109756666 single base substitution A C intron_variant MALY-DE 2 109764873 109764873 single base substitution T C intron_variant MALY-DE 2 109766930 109766930 insertion of <=200bp - T intron_variant MALY-DE 2 109769069 109769069 single base substitution C G intron_variant MALY-DE 2 109770987 109770987 single base substitution G T intron_variant MALY-DE 2 109776469 109776469 single base substitution C T intron_variant MALY-DE 2 109782761 109782761 single base substitution C A intron_variant MALY-DE 2 109786695 109786695 single base substitution T C intron_variant MALY-DE 2 109790292 109790292 single base substitution C T intron_variant MALY-DE 2 109795553 109795553 single base substitution T G intron_variant MALY-DE 2 109802251 109802251 single base substitution C T intron_variant MALY-DE 2 109805106 109805106 single base substitution G A intron_variant MALY-DE 2 109806274 109806274 single base substitution C T intron_variant MALY-DE 2 109810686 109810686 single base substitution T G intron_variant MALY-DE 2 109817517 109817517 single base substitution T G intron_variant MALY-DE 2 109819150 109819150 single base substitution C A intron_variant MALY-DE 2 109819202 109819202 single base substitution C T intron_variant MALY-DE 2 109820415 109820415 single base substitution C T intron_variant MALY-DE 2 109823714 109823714 single base substitution T G intron_variant MALY-DE 2 109827519 109827519 single base substitution G T intron_variant MALY-DE 2 109827621 109827621 single base substitution T A intron_variant MALY-DE 2 109828516 109828516 single base substitution G A intron_variant MALY-DE 2 109830292 109830292 single base substitution T C intron_variant MALY-DE 2 109838756 109838756 single base substitution A G intron_variant MALY-DE 2 109845889 109845889 single base substitution C T intron_variant MALY-DE 2 109846652 109846652 single base substitution A G intron_variant MALY-DE 2 109848075 109848075 single base substitution C T intron_variant MALY-DE 2 109851966 109851966 single base substitution G A intron_variant MALY-DE 2 109852206 109852206 single base substitution A C intron_variant MALY-DE 2 109853594 109853594 single base substitution C T intron_variant MALY-DE 2 109857911 109857911 insertion of <=200bp - T intron_variant MALY-DE 2 109861825 109861825 single base substitution A T intron_variant MALY-DE 2 109876116 109876116 single base substitution G C intron_variant MALY-DE 2 109876371 109876371 single base substitution G A intron_variant MALY-DE 2 109888379 109888379 single base substitution G A intron_variant MALY-DE 2 109890142 109890142 single base substitution G A intron_variant MALY-DE 2 109893335 109893335 deletion of <=200bp A - intron_variant MALY-DE 2 109905401 109905401 single base substitution A C intron_variant MALY-DE 2 109907601 109907601 single base substitution T C intron_variant MALY-DE 2 109911447 109911447 deletion of <=200bp G - intron_variant MALY-DE 2 109930147 109930150 deletion of <=200bp GAGA - intron_variant MALY-DE 2 109934462 109934462 single base substitution G A intron_variant MALY-DE 2 109935301 109935301 single base substitution A T intron_variant MALY-DE 2 109935951 109935951 single base substitution G A intron_variant MALY-DE 2 109948672 109948672 single base substitution C G intron_variant MALY-DE 2 109951638 109951638 single base substitution C T intron_variant MALY-DE 2 109957614 109957614 single base substitution A T intron_variant MALY-DE 2 109957794 109957794 single base substitution C A intron_variant MALY-DE 2 109962639 109962639 deletion of <=200bp T - intron_variant MALY-DE 2 109962654 109962654 single base substitution C T intron_variant MALY-DE 2 109963249 109963249 single base substitution C A intron_variant MALY-DE 2 109964229 109964229 single base substitution C T missense_variant R225C 673C>T MALY-DE 2 109965425 109965425 single base substitution T C intron_variant MALY-DE 2 109965476 109965477 deletion of <=200bp TC - intron_variant MALY-DE 2 109965526 109965526 single base substitution A G intron_variant MALY-DE 2 109967172 109967172 single base substitution C T intron_variant MALY-DE 2 109969243 109969243 single base substitution G A intron_variant MALY-DE 2 109970556 109970556 single base substitution A G intron_variant MALY-DE 2 109970678 109970678 single base substitution G C intron_variant MALY-DE 2 109970717 109970717 single base substitution A G intron_variant MALY-DE 2 109974585 109974585 single base substitution C T intron_variant MALY-DE 2 109975294 109975294 single base substitution A G intron_variant MALY-DE 2 109976218 109976218 single base substitution T C intron_variant MALY-DE 2 109978472 109978472 single base substitution T A intron_variant MALY-DE 2 109987088 109987088 single base substitution G T intron_variant MALY-DE 2 109990610 109990610 single base substitution C A intron_variant MALY-DE 2 109996490 109996490 single base substitution T C intron_variant MALY-DE 2 110003354 110003354 single base substitution C T intron_variant MALY-DE 2 110004463 110004463 single base substitution C T intron_variant MALY-DE 2 110006385 110006385 single base substitution C T intron_variant MALY-DE 2 110009564 110009564 single base substitution G A intron_variant MALY-DE 2 110009738 110009738 single base substitution T C intron_variant MALY-DE 2 110010483 110010483 single base substitution C T intron_variant MALY-DE 2 110016912 110016912 single base substitution C G intron_variant MALY-DE 2 110017032 110017033 deletion of <=200bp CA - intron_variant MALY-DE 2 110019153 110019153 single base substitution G A intron_variant MALY-DE 2 110022550 110022550 single base substitution G A intron_variant MALY-DE 2 110027691 110027691 single base substitution C T intron_variant MALY-DE 2 110029053 110029053 single base substitution G T intron_variant MALY-DE 2 110033898 110033898 single base substitution C T intron_variant MALY-DE 2 110040460 110040460 single base substitution G T intron_variant MALY-DE 2 110043391 110043391 single base substitution G A intron_variant MALY-DE 2 110043546 110043546 single base substitution T G intron_variant MALY-DE 2 110045979 110045979 single base substitution G A intron_variant MALY-DE 2 110050898 110050898 single base substitution C T intron_variant MALY-DE 2 110055688 110055688 single base substitution A G intron_variant MALY-DE 2 110055765 110055765 single base substitution T G intron_variant MALY-DE 2 110063302 110063302 single base substitution G A intron_variant MALY-DE 2 110064113 110064113 single base substitution T C intron_variant MALY-DE 2 110064372 110064372 single base substitution A G intron_variant MALY-DE 2 110070986 110070986 single base substitution G A intron_variant MALY-DE 2 110071239 110071239 single base substitution A C intron_variant MALY-DE 2 110072721 110072721 single base substitution G A intron_variant MALY-DE 2 110075029 110075030 deletion of <=200bp AG - intron_variant MALY-DE 2 110076110 110076110 single base substitution G A intron_variant MALY-DE 2 110085484 110085484 single base substitution G A intron_variant MALY-DE 2 110091673 110091673 single base substitution T C intron_variant MALY-DE 2 110092255 110092255 single base substitution G A intron_variant MALY-DE 2 110092675 110092675 single base substitution C A intron_variant MALY-DE 2 110094070 110094071 deletion of <=200bp GT - intron_variant MALY-DE 2 110097301 110097301 single base substitution T G intron_variant MALY-DE 2 110102725 110102725 single base substitution C A intron_variant MALY-DE 2 110104404 110104404 single base substitution G C intron_variant MALY-DE 2 110259958 110259959 deletion of <=200bp AT - 3_prime_UTR_variant MALY-DE 2 110259958 110259959 deletion of <=200bp AT - downstream_gene_variant MELA-AU 2 109740849 109740849 single base substitution C T upstream_gene_variant MELA-AU 2 109740899 109740899 single base substitution G A upstream_gene_variant MELA-AU 2 109741752 109741752 single base substitution G A upstream_gene_variant MELA-AU 2 109741888 109741888 single base substitution C T upstream_gene_variant MELA-AU 2 109742080 109742080 single base substitution C T upstream_gene_variant MELA-AU 2 109742117 109742117 single base substitution C T upstream_gene_variant MELA-AU 2 109742742 109742742 single base substitution G A upstream_gene_variant MELA-AU 2 109743370 109743370 single base substitution C T upstream_gene_variant MELA-AU 2 109744419 109744419 single base substitution C T upstream_gene_variant MELA-AU 2 109744485 109744485 deletion of <=200bp C - upstream_gene_variant MELA-AU 2 109744880 109744880 single base substitution G A upstream_gene_variant MELA-AU 2 109745219 109745219 single base substitution G A upstream_gene_variant MELA-AU 2 109745470 109745470 single base substitution C T upstream_gene_variant MELA-AU 2 109745480 109745480 single base substitution C T upstream_gene_variant MELA-AU 2 109746060 109746060 single base substitution G C missense_variant G22R 64G>C MELA-AU 2 109746377 109746377 single base substitution G A synonymous_variant A127A 381G>A MELA-AU 2 109746667 109746667 single base substitution G A intron_variant MELA-AU 2 109747364 109747364 single base substitution T A intron_variant MELA-AU 2 109747434 109747434 single base substitution A G intron_variant MELA-AU 2 109747797 109747797 single base substitution C T intron_variant MELA-AU 2 109747858 109747858 single base substitution C T intron_variant MELA-AU 2 109748294 109748294 single base substitution G A intron_variant MELA-AU 2 109749370 109749370 single base substitution G A intron_variant MELA-AU 2 109750041 109750041 single base substitution G A intron_variant MELA-AU 2 109750169 109750169 single base substitution C T intron_variant MELA-AU 2 109750521 109750522 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 109751604 109751604 single base substitution C T intron_variant MELA-AU 2 109751761 109751761 single base substitution C T intron_variant MELA-AU 2 109751878 109751878 single base substitution G C intron_variant MELA-AU 2 109751970 109751970 single base substitution G A intron_variant MELA-AU 2 109752577 109752577 single base substitution A G intron_variant MELA-AU 2 109752720 109752720 single base substitution G A intron_variant MELA-AU 2 109752921 109752921 single base substitution C T intron_variant MELA-AU 2 109753339 109753339 single base substitution G A intron_variant MELA-AU 2 109753503 109753503 single base substitution G A intron_variant MELA-AU 2 109753636 109753636 single base substitution G A intron_variant MELA-AU 2 109753716 109753716 single base substitution A G intron_variant MELA-AU 2 109754837 109754837 single base substitution T G intron_variant MELA-AU 2 109755180 109755180 single base substitution G A intron_variant MELA-AU 2 109755890 109755890 single base substitution C G intron_variant MELA-AU 2 109755934 109755934 single base substitution C T intron_variant MELA-AU 2 109756715 109756715 single base substitution G C intron_variant MELA-AU 2 109757064 109757064 single base substitution C T intron_variant MELA-AU 2 109757191 109757191 single base substitution G A intron_variant MELA-AU 2 109757268 109757268 single base substitution C T intron_variant MELA-AU 2 109757339 109757339 single base substitution C T intron_variant MELA-AU 2 109757551 109757551 single base substitution T G intron_variant MELA-AU 2 109757661 109757661 single base substitution C T intron_variant MELA-AU 2 109757699 109757699 single base substitution C T intron_variant MELA-AU 2 109758935 109758935 single base substitution C T intron_variant MELA-AU 2 109759116 109759116 single base substitution C T intron_variant MELA-AU 2 109759929 109759929 single base substitution T G intron_variant MELA-AU 2 109761023 109761023 single base substitution A T intron_variant MELA-AU 2 109761061 109761061 single base substitution C T intron_variant MELA-AU 2 109761166 109761166 single base substitution C T intron_variant MELA-AU 2 109761479 109761480 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 109761480 109761480 single base substitution C T intron_variant MELA-AU 2 109761984 109761984 single base substitution G A intron_variant MELA-AU 2 109762458 109762458 single base substitution G A intron_variant MELA-AU 2 109763062 109763062 single base substitution C T intron_variant MELA-AU 2 109763111 109763111 single base substitution G A intron_variant MELA-AU 2 109763170 109763170 single base substitution C T intron_variant MELA-AU 2 109763562 109763562 single base substitution G A intron_variant MELA-AU 2 109763751 109763751 single base substitution C T intron_variant MELA-AU 2 109764209 109764209 single base substitution G A intron_variant MELA-AU 2 109764242 109764242 single base substitution C T intron_variant MELA-AU 2 109764311 109764311 single base substitution C T intron_variant MELA-AU 2 109764535 109764535 single base substitution C T intron_variant MELA-AU 2 109764755 109764755 single base substitution C T intron_variant MELA-AU 2 109764844 109764844 single base substitution C T intron_variant MELA-AU 2 109765264 109765264 single base substitution C T intron_variant MELA-AU 2 109766051 109766051 single base substitution C T intron_variant MELA-AU 2 109766108 109766108 single base substitution C T intron_variant MELA-AU 2 109766225 109766225 single base substitution T A intron_variant MELA-AU 2 109766628 109766628 single base substitution C T intron_variant MELA-AU 2 109766720 109766720 single base substitution C T intron_variant MELA-AU 2 109766753 109766753 single base substitution G A intron_variant MELA-AU 2 109766977 109766977 single base substitution T C intron_variant MELA-AU 2 109767506 109767506 single base substitution G A intron_variant MELA-AU 2 109767792 109767792 single base substitution C T intron_variant MELA-AU 2 109768062 109768062 single base substitution C T intron_variant MELA-AU 2 109768587 109768587 single base substitution G A intron_variant MELA-AU 2 109768896 109768896 single base substitution G A intron_variant MELA-AU 2 109769124 109769124 single base substitution C T intron_variant MELA-AU 2 109769397 109769397 single base substitution C T intron_variant MELA-AU 2 109769452 109769452 single base substitution T C intron_variant MELA-AU 2 109769760 109769760 single base substitution C T intron_variant MELA-AU 2 109769795 109769795 single base substitution C T intron_variant MELA-AU 2 109769799 109769799 single base substitution T G intron_variant MELA-AU 2 109769946 109769946 single base substitution G A intron_variant MELA-AU 2 109770255 109770255 single base substitution C T intron_variant MELA-AU 2 109770610 109770610 single base substitution G A intron_variant MELA-AU 2 109770826 109770826 single base substitution G A intron_variant MELA-AU 2 109770923 109770923 single base substitution C T intron_variant MELA-AU 2 109770999 109770999 single base substitution C T intron_variant MELA-AU 2 109771064 109771065 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 2 109771352 109771352 single base substitution C T intron_variant MELA-AU 2 109771669 109771669 single base substitution C T intron_variant MELA-AU 2 109771720 109771720 single base substitution C T intron_variant MELA-AU 2 109772246 109772246 single base substitution T G intron_variant MELA-AU 2 109772337 109772337 single base substitution T G intron_variant MELA-AU 2 109772610 109772610 single base substitution C T intron_variant MELA-AU 2 109773551 109773551 single base substitution C G intron_variant MELA-AU 2 109773664 109773664 single base substitution C T intron_variant MELA-AU 2 109773747 109773747 single base substitution C T intron_variant MELA-AU 2 109774650 109774650 single base substitution G A intron_variant MELA-AU 2 109775527 109775527 single base substitution C T intron_variant MELA-AU 2 109775608 109775608 single base substitution T C intron_variant MELA-AU 2 109776518 109776518 single base substitution C T intron_variant MELA-AU 2 109777143 109777143 single base substitution C T intron_variant MELA-AU 2 109777376 109777376 single base substitution G A intron_variant MELA-AU 2 109777444 109777444 single base substitution C T intron_variant MELA-AU 2 109777548 109777548 single base substitution C T intron_variant MELA-AU 2 109777576 109777576 single base substitution C T intron_variant MELA-AU 2 109777976 109777976 single base substitution G T intron_variant MELA-AU 2 109778483 109778483 single base substitution C T intron_variant MELA-AU 2 109778930 109778930 single base substitution T C intron_variant MELA-AU 2 109781033 109781033 single base substitution C T intron_variant MELA-AU 2 109781155 109781155 single base substitution C T intron_variant MELA-AU 2 109781259 109781259 single base substitution C T intron_variant MELA-AU 2 109781543 109781543 single base substitution T G intron_variant MELA-AU 2 109781673 109781673 single base substitution C T intron_variant MELA-AU 2 109781780 109781780 single base substitution C T intron_variant MELA-AU 2 109781784 109781784 single base substitution C T intron_variant MELA-AU 2 109782141 109782141 single base substitution C T intron_variant MELA-AU 2 109782411 109782411 single base substitution C T intron_variant MELA-AU 2 109782452 109782452 single base substitution C T intron_variant MELA-AU 2 109782599 109782599 single base substitution C T intron_variant MELA-AU 2 109782730 109782730 single base substitution C T intron_variant MELA-AU 2 109783182 109783182 single base substitution T A intron_variant MELA-AU 2 109783564 109783564 single base substitution C T intron_variant MELA-AU 2 109783982 109783982 single base substitution C T intron_variant MELA-AU 2 109784112 109784112 single base substitution C T intron_variant MELA-AU 2 109784118 109784118 single base substitution C T intron_variant MELA-AU 2 109784951 109784951 single base substitution G A intron_variant MELA-AU 2 109784952 109784952 single base substitution G T intron_variant MELA-AU 2 109785641 109785641 single base substitution T C intron_variant MELA-AU 2 109785802 109785802 single base substitution C T intron_variant MELA-AU 2 109785894 109785894 single base substitution C T intron_variant MELA-AU 2 109786725 109786725 single base substitution C T intron_variant MELA-AU 2 109786742 109786742 single base substitution T C intron_variant MELA-AU 2 109786887 109786887 single base substitution C T intron_variant MELA-AU 2 109787119 109787119 single base substitution C T intron_variant MELA-AU 2 109787440 109787440 single base substitution C T intron_variant MELA-AU 2 109788858 109788858 single base substitution C T intron_variant MELA-AU 2 109789338 109789338 single base substitution C T intron_variant MELA-AU 2 109789642 109789642 single base substitution G A intron_variant MELA-AU 2 109789819 109789819 single base substitution C T intron_variant MELA-AU 2 109790293 109790293 single base substitution C T intron_variant MELA-AU 2 109790537 109790537 single base substitution C G intron_variant MELA-AU 2 109790883 109790883 single base substitution G A intron_variant MELA-AU 2 109791029 109791029 single base substitution C T intron_variant MELA-AU 2 109791090 109791090 single base substitution G A intron_variant MELA-AU 2 109791196 109791196 single base substitution G T intron_variant MELA-AU 2 109791204 109791204 single base substitution G A intron_variant MELA-AU 2 109791698 109791698 single base substitution C T intron_variant MELA-AU 2 109791792 109791792 single base substitution C T intron_variant MELA-AU 2 109791943 109791943 single base substitution C T intron_variant MELA-AU 2 109792369 109792369 single base substitution T C intron_variant MELA-AU 2 109792396 109792396 single base substitution T C intron_variant MELA-AU 2 109792517 109792517 single base substitution C T intron_variant MELA-AU 2 109792687 109792687 single base substitution G T intron_variant MELA-AU 2 109792972 109792972 single base substitution C T intron_variant MELA-AU 2 109793469 109793469 single base substitution T A intron_variant MELA-AU 2 109793729 109793729 single base substitution G A intron_variant MELA-AU 2 109793798 109793798 single base substitution G A intron_variant MELA-AU 2 109793869 109793869 single base substitution G T intron_variant MELA-AU 2 109793944 109793944 single base substitution C T intron_variant MELA-AU 2 109794837 109794837 single base substitution G A intron_variant MELA-AU 2 109795152 109795152 single base substitution C T intron_variant MELA-AU 2 109795440 109795440 single base substitution T G intron_variant MELA-AU 2 109795543 109795543 single base substitution T A intron_variant MELA-AU 2 109795680 109795680 single base substitution C T intron_variant MELA-AU 2 109795879 109795879 single base substitution C T intron_variant MELA-AU 2 109796053 109796053 single base substitution C T intron_variant MELA-AU 2 109796100 109796100 single base substitution G A intron_variant MELA-AU 2 109796162 109796162 single base substitution C T intron_variant MELA-AU 2 109796167 109796167 single base substitution C T intron_variant MELA-AU 2 109797081 109797081 single base substitution G A intron_variant MELA-AU 2 109797100 109797100 single base substitution C T intron_variant MELA-AU 2 109797321 109797321 single base substitution G A intron_variant MELA-AU 2 109797401 109797401 single base substitution C T intron_variant MELA-AU 2 109798129 109798129 single base substitution C T intron_variant MELA-AU 2 109798271 109798271 single base substitution C T intron_variant MELA-AU 2 109798355 109798355 single base substitution C T intron_variant MELA-AU 2 109798451 109798451 single base substitution G A intron_variant MELA-AU 2 109798774 109798774 single base substitution C T intron_variant MELA-AU 2 109798855 109798855 single base substitution C T intron_variant MELA-AU 2 109799017 109799017 single base substitution G A intron_variant MELA-AU 2 109799760 109799760 single base substitution C T intron_variant MELA-AU 2 109799961 109799961 single base substitution C T intron_variant MELA-AU 2 109800081 109800081 single base substitution C T intron_variant MELA-AU 2 109800175 109800175 single base substitution C T intron_variant MELA-AU 2 109800307 109800308 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 109800335 109800335 single base substitution C T intron_variant MELA-AU 2 109800429 109800429 single base substitution C T intron_variant MELA-AU 2 109800619 109800619 single base substitution C T intron_variant MELA-AU 2 109800675 109800675 single base substitution C T intron_variant MELA-AU 2 109800778 109800778 single base substitution C T intron_variant MELA-AU 2 109800985 109800985 single base substitution C T intron_variant MELA-AU 2 109801354 109801354 single base substitution C T intron_variant MELA-AU 2 109801748 109801748 single base substitution C T intron_variant MELA-AU 2 109802150 109802150 single base substitution G A intron_variant MELA-AU 2 109803966 109803966 single base substitution C T intron_variant MELA-AU 2 109804292 109804292 single base substitution C T intron_variant MELA-AU 2 109804622 109804622 single base substitution C T intron_variant MELA-AU 2 109804906 109804906 single base substitution G A intron_variant MELA-AU 2 109804926 109804926 single base substitution C T intron_variant MELA-AU 2 109805251 109805251 single base substitution C T intron_variant MELA-AU 2 109805327 109805327 single base substitution C T intron_variant MELA-AU 2 109805912 109805912 single base substitution C T intron_variant MELA-AU 2 109806339 109806339 single base substitution T C intron_variant MELA-AU 2 109806819 109806819 single base substitution G A intron_variant MELA-AU 2 109806899 109806900 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 109807198 109807198 single base substitution C T intron_variant MELA-AU 2 109807560 109807560 single base substitution G A intron_variant MELA-AU 2 109807798 109807798 single base substitution C T intron_variant MELA-AU 2 109808275 109808275 single base substitution C T intron_variant MELA-AU 2 109808445 109808445 single base substitution C T intron_variant MELA-AU 2 109808618 109808619 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 2 109808640 109808640 single base substitution C T intron_variant MELA-AU 2 109808980 109808980 single base substitution G A intron_variant MELA-AU 2 109810319 109810319 single base substitution T C intron_variant MELA-AU 2 109810384 109810385 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 109810721 109810721 single base substitution G A intron_variant MELA-AU 2 109810758 109810758 single base substitution G T intron_variant MELA-AU 2 109810806 109810806 single base substitution C T intron_variant MELA-AU 2 109810931 109810931 single base substitution G A intron_variant MELA-AU 2 109811209 109811209 single base substitution C T intron_variant MELA-AU 2 109811583 109811583 single base substitution G A intron_variant MELA-AU 2 109811780 109811780 single base substitution G A intron_variant MELA-AU 2 109812017 109812017 single base substitution C T intron_variant MELA-AU 2 109812099 109812099 single base substitution C T intron_variant MELA-AU 2 109812905 109812905 single base substitution C T intron_variant MELA-AU 2 109812940 109812940 single base substitution C T intron_variant MELA-AU 2 109812991 109812991 single base substitution T C intron_variant MELA-AU 2 109813328 109813328 single base substitution G A intron_variant MELA-AU 2 109813334 109813334 single base substitution C T intron_variant MELA-AU 2 109813610 109813610 single base substitution C T intron_variant MELA-AU 2 109813735 109813735 single base substitution G T intron_variant MELA-AU 2 109813993 109813993 single base substitution C T intron_variant MELA-AU 2 109814479 109814479 single base substitution G A intron_variant MELA-AU 2 109814735 109814735 single base substitution G A intron_variant MELA-AU 2 109815083 109815083 single base substitution C T intron_variant MELA-AU 2 109815168 109815168 single base substitution C T intron_variant MELA-AU 2 109815243 109815243 single base substitution T G intron_variant MELA-AU 2 109815362 109815362 single base substitution G A intron_variant MELA-AU 2 109815563 109815563 single base substitution C T intron_variant MELA-AU 2 109815657 109815657 single base substitution T C intron_variant MELA-AU 2 109816899 109816899 single base substitution C T intron_variant MELA-AU 2 109817185 109817185 single base substitution T G intron_variant MELA-AU 2 109818310 109818310 single base substitution G A intron_variant MELA-AU 2 109819628 109819629 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 109819767 109819767 single base substitution G A intron_variant MELA-AU 2 109819807 109819807 single base substitution C T intron_variant MELA-AU 2 109819854 109819854 single base substitution G A intron_variant MELA-AU 2 109820072 109820072 single base substitution G A intron_variant MELA-AU 2 109820086 109820086 single base substitution C T intron_variant MELA-AU 2 109820115 109820115 single base substitution C T intron_variant MELA-AU 2 109820148 109820148 single base substitution C T intron_variant MELA-AU 2 109821964 109821964 single base substitution C T intron_variant MELA-AU 2 109822000 109822000 single base substitution C T intron_variant MELA-AU 2 109822001 109822001 single base substitution G A intron_variant MELA-AU 2 109822265 109822265 single base substitution G A intron_variant MELA-AU 2 109822577 109822577 single base substitution C G intron_variant MELA-AU 2 109822667 109822667 single base substitution C T intron_variant MELA-AU 2 109822771 109822771 single base substitution C T intron_variant MELA-AU 2 109822923 109822923 single base substitution G A intron_variant MELA-AU 2 109824067 109824067 single base substitution G A intron_variant MELA-AU 2 109824219 109824219 single base substitution C T intron_variant MELA-AU 2 109824402 109824402 single base substitution C T intron_variant MELA-AU 2 109824422 109824422 single base substitution T C intron_variant MELA-AU 2 109824453 109824453 single base substitution C T intron_variant MELA-AU 2 109824783 109824783 single base substitution C T intron_variant MELA-AU 2 109824821 109824821 single base substitution C T intron_variant MELA-AU 2 109825018 109825018 single base substitution C T intron_variant MELA-AU 2 109825455 109825455 single base substitution C T intron_variant MELA-AU 2 109825472 109825472 single base substitution C T intron_variant MELA-AU 2 109825819 109825819 single base substitution C T intron_variant MELA-AU 2 109826034 109826034 single base substitution C T intron_variant MELA-AU 2 109826177 109826177 single base substitution G A intron_variant MELA-AU 2 109826254 109826254 single base substitution T C intron_variant MELA-AU 2 109826422 109826422 single base substitution G A intron_variant MELA-AU 2 109827032 109827032 single base substitution G A intron_variant MELA-AU 2 109827163 109827163 single base substitution C T intron_variant MELA-AU 2 109828210 109828210 single base substitution C T intron_variant MELA-AU 2 109828403 109828403 single base substitution C T intron_variant MELA-AU 2 109828541 109828541 single base substitution G A intron_variant MELA-AU 2 109829025 109829025 single base substitution T A intron_variant MELA-AU 2 109829379 109829379 single base substitution G A intron_variant MELA-AU 2 109829530 109829530 single base substitution G A intron_variant MELA-AU 2 109829562 109829562 single base substitution C T intron_variant MELA-AU 2 109829624 109829624 single base substitution G A intron_variant MELA-AU 2 109829790 109829791 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 109829911 109829911 single base substitution C T intron_variant MELA-AU 2 109829953 109829953 single base substitution G A intron_variant MELA-AU 2 109829993 109829993 single base substitution C T intron_variant MELA-AU 2 109830287 109830287 single base substitution C T intron_variant MELA-AU 2 109830297 109830297 single base substitution G A intron_variant MELA-AU 2 109830311 109830311 single base substitution C T intron_variant MELA-AU 2 109831464 109831464 single base substitution C T intron_variant MELA-AU 2 109831512 109831512 single base substitution C T intron_variant MELA-AU 2 109831717 109831718 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 109832006 109832007 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 109832069 109832069 single base substitution C T intron_variant MELA-AU 2 109832271 109832271 single base substitution T C intron_variant MELA-AU 2 109832367 109832367 single base substitution G A intron_variant MELA-AU 2 109832560 109832560 single base substitution G A intron_variant MELA-AU 2 109832695 109832695 single base substitution G A intron_variant MELA-AU 2 109832931 109832931 single base substitution C T intron_variant MELA-AU 2 109832935 109832935 single base substitution G A intron_variant MELA-AU 2 109833364 109833364 single base substitution C T intron_variant MELA-AU 2 109833406 109833406 single base substitution C G intron_variant MELA-AU 2 109833474 109833474 single base substitution G A intron_variant MELA-AU 2 109833842 109833842 single base substitution C T intron_variant MELA-AU 2 109834209 109834209 single base substitution C T intron_variant MELA-AU 2 109835032 109835032 single base substitution C T intron_variant MELA-AU 2 109835096 109835096 single base substitution G T intron_variant MELA-AU 2 109835863 109835863 single base substitution G A intron_variant MELA-AU 2 109836409 109836409 single base substitution G A intron_variant MELA-AU 2 109836546 109836546 single base substitution G A intron_variant MELA-AU 2 109837084 109837084 single base substitution C T intron_variant MELA-AU 2 109837370 109837370 single base substitution C T intron_variant MELA-AU 2 109837472 109837472 single base substitution G A intron_variant MELA-AU 2 109837655 109837657 multiple base substitution (>=2bp and <=200bp) TCC ATT intron_variant MELA-AU 2 109837754 109837754 single base substitution C T intron_variant MELA-AU 2 109837801 109837801 single base substitution G A intron_variant MELA-AU 2 109838070 109838070 single base substitution C T intron_variant MELA-AU 2 109838429 109838429 single base substitution G A intron_variant MELA-AU 2 109838438 109838438 single base substitution A T intron_variant MELA-AU 2 109838650 109838650 single base substitution G A intron_variant MELA-AU 2 109839268 109839268 single base substitution G A intron_variant MELA-AU 2 109839412 109839412 single base substitution C T intron_variant MELA-AU 2 109839610 109839610 single base substitution C T intron_variant MELA-AU 2 109840136 109840136 single base substitution C T intron_variant MELA-AU 2 109840158 109840158 single base substitution C T intron_variant MELA-AU 2 109840903 109840903 single base substitution T G intron_variant MELA-AU 2 109840928 109840928 single base substitution C T intron_variant MELA-AU 2 109841467 109841467 single base substitution G A intron_variant MELA-AU 2 109842285 109842285 single base substitution G A intron_variant MELA-AU 2 109842854 109842854 single base substitution G A intron_variant MELA-AU 2 109843016 109843017 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 109843474 109843474 single base substitution C T intron_variant MELA-AU 2 109843560 109843560 single base substitution G A intron_variant MELA-AU 2 109844007 109844007 single base substitution C T intron_variant MELA-AU 2 109845281 109845281 single base substitution C T intron_variant MELA-AU 2 109845537 109845537 single base substitution C T intron_variant MELA-AU 2 109845845 109845845 single base substitution C T intron_variant MELA-AU 2 109845987 109845987 single base substitution G A intron_variant MELA-AU 2 109846056 109846056 single base substitution A G intron_variant MELA-AU 2 109846257 109846257 single base substitution G A intron_variant MELA-AU 2 109846646 109846646 single base substitution C T intron_variant MELA-AU 2 109846752 109846752 single base substitution C T intron_variant MELA-AU 2 109846817 109846817 single base substitution G A intron_variant MELA-AU 2 109847767 109847767 single base substitution G A intron_variant MELA-AU 2 109847975 109847975 single base substitution C T intron_variant MELA-AU 2 109848354 109848354 single base substitution C T intron_variant MELA-AU 2 109849622 109849622 single base substitution G A intron_variant MELA-AU 2 109849805 109849805 single base substitution C T intron_variant MELA-AU 2 109849886 109849886 single base substitution C T intron_variant MELA-AU 2 109850016 109850016 single base substitution G A intron_variant MELA-AU 2 109850102 109850102 single base substitution C T intron_variant MELA-AU 2 109850182 109850182 single base substitution C T intron_variant MELA-AU 2 109850385 109850385 single base substitution C A intron_variant MELA-AU 2 109850506 109850506 single base substitution C T intron_variant MELA-AU 2 109851361 109851361 single base substitution C T intron_variant MELA-AU 2 109851515 109851515 single base substitution C T intron_variant MELA-AU 2 109851635 109851635 single base substitution G A intron_variant MELA-AU 2 109851637 109851637 single base substitution G A intron_variant MELA-AU 2 109852313 109852313 single base substitution C T intron_variant MELA-AU 2 109852320 109852320 single base substitution C T intron_variant MELA-AU 2 109852590 109852590 single base substitution T C intron_variant MELA-AU 2 109852618 109852618 single base substitution T G intron_variant MELA-AU 2 109853080 109853080 single base substitution T C intron_variant MELA-AU 2 109853406 109853406 single base substitution C T intron_variant MELA-AU 2 109853509 109853509 single base substitution C T intron_variant MELA-AU 2 109853514 109853514 single base substitution C T intron_variant MELA-AU 2 109853937 109853937 single base substitution G A intron_variant MELA-AU 2 109854161 109854163 deletion of <=200bp GGA - intron_variant MELA-AU 2 109854220 109854220 single base substitution C T intron_variant MELA-AU 2 109855450 109855450 single base substitution G A intron_variant MELA-AU 2 109855504 109855504 single base substitution C T intron_variant MELA-AU 2 109855633 109855633 single base substitution C T intron_variant MELA-AU 2 109855662 109855662 single base substitution G A intron_variant MELA-AU 2 109855677 109855677 single base substitution C T intron_variant MELA-AU 2 109855762 109855762 single base substitution C T intron_variant MELA-AU 2 109855813 109855813 single base substitution C T intron_variant MELA-AU 2 109855903 109855903 single base substitution C T intron_variant MELA-AU 2 109856620 109856620 single base substitution C T intron_variant MELA-AU 2 109856727 109856728 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 109856816 109856816 single base substitution T G intron_variant MELA-AU 2 109857279 109857279 single base substitution C T intron_variant MELA-AU 2 109857332 109857332 single base substitution C T intron_variant MELA-AU 2 109857452 109857452 single base substitution C T intron_variant MELA-AU 2 109857460 109857460 single base substitution C T intron_variant MELA-AU 2 109857993 109857993 single base substitution C T intron_variant MELA-AU 2 109858929 109858929 single base substitution G A intron_variant MELA-AU 2 109859265 109859265 single base substitution C T intron_variant MELA-AU 2 109859336 109859336 single base substitution G A intron_variant MELA-AU 2 109859446 109859446 single base substitution C T intron_variant MELA-AU 2 109860917 109860917 single base substitution C T intron_variant MELA-AU 2 109861055 109861055 single base substitution G A intron_variant MELA-AU 2 109861252 109861252 single base substitution C T intron_variant MELA-AU 2 109862382 109862382 single base substitution C T intron_variant MELA-AU 2 109862439 109862439 single base substitution C T intron_variant MELA-AU 2 109863300 109863300 single base substitution G A intron_variant MELA-AU 2 109863436 109863436 single base substitution A G intron_variant MELA-AU 2 109863550 109863550 single base substitution C T intron_variant MELA-AU 2 109863795 109863795 single base substitution C T intron_variant MELA-AU 2 109863902 109863902 single base substitution C T intron_variant MELA-AU 2 109864242 109864242 single base substitution A C intron_variant MELA-AU 2 109865306 109865306 single base substitution C T intron_variant MELA-AU 2 109865313 109865313 single base substitution C T intron_variant MELA-AU 2 109865325 109865325 single base substitution C T intron_variant MELA-AU 2 109866092 109866092 single base substitution T A intron_variant MELA-AU 2 109866634 109866635 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 109866866 109866866 single base substitution C T intron_variant MELA-AU 2 109866957 109866957 single base substitution G A intron_variant MELA-AU 2 109867227 109867227 single base substitution G A intron_variant MELA-AU 2 109867496 109867496 single base substitution C T intron_variant MELA-AU 2 109867548 109867548 single base substitution C A intron_variant MELA-AU 2 109867912 109867912 single base substitution C T intron_variant MELA-AU 2 109868075 109868075 single base substitution C T intron_variant MELA-AU 2 109868331 109868331 single base substitution G A intron_variant MELA-AU 2 109868393 109868393 single base substitution C T intron_variant MELA-AU 2 109868437 109868437 single base substitution G A intron_variant MELA-AU 2 109868495 109868495 single base substitution G A intron_variant MELA-AU 2 109869209 109869209 single base substitution C T intron_variant MELA-AU 2 109869524 109869525 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 109870230 109870230 single base substitution G A intron_variant MELA-AU 2 109871041 109871041 single base substitution G A intron_variant MELA-AU 2 109871313 109871313 single base substitution G A intron_variant MELA-AU 2 109871399 109871399 single base substitution G T intron_variant MELA-AU 2 109871684 109871684 single base substitution G A intron_variant MELA-AU 2 109871747 109871747 single base substitution C T intron_variant MELA-AU 2 109872182 109872182 single base substitution G A intron_variant MELA-AU 2 109872246 109872246 single base substitution G A intron_variant MELA-AU 2 109872385 109872385 single base substitution G A intron_variant MELA-AU 2 109872683 109872683 single base substitution T C intron_variant MELA-AU 2 109872695 109872718 deletion of <=200bp CCATGGACAGGTCGCGCATTGTTT - intron_variant MELA-AU 2 109872707 109872707 single base substitution C T intron_variant MELA-AU 2 109872926 109872926 single base substitution G A intron_variant MELA-AU 2 109873107 109873107 single base substitution C T intron_variant MELA-AU 2 109873456 109873456 single base substitution T G intron_variant MELA-AU 2 109873631 109873631 single base substitution G A intron_variant MELA-AU 2 109873706 109873706 single base substitution C T intron_variant MELA-AU 2 109873741 109873741 single base substitution C T intron_variant MELA-AU 2 109874524 109874525 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 109874775 109874775 single base substitution C T intron_variant MELA-AU 2 109875149 109875149 single base substitution G A intron_variant MELA-AU 2 109875377 109875377 single base substitution G A intron_variant MELA-AU 2 109875481 109875481 single base substitution C T intron_variant MELA-AU 2 109875770 109875770 single base substitution C T intron_variant MELA-AU 2 109876147 109876147 single base substitution G A intron_variant MELA-AU 2 109876532 109876532 single base substitution G A intron_variant MELA-AU 2 109876831 109876831 single base substitution C T intron_variant MELA-AU 2 109876831 109876832 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 109876972 109876972 single base substitution C T intron_variant MELA-AU 2 109877223 109877223 single base substitution C T intron_variant MELA-AU 2 109877353 109877353 single base substitution C T intron_variant MELA-AU 2 109878225 109878225 single base substitution G A intron_variant MELA-AU 2 109878295 109878295 single base substitution G A intron_variant MELA-AU 2 109878690 109878690 single base substitution C T intron_variant MELA-AU 2 109879075 109879075 single base substitution T C intron_variant MELA-AU 2 109879205 109879205 single base substitution C T intron_variant MELA-AU 2 109880008 109880008 single base substitution G A intron_variant MELA-AU 2 109880419 109880419 single base substitution C T intron_variant MELA-AU 2 109880669 109880669 single base substitution G A intron_variant MELA-AU 2 109880844 109880844 single base substitution C T intron_variant MELA-AU 2 109880849 109880849 single base substitution C T intron_variant MELA-AU 2 109880882 109880882 single base substitution C G intron_variant MELA-AU 2 109882998 109882998 single base substitution C T intron_variant MELA-AU 2 109883820 109883820 single base substitution G A intron_variant MELA-AU 2 109883888 109883888 single base substitution C T intron_variant MELA-AU 2 109884094 109884094 single base substitution C T intron_variant MELA-AU 2 109884124 109884124 single base substitution G A intron_variant MELA-AU 2 109884246 109884246 single base substitution G A intron_variant MELA-AU 2 109884484 109884485 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 109884597 109884597 single base substitution C T intron_variant MELA-AU 2 109884697 109884697 single base substitution C T intron_variant MELA-AU 2 109885793 109885793 single base substitution G A intron_variant MELA-AU 2 109886278 109886278 single base substitution G A intron_variant MELA-AU 2 109886484 109886484 single base substitution T C intron_variant MELA-AU 2 109887173 109887173 single base substitution C T intron_variant MELA-AU 2 109887764 109887764 single base substitution A C intron_variant MELA-AU 2 109887801 109887801 single base substitution G A intron_variant MELA-AU 2 109888173 109888173 single base substitution C T intron_variant MELA-AU 2 109888599 109888599 single base substitution C T intron_variant MELA-AU 2 109888633 109888633 single base substitution A T intron_variant MELA-AU 2 109888672 109888672 single base substitution C T intron_variant MELA-AU 2 109888766 109888766 single base substitution C T intron_variant MELA-AU 2 109889707 109889707 single base substitution G A intron_variant MELA-AU 2 109890181 109890181 single base substitution G A intron_variant MELA-AU 2 109890415 109890415 single base substitution G A intron_variant MELA-AU 2 109890785 109890785 single base substitution A G intron_variant MELA-AU 2 109893371 109893371 single base substitution G A intron_variant MELA-AU 2 109893517 109893517 single base substitution G A intron_variant MELA-AU 2 109893779 109893779 single base substitution G A intron_variant MELA-AU 2 109894152 109894152 single base substitution G A intron_variant MELA-AU 2 109894413 109894413 single base substitution T C intron_variant MELA-AU 2 109894785 109894785 single base substitution C T intron_variant MELA-AU 2 109895536 109895536 single base substitution T G intron_variant MELA-AU 2 109896090 109896090 single base substitution C T intron_variant MELA-AU 2 109896174 109896174 single base substitution C T intron_variant MELA-AU 2 109896209 109896209 single base substitution G A intron_variant MELA-AU 2 109896313 109896313 single base substitution G A intron_variant MELA-AU 2 109896332 109896332 single base substitution C T intron_variant MELA-AU 2 109896442 109896442 single base substitution G A intron_variant MELA-AU 2 109896661 109896661 single base substitution C A intron_variant MELA-AU 2 109896661 109896661 single base substitution C T intron_variant MELA-AU 2 109896702 109896702 single base substitution G A intron_variant MELA-AU 2 109896839 109896839 single base substitution C T intron_variant MELA-AU 2 109896909 109896909 single base substitution G A intron_variant MELA-AU 2 109897648 109897648 single base substitution C T intron_variant MELA-AU 2 109897795 109897795 single base substitution C T intron_variant MELA-AU 2 109898012 109898012 single base substitution C T intron_variant MELA-AU 2 109898594 109898594 single base substitution G A intron_variant MELA-AU 2 109899154 109899154 single base substitution T A intron_variant MELA-AU 2 109900078 109900078 single base substitution A C intron_variant MELA-AU 2 109900976 109900976 single base substitution G A intron_variant MELA-AU 2 109901203 109901203 single base substitution C T intron_variant MELA-AU 2 109901371 109901371 single base substitution C T intron_variant MELA-AU 2 109901460 109901460 single base substitution G A intron_variant MELA-AU 2 109901559 109901559 single base substitution C T intron_variant MELA-AU 2 109902010 109902011 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 109902217 109902217 single base substitution G A intron_variant MELA-AU 2 109902626 109902626 single base substitution G A intron_variant MELA-AU 2 109902684 109902684 single base substitution C T intron_variant MELA-AU 2 109902824 109902824 single base substitution C T intron_variant MELA-AU 2 109902936 109902936 single base substitution C T intron_variant MELA-AU 2 109903018 109903018 single base substitution G A intron_variant MELA-AU 2 109903317 109903317 single base substitution A T intron_variant MELA-AU 2 109903322 109903322 single base substitution C T intron_variant MELA-AU 2 109903406 109903406 single base substitution A G intron_variant MELA-AU 2 109903591 109903591 single base substitution G A intron_variant MELA-AU 2 109903668 109903668 single base substitution C T intron_variant MELA-AU 2 109903689 109903689 single base substitution G A intron_variant MELA-AU 2 109904007 109904007 single base substitution C T intron_variant MELA-AU 2 109904068 109904068 single base substitution T C intron_variant MELA-AU 2 109904119 109904119 single base substitution C T intron_variant MELA-AU 2 109904219 109904219 single base substitution C T intron_variant MELA-AU 2 109904311 109904311 single base substitution C T intron_variant MELA-AU 2 109904603 109904603 single base substitution G A intron_variant MELA-AU 2 109906082 109906082 single base substitution G A intron_variant MELA-AU 2 109906856 109906856 single base substitution C T intron_variant MELA-AU 2 109907332 109907332 single base substitution C T intron_variant MELA-AU 2 109907712 109907712 single base substitution G A intron_variant MELA-AU 2 109908235 109908235 single base substitution C T intron_variant MELA-AU 2 109908519 109908519 single base substitution C T intron_variant MELA-AU 2 109908554 109908554 single base substitution C T intron_variant MELA-AU 2 109908798 109908798 single base substitution T A intron_variant MELA-AU 2 109908851 109908851 single base substitution C T intron_variant MELA-AU 2 109908948 109908948 single base substitution C T intron_variant MELA-AU 2 109909408 109909408 single base substitution G A intron_variant MELA-AU 2 109909412 109909412 single base substitution T G intron_variant MELA-AU 2 109909606 109909606 single base substitution G A intron_variant MELA-AU 2 109909663 109909663 single base substitution G A intron_variant MELA-AU 2 109909686 109909686 single base substitution G A intron_variant MELA-AU 2 109909716 109909716 single base substitution G A intron_variant MELA-AU 2 109911367 109911367 single base substitution G A intron_variant MELA-AU 2 109912047 109912047 single base substitution C T intron_variant MELA-AU 2 109912321 109912321 single base substitution C T intron_variant MELA-AU 2 109912842 109912843 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 109912843 109912843 single base substitution C T intron_variant MELA-AU 2 109913772 109913772 single base substitution G A intron_variant MELA-AU 2 109913960 109913960 single base substitution C T intron_variant MELA-AU 2 109914188 109914188 single base substitution C T intron_variant MELA-AU 2 109914295 109914295 single base substitution C T intron_variant MELA-AU 2 109915235 109915235 single base substitution C T intron_variant MELA-AU 2 109915465 109915466 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 109915675 109915675 single base substitution G A intron_variant MELA-AU 2 109916258 109916258 single base substitution C T intron_variant MELA-AU 2 109916929 109916929 single base substitution C T intron_variant MELA-AU 2 109916965 109916965 single base substitution C T intron_variant MELA-AU 2 109917019 109917019 single base substitution C T intron_variant MELA-AU 2 109917430 109917430 single base substitution T A intron_variant MELA-AU 2 109918004 109918004 single base substitution C T intron_variant MELA-AU 2 109918217 109918217 single base substitution C T intron_variant MELA-AU 2 109918451 109918451 single base substitution C T intron_variant MELA-AU 2 109918581 109918581 single base substitution G A intron_variant MELA-AU 2 109918737 109918737 insertion of <=200bp - G intron_variant MELA-AU 2 109919614 109919614 single base substitution G A intron_variant MELA-AU 2 109919637 109919637 single base substitution C T intron_variant MELA-AU 2 109919827 109919827 single base substitution C T intron_variant MELA-AU 2 109919995 109919995 single base substitution C T intron_variant MELA-AU 2 109920049 109920049 single base substitution G A intron_variant MELA-AU 2 109920395 109920395 single base substitution T C intron_variant MELA-AU 2 109920877 109920877 single base substitution C T intron_variant MELA-AU 2 109921598 109921598 single base substitution G A intron_variant MELA-AU 2 109921760 109921760 single base substitution G A intron_variant MELA-AU 2 109921819 109921819 single base substitution C A intron_variant MELA-AU 2 109921876 109921876 single base substitution C T intron_variant MELA-AU 2 109921883 109921883 single base substitution C T intron_variant MELA-AU 2 109921969 109921969 single base substitution C T intron_variant MELA-AU 2 109922052 109922052 single base substitution G A intron_variant MELA-AU 2 109922196 109922196 single base substitution C T intron_variant MELA-AU 2 109922758 109922758 single base substitution C T intron_variant MELA-AU 2 109922846 109922846 single base substitution C T intron_variant MELA-AU 2 109922860 109922860 single base substitution C T intron_variant MELA-AU 2 109923338 109923338 single base substitution G A intron_variant MELA-AU 2 109923353 109923353 single base substitution G A intron_variant MELA-AU 2 109923594 109923594 single base substitution G T intron_variant MELA-AU 2 109926147 109926147 single base substitution G A intron_variant MELA-AU 2 109928662 109928662 single base substitution G A intron_variant MELA-AU 2 109928870 109928870 single base substitution T C intron_variant MELA-AU 2 109928894 109928894 single base substitution C T intron_variant MELA-AU 2 109929000 109929000 single base substitution C T intron_variant MELA-AU 2 109929303 109929303 single base substitution T C intron_variant MELA-AU 2 109929318 109929318 single base substitution T A intron_variant MELA-AU 2 109929689 109929689 single base substitution A G intron_variant MELA-AU 2 109929709 109929709 single base substitution C T intron_variant MELA-AU 2 109929834 109929834 single base substitution G A intron_variant MELA-AU 2 109930958 109930958 single base substitution C T intron_variant MELA-AU 2 109931298 109931299 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 109932158 109932158 single base substitution C T intron_variant MELA-AU 2 109932282 109932282 single base substitution G A intron_variant MELA-AU 2 109932397 109932397 single base substitution G A intron_variant MELA-AU 2 109932400 109932400 single base substitution G A intron_variant MELA-AU 2 109932481 109932481 single base substitution C T intron_variant MELA-AU 2 109932538 109932538 single base substitution C T intron_variant MELA-AU 2 109932539 109932539 single base substitution C T intron_variant MELA-AU 2 109932760 109932760 single base substitution G A intron_variant MELA-AU 2 109933066 109933066 single base substitution C T intron_variant MELA-AU 2 109933512 109933512 single base substitution G A intron_variant MELA-AU 2 109933905 109933905 single base substitution C T intron_variant MELA-AU 2 109933928 109933928 single base substitution C T intron_variant MELA-AU 2 109934294 109934294 single base substitution G A intron_variant MELA-AU 2 109935057 109935057 single base substitution G A intron_variant MELA-AU 2 109935599 109935599 single base substitution G A intron_variant MELA-AU 2 109935659 109935659 single base substitution T C intron_variant MELA-AU 2 109936233 109936233 single base substitution C T intron_variant MELA-AU 2 109936523 109936523 single base substitution G A intron_variant MELA-AU 2 109936736 109936736 single base substitution C T intron_variant MELA-AU 2 109938286 109938286 single base substitution A G intron_variant MELA-AU 2 109938666 109938666 single base substitution C T intron_variant MELA-AU 2 109938944 109938944 single base substitution G A intron_variant MELA-AU 2 109939474 109939474 single base substitution C T intron_variant MELA-AU 2 109939599 109939599 single base substitution C T intron_variant MELA-AU 2 109939646 109939646 single base substitution C T intron_variant MELA-AU 2 109939658 109939658 single base substitution G A intron_variant MELA-AU 2 109939681 109939681 single base substitution C T intron_variant MELA-AU 2 109939891 109939891 single base substitution C T intron_variant MELA-AU 2 109940219 109940219 single base substitution A G intron_variant MELA-AU 2 109941115 109941115 single base substitution C T intron_variant MELA-AU 2 109941140 109941140 single base substitution C G intron_variant MELA-AU 2 109941520 109941520 single base substitution C T intron_variant MELA-AU 2 109941773 109941773 single base substitution T A intron_variant MELA-AU 2 109941864 109941864 single base substitution C T intron_variant MELA-AU 2 109941970 109941970 single base substitution C T intron_variant MELA-AU 2 109942008 109942008 single base substitution C T intron_variant MELA-AU 2 109942019 109942019 single base substitution C T intron_variant MELA-AU 2 109942188 109942188 single base substitution G A intron_variant MELA-AU 2 109942239 109942239 single base substitution C T intron_variant MELA-AU 2 109942568 109942568 single base substitution C T intron_variant MELA-AU 2 109942853 109942853 single base substitution C T intron_variant MELA-AU 2 109943338 109943338 single base substitution G A intron_variant MELA-AU 2 109944126 109944126 single base substitution C T intron_variant MELA-AU 2 109944562 109944562 single base substitution C T intron_variant MELA-AU 2 109944657 109944657 single base substitution C T intron_variant MELA-AU 2 109944755 109944755 single base substitution T A intron_variant MELA-AU 2 109945178 109945178 single base substitution G A intron_variant MELA-AU 2 109945581 109945581 single base substitution C T intron_variant MELA-AU 2 109945743 109945743 single base substitution A G intron_variant MELA-AU 2 109945994 109945994 single base substitution C A intron_variant MELA-AU 2 109946057 109946057 single base substitution G A intron_variant MELA-AU 2 109946073 109946073 single base substitution C T intron_variant MELA-AU 2 109946753 109946753 single base substitution G A intron_variant MELA-AU 2 109946934 109946934 single base substitution G A intron_variant MELA-AU 2 109947163 109947163 single base substitution G A intron_variant MELA-AU 2 109947207 109947207 single base substitution A G intron_variant MELA-AU 2 109947679 109947679 single base substitution C T intron_variant MELA-AU 2 109948291 109948291 single base substitution G A intron_variant MELA-AU 2 109948617 109948617 single base substitution G A intron_variant MELA-AU 2 109948667 109948667 single base substitution C T intron_variant MELA-AU 2 109949355 109949355 single base substitution G A intron_variant MELA-AU 2 109949910 109949910 single base substitution G A intron_variant MELA-AU 2 109949945 109949945 single base substitution G T intron_variant MELA-AU 2 109950184 109950184 single base substitution C T intron_variant MELA-AU 2 109950221 109950221 single base substitution A G intron_variant MELA-AU 2 109950980 109950980 single base substitution T C intron_variant MELA-AU 2 109951192 109951192 single base substitution G A intron_variant MELA-AU 2 109951244 109951244 single base substitution T C intron_variant MELA-AU 2 109951419 109951419 single base substitution C T intron_variant MELA-AU 2 109951630 109951630 single base substitution C T intron_variant MELA-AU 2 109951816 109951816 single base substitution C T intron_variant MELA-AU 2 109952003 109952003 single base substitution C T intron_variant MELA-AU 2 109952168 109952168 single base substitution C T intron_variant MELA-AU 2 109952882 109952882 single base substitution G A intron_variant MELA-AU 2 109953729 109953729 single base substitution G A intron_variant MELA-AU 2 109953743 109953743 single base substitution C T intron_variant MELA-AU 2 109953870 109953870 single base substitution C T intron_variant MELA-AU 2 109953877 109953877 single base substitution C T intron_variant MELA-AU 2 109953936 109953936 single base substitution G A intron_variant MELA-AU 2 109954031 109954031 single base substitution C T intron_variant MELA-AU 2 109954191 109954191 single base substitution C T intron_variant MELA-AU 2 109954270 109954270 single base substitution A G intron_variant MELA-AU 2 109954413 109954413 single base substitution C T intron_variant MELA-AU 2 109954505 109954505 single base substitution G A intron_variant MELA-AU 2 109954673 109954673 single base substitution C T intron_variant MELA-AU 2 109954855 109954855 single base substitution C T intron_variant MELA-AU 2 109955077 109955077 single base substitution G A intron_variant MELA-AU 2 109955533 109955533 single base substitution C T intron_variant MELA-AU 2 109955792 109955792 single base substitution A G intron_variant MELA-AU 2 109955981 109955981 single base substitution C T intron_variant MELA-AU 2 109956009 109956009 single base substitution C T intron_variant MELA-AU 2 109956370 109956370 single base substitution C T intron_variant MELA-AU 2 109956423 109956423 single base substitution C T intron_variant MELA-AU 2 109956700 109956700 single base substitution C T intron_variant MELA-AU 2 109956839 109956839 single base substitution C T intron_variant MELA-AU 2 109956960 109956960 single base substitution T G intron_variant MELA-AU 2 109957143 109957143 single base substitution C T intron_variant MELA-AU 2 109957194 109957194 single base substitution C T intron_variant MELA-AU 2 109957320 109957320 single base substitution G A intron_variant MELA-AU 2 109957321 109957321 single base substitution G A intron_variant MELA-AU 2 109957370 109957370 single base substitution A G intron_variant MELA-AU 2 109958061 109958061 single base substitution C T intron_variant MELA-AU 2 109958113 109958113 single base substitution C T intron_variant MELA-AU 2 109958586 109958586 single base substitution C T intron_variant MELA-AU 2 109958737 109958737 single base substitution G A intron_variant MELA-AU 2 109958936 109958936 single base substitution A C intron_variant MELA-AU 2 109958990 109958991 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 109960286 109960286 single base substitution G A intron_variant MELA-AU 2 109960455 109960455 single base substitution C T intron_variant MELA-AU 2 109960499 109960499 single base substitution C T intron_variant MELA-AU 2 109960556 109960556 single base substitution A G intron_variant MELA-AU 2 109960863 109960863 single base substitution C T intron_variant MELA-AU 2 109960891 109960891 single base substitution G A intron_variant MELA-AU 2 109961013 109961013 single base substitution T G intron_variant MELA-AU 2 109961778 109961778 single base substitution C T intron_variant MELA-AU 2 109961816 109961816 single base substitution C T intron_variant MELA-AU 2 109962204 109962204 single base substitution G A intron_variant MELA-AU 2 109962569 109962569 single base substitution G A intron_variant MELA-AU 2 109962749 109962749 single base substitution C T intron_variant MELA-AU 2 109963163 109963163 single base substitution T C intron_variant MELA-AU 2 109963186 109963186 single base substitution T C intron_variant MELA-AU 2 109963206 109963206 single base substitution C T intron_variant MELA-AU 2 109963307 109963307 single base substitution C T intron_variant MELA-AU 2 109963474 109963474 single base substitution C T intron_variant MELA-AU 2 109963639 109963639 single base substitution C T intron_variant MELA-AU 2 109964024 109964024 single base substitution C A intron_variant MELA-AU 2 109964180 109964180 single base substitution G A synonymous_variant K208K 624G>A MELA-AU 2 109964205 109964205 single base substitution A G missense_variant K217E 649A>G MELA-AU 2 109964333 109964333 single base substitution C T synonymous_variant P259P 777C>T MELA-AU 2 109964555 109964555 single base substitution C T intron_variant MELA-AU 2 109965371 109965371 single base substitution A G intron_variant MELA-AU 2 109965554 109965554 single base substitution C T intron_variant MELA-AU 2 109965961 109965962 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 109965998 109965998 single base substitution T C intron_variant MELA-AU 2 109966198 109966198 single base substitution G A intron_variant MELA-AU 2 109966372 109966372 single base substitution C T intron_variant MELA-AU 2 109966572 109966572 single base substitution C T intron_variant MELA-AU 2 109966879 109966879 single base substitution G A intron_variant MELA-AU 2 109968424 109968424 single base substitution C T intron_variant MELA-AU 2 109968884 109968884 single base substitution G A intron_variant MELA-AU 2 109969069 109969069 single base substitution C T intron_variant MELA-AU 2 109969070 109969070 single base substitution C T intron_variant MELA-AU 2 109969256 109969257 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 109969263 109969263 single base substitution G A intron_variant MELA-AU 2 109969502 109969502 single base substitution G A intron_variant MELA-AU 2 109969513 109969513 single base substitution C T intron_variant MELA-AU 2 109969628 109969628 single base substitution C T intron_variant MELA-AU 2 109969794 109969794 single base substitution C T intron_variant MELA-AU 2 109970626 109970626 single base substitution C T intron_variant MELA-AU 2 109971169 109971169 single base substitution G A intron_variant MELA-AU 2 109971483 109971483 single base substitution C T intron_variant MELA-AU 2 109971982 109971982 single base substitution C T intron_variant MELA-AU 2 109972071 109972071 single base substitution C T intron_variant MELA-AU 2 109972387 109972387 single base substitution G A intron_variant MELA-AU 2 109972416 109972416 single base substitution C T intron_variant MELA-AU 2 109972417 109972417 single base substitution C T intron_variant MELA-AU 2 109972734 109972734 single base substitution G A intron_variant MELA-AU 2 109972739 109972739 single base substitution C T intron_variant MELA-AU 2 109973021 109973021 single base substitution C T intron_variant MELA-AU 2 109973343 109973343 single base substitution C T intron_variant MELA-AU 2 109974470 109974470 single base substitution T C intron_variant MELA-AU 2 109974512 109974512 single base substitution C T intron_variant MELA-AU 2 109974567 109974567 single base substitution C T intron_variant MELA-AU 2 109974927 109974927 single base substitution C T intron_variant MELA-AU 2 109975141 109975141 single base substitution C T intron_variant MELA-AU 2 109975268 109975268 single base substitution C T intron_variant MELA-AU 2 109975299 109975299 single base substitution C T intron_variant MELA-AU 2 109975467 109975467 single base substitution C T intron_variant MELA-AU 2 109975520 109975520 single base substitution C T intron_variant MELA-AU 2 109975582 109975583 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 2 109975689 109975689 single base substitution C T intron_variant MELA-AU 2 109976460 109976460 single base substitution C T intron_variant MELA-AU 2 109976467 109976467 single base substitution C T intron_variant MELA-AU 2 109976916 109976916 single base substitution C T intron_variant MELA-AU 2 109977367 109977367 single base substitution G A intron_variant MELA-AU 2 109977795 109977795 single base substitution T C intron_variant MELA-AU 2 109977799 109977799 single base substitution G A intron_variant MELA-AU 2 109978020 109978020 single base substitution C T intron_variant MELA-AU 2 109978021 109978021 single base substitution C T intron_variant MELA-AU 2 109978179 109978179 single base substitution A T intron_variant MELA-AU 2 109978272 109978272 single base substitution T A intron_variant MELA-AU 2 109978495 109978495 single base substitution C T intron_variant MELA-AU 2 109978498 109978498 single base substitution T C intron_variant MELA-AU 2 109978585 109978585 single base substitution C T intron_variant MELA-AU 2 109978630 109978630 single base substitution C T intron_variant MELA-AU 2 109978778 109978778 single base substitution C A intron_variant MELA-AU 2 109978780 109978780 single base substitution A G intron_variant MELA-AU 2 109978902 109978902 single base substitution T A intron_variant MELA-AU 2 109979227 109979227 single base substitution A T intron_variant MELA-AU 2 109979377 109979377 single base substitution C T intron_variant MELA-AU 2 109979611 109979611 insertion of <=200bp - G intron_variant MELA-AU 2 109979659 109979659 single base substitution C A intron_variant MELA-AU 2 109979832 109979832 single base substitution C T intron_variant MELA-AU 2 109981100 109981100 single base substitution C T intron_variant MELA-AU 2 109981222 109981222 single base substitution C T intron_variant MELA-AU 2 109981717 109981717 single base substitution C T intron_variant MELA-AU 2 109981992 109981992 single base substitution G A intron_variant MELA-AU 2 109982164 109982164 single base substitution C T intron_variant MELA-AU 2 109983510 109983510 single base substitution G A intron_variant MELA-AU 2 109983653 109983653 single base substitution C T intron_variant MELA-AU 2 109983825 109983825 single base substitution C T intron_variant MELA-AU 2 109984565 109984565 single base substitution C T intron_variant MELA-AU 2 109984938 109984938 single base substitution T A intron_variant MELA-AU 2 109985048 109985048 single base substitution G A intron_variant MELA-AU 2 109985715 109985715 single base substitution G A intron_variant MELA-AU 2 109986165 109986165 single base substitution C T intron_variant MELA-AU 2 109986455 109986455 single base substitution C T intron_variant MELA-AU 2 109986507 109986507 single base substitution G A intron_variant MELA-AU 2 109986787 109986787 single base substitution C T intron_variant MELA-AU 2 109986894 109986894 single base substitution C T intron_variant MELA-AU 2 109987062 109987062 single base substitution C T intron_variant MELA-AU 2 109987086 109987086 single base substitution C T intron_variant MELA-AU 2 109987121 109987121 single base substitution C T intron_variant MELA-AU 2 109987648 109987648 single base substitution C T intron_variant MELA-AU 2 109987721 109987721 single base substitution C T intron_variant MELA-AU 2 109988204 109988204 single base substitution C T intron_variant MELA-AU 2 109988513 109988513 single base substitution C T intron_variant MELA-AU 2 109988533 109988533 single base substitution C T intron_variant MELA-AU 2 109989086 109989086 single base substitution A T intron_variant MELA-AU 2 109989249 109989249 single base substitution C T intron_variant MELA-AU 2 109989624 109989624 single base substitution C T intron_variant MELA-AU 2 109989799 109989799 single base substitution C T intron_variant MELA-AU 2 109989830 109989830 single base substitution C T intron_variant MELA-AU 2 109990147 109990147 single base substitution C T intron_variant MELA-AU 2 109990588 109990588 single base substitution T G intron_variant MELA-AU 2 109990855 109990855 single base substitution C T intron_variant MELA-AU 2 109990896 109990896 single base substitution G A intron_variant MELA-AU 2 109990897 109990897 single base substitution G A intron_variant MELA-AU 2 109991175 109991175 single base substitution T G intron_variant MELA-AU 2 109991508 109991508 single base substitution C T intron_variant MELA-AU 2 109991629 109991629 single base substitution C T intron_variant MELA-AU 2 109991719 109991719 single base substitution A T intron_variant MELA-AU 2 109991735 109991735 single base substitution C T intron_variant MELA-AU 2 109991989 109991989 single base substitution C T intron_variant MELA-AU 2 109992045 109992045 single base substitution G A intron_variant MELA-AU 2 109992076 109992077 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 109992083 109992083 single base substitution C T intron_variant MELA-AU 2 109992175 109992175 single base substitution G A intron_variant MELA-AU 2 109992182 109992182 single base substitution A T intron_variant MELA-AU 2 109992252 109992252 single base substitution C T intron_variant MELA-AU 2 109992283 109992283 single base substitution C T intron_variant MELA-AU 2 109992624 109992624 single base substitution C T intron_variant MELA-AU 2 109992961 109992961 single base substitution C T intron_variant MELA-AU 2 109993043 109993043 single base substitution C T intron_variant MELA-AU 2 109993322 109993322 single base substitution C T intron_variant MELA-AU 2 109993447 109993447 single base substitution C T intron_variant MELA-AU 2 109993451 109993451 single base substitution A G intron_variant MELA-AU 2 109993601 109993601 single base substitution C T intron_variant MELA-AU 2 109993742 109993742 single base substitution G A intron_variant MELA-AU 2 109993864 109993864 single base substitution C T intron_variant MELA-AU 2 109994392 109994392 single base substitution G A intron_variant MELA-AU 2 109994693 109994693 single base substitution G A intron_variant MELA-AU 2 109994760 109994760 single base substitution C A intron_variant MELA-AU 2 109994817 109994817 single base substitution G A intron_variant MELA-AU 2 109995121 109995121 single base substitution G C intron_variant MELA-AU 2 109995161 109995161 single base substitution C G intron_variant MELA-AU 2 109995242 109995242 single base substitution A G intron_variant MELA-AU 2 109995874 109995874 single base substitution C T intron_variant MELA-AU 2 109995879 109995879 single base substitution G A intron_variant MELA-AU 2 109996141 109996141 single base substitution C T intron_variant MELA-AU 2 109996552 109996552 single base substitution C T intron_variant MELA-AU 2 109996574 109996574 single base substitution G A intron_variant MELA-AU 2 109997038 109997038 single base substitution C T intron_variant MELA-AU 2 109997520 109997520 single base substitution C T intron_variant MELA-AU 2 109997739 109997739 single base substitution C T intron_variant MELA-AU 2 109997752 109997752 single base substitution C T intron_variant MELA-AU 2 109997911 109997911 single base substitution A G intron_variant MELA-AU 2 109998333 109998333 single base substitution G A intron_variant MELA-AU 2 109998602 109998602 single base substitution G A intron_variant MELA-AU 2 109998854 109998854 single base substitution A G intron_variant MELA-AU 2 109998901 109998901 single base substitution C T intron_variant MELA-AU 2 109998992 109998992 single base substitution C T intron_variant MELA-AU 2 109999065 109999065 single base substitution C T intron_variant MELA-AU 2 109999463 109999463 single base substitution G A intron_variant MELA-AU 2 109999548 109999549 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 110000071 110000071 single base substitution G A intron_variant MELA-AU 2 110000498 110000498 single base substitution G A intron_variant MELA-AU 2 110000510 110000510 single base substitution C T intron_variant MELA-AU 2 110000587 110000587 single base substitution C T intron_variant MELA-AU 2 110000637 110000637 single base substitution C T intron_variant MELA-AU 2 110000705 110000705 single base substitution C T intron_variant MELA-AU 2 110000766 110000766 single base substitution C T intron_variant MELA-AU 2 110000871 110000871 single base substitution G A intron_variant MELA-AU 2 110001257 110001257 single base substitution C T intron_variant MELA-AU 2 110001645 110001645 single base substitution C T intron_variant MELA-AU 2 110002482 110002482 single base substitution C T intron_variant MELA-AU 2 110002713 110002713 single base substitution C T intron_variant MELA-AU 2 110002732 110002732 single base substitution C T intron_variant MELA-AU 2 110003129 110003129 single base substitution C T intron_variant MELA-AU 2 110003193 110003194 multiple base substitution (>=2bp and <=200bp) GG TT intron_variant MELA-AU 2 110003463 110003463 single base substitution A C intron_variant MELA-AU 2 110003671 110003671 single base substitution C T intron_variant MELA-AU 2 110003845 110003845 single base substitution C T intron_variant MELA-AU 2 110004020 110004020 single base substitution C T intron_variant MELA-AU 2 110004201 110004201 single base substitution C T intron_variant MELA-AU 2 110004430 110004430 single base substitution C T intron_variant MELA-AU 2 110004647 110004647 single base substitution C T intron_variant MELA-AU 2 110004889 110004889 single base substitution G A intron_variant MELA-AU 2 110005297 110005297 single base substitution G A intron_variant MELA-AU 2 110005517 110005517 single base substitution C T intron_variant MELA-AU 2 110006633 110006633 single base substitution C T intron_variant MELA-AU 2 110007764 110007764 single base substitution C T intron_variant MELA-AU 2 110007786 110007786 single base substitution C T intron_variant MELA-AU 2 110008189 110008189 single base substitution G A intron_variant MELA-AU 2 110008199 110008199 single base substitution G A intron_variant MELA-AU 2 110008700 110008701 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 2 110008755 110008755 single base substitution G A intron_variant MELA-AU 2 110008848 110008848 single base substitution C T intron_variant MELA-AU 2 110008905 110008905 single base substitution G A intron_variant MELA-AU 2 110009098 110009098 single base substitution C T intron_variant MELA-AU 2 110009185 110009185 single base substitution A T intron_variant MELA-AU 2 110009337 110009337 single base substitution G A intron_variant MELA-AU 2 110009663 110009663 single base substitution G A intron_variant MELA-AU 2 110009733 110009733 single base substitution G C intron_variant MELA-AU 2 110009907 110009907 single base substitution G A intron_variant MELA-AU 2 110009935 110009935 single base substitution A G intron_variant MELA-AU 2 110010131 110010131 single base substitution C T intron_variant MELA-AU 2 110010187 110010187 single base substitution C T intron_variant MELA-AU 2 110010341 110010341 single base substitution G A intron_variant MELA-AU 2 110010410 110010410 single base substitution G A intron_variant MELA-AU 2 110010500 110010500 single base substitution C T intron_variant MELA-AU 2 110010607 110010607 single base substitution C T intron_variant MELA-AU 2 110010995 110010995 single base substitution C T intron_variant MELA-AU 2 110011859 110011859 single base substitution C T intron_variant MELA-AU 2 110012259 110012259 single base substitution C T intron_variant MELA-AU 2 110012508 110012509 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 2 110012777 110012777 single base substitution G A intron_variant MELA-AU 2 110013012 110013012 single base substitution G A intron_variant MELA-AU 2 110014432 110014432 single base substitution G A intron_variant MELA-AU 2 110014608 110014609 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 110014843 110014843 single base substitution C T intron_variant MELA-AU 2 110015341 110015341 single base substitution C T missense_variant P414L 1241C>T MELA-AU 2 110016301 110016301 single base substitution T A intron_variant MELA-AU 2 110016520 110016521 multiple base substitution (>=2bp and <=200bp) AC GA intron_variant MELA-AU 2 110017066 110017066 single base substitution C T intron_variant MELA-AU 2 110017905 110017905 single base substitution G A intron_variant MELA-AU 2 110017920 110017920 single base substitution C T intron_variant MELA-AU 2 110017944 110017944 single base substitution C T intron_variant MELA-AU 2 110018866 110018866 single base substitution C T intron_variant MELA-AU 2 110019665 110019666 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 110019785 110019785 single base substitution C T intron_variant MELA-AU 2 110020104 110020104 single base substitution G A intron_variant MELA-AU 2 110020614 110020614 single base substitution G A intron_variant MELA-AU 2 110020887 110020887 single base substitution G A intron_variant MELA-AU 2 110021374 110021374 single base substitution C T intron_variant MELA-AU 2 110021535 110021535 single base substitution C T intron_variant MELA-AU 2 110021622 110021622 single base substitution C T intron_variant MELA-AU 2 110021627 110021627 single base substitution C T intron_variant MELA-AU 2 110021792 110021792 single base substitution C T intron_variant MELA-AU 2 110021824 110021824 single base substitution T A intron_variant MELA-AU 2 110021826 110021826 single base substitution C T intron_variant MELA-AU 2 110021986 110021986 single base substitution C T intron_variant MELA-AU 2 110021990 110021990 single base substitution G A intron_variant MELA-AU 2 110022029 110022029 single base substitution C T intron_variant MELA-AU 2 110022030 110022030 single base substitution C T intron_variant MELA-AU 2 110022211 110022211 single base substitution G A intron_variant MELA-AU 2 110022307 110022307 single base substitution C T intron_variant MELA-AU 2 110022684 110022684 single base substitution G A intron_variant MELA-AU 2 110022884 110022884 single base substitution C A intron_variant MELA-AU 2 110022908 110022908 single base substitution C T intron_variant MELA-AU 2 110023057 110023057 single base substitution G A intron_variant MELA-AU 2 110023207 110023207 single base substitution C T intron_variant MELA-AU 2 110025159 110025159 single base substitution G T intron_variant MELA-AU 2 110025278 110025278 single base substitution G A intron_variant MELA-AU 2 110025498 110025498 single base substitution C A intron_variant MELA-AU 2 110025498 110025498 single base substitution C T intron_variant MELA-AU 2 110025928 110025928 single base substitution C T intron_variant MELA-AU 2 110026501 110026501 single base substitution C T intron_variant MELA-AU 2 110026513 110026513 single base substitution C T intron_variant MELA-AU 2 110026621 110026621 single base substitution G A intron_variant MELA-AU 2 110027124 110027124 single base substitution C T intron_variant MELA-AU 2 110027311 110027311 single base substitution C T intron_variant MELA-AU 2 110028551 110028551 single base substitution G A intron_variant MELA-AU 2 110028607 110028607 single base substitution C T intron_variant MELA-AU 2 110029010 110029010 single base substitution G A intron_variant MELA-AU 2 110029238 110029238 single base substitution C T intron_variant MELA-AU 2 110029398 110029398 single base substitution C T intron_variant MELA-AU 2 110029678 110029678 single base substitution C T intron_variant MELA-AU 2 110029903 110029903 single base substitution A G intron_variant MELA-AU 2 110030114 110030114 single base substitution C T intron_variant MELA-AU 2 110030282 110030283 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 110030573 110030573 single base substitution G A intron_variant MELA-AU 2 110030820 110030820 single base substitution C T intron_variant MELA-AU 2 110030937 110030937 single base substitution T C intron_variant MELA-AU 2 110031380 110031380 single base substitution C T intron_variant MELA-AU 2 110031455 110031456 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 110031513 110031513 single base substitution G A intron_variant MELA-AU 2 110031601 110031601 single base substitution G T intron_variant MELA-AU 2 110031662 110031662 single base substitution G A intron_variant MELA-AU 2 110031992 110031992 single base substitution C T intron_variant MELA-AU 2 110032572 110032572 single base substitution C T intron_variant MELA-AU 2 110032932 110032932 single base substitution C T intron_variant MELA-AU 2 110033000 110033000 single base substitution C T intron_variant MELA-AU 2 110033037 110033037 single base substitution C T intron_variant MELA-AU 2 110033203 110033203 single base substitution G A intron_variant MELA-AU 2 110033446 110033446 single base substitution C T intron_variant MELA-AU 2 110033756 110033756 single base substitution G A intron_variant MELA-AU 2 110033837 110033837 single base substitution C G intron_variant MELA-AU 2 110034227 110034227 single base substitution C T intron_variant MELA-AU 2 110034465 110034465 single base substitution C T intron_variant MELA-AU 2 110034498 110034498 single base substitution C T intron_variant MELA-AU 2 110034608 110034608 single base substitution C T intron_variant MELA-AU 2 110034693 110034693 single base substitution C T intron_variant MELA-AU 2 110034699 110034699 single base substitution C T intron_variant MELA-AU 2 110034730 110034730 single base substitution C T intron_variant MELA-AU 2 110034834 110034834 single base substitution C T intron_variant MELA-AU 2 110034950 110034950 single base substitution C T intron_variant MELA-AU 2 110035018 110035018 single base substitution C T intron_variant MELA-AU 2 110035579 110035579 single base substitution G A intron_variant MELA-AU 2 110035840 110035840 single base substitution C T intron_variant MELA-AU 2 110036038 110036038 single base substitution G A missense_variant R448Q 1343G>A MELA-AU 2 110036156 110036157 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 110037576 110037576 single base substitution G A intron_variant MELA-AU 2 110037661 110037661 single base substitution C T intron_variant MELA-AU 2 110037865 110037865 single base substitution G A intron_variant MELA-AU 2 110037940 110037940 single base substitution C T intron_variant MELA-AU 2 110039253 110039253 single base substitution C T intron_variant MELA-AU 2 110039290 110039290 single base substitution G A intron_variant MELA-AU 2 110039403 110039403 single base substitution G A intron_variant MELA-AU 2 110039709 110039709 single base substitution C T intron_variant MELA-AU 2 110041664 110041664 single base substitution G A intron_variant MELA-AU 2 110041838 110041838 single base substitution T C intron_variant MELA-AU 2 110042463 110042463 single base substitution C T intron_variant MELA-AU 2 110043053 110043053 single base substitution C T intron_variant MELA-AU 2 110043287 110043302 deletion of <=200bp AGCCACCCCCACCTTT - intron_variant MELA-AU 2 110043544 110043544 single base substitution C A intron_variant MELA-AU 2 110044330 110044330 single base substitution G C intron_variant MELA-AU 2 110044603 110044603 single base substitution C A intron_variant MELA-AU 2 110044715 110044716 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 110045752 110045752 single base substitution C T intron_variant MELA-AU 2 110045765 110045765 single base substitution C T intron_variant MELA-AU 2 110045771 110045771 single base substitution G A intron_variant MELA-AU 2 110046112 110046112 single base substitution C T intron_variant MELA-AU 2 110046139 110046139 single base substitution C T intron_variant MELA-AU 2 110046627 110046627 single base substitution G A intron_variant MELA-AU 2 110047023 110047023 single base substitution C T intron_variant MELA-AU 2 110047248 110047248 single base substitution C T intron_variant MELA-AU 2 110047842 110047842 single base substitution C T intron_variant MELA-AU 2 110048436 110048436 single base substitution C T intron_variant MELA-AU 2 110048462 110048462 single base substitution C T intron_variant MELA-AU 2 110048654 110048654 single base substitution G A intron_variant MELA-AU 2 110048761 110048761 single base substitution C T intron_variant MELA-AU 2 110048785 110048785 single base substitution G A intron_variant MELA-AU 2 110048901 110048901 single base substitution G A intron_variant MELA-AU 2 110049522 110049522 single base substitution G A intron_variant MELA-AU 2 110049560 110049560 single base substitution T G intron_variant MELA-AU 2 110049788 110049788 single base substitution C T intron_variant MELA-AU 2 110049851 110049851 single base substitution T A intron_variant MELA-AU 2 110049927 110049927 single base substitution C T intron_variant MELA-AU 2 110050180 110050180 single base substitution C T intron_variant MELA-AU 2 110050680 110050680 single base substitution C T intron_variant MELA-AU 2 110050689 110050689 single base substitution C T intron_variant MELA-AU 2 110052166 110052166 single base substitution G A intron_variant MELA-AU 2 110052551 110052551 single base substitution C T intron_variant MELA-AU 2 110053781 110053781 single base substitution G A intron_variant MELA-AU 2 110054260 110054260 single base substitution G A intron_variant MELA-AU 2 110054654 110054654 single base substitution G A intron_variant MELA-AU 2 110055687 110055687 single base substitution C T intron_variant MELA-AU 2 110056211 110056211 single base substitution G A intron_variant MELA-AU 2 110056805 110056805 single base substitution G A intron_variant MELA-AU 2 110056840 110056840 single base substitution G A intron_variant MELA-AU 2 110057183 110057183 single base substitution G A intron_variant MELA-AU 2 110057833 110057833 single base substitution G A intron_variant MELA-AU 2 110058378 110058378 single base substitution C T intron_variant MELA-AU 2 110058550 110058550 single base substitution G A intron_variant MELA-AU 2 110059199 110059199 single base substitution A G intron_variant MELA-AU 2 110059965 110059965 single base substitution C T intron_variant MELA-AU 2 110060112 110060112 single base substitution G A intron_variant MELA-AU 2 110060329 110060329 single base substitution A G intron_variant MELA-AU 2 110060807 110060807 single base substitution G A intron_variant MELA-AU 2 110060845 110060845 single base substitution G A intron_variant MELA-AU 2 110060852 110060852 single base substitution G A intron_variant MELA-AU 2 110061745 110061745 single base substitution C T intron_variant MELA-AU 2 110062024 110062024 single base substitution G A intron_variant MELA-AU 2 110062202 110062202 single base substitution G A intron_variant MELA-AU 2 110062221 110062221 single base substitution G A intron_variant MELA-AU 2 110062535 110062535 single base substitution A C intron_variant MELA-AU 2 110062593 110062593 single base substitution G A intron_variant MELA-AU 2 110062707 110062707 single base substitution C T intron_variant MELA-AU 2 110062808 110062808 single base substitution T C intron_variant MELA-AU 2 110062916 110062916 single base substitution G A intron_variant MELA-AU 2 110062948 110062949 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 110063402 110063402 single base substitution A T intron_variant MELA-AU 2 110064110 110064110 single base substitution C T intron_variant MELA-AU 2 110064902 110064902 single base substitution C T intron_variant MELA-AU 2 110065228 110065228 insertion of <=200bp - C intron_variant MELA-AU 2 110065247 110065247 deletion of <=200bp A - intron_variant MELA-AU 2 110066222 110066222 single base substitution C T downstream_gene_variant MELA-AU 2 110066222 110066222 single base substitution C T intron_variant MELA-AU 2 110067092 110067092 single base substitution A G downstream_gene_variant MELA-AU 2 110067092 110067092 single base substitution A G intron_variant MELA-AU 2 110067333 110067333 single base substitution C T downstream_gene_variant MELA-AU 2 110067333 110067333 single base substitution C T intron_variant MELA-AU 2 110067788 110067788 single base substitution G A downstream_gene_variant MELA-AU 2 110067788 110067788 single base substitution G A intron_variant MELA-AU 2 110068095 110068095 single base substitution G A downstream_gene_variant MELA-AU 2 110068095 110068095 single base substitution G A intron_variant MELA-AU 2 110068361 110068361 single base substitution C T downstream_gene_variant MELA-AU 2 110068361 110068361 single base substitution C T intron_variant MELA-AU 2 110068381 110068381 single base substitution T G downstream_gene_variant MELA-AU 2 110068381 110068381 single base substitution T G intron_variant MELA-AU 2 110068719 110068719 single base substitution C T downstream_gene_variant MELA-AU 2 110068719 110068719 single base substitution C T intron_variant MELA-AU 2 110068904 110068904 single base substitution C T downstream_gene_variant MELA-AU 2 110068904 110068904 single base substitution C T intron_variant MELA-AU 2 110069460 110069460 single base substitution C T downstream_gene_variant MELA-AU 2 110069460 110069460 single base substitution C T intron_variant MELA-AU 2 110070153 110070153 single base substitution C A downstream_gene_variant MELA-AU 2 110070153 110070153 single base substitution C A intron_variant MELA-AU 2 110070311 110070311 single base substitution G A downstream_gene_variant MELA-AU 2 110070311 110070311 single base substitution G A intron_variant MELA-AU 2 110070322 110070322 single base substitution C T downstream_gene_variant MELA-AU 2 110070322 110070322 single base substitution C T intron_variant MELA-AU 2 110070798 110070798 single base substitution C T downstream_gene_variant MELA-AU 2 110070798 110070798 single base substitution C T intron_variant MELA-AU 2 110071495 110071495 single base substitution C T intron_variant MELA-AU 2 110072368 110072368 single base substitution G A intron_variant MELA-AU 2 110072980 110072980 single base substitution G A intron_variant MELA-AU 2 110073191 110073191 single base substitution G A intron_variant MELA-AU 2 110073347 110073347 single base substitution C T intron_variant MELA-AU 2 110073569 110073569 single base substitution G A intron_variant MELA-AU 2 110073917 110073917 single base substitution G T intron_variant MELA-AU 2 110073938 110073938 single base substitution C T intron_variant MELA-AU 2 110075409 110075409 single base substitution C T intron_variant MELA-AU 2 110075752 110075752 single base substitution T A intron_variant MELA-AU 2 110076657 110076657 single base substitution C T intron_variant MELA-AU 2 110076728 110076728 single base substitution C T intron_variant MELA-AU 2 110077585 110077585 single base substitution G A intron_variant MELA-AU 2 110077759 110077759 single base substitution G A intron_variant MELA-AU 2 110078402 110078402 single base substitution C T intron_variant MELA-AU 2 110078443 110078443 single base substitution C T intron_variant MELA-AU 2 110078807 110078807 single base substitution C T intron_variant MELA-AU 2 110079029 110079029 single base substitution C A intron_variant MELA-AU 2 110079228 110079228 single base substitution G A intron_variant MELA-AU 2 110079242 110079242 single base substitution C T intron_variant MELA-AU 2 110079385 110079385 single base substitution C T intron_variant MELA-AU 2 110079445 110079445 single base substitution C T intron_variant MELA-AU 2 110079950 110079950 single base substitution C T intron_variant MELA-AU 2 110081066 110081066 single base substitution C T intron_variant MELA-AU 2 110081918 110081918 single base substitution C T intron_variant MELA-AU 2 110081933 110081933 single base substitution C T intron_variant MELA-AU 2 110081976 110081976 single base substitution C T intron_variant MELA-AU 2 110082060 110082060 single base substitution T C intron_variant MELA-AU 2 110082566 110082566 single base substitution C T intron_variant MELA-AU 2 110082757 110082757 single base substitution T G intron_variant MELA-AU 2 110083921 110083921 single base substitution C T intron_variant MELA-AU 2 110084057 110084057 single base substitution G A intron_variant MELA-AU 2 110085426 110085426 single base substitution G A intron_variant MELA-AU 2 110085530 110085530 single base substitution C G intron_variant MELA-AU 2 110085606 110085606 single base substitution C T intron_variant MELA-AU 2 110085992 110085992 single base substitution G T intron_variant MELA-AU 2 110086126 110086126 single base substitution C T intron_variant MELA-AU 2 110086844 110086844 single base substitution C T intron_variant MELA-AU 2 110087648 110087648 single base substitution G A intron_variant MELA-AU 2 110088064 110088064 single base substitution C T intron_variant MELA-AU 2 110088803 110088803 single base substitution C T intron_variant MELA-AU 2 110089056 110089056 single base substitution C T intron_variant MELA-AU 2 110089144 110089144 single base substitution C T intron_variant MELA-AU 2 110089388 110089388 single base substitution C T intron_variant MELA-AU 2 110089433 110089433 single base substitution C T intron_variant MELA-AU 2 110089646 110089646 single base substitution G A intron_variant MELA-AU 2 110089814 110089814 single base substitution A G intron_variant MELA-AU 2 110090050 110090050 single base substitution T A intron_variant MELA-AU 2 110090313 110090313 single base substitution C T intron_variant MELA-AU 2 110090317 110090318 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 110090339 110090339 single base substitution C T intron_variant MELA-AU 2 110091145 110091145 single base substitution T C intron_variant MELA-AU 2 110092228 110092228 single base substitution C T intron_variant MELA-AU 2 110092833 110092833 single base substitution C T intron_variant MELA-AU 2 110093115 110093115 single base substitution C T intron_variant MELA-AU 2 110093770 110093770 single base substitution C T intron_variant MELA-AU 2 110093797 110093797 single base substitution A T intron_variant MELA-AU 2 110093835 110093835 single base substitution C T intron_variant MELA-AU 2 110093872 110093872 single base substitution C T intron_variant MELA-AU 2 110093939 110093939 single base substitution C T intron_variant MELA-AU 2 110094511 110094511 single base substitution G A intron_variant MELA-AU 2 110094525 110094526 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 110094545 110094545 single base substitution G A intron_variant MELA-AU 2 110094696 110094696 single base substitution C T intron_variant MELA-AU 2 110095214 110095214 single base substitution T C intron_variant MELA-AU 2 110095529 110095529 single base substitution T G intron_variant MELA-AU 2 110095703 110095703 single base substitution G A intron_variant MELA-AU 2 110095875 110095875 single base substitution C T intron_variant MELA-AU 2 110095896 110095896 single base substitution A T intron_variant MELA-AU 2 110095922 110095922 single base substitution C T intron_variant MELA-AU 2 110096633 110096633 single base substitution G A intron_variant MELA-AU 2 110096782 110096782 single base substitution C T intron_variant MELA-AU 2 110097082 110097083 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 110097434 110097434 single base substitution C T intron_variant MELA-AU 2 110097765 110097766 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 110097944 110097945 multiple base substitution (>=2bp and <=200bp) TG CT intron_variant MELA-AU 2 110098363 110098363 single base substitution G A intron_variant MELA-AU 2 110099045 110099045 single base substitution C T intron_variant MELA-AU 2 110099145 110099146 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 110099633 110099633 single base substitution C T intron_variant MELA-AU 2 110099955 110099955 single base substitution C T intron_variant MELA-AU 2 110100210 110100210 single base substitution G C intron_variant MELA-AU 2 110100565 110100565 single base substitution C T intron_variant MELA-AU 2 110100765 110100765 single base substitution C T intron_variant MELA-AU 2 110101457 110101458 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 110101540 110101540 single base substitution G A intron_variant MELA-AU 2 110101640 110101640 single base substitution T C intron_variant MELA-AU 2 110101844 110101844 single base substitution C T intron_variant MELA-AU 2 110101994 110101994 single base substitution C T intron_variant MELA-AU 2 110102191 110102191 single base substitution A T intron_variant MELA-AU 2 110102570 110102570 single base substitution C T intron_variant MELA-AU 2 110102932 110102932 single base substitution C T intron_variant MELA-AU 2 110103369 110103369 single base substitution C T intron_variant MELA-AU 2 110103456 110103456 single base substitution T G intron_variant MELA-AU 2 110103830 110103831 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 110103865 110103865 single base substitution G T intron_variant MELA-AU 2 110104033 110104033 single base substitution C T intron_variant MELA-AU 2 110104382 110104382 single base substitution C T intron_variant MELA-AU 2 110104482 110104482 single base substitution C T intron_variant MELA-AU 2 110104646 110104647 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 110104842 110104842 single base substitution C T intron_variant MELA-AU 2 110104960 110104960 single base substitution C T intron_variant MELA-AU 2 110106715 110106715 single base substitution C T intron_variant MELA-AU 2 110107365 110107365 single base substitution C T missense_variant P818L 2453C>T MELA-AU 2 110107489 110107489 single base substitution G A intron_variant MELA-AU 2 110107591 110107591 single base substitution C T intron_variant MELA-AU 2 110107744 110107744 single base substitution C T intron_variant MELA-AU 2 110108258 110108258 single base substitution C T intron_variant MELA-AU 2 110108290 110108290 single base substitution C T intron_variant MELA-AU 2 110108414 110108414 single base substitution T C intron_variant MELA-AU 2 110108612 110108612 single base substitution C T intron_variant MELA-AU 2 110108641 110108641 single base substitution C T intron_variant MELA-AU 2 110109126 110109126 single base substitution C T intron_variant MELA-AU 2 110251536 110251536 single base substitution G A intron_variant MELA-AU 2 110251761 110251761 single base substitution C T intron_variant MELA-AU 2 110252066 110252066 single base substitution G A intron_variant MELA-AU 2 110252377 110252377 single base substitution C T intron_variant MELA-AU 2 110252527 110252527 single base substitution C T intron_variant MELA-AU 2 110252873 110252873 single base substitution C T intron_variant MELA-AU 2 110253563 110253563 single base substitution A C intron_variant MELA-AU 2 110253716 110253716 single base substitution C T intron_variant MELA-AU 2 110254155 110254155 single base substitution C T intron_variant MELA-AU 2 110254155 110254155 single base substitution C T upstream_gene_variant MELA-AU 2 110254262 110254262 single base substitution G A intron_variant MELA-AU 2 110254262 110254262 single base substitution G A upstream_gene_variant MELA-AU 2 110255015 110255015 single base substitution T C intron_variant MELA-AU 2 110255015 110255015 single base substitution T C upstream_gene_variant MELA-AU 2 110255732 110255732 single base substitution C T intron_variant MELA-AU 2 110255732 110255732 single base substitution C T upstream_gene_variant MELA-AU 2 110255798 110255798 single base substitution C T intron_variant MELA-AU 2 110255798 110255798 single base substitution C T upstream_gene_variant MELA-AU 2 110255886 110255887 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 110255886 110255887 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 110256038 110256038 single base substitution C T intron_variant MELA-AU 2 110256038 110256038 single base substitution C T upstream_gene_variant MELA-AU 2 110256211 110256211 single base substitution C T intron_variant MELA-AU 2 110256211 110256211 single base substitution C T upstream_gene_variant MELA-AU 2 110256225 110256225 single base substitution C T intron_variant MELA-AU 2 110256225 110256225 single base substitution C T upstream_gene_variant MELA-AU 2 110256457 110256457 single base substitution G A intron_variant MELA-AU 2 110256457 110256457 single base substitution G A upstream_gene_variant MELA-AU 2 110256596 110256596 single base substitution C T intron_variant MELA-AU 2 110256596 110256596 single base substitution C T upstream_gene_variant MELA-AU 2 110256673 110256673 single base substitution C T intron_variant MELA-AU 2 110256673 110256673 single base substitution C T upstream_gene_variant MELA-AU 2 110256747 110256747 single base substitution G A intron_variant MELA-AU 2 110256747 110256747 single base substitution G A upstream_gene_variant MELA-AU 2 110256813 110256813 single base substitution G A intron_variant MELA-AU 2 110256813 110256813 single base substitution G A upstream_gene_variant MELA-AU 2 110256926 110256926 single base substitution T G intron_variant MELA-AU 2 110256926 110256926 single base substitution T G upstream_gene_variant MELA-AU 2 110256967 110256967 single base substitution C T intron_variant MELA-AU 2 110256967 110256967 single base substitution C T upstream_gene_variant MELA-AU 2 110257139 110257139 single base substitution G A intron_variant MELA-AU 2 110257139 110257139 single base substitution G A upstream_gene_variant MELA-AU 2 110257382 110257383 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 110257382 110257383 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 110257818 110257818 single base substitution C T intron_variant MELA-AU 2 110257818 110257818 single base substitution C T upstream_gene_variant MELA-AU 2 110257931 110257931 single base substitution C T intron_variant MELA-AU 2 110257931 110257931 single base substitution C T upstream_gene_variant MELA-AU 2 110258267 110258267 single base substitution C T intron_variant MELA-AU 2 110258267 110258267 single base substitution C T upstream_gene_variant MELA-AU 2 110258633 110258633 single base substitution G A intron_variant MELA-AU 2 110258633 110258633 single base substitution G A upstream_gene_variant MELA-AU 2 110258876 110258876 single base substitution G A intron_variant MELA-AU 2 110258876 110258876 single base substitution G A upstream_gene_variant MELA-AU 2 110259125 110259125 single base substitution C T synonymous_variant I15I 45C>T MELA-AU 2 110259125 110259125 single base substitution C T synonymous_variant I842I 2526C>T MELA-AU 2 110259192 110259192 single base substitution C T synonymous_variant L38L 112C>T MELA-AU 2 110259192 110259192 single base substitution C T synonymous_variant L865L 2593C>T MELA-AU 2 110259337 110259337 single base substitution G A 3_prime_UTR_variant MELA-AU 2 110259337 110259337 single base substitution G A downstream_gene_variant MELA-AU 2 110260073 110260073 single base substitution C T 3_prime_UTR_variant MELA-AU 2 110260073 110260073 single base substitution C T downstream_gene_variant MELA-AU 2 110261279 110261279 single base substitution C T 3_prime_UTR_variant MELA-AU 2 110261279 110261279 single base substitution C T downstream_gene_variant MELA-AU 2 110261438 110261438 single base substitution G A 3_prime_UTR_variant MELA-AU 2 110261438 110261438 single base substitution G A downstream_gene_variant MELA-AU 2 110261785 110261785 single base substitution C T 3_prime_UTR_variant MELA-AU 2 110261785 110261785 single base substitution C T downstream_gene_variant MELA-AU 2 110262133 110262133 single base substitution G A 3_prime_UTR_variant MELA-AU 2 110262133 110262133 single base substitution G A downstream_gene_variant MELA-AU 2 110262661 110262661 single base substitution C T downstream_gene_variant MELA-AU 2 110262812 110262812 single base substitution G A downstream_gene_variant MELA-AU 2 110263906 110263906 single base substitution C T downstream_gene_variant MELA-AU 2 110264049 110264049 single base substitution G A downstream_gene_variant MELA-AU 2 110264165 110264165 single base substitution G A downstream_gene_variant MELA-AU 2 110264912 110264912 single base substitution G A downstream_gene_variant MELA-AU 2 110265426 110265426 single base substitution C T downstream_gene_variant MELA-AU 2 110265664 110265664 single base substitution C T downstream_gene_variant MELA-AU 2 110265817 110265817 single base substitution C T downstream_gene_variant MELA-AU 2 110265840 110265840 single base substitution G A downstream_gene_variant MELA-AU 2 110266249 110266249 single base substitution G A downstream_gene_variant MELA-AU 2 110266629 110266630 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 110266800 110266800 single base substitution C T downstream_gene_variant ORCA-IN 2 109754579 109754579 single base substitution C A intron_variant ORCA-IN 2 109777247 109777247 single base substitution G A intron_variant ORCA-IN 2 109784344 109784344 single base substitution C T intron_variant ORCA-IN 2 109792219 109792219 single base substitution T A intron_variant ORCA-IN 2 109800246 109800246 single base substitution G A intron_variant ORCA-IN 2 109847858 109847858 single base substitution G C intron_variant ORCA-IN 2 109851867 109851867 single base substitution G A intron_variant ORCA-IN 2 109854222 109854222 single base substitution A G intron_variant ORCA-IN 2 109862254 109862254 single base substitution C T intron_variant ORCA-IN 2 109865358 109865358 single base substitution G T intron_variant ORCA-IN 2 109865386 109865386 single base substitution C T intron_variant ORCA-IN 2 109916826 109916826 single base substitution G A intron_variant ORCA-IN 2 109920823 109920823 single base substitution C T intron_variant ORCA-IN 2 109949348 109949348 single base substitution G A intron_variant ORCA-IN 2 109967053 109967053 single base substitution C T intron_variant ORCA-IN 2 109978937 109978937 single base substitution G C intron_variant ORCA-IN 2 110002362 110002362 single base substitution T A intron_variant ORCA-IN 2 110017150 110017150 single base substitution C T intron_variant ORCA-IN 2 110022939 110022939 single base substitution C T intron_variant ORCA-IN 2 110032327 110032327 single base substitution G A intron_variant ORCA-IN 2 110047758 110047758 single base substitution C G intron_variant ORCA-IN 2 110066379 110066379 single base substitution C A downstream_gene_variant ORCA-IN 2 110066379 110066379 single base substitution C A intron_variant ORCA-IN 2 110068519 110068519 single base substitution C T downstream_gene_variant ORCA-IN 2 110068519 110068519 single base substitution C T intron_variant ORCA-IN 2 110108552 110108552 single base substitution C T intron_variant ORCA-IN 2 110257548 110257548 single base substitution C T intron_variant ORCA-IN 2 110257548 110257548 single base substitution C T upstream_gene_variant OV-AU 2 109741674 109741674 single base substitution T A upstream_gene_variant OV-AU 2 109742047 109742047 single base substitution C A upstream_gene_variant OV-AU 2 109743565 109743565 single base substitution C T upstream_gene_variant OV-AU 2 109745130 109745130 single base substitution G C upstream_gene_variant OV-AU 2 109760613 109760613 single base substitution T C intron_variant OV-AU 2 109762553 109762553 single base substitution T A intron_variant OV-AU 2 109769722 109769722 single base substitution G A intron_variant OV-AU 2 109771451 109771451 single base substitution T C intron_variant OV-AU 2 109774136 109774136 single base substitution G C intron_variant OV-AU 2 109780677 109780677 single base substitution C G intron_variant OV-AU 2 109783283 109783283 single base substitution A C intron_variant OV-AU 2 109784909 109784909 single base substitution G T intron_variant OV-AU 2 109787055 109787055 single base substitution C G intron_variant OV-AU 2 109787234 109787234 single base substitution C T intron_variant OV-AU 2 109787366 109787366 single base substitution T G intron_variant OV-AU 2 109789854 109789854 single base substitution G C intron_variant OV-AU 2 109792646 109792646 single base substitution G A intron_variant OV-AU 2 109796808 109796808 single base substitution A C intron_variant OV-AU 2 109801799 109801799 single base substitution A C intron_variant OV-AU 2 109804110 109804110 single base substitution T C intron_variant OV-AU 2 109814036 109814036 single base substitution T C intron_variant OV-AU 2 109814878 109814878 single base substitution G A intron_variant OV-AU 2 109815437 109815437 single base substitution G A intron_variant OV-AU 2 109818963 109818963 single base substitution C A intron_variant OV-AU 2 109822349 109822349 single base substitution C A intron_variant OV-AU 2 109822350 109822350 single base substitution T A intron_variant OV-AU 2 109823143 109823143 single base substitution A T intron_variant OV-AU 2 109826657 109826657 single base substitution A G intron_variant OV-AU 2 109833797 109833797 single base substitution G T intron_variant OV-AU 2 109835075 109835075 single base substitution C G intron_variant OV-AU 2 109843672 109843672 single base substitution C A intron_variant OV-AU 2 109853615 109853615 single base substitution A G intron_variant OV-AU 2 109864598 109864598 single base substitution G T intron_variant OV-AU 2 109871611 109871611 single base substitution C T intron_variant OV-AU 2 109872536 109872536 single base substitution A G intron_variant OV-AU 2 109872710 109872710 single base substitution G A intron_variant OV-AU 2 109873512 109873512 single base substitution T A intron_variant OV-AU 2 109875867 109875867 single base substitution T C intron_variant OV-AU 2 109876024 109876024 single base substitution T C intron_variant OV-AU 2 109877010 109877010 single base substitution T G intron_variant OV-AU 2 109879359 109879359 single base substitution G A intron_variant OV-AU 2 109879993 109879993 single base substitution C T intron_variant OV-AU 2 109896169 109896169 single base substitution C T intron_variant OV-AU 2 109897732 109897732 single base substitution T C intron_variant OV-AU 2 109907208 109907208 single base substitution C A intron_variant OV-AU 2 109907892 109907892 single base substitution G T intron_variant OV-AU 2 109909096 109909096 single base substitution T C intron_variant OV-AU 2 109909715 109909715 single base substitution G T intron_variant OV-AU 2 109910321 109910321 single base substitution C T intron_variant OV-AU 2 109911903 109911903 single base substitution G A intron_variant OV-AU 2 109912219 109912219 single base substitution G C intron_variant OV-AU 2 109915077 109915077 single base substitution C G intron_variant OV-AU 2 109925927 109925927 single base substitution A C intron_variant OV-AU 2 109929130 109929130 single base substitution C T intron_variant OV-AU 2 109932031 109932031 single base substitution C T intron_variant OV-AU 2 109933043 109933043 single base substitution G T intron_variant OV-AU 2 109935900 109935900 single base substitution A G intron_variant OV-AU 2 109936154 109936154 single base substitution C A intron_variant OV-AU 2 109939876 109939876 single base substitution A G intron_variant OV-AU 2 109940779 109940779 single base substitution C A intron_variant OV-AU 2 109946315 109946315 single base substitution T G intron_variant OV-AU 2 109947760 109947760 single base substitution G C intron_variant OV-AU 2 109948285 109948285 single base substitution G T intron_variant OV-AU 2 109948582 109948582 single base substitution T A intron_variant OV-AU 2 109954227 109954227 single base substitution A T intron_variant OV-AU 2 109956210 109956210 single base substitution A T intron_variant OV-AU 2 109956755 109956755 single base substitution C T intron_variant OV-AU 2 109959246 109959246 single base substitution G A intron_variant OV-AU 2 109964171 109964171 single base substitution C T synonymous_variant Y205Y 615C>T OV-AU 2 109967984 109967984 single base substitution T C intron_variant OV-AU 2 109968601 109968601 single base substitution G C intron_variant OV-AU 2 109970691 109970691 single base substitution G A intron_variant OV-AU 2 109982089 109982089 single base substitution C T intron_variant OV-AU 2 109984920 109984920 single base substitution G C intron_variant OV-AU 2 109986699 109986699 single base substitution T C intron_variant OV-AU 2 109988683 109988683 single base substitution C G intron_variant OV-AU 2 109991239 109991239 single base substitution G A intron_variant OV-AU 2 109993207 109993207 single base substitution G C intron_variant OV-AU 2 109996012 109996012 single base substitution C T intron_variant OV-AU 2 110000958 110000958 single base substitution G A intron_variant OV-AU 2 110003175 110003175 single base substitution C A intron_variant OV-AU 2 110008356 110008356 single base substitution C T intron_variant OV-AU 2 110013260 110013260 single base substitution G A intron_variant OV-AU 2 110014244 110014244 single base substitution G A intron_variant OV-AU 2 110017891 110017891 single base substitution C G intron_variant OV-AU 2 110021023 110021023 single base substitution G T intron_variant OV-AU 2 110023715 110023715 single base substitution G A intron_variant OV-AU 2 110030633 110030633 single base substitution C T intron_variant OV-AU 2 110033144 110033144 single base substitution C G intron_variant OV-AU 2 110034308 110034308 single base substitution G T intron_variant OV-AU 2 110036115 110036115 single base substitution G T intron_variant OV-AU 2 110036539 110036539 single base substitution A T intron_variant OV-AU 2 110037581 110037581 single base substitution G A intron_variant OV-AU 2 110041139 110041139 single base substitution G T intron_variant OV-AU 2 110053509 110053509 single base substitution G A missense_variant A579T 1735G>A OV-AU 2 110054923 110054923 single base substitution C T intron_variant OV-AU 2 110061516 110061516 single base substitution T A intron_variant OV-AU 2 110061517 110061517 single base substitution G A intron_variant OV-AU 2 110061518 110061518 single base substitution T A intron_variant OV-AU 2 110071689 110071689 single base substitution T A intron_variant OV-AU 2 110072166 110072166 single base substitution A G intron_variant OV-AU 2 110072953 110072953 single base substitution G A intron_variant OV-AU 2 110084240 110084240 single base substitution G A intron_variant OV-AU 2 110087052 110087052 single base substitution G A intron_variant OV-AU 2 110087184 110087184 single base substitution T G intron_variant OV-AU 2 110095585 110095585 single base substitution C G intron_variant OV-AU 2 110103097 110103097 single base substitution G A intron_variant OV-AU 2 110251694 110251694 single base substitution C A intron_variant OV-AU 2 110254345 110254345 single base substitution C A intron_variant OV-AU 2 110254345 110254345 single base substitution C A upstream_gene_variant OV-US 2 109964171 109964171 single base substitution C T synonymous_variant Y205Y 615C>T PACA-AU 2 109744705 109744705 single base substitution C T upstream_gene_variant PACA-AU 2 109745192 109745192 single base substitution A T upstream_gene_variant PACA-AU 2 109746693 109746693 single base substitution C A intron_variant PACA-AU 2 109747715 109747715 single base substitution T C intron_variant PACA-AU 2 109748321 109748321 single base substitution C T intron_variant PACA-AU 2 109752129 109752129 single base substitution G T intron_variant PACA-AU 2 109757031 109757031 single base substitution G T intron_variant PACA-AU 2 109758652 109758652 single base substitution T A intron_variant PACA-AU 2 109760210 109760210 insertion of <=200bp - AAACA intron_variant PACA-AU 2 109760871 109760871 single base substitution A G intron_variant PACA-AU 2 109761195 109761195 single base substitution C G intron_variant PACA-AU 2 109762373 109762373 single base substitution G A intron_variant PACA-AU 2 109774792 109774792 single base substitution A G intron_variant PACA-AU 2 109779195 109779195 single base substitution C G intron_variant PACA-AU 2 109781163 109781163 single base substitution G A intron_variant PACA-AU 2 109781332 109781332 single base substitution G C intron_variant PACA-AU 2 109785021 109785021 single base substitution T C intron_variant PACA-AU 2 109786741 109786741 single base substitution T C intron_variant PACA-AU 2 109786757 109786757 single base substitution T C intron_variant PACA-AU 2 109796271 109796271 single base substitution A G intron_variant PACA-AU 2 109798139 109798139 deletion of <=200bp G - intron_variant PACA-AU 2 109798763 109798763 single base substitution G A intron_variant PACA-AU 2 109799069 109799069 single base substitution G A intron_variant PACA-AU 2 109799503 109799503 single base substitution G A intron_variant PACA-AU 2 109804449 109804449 single base substitution C T intron_variant PACA-AU 2 109812671 109812671 single base substitution C G intron_variant PACA-AU 2 109813070 109813070 single base substitution G A intron_variant PACA-AU 2 109815142 109815142 single base substitution C T intron_variant PACA-AU 2 109815843 109815843 single base substitution A T intron_variant PACA-AU 2 109816732 109816732 single base substitution C A intron_variant PACA-AU 2 109818767 109818767 single base substitution G A intron_variant PACA-AU 2 109822094 109822094 single base substitution A T intron_variant PACA-AU 2 109822792 109822792 single base substitution C T intron_variant PACA-AU 2 109823091 109823091 single base substitution C T intron_variant PACA-AU 2 109825529 109825529 single base substitution G A intron_variant PACA-AU 2 109827423 109827423 single base substitution G A intron_variant PACA-AU 2 109829427 109829427 single base substitution C G intron_variant PACA-AU 2 109837381 109837381 deletion of <=200bp C - intron_variant PACA-AU 2 109840024 109840024 single base substitution C A intron_variant PACA-AU 2 109840462 109840462 single base substitution A G intron_variant PACA-AU 2 109841865 109841865 single base substitution G A intron_variant PACA-AU 2 109851252 109851253 deletion of <=200bp CC - intron_variant PACA-AU 2 109853196 109853196 single base substitution T G intron_variant PACA-AU 2 109856875 109856875 single base substitution C T intron_variant PACA-AU 2 109858054 109858054 single base substitution T A intron_variant PACA-AU 2 109859446 109859446 single base substitution C T intron_variant PACA-AU 2 109863900 109863900 single base substitution G C intron_variant PACA-AU 2 109864183 109864183 single base substitution G C intron_variant PACA-AU 2 109864851 109864851 single base substitution C A intron_variant PACA-AU 2 109866004 109866004 single base substitution C T intron_variant PACA-AU 2 109866996 109866996 single base substitution G A intron_variant PACA-AU 2 109867541 109867541 single base substitution T A intron_variant PACA-AU 2 109870487 109870487 single base substitution A G intron_variant PACA-AU 2 109874595 109874595 single base substitution T C intron_variant PACA-AU 2 109877785 109877785 single base substitution T G intron_variant PACA-AU 2 109889085 109889085 single base substitution C T intron_variant PACA-AU 2 109890052 109890052 single base substitution T C intron_variant PACA-AU 2 109893656 109893656 single base substitution G A intron_variant PACA-AU 2 109899751 109899751 single base substitution C A intron_variant PACA-AU 2 109904252 109904252 single base substitution G A intron_variant PACA-AU 2 109910669 109910669 single base substitution G T intron_variant PACA-AU 2 109918541 109918541 single base substitution T C intron_variant PACA-AU 2 109919326 109919326 single base substitution A G intron_variant PACA-AU 2 109922486 109922486 single base substitution G A intron_variant PACA-AU 2 109928349 109928349 single base substitution C T intron_variant PACA-AU 2 109929156 109929156 single base substitution A T intron_variant PACA-AU 2 109929884 109929884 single base substitution G T intron_variant PACA-AU 2 109937416 109937416 insertion of <=200bp - T intron_variant PACA-AU 2 109939494 109939494 single base substitution C T intron_variant PACA-AU 2 109944376 109944376 single base substitution A G intron_variant PACA-AU 2 109945838 109945838 single base substitution G C intron_variant PACA-AU 2 109949886 109949886 single base substitution G C intron_variant PACA-AU 2 109951244 109951244 single base substitution T C intron_variant PACA-AU 2 109951453 109951453 single base substitution C T intron_variant PACA-AU 2 109951700 109951700 single base substitution G A intron_variant PACA-AU 2 109952754 109952754 deletion of <=200bp C - intron_variant PACA-AU 2 109953025 109953025 single base substitution T G intron_variant PACA-AU 2 109954538 109954538 single base substitution G A intron_variant PACA-AU 2 109955737 109955737 single base substitution G T intron_variant PACA-AU 2 109958698 109958698 single base substitution G A intron_variant PACA-AU 2 109960834 109960834 single base substitution T G intron_variant PACA-AU 2 109962443 109962443 single base substitution C T intron_variant PACA-AU 2 109972719 109972719 single base substitution T A intron_variant PACA-AU 2 109973543 109973543 single base substitution A G intron_variant PACA-AU 2 109975558 109975558 single base substitution T C intron_variant PACA-AU 2 109975654 109975654 single base substitution G A intron_variant PACA-AU 2 109981405 109981405 single base substitution G A intron_variant PACA-AU 2 109983399 109983399 single base substitution C A intron_variant PACA-AU 2 109983671 109983671 single base substitution C T intron_variant PACA-AU 2 109986079 109986079 insertion of <=200bp - C intron_variant PACA-AU 2 109986621 109986621 single base substitution G A intron_variant PACA-AU 2 109997088 109997088 single base substitution C T intron_variant PACA-AU 2 109998859 109998859 single base substitution C T intron_variant PACA-AU 2 110003561 110003561 single base substitution C T intron_variant PACA-AU 2 110007564 110007564 single base substitution G A intron_variant PACA-AU 2 110015235 110015235 single base substitution C T missense_variant R379C 1135C>T PACA-AU 2 110015364 110015364 single base substitution G C missense_variant D422H 1264G>C PACA-AU 2 110015493 110015493 single base substitution G T intron_variant PACA-AU 2 110016179 110016179 single base substitution G A intron_variant PACA-AU 2 110016414 110016414 single base substitution G A intron_variant PACA-AU 2 110018388 110018388 single base substitution C T intron_variant PACA-AU 2 110018521 110018521 single base substitution G A intron_variant PACA-AU 2 110020377 110020377 single base substitution C T intron_variant PACA-AU 2 110024347 110024347 single base substitution T C intron_variant PACA-AU 2 110025385 110025385 single base substitution G A intron_variant PACA-AU 2 110035270 110035270 single base substitution C T intron_variant PACA-AU 2 110036880 110036880 single base substitution G T intron_variant PACA-AU 2 110045521 110045521 single base substitution C A intron_variant PACA-AU 2 110046406 110046406 single base substitution C T intron_variant PACA-AU 2 110047462 110047462 single base substitution G C intron_variant PACA-AU 2 110048175 110048175 single base substitution A C intron_variant PACA-AU 2 110048952 110048952 single base substitution C T splice_region_variant PACA-AU 2 110049120 110049120 single base substitution G A missense_variant V523I 1567G>A PACA-AU 2 110050631 110050631 single base substitution A G intron_variant PACA-AU 2 110050799 110050799 single base substitution C T intron_variant PACA-AU 2 110056810 110056810 single base substitution C T intron_variant PACA-AU 2 110058549 110058549 single base substitution C T intron_variant PACA-AU 2 110059072 110059072 single base substitution C T intron_variant PACA-AU 2 110061152 110061152 single base substitution G A intron_variant PACA-AU 2 110070268 110070268 single base substitution G T downstream_gene_variant PACA-AU 2 110070268 110070268 single base substitution G T intron_variant PACA-AU 2 110079805 110079805 single base substitution A T intron_variant PACA-AU 2 110080895 110080895 single base substitution G A intron_variant PACA-AU 2 110086806 110086806 single base substitution A T intron_variant PACA-AU 2 110098103 110098103 single base substitution C A intron_variant PACA-AU 2 110102678 110102678 single base substitution C T intron_variant PACA-AU 2 110103026 110103026 single base substitution C T intron_variant PACA-AU 2 110108481 110108481 single base substitution C G intron_variant PACA-AU 2 110257070 110257070 single base substitution G T intron_variant PACA-AU 2 110257070 110257070 single base substitution G T upstream_gene_variant PACA-AU 2 110258720 110258720 single base substitution C T intron_variant PACA-AU 2 110258720 110258720 single base substitution C T upstream_gene_variant PACA-AU 2 110260008 110260008 single base substitution G C 3_prime_UTR_variant PACA-AU 2 110260008 110260008 single base substitution G C downstream_gene_variant PACA-AU 2 110260220 110260220 single base substitution G A 3_prime_UTR_variant PACA-AU 2 110260220 110260220 single base substitution G A downstream_gene_variant PACA-AU 2 110260807 110260807 single base substitution A G 3_prime_UTR_variant PACA-AU 2 110260807 110260807 single base substitution A G downstream_gene_variant PACA-AU 2 110264948 110264948 single base substitution C T downstream_gene_variant PACA-CA 2 109749505 109749505 single base substitution A T intron_variant PACA-CA 2 109751137 109751137 single base substitution G T intron_variant PACA-CA 2 109752291 109752291 single base substitution C T intron_variant PACA-CA 2 109757879 109757879 single base substitution C T intron_variant PACA-CA 2 109766206 109766206 single base substitution C T intron_variant PACA-CA 2 109766279 109766279 single base substitution C T intron_variant PACA-CA 2 109769707 109769707 single base substitution C T intron_variant PACA-CA 2 109770240 109770240 single base substitution G A intron_variant PACA-CA 2 109771328 109771328 single base substitution C T intron_variant PACA-CA 2 109772353 109772353 single base substitution T C intron_variant PACA-CA 2 109772839 109772839 single base substitution C T intron_variant PACA-CA 2 109774485 109774485 single base substitution C A intron_variant PACA-CA 2 109775258 109775258 single base substitution C G intron_variant PACA-CA 2 109777637 109777637 single base substitution G A intron_variant PACA-CA 2 109778202 109778202 single base substitution C A intron_variant PACA-CA 2 109778427 109778427 single base substitution G A intron_variant PACA-CA 2 109778748 109778748 single base substitution C T intron_variant PACA-CA 2 109779423 109779423 single base substitution G T intron_variant PACA-CA 2 109782337 109782337 single base substitution G A intron_variant PACA-CA 2 109785769 109785769 single base substitution C T intron_variant PACA-CA 2 109786162 109786162 single base substitution A C intron_variant PACA-CA 2 109786720 109786720 single base substitution C T intron_variant PACA-CA 2 109786731 109786731 insertion of <=200bp - C intron_variant PACA-CA 2 109786736 109786736 deletion of <=200bp T - intron_variant PACA-CA 2 109786746 109786746 deletion of <=200bp T - intron_variant PACA-CA 2 109788182 109788182 single base substitution G A intron_variant PACA-CA 2 109788483 109788483 single base substitution T A intron_variant PACA-CA 2 109790287 109790287 single base substitution G A intron_variant PACA-CA 2 109790678 109790678 single base substitution G A intron_variant PACA-CA 2 109795830 109795830 single base substitution T C intron_variant PACA-CA 2 109801445 109801445 single base substitution T C intron_variant PACA-CA 2 109803879 109803879 single base substitution T C intron_variant PACA-CA 2 109804337 109804337 single base substitution C T intron_variant PACA-CA 2 109804535 109804535 single base substitution G A intron_variant PACA-CA 2 109804822 109804822 single base substitution C A intron_variant PACA-CA 2 109805697 109805697 single base substitution C T intron_variant PACA-CA 2 109805894 109805894 single base substitution G A intron_variant PACA-CA 2 109806926 109806926 single base substitution G T intron_variant PACA-CA 2 109809040 109809040 single base substitution C T intron_variant PACA-CA 2 109811835 109811835 single base substitution G A intron_variant PACA-CA 2 109814667 109814667 single base substitution A G intron_variant PACA-CA 2 109818599 109818599 single base substitution G A intron_variant PACA-CA 2 109819286 109819286 single base substitution G A intron_variant PACA-CA 2 109819428 109819428 single base substitution G C intron_variant PACA-CA 2 109819582 109819582 single base substitution C T intron_variant PACA-CA 2 109821606 109821606 single base substitution T C intron_variant PACA-CA 2 109822253 109822253 single base substitution A G intron_variant PACA-CA 2 109826100 109826100 deletion of <=200bp A - intron_variant PACA-CA 2 109826345 109826345 single base substitution A T intron_variant PACA-CA 2 109833985 109833985 single base substitution C T intron_variant PACA-CA 2 109835516 109835516 single base substitution G A intron_variant PACA-CA 2 109836865 109836865 insertion of <=200bp - A intron_variant PACA-CA 2 109839533 109839533 single base substitution G A intron_variant PACA-CA 2 109841319 109841319 single base substitution A T intron_variant PACA-CA 2 109842705 109842705 deletion of <=200bp T - intron_variant PACA-CA 2 109846795 109846795 single base substitution G A intron_variant PACA-CA 2 109847313 109847313 single base substitution T C intron_variant PACA-CA 2 109848845 109848848 deletion of <=200bp ACTA - intron_variant PACA-CA 2 109849783 109849783 single base substitution G A intron_variant PACA-CA 2 109855444 109855444 single base substitution T C intron_variant PACA-CA 2 109855974 109855974 single base substitution G C intron_variant PACA-CA 2 109856876 109856876 single base substitution G A intron_variant PACA-CA 2 109857057 109857057 single base substitution A T intron_variant PACA-CA 2 109857142 109857142 single base substitution G A intron_variant PACA-CA 2 109860603 109860603 insertion of <=200bp - T intron_variant PACA-CA 2 109862318 109862318 single base substitution T G intron_variant PACA-CA 2 109866420 109866420 single base substitution G A intron_variant PACA-CA 2 109867954 109867954 single base substitution A C intron_variant PACA-CA 2 109878983 109878983 single base substitution G A intron_variant PACA-CA 2 109879593 109879593 single base substitution C T intron_variant PACA-CA 2 109880774 109880774 single base substitution G A intron_variant PACA-CA 2 109881503 109881503 single base substitution G A intron_variant PACA-CA 2 109881602 109881602 single base substitution T C intron_variant PACA-CA 2 109881623 109881623 single base substitution C T intron_variant PACA-CA 2 109883010 109883010 single base substitution G A intron_variant PACA-CA 2 109885226 109885226 single base substitution A T intron_variant PACA-CA 2 109886081 109886081 deletion of <=200bp A - intron_variant PACA-CA 2 109890228 109890228 single base substitution G A intron_variant PACA-CA 2 109891164 109891164 single base substitution G T intron_variant PACA-CA 2 109892597 109892597 single base substitution C T intron_variant PACA-CA 2 109893383 109893383 single base substitution G A intron_variant PACA-CA 2 109893858 109893858 single base substitution A T intron_variant PACA-CA 2 109895233 109895233 single base substitution T C intron_variant PACA-CA 2 109896885 109896885 single base substitution C T intron_variant PACA-CA 2 109900109 109900109 single base substitution C T intron_variant PACA-CA 2 109902055 109902055 single base substitution C T intron_variant PACA-CA 2 109906480 109906480 single base substitution G A intron_variant PACA-CA 2 109910108 109910108 single base substitution C T intron_variant PACA-CA 2 109914165 109914165 deletion of <=200bp C - intron_variant PACA-CA 2 109914173 109914173 single base substitution C A intron_variant PACA-CA 2 109914403 109914403 single base substitution G A intron_variant PACA-CA 2 109915221 109915221 insertion of <=200bp - C intron_variant PACA-CA 2 109919161 109919161 single base substitution G A intron_variant PACA-CA 2 109919622 109919622 single base substitution G A intron_variant PACA-CA 2 109923513 109923513 single base substitution G T intron_variant PACA-CA 2 109928219 109928219 single base substitution C T intron_variant PACA-CA 2 109928626 109928626 single base substitution A T intron_variant PACA-CA 2 109930217 109930217 single base substitution C T intron_variant PACA-CA 2 109930874 109930874 single base substitution C T intron_variant PACA-CA 2 109931617 109931617 single base substitution A C intron_variant PACA-CA 2 109933378 109933378 single base substitution C A intron_variant PACA-CA 2 109937690 109937690 single base substitution C T intron_variant PACA-CA 2 109938138 109938138 single base substitution T C intron_variant PACA-CA 2 109938882 109938882 single base substitution G C intron_variant PACA-CA 2 109940460 109940460 single base substitution A G intron_variant PACA-CA 2 109943365 109943365 single base substitution C A intron_variant PACA-CA 2 109943763 109943763 single base substitution C T intron_variant PACA-CA 2 109945221 109945221 single base substitution G A intron_variant PACA-CA 2 109947943 109947943 single base substitution C T intron_variant PACA-CA 2 109951526 109951526 single base substitution G A intron_variant PACA-CA 2 109951719 109951719 single base substitution C T intron_variant PACA-CA 2 109953956 109953956 single base substitution G A intron_variant PACA-CA 2 109954546 109954546 single base substitution G A intron_variant PACA-CA 2 109955440 109955440 single base substitution C T intron_variant PACA-CA 2 109955607 109955607 single base substitution G A intron_variant PACA-CA 2 109955680 109955680 single base substitution G A intron_variant PACA-CA 2 109956439 109956439 single base substitution G T intron_variant PACA-CA 2 109956657 109956657 single base substitution C A intron_variant PACA-CA 2 109959497 109959497 single base substitution A G intron_variant PACA-CA 2 109962757 109962757 single base substitution G A intron_variant PACA-CA 2 109964134 109964134 single base substitution C A missense_variant P193H 578C>A PACA-CA 2 109965492 109965492 single base substitution T A intron_variant PACA-CA 2 109967123 109967123 single base substitution G A intron_variant PACA-CA 2 109969049 109969049 single base substitution G A intron_variant PACA-CA 2 109971789 109971789 single base substitution G A intron_variant PACA-CA 2 109972725 109972725 single base substitution C T intron_variant PACA-CA 2 109972726 109972726 single base substitution G A intron_variant PACA-CA 2 109976904 109976904 single base substitution T C intron_variant PACA-CA 2 109978671 109978671 single base substitution T C intron_variant PACA-CA 2 109979614 109979614 single base substitution G A intron_variant PACA-CA 2 109985454 109985454 single base substitution G A intron_variant PACA-CA 2 109987088 109987088 single base substitution G A intron_variant PACA-CA 2 109991080 109991080 single base substitution G A intron_variant PACA-CA 2 109994543 109994543 single base substitution G A intron_variant PACA-CA 2 109995435 109995435 single base substitution C T intron_variant PACA-CA 2 109996576 109996576 single base substitution C T intron_variant PACA-CA 2 109996759 109996759 single base substitution G T intron_variant PACA-CA 2 109999008 109999008 single base substitution C A intron_variant PACA-CA 2 110000280 110000280 single base substitution C T intron_variant PACA-CA 2 110001086 110001086 single base substitution C T intron_variant PACA-CA 2 110002338 110002338 single base substitution C T intron_variant PACA-CA 2 110002339 110002339 single base substitution G T intron_variant PACA-CA 2 110004517 110004517 single base substitution T C intron_variant PACA-CA 2 110005117 110005117 single base substitution C T intron_variant PACA-CA 2 110008919 110008919 single base substitution A G intron_variant PACA-CA 2 110009056 110009056 single base substitution C T intron_variant PACA-CA 2 110010620 110010620 single base substitution C T intron_variant PACA-CA 2 110011053 110011053 single base substitution A G intron_variant PACA-CA 2 110013558 110013558 single base substitution G A intron_variant PACA-CA 2 110014243 110014243 single base substitution G A intron_variant PACA-CA 2 110015189 110015189 single base substitution C G synonymous_variant V363V 1089C>G PACA-CA 2 110016103 110016103 single base substitution A T intron_variant PACA-CA 2 110018110 110018110 single base substitution G A intron_variant PACA-CA 2 110018521 110018521 single base substitution G A intron_variant PACA-CA 2 110019704 110019704 single base substitution G A intron_variant PACA-CA 2 110020382 110020382 single base substitution G A intron_variant PACA-CA 2 110021787 110021787 single base substitution G A intron_variant PACA-CA 2 110022976 110022976 single base substitution C T intron_variant PACA-CA 2 110025092 110025092 single base substitution G A intron_variant PACA-CA 2 110026458 110026458 single base substitution G A intron_variant PACA-CA 2 110026957 110026957 single base substitution G C intron_variant PACA-CA 2 110027939 110027939 single base substitution C T intron_variant PACA-CA 2 110028046 110028046 single base substitution G A intron_variant PACA-CA 2 110028229 110028229 single base substitution A G intron_variant PACA-CA 2 110028526 110028526 single base substitution C T intron_variant PACA-CA 2 110029044 110029044 single base substitution G A intron_variant PACA-CA 2 110029582 110029582 single base substitution A T intron_variant PACA-CA 2 110030957 110030957 single base substitution C T intron_variant PACA-CA 2 110032136 110032136 single base substitution C T intron_variant PACA-CA 2 110032559 110032559 single base substitution T C intron_variant PACA-CA 2 110032871 110032871 single base substitution C T intron_variant PACA-CA 2 110032989 110032989 single base substitution C T intron_variant PACA-CA 2 110034310 110034310 single base substitution C T intron_variant PACA-CA 2 110035223 110035223 single base substitution T A intron_variant PACA-CA 2 110036370 110036370 single base substitution G T intron_variant PACA-CA 2 110038362 110038362 single base substitution C T intron_variant PACA-CA 2 110040170 110040170 single base substitution C G intron_variant PACA-CA 2 110042440 110042440 single base substitution G A intron_variant PACA-CA 2 110042902 110042902 single base substitution G A intron_variant PACA-CA 2 110043080 110043080 single base substitution T C intron_variant PACA-CA 2 110053674 110053674 single base substitution T G intron_variant PACA-CA 2 110056198 110056198 single base substitution C T intron_variant PACA-CA 2 110058977 110058977 single base substitution A G intron_variant PACA-CA 2 110063521 110063521 single base substitution C G intron_variant PACA-CA 2 110063618 110063618 single base substitution A G intron_variant PACA-CA 2 110063819 110063819 single base substitution C T intron_variant PACA-CA 2 110065565 110065565 single base substitution G A intron_variant PACA-CA 2 110073876 110073876 single base substitution G A intron_variant PACA-CA 2 110074456 110074456 single base substitution G C intron_variant PACA-CA 2 110074484 110074484 insertion of <=200bp - T intron_variant PACA-CA 2 110077225 110077225 single base substitution A T intron_variant PACA-CA 2 110078160 110078160 single base substitution C T intron_variant PACA-CA 2 110079052 110079052 single base substitution A T intron_variant PACA-CA 2 110081914 110081914 single base substitution A T intron_variant PACA-CA 2 110084792 110084792 single base substitution G A intron_variant PACA-CA 2 110085378 110085378 single base substitution C T intron_variant PACA-CA 2 110087442 110087442 single base substitution G A intron_variant PACA-CA 2 110089189 110089189 single base substitution G C intron_variant PACA-CA 2 110090658 110090658 single base substitution C A intron_variant PACA-CA 2 110091001 110091001 single base substitution C T intron_variant PACA-CA 2 110091419 110091419 insertion of <=200bp - T intron_variant PACA-CA 2 110093010 110093010 single base substitution G T intron_variant PACA-CA 2 110093243 110093243 single base substitution T C intron_variant PACA-CA 2 110099687 110099687 single base substitution T A intron_variant PACA-CA 2 110101708 110101708 single base substitution C T intron_variant PACA-CA 2 110102279 110102279 single base substitution C T intron_variant PACA-CA 2 110106829 110106829 single base substitution G A intron_variant PACA-CA 2 110108296 110108296 single base substitution C T intron_variant PACA-CA 2 110251383 110251383 insertion of <=200bp - C intron_variant PACA-CA 2 110259408 110259408 single base substitution G A 3_prime_UTR_variant PACA-CA 2 110259408 110259408 single base substitution G A downstream_gene_variant PACA-CA 2 110259736 110259736 single base substitution C T 3_prime_UTR_variant PACA-CA 2 110259736 110259736 single base substitution C T downstream_gene_variant PACA-CA 2 110259825 110259825 single base substitution T C 3_prime_UTR_variant PACA-CA 2 110259825 110259825 single base substitution T C downstream_gene_variant PACA-CA 2 110260525 110260525 single base substitution G T 3_prime_UTR_variant PACA-CA 2 110260525 110260525 single base substitution G T downstream_gene_variant PACA-CA 2 110263102 110263102 single base substitution T A downstream_gene_variant PACA-CA 2 110264516 110264516 single base substitution A C downstream_gene_variant PACA-CA 2 110266646 110266646 single base substitution C T downstream_gene_variant PAEN-AU 2 109770573 109770573 single base substitution T C intron_variant PAEN-AU 2 109775865 109775865 single base substitution G A intron_variant PAEN-AU 2 109778627 109778627 single base substitution C T intron_variant PAEN-AU 2 109793837 109793837 single base substitution T C intron_variant PAEN-AU 2 109815884 109815884 single base substitution T C intron_variant PAEN-AU 2 109815904 109815904 single base substitution T G intron_variant PAEN-AU 2 109834134 109834134 single base substitution G A intron_variant PAEN-AU 2 109858140 109858140 single base substitution C A intron_variant PAEN-AU 2 110003185 110003185 single base substitution T A intron_variant PAEN-AU 2 110006051 110006051 single base substitution T C intron_variant PAEN-AU 2 110012743 110012743 single base substitution A C intron_variant PAEN-AU 2 110025605 110025605 single base substitution G A intron_variant PAEN-AU 2 110044804 110044804 single base substitution G T intron_variant PAEN-AU 2 110054322 110054322 single base substitution A T intron_variant PAEN-AU 2 110083251 110083251 single base substitution A G intron_variant PAEN-IT 2 109794664 109794664 single base substitution A G intron_variant PAEN-IT 2 109810929 109810929 single base substitution T C intron_variant PAEN-IT 2 109817078 109817078 single base substitution G T intron_variant PAEN-IT 2 109860180 109860180 single base substitution G T intron_variant PAEN-IT 2 109889624 109889624 single base substitution G T intron_variant PAEN-IT 2 110045811 110045811 single base substitution T C intron_variant PBCA-DE 2 109743736 109743737 deletion of <=200bp GA - upstream_gene_variant PBCA-DE 2 109748189 109748189 single base substitution A G intron_variant PBCA-DE 2 109756355 109756355 single base substitution C A intron_variant PBCA-DE 2 109765429 109765429 single base substitution G T intron_variant PBCA-DE 2 109778627 109778627 single base substitution C T intron_variant PBCA-DE 2 109780466 109780466 single base substitution G A intron_variant PBCA-DE 2 109785838 109785838 single base substitution A G intron_variant PBCA-DE 2 109786160 109786160 single base substitution C A intron_variant PBCA-DE 2 109786189 109786189 single base substitution A G intron_variant PBCA-DE 2 109802372 109802372 single base substitution C G intron_variant PBCA-DE 2 109823112 109823112 single base substitution T A intron_variant PBCA-DE 2 109857049 109857049 single base substitution G A intron_variant PBCA-DE 2 109870898 109870898 single base substitution G A intron_variant PBCA-DE 2 109871927 109871927 single base substitution G A intron_variant PBCA-DE 2 109878320 109878320 single base substitution T A intron_variant PBCA-DE 2 109879465 109879465 insertion of <=200bp - T intron_variant PBCA-DE 2 109919628 109919628 single base substitution G A intron_variant PBCA-DE 2 109938488 109938489 deletion of <=200bp AA - intron_variant PBCA-DE 2 109942816 109942816 deletion of <=200bp T - intron_variant PBCA-DE 2 109947387 109947387 single base substitution G C intron_variant PBCA-DE 2 109952191 109952191 single base substitution C A intron_variant PBCA-DE 2 109954193 109954193 deletion of <=200bp T - intron_variant PBCA-DE 2 109954702 109954702 single base substitution A C intron_variant PBCA-DE 2 109955737 109955737 single base substitution G T intron_variant PBCA-DE 2 109956452 109956452 single base substitution T A intron_variant PBCA-DE 2 109965476 109965477 deletion of <=200bp TC - intron_variant PBCA-DE 2 109969372 109969372 single base substitution G A intron_variant PBCA-DE 2 109970721 109970721 single base substitution C T intron_variant PBCA-DE 2 109973859 109973859 single base substitution G A intron_variant PBCA-DE 2 109974380 109974380 single base substitution G A intron_variant PBCA-DE 2 109978555 109978555 single base substitution T A intron_variant PBCA-DE 2 109983388 109983388 single base substitution G A intron_variant PBCA-DE 2 109986531 109986531 single base substitution G T intron_variant PBCA-DE 2 109995724 109995724 single base substitution C T intron_variant PBCA-DE 2 110000054 110000054 single base substitution C T intron_variant PBCA-DE 2 110000835 110000835 single base substitution G A intron_variant PBCA-DE 2 110004443 110004443 single base substitution G A intron_variant PBCA-DE 2 110012263 110012263 single base substitution C G intron_variant PBCA-DE 2 110021787 110021787 single base substitution G A intron_variant PBCA-DE 2 110038158 110038158 single base substitution G A intron_variant PBCA-DE 2 110046998 110046998 single base substitution C G intron_variant PBCA-DE 2 110051309 110051309 single base substitution C T intron_variant PBCA-DE 2 110052475 110052475 insertion of <=200bp - TAGA intron_variant PBCA-DE 2 110053776 110053776 single base substitution G T intron_variant PBCA-DE 2 110058037 110058037 single base substitution G A intron_variant PBCA-DE 2 110064169 110064169 single base substitution A T intron_variant PBCA-DE 2 110080529 110080529 single base substitution G T intron_variant PBCA-DE 2 110088548 110088551 deletion of <=200bp ATTA - intron_variant PBCA-DE 2 110093571 110093571 single base substitution C G intron_variant PBCA-DE 2 110257185 110257185 single base substitution C G intron_variant PBCA-DE 2 110257185 110257185 single base substitution C G upstream_gene_variant PBCA-DE 2 110258754 110258754 single base substitution A G intron_variant PBCA-DE 2 110258754 110258754 single base substitution A G upstream_gene_variant PRAD-CA 2 109747017 109747017 single base substitution C T intron_variant PRAD-CA 2 109786705 109786705 single base substitution C T intron_variant PRAD-CA 2 109786710 109786710 single base substitution C T intron_variant PRAD-CA 2 109786725 109786725 single base substitution C T intron_variant PRAD-CA 2 109805838 109805838 single base substitution C T intron_variant PRAD-CA 2 109827962 109827962 single base substitution G A intron_variant PRAD-CA 2 109865348 109865348 single base substitution G T intron_variant PRAD-CA 2 109884056 109884056 single base substitution G T intron_variant PRAD-CA 2 109884461 109884461 single base substitution C T intron_variant PRAD-CA 2 109910199 109910199 single base substitution C G intron_variant PRAD-CA 2 109933285 109933285 single base substitution G T intron_variant PRAD-CA 2 109952865 109952865 single base substitution A C intron_variant PRAD-CA 2 110005944 110005944 single base substitution C T intron_variant PRAD-CA 2 110023670 110023670 single base substitution C T intron_variant PRAD-CA 2 110024382 110024382 single base substitution T G intron_variant PRAD-CA 2 110034653 110034653 single base substitution G A intron_variant PRAD-CA 2 110053248 110053248 single base substitution C T intron_variant PRAD-CA 2 110062256 110062256 single base substitution G A intron_variant PRAD-CA 2 110105130 110105130 single base substitution G C intron_variant PRAD-UK 2 109743656 109743656 single base substitution A T upstream_gene_variant PRAD-UK 2 109745038 109745038 single base substitution A C upstream_gene_variant PRAD-UK 2 109769555 109769555 deletion of <=200bp A - intron_variant PRAD-UK 2 109770444 109770444 single base substitution C T intron_variant PRAD-UK 2 109785714 109785714 single base substitution A C intron_variant PRAD-UK 2 109786158 109786158 single base substitution C A intron_variant PRAD-UK 2 109792356 109792411 deletion of <=200bp TTTTTCCAGGGAGTTCTTTGAATATTTTATAGTAATACTTTATTTTTCTGGATCAC - intron_variant PRAD-UK 2 109795396 109795396 single base substitution T G intron_variant PRAD-UK 2 109818819 109818819 single base substitution C G intron_variant PRAD-UK 2 109832633 109832633 single base substitution A G intron_variant PRAD-UK 2 109832651 109832651 single base substitution C T intron_variant PRAD-UK 2 109834246 109834246 single base substitution T A intron_variant PRAD-UK 2 109846561 109846561 single base substitution C T intron_variant PRAD-UK 2 109848727 109848727 single base substitution A G intron_variant PRAD-UK 2 109853810 109853810 single base substitution A C intron_variant PRAD-UK 2 109861329 109861329 single base substitution G T intron_variant PRAD-UK 2 109866363 109866363 single base substitution A G intron_variant PRAD-UK 2 109880763 109880763 single base substitution C A intron_variant PRAD-UK 2 109888917 109888917 single base substitution C A intron_variant PRAD-UK 2 109901778 109901778 single base substitution G T intron_variant PRAD-UK 2 109905950 109905950 single base substitution C T intron_variant PRAD-UK 2 109930218 109930218 single base substitution G A intron_variant PRAD-UK 2 109930341 109930341 single base substitution G T intron_variant PRAD-UK 2 109947482 109947486 multiple base substitution (>=2bp and <=200bp) TACTG TATA intron_variant PRAD-UK 2 109947486 109947486 single base substitution G A intron_variant PRAD-UK 2 109947487 109947487 single base substitution T A intron_variant PRAD-UK 2 109962594 109962594 single base substitution G C intron_variant PRAD-UK 2 109965874 109965874 single base substitution T A intron_variant PRAD-UK 2 109977359 109977359 single base substitution G T intron_variant PRAD-UK 2 109981195 109981195 single base substitution G A intron_variant PRAD-UK 2 109981946 109981946 single base substitution G C intron_variant PRAD-UK 2 110003798 110003798 single base substitution G A intron_variant PRAD-UK 2 110015917 110015917 deletion of <=200bp G - intron_variant PRAD-UK 2 110040083 110040083 single base substitution G A intron_variant PRAD-UK 2 110049273 110049273 single base substitution G A intron_variant PRAD-UK 2 110053895 110053895 single base substitution C T intron_variant PRAD-UK 2 110054013 110054013 single base substitution G T intron_variant PRAD-UK 2 110059680 110059680 single base substitution G T intron_variant PRAD-UK 2 110075772 110075772 single base substitution A G intron_variant PRAD-UK 2 110084027 110084027 single base substitution G T intron_variant PRAD-UK 2 110092698 110092698 single base substitution C T intron_variant PRAD-UK 2 110107820 110107820 single base substitution C T intron_variant PRAD-UK 2 110262354 110262354 single base substitution G T downstream_gene_variant READ-US 2 109988100 109988100 single base substitution G C missense_variant G303A 908G>C READ-US 2 110015096 110015096 single base substitution C T synonymous_variant A332A 996C>T RECA-EU 2 109752173 109752173 single base substitution T A intron_variant RECA-EU 2 109755284 109755284 single base substitution A G intron_variant RECA-EU 2 109768299 109768299 single base substitution T G intron_variant RECA-EU 2 109772461 109772461 single base substitution C G intron_variant RECA-EU 2 109776243 109776243 single base substitution C G intron_variant RECA-EU 2 109781894 109781894 single base substitution G C intron_variant RECA-EU 2 109783259 109783259 single base substitution G A intron_variant RECA-EU 2 109795820 109795820 single base substitution A C intron_variant RECA-EU 2 109796468 109796468 single base substitution T G intron_variant RECA-EU 2 109805223 109805223 single base substitution C G intron_variant RECA-EU 2 109825749 109825749 single base substitution G A intron_variant RECA-EU 2 109829829 109829829 single base substitution G A intron_variant RECA-EU 2 109830154 109830154 single base substitution G A intron_variant RECA-EU 2 109830784 109830784 single base substitution G T intron_variant RECA-EU 2 109858593 109858593 single base substitution G A intron_variant RECA-EU 2 109860161 109860161 single base substitution G A intron_variant RECA-EU 2 109861337 109861337 single base substitution C T intron_variant RECA-EU 2 109865358 109865358 single base substitution G T intron_variant RECA-EU 2 109869983 109869983 single base substitution A C intron_variant RECA-EU 2 109886554 109886554 single base substitution T A intron_variant RECA-EU 2 109889728 109889728 single base substitution G T intron_variant RECA-EU 2 109907655 109907655 single base substitution A T intron_variant RECA-EU 2 109911980 109911980 single base substitution G T intron_variant RECA-EU 2 109916867 109916867 single base substitution C T intron_variant RECA-EU 2 109921977 109921977 single base substitution G A intron_variant RECA-EU 2 109922121 109922121 single base substitution C T intron_variant RECA-EU 2 109923093 109923093 single base substitution T A intron_variant RECA-EU 2 109929678 109929678 single base substitution T C intron_variant RECA-EU 2 109929684 109929684 single base substitution C G intron_variant RECA-EU 2 109935876 109935876 single base substitution C T intron_variant RECA-EU 2 109950289 109950289 single base substitution A C intron_variant RECA-EU 2 109954219 109954219 single base substitution T C intron_variant RECA-EU 2 109956278 109956278 single base substitution C T intron_variant RECA-EU 2 109956406 109956406 single base substitution G A intron_variant RECA-EU 2 109964014 109964014 single base substitution T C intron_variant RECA-EU 2 109974188 109974188 single base substitution G T intron_variant RECA-EU 2 110005012 110005012 single base substitution T A intron_variant RECA-EU 2 110022821 110022821 single base substitution C T intron_variant RECA-EU 2 110059212 110059212 single base substitution G C intron_variant RECA-EU 2 110072254 110072254 single base substitution G C intron_variant RECA-EU 2 110072255 110072255 single base substitution G A intron_variant RECA-EU 2 110076041 110076041 single base substitution C A intron_variant RECA-EU 2 110080046 110080046 single base substitution T A intron_variant RECA-EU 2 110090853 110090853 single base substitution C A intron_variant RECA-EU 2 110101891 110101891 single base substitution T G intron_variant RECA-EU 2 110264721 110264721 single base substitution G T downstream_gene_variant SKCA-BR 2 109741143 109741143 single base substitution C T upstream_gene_variant SKCA-BR 2 109741785 109741785 single base substitution C T upstream_gene_variant SKCA-BR 2 109743775 109743775 single base substitution A C upstream_gene_variant SKCA-BR 2 109744784 109744784 single base substitution G A upstream_gene_variant SKCA-BR 2 109750639 109750639 single base substitution G T intron_variant SKCA-BR 2 109751606 109751606 single base substitution C T intron_variant SKCA-BR 2 109752383 109752383 single base substitution A G intron_variant SKCA-BR 2 109752831 109752832 deletion of <=200bp TC - intron_variant SKCA-BR 2 109753806 109753806 single base substitution A C intron_variant SKCA-BR 2 109755790 109755790 single base substitution T G intron_variant SKCA-BR 2 109756116 109756116 single base substitution C T intron_variant SKCA-BR 2 109758513 109758513 single base substitution C T intron_variant SKCA-BR 2 109760999 109760999 single base substitution G A intron_variant SKCA-BR 2 109762488 109762507 deletion of <=200bp CGGAGTCCATGCGGGCCGAG - intron_variant SKCA-BR 2 109764759 109764759 single base substitution C A intron_variant SKCA-BR 2 109765329 109765329 single base substitution C T intron_variant SKCA-BR 2 109768065 109768065 single base substitution C T intron_variant SKCA-BR 2 109769215 109769215 single base substitution A G intron_variant SKCA-BR 2 109769256 109769256 single base substitution T G intron_variant SKCA-BR 2 109771856 109771856 single base substitution A C intron_variant SKCA-BR 2 109773617 109773617 single base substitution T C intron_variant SKCA-BR 2 109778298 109778298 single base substitution C A intron_variant SKCA-BR 2 109782916 109782916 single base substitution A G intron_variant SKCA-BR 2 109784269 109784269 single base substitution C T intron_variant SKCA-BR 2 109784715 109784715 single base substitution G A intron_variant SKCA-BR 2 109785753 109785753 single base substitution G T intron_variant SKCA-BR 2 109785911 109785911 single base substitution T G intron_variant SKCA-BR 2 109786678 109786678 single base substitution C T intron_variant SKCA-BR 2 109786695 109786705 deletion of <=200bp TTTCTTTTCTC - intron_variant SKCA-BR 2 109786695 109786725 deletion of <=200bp TTTCTTTTCTCTTCTCTTCTCTTCTCTTCTC - intron_variant SKCA-BR 2 109786715 109786715 single base substitution C T intron_variant SKCA-BR 2 109787443 109787443 single base substitution A C intron_variant SKCA-BR 2 109791516 109791516 single base substitution C T intron_variant SKCA-BR 2 109794202 109794202 single base substitution C T intron_variant SKCA-BR 2 109796829 109796829 single base substitution T G intron_variant SKCA-BR 2 109798726 109798726 single base substitution C T intron_variant SKCA-BR 2 109798835 109798835 single base substitution C T intron_variant SKCA-BR 2 109799063 109799063 single base substitution T G intron_variant SKCA-BR 2 109800798 109800798 single base substitution C T intron_variant SKCA-BR 2 109800914 109800914 single base substitution A G intron_variant SKCA-BR 2 109801583 109801583 single base substitution T C intron_variant SKCA-BR 2 109802765 109802765 single base substitution T G intron_variant SKCA-BR 2 109809766 109809766 single base substitution C T intron_variant SKCA-BR 2 109815800 109815800 single base substitution G A intron_variant SKCA-BR 2 109815891 109815891 single base substitution G A intron_variant SKCA-BR 2 109815909 109815909 single base substitution T G intron_variant SKCA-BR 2 109815956 109815956 single base substitution A C intron_variant SKCA-BR 2 109815961 109815961 single base substitution A C intron_variant SKCA-BR 2 109815980 109815980 single base substitution G C intron_variant SKCA-BR 2 109816021 109816021 single base substitution A G intron_variant SKCA-BR 2 109816023 109816023 single base substitution T A intron_variant SKCA-BR 2 109820394 109820394 single base substitution C T intron_variant SKCA-BR 2 109821717 109821718 deletion of <=200bp CT - intron_variant SKCA-BR 2 109822524 109822524 single base substitution G A intron_variant SKCA-BR 2 109830929 109830930 deletion of <=200bp GA - intron_variant SKCA-BR 2 109831895 109831895 single base substitution A C intron_variant SKCA-BR 2 109832965 109832965 single base substitution G A intron_variant SKCA-BR 2 109836978 109836982 deletion of <=200bp ATTGT - intron_variant SKCA-BR 2 109838817 109838817 single base substitution G A intron_variant SKCA-BR 2 109839658 109839658 single base substitution C T intron_variant SKCA-BR 2 109844511 109844511 single base substitution A T intron_variant SKCA-BR 2 109844696 109844696 single base substitution T C intron_variant SKCA-BR 2 109845265 109845265 single base substitution C T intron_variant SKCA-BR 2 109845822 109845822 single base substitution C T intron_variant SKCA-BR 2 109846861 109846861 single base substitution C T intron_variant SKCA-BR 2 109847829 109847829 single base substitution T G intron_variant SKCA-BR 2 109851347 109851347 single base substitution C A intron_variant SKCA-BR 2 109852770 109852770 single base substitution A G intron_variant SKCA-BR 2 109852884 109852884 single base substitution C A intron_variant SKCA-BR 2 109855817 109855817 single base substitution G T intron_variant SKCA-BR 2 109857092 109857092 single base substitution T C intron_variant SKCA-BR 2 109858567 109858567 single base substitution G A intron_variant SKCA-BR 2 109859434 109859434 single base substitution T C intron_variant SKCA-BR 2 109860720 109860720 single base substitution G A intron_variant SKCA-BR 2 109863731 109863731 single base substitution G C intron_variant SKCA-BR 2 109863804 109863804 single base substitution C T intron_variant SKCA-BR 2 109865961 109865975 deletion of <=200bp CTTTCATTCTTTCTT - intron_variant SKCA-BR 2 109865965 109865975 deletion of <=200bp CATTCTTTCTT - intron_variant SKCA-BR 2 109867757 109867757 single base substitution C T intron_variant SKCA-BR 2 109867758 109867758 single base substitution C T intron_variant SKCA-BR 2 109868710 109868710 insertion of <=200bp - GA intron_variant SKCA-BR 2 109875057 109875057 single base substitution C T intron_variant SKCA-BR 2 109876122 109876122 single base substitution G T intron_variant SKCA-BR 2 109876617 109876617 single base substitution G A intron_variant SKCA-BR 2 109878562 109878562 single base substitution G A intron_variant SKCA-BR 2 109880837 109880837 single base substitution C A intron_variant SKCA-BR 2 109883629 109883629 single base substitution C T intron_variant SKCA-BR 2 109883644 109883644 single base substitution G A intron_variant SKCA-BR 2 109885408 109885408 single base substitution C T intron_variant SKCA-BR 2 109886677 109886677 single base substitution C G intron_variant SKCA-BR 2 109886854 109886854 single base substitution T G intron_variant SKCA-BR 2 109892243 109892243 single base substitution C G intron_variant SKCA-BR 2 109894632 109894632 insertion of <=200bp - TA intron_variant SKCA-BR 2 109896115 109896115 single base substitution C T intron_variant SKCA-BR 2 109899301 109899301 single base substitution G A intron_variant SKCA-BR 2 109899999 109899999 single base substitution C T intron_variant SKCA-BR 2 109903564 109903564 single base substitution G A intron_variant SKCA-BR 2 109910085 109910085 single base substitution C T intron_variant SKCA-BR 2 109911159 109911159 single base substitution G A intron_variant SKCA-BR 2 109911704 109911704 single base substitution C T intron_variant SKCA-BR 2 109913700 109913700 single base substitution C T intron_variant SKCA-BR 2 109913768 109913768 single base substitution C T intron_variant SKCA-BR 2 109915662 109915662 single base substitution C A intron_variant SKCA-BR 2 109919110 109919110 single base substitution G A intron_variant SKCA-BR 2 109921813 109921813 single base substitution T G intron_variant SKCA-BR 2 109923025 109923025 single base substitution T G intron_variant SKCA-BR 2 109924125 109924125 single base substitution T C intron_variant SKCA-BR 2 109924332 109924332 single base substitution G A intron_variant SKCA-BR 2 109925077 109925077 single base substitution C T intron_variant SKCA-BR 2 109925987 109925987 single base substitution G T intron_variant SKCA-BR 2 109925997 109925997 single base substitution A G intron_variant SKCA-BR 2 109927835 109927835 single base substitution C A intron_variant SKCA-BR 2 109932186 109932186 single base substitution A T intron_variant SKCA-BR 2 109932301 109932301 single base substitution C T intron_variant SKCA-BR 2 109933447 109933447 single base substitution T A intron_variant SKCA-BR 2 109933915 109933915 single base substitution C T intron_variant SKCA-BR 2 109934556 109934556 insertion of <=200bp - CAAA intron_variant SKCA-BR 2 109939843 109939843 single base substitution C T intron_variant SKCA-BR 2 109940007 109940007 single base substitution A G intron_variant SKCA-BR 2 109940637 109940637 single base substitution A G intron_variant SKCA-BR 2 109941197 109941197 single base substitution C T intron_variant SKCA-BR 2 109941520 109941520 single base substitution C T intron_variant SKCA-BR 2 109941767 109941775 deletion of <=200bp ATTTCTTTC - intron_variant SKCA-BR 2 109941782 109941783 deletion of <=200bp TC - intron_variant SKCA-BR 2 109942023 109942023 single base substitution T C intron_variant SKCA-BR 2 109942206 109942206 single base substitution A G intron_variant SKCA-BR 2 109947538 109947538 single base substitution C T intron_variant SKCA-BR 2 109947696 109947696 single base substitution A C intron_variant SKCA-BR 2 109957079 109957079 single base substitution G A intron_variant SKCA-BR 2 109958107 109958107 single base substitution C G intron_variant SKCA-BR 2 109958342 109958342 single base substitution G A intron_variant SKCA-BR 2 109958528 109958528 single base substitution G A intron_variant SKCA-BR 2 109961418 109961418 single base substitution T G intron_variant SKCA-BR 2 109961429 109961429 single base substitution T G intron_variant SKCA-BR 2 109963387 109963387 single base substitution G A intron_variant SKCA-BR 2 109965567 109965567 single base substitution C T intron_variant SKCA-BR 2 109965594 109965594 single base substitution C T intron_variant SKCA-BR 2 109967961 109967961 single base substitution C T intron_variant SKCA-BR 2 109970268 109970268 single base substitution G A intron_variant SKCA-BR 2 109970348 109970348 single base substitution C T intron_variant SKCA-BR 2 109970554 109970554 single base substitution A G intron_variant SKCA-BR 2 109976460 109976460 single base substitution C T intron_variant SKCA-BR 2 109978963 109978963 single base substitution C T intron_variant SKCA-BR 2 109979728 109979728 single base substitution A G intron_variant SKCA-BR 2 109980247 109980247 single base substitution C T intron_variant SKCA-BR 2 109983572 109983572 single base substitution G C intron_variant SKCA-BR 2 109986646 109986652 deletion of <=200bp GGTCTCT - intron_variant SKCA-BR 2 109986701 109986701 insertion of <=200bp - CT intron_variant SKCA-BR 2 109992135 109992135 single base substitution C A intron_variant SKCA-BR 2 109992136 109992136 single base substitution C T intron_variant SKCA-BR 2 109995878 109995878 single base substitution C T intron_variant SKCA-BR 2 109996508 109996508 single base substitution G A intron_variant SKCA-BR 2 110002732 110002732 single base substitution C T intron_variant SKCA-BR 2 110002950 110002950 single base substitution C T intron_variant SKCA-BR 2 110003899 110003899 single base substitution T C intron_variant SKCA-BR 2 110003905 110003905 single base substitution C T intron_variant SKCA-BR 2 110004831 110004831 single base substitution A C intron_variant SKCA-BR 2 110005208 110005208 single base substitution C A intron_variant SKCA-BR 2 110005594 110005594 single base substitution G A intron_variant SKCA-BR 2 110006409 110006409 single base substitution C T intron_variant SKCA-BR 2 110008153 110008153 single base substitution G A intron_variant SKCA-BR 2 110015635 110015635 single base substitution T C intron_variant SKCA-BR 2 110018209 110018209 single base substitution A C intron_variant SKCA-BR 2 110021245 110021245 single base substitution A C intron_variant SKCA-BR 2 110022166 110022166 single base substitution C T intron_variant SKCA-BR 2 110022907 110022907 single base substitution T C intron_variant SKCA-BR 2 110023368 110023368 single base substitution G A intron_variant SKCA-BR 2 110023838 110023838 single base substitution A G intron_variant SKCA-BR 2 110024153 110024153 single base substitution C A intron_variant SKCA-BR 2 110025265 110025265 single base substitution T C intron_variant SKCA-BR 2 110025980 110025980 single base substitution G A intron_variant SKCA-BR 2 110026316 110026316 single base substitution A G intron_variant SKCA-BR 2 110026620 110026620 single base substitution C T intron_variant SKCA-BR 2 110027780 110027780 single base substitution C T intron_variant SKCA-BR 2 110028329 110028329 single base substitution T G intron_variant SKCA-BR 2 110029906 110029906 single base substitution C T intron_variant SKCA-BR 2 110030964 110030964 single base substitution C A intron_variant SKCA-BR 2 110031524 110031524 single base substitution G A intron_variant SKCA-BR 2 110033783 110033783 single base substitution G A intron_variant SKCA-BR 2 110033937 110033937 single base substitution G A intron_variant SKCA-BR 2 110036439 110036439 single base substitution A G intron_variant SKCA-BR 2 110036446 110036446 single base substitution T G intron_variant SKCA-BR 2 110038277 110038277 single base substitution T G intron_variant SKCA-BR 2 110040017 110040017 single base substitution G A intron_variant SKCA-BR 2 110040927 110040927 single base substitution A G intron_variant SKCA-BR 2 110041695 110041695 single base substitution C T intron_variant SKCA-BR 2 110042463 110042463 single base substitution C T intron_variant SKCA-BR 2 110043434 110043436 deletion of <=200bp ATT - intron_variant SKCA-BR 2 110043456 110043456 single base substitution G A intron_variant SKCA-BR 2 110047066 110047066 single base substitution C A intron_variant SKCA-BR 2 110048411 110048411 single base substitution C T intron_variant SKCA-BR 2 110048768 110048768 single base substitution C T intron_variant SKCA-BR 2 110049386 110049386 single base substitution A G intron_variant SKCA-BR 2 110054031 110054031 single base substitution G A intron_variant SKCA-BR 2 110056407 110056407 single base substitution G A intron_variant SKCA-BR 2 110056408 110056408 single base substitution G A intron_variant SKCA-BR 2 110057628 110057628 single base substitution C T intron_variant SKCA-BR 2 110059871 110059871 single base substitution G A intron_variant SKCA-BR 2 110060963 110060963 single base substitution C T intron_variant SKCA-BR 2 110062961 110062961 single base substitution G A intron_variant SKCA-BR 2 110063279 110063279 single base substitution G A intron_variant SKCA-BR 2 110063642 110063642 single base substitution G A intron_variant SKCA-BR 2 110065890 110065890 single base substitution C T missense_variant S698F 2093C>T SKCA-BR 2 110067886 110067886 single base substitution C T downstream_gene_variant SKCA-BR 2 110067886 110067886 single base substitution C T intron_variant SKCA-BR 2 110068161 110068161 single base substitution A G downstream_gene_variant SKCA-BR 2 110068161 110068161 single base substitution A G intron_variant SKCA-BR 2 110068983 110068983 single base substitution C T downstream_gene_variant SKCA-BR 2 110068983 110068983 single base substitution C T intron_variant SKCA-BR 2 110076628 110076628 single base substitution C T intron_variant SKCA-BR 2 110076708 110076708 single base substitution T C intron_variant SKCA-BR 2 110079981 110079981 single base substitution T C intron_variant SKCA-BR 2 110082233 110082233 single base substitution G A intron_variant SKCA-BR 2 110091600 110091600 single base substitution A T intron_variant SKCA-BR 2 110094458 110094458 single base substitution C T intron_variant SKCA-BR 2 110094460 110094460 single base substitution C T intron_variant SKCA-BR 2 110095108 110095108 single base substitution C T intron_variant SKCA-BR 2 110096008 110096008 single base substitution G A intron_variant SKCA-BR 2 110100966 110100966 single base substitution C T intron_variant SKCA-BR 2 110101572 110101572 single base substitution C T intron_variant SKCA-BR 2 110101613 110101613 single base substitution T A intron_variant SKCA-BR 2 110106215 110106215 single base substitution A G intron_variant SKCA-BR 2 110109222 110109222 single base substitution G A intron_variant SKCA-BR 2 110251975 110251975 single base substitution C T intron_variant SKCA-BR 2 110251976 110251976 single base substitution C T intron_variant SKCA-BR 2 110254432 110254432 single base substitution C T intron_variant SKCA-BR 2 110254432 110254432 single base substitution C T upstream_gene_variant SKCA-BR 2 110254533 110254533 single base substitution G A intron_variant SKCA-BR 2 110254533 110254533 single base substitution G A upstream_gene_variant SKCA-BR 2 110254981 110254981 single base substitution C A intron_variant SKCA-BR 2 110254981 110254981 single base substitution C A upstream_gene_variant SKCA-BR 2 110255793 110255793 single base substitution C A intron_variant SKCA-BR 2 110255793 110255793 single base substitution C A upstream_gene_variant SKCA-BR 2 110259769 110259769 single base substitution T G 3_prime_UTR_variant SKCA-BR 2 110259769 110259769 single base substitution T G downstream_gene_variant SKCA-BR 2 110259784 110259784 single base substitution A G 3_prime_UTR_variant SKCA-BR 2 110259784 110259784 single base substitution A G downstream_gene_variant SKCA-BR 2 110261859 110261859 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 110261859 110261859 single base substitution C T downstream_gene_variant SKCA-BR 2 110263721 110263721 single base substitution C T downstream_gene_variant SKCA-BR 2 110266456 110266456 single base substitution C T downstream_gene_variant SKCA-BR 2 110266475 110266475 single base substitution A C downstream_gene_variant SKCA-BR 2 110266886 110266886 single base substitution T A downstream_gene_variant SKCM-US 2 109964176 109964176 single base substitution G A missense_variant G207E 620G>A SKCM-US 2 109964283 109964283 single base substitution C T missense_variant L243F 727C>T SKCM-US 2 109964349 109964349 single base substitution T C missense_variant Y265H 793T>C SKCM-US 2 110015347 110015347 single base substitution C T missense_variant A416V 1247C>T SKCM-US 2 110049062 110049062 single base substitution G A synonymous_variant K503K 1509G>A SKCM-US 2 110049065 110049065 single base substitution G A synonymous_variant G504G 1512G>A SKCM-US 2 110049072 110049072 single base substitution C T synonymous_variant L507L 1519C>T SKCM-US 2 110053528 110053528 single base substitution C T missense_variant S585L 1754C>T SKCM-US 2 110065723 110065723 single base substitution C T synonymous_variant L642L 1926C>T SKCM-US 2 110065788 110065788 single base substitution C T missense_variant P664L 1991C>T SKCM-US 2 110259097 110259097 single base substitution C T missense_variant S6L 17C>T SKCM-US 2 110259097 110259097 single base substitution C T missense_variant S833L 2498C>T STAD-US 2 109964227 109964227 single base substitution G A missense_variant R224Q 671G>A STAD-US 2 110015252 110015252 single base substitution G A synonymous_variant A384A 1152G>A STAD-US 2 110015266 110015266 single base substitution A G missense_variant H389R 1166A>G STAD-US 2 110015388 110015388 single base substitution G T missense_variant A430S 1288G>T STAD-US 2 110053479 110053479 single base substitution G A missense_variant A569T 1705G>A THCA-US 2 110036027 110036027 single base substitution G A synonymous_variant T444T 1332G>A UCEC-US 2 109964258 109964258 single base substitution C T synonymous_variant G234G 702C>T UCEC-US 2 110015330 110015330 single base substitution C A missense_variant S410R 1230C>A UCEC-US 2 110015380 110015380 single base substitution C T missense_variant S427L 1280C>T UCEC-US 2 110048973 110048973 single base substitution G A missense_variant A474T 1420G>A UCEC-US 2 110048997 110048997 single base substitution G A missense_variant E482K 1444G>A UCEC-US 2 110065767 110065767 single base substitution C T missense_variant P657L 1970C>T UCEC-US 2 110107252 110107252 single base substitution C T synonymous_variant S780S 2340C>T UCEC-US 2 110107342 110107342 single base substitution G A synonymous_variant P810P 2430G>A UCEC-US 2 110259125 110259125 single base substitution C T synonymous_variant I15I 45C>T UCEC-US 2 110259125 110259125 single base substitution C T synonymous_variant I842I 2526C>T UCEC-US 2 110259140 110259140 single base substitution C T synonymous_variant G20G 60C>T UCEC-US 2 110259140 110259140 single base substitution C T synonymous_variant G847G 2541C>T UCEC-US 2 110259198 110259198 single base substitution C T missense_variant R40W 118C>T UCEC-US 2 110259198 110259198 single base substitution C T missense_variant R867W 2599C>T UCEC-US 2 110259240 110259240 insertion of <=200bp - T frameshift_variant S54*? UCEC-US 2 110259240 110259240 insertion of <=200bp - T frameshift_variant S881*?

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand RKO COSM2982786 c.1633G>A p.A545T Substitution - Missense 2:109436951-109436951 + CSCC-11-T COSM4451928 c.1487A>G p.K496R Substitution - Missense 2:109432584-109432584 + ESO-721 COSM1265505 c.1697C>G p.T566S Substitution - Missense 2:109437015-109437015 + CHOL37 COSM1744359 c.1396C>A p.L466I Substitution - Missense 2:109419635-109419635 + TCGA-AD-6895-01 COSM3694821 c.1164G>A p.T388T Substitution - coding silent 2:109398808-109398808 + CHC892T COSM4960042 c.775C>T p.P259S Substitution - Missense 2:109347875-109347875 + HCC149T COSM3708808 c.2148+7G>A p.? Unknown 2:109449496-109449496 + TCGA-29-1702-01 COSM1325999 c.2120G>A p.C707Y Substitution - Missense 2:109449461-109449461 + Pat_16_A COSM5859874 c.1670G>A p.G557E Substitution - Missense 2:109436988-109436988 + J30_T COSM3960963 c.1016C>T p.A339V Substitution - Missense 2:109398660-109398660 + TCGA-EE-A29M-06 COSM3565168 c.1509G>A p.K503K Substitution - coding silent 2:109432606-109432606 + CSCC-45-T COSM4558967 c.787G>A p.A263T Substitution - Missense 2:109347887-109347887 + TCGA-ER-A193-06 COSM3565165 c.727C>T p.L243F Substitution - Missense 2:109347827-109347827 + Au4 COSM5604858 c.624G>A p.K208K Substitution - coding silent 2:109347724-109347724 + UMC11 COSM2982787 c.1649C>T p.T550I Substitution - Missense 2:109436967-109436967 + TCGA-AA-A010-01 COSM284966 c.763C>T p.P255S Substitution - Missense 2:109347863-109347863 + TCGA-33-4566-01 COSM714789 c.1130A>T p.K377M Substitution - Missense 2:109398774-109398774 + CSCC-29-T COSM4516268 c.1745_1746CC>TT p.P582L Substitution - Missense 2:109437063-109437064 + TCGA-D1-A177-01 COSM1005315 c.28G>A p.A10T Substitution - Missense 2:109129568-109129568 + Gp5D COSM2982778 c.1353G>A p.S451S Substitution - coding silent 2:109419592-109419592 + 390 COSM4427827 c.1404-4G>A p.? Unknown 2:109432497-109432497 + TCGA-DK-A1AG-01 COSM1305538 c.1135C>T p.R379C Substitution - Missense 2:109398779-109398779 + tumor_4177376 COSM3357486 c.673C>T p.R225C Substitution - Missense 2:109347773-109347773 + CSCC-10-T COSM3565170 c.1519C>T p.L507L Substitution - coding silent 2:109432616-109432616 + TCGA-BS-A0UF-01 COSM1005319 c.1420G>A p.A474T Substitution - Missense 2:109432517-109432517 + TCGA-AP-A0LH-01 COSM1005327 c.2641_2642insT p.S881fs*>3 Insertion - Frameshift 2:109501663-109501664 + 8 COSM217203 c.1163C>T p.T388M Substitution - Missense 2:109398807-109398807 + CHC892T COSM4961133 c.2285C>T p.P762L Substitution - Missense 2:109490741-109490741 + TCGA-B5-A11E-01 COSM1005322 c.2340C>T p.S780S Substitution - coding silent 2:109490796-109490796 + TCGA-BS-A0UV-01 COSM1005323 c.2430G>A p.P810P Substitution - coding silent 2:109490886-109490886 + BD173T COSM5505737 c.2394G>T p.L798F Substitution - Missense 2:109490850-109490850 + TCGA-EM-A1YC-01 COSM3372388 c.1332G>A p.T444T Substitution - coding silent 2:109419571-109419571 + TCGA-GN-A266-06 COSM3565171 c.1926C>T p.L642L Substitution - coding silent 2:109449267-109449267 + GHE0436 COSM1225587 c.893C>T p.A298V Substitution - Missense 2:109371629-109371629 + T2 COSM3390853 c.1567G>A p.V523I Substitution - Missense 2:109432664-109432664 + TCGA-F5-6813-01 COSM3425097 c.908G>C p.G303A Substitution - Missense 2:109371644-109371644 + RK037_C01 COSM1631240 c.631G>T p.G211C Substitution - Missense 2:109347731-109347731 + D-02 COSM4766338 c.1333G>A p.A445T Substitution - Missense 2:109419572-109419572 + TCGA-BR-8363-01 COSM4084134 c.1288G>T p.A430S Substitution - Missense 2:109398932-109398932 + TCGA-D1-A0ZS-01 COSM1005318 c.1280C>T p.S427L Substitution - Missense 2:109398924-109398924 + BD10T COSM5514490 c.816A>G p.K272K Substitution - coding silent 2:109347916-109347916 + PCSI_0090_Pa_P COSM3379730 c.578C>A p.P193H Substitution - Missense 2:109347678-109347678 + SC_9096 COSM5557433 c.1997T>C p.I666T Substitution - Missense 2:109449338-109449338 + CRC-09T COSM2982805 c.2574C>T p.D858D Substitution - coding silent 2:109501596-109501596 + CHC1041T COSM217203 c.1163C>T p.T388M Substitution - Missense 2:109398807-109398807 + CHC451T COSM4957349 c.2040C>A p.V680V Substitution - coding silent 2:109449381-109449381 + MO_1262 COSM5343682 c.1549G>A p.G517R Substitution - Missense 2:109432646-109432646 + YUKAT COSM4084133 c.1166A>G p.H389R Substitution - Missense 2:109398810-109398810 + TCGA-AP-A059-01 COSM1005326 c.2599C>T p.R867W Substitution - Missense 2:109501621-109501621 + BD72T COSM1527794 c.712G>A p.G238S Substitution - Missense 2:109347812-109347812 + sysucc-311T COSM5465000 c.801C>T p.F267F Substitution - coding silent 2:109347901-109347901 + CHC451T COSM4957349 c.2040C>A p.V680V Substitution - coding silent 2:109449381-109449381 + SJBALL021047_D1 COSM4993952 c.1284C>A p.C428* Substitution - Nonsense 2:109398928-109398928 + UMC11 COSM5368343 c.2260G>T p.A754S Substitution - Missense 2:109490716-109490716 + CSCC-20-T COSM4460671 c.1175C>T p.S392F Substitution - Missense 2:109398819-109398819 + TCGA-24-1470-01 COSM86703 c.615C>T p.Y205Y Substitution - coding silent 2:109347715-109347715 + Pat_54_A COSM2982764 c.625G>A p.E209K Substitution - Missense 2:109347725-109347725 + HCC033T COSM5817930 c.2406C>A p.F802L Substitution - Missense 2:109490862-109490862 + SC_9081 COSM5549962 c.1412C>T p.A471V Substitution - Missense 2:109432509-109432509 + TCGA-DA-A3F3-06 COSM3565170 c.1519C>T p.L507L Substitution - coding silent 2:109432616-109432616 + Pat_59_A COSM1398728 c.674G>A p.R225H Substitution - Missense 2:109347774-109347774 + TCGA-A7-A3RF-01 COSM3836558 c.2454C>A p.P818P Substitution - coding silent 2:109490910-109490910 + CHC1616T COSM4803660 c.1779G>T p.R593R Substitution - coding silent 2:109437097-109437097 + YUKAT COSM5394111 c.2602A>G p.N868D Substitution - Missense 2:109501624-109501624 + TCGA-EE-A29R-06 COSM3565167 c.793T>C p.Y265H Substitution - Missense 2:109347893-109347893 + Gp2D COSM2982778 c.1353G>A p.S451S Substitution - coding silent 2:109419592-109419592 + RKO COSM2982800 c.2071delG p.I694fs*16 Deletion - Frameshift 2:109449412-109449412 + TCGA-D9-A4Z6-01 COSM3565166 c.778C>T p.Q260* Substitution - Nonsense 2:109347878-109347878 + TCGA-BR-A4QL-01 COSM4084132 c.1152G>A p.A384A Substitution - coding silent 2:109398796-109398796 + PD11326a COSM5789696 c.2090T>C p.L697P Substitution - Missense 2:109449431-109449431 + 3N57-VS-3T57 COSM4983974 c.1886G>A p.R629H Substitution - Missense 2:109449227-109449227 + 49M COSM5593079 c.663C>T p.I221I Substitution - coding silent 2:109347763-109347763 + TCGA-46-3769-01 COSM714788 c.1509G>C p.K503N Substitution - Missense 2:109432606-109432606 + LS180 COSM2982806 c.2582A>G p.Y861C Substitution - Missense 2:109501604-109501604 + TCGA-UB-A7MB-01 COSM4932571 c.2611A>G p.T871A Substitution - Missense 2:109501633-109501633 + BD236T COSM2982800 c.2071delG p.I694fs*16 Deletion - Frameshift 2:109449412-109449412 + YUMEZ COSM5394109 c.1410G>A p.L470L Substitution - coding silent 2:109432507-109432507 + 1N62-VS-1T62 COSM4977883 c.852C>T p.D284D Substitution - coding silent 2:109371588-109371588 + C086 COSM5538883 c.817G>A p.D273N Substitution - Missense 2:109347917-109347917 + CSCC-35-T COSM4538807 c.2601G>A p.R867R Substitution - coding silent 2:109501623-109501623 + 3N55-VS-3T55 COSM4983721 c.1236C>A p.S412R Substitution - Missense 2:109398880-109398880 + TCGA-BR-4366-01 COSM1631241 c.1705G>A p.A569T Substitution - Missense 2:109437023-109437023 + TCGA-CA-6717-01 COSM1398734 c.2065G>C p.A689P Substitution - Missense 2:109449406-109449406 + SC_9083 COSM5553214 c.855G>C p.E285D Substitution - Missense 2:109371591-109371591 + TCGA-AD-6964-01 COSM1398725 c.193G>A p.D65N Substitution - Missense 2:109129733-109129733 + CHC892T COSM4959530 c.1054G>A p.A352T Substitution - Missense 2:109398698-109398698 + AOCS-084-1-X COSM4128099 c.1735G>A p.A579T Substitution - Missense 2:109437053-109437053 + TCGA-D3-A3MR-06 COSM3565172 c.2498C>T p.S833L Substitution - Missense 2:109501520-109501520 + TCGA-DM-A1D9-01 COSM1305538 c.1135C>T p.R379C Substitution - Missense 2:109398779-109398779 + TCGA-QA-A7B7-01 COSM4909884 c.1266C>G p.D422E Substitution - Missense 2:109398910-109398910 + CHC892T COSM4959530 c.1054G>A p.A352T Substitution - Missense 2:109398698-109398698 + T3262 COSM4725701 c.940G>A p.V314M Substitution - Missense 2:109371676-109371676 + AOCS-163-1-4 COSM86703 c.615C>T p.Y205Y Substitution - coding silent 2:109347715-109347715 + TCGA-AM-5820-01 COSM3694822 c.1483G>A p.E495K Substitution - Missense 2:109432580-109432580 + PD11326a COSM5802003 c.2087_2092TTCTGT>TCCGG p.L697fs*13 Complex - frameshift 2:109449428-109449433 + pfg160T COSM4760057 c.2644T>G p.F882V Substitution - Missense 2:109501666-109501666 + BCM337T COSM4799111 c.45C>A p.A15A Substitution - coding silent 2:109129585-109129585 + 587284 COSM1225588 c.980A>G p.D327G Substitution - Missense 2:109398624-109398624 + C608 COSM4442843 c.1450G>T p.E484* Substitution - Nonsense 2:109432547-109432547 + PD7211a COSM5775005 c.1911G>T p.L637L Substitution - coding silent 2:109449252-109449252 + TCGA-AP-A0LM-01 COSM1005324 c.2526C>T p.I842I Substitution - coding silent 2:109501548-109501548 + CSCC-55-T COSM4456779 c.1020C>T p.S340S Substitution - coding silent 2:109398664-109398664 + LUAD-CHTN-MAD06-00668 COSM359497 c.729C>T p.L243L Substitution - coding silent 2:109347829-109347829 + TCGA-D9-A4Z6-01 COSM3565164 c.620G>A p.G207E Substitution - Missense 2:109347720-109347720 + BD120T COSM5514609 c.1784C>T p.S595L Substitution - Missense 2:109437102-109437102 + CHC1186T COSM4803383 c.1825A>G p.T609A Substitution - Missense 2:109437143-109437143 + TCGA-D9-A6EA-06 COSM3565164 c.620G>A p.G207E Substitution - Missense 2:109347720-109347720 + TCGA-G4-6628-01 COSM1305538 c.1135C>T p.R379C Substitution - Missense 2:109398779-109398779 + TCGA-13-1510-01 COSM118354 c.768C>T p.H256H Substitution - coding silent 2:109347868-109347868 + HT115 COSM1005320 c.1444G>A p.E482K Substitution - Missense 2:109432541-109432541 + 93VU147T COSM4591018 c.845C>A p.T282N Substitution - Missense 2:109347945-109347945 + ESCC_11 COSM5624440 c.1604G>T p.R535L Substitution - Missense 2:109436922-109436922 + TCGA-AP-A0LM-01 COSM1005316 c.702C>T p.G234G Substitution - coding silent 2:109347802-109347802 + C086 COSM2982783 c.1545C>T p.F515F Substitution - coding silent 2:109432642-109432642 + CHC892T COSM4961181 c.1554C>T p.N518N Substitution - coding silent 2:109432651-109432651 + PTC-70C COSM4132981 c.43G>A p.A15T Substitution - Missense 2:109129583-109129583 + TCGA-HU-A4G8-01 COSM4084133 c.1166A>G p.H389R Substitution - Missense 2:109398810-109398810 + TCGA-FW-A3R5-06 COSM3894507 c.1754C>T p.S585L Substitution - Missense 2:109437072-109437072 + GC_306T-GC_306N COSM4773577 c.486T>G p.G162G Substitution - coding silent 2:109130026-109130026 + PD11326a COSM5789735 c.2092T>G p.S698A Substitution - Missense 2:109449433-109449433 + RK308_C01 COSM3743960 c.2630G>A p.S877N Substitution - Missense 2:109501652-109501652 + BD121T COSM5514873 c.1236C>T p.S412S Substitution - coding silent 2:109398880-109398880 + RK067_C01 COSM1631241 c.1705G>A p.A569T Substitution - Missense 2:109437023-109437023 + CSCC-18-T COSM4530160 c.1671G>A p.G557G Substitution - coding silent 2:109436989-109436989 + PT18_1 COSM5899242 c.599A>T p.K200M Substitution - Missense 2:109347699-109347699 + TCGA-AD-6895-01 COSM1398735 c.2130C>A p.D710E Substitution - Missense 2:109449471-109449471 + BCM695T COSM4802796 c.1988G>A p.R663Q Substitution - Missense 2:109449329-109449329 + Pat_16_B COSM5859874 c.1670G>A p.G557E Substitution - Missense 2:109436988-109436988 + TCGA-BP-4992-01 COSM475755 c.1641G>T p.G547G Substitution - coding silent 2:109436959-109436959 + CSCC-31-T COSM4475590 c.2000C>T p.P667L Substitution - Missense 2:109449341-109449341 + PD11757a COSM5797699 c.1774C>G p.L592V Substitution - Missense 2:109437092-109437092 + HCA7 COSM4630618 c.1390C>T p.L464L Substitution - coding silent 2:109419629-109419629 + LP6007514-DNA_A01 COSM5951555 c.1195C>A p.H399N Substitution - Missense 2:109398839-109398839 + I2L-P23-Tumor-Organoid COSM5354426 c.2527G>A p.E843K Substitution - Missense 2:109501549-109501549 + PCSI_0081_Pa_P_526 COSM3379731 c.1089C>G p.V363V Substitution - coding silent 2:109398733-109398733 + TC32 COSM4582563 c.1111G>T p.D371Y Substitution - Missense 2:109398755-109398755 + pfg104T COSM4760049 c.1448T>C p.L483P Substitution - Missense 2:109432545-109432545 + ESO-859 COSM1240180 c.920G>T p.G307V Substitution - Missense 2:109371656-109371656 + TLE44 COSM4167909 c.1102C>T p.R368W Substitution - Missense 2:109398746-109398746 + sysucc-882T COSM5447387 c.1668T>C p.S556S Substitution - coding silent 2:109436986-109436986 + HCC014T COSM5814451 c.672G>A p.R224R Substitution - coding silent 2:109347772-109347772 + TCGA-GN-A266-06 COSM3565169 c.1512G>A p.G504G Substitution - coding silent 2:109432609-109432609 + 587284 COSM1225587 c.893C>T p.A298V Substitution - Missense 2:109371629-109371629 + BHY COSM2982793 c.1907G>A p.R636H Substitution - Missense 2:109449248-109449248 + SNUH_G01_S1 COSM3682255 c.1796C>T p.T599M Substitution - Missense 2:109437114-109437114 + HCC149 COSM3708808 c.2148+7G>A p.? Unknown 2:109449496-109449496 + CHC892T COSM4958544 c.358G>A p.G120S Substitution - Missense 2:109129898-109129898 + CHC892T COSM4958544 c.358G>A p.G120S Substitution - Missense 2:109129898-109129898 + CHC1041T COSM217203 c.1163C>T p.T388M Substitution - Missense 2:109398807-109398807 + TCGA-AA-3713-01 COSM1398729 c.769G>A p.A257T Substitution - Missense 2:109347869-109347869 + CHC892T COSM4960042 c.775C>T p.P259S Substitution - Missense 2:109347875-109347875 + CPCG_0184_Pr_P_P3 COSM3396438 c.1852C>G p.Q618E Substitution - Missense 2:109449193-109449193 + BD54T COSM5501844 c.735C>G p.A245A Substitution - coding silent 2:109347835-109347835 + LUAD-5V8LT COSM402001 c.673C>A p.R225S Substitution - Missense 2:109347773-109347773 + CSCC-29-T COSM4474249 c.1906C>T p.R636C Substitution - Missense 2:109449247-109449247 + TCGA-G4-6588-01 COSM1398727 c.237C>T p.R79R Substitution - coding silent 2:109129777-109129777 + S02375 COSM5696543 c.614A>T p.Y205F Substitution - Missense 2:109347714-109347714 + 385 COSM3723535 c.711C>T p.H237H Substitution - coding silent 2:109347811-109347811 + 8016470 COSM3390853 c.1567G>A p.V523I Substitution - Missense 2:109432664-109432664 + CHC1743T COSM200926 c.2486G>A p.R829H Substitution - Missense 2:109501508-109501508 + HCC056T COSM5816147 c.1923C>T p.S641S Substitution - coding silent 2:109449264-109449264 + TCGA-FW-A3R5-06 COSM3894508 c.1991C>T p.P664L Substitution - Missense 2:109449332-109449332 + 587368 COSM1225589 c.1754C>G p.S585W Substitution - Missense 2:109437072-109437072 + TCGA-CG-5723-01 COSM4084131 c.671G>A p.R224Q Substitution - Missense 2:109347771-109347771 + CPCG_0183_Pr_P_P2 COSM3396438 c.1852C>G p.Q618E Substitution - Missense 2:109449193-109449193 + BD165T COSM5506695 c.958G>A p.A320T Substitution - Missense 2:109398602-109398602 + TCGA-AP-A056-01 COSM1005325 c.2541C>T p.G847G Substitution - coding silent 2:109501563-109501563 + ESCC-205T COSM3938454 c.2398C>G p.L800V Substitution - Missense 2:109490854-109490854 + 2367455 COSM5004049 c.1404-6C>T p.? Unknown 2:109432495-109432495 + S02289 COSM5686051 c.373C>T p.P125S Substitution - Missense 2:109129913-109129913 + 2492729 COSM5727453 c.945G>A p.E315E Substitution - coding silent 2:109371681-109371681 + YUKAT COSM5394110 c.1575G>A p.R525R Substitution - coding silent 2:109436893-109436893 + ATL001 COSM4760057 c.2644T>G p.F882V Substitution - Missense 2:109501666-109501666 + TCGA-UB-A7MB-01 COSM4930768 c.1807G>T p.A603S Substitution - Missense 2:109437125-109437125 + TCGA-04-1648-01 COSM1326000 c.1115G>T p.G372V Substitution - Missense 2:109398759-109398759 + 8058344 COSM3390852 c.1404-5C>T p.? Unknown 2:109432496-109432496 + LIM1215 COSM4639472 c.2444C>T p.A815V Substitution - Missense 2:109490900-109490900 + TCGA-AD-5900-01 COSM1398728 c.674G>A p.R225H Substitution - Missense 2:109347774-109347774 + TCGA-DM-A28F-01 COSM1398731 c.802G>A p.E268K Substitution - Missense 2:109347902-109347902 + pfg062T COSM4760044 c.1075A>G p.S359G Substitution - Missense 2:109398719-109398719 + C113 COSM4441188 c.677A>C p.K226T Substitution - Missense 2:109347777-109347777 + CHC892T COSM4961133 c.2285C>T p.P762L Substitution - Missense 2:109490741-109490741 + TCGA-CC-A7IG-01 COSM4943110 c.628C>A p.P210T Substitution - Missense 2:109347728-109347728 + TCGA-BS-A0UF-01 COSM1005320 c.1444G>A p.E482K Substitution - Missense 2:109432541-109432541 + 8066443 COSM3772393 c.1264G>C p.D422H Substitution - Missense 2:109398908-109398908 + BCM695T COSM4802796 c.1988G>A p.R663Q Substitution - Missense 2:109449329-109449329 + PCSI_0081_Pa_X COSM3379731 c.1089C>G p.V363V Substitution - coding silent 2:109398733-109398733 + CSCC-40-T COSM4451853 c.1442A>C p.D481A Substitution - Missense 2:109432539-109432539 + pfg073T COSM3357486 c.673C>T p.R225C Substitution - Missense 2:109347773-109347773 + CHC1616T COSM4803660 c.1779G>T p.R593R Substitution - coding silent 2:109437097-109437097 + TCGA-AU-6004-01 COSM1398726 c.200C>T p.T67M Substitution - Missense 2:109129740-109129740 + TCGA-CM-4746-01 COSM1398733 c.2004C>T p.L668L Substitution - coding silent 2:109449345-109449345 + LS174T COSM2982806 c.2582A>G p.Y861C Substitution - Missense 2:109501604-109501604 + S0078 COSM5883235 c.1903T>C p.S635P Substitution - Missense 2:109449244-109449244 + CHC1743T COSM200926 c.2486G>A p.R829H Substitution - Missense 2:109501508-109501508 + TCGA-06-6693-01 COSM3406780 c.1036G>A p.G346S Substitution - Missense 2:109398680-109398680 + 041T COSM1729235 c.794A>T p.Y265F Substitution - Missense 2:109347894-109347894 + TCGA-GF-A6C8-06 COSM3894506 c.1247C>T p.A416V Substitution - Missense 2:109398891-109398891 + U87 COSM2982805 c.2574C>T p.D858D Substitution - coding silent 2:109501596-109501596 + HCC033T COSM5817915 c.2405T>A p.F802Y Substitution - Missense 2:109490861-109490861 + LUAD-S01315 COSM345212 c.2594T>A p.L865Q Substitution - Missense 2:109501616-109501616 + T12 COSM5343682 c.1549G>A p.G517R Substitution - Missense 2:109432646-109432646 + CHC892T COSM4961181 c.1554C>T p.N518N Substitution - coding silent 2:109432651-109432651 + TCGA-29-1695-01 COSM1326001 c.740A>G p.Y247C Substitution - Missense 2:109347840-109347840 + ATL046 COSM5707717 c.1051G>A p.V351M Substitution - Missense 2:109398695-109398695 + S02093 COSM5673149 c.408C>G p.P136P Substitution - coding silent 2:109129948-109129948 + PCSI_0090_Pa_X COSM3379730 c.578C>A p.P193H Substitution - Missense 2:109347678-109347678 + BCM337T COSM4799111 c.45C>A p.A15A Substitution - coding silent 2:109129585-109129585 + I2L-P25-Tumor-Organoid COSM5354516 c.1313C>T p.S438L Substitution - Missense 2:109419552-109419552 + TCGA-DC-5869-01 COSM1564869 c.996C>T p.A332A Substitution - coding silent 2:109398640-109398640 + TCGA-D1-A103-01 COSM1005317 c.1230C>A p.S410R Substitution - Missense 2:109398874-109398874 + 43 COSM5733995 c.261C>A p.C87* Substitution - Nonsense 2:109129801-109129801 + CHC1041T COSM217203 c.1163C>T p.T388M Substitution - Missense 2:109398807-109398807 + CHC1186T COSM4803383 c.1825A>G p.T609A Substitution - Missense 2:109437143-109437143 + 8032817 COSM1305538 c.1135C>T p.R379C Substitution - Missense 2:109398779-109398779 + TCGA-F4-6570-01 COSM1398732 c.1885C>T p.R629C Substitution - Missense 2:109449226-109449226 + I2L-P23-Tumor-Biopsy COSM5354426 c.2527G>A p.E843K Substitution - Missense 2:109501549-109501549 + TCGA-AP-A059-01 COSM1005321 c.1970C>T p.P657L Substitution - Missense 2:109449311-109449311 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.171192;Hs.171204;Hs.171244 2q13 Hs.535157 2q13

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.574-35489A>G 2 109928641 PIA A T IntronicSNV . c.574-92725A>T 2 109871405 CLL C A IntronicSNV . c.946-11750C>A 2 110003296 CLL C G Missense p.P255R c.764C>G 2 109964320 LUAD C G Missense p.T566S c.1697C>G 2 110053471 ESCA C G Synonymous p.L472L c.1416C>G 2 110048969 LUAD C T IntronicSNV . c.574-84485C>T 2 109879645 CLL C T IntronicSNV . c.574-96233C>T 2 109867897 CM C T Missense p.L243F c.727C>T 2 109964283 CM C T Missense p.P662L c.1985C>T 2 110065782 CM C T Missense p.R379C c.1135C>T 2 110015235 BLCA C T Missense p.R379C c.1135C>T 2 110015235 HNSC C T Missense p.S427L c.1280C>T 2 110015380 UCEC C T Missense p.S833L c.2498C>T 2 110259097 CM C T Missense p.T388M c.1163C>T 2 110015263 HC C T Synonymous p.A416A c.1248C>T 2 110015348 BRCA C T Synonymous p.H237H c.711C>T 2 109964267 HNSC C T Synonymous p.H256H c.768C>T 2 109964324 OV C T Synonymous p.L507L c.1519C>T 2 110049072 CM C T Synonymous p.Y205Y c.615C>T 2 109964171 OV CTTTTT - IntronicDeletion . c.574-98810_574-98805delTTTTTC 2 109865319 CLL G A IntronicSNV . c.573+56541G>A 2 109803110 PIA G A Missense p.A569T c.1705G>A 2 110053479 HC G A Missense p.A569T c.1705G>A 2 110053479 STAD G A Missense p.D371N c.1111G>A 2 110015211 LUAD G A Missense p.G346S c.1036G>A 2 110015136 GBM G A Synonymous p.K503K c.1509G>A 2 110049062 CM G A Synonymous p.T444T c.1332G>A 2 110036027 THCA G C Missense p.K503N c.1509G>C 2 110049062 LUSC G C Missense p.R604P c.1811G>C 2 110053585 HNSC G T Missense p.G211C c.631G>T 2 109964187 HC G T Missense p.G307V c.920G>T 2 109988112 ESCA G T Synonymous p.G547G c.1641G>T 2 110053415 RCCC T C Missense p.Y265H c.793T>C 2 109964349 CM - T Frameshift p.F882Lfs*174 c.2642_2643insT 2 110259241 UCEC - T Frameshift p.P465Lfs*17 c.1393_1394insT 2 110036088 HNSC T G IntronicSNV . c.573+35563T>G 2 109782132 CLL T G IntronicSNV . c.574-35533T>G 2 109928597 PIA T G Missense p.L341R c.1022T>G 2 110015122 HNSC