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 6 170013695 170013695 + Missense_Mutation SNP T T C TCGA-OR-A5JL-01A-11D-A29I-10 TCGA-OR-A5JL-10A-01D-A29L-10 g.chr6:170013695T>C c.2281A>G c.(2281-2283)Att>Gtt p.I761V BLCA 6 170013745 170013745 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 g.chr6:170013745G>A c.2231C>T c.(2230-2232)tCa>tTa p.S744L BLCA 6 170033160 170033160 + Silent SNP G G A TCGA-5N-A9KI-01A-31D-A42E-08 TCGA-5N-A9KI-10A-01D-A42H-08 g.chr6:170033160G>A c.2106C>T c.(2104-2106)atC>atT p.I702I BLCA 6 170047876 170047876 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr6:170047876C>G c.1650G>C c.(1648-1650)caG>caC p.Q550H BLCA 6 170068173 170068173 + Missense_Mutation SNP C C T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 g.chr6:170068173C>T c.565G>A c.(565-567)Gag>Aag p.E189K BRCA 6 170052035 170052035 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr6:170052035G>A c.1472C>T c.(1471-1473)tCa>tTa p.S491L BRCA 6 170068160 170068160 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr6:170068160T>G c.578A>C c.(577-579)cAc>cCc p.H193P BRCA 6 170070709 170070709 + Missense_Mutation SNP C C A TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 g.chr6:170070709C>A c.412G>T c.(412-414)Gtt>Ttt p.V138F CESC 6 170033055 170033055 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr6:170033055G>C c.2211C>G c.(2209-2211)atC>atG p.I737M CESC 6 170043795 170043795 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr6:170043795G>A c.1745C>T c.(1744-1746)tCa>tTa p.S582L CESC 6 170065626 170065626 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr6:170065626C>T c.739G>A c.(739-741)Gat>Aat p.D247N CHOL 6 170013745 170013745 + Missense_Mutation SNP G G A TCGA-W5-AA2X-01A-11D-A417-09 TCGA-W5-AA2X-10A-01D-A41A-09 g.chr6:170013745G>A c.2231C>T c.(2230-2232)tCa>tTa p.S744L COAD 6 169982990 169982990 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr6:169982990C>T c.2465G>A c.(2464-2466)cGg>cAg p.R822Q COAD 6 170002339 170002339 + Silent SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr6:170002339C>T c.2400G>A c.(2398-2400)gcG>gcA p.A800A COAD 6 170047945 170047945 + Silent SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr6:170047945G>A c.1581C>T c.(1579-1581)tgC>tgT p.C527C COAD 6 170059262 170059262 + Silent SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr6:170059262G>A c.1239C>T c.(1237-1239)gcC>gcT p.A413A COAD 6 170059580 170059580 + Silent SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr6:170059580C>T c.1164G>A c.(1162-1164)tcG>tcA p.S388S COAD 6 170064343 170064343 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:170064343G>A c.823C>T c.(823-825)Cgt>Tgt p.R275C COAD 6 170064361 170064361 + Missense_Mutation SNP C C A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr6:170064361C>A c.805G>T c.(805-807)Gat>Tat p.D269Y COAD 6 170068277 170068277 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:170068277C>T c.461G>A c.(460-462)cGa>cAa p.R154Q COAD 6 170089027 170089027 + Silent SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:170089027A>G c.75T>C c.(73-75)gtT>gtC p.V25V COADREAD 6 169982990 169982990 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr6:169982990C>T c.2465G>A c.(2464-2466)cGg>cAg p.R822Q COADREAD 6 170002339 170002339 + Silent SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr6:170002339C>T c.2400G>A c.(2398-2400)gcG>gcA p.A800A COADREAD 6 170047945 170047945 + Silent SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr6:170047945G>A c.1581C>T c.(1579-1581)tgC>tgT p.C527C COADREAD 6 170059262 170059262 + Silent SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr6:170059262G>A c.1239C>T c.(1237-1239)gcC>gcT p.A413A COADREAD 6 170059580 170059580 + Silent SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr6:170059580C>T c.1164G>A c.(1162-1164)tcG>tcA p.S388S COADREAD 6 170062510 170062510 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:170062510C>T c.915G>A c.(913-915)caG>caA p.Q305Q COADREAD 6 170064343 170064343 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:170064343G>A c.823C>T c.(823-825)Cgt>Tgt p.R275C COADREAD 6 170064361 170064361 + Missense_Mutation SNP C C A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr6:170064361C>A c.805G>T c.(805-807)Gat>Tat p.D269Y COADREAD 6 170068277 170068277 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:170068277C>T c.461G>A c.(460-462)cGa>cAa p.R154Q COADREAD 6 170089027 170089027 + Silent SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:170089027A>G c.75T>C c.(73-75)gtT>gtC p.V25V ESCA 6 170043854 170043854 + Silent SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 g.chr6:170043854C>T c.1686G>A c.(1684-1686)ttG>ttA p.L562L ESCA 6 170052081 170052081 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 g.chr6:170052081G>T c.1426C>A c.(1426-1428)Caa>Aaa p.Q476K ESCA 6 170068164 170068164 + Missense_Mutation SNP C C G TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr6:170068164C>G c.574G>C c.(574-576)Ggc>Cgc p.G192R GBM 6 170036474 170036474 + Missense_Mutation SNP T T C TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 g.chr6:170036474T>C c.1996A>G c.(1996-1998)Att>Gtt p.I666V GBMLGG 6 170013708 170013708 + Silent SNP G G A TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 g.chr6:170013708G>A c.2268C>T c.(2266-2268)ttC>ttT p.F756F GBMLGG 6 170033068 170033068 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:170033068G>A c.2198C>T c.(2197-2199)cCt>cTt p.P733L GBMLGG 6 170036474 170036474 + Missense_Mutation SNP T T C TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 g.chr6:170036474T>C c.1996A>G c.(1996-1998)Att>Gtt p.I666V GBMLGG 6 170052047 170052047 + Missense_Mutation SNP G G A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 g.chr6:170052047G>A c.1460C>T c.(1459-1461)tCt>tTt p.S487F GBMLGG 6 170064353 170064353 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:170064353G>A c.813C>T c.(811-813)caC>caT p.H271H GBMLGG 6 170070679 170070679 + Missense_Mutation SNP T T A TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 g.chr6:170070679T>A c.442A>T c.(442-444)Atg>Ttg p.M148L HNSC 6 170033070 170033070 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 g.chr6:170033070C>T c.2196G>A c.(2194-2196)cgG>cgA p.R732R HNSC 6 170052099 170052099 + Missense_Mutation SNP G G A TCGA-HD-7832-01A-11D-2129-08 TCGA-HD-7832-10A-01D-2129-08 g.chr6:170052099G>A c.1408C>T c.(1408-1410)Cgg>Tgg p.R470W HNSC 6 170060767 170060767 + Missense_Mutation SNP T T C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 g.chr6:170060767T>C c.1121A>G c.(1120-1122)tAt>tGt p.Y374C HNSC 6 170088966 170088966 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr6:170088966G>A c.136C>T c.(136-138)Cct>Tct p.P46S KIPAN 6 170033136 170033136 + Missense_Mutation SNP C C A TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 g.chr6:170033136C>A c.2130G>T c.(2128-2130)agG>agT p.R710S KIPAN 6 170038673 170038674 + Frame_Shift_Del DEL TT TT - TCGA-2Z-A9J2-01A-11D-A382-10 TCGA-2Z-A9J2-10A-01D-A385-10 g.chr6:170038673_170038674delTT c.1830_1831delAA c.(1828-1833)cgaatgfs p.M611fs KIPAN 6 170038676 170038680 + Frame_Shift_Del DEL GCAGG GCAGG - TCGA-2Z-A9J2-01A-11D-A382-10 TCGA-2Z-A9J2-10A-01D-A385-10 g.chr6:170038676_170038680delGCAGG c.1824_1828delCCTGC c.(1822-1830)accctgcgafs p.LR609fs KIRC 6 170033136 170033136 + Missense_Mutation SNP C C A TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 g.chr6:170033136C>A c.2130G>T c.(2128-2130)agG>agT p.R710S KIRP 6 170038673 170038674 + Frame_Shift_Del DEL TT TT - TCGA-2Z-A9J2-01A-11D-A382-10 TCGA-2Z-A9J2-10A-01D-A385-10 g.chr6:170038673_170038674delTT c.1830_1831delAA c.(1828-1833)cgaatgfs p.M611fs KIRP 6 170038676 170038680 + Frame_Shift_Del DEL GCAGG GCAGG - TCGA-2Z-A9J2-01A-11D-A382-10 TCGA-2Z-A9J2-10A-01D-A385-10 g.chr6:170038676_170038680delGCAGG c.1824_1828delCCTGC c.(1822-1830)accctgcgafs p.LR609fs LAML 6 170033132 170033132 + Missense_Mutation SNP C C T TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 g.chr6:170033132C>T c.2134G>A c.(2134-2136)Gtg>Atg p.V712M LGG 6 170013708 170013708 + Silent SNP G G A TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 g.chr6:170013708G>A c.2268C>T c.(2266-2268)ttC>ttT p.F756F LGG 6 170033068 170033068 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:170033068G>A c.2198C>T c.(2197-2199)cCt>cTt p.P733L LGG 6 170052047 170052047 + Missense_Mutation SNP G G A TCGA-HT-7607-01A-11D-2086-08 TCGA-HT-7607-10A-01D-2086-08 g.chr6:170052047G>A c.1460C>T c.(1459-1461)tCt>tTt p.S487F LGG 6 170064353 170064353 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:170064353G>A c.813C>T c.(811-813)caC>caT p.H271H LGG 6 170070679 170070679 + Missense_Mutation SNP T T A TCGA-DU-A7TG-01A-21D-A34J-08 TCGA-DU-A7TG-10A-01D-A34M-08 g.chr6:170070679T>A c.442A>T c.(442-444)Atg>Ttg p.M148L LIHC 6 170002368 170002368 + Missense_Mutation SNP T T C TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr6:170002368T>C c.2371A>G c.(2371-2373)Atc>Gtc p.I791V LIHC 6 170043854 170043854 + Missense_Mutation SNP C C A TCGA-XR-A8TF-01A-11D-A35Z-10 TCGA-XR-A8TF-10A-01D-A35Z-10 g.chr6:170043854C>A c.1686G>T c.(1684-1686)ttG>ttT p.L562F LIHC 6 170065609 170065609 + Missense_Mutation SNP C C A TCGA-FV-A4ZQ-01A-11D-A25V-10 TCGA-FV-A4ZQ-10A-01D-A25V-10 g.chr6:170065609C>A c.756G>T c.(754-756)caG>caT p.Q252H LUAD 6 170033053 170033053 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr6:170033053C>A c.2213G>T c.(2212-2214)tGc>tTc p.C738F LUAD 6 170033143 170033143 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr6:170033143C>T c.2123G>A c.(2122-2124)cGg>cAg p.R708Q LUAD 6 170034538 170034538 + Missense_Mutation SNP T T G TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr6:170034538T>G c.2087A>C c.(2086-2088)aAc>aCc p.N696T LUAD 6 170058428 170058428 + Missense_Mutation SNP A A G TCGA-55-8204-01A-11D-2238-08 TCGA-55-8204-10A-01D-2238-08 g.chr6:170058428A>G c.1346T>C c.(1345-1347)cTg>cCg p.L449P LUAD 6 170064294 170064294 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr6:170064294C>A c.872G>T c.(871-873)aGa>aTa p.R291I LUAD 6 170065582 170065582 + Splice_Site SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 g.chr6:170065582C>A c.783G>T c.(781-783)caG>caT p.Q261H LUAD 6 170068147 170068147 + Silent SNP C C A TCGA-69-7974-01A-11D-2184-08 TCGA-69-7974-10A-01D-2184-08 g.chr6:170068147C>A c.591G>T c.(589-591)gtG>gtT p.V197V LUAD 6 170068177 170068177 + Silent SNP C C G TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 g.chr6:170068177C>G c.561G>C c.(559-561)cgG>cgC p.R187R LUAD 6 170070699 170070699 + Missense_Mutation SNP C C A TCGA-17-Z018-01A-01W-0746-08 TCGA-17-Z018-11A-01W-0746-08 g.chr6:170070699C>A c.422G>T c.(421-423)tGt>tTt p.C141F LUAD 6 170088913 170088913 + Splice_Site SNP C C A TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr6:170088913C>A c.189G>T c.(187-189)caG>caT p.Q63H LUSC 6 170058390 170058390 + Missense_Mutation SNP C C G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 g.chr6:170058390C>G c.1384G>C c.(1384-1386)Gct>Cct p.A462P LUSC 6 170068228 170068228 + Missense_Mutation SNP T T G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 g.chr6:170068228T>G c.510A>C c.(508-510)aaA>aaC p.K170N OV 6 170059616 170059616 + Splice_Site SNP T T G TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 g.chr6:170059616T>G c.e11-2 PAAD 6 170058377 170058377 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:170058377C>T c.1397G>A c.(1396-1398)cGa>cAa p.R466Q READ 6 170062510 170062510 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:170062510C>T c.915G>A c.(913-915)caG>caA p.Q305Q SARC 6 170047928 170047928 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr6:170047928G>A c.1598C>T c.(1597-1599)cCc>cTc p.P533L SARC 6 170070759 170070759 + Missense_Mutation SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 g.chr6:170070759G>A c.362C>T c.(361-363)tCg>tTg p.S121L SKCM 6 170002355 170002355 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr6:170002355G>A c.2384C>T c.(2383-2385)cCt>cTt p.P795L SKCM 6 170013713 170013713 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr6:170013713G>A c.2263C>T c.(2263-2265)Ctt>Ttt p.L755F SKCM 6 170033160 170033160 + Silent SNP G G A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 g.chr6:170033160G>A c.2106C>T c.(2104-2106)atC>atT p.I702I SKCM 6 170059297 170059297 + Missense_Mutation SNP A A C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr6:170059297A>C c.1204T>G c.(1204-1206)Tgc>Ggc p.C402G SKCM 6 170062419 170062419 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr6:170062419G>A c.1006C>T c.(1006-1008)Cca>Tca p.P336S SKCM 6 170068224 170068224 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr6:170068224G>A c.514C>T c.(514-516)Cca>Tca p.P172S SKCM 6 170070706 170070706 + Missense_Mutation SNP C C A TCGA-EE-A29T-06A-11D-A197-08 TCGA-EE-A29T-10A-01D-A199-08 g.chr6:170070706C>A c.415G>T c.(415-417)Gcc>Tcc p.A139S SKCM 6 170072375 170072375 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr6:170072375C>T c.307G>A c.(307-309)Gaa>Aaa p.E103K SKCM 6 170072476 170072476 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr6:170072476C>T c.206G>A c.(205-207)gGa>gAa p.G69E

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 6 170052049 170052049 single base substitution T C exon_variant BLCA-CN 6 170052049 170052049 single base substitution T C synonymous_variant S119S 357A>G BLCA-CN 6 170052049 170052049 single base substitution T C synonymous_variant S359S 1077A>G BLCA-CN 6 170052049 170052049 single base substitution T C synonymous_variant S486S 1458A>G BLCA-CN 6 170052049 170052049 single base substitution T C upstream_gene_variant BLCA-US 6 170013745 170013745 single base substitution G A exon_variant BLCA-US 6 170013745 170013745 single base substitution G A missense_variant S617L 1850C>T BLCA-US 6 170013745 170013745 single base substitution G A missense_variant S744L 2231C>T BLCA-US 6 170047876 170047876 single base substitution C G exon_variant BLCA-US 6 170047876 170047876 single base substitution C G missense_variant Q183H 549G>C BLCA-US 6 170047876 170047876 single base substitution C G missense_variant Q423H 1269G>C BLCA-US 6 170047876 170047876 single base substitution C G missense_variant Q550H 1650G>C BOCA-FR 6 169902314 169902314 single base substitution C T intron_variant BOCA-FR 6 170098365 170098365 single base substitution G A intron_variant BRCA-EU 6 169854416 169854416 single base substitution T G downstream_gene_variant BRCA-EU 6 169854604 169854604 single base substitution G T downstream_gene_variant BRCA-EU 6 169854717 169854717 single base substitution C T downstream_gene_variant BRCA-EU 6 169854740 169854740 single base substitution G A downstream_gene_variant BRCA-EU 6 169858952 169858952 deletion of <=200bp A - intron_variant BRCA-EU 6 169859319 169859319 single base substitution A C intron_variant BRCA-EU 6 169859457 169859457 deletion of <=200bp A - intron_variant BRCA-EU 6 169860353 169860353 single base substitution C A intron_variant BRCA-EU 6 169860655 169860655 single base substitution G T intron_variant BRCA-EU 6 169861187 169861187 single base substitution A G intron_variant BRCA-EU 6 169861764 169861764 single base substitution G C intron_variant BRCA-EU 6 169862644 169862644 single base substitution C G intron_variant BRCA-EU 6 169863607 169863607 single base substitution T A intron_variant BRCA-EU 6 169864991 169864991 single base substitution G A intron_variant BRCA-EU 6 169865530 169865530 single base substitution C G intron_variant BRCA-EU 6 169866719 169866719 single base substitution G A intron_variant BRCA-EU 6 169867720 169867720 single base substitution G A intron_variant BRCA-EU 6 169867950 169867950 single base substitution T C intron_variant BRCA-EU 6 169869035 169869035 single base substitution G A intron_variant BRCA-EU 6 169869596 169869596 single base substitution A G intron_variant BRCA-EU 6 169869948 169869948 single base substitution T A intron_variant BRCA-EU 6 169872161 169872161 single base substitution C A intron_variant BRCA-EU 6 169872468 169872468 single base substitution C T intron_variant BRCA-EU 6 169872877 169872877 single base substitution T A intron_variant BRCA-EU 6 169873309 169873309 single base substitution C G intron_variant BRCA-EU 6 169873524 169873524 single base substitution G A intron_variant BRCA-EU 6 169874069 169874069 insertion of <=200bp - C intron_variant BRCA-EU 6 169875218 169875218 deletion of <=200bp T - intron_variant BRCA-EU 6 169875255 169875255 insertion of <=200bp - A intron_variant BRCA-EU 6 169875940 169875940 single base substitution G A intron_variant BRCA-EU 6 169876342 169876359 deletion of <=200bp GGCTTGGATAGAATCCAG - intron_variant BRCA-EU 6 169877463 169877463 single base substitution T C intron_variant BRCA-EU 6 169877774 169877774 single base substitution T A intron_variant BRCA-EU 6 169878521 169878521 single base substitution G C intron_variant BRCA-EU 6 169879125 169879125 single base substitution C T intron_variant BRCA-EU 6 169879343 169879345 deletion of <=200bp AAG - intron_variant BRCA-EU 6 169882588 169882588 single base substitution G C intron_variant BRCA-EU 6 169882776 169882776 single base substitution G A intron_variant BRCA-EU 6 169882934 169882934 single base substitution C G intron_variant BRCA-EU 6 169883031 169883031 single base substitution T C intron_variant BRCA-EU 6 169884576 169884576 single base substitution C G intron_variant BRCA-EU 6 169885467 169885467 single base substitution T C intron_variant BRCA-EU 6 169886603 169886603 single base substitution T C intron_variant BRCA-EU 6 169886836 169886836 single base substitution C T intron_variant BRCA-EU 6 169889042 169889042 single base substitution T C intron_variant BRCA-EU 6 169889164 169889164 single base substitution C T intron_variant BRCA-EU 6 169889196 169889196 single base substitution G A intron_variant BRCA-EU 6 169891976 169891976 single base substitution G A intron_variant BRCA-EU 6 169891992 169891992 single base substitution C T intron_variant BRCA-EU 6 169895987 169895987 deletion of <=200bp A - intron_variant BRCA-EU 6 169896216 169896216 single base substitution T C intron_variant BRCA-EU 6 169897321 169897321 single base substitution G A intron_variant BRCA-EU 6 169900975 169900975 single base substitution G A intron_variant BRCA-EU 6 169902462 169902462 single base substitution G A intron_variant BRCA-EU 6 169905018 169905018 single base substitution A T intron_variant BRCA-EU 6 169905151 169905151 single base substitution T A intron_variant BRCA-EU 6 169905831 169905831 single base substitution A G intron_variant BRCA-EU 6 169907100 169907100 single base substitution C A intron_variant BRCA-EU 6 169907324 169907324 deletion of <=200bp T - intron_variant BRCA-EU 6 169907508 169907508 single base substitution C T intron_variant BRCA-EU 6 169909134 169909134 single base substitution T A intron_variant BRCA-EU 6 169909907 169909907 single base substitution G A intron_variant BRCA-EU 6 169910568 169910568 single base substitution C T intron_variant BRCA-EU 6 169910620 169910620 single base substitution G A intron_variant BRCA-EU 6 169911388 169911388 single base substitution C G intron_variant BRCA-EU 6 169912680 169912680 deletion of <=200bp A - intron_variant BRCA-EU 6 169913197 169913197 single base substitution T C intron_variant BRCA-EU 6 169915597 169915597 single base substitution A G intron_variant BRCA-EU 6 169917360 169917360 single base substitution C T intron_variant BRCA-EU 6 169918303 169918303 single base substitution G C intron_variant BRCA-EU 6 169921263 169921263 single base substitution G A intron_variant BRCA-EU 6 169922507 169922507 single base substitution C T intron_variant BRCA-EU 6 169922994 169922994 single base substitution C T intron_variant BRCA-EU 6 169923004 169923004 single base substitution G C intron_variant BRCA-EU 6 169924115 169924115 single base substitution G C intron_variant BRCA-EU 6 169924403 169924403 single base substitution T G intron_variant BRCA-EU 6 169925024 169925024 single base substitution A G intron_variant BRCA-EU 6 169927110 169927110 single base substitution G C intron_variant BRCA-EU 6 169928831 169928831 single base substitution C A intron_variant BRCA-EU 6 169929084 169929084 single base substitution T G intron_variant BRCA-EU 6 169929374 169929374 single base substitution T A intron_variant BRCA-EU 6 169929442 169929443 deletion of <=200bp TG - intron_variant BRCA-EU 6 169930216 169930216 single base substitution G T intron_variant BRCA-EU 6 169930714 169930714 single base substitution C A intron_variant BRCA-EU 6 169930947 169930947 single base substitution T G intron_variant BRCA-EU 6 169931664 169931676 deletion of <=200bp ACTCATGGTCTCA - intron_variant BRCA-EU 6 169932797 169932797 single base substitution G C intron_variant BRCA-EU 6 169936916 169936916 single base substitution C T intron_variant BRCA-EU 6 169937327 169937327 single base substitution G A intron_variant BRCA-EU 6 169937508 169937508 single base substitution G A intron_variant BRCA-EU 6 169942642 169942642 single base substitution C T intron_variant BRCA-EU 6 169944739 169944739 single base substitution C T intron_variant BRCA-EU 6 169945201 169945201 single base substitution G A intron_variant BRCA-EU 6 169946558 169946558 single base substitution G C intron_variant BRCA-EU 6 169948296 169948296 single base substitution G A intron_variant BRCA-EU 6 169949555 169949555 single base substitution T C intron_variant BRCA-EU 6 169949656 169949656 single base substitution A T intron_variant BRCA-EU 6 169950885 169950885 single base substitution C G intron_variant BRCA-EU 6 169951322 169951322 single base substitution G A intron_variant BRCA-EU 6 169954954 169954954 single base substitution T C downstream_gene_variant BRCA-EU 6 169954954 169954954 single base substitution T C intron_variant BRCA-EU 6 169955292 169955292 single base substitution G T downstream_gene_variant BRCA-EU 6 169955292 169955292 single base substitution G T intron_variant BRCA-EU 6 169956211 169956211 single base substitution C T downstream_gene_variant BRCA-EU 6 169956211 169956211 single base substitution C T intron_variant BRCA-EU 6 169957414 169957414 single base substitution C G downstream_gene_variant BRCA-EU 6 169957414 169957414 single base substitution C G intron_variant BRCA-EU 6 169958006 169958006 single base substitution G C downstream_gene_variant BRCA-EU 6 169958006 169958006 single base substitution G C intron_variant BRCA-EU 6 169959785 169959785 single base substitution G A exon_variant BRCA-EU 6 169959785 169959785 single base substitution G A intron_variant BRCA-EU 6 169960288 169960288 single base substitution G A intron_variant BRCA-EU 6 169960739 169960739 single base substitution C G intron_variant BRCA-EU 6 169961678 169961678 deletion of <=200bp A - intron_variant BRCA-EU 6 169961678 169961678 insertion of <=200bp - A intron_variant BRCA-EU 6 169961705 169961705 deletion of <=200bp A - intron_variant BRCA-EU 6 169966191 169966191 single base substitution C T intron_variant BRCA-EU 6 169966813 169966813 single base substitution G A intron_variant BRCA-EU 6 169968398 169968398 single base substitution G A intron_variant BRCA-EU 6 169970156 169970156 single base substitution G A intron_variant BRCA-EU 6 169970832 169970832 single base substitution G A intron_variant BRCA-EU 6 169971022 169971022 single base substitution A G intron_variant BRCA-EU 6 169971289 169971289 single base substitution C G intron_variant BRCA-EU 6 169972867 169972867 single base substitution G A intron_variant BRCA-EU 6 169973841 169973841 single base substitution C G intron_variant BRCA-EU 6 169974660 169974660 single base substitution G A intron_variant BRCA-EU 6 169974801 169974801 single base substitution G A intron_variant BRCA-EU 6 169974948 169974948 single base substitution G C intron_variant BRCA-EU 6 169975481 169975481 single base substitution C T intron_variant BRCA-EU 6 169975586 169975586 deletion of <=200bp C - intron_variant BRCA-EU 6 169976766 169976766 single base substitution G T intron_variant BRCA-EU 6 169977348 169977348 single base substitution G A intron_variant BRCA-EU 6 169978049 169978049 single base substitution C G intron_variant BRCA-EU 6 169979028 169979028 single base substitution G A intron_variant BRCA-EU 6 169985694 169985694 single base substitution C A intron_variant BRCA-EU 6 169986272 169986272 single base substitution C A intron_variant BRCA-EU 6 169986926 169986926 single base substitution A C intron_variant BRCA-EU 6 169987079 169987079 deletion of <=200bp T - intron_variant BRCA-EU 6 169987611 169987611 single base substitution G A intron_variant BRCA-EU 6 169987925 169987925 single base substitution G C intron_variant BRCA-EU 6 169991038 169991038 single base substitution G C intron_variant BRCA-EU 6 169992108 169992108 single base substitution C T intron_variant BRCA-EU 6 169992539 169992539 single base substitution G A intron_variant BRCA-EU 6 169993032 169993032 single base substitution C T intron_variant BRCA-EU 6 169993094 169993094 single base substitution C T intron_variant BRCA-EU 6 169995459 169995459 single base substitution T G intron_variant BRCA-EU 6 169996229 169996229 single base substitution A T intron_variant BRCA-EU 6 169996422 169996422 single base substitution C G intron_variant BRCA-EU 6 169996638 169996638 single base substitution T C intron_variant BRCA-EU 6 169997432 169997432 deletion of <=200bp T - intron_variant BRCA-EU 6 169999499 169999499 single base substitution G C intron_variant BRCA-EU 6 170000120 170000120 single base substitution G A intron_variant BRCA-EU 6 170000170 170000170 single base substitution G C intron_variant BRCA-EU 6 170000739 170000739 single base substitution C A intron_variant BRCA-EU 6 170002366 170002366 single base substitution G T exon_variant BRCA-EU 6 170002366 170002366 single base substitution G T synonymous_variant I664I 1992C>A BRCA-EU 6 170002366 170002366 single base substitution G T synonymous_variant I791I 2373C>A BRCA-EU 6 170003171 170003171 single base substitution C T intron_variant BRCA-EU 6 170003583 170003583 single base substitution A G intron_variant BRCA-EU 6 170003615 170003615 single base substitution A G intron_variant BRCA-EU 6 170004025 170004025 single base substitution C T intron_variant BRCA-EU 6 170004936 170004936 insertion of <=200bp - A intron_variant BRCA-EU 6 170005124 170005124 single base substitution G C intron_variant BRCA-EU 6 170009610 170009610 single base substitution G A intron_variant BRCA-EU 6 170009953 170009953 deletion of <=200bp G - intron_variant BRCA-EU 6 170010297 170010297 single base substitution G C intron_variant BRCA-EU 6 170011876 170011876 single base substitution C A intron_variant BRCA-EU 6 170013623 170013623 single base substitution C A intron_variant BRCA-EU 6 170014073 170014073 single base substitution A G intron_variant BRCA-EU 6 170014089 170014089 single base substitution G A intron_variant BRCA-EU 6 170019064 170019064 single base substitution C T intron_variant BRCA-EU 6 170022369 170022369 single base substitution G C intron_variant BRCA-EU 6 170024023 170024023 single base substitution G C intron_variant BRCA-EU 6 170024121 170024121 single base substitution G C intron_variant BRCA-EU 6 170024239 170024239 single base substitution C T intron_variant BRCA-EU 6 170025186 170025186 single base substitution C G intron_variant BRCA-EU 6 170025516 170025516 single base substitution G C intron_variant BRCA-EU 6 170029352 170029352 single base substitution C T intron_variant BRCA-EU 6 170031523 170031523 deletion of <=200bp G - intron_variant BRCA-EU 6 170032461 170032461 single base substitution C G intron_variant BRCA-EU 6 170034639 170034639 single base substitution G C intron_variant BRCA-EU 6 170035224 170035224 single base substitution G A intron_variant BRCA-EU 6 170036252 170036252 single base substitution C G intron_variant BRCA-EU 6 170038848 170038848 single base substitution C G intron_variant BRCA-EU 6 170040757 170040757 single base substitution C T intron_variant BRCA-EU 6 170041902 170041902 single base substitution G C intron_variant BRCA-EU 6 170041968 170041968 single base substitution C T intron_variant BRCA-EU 6 170044379 170044379 single base substitution A C downstream_gene_variant BRCA-EU 6 170044379 170044379 single base substitution A C intron_variant BRCA-EU 6 170045732 170045732 single base substitution C T downstream_gene_variant BRCA-EU 6 170045732 170045732 single base substitution C T intron_variant BRCA-EU 6 170049945 170049945 deletion of <=200bp C - intron_variant BRCA-EU 6 170049945 170049945 deletion of <=200bp C - upstream_gene_variant BRCA-EU 6 170051442 170051442 single base substitution G C intron_variant BRCA-EU 6 170051442 170051442 single base substitution G C upstream_gene_variant BRCA-EU 6 170051905 170051905 single base substitution T C intron_variant BRCA-EU 6 170051905 170051905 single base substitution T C upstream_gene_variant BRCA-EU 6 170053112 170053112 single base substitution C T downstream_gene_variant BRCA-EU 6 170053112 170053112 single base substitution C T intron_variant BRCA-EU 6 170053112 170053112 single base substitution C T upstream_gene_variant BRCA-EU 6 170053955 170053955 single base substitution G A downstream_gene_variant BRCA-EU 6 170053955 170053955 single base substitution G A intron_variant BRCA-EU 6 170053955 170053955 single base substitution G A upstream_gene_variant BRCA-EU 6 170054402 170054402 single base substitution G C downstream_gene_variant BRCA-EU 6 170054402 170054402 single base substitution G C intron_variant BRCA-EU 6 170054521 170054521 single base substitution C T downstream_gene_variant BRCA-EU 6 170054521 170054521 single base substitution C T intron_variant BRCA-EU 6 170054529 170054529 single base substitution G A downstream_gene_variant BRCA-EU 6 170054529 170054529 single base substitution G A intron_variant BRCA-EU 6 170054642 170054642 single base substitution C T downstream_gene_variant BRCA-EU 6 170054642 170054642 single base substitution C T intron_variant BRCA-EU 6 170055865 170055865 single base substitution G C downstream_gene_variant BRCA-EU 6 170055865 170055865 single base substitution G C intron_variant BRCA-EU 6 170055923 170055923 single base substitution C G downstream_gene_variant BRCA-EU 6 170055923 170055923 single base substitution C G intron_variant BRCA-EU 6 170056034 170056034 single base substitution G T downstream_gene_variant BRCA-EU 6 170056034 170056034 single base substitution G T intron_variant BRCA-EU 6 170057483 170057483 single base substitution G A downstream_gene_variant BRCA-EU 6 170057483 170057483 single base substitution G A intron_variant BRCA-EU 6 170058046 170058046 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 170058046 170058046 deletion of <=200bp A - exon_variant BRCA-EU 6 170058046 170058046 deletion of <=200bp A - intron_variant BRCA-EU 6 170058122 170058122 single base substitution C T downstream_gene_variant BRCA-EU 6 170058122 170058122 single base substitution C T exon_variant BRCA-EU 6 170058122 170058122 single base substitution C T intron_variant BRCA-EU 6 170059422 170059422 single base substitution C G downstream_gene_variant BRCA-EU 6 170059422 170059422 single base substitution C G intron_variant BRCA-EU 6 170061033 170061033 single base substitution G A downstream_gene_variant BRCA-EU 6 170061033 170061033 single base substitution G A intron_variant BRCA-EU 6 170061033 170061033 single base substitution G A upstream_gene_variant BRCA-EU 6 170062682 170062682 single base substitution G A downstream_gene_variant BRCA-EU 6 170062682 170062682 single base substitution G A intron_variant BRCA-EU 6 170062682 170062682 single base substitution G A upstream_gene_variant BRCA-EU 6 170063077 170063077 single base substitution G A downstream_gene_variant BRCA-EU 6 170063077 170063077 single base substitution G A intron_variant BRCA-EU 6 170063077 170063077 single base substitution G A upstream_gene_variant BRCA-EU 6 170063173 170063173 single base substitution C T downstream_gene_variant BRCA-EU 6 170063173 170063173 single base substitution C T intron_variant BRCA-EU 6 170063173 170063173 single base substitution C T upstream_gene_variant BRCA-EU 6 170063706 170063706 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 170063706 170063706 single base substitution C T downstream_gene_variant BRCA-EU 6 170063706 170063706 single base substitution C T exon_variant BRCA-EU 6 170063706 170063706 single base substitution C T intron_variant BRCA-EU 6 170063706 170063706 single base substitution C T upstream_gene_variant BRCA-EU 6 170064689 170064689 single base substitution C T downstream_gene_variant BRCA-EU 6 170064689 170064689 single base substitution C T exon_variant BRCA-EU 6 170064689 170064689 single base substitution C T intron_variant BRCA-EU 6 170064689 170064689 single base substitution C T upstream_gene_variant BRCA-EU 6 170064800 170064800 single base substitution A G downstream_gene_variant BRCA-EU 6 170064800 170064800 single base substitution A G exon_variant BRCA-EU 6 170064800 170064800 single base substitution A G intron_variant BRCA-EU 6 170064800 170064800 single base substitution A G upstream_gene_variant BRCA-EU 6 170066123 170066123 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 170066123 170066123 deletion of <=200bp A - intron_variant BRCA-EU 6 170066123 170066123 deletion of <=200bp A - upstream_gene_variant BRCA-EU 6 170066770 170066770 single base substitution G C downstream_gene_variant BRCA-EU 6 170066770 170066770 single base substitution G C intron_variant BRCA-EU 6 170066770 170066770 single base substitution G C upstream_gene_variant BRCA-EU 6 170066909 170066909 single base substitution G A downstream_gene_variant BRCA-EU 6 170066909 170066909 single base substitution G A intron_variant BRCA-EU 6 170066909 170066909 single base substitution G A upstream_gene_variant BRCA-EU 6 170067111 170067111 single base substitution G C downstream_gene_variant BRCA-EU 6 170067111 170067111 single base substitution G C intron_variant BRCA-EU 6 170067111 170067111 single base substitution G C upstream_gene_variant BRCA-EU 6 170067470 170067470 single base substitution G C downstream_gene_variant BRCA-EU 6 170067470 170067470 single base substitution G C intron_variant BRCA-EU 6 170067470 170067470 single base substitution G C upstream_gene_variant BRCA-EU 6 170068271 170068271 single base substitution G C downstream_gene_variant BRCA-EU 6 170068271 170068271 single base substitution G C intron_variant BRCA-EU 6 170068271 170068271 single base substitution G C missense_variant S156C 467C>G BRCA-EU 6 170068271 170068271 single base substitution G C upstream_gene_variant BRCA-EU 6 170069175 170069175 single base substitution G A downstream_gene_variant BRCA-EU 6 170069175 170069175 single base substitution G A intron_variant BRCA-EU 6 170069175 170069175 single base substitution G A upstream_gene_variant BRCA-EU 6 170071054 170071054 single base substitution C T downstream_gene_variant BRCA-EU 6 170071054 170071054 single base substitution C T exon_variant BRCA-EU 6 170071054 170071054 single base substitution C T intron_variant BRCA-EU 6 170071054 170071054 single base substitution C T upstream_gene_variant BRCA-EU 6 170072486 170072486 single base substitution T G exon_variant BRCA-EU 6 170072486 170072486 single base substitution T G missense_variant I66L 196A>C BRCA-EU 6 170072486 170072486 single base substitution T G upstream_gene_variant BRCA-EU 6 170072688 170072688 single base substitution C T intron_variant BRCA-EU 6 170072688 170072688 single base substitution C T upstream_gene_variant BRCA-EU 6 170075356 170075356 single base substitution G C intron_variant BRCA-EU 6 170075356 170075356 single base substitution G C upstream_gene_variant BRCA-EU 6 170077322 170077323 deletion of <=200bp AG - intron_variant BRCA-EU 6 170078113 170078113 single base substitution G A intron_variant BRCA-EU 6 170079293 170079293 single base substitution C T intron_variant BRCA-EU 6 170080112 170080112 single base substitution G A intron_variant BRCA-EU 6 170084392 170084392 single base substitution G A intron_variant BRCA-EU 6 170085582 170085582 single base substitution C T intron_variant BRCA-EU 6 170085636 170085636 single base substitution A G intron_variant BRCA-EU 6 170086529 170086529 single base substitution A G intron_variant BRCA-EU 6 170088310 170088310 single base substitution G T intron_variant BRCA-EU 6 170089950 170089950 single base substitution G A intron_variant BRCA-EU 6 170093706 170093706 single base substitution C T intron_variant BRCA-EU 6 170094675 170094675 single base substitution G A intron_variant BRCA-EU 6 170095370 170095370 single base substitution G A intron_variant BRCA-EU 6 170096787 170096787 single base substitution G A intron_variant BRCA-EU 6 170098622 170098622 single base substitution T G intron_variant BRCA-EU 6 170099214 170099214 single base substitution T C intron_variant BRCA-EU 6 170099791 170099791 single base substitution A G intron_variant BRCA-EU 6 170104006 170104006 deletion of <=200bp A - upstream_gene_variant BRCA-EU 6 170104716 170104717 deletion of <=200bp TT - upstream_gene_variant BRCA-EU 6 170106937 170106937 single base substitution C T upstream_gene_variant BRCA-FR 6 169854604 169854604 single base substitution G T downstream_gene_variant BRCA-FR 6 169869035 169869035 single base substitution G A intron_variant BRCA-FR 6 169871665 169871665 single base substitution C T intron_variant BRCA-FR 6 169878521 169878521 single base substitution G C intron_variant BRCA-FR 6 169907100 169907100 single base substitution C A intron_variant BRCA-FR 6 169918303 169918303 single base substitution G C intron_variant BRCA-FR 6 169929084 169929084 single base substitution T G intron_variant BRCA-FR 6 169936916 169936916 single base substitution C T intron_variant BRCA-FR 6 169950382 169950382 single base substitution G T intron_variant BRCA-FR 6 169950834 169950834 single base substitution C T intron_variant BRCA-FR 6 169960739 169960739 single base substitution C G intron_variant BRCA-FR 6 169974948 169974948 single base substitution G C intron_variant BRCA-FR 6 169975801 169975801 single base substitution T A intron_variant BRCA-FR 6 169993094 169993094 single base substitution C T intron_variant BRCA-FR 6 169996422 169996422 single base substitution C G intron_variant BRCA-FR 6 170000739 170000739 single base substitution C A intron_variant BRCA-FR 6 170022369 170022369 single base substitution G C intron_variant BRCA-FR 6 170032461 170032461 single base substitution C G intron_variant BRCA-FR 6 170051442 170051442 single base substitution G C intron_variant BRCA-FR 6 170051442 170051442 single base substitution G C upstream_gene_variant BRCA-FR 6 170054642 170054642 single base substitution C T downstream_gene_variant BRCA-FR 6 170054642 170054642 single base substitution C T intron_variant BRCA-FR 6 170056267 170056267 single base substitution A G downstream_gene_variant BRCA-FR 6 170056267 170056267 single base substitution A G intron_variant BRCA-FR 6 170066770 170066770 single base substitution G C downstream_gene_variant BRCA-FR 6 170066770 170066770 single base substitution G C intron_variant BRCA-FR 6 170066770 170066770 single base substitution G C upstream_gene_variant BRCA-FR 6 170067111 170067111 single base substitution G C downstream_gene_variant BRCA-FR 6 170067111 170067111 single base substitution G C intron_variant BRCA-FR 6 170067111 170067111 single base substitution G C upstream_gene_variant BRCA-FR 6 170067470 170067470 single base substitution G C downstream_gene_variant BRCA-FR 6 170067470 170067470 single base substitution G C intron_variant BRCA-FR 6 170067470 170067470 single base substitution G C upstream_gene_variant BRCA-FR 6 170071054 170071054 single base substitution C T downstream_gene_variant BRCA-FR 6 170071054 170071054 single base substitution C T exon_variant BRCA-FR 6 170071054 170071054 single base substitution C T intron_variant BRCA-FR 6 170071054 170071054 single base substitution C T upstream_gene_variant BRCA-FR 6 170073734 170073734 single base substitution T C intron_variant BRCA-FR 6 170073734 170073734 single base substitution T C upstream_gene_variant BRCA-FR 6 170080112 170080112 single base substitution G A intron_variant BRCA-FR 6 170095370 170095370 single base substitution G A intron_variant BRCA-FR 6 170097413 170097413 single base substitution G A intron_variant BRCA-FR 6 170102021 170102021 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 6 170102021 170102021 single base substitution G A upstream_gene_variant BRCA-UK 6 169882934 169882934 single base substitution C G intron_variant BRCA-UK 6 169891976 169891976 single base substitution G A intron_variant BRCA-UK 6 169894278 169894278 single base substitution G C intron_variant BRCA-UK 6 169896248 169896248 single base substitution G A intron_variant BRCA-UK 6 169918815 169918815 single base substitution C G intron_variant BRCA-UK 6 169922836 169922836 single base substitution G A intron_variant BRCA-UK 6 169930216 169930216 single base substitution G T intron_variant BRCA-UK 6 169936521 169936521 single base substitution C G intron_variant BRCA-UK 6 169958255 169958255 single base substitution G A downstream_gene_variant BRCA-UK 6 169958255 169958255 single base substitution G A intron_variant BRCA-UK 6 169962885 169962885 single base substitution G A intron_variant BRCA-UK 6 169991038 169991038 single base substitution G C intron_variant BRCA-UK 6 170003763 170003763 single base substitution G A intron_variant BRCA-UK 6 170044410 170044410 single base substitution A G downstream_gene_variant BRCA-UK 6 170044410 170044410 single base substitution A G intron_variant BRCA-UK 6 170044426 170044426 single base substitution C T downstream_gene_variant BRCA-UK 6 170044426 170044426 single base substitution C T intron_variant BRCA-UK 6 170044428 170044428 single base substitution C T downstream_gene_variant BRCA-UK 6 170044428 170044428 single base substitution C T intron_variant BRCA-UK 6 170045477 170045477 single base substitution C T downstream_gene_variant BRCA-UK 6 170045477 170045477 single base substitution C T intron_variant BRCA-UK 6 170075521 170075521 single base substitution G C intron_variant BRCA-UK 6 170075521 170075521 single base substitution G C upstream_gene_variant BRCA-UK 6 170091729 170091729 single base substitution C G intron_variant BRCA-US 6 170052035 170052035 single base substitution G A exon_variant BRCA-US 6 170052035 170052035 single base substitution G A missense_variant S124L 371C>T BRCA-US 6 170052035 170052035 single base substitution G A missense_variant S364L 1091C>T BRCA-US 6 170052035 170052035 single base substitution G A missense_variant S491L 1472C>T BRCA-US 6 170052035 170052035 single base substitution G A upstream_gene_variant BRCA-US 6 170068160 170068160 single base substitution T G downstream_gene_variant BRCA-US 6 170068160 170068160 single base substitution T G exon_variant BRCA-US 6 170068160 170068160 single base substitution T G intron_variant BRCA-US 6 170068160 170068160 single base substitution T G missense_variant H193P 578A>C BRCA-US 6 170068160 170068160 single base substitution T G upstream_gene_variant BRCA-US 6 170070709 170070709 single base substitution C A downstream_gene_variant BRCA-US 6 170070709 170070709 single base substitution C A exon_variant BRCA-US 6 170070709 170070709 single base substitution C A intron_variant BRCA-US 6 170070709 170070709 single base substitution C A missense_variant V138F 412G>T BRCA-US 6 170070709 170070709 single base substitution C A upstream_gene_variant BTCA-JP 6 169857766 169857766 single base substitution G A intron_variant BTCA-JP 6 170013806 170013806 single base substitution C T intron_variant BTCA-JP 6 170036600 170036600 single base substitution C T intron_variant BTCA-JP 6 170036600 170036600 single base substitution C T missense_variant G497S 1489G>A BTCA-JP 6 170036600 170036600 single base substitution C T missense_variant G624S 1870G>A BTCA-JP 6 170036601 170036601 single base substitution C T intron_variant BTCA-JP 6 170036601 170036601 single base substitution C T splice_acceptor_variant BTCA-JP 6 170068058 170068058 single base substitution A G downstream_gene_variant BTCA-JP 6 170068058 170068058 single base substitution A G intron_variant BTCA-JP 6 170068058 170068058 single base substitution A G upstream_gene_variant BTCA-JP 6 170070948 170070948 single base substitution C T downstream_gene_variant BTCA-JP 6 170070948 170070948 single base substitution C T exon_variant BTCA-JP 6 170070948 170070948 single base substitution C T intron_variant BTCA-JP 6 170070948 170070948 single base substitution C T upstream_gene_variant BTCA-JP 6 170072375 170072375 single base substitution C A downstream_gene_variant BTCA-JP 6 170072375 170072375 single base substitution C A exon_variant BTCA-JP 6 170072375 170072375 single base substitution C A stop_gained E103* 307G>T BTCA-JP 6 170072375 170072375 single base substitution C A upstream_gene_variant BTCA-JP 6 170102247 170102247 single base substitution C T upstream_gene_variant BTCA-JP 6 170103996 170103996 single base substitution C A upstream_gene_variant BTCA-JP 6 170105478 170105478 single base substitution T A upstream_gene_variant CESC-US 6 169959695 169959695 single base substitution C A exon_variant CESC-US 6 169959695 169959695 single base substitution C A intron_variant CESC-US 6 170033055 170033055 single base substitution G C exon_variant CESC-US 6 170033055 170033055 single base substitution G C missense_variant I610M 1830C>G CESC-US 6 170033055 170033055 single base substitution G C missense_variant I737M 2211C>G CESC-US 6 170043795 170043795 single base substitution G A downstream_gene_variant CESC-US 6 170043795 170043795 single base substitution G A missense_variant S455L 1364C>T CESC-US 6 170043795 170043795 single base substitution G A missense_variant S582L 1745C>T CESC-US 6 170043795 170043795 single base substitution G A splice_region_variant CESC-US 6 170065626 170065626 single base substitution C T downstream_gene_variant CESC-US 6 170065626 170065626 single base substitution C T exon_variant CESC-US 6 170065626 170065626 single base substitution C T missense_variant D120N 358G>A CESC-US 6 170065626 170065626 single base substitution C T missense_variant D247N 739G>A CESC-US 6 170065626 170065626 single base substitution C T synonymous_variant L161L 483G>A CESC-US 6 170065626 170065626 single base substitution C T upstream_gene_variant CESC-US 6 170102991 170102991 single base substitution G A upstream_gene_variant CLLE-ES 6 169854953 169854953 single base substitution G C downstream_gene_variant CLLE-ES 6 169861063 169861063 single base substitution G C intron_variant CLLE-ES 6 169867218 169867218 single base substitution G T intron_variant CLLE-ES 6 169874987 169874987 single base substitution C G intron_variant CLLE-ES 6 169876228 169876228 single base substitution C T intron_variant CLLE-ES 6 169894750 169894750 single base substitution G A intron_variant CLLE-ES 6 169907075 169907075 single base substitution T C intron_variant CLLE-ES 6 169922577 169922577 single base substitution T G intron_variant CLLE-ES 6 169927306 169927306 single base substitution T C intron_variant CLLE-ES 6 169927916 169927916 single base substitution G A intron_variant CLLE-ES 6 169938142 169938142 single base substitution G A intron_variant CLLE-ES 6 169943446 169943446 single base substitution C G intron_variant CLLE-ES 6 169983353 169983353 single base substitution T C intron_variant CLLE-ES 6 170006787 170006787 single base substitution G T intron_variant CLLE-ES 6 170007807 170007807 single base substitution C T intron_variant CLLE-ES 6 170016591 170016591 single base substitution T G intron_variant CLLE-ES 6 170025974 170025974 single base substitution C A intron_variant CLLE-ES 6 170039319 170039319 single base substitution C T intron_variant CLLE-ES 6 170062661 170062661 single base substitution A G downstream_gene_variant CLLE-ES 6 170062661 170062661 single base substitution A G intron_variant CLLE-ES 6 170062661 170062661 single base substitution A G upstream_gene_variant CLLE-ES 6 170066862 170066862 single base substitution G A downstream_gene_variant CLLE-ES 6 170066862 170066862 single base substitution G A intron_variant CLLE-ES 6 170066862 170066862 single base substitution G A upstream_gene_variant CLLE-ES 6 170068015 170068015 single base substitution G A downstream_gene_variant CLLE-ES 6 170068015 170068015 single base substitution G A intron_variant CLLE-ES 6 170068015 170068015 single base substitution G A upstream_gene_variant COAD-US 6 169982990 169982990 single base substitution C T exon_variant COAD-US 6 169982990 169982990 single base substitution C T missense_variant R695Q 2084G>A COAD-US 6 169982990 169982990 single base substitution C T missense_variant R822Q 2465G>A COAD-US 6 170002339 170002339 single base substitution C T exon_variant COAD-US 6 170002339 170002339 single base substitution C T synonymous_variant A673A 2019G>A COAD-US 6 170002339 170002339 single base substitution C T synonymous_variant A800A 2400G>A COAD-US 6 170013690 170013690 single base substitution G A exon_variant COAD-US 6 170013690 170013690 single base substitution G A synonymous_variant G635G 1905C>T COAD-US 6 170013690 170013690 single base substitution G A synonymous_variant G762G 2286C>T COAD-US 6 170047945 170047945 single base substitution G A exon_variant COAD-US 6 170047945 170047945 single base substitution G A synonymous_variant C160C 480C>T COAD-US 6 170047945 170047945 single base substitution G A synonymous_variant C400C 1200C>T COAD-US 6 170047945 170047945 single base substitution G A synonymous_variant C527C 1581C>T COAD-US 6 170059262 170059262 single base substitution G A downstream_gene_variant COAD-US 6 170059262 170059262 single base substitution G A exon_variant COAD-US 6 170059262 170059262 single base substitution G A synonymous_variant A286A 858C>T COAD-US 6 170059262 170059262 single base substitution G A synonymous_variant A413A 1239C>T COAD-US 6 170059262 170059262 single base substitution G A synonymous_variant A46A 138C>T COAD-US 6 170059571 170059571 single base substitution C T downstream_gene_variant COAD-US 6 170059571 170059571 single base substitution C T exon_variant COAD-US 6 170059571 170059571 single base substitution C T synonymous_variant L24L 72G>A COAD-US 6 170059571 170059571 single base substitution C T synonymous_variant L264L 792G>A COAD-US 6 170059571 170059571 single base substitution C T synonymous_variant L391L 1173G>A COAD-US 6 170064361 170064361 single base substitution C A 3_prime_UTR_variant COAD-US 6 170064361 170064361 single base substitution C A downstream_gene_variant COAD-US 6 170064361 170064361 single base substitution C A exon_variant COAD-US 6 170064361 170064361 single base substitution C A missense_variant D142Y 424G>T COAD-US 6 170064361 170064361 single base substitution C A missense_variant D269Y 805G>T COAD-US 6 170064361 170064361 single base substitution C A upstream_gene_variant COAD-US 6 170070723 170070723 single base substitution A G downstream_gene_variant COAD-US 6 170070723 170070723 single base substitution A G exon_variant COAD-US 6 170070723 170070723 single base substitution A G intron_variant COAD-US 6 170070723 170070723 single base substitution A G missense_variant L133P 398T>C COAD-US 6 170070723 170070723 single base substitution A G upstream_gene_variant COAD-US 6 170104148 170104148 deletion of <=200bp G - upstream_gene_variant COAD-US 6 170105213 170105213 deletion of <=200bp T - upstream_gene_variant COCA-CN 6 169856967 169856967 single base substitution C G downstream_gene_variant COCA-CN 6 169859520 169859520 single base substitution A T intron_variant COCA-CN 6 169865020 169865020 single base substitution C G intron_variant COCA-CN 6 169865065 169865065 single base substitution A C intron_variant COCA-CN 6 169865156 169865156 single base substitution G C intron_variant COCA-CN 6 169899929 169899929 single base substitution C A intron_variant COCA-CN 6 169902302 169902302 single base substitution G A intron_variant COCA-CN 6 169937585 169937585 single base substitution A G intron_variant COCA-CN 6 169942337 169942337 single base substitution T G intron_variant COCA-CN 6 169944537 169944537 single base substitution G T intron_variant COCA-CN 6 169969331 169969331 single base substitution C A intron_variant COCA-CN 6 169971357 169971357 single base substitution A T intron_variant COCA-CN 6 169977469 169977469 single base substitution C A intron_variant COCA-CN 6 169982905 169982905 single base substitution C T intron_variant COCA-CN 6 170002342 170002342 single base substitution G A exon_variant COCA-CN 6 170002342 170002342 single base substitution G A synonymous_variant F672F 2016C>T COCA-CN 6 170002342 170002342 single base substitution G A synonymous_variant F799F 2397C>T COCA-CN 6 170004506 170004506 single base substitution T C intron_variant COCA-CN 6 170012602 170012602 single base substitution C G intron_variant COCA-CN 6 170024225 170024225 single base substitution T C intron_variant COCA-CN 6 170024299 170024299 single base substitution A G intron_variant COCA-CN 6 170036313 170036313 single base substitution G T intron_variant COCA-CN 6 170039319 170039319 single base substitution C T intron_variant COCA-CN 6 170039354 170039354 single base substitution G A intron_variant COCA-CN 6 170043892 170043892 single base substitution G T downstream_gene_variant COCA-CN 6 170043892 170043892 single base substitution G T intron_variant COCA-CN 6 170044323 170044323 single base substitution C G downstream_gene_variant COCA-CN 6 170044323 170044323 single base substitution C G intron_variant COCA-CN 6 170044612 170044612 single base substitution C T downstream_gene_variant COCA-CN 6 170044612 170044612 single base substitution C T intron_variant COCA-CN 6 170045218 170045218 single base substitution G A downstream_gene_variant COCA-CN 6 170045218 170045218 single base substitution G A intron_variant COCA-CN 6 170045232 170045232 single base substitution T C downstream_gene_variant COCA-CN 6 170045232 170045232 single base substitution T C intron_variant COCA-CN 6 170045262 170045262 single base substitution G A downstream_gene_variant COCA-CN 6 170045262 170045262 single base substitution G A intron_variant COCA-CN 6 170045683 170045683 single base substitution G A downstream_gene_variant COCA-CN 6 170045683 170045683 single base substitution G A intron_variant COCA-CN 6 170047859 170047859 single base substitution C T intron_variant COCA-CN 6 170047859 170047859 single base substitution C T missense_variant R189H 566G>A COCA-CN 6 170048041 170048041 single base substitution C T intron_variant COCA-CN 6 170048074 170048074 single base substitution C T intron_variant COCA-CN 6 170049299 170049299 single base substitution G A exon_variant COCA-CN 6 170049299 170049299 single base substitution G A synonymous_variant C151C 453C>T COCA-CN 6 170049299 170049299 single base substitution G A synonymous_variant C391C 1173C>T COCA-CN 6 170049299 170049299 single base substitution G A synonymous_variant C518C 1554C>T COCA-CN 6 170049370 170049370 single base substitution C T missense_variant V128I 382G>A COCA-CN 6 170049370 170049370 single base substitution C T missense_variant V368I 1102G>A COCA-CN 6 170049370 170049370 single base substitution C T missense_variant V495I 1483G>A COCA-CN 6 170049370 170049370 single base substitution C T splice_region_variant COCA-CN 6 170049370 170049370 single base substitution C T upstream_gene_variant COCA-CN 6 170058324 170058324 single base substitution G C downstream_gene_variant COCA-CN 6 170058324 170058324 single base substitution G C intron_variant COCA-CN 6 170059075 170059075 single base substitution G A downstream_gene_variant COCA-CN 6 170059075 170059075 single base substitution G A intron_variant COCA-CN 6 170059180 170059180 single base substitution A C downstream_gene_variant COCA-CN 6 170059180 170059180 single base substitution A C splice_donor_variant COCA-CN 6 170059333 170059333 single base substitution C T downstream_gene_variant COCA-CN 6 170059333 170059333 single base substitution C T intron_variant COCA-CN 6 170059564 170059564 single base substitution G A downstream_gene_variant COCA-CN 6 170059564 170059564 single base substitution G A exon_variant COCA-CN 6 170059564 170059564 single base substitution G A missense_variant R267C 799C>T COCA-CN 6 170059564 170059564 single base substitution G A missense_variant R27C 79C>T COCA-CN 6 170059564 170059564 single base substitution G A missense_variant R394C 1180C>T COCA-CN 6 170060934 170060934 single base substitution C T downstream_gene_variant COCA-CN 6 170060934 170060934 single base substitution C T intron_variant COCA-CN 6 170060934 170060934 single base substitution C T upstream_gene_variant COCA-CN 6 170060970 170060970 single base substitution T C downstream_gene_variant COCA-CN 6 170060970 170060970 single base substitution T C intron_variant COCA-CN 6 170060970 170060970 single base substitution T C upstream_gene_variant COCA-CN 6 170061157 170061157 single base substitution G C downstream_gene_variant COCA-CN 6 170061157 170061157 single base substitution G C intron_variant COCA-CN 6 170061157 170061157 single base substitution G C upstream_gene_variant COCA-CN 6 170062553 170062553 single base substitution G T downstream_gene_variant COCA-CN 6 170062553 170062553 single base substitution G T intron_variant COCA-CN 6 170062553 170062553 single base substitution G T upstream_gene_variant COCA-CN 6 170063024 170063024 single base substitution G A downstream_gene_variant COCA-CN 6 170063024 170063024 single base substitution G A intron_variant COCA-CN 6 170063024 170063024 single base substitution G A upstream_gene_variant COCA-CN 6 170063042 170063042 single base substitution G A downstream_gene_variant COCA-CN 6 170063042 170063042 single base substitution G A intron_variant COCA-CN 6 170063042 170063042 single base substitution G A upstream_gene_variant COCA-CN 6 170064433 170064433 single base substitution G A downstream_gene_variant COCA-CN 6 170064433 170064433 single base substitution G A exon_variant COCA-CN 6 170064433 170064433 single base substitution G A intron_variant COCA-CN 6 170064433 170064433 single base substitution G A upstream_gene_variant COCA-CN 6 170067238 170067238 single base substitution A G downstream_gene_variant COCA-CN 6 170067238 170067238 single base substitution A G exon_variant COCA-CN 6 170067238 170067238 single base substitution A G intron_variant COCA-CN 6 170067238 170067238 single base substitution A G synonymous_variant L236L 706T>C COCA-CN 6 170067238 170067238 single base substitution A G upstream_gene_variant COCA-CN 6 170068047 170068047 single base substitution G A downstream_gene_variant COCA-CN 6 170068047 170068047 single base substitution G A intron_variant COCA-CN 6 170068047 170068047 single base substitution G A upstream_gene_variant COCA-CN 6 170068151 170068151 single base substitution G A downstream_gene_variant COCA-CN 6 170068151 170068151 single base substitution G A exon_variant COCA-CN 6 170068151 170068151 single base substitution G A intron_variant COCA-CN 6 170068151 170068151 single base substitution G A missense_variant P196L 587C>T COCA-CN 6 170068151 170068151 single base substitution G A upstream_gene_variant COCA-CN 6 170068420 170068420 single base substitution A G downstream_gene_variant COCA-CN 6 170068420 170068420 single base substitution A G intron_variant COCA-CN 6 170068420 170068420 single base substitution A G upstream_gene_variant COCA-CN 6 170088928 170088928 single base substitution C A exon_variant COCA-CN 6 170088928 170088928 single base substitution C A missense_variant K58N 174G>T COCA-CN 6 170088978 170088978 single base substitution C A exon_variant COCA-CN 6 170088978 170088978 single base substitution C A missense_variant D42Y 124G>T COCA-CN 6 170091315 170091315 single base substitution A C intron_variant COCA-CN 6 170105129 170105129 single base substitution C T upstream_gene_variant COCA-CN 6 170105373 170105373 single base substitution T G upstream_gene_variant COCA-CN 6 170105553 170105553 single base substitution T C upstream_gene_variant COCA-CN 6 170105871 170105871 single base substitution G T upstream_gene_variant COCA-CN 6 170106829 170106829 single base substitution C T upstream_gene_variant EOPC-DE 6 169863113 169863113 single base substitution A G intron_variant EOPC-DE 6 169884168 169884168 single base substitution G A intron_variant EOPC-DE 6 170037662 170037662 single base substitution C T intron_variant EOPC-DE 6 170039319 170039319 single base substitution C T intron_variant EOPC-DE 6 170039354 170039354 single base substitution G A intron_variant EOPC-DE 6 170051308 170051308 single base substitution T G intron_variant EOPC-DE 6 170051308 170051308 single base substitution T G upstream_gene_variant EOPC-DE 6 170056549 170056549 single base substitution A G downstream_gene_variant EOPC-DE 6 170056549 170056549 single base substitution A G intron_variant EOPC-DE 6 170076073 170076073 single base substitution T G intron_variant EOPC-DE 6 170104421 170104421 single base substitution G A upstream_gene_variant ESAD-UK 6 169852798 169852798 single base substitution C G downstream_gene_variant ESAD-UK 6 169856549 169856549 single base substitution C T downstream_gene_variant ESAD-UK 6 169856574 169856574 deletion of <=200bp G - downstream_gene_variant ESAD-UK 6 169857254 169857254 single base substitution C T downstream_gene_variant ESAD-UK 6 169857469 169857469 single base substitution A G 3_prime_UTR_variant ESAD-UK 6 169857469 169857469 single base substitution A G exon_variant ESAD-UK 6 169859021 169859027 deletion of <=200bp AATCAAA - intron_variant ESAD-UK 6 169860434 169860434 single base substitution T C intron_variant ESAD-UK 6 169862354 169862354 single base substitution A T intron_variant ESAD-UK 6 169862413 169862413 single base substitution T C intron_variant ESAD-UK 6 169863211 169863211 single base substitution A G intron_variant ESAD-UK 6 169863986 169863986 single base substitution A G intron_variant ESAD-UK 6 169864767 169864767 single base substitution C T intron_variant ESAD-UK 6 169865184 169865184 single base substitution T C intron_variant ESAD-UK 6 169865998 169865998 single base substitution A C intron_variant ESAD-UK 6 169866931 169866931 single base substitution C G intron_variant ESAD-UK 6 169867025 169867025 single base substitution A C intron_variant ESAD-UK 6 169867585 169867585 single base substitution T C intron_variant ESAD-UK 6 169867585 169867585 single base substitution T G intron_variant ESAD-UK 6 169867740 169867740 single base substitution A C intron_variant ESAD-UK 6 169868413 169868413 single base substitution A C intron_variant ESAD-UK 6 169868465 169868465 single base substitution C A intron_variant ESAD-UK 6 169868600 169868600 single base substitution T C intron_variant ESAD-UK 6 169870884 169870884 single base substitution T G intron_variant ESAD-UK 6 169871632 169871632 single base substitution A C intron_variant ESAD-UK 6 169871658 169871658 single base substitution A G intron_variant ESAD-UK 6 169871792 169871792 single base substitution G A intron_variant ESAD-UK 6 169871863 169871863 deletion of <=200bp A - intron_variant ESAD-UK 6 169871978 169871978 single base substitution C T intron_variant ESAD-UK 6 169872708 169872708 single base substitution A G intron_variant ESAD-UK 6 169875004 169875004 single base substitution C T intron_variant ESAD-UK 6 169875602 169875602 single base substitution G A intron_variant ESAD-UK 6 169876035 169876035 single base substitution G T intron_variant ESAD-UK 6 169876308 169876308 single base substitution C A intron_variant ESAD-UK 6 169876591 169876591 single base substitution A G intron_variant ESAD-UK 6 169876810 169876810 single base substitution G T intron_variant ESAD-UK 6 169876833 169876833 single base substitution T G intron_variant ESAD-UK 6 169877647 169877647 single base substitution C A intron_variant ESAD-UK 6 169877808 169877808 single base substitution C T intron_variant ESAD-UK 6 169878888 169878888 single base substitution G T intron_variant ESAD-UK 6 169879061 169879061 single base substitution A C intron_variant ESAD-UK 6 169879396 169879396 single base substitution A G intron_variant ESAD-UK 6 169879663 169879663 single base substitution T G intron_variant ESAD-UK 6 169880137 169880137 single base substitution G A intron_variant ESAD-UK 6 169881179 169881179 single base substitution C A intron_variant ESAD-UK 6 169881775 169881775 single base substitution T C intron_variant ESAD-UK 6 169881799 169881799 single base substitution C T intron_variant ESAD-UK 6 169883194 169883194 single base substitution A C intron_variant ESAD-UK 6 169883208 169883208 single base substitution C T intron_variant ESAD-UK 6 169883716 169883716 single base substitution T G intron_variant ESAD-UK 6 169883829 169883829 single base substitution T C intron_variant ESAD-UK 6 169884280 169884280 single base substitution C T intron_variant ESAD-UK 6 169885126 169885126 single base substitution T A intron_variant ESAD-UK 6 169886969 169886969 single base substitution T C intron_variant ESAD-UK 6 169887032 169887032 single base substitution A G intron_variant ESAD-UK 6 169887627 169887627 single base substitution G A intron_variant ESAD-UK 6 169887691 169887691 single base substitution G T intron_variant ESAD-UK 6 169892027 169892027 single base substitution A G intron_variant ESAD-UK 6 169892582 169892582 single base substitution G A intron_variant ESAD-UK 6 169892878 169892878 single base substitution G A intron_variant ESAD-UK 6 169892897 169892897 single base substitution C A intron_variant ESAD-UK 6 169893293 169893293 single base substitution A T intron_variant ESAD-UK 6 169893428 169893428 single base substitution C A intron_variant ESAD-UK 6 169897514 169897514 single base substitution G A intron_variant ESAD-UK 6 169898038 169898038 single base substitution G C intron_variant ESAD-UK 6 169898094 169898094 single base substitution G A intron_variant ESAD-UK 6 169898351 169898351 single base substitution C T intron_variant ESAD-UK 6 169898584 169898584 single base substitution G A intron_variant ESAD-UK 6 169899749 169899749 single base substitution T C intron_variant ESAD-UK 6 169899841 169899841 single base substitution G T intron_variant ESAD-UK 6 169900363 169900363 single base substitution G T intron_variant ESAD-UK 6 169901365 169901365 single base substitution C A intron_variant ESAD-UK 6 169901664 169901664 single base substitution T C intron_variant ESAD-UK 6 169902578 169902578 single base substitution G T intron_variant ESAD-UK 6 169902733 169902733 single base substitution C T intron_variant ESAD-UK 6 169903133 169903133 single base substitution A G intron_variant ESAD-UK 6 169904024 169904024 single base substitution C A intron_variant ESAD-UK 6 169905448 169905448 single base substitution T C intron_variant ESAD-UK 6 169907334 169907334 single base substitution C A intron_variant ESAD-UK 6 169907400 169907400 single base substitution G A intron_variant ESAD-UK 6 169909135 169909135 single base substitution G A intron_variant ESAD-UK 6 169910893 169910893 deletion of <=200bp A - intron_variant ESAD-UK 6 169911013 169911013 deletion of <=200bp A - intron_variant ESAD-UK 6 169911264 169911264 single base substitution C T intron_variant ESAD-UK 6 169911292 169911292 single base substitution G T intron_variant ESAD-UK 6 169911397 169911397 single base substitution A C intron_variant ESAD-UK 6 169912140 169912140 single base substitution C G intron_variant ESAD-UK 6 169913097 169913097 single base substitution T A intron_variant ESAD-UK 6 169913146 169913146 single base substitution C T intron_variant ESAD-UK 6 169913573 169913573 single base substitution G C intron_variant ESAD-UK 6 169914502 169914502 single base substitution T G intron_variant ESAD-UK 6 169914549 169914549 deletion of <=200bp A - intron_variant ESAD-UK 6 169915121 169915121 single base substitution A T intron_variant ESAD-UK 6 169917224 169917224 single base substitution T A intron_variant ESAD-UK 6 169918278 169918278 single base substitution C T intron_variant ESAD-UK 6 169919141 169919141 single base substitution A C intron_variant ESAD-UK 6 169919222 169919222 single base substitution T C intron_variant ESAD-UK 6 169920469 169920469 single base substitution A G intron_variant ESAD-UK 6 169921098 169921098 single base substitution T G intron_variant ESAD-UK 6 169922865 169922865 single base substitution T G intron_variant ESAD-UK 6 169923756 169923756 single base substitution C T intron_variant ESAD-UK 6 169925165 169925165 single base substitution C A intron_variant ESAD-UK 6 169926786 169926786 single base substitution G T intron_variant ESAD-UK 6 169926904 169926904 single base substitution A C intron_variant ESAD-UK 6 169927978 169927978 single base substitution C G intron_variant ESAD-UK 6 169930424 169930424 deletion of <=200bp A - intron_variant ESAD-UK 6 169932489 169932489 insertion of <=200bp - A intron_variant ESAD-UK 6 169934300 169934300 single base substitution T C intron_variant ESAD-UK 6 169934693 169934693 single base substitution T G intron_variant ESAD-UK 6 169935636 169935636 single base substitution A C intron_variant ESAD-UK 6 169936631 169936631 single base substitution A T intron_variant ESAD-UK 6 169938649 169938649 single base substitution G A intron_variant ESAD-UK 6 169940781 169940781 single base substitution C T intron_variant ESAD-UK 6 169941313 169941313 single base substitution A C intron_variant ESAD-UK 6 169943797 169943797 single base substitution C A intron_variant ESAD-UK 6 169944799 169944799 single base substitution G T intron_variant ESAD-UK 6 169945613 169945613 single base substitution C T intron_variant ESAD-UK 6 169946490 169946490 insertion of <=200bp - AGCTGGTAC intron_variant ESAD-UK 6 169946526 169946526 single base substitution C A intron_variant ESAD-UK 6 169946918 169946918 single base substitution T A intron_variant ESAD-UK 6 169946918 169946918 single base substitution T C intron_variant ESAD-UK 6 169947465 169947465 insertion of <=200bp - A intron_variant ESAD-UK 6 169948876 169948876 single base substitution G A intron_variant ESAD-UK 6 169949485 169949485 single base substitution T A intron_variant ESAD-UK 6 169949550 169949550 single base substitution G C intron_variant ESAD-UK 6 169950909 169950909 single base substitution T G intron_variant ESAD-UK 6 169952115 169952115 single base substitution C T intron_variant ESAD-UK 6 169952580 169952580 single base substitution C T intron_variant ESAD-UK 6 169953936 169953936 single base substitution A G downstream_gene_variant ESAD-UK 6 169953936 169953936 single base substitution A G intron_variant ESAD-UK 6 169954073 169954073 single base substitution T G downstream_gene_variant ESAD-UK 6 169954073 169954073 single base substitution T G intron_variant ESAD-UK 6 169954079 169954079 single base substitution T C downstream_gene_variant ESAD-UK 6 169954079 169954079 single base substitution T C intron_variant ESAD-UK 6 169954679 169954679 single base substitution C T downstream_gene_variant ESAD-UK 6 169954679 169954679 single base substitution C T intron_variant ESAD-UK 6 169954887 169954887 single base substitution T C downstream_gene_variant ESAD-UK 6 169954887 169954887 single base substitution T C intron_variant ESAD-UK 6 169955297 169955297 single base substitution C G downstream_gene_variant ESAD-UK 6 169955297 169955297 single base substitution C G intron_variant ESAD-UK 6 169955326 169955326 single base substitution T G downstream_gene_variant ESAD-UK 6 169955326 169955326 single base substitution T G intron_variant ESAD-UK 6 169956116 169956116 single base substitution T C downstream_gene_variant ESAD-UK 6 169956116 169956116 single base substitution T C intron_variant ESAD-UK 6 169956456 169956456 single base substitution T G downstream_gene_variant ESAD-UK 6 169956456 169956456 single base substitution T G intron_variant ESAD-UK 6 169956705 169956705 single base substitution A T downstream_gene_variant ESAD-UK 6 169956705 169956705 single base substitution A T intron_variant ESAD-UK 6 169957120 169957120 single base substitution G A downstream_gene_variant ESAD-UK 6 169957120 169957120 single base substitution G A intron_variant ESAD-UK 6 169957859 169957859 insertion of <=200bp - T downstream_gene_variant ESAD-UK 6 169957859 169957859 insertion of <=200bp - T intron_variant ESAD-UK 6 169957862 169957862 single base substitution T G downstream_gene_variant ESAD-UK 6 169957862 169957862 single base substitution T G intron_variant ESAD-UK 6 169957925 169957925 single base substitution A T downstream_gene_variant ESAD-UK 6 169957925 169957925 single base substitution A T intron_variant ESAD-UK 6 169958108 169958108 single base substitution G A downstream_gene_variant ESAD-UK 6 169958108 169958108 single base substitution G A intron_variant ESAD-UK 6 169958874 169958874 single base substitution T C exon_variant ESAD-UK 6 169958874 169958874 single base substitution T C intron_variant ESAD-UK 6 169960262 169960262 single base substitution C T intron_variant ESAD-UK 6 169960701 169960701 single base substitution G C intron_variant ESAD-UK 6 169961675 169961675 single base substitution G A intron_variant ESAD-UK 6 169961956 169961956 single base substitution A T intron_variant ESAD-UK 6 169962311 169962311 single base substitution G T intron_variant ESAD-UK 6 169962379 169962379 single base substitution C T intron_variant ESAD-UK 6 169962402 169962402 single base substitution T C intron_variant ESAD-UK 6 169962644 169962644 single base substitution A G intron_variant ESAD-UK 6 169962698 169962698 single base substitution T G intron_variant ESAD-UK 6 169963542 169963542 single base substitution C A intron_variant ESAD-UK 6 169964080 169964080 single base substitution G A intron_variant ESAD-UK 6 169965100 169965100 single base substitution C T intron_variant ESAD-UK 6 169965674 169965674 single base substitution T G intron_variant ESAD-UK 6 169966333 169966333 single base substitution T G intron_variant ESAD-UK 6 169967764 169967764 single base substitution A G intron_variant ESAD-UK 6 169968290 169968290 single base substitution A G intron_variant ESAD-UK 6 169968886 169968886 single base substitution T G intron_variant ESAD-UK 6 169970614 169970614 single base substitution C A intron_variant ESAD-UK 6 169973313 169973313 single base substitution C A intron_variant ESAD-UK 6 169974169 169974169 single base substitution G A intron_variant ESAD-UK 6 169974349 169974349 single base substitution A T intron_variant ESAD-UK 6 169974485 169974485 single base substitution A G intron_variant ESAD-UK 6 169976431 169976431 single base substitution G A intron_variant ESAD-UK 6 169976633 169976633 single base substitution G A intron_variant ESAD-UK 6 169976895 169976895 single base substitution G T intron_variant ESAD-UK 6 169977708 169977708 single base substitution A T intron_variant ESAD-UK 6 169977813 169977813 single base substitution G A intron_variant ESAD-UK 6 169978928 169978928 single base substitution G A intron_variant ESAD-UK 6 169981281 169981281 single base substitution C G intron_variant ESAD-UK 6 169982080 169982080 insertion of <=200bp - T intron_variant ESAD-UK 6 169982478 169982478 single base substitution T A intron_variant ESAD-UK 6 169983183 169983183 single base substitution G A intron_variant ESAD-UK 6 169991306 169991306 single base substitution G A intron_variant ESAD-UK 6 169992340 169992342 deletion of <=200bp TTG - intron_variant ESAD-UK 6 169992474 169992474 deletion of <=200bp A - intron_variant ESAD-UK 6 169992871 169992871 single base substitution A C intron_variant ESAD-UK 6 169993602 169993602 insertion of <=200bp - A intron_variant ESAD-UK 6 169995252 169995252 single base substitution G C intron_variant ESAD-UK 6 169995852 169995863 deletion of <=200bp CTTCAATCTTAC - intron_variant ESAD-UK 6 169995973 169995973 single base substitution T A intron_variant ESAD-UK 6 169997774 169997774 single base substitution C A intron_variant ESAD-UK 6 169997886 169997886 single base substitution A C intron_variant ESAD-UK 6 169997923 169997923 deletion of <=200bp A - intron_variant ESAD-UK 6 169998058 169998058 single base substitution T C intron_variant ESAD-UK 6 169998899 169998899 single base substitution T C intron_variant ESAD-UK 6 170000601 170000601 single base substitution C T intron_variant ESAD-UK 6 170000743 170000743 single base substitution A G intron_variant ESAD-UK 6 170000878 170000878 single base substitution C A intron_variant ESAD-UK 6 170001408 170001408 single base substitution C G intron_variant ESAD-UK 6 170001507 170001507 single base substitution G C intron_variant ESAD-UK 6 170002326 170002326 single base substitution C A exon_variant ESAD-UK 6 170002326 170002326 single base substitution C A stop_gained E678* 2032G>T ESAD-UK 6 170002326 170002326 single base substitution C A stop_gained E805* 2413G>T ESAD-UK 6 170003026 170003026 single base substitution C T intron_variant ESAD-UK 6 170003535 170003535 single base substitution T G intron_variant ESAD-UK 6 170003976 170003976 single base substitution T G intron_variant ESAD-UK 6 170004828 170004830 deletion of <=200bp AAG - intron_variant ESAD-UK 6 170004966 170004966 insertion of <=200bp - A intron_variant ESAD-UK 6 170006181 170006181 single base substitution A C intron_variant ESAD-UK 6 170006287 170006287 single base substitution T A intron_variant ESAD-UK 6 170006638 170006638 single base substitution T G intron_variant ESAD-UK 6 170006663 170006663 single base substitution G T intron_variant ESAD-UK 6 170006791 170006791 single base substitution T G intron_variant ESAD-UK 6 170007769 170007769 single base substitution C A intron_variant ESAD-UK 6 170010596 170010596 single base substitution C T intron_variant ESAD-UK 6 170010636 170010636 single base substitution A G intron_variant ESAD-UK 6 170010795 170010795 single base substitution A G intron_variant ESAD-UK 6 170011254 170011254 single base substitution A T intron_variant ESAD-UK 6 170012654 170012654 single base substitution G A intron_variant ESAD-UK 6 170013586 170013586 single base substitution A G intron_variant ESAD-UK 6 170014109 170014109 single base substitution G C intron_variant ESAD-UK 6 170014813 170014813 single base substitution A T intron_variant ESAD-UK 6 170015379 170015379 single base substitution C T intron_variant ESAD-UK 6 170015705 170015705 single base substitution T A intron_variant ESAD-UK 6 170015821 170015821 single base substitution A C intron_variant ESAD-UK 6 170021366 170021367 deletion of <=200bp AC - intron_variant ESAD-UK 6 170021622 170021623 deletion of <=200bp AC - intron_variant ESAD-UK 6 170022762 170022762 single base substitution A G intron_variant ESAD-UK 6 170025472 170025472 single base substitution A C intron_variant ESAD-UK 6 170026780 170026780 single base substitution C G intron_variant ESAD-UK 6 170026891 170026891 single base substitution T G intron_variant ESAD-UK 6 170028018 170028018 single base substitution C T intron_variant ESAD-UK 6 170028065 170028065 single base substitution A T intron_variant ESAD-UK 6 170032420 170032420 single base substitution A C intron_variant ESAD-UK 6 170032679 170032679 deletion of <=200bp A - intron_variant ESAD-UK 6 170032833 170032833 single base substitution A C intron_variant ESAD-UK 6 170035118 170035118 single base substitution A C intron_variant ESAD-UK 6 170040942 170040942 single base substitution C T intron_variant ESAD-UK 6 170041961 170041961 single base substitution C T intron_variant ESAD-UK 6 170042399 170042399 insertion of <=200bp - C intron_variant ESAD-UK 6 170045415 170045415 single base substitution C T downstream_gene_variant ESAD-UK 6 170045415 170045415 single base substitution C T intron_variant ESAD-UK 6 170045482 170045482 single base substitution G C downstream_gene_variant ESAD-UK 6 170045482 170045482 single base substitution G C intron_variant ESAD-UK 6 170046038 170046038 single base substitution C A downstream_gene_variant ESAD-UK 6 170046038 170046038 single base substitution C A intron_variant ESAD-UK 6 170048882 170048882 single base substitution G A intron_variant ESAD-UK 6 170050158 170050158 single base substitution C T intron_variant ESAD-UK 6 170050158 170050158 single base substitution C T upstream_gene_variant ESAD-UK 6 170052273 170052273 single base substitution G A intron_variant ESAD-UK 6 170052273 170052273 single base substitution G A upstream_gene_variant ESAD-UK 6 170052435 170052435 single base substitution C T intron_variant ESAD-UK 6 170052435 170052435 single base substitution C T upstream_gene_variant ESAD-UK 6 170052805 170052805 single base substitution C T intron_variant ESAD-UK 6 170052805 170052805 single base substitution C T upstream_gene_variant ESAD-UK 6 170054504 170054504 single base substitution C T downstream_gene_variant ESAD-UK 6 170054504 170054504 single base substitution C T intron_variant ESAD-UK 6 170061385 170061385 single base substitution T C downstream_gene_variant ESAD-UK 6 170061385 170061385 single base substitution T C intron_variant ESAD-UK 6 170061385 170061385 single base substitution T C upstream_gene_variant ESAD-UK 6 170061570 170061570 single base substitution C A downstream_gene_variant ESAD-UK 6 170061570 170061570 single base substitution C A intron_variant ESAD-UK 6 170061570 170061570 single base substitution C A upstream_gene_variant ESAD-UK 6 170063453 170063453 insertion of <=200bp - A downstream_gene_variant ESAD-UK 6 170063453 170063453 insertion of <=200bp - A intron_variant ESAD-UK 6 170063453 170063453 insertion of <=200bp - A upstream_gene_variant ESAD-UK 6 170066106 170066106 single base substitution G A downstream_gene_variant ESAD-UK 6 170066106 170066106 single base substitution G A intron_variant ESAD-UK 6 170066106 170066106 single base substitution G A upstream_gene_variant ESAD-UK 6 170067986 170067986 single base substitution C T downstream_gene_variant ESAD-UK 6 170067986 170067986 single base substitution C T intron_variant ESAD-UK 6 170067986 170067986 single base substitution C T upstream_gene_variant ESAD-UK 6 170068688 170068688 single base substitution G A downstream_gene_variant ESAD-UK 6 170068688 170068688 single base substitution G A intron_variant ESAD-UK 6 170068688 170068688 single base substitution G A upstream_gene_variant ESAD-UK 6 170071416 170071416 single base substitution C A downstream_gene_variant ESAD-UK 6 170071416 170071416 single base substitution C A exon_variant ESAD-UK 6 170071416 170071416 single base substitution C A intron_variant ESAD-UK 6 170071416 170071416 single base substitution C A upstream_gene_variant ESAD-UK 6 170071450 170071450 single base substitution C T downstream_gene_variant ESAD-UK 6 170071450 170071450 single base substitution C T exon_variant ESAD-UK 6 170071450 170071450 single base substitution C T intron_variant ESAD-UK 6 170071450 170071450 single base substitution C T upstream_gene_variant ESAD-UK 6 170071532 170071532 single base substitution C T downstream_gene_variant ESAD-UK 6 170071532 170071532 single base substitution C T exon_variant ESAD-UK 6 170071532 170071532 single base substitution C T intron_variant ESAD-UK 6 170071532 170071532 single base substitution C T upstream_gene_variant ESAD-UK 6 170072203 170072203 single base substitution C G downstream_gene_variant ESAD-UK 6 170072203 170072203 single base substitution C G exon_variant ESAD-UK 6 170072203 170072203 single base substitution C G intron_variant ESAD-UK 6 170072203 170072203 single base substitution C G upstream_gene_variant ESAD-UK 6 170074308 170074308 insertion of <=200bp - A intron_variant ESAD-UK 6 170074308 170074308 insertion of <=200bp - A upstream_gene_variant ESAD-UK 6 170075006 170075006 single base substitution C T intron_variant ESAD-UK 6 170075006 170075006 single base substitution C T upstream_gene_variant ESAD-UK 6 170075252 170075252 single base substitution G A intron_variant ESAD-UK 6 170075252 170075252 single base substitution G A upstream_gene_variant ESAD-UK 6 170077211 170077211 single base substitution A C intron_variant ESAD-UK 6 170077285 170077289 deletion of <=200bp AAATG - intron_variant ESAD-UK 6 170077290 170077290 single base substitution A C intron_variant ESAD-UK 6 170077292 170077292 single base substitution T A intron_variant ESAD-UK 6 170077746 170077746 single base substitution C T intron_variant ESAD-UK 6 170078632 170078632 single base substitution T G intron_variant ESAD-UK 6 170081350 170081350 single base substitution A C intron_variant ESAD-UK 6 170082176 170082176 single base substitution C T intron_variant ESAD-UK 6 170083200 170083200 single base substitution T C intron_variant ESAD-UK 6 170083857 170083857 single base substitution A G intron_variant ESAD-UK 6 170083989 170083989 single base substitution G A intron_variant ESAD-UK 6 170087782 170087782 single base substitution G A intron_variant ESAD-UK 6 170090892 170090892 single base substitution G A intron_variant ESAD-UK 6 170092437 170092437 single base substitution A T intron_variant ESAD-UK 6 170092558 170092558 single base substitution G C intron_variant ESAD-UK 6 170092854 170092854 single base substitution C A intron_variant ESAD-UK 6 170095526 170095526 single base substitution C T intron_variant ESAD-UK 6 170098025 170098025 single base substitution G A intron_variant ESAD-UK 6 170099734 170099734 single base substitution C A intron_variant ESAD-UK 6 170101424 170101424 single base substitution G A intron_variant ESAD-UK 6 170104006 170104006 insertion of <=200bp - A upstream_gene_variant ESAD-UK 6 170104481 170104481 insertion of <=200bp - A upstream_gene_variant ESAD-UK 6 170105137 170105137 single base substitution C A upstream_gene_variant ESAD-UK 6 170106095 170106095 single base substitution G T upstream_gene_variant ESAD-UK 6 170106603 170106603 single base substitution G A upstream_gene_variant ESAD-UK 6 170106655 170106655 single base substitution A G upstream_gene_variant ESAD-UK 6 170106745 170106745 single base substitution A C upstream_gene_variant ESCA-CN 6 169942952 169942952 single base substitution A C intron_variant ESCA-CN 6 170002356 170002356 single base substitution G C exon_variant ESCA-CN 6 170002356 170002356 single base substitution G C missense_variant P668A 2002C>G ESCA-CN 6 170002356 170002356 single base substitution G C missense_variant P795A 2383C>G ESCA-CN 6 170002448 170002448 single base substitution A G intron_variant ESCA-CN 6 170033120 170033120 single base substitution C G exon_variant ESCA-CN 6 170033120 170033120 single base substitution C G missense_variant D589H 1765G>C ESCA-CN 6 170033120 170033120 single base substitution C G missense_variant D716H 2146G>C ESCA-CN 6 170059627 170059627 single base substitution G A downstream_gene_variant ESCA-CN 6 170059627 170059627 single base substitution G A intron_variant ESCA-CN 6 170105404 170105404 single base substitution G T upstream_gene_variant GBM-US 6 170036474 170036474 single base substitution T C intron_variant GBM-US 6 170036474 170036474 single base substitution T C missense_variant I539V 1615A>G GBM-US 6 170036474 170036474 single base substitution T C missense_variant I666V 1996A>G LAML-KR 6 169865156 169865156 single base substitution G C intron_variant LAML-KR 6 169881035 169881035 single base substitution T C intron_variant LAML-KR 6 169881238 169881238 single base substitution G A intron_variant LAML-KR 6 169913777 169913777 single base substitution A G intron_variant LAML-KR 6 170021411 170021411 single base substitution C T intron_variant LAML-KR 6 170039158 170039158 single base substitution A G intron_variant LAML-KR 6 170044100 170044100 single base substitution T A downstream_gene_variant LAML-KR 6 170044100 170044100 single base substitution T A intron_variant LAML-KR 6 170044193 170044193 single base substitution C A downstream_gene_variant LAML-KR 6 170044193 170044193 single base substitution C A intron_variant LAML-KR 6 170044540 170044540 single base substitution G C downstream_gene_variant LAML-KR 6 170044540 170044540 single base substitution G C intron_variant LAML-KR 6 170045487 170045487 single base substitution C A downstream_gene_variant LAML-KR 6 170045487 170045487 single base substitution C A intron_variant LAML-KR 6 170045683 170045683 single base substitution G A downstream_gene_variant LAML-KR 6 170045683 170045683 single base substitution G A intron_variant LAML-KR 6 170060934 170060934 single base substitution C T downstream_gene_variant LAML-KR 6 170060934 170060934 single base substitution C T intron_variant LAML-KR 6 170060934 170060934 single base substitution C T upstream_gene_variant LAML-KR 6 170061062 170061062 single base substitution T C downstream_gene_variant LAML-KR 6 170061062 170061062 single base substitution T C intron_variant LAML-KR 6 170061062 170061062 single base substitution T C upstream_gene_variant LAML-KR 6 170061158 170061158 single base substitution A G downstream_gene_variant LAML-KR 6 170061158 170061158 single base substitution A G intron_variant LAML-KR 6 170061158 170061158 single base substitution A G upstream_gene_variant LAML-KR 6 170090281 170090281 single base substitution A G intron_variant LGG-US 6 170052047 170052047 single base substitution G A exon_variant LGG-US 6 170052047 170052047 single base substitution G A missense_variant S120F 359C>T LGG-US 6 170052047 170052047 single base substitution G A missense_variant S360F 1079C>T LGG-US 6 170052047 170052047 single base substitution G A missense_variant S487F 1460C>T LGG-US 6 170052047 170052047 single base substitution G A upstream_gene_variant LICA-FR 6 169857778 169857778 single base substitution T C intron_variant LICA-FR 6 169900876 169900876 single base substitution T G intron_variant LICA-FR 6 169912766 169912766 single base substitution G C intron_variant LICA-FR 6 169951426 169951426 single base substitution C A intron_variant LICA-FR 6 169952552 169952552 single base substitution G A intron_variant LICA-FR 6 169982597 169982597 single base substitution C G intron_variant LICA-FR 6 170010789 170010789 single base substitution T A intron_variant LICA-FR 6 170013670 170013670 single base substitution T C exon_variant LICA-FR 6 170013670 170013670 single base substitution T C missense_variant D642G 1925A>G LICA-FR 6 170013670 170013670 single base substitution T C missense_variant D769G 2306A>G LICA-FR 6 170017018 170017018 single base substitution T C intron_variant LICA-FR 6 170044230 170044230 single base substitution G C downstream_gene_variant LICA-FR 6 170044230 170044230 single base substitution G C intron_variant LICA-FR 6 170062691 170062691 single base substitution A G downstream_gene_variant LICA-FR 6 170062691 170062691 single base substitution A G intron_variant LICA-FR 6 170062691 170062691 single base substitution A G upstream_gene_variant LICA-FR 6 170075944 170075944 single base substitution T A intron_variant LICA-FR 6 170100156 170100156 single base substitution C G intron_variant LIHC-US 6 170002368 170002368 single base substitution T C exon_variant LIHC-US 6 170002368 170002368 single base substitution T C missense_variant I664V 1990A>G LIHC-US 6 170002368 170002368 single base substitution T C missense_variant I791V 2371A>G LIHC-US 6 170033072 170033072 single base substitution G A exon_variant LIHC-US 6 170033072 170033072 single base substitution G A missense_variant R605W 1813C>T LIHC-US 6 170033072 170033072 single base substitution G A missense_variant R732W 2194C>T LIHC-US 6 170065609 170065609 single base substitution C A downstream_gene_variant LIHC-US 6 170065609 170065609 single base substitution C A exon_variant LIHC-US 6 170065609 170065609 single base substitution C A missense_variant Q125H 375G>T LIHC-US 6 170065609 170065609 single base substitution C A missense_variant Q252H 756G>T LIHC-US 6 170065609 170065609 single base substitution C A missense_variant S167I 500G>T LIHC-US 6 170065609 170065609 single base substitution C A upstream_gene_variant LIHC-US 6 170102922 170102922 single base substitution T A upstream_gene_variant LIHC-US 6 170105298 170105298 single base substitution T C upstream_gene_variant LINC-JP 6 169857933 169857933 single base substitution T C intron_variant LINC-JP 6 169858071 169858071 single base substitution A C intron_variant LINC-JP 6 169858101 169858101 single base substitution A T intron_variant LINC-JP 6 169858112 169858112 single base substitution G C intron_variant LINC-JP 6 169866006 169866006 single base substitution G C intron_variant LINC-JP 6 169878224 169878224 single base substitution G A intron_variant LINC-JP 6 169889797 169889797 single base substitution C T intron_variant LINC-JP 6 169905650 169905650 single base substitution A T intron_variant LINC-JP 6 169908034 169908034 single base substitution T A intron_variant LINC-JP 6 169930945 169930945 single base substitution T C intron_variant LINC-JP 6 169940672 169940672 single base substitution G C intron_variant LINC-JP 6 169949125 169949125 single base substitution A T intron_variant LINC-JP 6 169950530 169950530 single base substitution T C intron_variant LINC-JP 6 169951455 169951455 single base substitution A G intron_variant LINC-JP 6 169961687 169961687 single base substitution G C intron_variant LINC-JP 6 169964765 169964765 single base substitution C T intron_variant LINC-JP 6 169966110 169966110 single base substitution T A intron_variant LINC-JP 6 169968253 169968265 deletion of <=200bp CACTCAGGAACCA - intron_variant LINC-JP 6 169972821 169972821 single base substitution A T intron_variant LINC-JP 6 169982828 169982828 single base substitution T A intron_variant LINC-JP 6 169988660 169988660 single base substitution C A intron_variant LINC-JP 6 169989287 169989287 single base substitution G A intron_variant LINC-JP 6 169990056 169990056 single base substitution C A intron_variant LINC-JP 6 170002177 170002177 single base substitution C T intron_variant LINC-JP 6 170002744 170002744 single base substitution A C intron_variant LINC-JP 6 170012673 170012673 single base substitution G T intron_variant LINC-JP 6 170032235 170032235 single base substitution G C intron_variant LINC-JP 6 170051975 170051975 single base substitution C A intron_variant LINC-JP 6 170051975 170051975 single base substitution C A upstream_gene_variant LINC-JP 6 170054545 170054545 single base substitution C T downstream_gene_variant LINC-JP 6 170054545 170054545 single base substitution C T intron_variant LINC-JP 6 170054831 170054831 insertion of <=200bp - CA downstream_gene_variant LINC-JP 6 170054831 170054831 insertion of <=200bp - CA intron_variant LINC-JP 6 170061062 170061062 single base substitution T C downstream_gene_variant LINC-JP 6 170061062 170061062 single base substitution T C intron_variant LINC-JP 6 170061062 170061062 single base substitution T C upstream_gene_variant LINC-JP 6 170064279 170064279 single base substitution C G 3_prime_UTR_variant LINC-JP 6 170064279 170064279 single base substitution C G downstream_gene_variant LINC-JP 6 170064279 170064279 single base substitution C G exon_variant LINC-JP 6 170064279 170064279 single base substitution C G missense_variant G169A 506G>C LINC-JP 6 170064279 170064279 single base substitution C G missense_variant G296A 887G>C LINC-JP 6 170064279 170064279 single base substitution C G upstream_gene_variant LINC-JP 6 170068216 170068216 single base substitution C T downstream_gene_variant LINC-JP 6 170068216 170068216 single base substitution C T intron_variant LINC-JP 6 170068216 170068216 single base substitution C T synonymous_variant P174P 522G>A LINC-JP 6 170068216 170068216 single base substitution C T upstream_gene_variant LINC-JP 6 170086730 170086730 single base substitution A T intron_variant LINC-JP 6 170088215 170088215 single base substitution T C intron_variant LINC-JP 6 170103777 170103777 single base substitution A G upstream_gene_variant LIRI-JP 6 169854698 169854698 single base substitution T C downstream_gene_variant LIRI-JP 6 169855411 169855411 single base substitution C G downstream_gene_variant LIRI-JP 6 169856007 169856007 single base substitution T C downstream_gene_variant LIRI-JP 6 169857764 169857764 single base substitution T C intron_variant LIRI-JP 6 169857786 169857786 single base substitution T C intron_variant LIRI-JP 6 169857812 169857812 single base substitution G T intron_variant LIRI-JP 6 169860244 169860244 single base substitution C A intron_variant LIRI-JP 6 169861197 169861197 single base substitution T C intron_variant LIRI-JP 6 169862943 169862943 single base substitution A G intron_variant LIRI-JP 6 169863695 169863695 single base substitution T A intron_variant LIRI-JP 6 169864280 169864280 single base substitution C T intron_variant LIRI-JP 6 169865928 169865928 single base substitution T C intron_variant LIRI-JP 6 169866154 169866154 single base substitution T C intron_variant LIRI-JP 6 169866204 169866204 single base substitution A G intron_variant LIRI-JP 6 169866308 169866308 single base substitution C T intron_variant LIRI-JP 6 169867350 169867350 single base substitution C T intron_variant LIRI-JP 6 169869370 169869370 single base substitution A G intron_variant LIRI-JP 6 169870205 169870205 single base substitution T C intron_variant LIRI-JP 6 169872613 169872613 single base substitution T C intron_variant LIRI-JP 6 169874374 169874374 single base substitution T C intron_variant LIRI-JP 6 169878239 169878239 single base substitution C A intron_variant LIRI-JP 6 169878367 169878367 single base substitution C A intron_variant LIRI-JP 6 169880331 169880331 single base substitution C A intron_variant LIRI-JP 6 169882549 169882549 single base substitution C T intron_variant LIRI-JP 6 169882709 169882709 single base substitution T G intron_variant LIRI-JP 6 169883426 169883426 single base substitution A C intron_variant LIRI-JP 6 169884639 169884639 single base substitution A T intron_variant LIRI-JP 6 169890049 169890049 single base substitution A G intron_variant LIRI-JP 6 169895463 169895463 single base substitution C G intron_variant LIRI-JP 6 169897577 169897577 single base substitution G A intron_variant LIRI-JP 6 169897880 169897880 single base substitution C A intron_variant LIRI-JP 6 169898265 169898265 single base substitution T C intron_variant LIRI-JP 6 169900097 169900097 single base substitution T C intron_variant LIRI-JP 6 169900709 169900709 single base substitution G A intron_variant LIRI-JP 6 169901312 169901312 single base substitution G A intron_variant LIRI-JP 6 169902150 169902150 single base substitution C T intron_variant LIRI-JP 6 169902976 169902976 single base substitution G C intron_variant LIRI-JP 6 169904005 169904005 single base substitution C A intron_variant LIRI-JP 6 169905650 169905650 single base substitution A T intron_variant LIRI-JP 6 169905844 169905844 single base substitution G A intron_variant LIRI-JP 6 169906379 169906379 single base substitution T G intron_variant LIRI-JP 6 169908832 169908832 single base substitution G A intron_variant LIRI-JP 6 169909265 169909265 single base substitution G A intron_variant LIRI-JP 6 169911995 169911995 single base substitution C T intron_variant LIRI-JP 6 169912913 169912913 single base substitution G T intron_variant LIRI-JP 6 169916142 169916142 single base substitution G C intron_variant LIRI-JP 6 169917245 169917245 single base substitution T C intron_variant LIRI-JP 6 169919385 169919385 single base substitution T A intron_variant LIRI-JP 6 169920591 169920591 single base substitution T C intron_variant LIRI-JP 6 169920785 169920785 single base substitution A C intron_variant LIRI-JP 6 169921481 169921481 single base substitution T C intron_variant LIRI-JP 6 169922426 169922426 single base substitution T C intron_variant LIRI-JP 6 169923696 169923696 single base substitution G A intron_variant LIRI-JP 6 169924334 169924334 single base substitution A G intron_variant LIRI-JP 6 169924921 169924921 single base substitution T C intron_variant LIRI-JP 6 169925447 169925447 single base substitution C T intron_variant LIRI-JP 6 169927310 169927310 single base substitution C G intron_variant LIRI-JP 6 169929295 169929295 single base substitution A C intron_variant LIRI-JP 6 169930394 169930394 single base substitution G A intron_variant LIRI-JP 6 169932422 169932422 single base substitution G A intron_variant LIRI-JP 6 169939205 169939205 single base substitution C A intron_variant LIRI-JP 6 169941638 169941638 single base substitution G C intron_variant LIRI-JP 6 169947266 169947266 single base substitution A C intron_variant LIRI-JP 6 169947745 169947745 single base substitution C G intron_variant LIRI-JP 6 169949214 169949214 single base substitution C G intron_variant LIRI-JP 6 169955823 169955823 single base substitution A C downstream_gene_variant LIRI-JP 6 169955823 169955823 single base substitution A C intron_variant LIRI-JP 6 169956340 169956340 single base substitution T A downstream_gene_variant LIRI-JP 6 169956340 169956340 single base substitution T A intron_variant LIRI-JP 6 169957472 169957472 single base substitution G A downstream_gene_variant LIRI-JP 6 169957472 169957472 single base substitution G A intron_variant LIRI-JP 6 169960442 169960442 single base substitution A G intron_variant LIRI-JP 6 169960897 169960897 single base substitution G A intron_variant LIRI-JP 6 169965907 169965907 single base substitution G A intron_variant LIRI-JP 6 169966799 169966806 deletion of <=200bp TGCGAGGC - intron_variant LIRI-JP 6 169966824 169966824 single base substitution G T intron_variant LIRI-JP 6 169967263 169967263 single base substitution T C intron_variant LIRI-JP 6 169968179 169968179 single base substitution C T intron_variant LIRI-JP 6 169970882 169970882 single base substitution G A intron_variant LIRI-JP 6 169970883 169970883 single base substitution C T intron_variant LIRI-JP 6 169972782 169972782 single base substitution C T intron_variant LIRI-JP 6 169973003 169973003 single base substitution T A intron_variant LIRI-JP 6 169973125 169973125 single base substitution G A intron_variant LIRI-JP 6 169974413 169974413 single base substitution A G intron_variant LIRI-JP 6 169977102 169977105 deletion of <=200bp TATG - intron_variant LIRI-JP 6 169977612 169977612 single base substitution G A intron_variant LIRI-JP 6 169977876 169977876 single base substitution A G intron_variant LIRI-JP 6 169980438 169980438 single base substitution T C intron_variant LIRI-JP 6 169980711 169980711 single base substitution T C intron_variant LIRI-JP 6 169982737 169982737 single base substitution C T intron_variant LIRI-JP 6 169988407 169988407 single base substitution A T intron_variant LIRI-JP 6 169990678 169990678 single base substitution C T intron_variant LIRI-JP 6 169992059 169992059 single base substitution C T intron_variant LIRI-JP 6 169992219 169992219 single base substitution G T intron_variant LIRI-JP 6 169992765 169992765 single base substitution T A intron_variant LIRI-JP 6 169993086 169993086 single base substitution G T intron_variant LIRI-JP 6 169994381 169994381 single base substitution A T intron_variant LIRI-JP 6 169994563 169994563 single base substitution A G intron_variant LIRI-JP 6 169998617 169998617 single base substitution G A intron_variant LIRI-JP 6 169999160 169999160 single base substitution T G intron_variant LIRI-JP 6 169999885 169999885 single base substitution T C intron_variant LIRI-JP 6 170001769 170001769 single base substitution C T intron_variant LIRI-JP 6 170002398 170002398 single base substitution C A exon_variant LIRI-JP 6 170002398 170002398 single base substitution C A missense_variant G654W 1960G>T LIRI-JP 6 170002398 170002398 single base substitution C A missense_variant G781W 2341G>T LIRI-JP 6 170002721 170002721 single base substitution T C intron_variant LIRI-JP 6 170004564 170004564 single base substitution C T intron_variant LIRI-JP 6 170007021 170007021 single base substitution C T intron_variant LIRI-JP 6 170008579 170008579 single base substitution T C intron_variant LIRI-JP 6 170009590 170009590 single base substitution T C intron_variant LIRI-JP 6 170009605 170009605 single base substitution C T intron_variant LIRI-JP 6 170013046 170013046 single base substitution C A intron_variant LIRI-JP 6 170015537 170015537 single base substitution T G intron_variant LIRI-JP 6 170016120 170016121 deletion of <=200bp TA - intron_variant LIRI-JP 6 170016371 170016371 single base substitution G A intron_variant LIRI-JP 6 170017535 170017535 single base substitution G A intron_variant LIRI-JP 6 170019878 170019878 single base substitution T C intron_variant LIRI-JP 6 170023532 170023532 single base substitution G A intron_variant LIRI-JP 6 170023686 170023686 single base substitution A C intron_variant LIRI-JP 6 170026122 170026122 single base substitution A C intron_variant LIRI-JP 6 170029959 170029959 single base substitution C T intron_variant LIRI-JP 6 170031010 170031010 single base substitution A C intron_variant LIRI-JP 6 170034189 170034189 single base substitution T C intron_variant LIRI-JP 6 170034509 170034509 single base substitution C T intron_variant LIRI-JP 6 170035741 170035741 single base substitution T A intron_variant LIRI-JP 6 170035937 170035937 single base substitution T C intron_variant LIRI-JP 6 170036495 170036495 single base substitution T G intron_variant LIRI-JP 6 170036495 170036495 single base substitution T G missense_variant I532L 1594A>C LIRI-JP 6 170036495 170036495 single base substitution T G missense_variant I659L 1975A>C LIRI-JP 6 170037260 170037260 single base substitution T C intron_variant LIRI-JP 6 170037429 170037429 single base substitution T A intron_variant LIRI-JP 6 170040647 170040648 deletion of <=200bp AA - intron_variant LIRI-JP 6 170040710 170040710 single base substitution G T intron_variant LIRI-JP 6 170043169 170043169 single base substitution T C downstream_gene_variant LIRI-JP 6 170043169 170043169 single base substitution T C intron_variant LIRI-JP 6 170047983 170047983 single base substitution G T intron_variant LIRI-JP 6 170049687 170049687 single base substitution A G intron_variant LIRI-JP 6 170049687 170049687 single base substitution A G upstream_gene_variant LIRI-JP 6 170050957 170050957 single base substitution C T intron_variant LIRI-JP 6 170050957 170050957 single base substitution C T upstream_gene_variant LIRI-JP 6 170051975 170051975 single base substitution C T intron_variant LIRI-JP 6 170051975 170051975 single base substitution C T upstream_gene_variant LIRI-JP 6 170052585 170052585 single base substitution C T intron_variant LIRI-JP 6 170052585 170052585 single base substitution C T upstream_gene_variant LIRI-JP 6 170053206 170053206 single base substitution G A downstream_gene_variant LIRI-JP 6 170053206 170053206 single base substitution G A intron_variant LIRI-JP 6 170053206 170053206 single base substitution G A upstream_gene_variant LIRI-JP 6 170053592 170053592 single base substitution C A downstream_gene_variant LIRI-JP 6 170053592 170053592 single base substitution C A intron_variant LIRI-JP 6 170053592 170053592 single base substitution C A upstream_gene_variant LIRI-JP 6 170055964 170055964 single base substitution C T downstream_gene_variant LIRI-JP 6 170055964 170055964 single base substitution C T intron_variant LIRI-JP 6 170060379 170060379 single base substitution C T downstream_gene_variant LIRI-JP 6 170060379 170060379 single base substitution C T intron_variant LIRI-JP 6 170061799 170061799 single base substitution T C downstream_gene_variant LIRI-JP 6 170061799 170061799 single base substitution T C intron_variant LIRI-JP 6 170061799 170061799 single base substitution T C upstream_gene_variant LIRI-JP 6 170062254 170062254 single base substitution G T downstream_gene_variant LIRI-JP 6 170062254 170062254 single base substitution G T intron_variant LIRI-JP 6 170062254 170062254 single base substitution G T upstream_gene_variant LIRI-JP 6 170064189 170064189 single base substitution G C downstream_gene_variant LIRI-JP 6 170064189 170064189 single base substitution G C intron_variant LIRI-JP 6 170064189 170064189 single base substitution G C upstream_gene_variant LIRI-JP 6 170064596 170064596 single base substitution G A downstream_gene_variant LIRI-JP 6 170064596 170064596 single base substitution G A exon_variant LIRI-JP 6 170064596 170064596 single base substitution G A intron_variant LIRI-JP 6 170064596 170064596 single base substitution G A upstream_gene_variant LIRI-JP 6 170066703 170066703 single base substitution G A downstream_gene_variant LIRI-JP 6 170066703 170066703 single base substitution G A exon_variant LIRI-JP 6 170066703 170066703 single base substitution G A intron_variant LIRI-JP 6 170066703 170066703 single base substitution G A upstream_gene_variant LIRI-JP 6 170068386 170068386 single base substitution G A downstream_gene_variant LIRI-JP 6 170068386 170068386 single base substitution G A intron_variant LIRI-JP 6 170068386 170068386 single base substitution G A upstream_gene_variant LIRI-JP 6 170069607 170069607 single base substitution C T downstream_gene_variant LIRI-JP 6 170069607 170069607 single base substitution C T intron_variant LIRI-JP 6 170069607 170069607 single base substitution C T upstream_gene_variant LIRI-JP 6 170072409 170072409 single base substitution T C downstream_gene_variant LIRI-JP 6 170072409 170072409 single base substitution T C exon_variant LIRI-JP 6 170072409 170072409 single base substitution T C synonymous_variant A91A 273A>G LIRI-JP 6 170072409 170072409 single base substitution T C upstream_gene_variant LIRI-JP 6 170073049 170073049 single base substitution C G intron_variant LIRI-JP 6 170073049 170073049 single base substitution C G upstream_gene_variant LIRI-JP 6 170073087 170073087 single base substitution G A intron_variant LIRI-JP 6 170073087 170073087 single base substitution G A upstream_gene_variant LIRI-JP 6 170074487 170074487 single base substitution G T intron_variant LIRI-JP 6 170074487 170074487 single base substitution G T upstream_gene_variant LIRI-JP 6 170077653 170077653 single base substitution A T intron_variant LIRI-JP 6 170078747 170078747 single base substitution A T intron_variant LIRI-JP 6 170082752 170082752 single base substitution T A intron_variant LIRI-JP 6 170083288 170083288 single base substitution C T intron_variant LIRI-JP 6 170085701 170085701 single base substitution G A intron_variant LIRI-JP 6 170088055 170088055 single base substitution A G intron_variant LIRI-JP 6 170090767 170090767 single base substitution T C intron_variant LIRI-JP 6 170090862 170090862 single base substitution A G intron_variant LIRI-JP 6 170097362 170097362 single base substitution A T intron_variant LIRI-JP 6 170101591 170101591 single base substitution C A intron_variant LIRI-JP 6 170102677 170102677 single base substitution T G upstream_gene_variant LIRI-JP 6 170102888 170102888 single base substitution G A upstream_gene_variant LIRI-JP 6 170106296 170106296 single base substitution T A upstream_gene_variant LUSC-KR 6 169855738 169855738 single base substitution A G downstream_gene_variant LUSC-KR 6 169857052 169857052 single base substitution G C downstream_gene_variant LUSC-KR 6 169857231 169857231 single base substitution C G downstream_gene_variant LUSC-KR 6 169859746 169859746 single base substitution C G intron_variant LUSC-KR 6 169861222 169861222 single base substitution C A intron_variant LUSC-KR 6 169864437 169864437 single base substitution T G intron_variant LUSC-KR 6 169865020 169865020 single base substitution C G intron_variant LUSC-KR 6 169866808 169866808 single base substitution G A intron_variant LUSC-KR 6 169868522 169868522 single base substitution C T intron_variant LUSC-KR 6 169869192 169869192 single base substitution G A intron_variant LUSC-KR 6 169875031 169875031 single base substitution C T intron_variant LUSC-KR 6 169878984 169878984 single base substitution C T intron_variant LUSC-KR 6 169879047 169879047 single base substitution A T intron_variant LUSC-KR 6 169880152 169880152 single base substitution C G intron_variant LUSC-KR 6 169880367 169880367 single base substitution C A intron_variant LUSC-KR 6 169881004 169881004 single base substitution G A intron_variant LUSC-KR 6 169881025 169881025 single base substitution T A intron_variant LUSC-KR 6 169881596 169881596 single base substitution C G intron_variant LUSC-KR 6 169881828 169881828 single base substitution G C intron_variant LUSC-KR 6 169884385 169884385 single base substitution C G intron_variant LUSC-KR 6 169884522 169884522 single base substitution C A intron_variant LUSC-KR 6 169884576 169884576 single base substitution C G intron_variant LUSC-KR 6 169887437 169887437 single base substitution T C intron_variant LUSC-KR 6 169888506 169888506 single base substitution C G intron_variant LUSC-KR 6 169888694 169888694 single base substitution C G intron_variant LUSC-KR 6 169892688 169892688 single base substitution G A intron_variant LUSC-KR 6 169892747 169892747 single base substitution T C intron_variant LUSC-KR 6 169894790 169894790 single base substitution A G intron_variant LUSC-KR 6 169898742 169898742 single base substitution C A intron_variant LUSC-KR 6 169902380 169902380 single base substitution T A intron_variant LUSC-KR 6 169903666 169903666 single base substitution G C intron_variant LUSC-KR 6 169906554 169906554 single base substitution T A intron_variant LUSC-KR 6 169907105 169907105 single base substitution C T intron_variant LUSC-KR 6 169907968 169907968 single base substitution C T intron_variant LUSC-KR 6 169909424 169909424 single base substitution C T intron_variant LUSC-KR 6 169913538 169913538 single base substitution G C intron_variant LUSC-KR 6 169913777 169913777 single base substitution A G intron_variant LUSC-KR 6 169914044 169914044 single base substitution C T intron_variant LUSC-KR 6 169917337 169917337 single base substitution C T intron_variant LUSC-KR 6 169919972 169919972 single base substitution C A intron_variant LUSC-KR 6 169919973 169919973 single base substitution C A intron_variant LUSC-KR 6 169926576 169926576 single base substitution T G intron_variant LUSC-KR 6 169928580 169928580 single base substitution C T intron_variant LUSC-KR 6 169931528 169931528 single base substitution G T intron_variant LUSC-KR 6 169935410 169935410 single base substitution T G intron_variant LUSC-KR 6 169936096 169936096 single base substitution C A intron_variant LUSC-KR 6 169944541 169944541 single base substitution G T intron_variant LUSC-KR 6 169944601 169944601 single base substitution C T intron_variant LUSC-KR 6 169947873 169947873 single base substitution T A intron_variant LUSC-KR 6 169955281 169955281 single base substitution C A downstream_gene_variant LUSC-KR 6 169955281 169955281 single base substitution C A intron_variant LUSC-KR 6 169957969 169957969 single base substitution C T downstream_gene_variant LUSC-KR 6 169957969 169957969 single base substitution C T intron_variant LUSC-KR 6 169959211 169959211 single base substitution A G exon_variant LUSC-KR 6 169959211 169959211 single base substitution A G intron_variant LUSC-KR 6 169959886 169959886 single base substitution G A exon_variant LUSC-KR 6 169959886 169959886 single base substitution G A intron_variant LUSC-KR 6 169961130 169961130 single base substitution G C intron_variant LUSC-KR 6 169961810 169961810 single base substitution C T intron_variant LUSC-KR 6 169967100 169967100 single base substitution C G intron_variant LUSC-KR 6 169968951 169968951 single base substitution C T intron_variant LUSC-KR 6 169969111 169969111 single base substitution C G intron_variant LUSC-KR 6 169969432 169969432 single base substitution C A intron_variant LUSC-KR 6 169972858 169972858 single base substitution C A intron_variant LUSC-KR 6 169975398 169975398 single base substitution A C intron_variant LUSC-KR 6 169978596 169978596 single base substitution T C intron_variant LUSC-KR 6 169982896 169982896 single base substitution C A intron_variant LUSC-KR 6 169984084 169984084 single base substitution C A intron_variant LUSC-KR 6 169986203 169986203 single base substitution C T intron_variant LUSC-KR 6 169987332 169987332 single base substitution A T intron_variant LUSC-KR 6 169992371 169992371 single base substitution T A intron_variant LUSC-KR 6 169994401 169994401 single base substitution A G intron_variant LUSC-KR 6 169995897 169995897 single base substitution C T intron_variant LUSC-KR 6 169998107 169998107 single base substitution C A intron_variant LUSC-KR 6 170000789 170000789 single base substitution C T intron_variant LUSC-KR 6 170002241 170002241 single base substitution C T intron_variant LUSC-KR 6 170002542 170002542 single base substitution T C intron_variant LUSC-KR 6 170003126 170003126 single base substitution C T intron_variant LUSC-KR 6 170009158 170009158 single base substitution C A intron_variant LUSC-KR 6 170009965 170009965 single base substitution C A intron_variant LUSC-KR 6 170021055 170021055 single base substitution G C intron_variant LUSC-KR 6 170022476 170022476 single base substitution G A intron_variant LUSC-KR 6 170023736 170023736 single base substitution C A intron_variant LUSC-KR 6 170025110 170025110 single base substitution C G intron_variant LUSC-KR 6 170031909 170031909 single base substitution T C intron_variant LUSC-KR 6 170037312 170037312 single base substitution C T intron_variant LUSC-KR 6 170038436 170038436 single base substitution A G intron_variant LUSC-KR 6 170039158 170039158 single base substitution A G intron_variant LUSC-KR 6 170039319 170039319 single base substitution C T intron_variant LUSC-KR 6 170041111 170041111 single base substitution C A intron_variant LUSC-KR 6 170042555 170042555 single base substitution C A intron_variant LUSC-KR 6 170044193 170044193 single base substitution C A downstream_gene_variant LUSC-KR 6 170044193 170044193 single base substitution C A intron_variant LUSC-KR 6 170044199 170044199 single base substitution G C downstream_gene_variant LUSC-KR 6 170044199 170044199 single base substitution G C intron_variant LUSC-KR 6 170044261 170044261 single base substitution G C downstream_gene_variant LUSC-KR 6 170044261 170044261 single base substitution G C intron_variant LUSC-KR 6 170044286 170044286 single base substitution A T downstream_gene_variant LUSC-KR 6 170044286 170044286 single base substitution A T intron_variant LUSC-KR 6 170044428 170044428 single base substitution C G downstream_gene_variant LUSC-KR 6 170044428 170044428 single base substitution C G intron_variant LUSC-KR 6 170044720 170044720 single base substitution C A downstream_gene_variant LUSC-KR 6 170044720 170044720 single base substitution C A intron_variant LUSC-KR 6 170047460 170047460 single base substitution C G downstream_gene_variant LUSC-KR 6 170047460 170047460 single base substitution C G intron_variant LUSC-KR 6 170048783 170048783 single base substitution C T intron_variant LUSC-KR 6 170048878 170048878 single base substitution C G intron_variant LUSC-KR 6 170060808 170060808 single base substitution G A 3_prime_UTR_variant LUSC-KR 6 170060808 170060808 single base substitution G A downstream_gene_variant LUSC-KR 6 170060808 170060808 single base substitution G A exon_variant LUSC-KR 6 170060808 170060808 single base substitution G A synonymous_variant F233F 699C>T LUSC-KR 6 170060808 170060808 single base substitution G A synonymous_variant F360F 1080C>T LUSC-KR 6 170060808 170060808 single base substitution G A upstream_gene_variant LUSC-KR 6 170060934 170060934 single base substitution C T downstream_gene_variant LUSC-KR 6 170060934 170060934 single base substitution C T intron_variant LUSC-KR 6 170060934 170060934 single base substitution C T upstream_gene_variant LUSC-KR 6 170061062 170061062 single base substitution T C downstream_gene_variant LUSC-KR 6 170061062 170061062 single base substitution T C intron_variant LUSC-KR 6 170061062 170061062 single base substitution T C upstream_gene_variant LUSC-KR 6 170061158 170061158 single base substitution A G downstream_gene_variant LUSC-KR 6 170061158 170061158 single base substitution A G intron_variant LUSC-KR 6 170061158 170061158 single base substitution A G upstream_gene_variant LUSC-KR 6 170061255 170061255 single base substitution C T downstream_gene_variant LUSC-KR 6 170061255 170061255 single base substitution C T intron_variant LUSC-KR 6 170061255 170061255 single base substitution C T upstream_gene_variant LUSC-KR 6 170062726 170062726 single base substitution T A downstream_gene_variant LUSC-KR 6 170062726 170062726 single base substitution T A intron_variant LUSC-KR 6 170062726 170062726 single base substitution T A upstream_gene_variant LUSC-KR 6 170068180 170068180 single base substitution A G downstream_gene_variant LUSC-KR 6 170068180 170068180 single base substitution A G exon_variant LUSC-KR 6 170068180 170068180 single base substitution A G intron_variant LUSC-KR 6 170068180 170068180 single base substitution A G synonymous_variant V186V 558T>C LUSC-KR 6 170068180 170068180 single base substitution A G upstream_gene_variant LUSC-KR 6 170075286 170075286 single base substitution G A intron_variant LUSC-KR 6 170075286 170075286 single base substitution G A upstream_gene_variant LUSC-KR 6 170076682 170076682 single base substitution T C intron_variant LUSC-KR 6 170080886 170080886 single base substitution G C intron_variant LUSC-KR 6 170082721 170082721 single base substitution C T intron_variant LUSC-KR 6 170086925 170086925 single base substitution T A intron_variant LUSC-KR 6 170086949 170086949 single base substitution C A intron_variant LUSC-KR 6 170090112 170090112 single base substitution A G intron_variant LUSC-KR 6 170090642 170090642 single base substitution C A intron_variant LUSC-KR 6 170093241 170093241 single base substitution C A intron_variant LUSC-KR 6 170093911 170093911 single base substitution C A intron_variant LUSC-KR 6 170096157 170096157 single base substitution C A intron_variant LUSC-KR 6 170096308 170096308 single base substitution C T intron_variant LUSC-KR 6 170097431 170097431 single base substitution C T intron_variant LUSC-KR 6 170102136 170102136 single base substitution C T 5_prime_UTR_variant LUSC-KR 6 170102136 170102136 single base substitution C T upstream_gene_variant LUSC-KR 6 170102214 170102214 single base substitution C G upstream_gene_variant LUSC-KR 6 170102215 170102215 single base substitution T G upstream_gene_variant LUSC-KR 6 170103582 170103582 single base substitution C T upstream_gene_variant LUSC-US 6 170058390 170058390 single base substitution C G downstream_gene_variant LUSC-US 6 170058390 170058390 single base substitution C G exon_variant LUSC-US 6 170058390 170058390 single base substitution C G missense_variant A335P 1003G>C LUSC-US 6 170058390 170058390 single base substitution C G missense_variant A462P 1384G>C LUSC-US 6 170058390 170058390 single base substitution C G missense_variant A95P 283G>C LUSC-US 6 170068228 170068228 single base substitution T G downstream_gene_variant LUSC-US 6 170068228 170068228 single base substitution T G intron_variant LUSC-US 6 170068228 170068228 single base substitution T G missense_variant K170N 510A>C LUSC-US 6 170068228 170068228 single base substitution T G upstream_gene_variant LUSC-US 6 170103065 170103065 single base substitution G T upstream_gene_variant LUSC-US 6 170105257 170105257 single base substitution A G upstream_gene_variant MALY-DE 6 169853510 169853510 single base substitution G A downstream_gene_variant MALY-DE 6 169855025 169855025 single base substitution C T downstream_gene_variant MALY-DE 6 169857413 169857413 single base substitution G T 3_prime_UTR_variant MALY-DE 6 169857413 169857413 single base substitution G T exon_variant MALY-DE 6 169861085 169861085 insertion of <=200bp - A intron_variant MALY-DE 6 169892838 169892838 single base substitution A C intron_variant MALY-DE 6 169892997 169892997 single base substitution A C intron_variant MALY-DE 6 169893593 169893593 deletion of <=200bp T - intron_variant MALY-DE 6 169895987 169895987 deletion of <=200bp A - intron_variant MALY-DE 6 169897652 169897652 deletion of <=200bp A - intron_variant MALY-DE 6 169903811 169903811 single base substitution G A intron_variant MALY-DE 6 169908312 169908312 single base substitution T G intron_variant MALY-DE 6 169910893 169910893 deletion of <=200bp A - intron_variant MALY-DE 6 169913657 169913657 single base substitution C T intron_variant MALY-DE 6 169913744 169913744 single base substitution A G intron_variant MALY-DE 6 169913810 169913810 single base substitution A G intron_variant MALY-DE 6 169914469 169914469 single base substitution A C intron_variant MALY-DE 6 169916039 169916039 single base substitution C A intron_variant MALY-DE 6 169919289 169919289 single base substitution T A intron_variant MALY-DE 6 169921906 169921906 single base substitution A C intron_variant MALY-DE 6 169932573 169932573 single base substitution T A intron_variant MALY-DE 6 169932623 169932623 deletion of <=200bp T - intron_variant MALY-DE 6 169935045 169935045 single base substitution G T intron_variant MALY-DE 6 169935635 169935635 single base substitution A G intron_variant MALY-DE 6 169938709 169938709 single base substitution T C intron_variant MALY-DE 6 169947465 169947465 insertion of <=200bp - A intron_variant MALY-DE 6 169959293 169959293 single base substitution G C exon_variant MALY-DE 6 169959293 169959293 single base substitution G C intron_variant MALY-DE 6 169961678 169961678 insertion of <=200bp - A intron_variant MALY-DE 6 169963948 169963948 single base substitution A C intron_variant MALY-DE 6 169966200 169966200 single base substitution G A intron_variant MALY-DE 6 169967806 169967806 single base substitution C T intron_variant MALY-DE 6 169968253 169968265 deletion of <=200bp CACTCAGGAACCA - intron_variant MALY-DE 6 169983487 169983487 single base substitution C T intron_variant MALY-DE 6 169986581 169986581 single base substitution A C intron_variant MALY-DE 6 169990220 169990220 single base substitution T G intron_variant MALY-DE 6 169993049 169993049 single base substitution G A intron_variant MALY-DE 6 169996947 169996947 single base substitution A C intron_variant MALY-DE 6 170004203 170004203 single base substitution A C intron_variant MALY-DE 6 170010305 170010305 single base substitution G T intron_variant MALY-DE 6 170013504 170013504 single base substitution T C intron_variant MALY-DE 6 170013581 170013581 single base substitution G A intron_variant MALY-DE 6 170018580 170018580 single base substitution C G intron_variant MALY-DE 6 170020507 170020507 single base substitution C T intron_variant MALY-DE 6 170022576 170022576 single base substitution A G intron_variant MALY-DE 6 170025886 170025886 single base substitution G A intron_variant MALY-DE 6 170027706 170027706 single base substitution T A intron_variant MALY-DE 6 170044438 170044438 single base substitution T C downstream_gene_variant MALY-DE 6 170044438 170044438 single base substitution T C intron_variant MALY-DE 6 170047001 170047001 single base substitution C T downstream_gene_variant MALY-DE 6 170047001 170047001 single base substitution C T intron_variant MALY-DE 6 170053399 170053399 single base substitution C T downstream_gene_variant MALY-DE 6 170053399 170053399 single base substitution C T intron_variant MALY-DE 6 170053399 170053399 single base substitution C T upstream_gene_variant MALY-DE 6 170057531 170057531 single base substitution C A downstream_gene_variant MALY-DE 6 170057531 170057531 single base substitution C A intron_variant MALY-DE 6 170069147 170069147 single base substitution T G downstream_gene_variant MALY-DE 6 170069147 170069147 single base substitution T G intron_variant MALY-DE 6 170069147 170069147 single base substitution T G upstream_gene_variant MALY-DE 6 170080184 170080184 deletion of <=200bp T - intron_variant MALY-DE 6 170081592 170081592 single base substitution T G intron_variant MALY-DE 6 170098504 170098505 deletion of <=200bp AC - intron_variant MALY-DE 6 170102035 170102035 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 6 170102035 170102035 single base substitution G A upstream_gene_variant MALY-DE 6 170102047 170102047 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 6 170102047 170102047 single base substitution G A upstream_gene_variant MELA-AU 6 169852816 169852816 single base substitution G A downstream_gene_variant MELA-AU 6 169852882 169852882 single base substitution C T downstream_gene_variant MELA-AU 6 169853152 169853152 single base substitution C T downstream_gene_variant MELA-AU 6 169853357 169853357 single base substitution C T downstream_gene_variant MELA-AU 6 169853400 169853400 single base substitution C T downstream_gene_variant MELA-AU 6 169853910 169853910 single base substitution C T downstream_gene_variant MELA-AU 6 169854621 169854621 single base substitution C T downstream_gene_variant MELA-AU 6 169855133 169855133 single base substitution G A downstream_gene_variant MELA-AU 6 169856487 169856487 single base substitution G A downstream_gene_variant MELA-AU 6 169856569 169856569 single base substitution C T downstream_gene_variant MELA-AU 6 169856666 169856666 single base substitution G A downstream_gene_variant MELA-AU 6 169857471 169857471 single base substitution G A 3_prime_UTR_variant MELA-AU 6 169857471 169857471 single base substitution G A exon_variant MELA-AU 6 169857597 169857597 single base substitution G A 3_prime_UTR_variant MELA-AU 6 169857597 169857597 single base substitution G A exon_variant MELA-AU 6 169857758 169857758 single base substitution T G intron_variant MELA-AU 6 169858026 169858026 single base substitution C A intron_variant MELA-AU 6 169858040 169858040 single base substitution G A intron_variant MELA-AU 6 169858238 169858238 single base substitution A G intron_variant MELA-AU 6 169858290 169858290 single base substitution C G intron_variant MELA-AU 6 169858974 169858974 single base substitution G A intron_variant MELA-AU 6 169859613 169859613 single base substitution G A intron_variant MELA-AU 6 169860392 169860392 single base substitution G A intron_variant MELA-AU 6 169860459 169860459 single base substitution C T intron_variant MELA-AU 6 169860669 169860669 single base substitution G A intron_variant MELA-AU 6 169861130 169861130 single base substitution G A intron_variant MELA-AU 6 169861563 169861563 single base substitution G A intron_variant MELA-AU 6 169861881 169861881 single base substitution G A intron_variant MELA-AU 6 169862461 169862461 single base substitution G A intron_variant MELA-AU 6 169862537 169862537 single base substitution G A intron_variant MELA-AU 6 169862541 169862541 single base substitution G A intron_variant MELA-AU 6 169862603 169862603 single base substitution G A intron_variant MELA-AU 6 169862660 169862660 single base substitution G A intron_variant MELA-AU 6 169863281 169863281 single base substitution G A intron_variant MELA-AU 6 169863302 169863302 single base substitution G A intron_variant MELA-AU 6 169863336 169863336 single base substitution G A intron_variant MELA-AU 6 169863511 169863511 single base substitution A T intron_variant MELA-AU 6 169863865 169863865 single base substitution G A intron_variant MELA-AU 6 169863954 169863954 single base substitution G A intron_variant MELA-AU 6 169864282 169864282 single base substitution A G intron_variant MELA-AU 6 169864789 169864789 single base substitution G A intron_variant MELA-AU 6 169865036 169865036 single base substitution G A intron_variant MELA-AU 6 169865254 169865254 single base substitution G A intron_variant MELA-AU 6 169865348 169865348 single base substitution C T intron_variant MELA-AU 6 169865358 169865358 single base substitution A G intron_variant MELA-AU 6 169865578 169865578 single base substitution G A intron_variant MELA-AU 6 169865974 169865974 single base substitution G A intron_variant MELA-AU 6 169866018 169866018 single base substitution G A intron_variant MELA-AU 6 169866109 169866109 single base substitution G A intron_variant MELA-AU 6 169866169 169866169 single base substitution T A intron_variant MELA-AU 6 169866231 169866231 single base substitution C T intron_variant MELA-AU 6 169866552 169866552 single base substitution G A intron_variant MELA-AU 6 169867102 169867102 single base substitution A T intron_variant MELA-AU 6 169867209 169867209 single base substitution C T intron_variant MELA-AU 6 169867305 169867305 single base substitution G A intron_variant MELA-AU 6 169867306 169867306 single base substitution G C intron_variant MELA-AU 6 169868203 169868203 single base substitution G A intron_variant MELA-AU 6 169868363 169868363 single base substitution C T intron_variant MELA-AU 6 169868541 169868541 single base substitution G A intron_variant MELA-AU 6 169868704 169868704 single base substitution C T intron_variant MELA-AU 6 169868727 169868727 single base substitution A C intron_variant MELA-AU 6 169869037 169869037 single base substitution G A intron_variant MELA-AU 6 169869125 169869125 single base substitution C T intron_variant MELA-AU 6 169870572 169870572 single base substitution A G intron_variant MELA-AU 6 169870674 169870674 single base substitution G A intron_variant MELA-AU 6 169870766 169870766 single base substitution C T intron_variant MELA-AU 6 169870886 169870886 single base substitution C T intron_variant MELA-AU 6 169871027 169871027 single base substitution A G intron_variant MELA-AU 6 169871389 169871389 single base substitution T C intron_variant MELA-AU 6 169871433 169871434 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU 6 169871993 169871993 single base substitution G A intron_variant MELA-AU 6 169872023 169872023 single base substitution G A intron_variant MELA-AU 6 169872680 169872680 single base substitution A G intron_variant MELA-AU 6 169873504 169873504 single base substitution G A intron_variant MELA-AU 6 169873787 169873787 single base substitution G A intron_variant MELA-AU 6 169874291 169874291 single base substitution A C intron_variant MELA-AU 6 169874304 169874304 single base substitution T C intron_variant MELA-AU 6 169874392 169874392 single base substitution G A intron_variant MELA-AU 6 169874409 169874409 single base substitution G A intron_variant MELA-AU 6 169874537 169874537 single base substitution G A intron_variant MELA-AU 6 169874745 169874745 single base substitution G A intron_variant MELA-AU 6 169874879 169874879 single base substitution G A intron_variant MELA-AU 6 169875097 169875097 single base substitution G A intron_variant MELA-AU 6 169875188 169875188 single base substitution C T intron_variant MELA-AU 6 169875412 169875412 single base substitution G A intron_variant MELA-AU 6 169875940 169875940 single base substitution G A intron_variant MELA-AU 6 169876371 169876371 single base substitution C T intron_variant MELA-AU 6 169876453 169876453 single base substitution C T intron_variant MELA-AU 6 169876601 169876601 single base substitution C T intron_variant MELA-AU 6 169876822 169876822 single base substitution G A intron_variant MELA-AU 6 169877175 169877175 single base substitution C T intron_variant MELA-AU 6 169878017 169878017 single base substitution A C intron_variant MELA-AU 6 169878494 169878494 single base substitution G A intron_variant MELA-AU 6 169878586 169878586 single base substitution C T intron_variant MELA-AU 6 169879357 169879357 single base substitution G A intron_variant MELA-AU 6 169879679 169879679 single base substitution G A intron_variant MELA-AU 6 169880069 169880069 single base substitution G A intron_variant MELA-AU 6 169880189 169880189 single base substitution C T intron_variant MELA-AU 6 169880459 169880459 single base substitution G A intron_variant MELA-AU 6 169880509 169880509 single base substitution G A intron_variant MELA-AU 6 169880775 169880775 single base substitution C A intron_variant MELA-AU 6 169880839 169880840 multiple base substitution (>=2bp and <=200bp) AA CT intron_variant MELA-AU 6 169880858 169880858 single base substitution G T intron_variant MELA-AU 6 169880860 169880860 single base substitution A T intron_variant MELA-AU 6 169881396 169881396 single base substitution C T intron_variant MELA-AU 6 169881806 169881806 single base substitution G A intron_variant MELA-AU 6 169882348 169882348 single base substitution G A intron_variant MELA-AU 6 169882392 169882392 single base substitution C T intron_variant MELA-AU 6 169883469 169883469 single base substitution G A intron_variant MELA-AU 6 169883478 169883478 single base substitution G A intron_variant MELA-AU 6 169883842 169883842 single base substitution C T intron_variant MELA-AU 6 169884027 169884027 single base substitution T A intron_variant MELA-AU 6 169884319 169884319 single base substitution G A intron_variant MELA-AU 6 169884375 169884375 single base substitution C T intron_variant MELA-AU 6 169884652 169884652 single base substitution G A intron_variant MELA-AU 6 169885122 169885122 single base substitution G A intron_variant MELA-AU 6 169885249 169885249 single base substitution G A intron_variant MELA-AU 6 169885787 169885787 single base substitution T C intron_variant MELA-AU 6 169886162 169886162 single base substitution G A intron_variant MELA-AU 6 169886372 169886372 single base substitution G A intron_variant MELA-AU 6 169886404 169886404 single base substitution C T intron_variant MELA-AU 6 169886985 169886985 single base substitution G A intron_variant MELA-AU 6 169887203 169887203 single base substitution G A intron_variant MELA-AU 6 169887521 169887521 single base substitution G A intron_variant MELA-AU 6 169887873 169887873 single base substitution C T intron_variant MELA-AU 6 169888449 169888449 single base substitution G A intron_variant MELA-AU 6 169889562 169889562 single base substitution G A intron_variant MELA-AU 6 169889586 169889586 single base substitution C G intron_variant MELA-AU 6 169889628 169889628 single base substitution G T intron_variant MELA-AU 6 169889836 169889836 single base substitution C T intron_variant MELA-AU 6 169890116 169890116 single base substitution G A intron_variant MELA-AU 6 169890533 169890533 single base substitution G A intron_variant MELA-AU 6 169890610 169890610 single base substitution C T intron_variant MELA-AU 6 169890612 169890612 single base substitution G A intron_variant MELA-AU 6 169890806 169890806 single base substitution C T intron_variant MELA-AU 6 169890985 169890985 single base substitution C T intron_variant MELA-AU 6 169891161 169891161 single base substitution G A intron_variant MELA-AU 6 169891865 169891865 single base substitution G A intron_variant MELA-AU 6 169891972 169891972 single base substitution G A intron_variant MELA-AU 6 169892020 169892020 single base substitution G A intron_variant MELA-AU 6 169892130 169892130 single base substitution G A intron_variant MELA-AU 6 169892199 169892199 single base substitution A G intron_variant MELA-AU 6 169892530 169892530 single base substitution G A intron_variant MELA-AU 6 169892756 169892756 single base substitution G A intron_variant MELA-AU 6 169892802 169892802 single base substitution C T intron_variant MELA-AU 6 169893409 169893409 single base substitution G A intron_variant MELA-AU 6 169893479 169893479 single base substitution G A intron_variant MELA-AU 6 169893986 169893986 single base substitution C T intron_variant MELA-AU 6 169894447 169894447 single base substitution C T intron_variant MELA-AU 6 169896018 169896018 single base substitution G A intron_variant MELA-AU 6 169896108 169896108 single base substitution C T intron_variant MELA-AU 6 169897595 169897595 single base substitution C T intron_variant MELA-AU 6 169898179 169898179 single base substitution G A intron_variant MELA-AU 6 169898669 169898669 single base substitution G A intron_variant MELA-AU 6 169898957 169898957 single base substitution G A intron_variant MELA-AU 6 169899198 169899198 single base substitution C A intron_variant MELA-AU 6 169899591 169899591 single base substitution G A intron_variant MELA-AU 6 169901393 169901393 single base substitution C T intron_variant MELA-AU 6 169901445 169901445 single base substitution G A intron_variant MELA-AU 6 169901503 169901503 single base substitution C T intron_variant MELA-AU 6 169902145 169902145 single base substitution G A intron_variant MELA-AU 6 169902591 169902591 single base substitution G A intron_variant MELA-AU 6 169902697 169902697 single base substitution G A intron_variant MELA-AU 6 169902710 169902710 single base substitution G A intron_variant MELA-AU 6 169902760 169902760 single base substitution G A intron_variant MELA-AU 6 169902931 169902931 single base substitution C T intron_variant MELA-AU 6 169903077 169903077 single base substitution G A intron_variant MELA-AU 6 169903149 169903149 single base substitution G A intron_variant MELA-AU 6 169903372 169903372 single base substitution G A intron_variant MELA-AU 6 169903594 169903594 single base substitution G A intron_variant MELA-AU 6 169904005 169904005 single base substitution C T intron_variant MELA-AU 6 169904449 169904449 single base substitution G A intron_variant MELA-AU 6 169904635 169904635 single base substitution C T intron_variant MELA-AU 6 169904823 169904823 single base substitution G A intron_variant MELA-AU 6 169904956 169904956 single base substitution G T intron_variant MELA-AU 6 169905476 169905476 single base substitution A G intron_variant MELA-AU 6 169905686 169905686 single base substitution C T intron_variant MELA-AU 6 169906541 169906541 single base substitution G A intron_variant MELA-AU 6 169906547 169906547 single base substitution T C intron_variant MELA-AU 6 169907023 169907023 single base substitution G A intron_variant MELA-AU 6 169907222 169907222 single base substitution G A intron_variant MELA-AU 6 169907557 169907557 single base substitution G A intron_variant MELA-AU 6 169907747 169907747 single base substitution G A intron_variant MELA-AU 6 169907920 169907920 single base substitution G A intron_variant MELA-AU 6 169908418 169908418 single base substitution G A intron_variant MELA-AU 6 169908474 169908474 single base substitution G A intron_variant MELA-AU 6 169908576 169908576 single base substitution C T intron_variant MELA-AU 6 169908692 169908692 single base substitution G A intron_variant MELA-AU 6 169908726 169908726 single base substitution C T intron_variant MELA-AU 6 169908989 169908989 single base substitution G A intron_variant MELA-AU 6 169910688 169910688 single base substitution G A intron_variant MELA-AU 6 169910700 169910700 single base substitution G A intron_variant MELA-AU 6 169910737 169910737 single base substitution G A intron_variant MELA-AU 6 169910742 169910742 single base substitution G T intron_variant MELA-AU 6 169911039 169911039 single base substitution C T intron_variant MELA-AU 6 169911239 169911239 single base substitution A C intron_variant MELA-AU 6 169911754 169911754 single base substitution C T intron_variant MELA-AU 6 169911760 169911760 single base substitution G A intron_variant MELA-AU 6 169911950 169911950 single base substitution A G intron_variant MELA-AU 6 169912146 169912146 single base substitution A T intron_variant MELA-AU 6 169912249 169912249 single base substitution C T intron_variant MELA-AU 6 169913254 169913254 single base substitution G A intron_variant MELA-AU 6 169913287 169913287 single base substitution C T intron_variant MELA-AU 6 169913744 169913744 single base substitution A G intron_variant MELA-AU 6 169913955 169913955 single base substitution C T intron_variant MELA-AU 6 169914643 169914643 single base substitution A T intron_variant MELA-AU 6 169914926 169914926 single base substitution T A intron_variant MELA-AU 6 169914946 169914946 single base substitution G A intron_variant MELA-AU 6 169915130 169915130 single base substitution A G intron_variant MELA-AU 6 169915354 169915354 single base substitution C T intron_variant MELA-AU 6 169915422 169915422 single base substitution G A intron_variant MELA-AU 6 169915501 169915501 single base substitution A T intron_variant MELA-AU 6 169915573 169915573 single base substitution G A intron_variant MELA-AU 6 169916274 169916274 single base substitution G A intron_variant MELA-AU 6 169916320 169916320 single base substitution A G intron_variant MELA-AU 6 169916328 169916329 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 169917129 169917129 single base substitution G A intron_variant MELA-AU 6 169917740 169917740 single base substitution G A intron_variant MELA-AU 6 169918383 169918383 single base substitution C T intron_variant MELA-AU 6 169918428 169918428 single base substitution C T intron_variant MELA-AU 6 169918650 169918650 single base substitution T C intron_variant MELA-AU 6 169918897 169918897 single base substitution A T intron_variant MELA-AU 6 169919092 169919092 single base substitution G A intron_variant MELA-AU 6 169919359 169919360 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 6 169919757 169919757 single base substitution T C intron_variant MELA-AU 6 169920175 169920176 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 169920598 169920598 single base substitution G A intron_variant MELA-AU 6 169920723 169920723 single base substitution G A intron_variant MELA-AU 6 169920751 169920751 single base substitution G A intron_variant MELA-AU 6 169920901 169920901 single base substitution C T intron_variant MELA-AU 6 169921028 169921028 single base substitution G A intron_variant MELA-AU 6 169921268 169921268 single base substitution G A intron_variant MELA-AU 6 169921369 169921369 single base substitution C T intron_variant MELA-AU 6 169921620 169921620 single base substitution G A intron_variant MELA-AU 6 169921834 169921834 single base substitution A C intron_variant MELA-AU 6 169922181 169922181 single base substitution G A intron_variant MELA-AU 6 169922917 169922917 single base substitution G A intron_variant MELA-AU 6 169923293 169923293 single base substitution G A intron_variant MELA-AU 6 169923302 169923302 single base substitution C T intron_variant MELA-AU 6 169923503 169923503 single base substitution G A intron_variant MELA-AU 6 169923509 169923509 single base substitution G A intron_variant MELA-AU 6 169923586 169923586 single base substitution G A intron_variant MELA-AU 6 169924135 169924135 single base substitution C A intron_variant MELA-AU 6 169924307 169924307 single base substitution G A intron_variant MELA-AU 6 169924320 169924320 single base substitution C T intron_variant MELA-AU 6 169924361 169924361 single base substitution G A intron_variant MELA-AU 6 169924586 169924586 single base substitution G A intron_variant MELA-AU 6 169925077 169925077 single base substitution G A intron_variant MELA-AU 6 169925260 169925260 single base substitution G A intron_variant MELA-AU 6 169925336 169925336 single base substitution A G intron_variant MELA-AU 6 169926712 169926712 single base substitution C T intron_variant MELA-AU 6 169926797 169926797 single base substitution G A intron_variant MELA-AU 6 169926803 169926803 single base substitution G A intron_variant MELA-AU 6 169926823 169926823 single base substitution G A intron_variant MELA-AU 6 169927084 169927084 single base substitution G A intron_variant MELA-AU 6 169928123 169928123 single base substitution G A intron_variant MELA-AU 6 169928182 169928182 single base substitution G A intron_variant MELA-AU 6 169928268 169928268 single base substitution C T intron_variant MELA-AU 6 169928566 169928566 single base substitution C T intron_variant MELA-AU 6 169928649 169928649 single base substitution G A intron_variant MELA-AU 6 169928671 169928671 single base substitution G A intron_variant MELA-AU 6 169929411 169929411 single base substitution G A intron_variant MELA-AU 6 169929413 169929413 single base substitution G A intron_variant MELA-AU 6 169929508 169929508 single base substitution T C intron_variant MELA-AU 6 169929519 169929519 single base substitution A T intron_variant MELA-AU 6 169930268 169930268 single base substitution G A intron_variant MELA-AU 6 169931331 169931331 single base substitution G A intron_variant MELA-AU 6 169932110 169932110 deletion of <=200bp C - intron_variant MELA-AU 6 169932737 169932737 single base substitution T A intron_variant MELA-AU 6 169932742 169932742 single base substitution G A intron_variant MELA-AU 6 169932909 169932909 single base substitution G A intron_variant MELA-AU 6 169933206 169933206 single base substitution A G intron_variant MELA-AU 6 169933248 169933248 single base substitution A G intron_variant MELA-AU 6 169933250 169933250 single base substitution G A intron_variant MELA-AU 6 169933389 169933389 single base substitution G A intron_variant MELA-AU 6 169933551 169933551 single base substitution C T intron_variant MELA-AU 6 169933854 169933854 single base substitution G A intron_variant MELA-AU 6 169933859 169933859 single base substitution G A intron_variant MELA-AU 6 169934078 169934078 single base substitution G A intron_variant MELA-AU 6 169934092 169934092 single base substitution G A intron_variant MELA-AU 6 169934536 169934536 single base substitution G A intron_variant MELA-AU 6 169934607 169934607 single base substitution C T intron_variant MELA-AU 6 169935115 169935115 single base substitution G A intron_variant MELA-AU 6 169935355 169935355 single base substitution G A intron_variant MELA-AU 6 169935690 169935690 single base substitution C T intron_variant MELA-AU 6 169935859 169935859 single base substitution A G intron_variant MELA-AU 6 169936095 169936095 deletion of <=200bp A - intron_variant MELA-AU 6 169936169 169936169 single base substitution A C intron_variant MELA-AU 6 169936202 169936202 single base substitution A T intron_variant MELA-AU 6 169936575 169936575 single base substitution C T intron_variant MELA-AU 6 169936854 169936854 single base substitution G A intron_variant MELA-AU 6 169937103 169937103 single base substitution C T intron_variant MELA-AU 6 169937168 169937168 single base substitution G A intron_variant MELA-AU 6 169937363 169937363 single base substitution G A intron_variant MELA-AU 6 169937544 169937544 single base substitution C G intron_variant MELA-AU 6 169937655 169937655 single base substitution G A intron_variant MELA-AU 6 169937925 169937926 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 169938083 169938083 single base substitution G A intron_variant MELA-AU 6 169938147 169938147 single base substitution G A intron_variant MELA-AU 6 169938404 169938404 single base substitution G A intron_variant MELA-AU 6 169938411 169938411 single base substitution C T intron_variant MELA-AU 6 169938450 169938450 single base substitution G A intron_variant MELA-AU 6 169938833 169938833 single base substitution A C intron_variant MELA-AU 6 169939105 169939105 single base substitution C A intron_variant MELA-AU 6 169939253 169939253 single base substitution G A intron_variant MELA-AU 6 169939734 169939734 single base substitution C T intron_variant MELA-AU 6 169940006 169940006 single base substitution G A intron_variant MELA-AU 6 169940550 169940550 single base substitution G A intron_variant MELA-AU 6 169940560 169940560 single base substitution C T intron_variant MELA-AU 6 169940644 169940644 single base substitution G A intron_variant MELA-AU 6 169940823 169940823 single base substitution G A intron_variant MELA-AU 6 169940973 169940973 single base substitution G A intron_variant MELA-AU 6 169941282 169941282 single base substitution G A intron_variant MELA-AU 6 169941844 169941844 single base substitution G A intron_variant MELA-AU 6 169941944 169941944 single base substitution G A intron_variant MELA-AU 6 169941971 169941971 single base substitution C T intron_variant MELA-AU 6 169942528 169942528 single base substitution G A intron_variant MELA-AU 6 169942648 169942648 single base substitution G A intron_variant MELA-AU 6 169942988 169942988 single base substitution C T intron_variant MELA-AU 6 169944428 169944428 single base substitution A G intron_variant MELA-AU 6 169945126 169945126 single base substitution G A intron_variant MELA-AU 6 169945401 169945401 single base substitution G A intron_variant MELA-AU 6 169945428 169945428 single base substitution G A intron_variant MELA-AU 6 169945467 169945467 single base substitution G A intron_variant MELA-AU 6 169945552 169945552 single base substitution G A intron_variant MELA-AU 6 169945703 169945703 single base substitution G A intron_variant MELA-AU 6 169945776 169945776 single base substitution A C intron_variant MELA-AU 6 169945808 169945808 single base substitution C T intron_variant MELA-AU 6 169945818 169945818 single base substitution G A intron_variant MELA-AU 6 169946113 169946113 single base substitution A G intron_variant MELA-AU 6 169946241 169946241 single base substitution G A intron_variant MELA-AU 6 169946805 169946805 single base substitution G A intron_variant MELA-AU 6 169947028 169947028 single base substitution G A intron_variant MELA-AU 6 169947054 169947054 single base substitution G A intron_variant MELA-AU 6 169947310 169947310 single base substitution G A intron_variant MELA-AU 6 169948011 169948011 single base substitution C T intron_variant MELA-AU 6 169948019 169948019 single base substitution A T intron_variant MELA-AU 6 169948268 169948268 single base substitution G A intron_variant MELA-AU 6 169948310 169948310 single base substitution C T intron_variant MELA-AU 6 169949091 169949091 single base substitution G A intron_variant MELA-AU 6 169949224 169949224 single base substitution G A intron_variant MELA-AU 6 169951188 169951188 single base substitution G A intron_variant MELA-AU 6 169951322 169951322 single base substitution G A intron_variant MELA-AU 6 169951716 169951716 single base substitution C A intron_variant MELA-AU 6 169951795 169951795 single base substitution T C intron_variant MELA-AU 6 169952535 169952535 single base substitution G A intron_variant MELA-AU 6 169953287 169953287 single base substitution G A intron_variant MELA-AU 6 169953539 169953539 single base substitution G A downstream_gene_variant MELA-AU 6 169953539 169953539 single base substitution G A intron_variant MELA-AU 6 169953688 169953688 single base substitution C T downstream_gene_variant MELA-AU 6 169953688 169953688 single base substitution C T intron_variant MELA-AU 6 169953727 169953727 single base substitution G A downstream_gene_variant MELA-AU 6 169953727 169953727 single base substitution G A intron_variant MELA-AU 6 169953728 169953728 single base substitution G A downstream_gene_variant MELA-AU 6 169953728 169953728 single base substitution G A intron_variant MELA-AU 6 169953823 169953823 single base substitution G C downstream_gene_variant MELA-AU 6 169953823 169953823 single base substitution G C intron_variant MELA-AU 6 169954408 169954408 single base substitution G A downstream_gene_variant MELA-AU 6 169954408 169954408 single base substitution G A intron_variant MELA-AU 6 169954409 169954409 single base substitution G A downstream_gene_variant MELA-AU 6 169954409 169954409 single base substitution G A intron_variant MELA-AU 6 169954848 169954848 single base substitution G A downstream_gene_variant MELA-AU 6 169954848 169954848 single base substitution G A intron_variant MELA-AU 6 169955032 169955032 single base substitution G A downstream_gene_variant MELA-AU 6 169955032 169955032 single base substitution G A intron_variant MELA-AU 6 169955154 169955154 single base substitution G A downstream_gene_variant MELA-AU 6 169955154 169955154 single base substitution G A intron_variant MELA-AU 6 169955502 169955502 single base substitution G A downstream_gene_variant MELA-AU 6 169955502 169955502 single base substitution G A intron_variant MELA-AU 6 169955583 169955583 single base substitution G A downstream_gene_variant MELA-AU 6 169955583 169955583 single base substitution G A intron_variant MELA-AU 6 169956622 169956622 single base substitution G A downstream_gene_variant MELA-AU 6 169956622 169956622 single base substitution G A intron_variant MELA-AU 6 169958009 169958009 single base substitution A T downstream_gene_variant MELA-AU 6 169958009 169958009 single base substitution A T intron_variant MELA-AU 6 169958181 169958181 single base substitution G A downstream_gene_variant MELA-AU 6 169958181 169958181 single base substitution G A intron_variant MELA-AU 6 169958400 169958400 single base substitution T C downstream_gene_variant MELA-AU 6 169958400 169958400 single base substitution T C intron_variant MELA-AU 6 169959257 169959263 deletion of <=200bp TCCCTGC - exon_variant MELA-AU 6 169959257 169959263 deletion of <=200bp TCCCTGC - intron_variant MELA-AU 6 169959347 169959347 single base substitution C G exon_variant MELA-AU 6 169959347 169959347 single base substitution C G intron_variant MELA-AU 6 169960033 169960033 single base substitution G A intron_variant MELA-AU 6 169960322 169960322 single base substitution G A intron_variant MELA-AU 6 169960605 169960605 single base substitution G A intron_variant MELA-AU 6 169960638 169960638 single base substitution G C intron_variant MELA-AU 6 169961458 169961458 single base substitution T C intron_variant MELA-AU 6 169961459 169961459 single base substitution G A intron_variant MELA-AU 6 169961538 169961538 single base substitution G A intron_variant MELA-AU 6 169962118 169962118 single base substitution C T intron_variant MELA-AU 6 169962468 169962468 single base substitution A C intron_variant MELA-AU 6 169962776 169962776 single base substitution G A intron_variant MELA-AU 6 169963262 169963262 single base substitution C T intron_variant MELA-AU 6 169963389 169963389 single base substitution G A intron_variant MELA-AU 6 169963809 169963809 single base substitution A T intron_variant MELA-AU 6 169963814 169963814 single base substitution A G intron_variant MELA-AU 6 169963850 169963850 single base substitution G A intron_variant MELA-AU 6 169964029 169964029 single base substitution G A intron_variant MELA-AU 6 169964332 169964332 single base substitution G A intron_variant MELA-AU 6 169964812 169964812 single base substitution G A intron_variant MELA-AU 6 169965343 169965343 single base substitution C T intron_variant MELA-AU 6 169965467 169965467 single base substitution G A intron_variant MELA-AU 6 169965582 169965582 single base substitution G A intron_variant MELA-AU 6 169966039 169966039 single base substitution G A intron_variant MELA-AU 6 169966089 169966089 single base substitution G A intron_variant MELA-AU 6 169966647 169966647 single base substitution G A intron_variant MELA-AU 6 169966914 169966914 single base substitution G A intron_variant MELA-AU 6 169967115 169967115 single base substitution G A intron_variant MELA-AU 6 169967144 169967144 single base substitution G A intron_variant MELA-AU 6 169967276 169967276 single base substitution G A intron_variant MELA-AU 6 169967425 169967425 single base substitution G A intron_variant MELA-AU 6 169967581 169967581 single base substitution G A intron_variant MELA-AU 6 169967674 169967674 single base substitution G A intron_variant MELA-AU 6 169968025 169968025 single base substitution G A intron_variant MELA-AU 6 169968194 169968194 single base substitution G A intron_variant MELA-AU 6 169968315 169968315 single base substitution G A intron_variant MELA-AU 6 169968470 169968470 single base substitution G A intron_variant MELA-AU 6 169968683 169968683 single base substitution G A intron_variant MELA-AU 6 169968756 169968756 single base substitution G A intron_variant MELA-AU 6 169968867 169968867 single base substitution C T intron_variant MELA-AU 6 169969094 169969094 single base substitution G A intron_variant MELA-AU 6 169969109 169969110 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 169969459 169969459 single base substitution T C intron_variant MELA-AU 6 169969667 169969667 single base substitution G A intron_variant MELA-AU 6 169970274 169970274 single base substitution G A intron_variant MELA-AU 6 169970311 169970311 single base substitution G A intron_variant MELA-AU 6 169970389 169970389 single base substitution G A intron_variant MELA-AU 6 169970852 169970852 single base substitution G A intron_variant MELA-AU 6 169971098 169971098 single base substitution C T intron_variant MELA-AU 6 169971398 169971398 single base substitution G A intron_variant MELA-AU 6 169972141 169972141 single base substitution C T intron_variant MELA-AU 6 169972260 169972260 single base substitution T A intron_variant MELA-AU 6 169972442 169972442 single base substitution C T intron_variant MELA-AU 6 169972623 169972623 single base substitution G A intron_variant MELA-AU 6 169972623 169972623 single base substitution G A missense_variant S846F 2537C>T MELA-AU 6 169973037 169973037 single base substitution G A intron_variant MELA-AU 6 169973432 169973432 single base substitution G A intron_variant MELA-AU 6 169973528 169973528 single base substitution G A intron_variant MELA-AU 6 169973592 169973592 single base substitution G A intron_variant MELA-AU 6 169973651 169973651 single base substitution G A intron_variant MELA-AU 6 169974133 169974133 single base substitution C T intron_variant MELA-AU 6 169974362 169974362 single base substitution G A intron_variant MELA-AU 6 169974498 169974498 single base substitution G A intron_variant MELA-AU 6 169974675 169974675 single base substitution G A intron_variant MELA-AU 6 169974734 169974734 single base substitution C A intron_variant MELA-AU 6 169974983 169974983 single base substitution G A intron_variant MELA-AU 6 169975700 169975700 single base substitution T G intron_variant MELA-AU 6 169976062 169976062 single base substitution G A intron_variant MELA-AU 6 169976262 169976262 single base substitution A C intron_variant MELA-AU 6 169976810 169976810 single base substitution C T intron_variant MELA-AU 6 169976916 169976916 single base substitution T A intron_variant MELA-AU 6 169976994 169976994 single base substitution G A intron_variant MELA-AU 6 169977573 169977573 single base substitution A G intron_variant MELA-AU 6 169977582 169977582 single base substitution G A intron_variant MELA-AU 6 169977587 169977587 single base substitution G A intron_variant MELA-AU 6 169977698 169977698 single base substitution A G intron_variant MELA-AU 6 169978588 169978588 single base substitution G A intron_variant MELA-AU 6 169978878 169978878 single base substitution C T intron_variant MELA-AU 6 169979600 169979600 single base substitution G A intron_variant MELA-AU 6 169979799 169979799 single base substitution G A intron_variant MELA-AU 6 169979923 169979923 single base substitution G A intron_variant MELA-AU 6 169980239 169980239 single base substitution C T intron_variant MELA-AU 6 169980445 169980445 single base substitution T C intron_variant MELA-AU 6 169980900 169980900 single base substitution C T intron_variant MELA-AU 6 169980997 169980997 single base substitution G A intron_variant MELA-AU 6 169981042 169981042 single base substitution T C intron_variant MELA-AU 6 169981258 169981258 single base substitution T A intron_variant MELA-AU 6 169981599 169981599 single base substitution C T intron_variant MELA-AU 6 169981629 169981629 single base substitution G A intron_variant MELA-AU 6 169981920 169981920 single base substitution G A intron_variant MELA-AU 6 169981930 169981930 single base substitution G A intron_variant MELA-AU 6 169982173 169982173 single base substitution G A intron_variant MELA-AU 6 169983222 169983222 single base substitution C T intron_variant MELA-AU 6 169983236 169983236 single base substitution T C intron_variant MELA-AU 6 169983348 169983348 single base substitution G A intron_variant MELA-AU 6 169983648 169983648 single base substitution G A intron_variant MELA-AU 6 169983909 169983909 single base substitution G A intron_variant MELA-AU 6 169983931 169983931 single base substitution C T intron_variant MELA-AU 6 169984517 169984517 single base substitution T A intron_variant MELA-AU 6 169985186 169985186 single base substitution G A intron_variant MELA-AU 6 169985221 169985221 single base substitution G A intron_variant MELA-AU 6 169985587 169985587 single base substitution C T intron_variant MELA-AU 6 169985784 169985784 single base substitution A T intron_variant MELA-AU 6 169985935 169985936 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 169986301 169986301 single base substitution C G intron_variant MELA-AU 6 169986304 169986304 single base substitution G A intron_variant MELA-AU 6 169986462 169986462 single base substitution G A intron_variant MELA-AU 6 169986764 169986764 single base substitution G A intron_variant MELA-AU 6 169986933 169986933 single base substitution G A intron_variant MELA-AU 6 169987418 169987418 single base substitution G A intron_variant MELA-AU 6 169987535 169987535 single base substitution G A intron_variant MELA-AU 6 169987864 169987864 single base substitution G A intron_variant MELA-AU 6 169987865 169987865 single base substitution G A intron_variant MELA-AU 6 169987931 169987931 single base substitution C T intron_variant MELA-AU 6 169988142 169988142 single base substitution G A intron_variant MELA-AU 6 169988249 169988249 single base substitution G A intron_variant MELA-AU 6 169988675 169988675 single base substitution G A intron_variant MELA-AU 6 169988855 169988855 single base substitution A G intron_variant MELA-AU 6 169989947 169989947 single base substitution G A intron_variant MELA-AU 6 169990556 169990556 single base substitution A C intron_variant MELA-AU 6 169990897 169990898 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 6 169991299 169991299 single base substitution C T intron_variant MELA-AU 6 169991718 169991718 single base substitution G A intron_variant MELA-AU 6 169991832 169991832 single base substitution G A intron_variant MELA-AU 6 169993322 169993322 single base substitution G A intron_variant MELA-AU 6 169993368 169993368 single base substitution G A intron_variant MELA-AU 6 169993766 169993766 single base substitution A G intron_variant MELA-AU 6 169994094 169994094 single base substitution C T intron_variant MELA-AU 6 169994325 169994325 single base substitution G A intron_variant MELA-AU 6 169994755 169994755 single base substitution T G intron_variant MELA-AU 6 169995216 169995216 single base substitution C T intron_variant MELA-AU 6 169996897 169996897 single base substitution A G intron_variant MELA-AU 6 169997633 169997633 single base substitution G A intron_variant MELA-AU 6 169997820 169997820 single base substitution G T intron_variant MELA-AU 6 169998424 169998424 single base substitution G A intron_variant MELA-AU 6 169998755 169998755 single base substitution G A intron_variant MELA-AU 6 169998920 169998920 single base substitution G A intron_variant MELA-AU 6 169999039 169999039 single base substitution G A intron_variant MELA-AU 6 170000295 170000295 single base substitution G A intron_variant MELA-AU 6 170000364 170000364 single base substitution G A intron_variant MELA-AU 6 170000458 170000458 single base substitution G A intron_variant MELA-AU 6 170000645 170000645 single base substitution G A intron_variant MELA-AU 6 170000659 170000659 single base substitution T A intron_variant MELA-AU 6 170000668 170000668 single base substitution A T intron_variant MELA-AU 6 170000709 170000709 single base substitution C T intron_variant MELA-AU 6 170000759 170000759 single base substitution G A intron_variant MELA-AU 6 170000892 170000892 single base substitution A C intron_variant MELA-AU 6 170001134 170001134 single base substitution G A intron_variant MELA-AU 6 170001799 170001799 single base substitution G A intron_variant MELA-AU 6 170002176 170002176 single base substitution A G intron_variant MELA-AU 6 170002269 170002269 single base substitution C A intron_variant MELA-AU 6 170002551 170002551 single base substitution G A intron_variant MELA-AU 6 170004125 170004125 single base substitution C T intron_variant MELA-AU 6 170004226 170004226 single base substitution A C intron_variant MELA-AU 6 170004388 170004388 single base substitution A G intron_variant MELA-AU 6 170004563 170004563 single base substitution C T intron_variant MELA-AU 6 170004868 170004868 single base substitution G A intron_variant MELA-AU 6 170005034 170005034 single base substitution G A intron_variant MELA-AU 6 170005100 170005100 single base substitution G A intron_variant MELA-AU 6 170005177 170005177 single base substitution C T intron_variant MELA-AU 6 170005405 170005405 single base substitution C T intron_variant MELA-AU 6 170005573 170005573 single base substitution G A intron_variant MELA-AU 6 170005971 170005971 single base substitution A G intron_variant MELA-AU 6 170006160 170006160 single base substitution A G intron_variant MELA-AU 6 170006262 170006262 single base substitution G A intron_variant MELA-AU 6 170006312 170006312 single base substitution A T intron_variant MELA-AU 6 170006744 170006744 single base substitution C T intron_variant MELA-AU 6 170007236 170007236 single base substitution G A intron_variant MELA-AU 6 170007479 170007479 single base substitution T G intron_variant MELA-AU 6 170007554 170007554 single base substitution G A intron_variant MELA-AU 6 170007689 170007689 single base substitution G A intron_variant MELA-AU 6 170007741 170007741 single base substitution G T intron_variant MELA-AU 6 170007886 170007886 single base substitution A T intron_variant MELA-AU 6 170008357 170008357 single base substitution G A intron_variant MELA-AU 6 170009041 170009041 single base substitution G A intron_variant MELA-AU 6 170009421 170009421 single base substitution C T intron_variant MELA-AU 6 170009629 170009629 single base substitution C T intron_variant MELA-AU 6 170009675 170009675 single base substitution C T intron_variant MELA-AU 6 170009754 170009754 single base substitution G A intron_variant MELA-AU 6 170009881 170009881 single base substitution G A intron_variant MELA-AU 6 170009946 170009946 single base substitution T G intron_variant MELA-AU 6 170010051 170010051 single base substitution C T intron_variant MELA-AU 6 170010170 170010170 single base substitution G A intron_variant MELA-AU 6 170010632 170010632 single base substitution G A intron_variant MELA-AU 6 170011176 170011176 single base substitution G A intron_variant MELA-AU 6 170011289 170011289 single base substitution A G intron_variant MELA-AU 6 170012161 170012161 single base substitution G C intron_variant MELA-AU 6 170013713 170013713 single base substitution G A exon_variant MELA-AU 6 170013713 170013713 single base substitution G A missense_variant L628F 1882C>T MELA-AU 6 170013713 170013713 single base substitution G A missense_variant L755F 2263C>T MELA-AU 6 170013769 170013769 single base substitution G A intron_variant MELA-AU 6 170014094 170014094 single base substitution A T intron_variant MELA-AU 6 170014817 170014817 single base substitution G C intron_variant MELA-AU 6 170015013 170015013 single base substitution C T intron_variant MELA-AU 6 170015879 170015879 single base substitution G A intron_variant MELA-AU 6 170016011 170016011 single base substitution G A intron_variant MELA-AU 6 170018170 170018170 single base substitution G A intron_variant MELA-AU 6 170019258 170019258 single base substitution G A intron_variant MELA-AU 6 170019337 170019337 single base substitution G A intron_variant MELA-AU 6 170020019 170020019 single base substitution G A intron_variant MELA-AU 6 170020329 170020329 single base substitution C T intron_variant MELA-AU 6 170020473 170020473 single base substitution G T intron_variant MELA-AU 6 170021475 170021475 single base substitution G A intron_variant MELA-AU 6 170021867 170021867 single base substitution C T intron_variant MELA-AU 6 170022394 170022394 single base substitution G A intron_variant MELA-AU 6 170022575 170022575 single base substitution G A intron_variant MELA-AU 6 170023443 170023443 single base substitution A T intron_variant MELA-AU 6 170023586 170023586 single base substitution C T intron_variant MELA-AU 6 170024460 170024460 single base substitution G A intron_variant MELA-AU 6 170024664 170024664 single base substitution G A intron_variant MELA-AU 6 170024757 170024757 single base substitution G A intron_variant MELA-AU 6 170024993 170024993 single base substitution G A intron_variant MELA-AU 6 170024997 170024997 single base substitution G A intron_variant MELA-AU 6 170025184 170025184 single base substitution G A intron_variant MELA-AU 6 170025317 170025317 single base substitution G A intron_variant MELA-AU 6 170025405 170025405 single base substitution G A intron_variant MELA-AU 6 170025615 170025615 single base substitution G A intron_variant MELA-AU 6 170025859 170025859 single base substitution G A intron_variant MELA-AU 6 170026121 170026121 single base substitution G A intron_variant MELA-AU 6 170026154 170026154 single base substitution G A intron_variant MELA-AU 6 170027851 170027851 single base substitution G A intron_variant MELA-AU 6 170027912 170027912 single base substitution C T intron_variant MELA-AU 6 170029010 170029010 single base substitution G A intron_variant MELA-AU 6 170029070 170029070 single base substitution G A intron_variant MELA-AU 6 170029071 170029071 single base substitution G A intron_variant MELA-AU 6 170029833 170029833 single base substitution G A intron_variant MELA-AU 6 170029896 170029896 single base substitution G A intron_variant MELA-AU 6 170030177 170030177 single base substitution T G intron_variant MELA-AU 6 170030966 170030966 single base substitution G A intron_variant MELA-AU 6 170031569 170031569 single base substitution G A intron_variant MELA-AU 6 170031653 170031653 single base substitution C T intron_variant MELA-AU 6 170031917 170031917 single base substitution C T intron_variant MELA-AU 6 170032210 170032210 single base substitution G A intron_variant MELA-AU 6 170032260 170032260 single base substitution G A intron_variant MELA-AU 6 170032898 170032898 single base substitution G A intron_variant MELA-AU 6 170032959 170032959 single base substitution A T intron_variant MELA-AU 6 170033294 170033294 single base substitution C T intron_variant MELA-AU 6 170033666 170033666 single base substitution A T intron_variant MELA-AU 6 170033752 170033752 single base substitution G A intron_variant MELA-AU 6 170034514 170034514 single base substitution G A intron_variant MELA-AU 6 170034519 170034519 single base substitution G A splice_region_variant MELA-AU 6 170035246 170035246 single base substitution G A intron_variant MELA-AU 6 170035248 170035249 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 170035620 170035620 single base substitution G A intron_variant MELA-AU 6 170035743 170035743 single base substitution C T intron_variant MELA-AU 6 170035967 170035967 single base substitution A G intron_variant MELA-AU 6 170035969 170035969 single base substitution G A intron_variant MELA-AU 6 170035990 170035990 single base substitution G A intron_variant MELA-AU 6 170036985 170036985 single base substitution G A intron_variant MELA-AU 6 170037305 170037305 single base substitution G A intron_variant MELA-AU 6 170039132 170039132 single base substitution C T intron_variant MELA-AU 6 170039271 170039271 single base substitution G A intron_variant MELA-AU 6 170039521 170039521 single base substitution A C intron_variant MELA-AU 6 170039975 170039975 single base substitution G A intron_variant MELA-AU 6 170039994 170039994 single base substitution G A intron_variant MELA-AU 6 170040001 170040001 single base substitution G A intron_variant MELA-AU 6 170040294 170040294 single base substitution G A intron_variant MELA-AU 6 170040646 170040646 single base substitution G A intron_variant MELA-AU 6 170041033 170041033 single base substitution G A intron_variant MELA-AU 6 170041413 170041413 single base substitution G A intron_variant MELA-AU 6 170041737 170041738 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 170041793 170041793 single base substitution G A intron_variant MELA-AU 6 170042082 170042082 single base substitution G A intron_variant MELA-AU 6 170042250 170042250 single base substitution G A intron_variant MELA-AU 6 170042322 170042322 single base substitution G A intron_variant MELA-AU 6 170042508 170042508 single base substitution G A intron_variant MELA-AU 6 170042562 170042562 single base substitution G A intron_variant MELA-AU 6 170045184 170045184 single base substitution T C downstream_gene_variant MELA-AU 6 170045184 170045184 single base substitution T C intron_variant MELA-AU 6 170045447 170045447 single base substitution A C downstream_gene_variant MELA-AU 6 170045447 170045447 single base substitution A C intron_variant MELA-AU 6 170047040 170047040 single base substitution T C downstream_gene_variant MELA-AU 6 170047040 170047040 single base substitution T C intron_variant MELA-AU 6 170047203 170047203 single base substitution G A downstream_gene_variant MELA-AU 6 170047203 170047203 single base substitution G A intron_variant MELA-AU 6 170047381 170047381 single base substitution G A downstream_gene_variant MELA-AU 6 170047381 170047381 single base substitution G A intron_variant MELA-AU 6 170047409 170047409 single base substitution G A downstream_gene_variant MELA-AU 6 170047409 170047409 single base substitution G A intron_variant MELA-AU 6 170047414 170047414 single base substitution G A downstream_gene_variant MELA-AU 6 170047414 170047414 single base substitution G A intron_variant MELA-AU 6 170047436 170047436 single base substitution G A downstream_gene_variant MELA-AU 6 170047436 170047436 single base substitution G A intron_variant MELA-AU 6 170048042 170048042 single base substitution G T intron_variant MELA-AU 6 170048097 170048097 single base substitution T G intron_variant MELA-AU 6 170048340 170048340 single base substitution A C intron_variant MELA-AU 6 170048907 170048907 single base substitution C T intron_variant MELA-AU 6 170049758 170049758 single base substitution G A intron_variant MELA-AU 6 170049758 170049758 single base substitution G A upstream_gene_variant MELA-AU 6 170051136 170051136 single base substitution G A intron_variant MELA-AU 6 170051136 170051136 single base substitution G A upstream_gene_variant MELA-AU 6 170051644 170051644 single base substitution T A intron_variant MELA-AU 6 170051644 170051644 single base substitution T A upstream_gene_variant MELA-AU 6 170052306 170052306 single base substitution G A intron_variant MELA-AU 6 170052306 170052306 single base substitution G A upstream_gene_variant MELA-AU 6 170052548 170052548 single base substitution T C intron_variant MELA-AU 6 170052548 170052548 single base substitution T C upstream_gene_variant MELA-AU 6 170052613 170052613 single base substitution G A intron_variant MELA-AU 6 170052613 170052613 single base substitution G A upstream_gene_variant MELA-AU 6 170052795 170052795 single base substitution G A intron_variant MELA-AU 6 170052795 170052795 single base substitution G A upstream_gene_variant MELA-AU 6 170053024 170053024 single base substitution G A downstream_gene_variant MELA-AU 6 170053024 170053024 single base substitution G A intron_variant MELA-AU 6 170053024 170053024 single base substitution G A upstream_gene_variant MELA-AU 6 170053599 170053599 single base substitution A T downstream_gene_variant MELA-AU 6 170053599 170053599 single base substitution A T intron_variant MELA-AU 6 170053599 170053599 single base substitution A T upstream_gene_variant MELA-AU 6 170053970 170053970 single base substitution C T downstream_gene_variant MELA-AU 6 170053970 170053970 single base substitution C T intron_variant MELA-AU 6 170053970 170053970 single base substitution C T upstream_gene_variant MELA-AU 6 170053982 170053982 single base substitution G A downstream_gene_variant MELA-AU 6 170053982 170053982 single base substitution G A intron_variant MELA-AU 6 170053982 170053982 single base substitution G A upstream_gene_variant MELA-AU 6 170054155 170054155 single base substitution A C downstream_gene_variant MELA-AU 6 170054155 170054155 single base substitution A C intron_variant MELA-AU 6 170054155 170054155 single base substitution A C upstream_gene_variant MELA-AU 6 170054293 170054293 single base substitution G A downstream_gene_variant MELA-AU 6 170054293 170054293 single base substitution G A intron_variant MELA-AU 6 170054293 170054293 single base substitution G A upstream_gene_variant MELA-AU 6 170054963 170054963 single base substitution G A downstream_gene_variant MELA-AU 6 170054963 170054963 single base substitution G A intron_variant MELA-AU 6 170055051 170055051 single base substitution G A downstream_gene_variant MELA-AU 6 170055051 170055051 single base substitution G A intron_variant MELA-AU 6 170056401 170056401 single base substitution G A downstream_gene_variant MELA-AU 6 170056401 170056401 single base substitution G A intron_variant MELA-AU 6 170056605 170056605 single base substitution G A downstream_gene_variant MELA-AU 6 170056605 170056605 single base substitution G A intron_variant MELA-AU 6 170056719 170056719 single base substitution G A downstream_gene_variant MELA-AU 6 170056719 170056719 single base substitution G A intron_variant MELA-AU 6 170056776 170056776 single base substitution G A downstream_gene_variant MELA-AU 6 170056776 170056776 single base substitution G A intron_variant MELA-AU 6 170057252 170057252 single base substitution G A downstream_gene_variant MELA-AU 6 170057252 170057252 single base substitution G A intron_variant MELA-AU 6 170057491 170057491 single base substitution A G downstream_gene_variant MELA-AU 6 170057491 170057491 single base substitution A G intron_variant MELA-AU 6 170057495 170057495 single base substitution C A downstream_gene_variant MELA-AU 6 170057495 170057495 single base substitution C A intron_variant MELA-AU 6 170057578 170057578 single base substitution G A downstream_gene_variant MELA-AU 6 170057578 170057578 single base substitution G A intron_variant MELA-AU 6 170057580 170057580 single base substitution G C downstream_gene_variant MELA-AU 6 170057580 170057580 single base substitution G C intron_variant MELA-AU 6 170057635 170057635 single base substitution G A downstream_gene_variant MELA-AU 6 170057635 170057635 single base substitution G A intron_variant MELA-AU 6 170057745 170057745 single base substitution G A downstream_gene_variant MELA-AU 6 170057745 170057745 single base substitution G A intron_variant MELA-AU 6 170058161 170058162 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 6 170058161 170058162 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 170058258 170058258 single base substitution G A downstream_gene_variant MELA-AU 6 170058258 170058258 single base substitution G A intron_variant MELA-AU 6 170058583 170058583 single base substitution G A downstream_gene_variant MELA-AU 6 170058583 170058583 single base substitution G A intron_variant MELA-AU 6 170058621 170058621 single base substitution G A downstream_gene_variant MELA-AU 6 170058621 170058621 single base substitution G A intron_variant MELA-AU 6 170058782 170058782 single base substitution C T downstream_gene_variant MELA-AU 6 170058782 170058782 single base substitution C T intron_variant MELA-AU 6 170058783 170058783 single base substitution T C downstream_gene_variant MELA-AU 6 170058783 170058783 single base substitution T C intron_variant MELA-AU 6 170059654 170059654 single base substitution G A downstream_gene_variant MELA-AU 6 170059654 170059654 single base substitution G A intron_variant MELA-AU 6 170059673 170059673 single base substitution G A downstream_gene_variant MELA-AU 6 170059673 170059673 single base substitution G A intron_variant MELA-AU 6 170059938 170059938 single base substitution G A downstream_gene_variant MELA-AU 6 170059938 170059938 single base substitution G A intron_variant MELA-AU 6 170059971 170059971 single base substitution G A downstream_gene_variant MELA-AU 6 170059971 170059971 single base substitution G A intron_variant MELA-AU 6 170060460 170060460 single base substitution G A downstream_gene_variant MELA-AU 6 170060460 170060460 single base substitution G A intron_variant MELA-AU 6 170060494 170060494 single base substitution C T downstream_gene_variant MELA-AU 6 170060494 170060494 single base substitution C T intron_variant MELA-AU 6 170060574 170060574 single base substitution G A downstream_gene_variant MELA-AU 6 170060574 170060574 single base substitution G A intron_variant MELA-AU 6 170060872 170060872 single base substitution G A downstream_gene_variant MELA-AU 6 170060872 170060872 single base substitution G A intron_variant MELA-AU 6 170060872 170060872 single base substitution G A upstream_gene_variant MELA-AU 6 170061438 170061438 single base substitution G A downstream_gene_variant MELA-AU 6 170061438 170061438 single base substitution G A intron_variant MELA-AU 6 170061438 170061438 single base substitution G A upstream_gene_variant MELA-AU 6 170062090 170062090 single base substitution T C downstream_gene_variant MELA-AU 6 170062090 170062090 single base substitution T C intron_variant MELA-AU 6 170062090 170062090 single base substitution T C upstream_gene_variant MELA-AU 6 170062892 170062892 single base substitution G A downstream_gene_variant MELA-AU 6 170062892 170062892 single base substitution G A intron_variant MELA-AU 6 170062892 170062892 single base substitution G A upstream_gene_variant MELA-AU 6 170063179 170063179 single base substitution G A downstream_gene_variant MELA-AU 6 170063179 170063179 single base substitution G A intron_variant MELA-AU 6 170063179 170063179 single base substitution G A upstream_gene_variant MELA-AU 6 170063220 170063220 single base substitution G A downstream_gene_variant MELA-AU 6 170063220 170063220 single base substitution G A intron_variant MELA-AU 6 170063220 170063220 single base substitution G A upstream_gene_variant MELA-AU 6 170063431 170063431 single base substitution G A downstream_gene_variant MELA-AU 6 170063431 170063431 single base substitution G A intron_variant MELA-AU 6 170063431 170063431 single base substitution G A upstream_gene_variant MELA-AU 6 170063816 170063816 single base substitution G A downstream_gene_variant MELA-AU 6 170063816 170063816 single base substitution G A exon_variant MELA-AU 6 170063816 170063816 single base substitution G A intron_variant MELA-AU 6 170063816 170063816 single base substitution G A upstream_gene_variant MELA-AU 6 170064456 170064456 single base substitution G A downstream_gene_variant MELA-AU 6 170064456 170064456 single base substitution G A exon_variant MELA-AU 6 170064456 170064456 single base substitution G A intron_variant MELA-AU 6 170064456 170064456 single base substitution G A upstream_gene_variant MELA-AU 6 170064772 170064772 single base substitution G A downstream_gene_variant MELA-AU 6 170064772 170064772 single base substitution G A exon_variant MELA-AU 6 170064772 170064772 single base substitution G A intron_variant MELA-AU 6 170064772 170064772 single base substitution G A upstream_gene_variant MELA-AU 6 170065991 170065991 single base substitution C T downstream_gene_variant MELA-AU 6 170065991 170065991 single base substitution C T intron_variant MELA-AU 6 170065991 170065991 single base substitution C T upstream_gene_variant MELA-AU 6 170066773 170066774 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 6 170066773 170066774 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 170066773 170066774 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 170067531 170067531 single base substitution A T downstream_gene_variant MELA-AU 6 170067531 170067531 single base substitution A T intron_variant MELA-AU 6 170067531 170067531 single base substitution A T upstream_gene_variant MELA-AU 6 170067970 170067970 single base substitution A G downstream_gene_variant MELA-AU 6 170067970 170067970 single base substitution A G intron_variant MELA-AU 6 170067970 170067970 single base substitution A G upstream_gene_variant MELA-AU 6 170068103 170068103 single base substitution G A downstream_gene_variant MELA-AU 6 170068103 170068103 single base substitution G A exon_variant MELA-AU 6 170068103 170068103 single base substitution G A intron_variant MELA-AU 6 170068103 170068103 single base substitution G A missense_variant S212L 635C>T MELA-AU 6 170068103 170068103 single base substitution G A upstream_gene_variant MELA-AU 6 170068128 170068128 single base substitution G A downstream_gene_variant MELA-AU 6 170068128 170068128 single base substitution G A exon_variant MELA-AU 6 170068128 170068128 single base substitution G A intron_variant MELA-AU 6 170068128 170068128 single base substitution G A missense_variant P204S 610C>T MELA-AU 6 170068128 170068128 single base substitution G A upstream_gene_variant MELA-AU 6 170068760 170068760 single base substitution G A downstream_gene_variant MELA-AU 6 170068760 170068760 single base substitution G A exon_variant MELA-AU 6 170068760 170068760 single base substitution G A intron_variant MELA-AU 6 170068760 170068760 single base substitution G A upstream_gene_variant MELA-AU 6 170069352 170069352 single base substitution G A downstream_gene_variant MELA-AU 6 170069352 170069352 single base substitution G A intron_variant MELA-AU 6 170069352 170069352 single base substitution G A upstream_gene_variant MELA-AU 6 170070563 170070563 single base substitution G A downstream_gene_variant MELA-AU 6 170070563 170070563 single base substitution G A exon_variant MELA-AU 6 170070563 170070563 single base substitution G A intron_variant MELA-AU 6 170070563 170070563 single base substitution G A upstream_gene_variant MELA-AU 6 170070918 170070918 single base substitution G A downstream_gene_variant MELA-AU 6 170070918 170070918 single base substitution G A exon_variant MELA-AU 6 170070918 170070918 single base substitution G A intron_variant MELA-AU 6 170070918 170070918 single base substitution G A upstream_gene_variant MELA-AU 6 170071068 170071068 single base substitution T G downstream_gene_variant MELA-AU 6 170071068 170071068 single base substitution T G exon_variant MELA-AU 6 170071068 170071068 single base substitution T G intron_variant MELA-AU 6 170071068 170071068 single base substitution T G upstream_gene_variant MELA-AU 6 170071272 170071272 single base substitution C T downstream_gene_variant MELA-AU 6 170071272 170071272 single base substitution C T exon_variant MELA-AU 6 170071272 170071272 single base substitution C T intron_variant MELA-AU 6 170071272 170071272 single base substitution C T upstream_gene_variant MELA-AU 6 170071421 170071421 single base substitution C T downstream_gene_variant MELA-AU 6 170071421 170071421 single base substitution C T exon_variant MELA-AU 6 170071421 170071421 single base substitution C T intron_variant MELA-AU 6 170071421 170071421 single base substitution C T upstream_gene_variant MELA-AU 6 170071677 170071677 single base substitution G A downstream_gene_variant MELA-AU 6 170071677 170071677 single base substitution G A exon_variant MELA-AU 6 170071677 170071677 single base substitution G A intron_variant MELA-AU 6 170071677 170071677 single base substitution G A upstream_gene_variant MELA-AU 6 170071934 170071934 single base substitution G A downstream_gene_variant MELA-AU 6 170071934 170071934 single base substitution G A exon_variant MELA-AU 6 170071934 170071934 single base substitution G A intron_variant MELA-AU 6 170071934 170071934 single base substitution G A upstream_gene_variant MELA-AU 6 170072983 170072983 single base substitution G A intron_variant MELA-AU 6 170072983 170072983 single base substitution G A upstream_gene_variant MELA-AU 6 170073114 170073114 single base substitution G A intron_variant MELA-AU 6 170073114 170073114 single base substitution G A upstream_gene_variant MELA-AU 6 170073919 170073919 single base substitution T C intron_variant MELA-AU 6 170073919 170073919 single base substitution T C upstream_gene_variant MELA-AU 6 170073987 170073987 single base substitution G A intron_variant MELA-AU 6 170073987 170073987 single base substitution G A upstream_gene_variant MELA-AU 6 170074126 170074126 single base substitution G A intron_variant MELA-AU 6 170074126 170074126 single base substitution G A upstream_gene_variant MELA-AU 6 170074682 170074682 single base substitution G T intron_variant MELA-AU 6 170074682 170074682 single base substitution G T upstream_gene_variant MELA-AU 6 170074751 170074751 single base substitution G A intron_variant MELA-AU 6 170074751 170074751 single base substitution G A upstream_gene_variant MELA-AU 6 170074929 170074929 single base substitution G A intron_variant MELA-AU 6 170074929 170074929 single base substitution G A upstream_gene_variant MELA-AU 6 170075526 170075526 single base substitution G A intron_variant MELA-AU 6 170075526 170075526 single base substitution G A upstream_gene_variant MELA-AU 6 170075584 170075584 single base substitution C T intron_variant MELA-AU 6 170075584 170075584 single base substitution C T upstream_gene_variant MELA-AU 6 170075980 170075980 single base substitution G A intron_variant MELA-AU 6 170075996 170075996 single base substitution G A intron_variant MELA-AU 6 170076271 170076271 single base substitution G A intron_variant MELA-AU 6 170076742 170076742 single base substitution G A intron_variant MELA-AU 6 170076825 170076825 single base substitution T C intron_variant MELA-AU 6 170077265 170077265 single base substitution G C intron_variant MELA-AU 6 170077827 170077827 single base substitution G A intron_variant MELA-AU 6 170077918 170077918 single base substitution C T intron_variant MELA-AU 6 170078146 170078146 single base substitution G A intron_variant MELA-AU 6 170079166 170079166 single base substitution A G intron_variant MELA-AU 6 170079245 170079245 single base substitution G A intron_variant MELA-AU 6 170079497 170079497 single base substitution G A intron_variant MELA-AU 6 170079673 170079673 single base substitution G A intron_variant MELA-AU 6 170080000 170080000 single base substitution G A intron_variant MELA-AU 6 170080437 170080437 single base substitution G A intron_variant MELA-AU 6 170080496 170080496 single base substitution G A intron_variant MELA-AU 6 170081378 170081378 single base substitution G A intron_variant MELA-AU 6 170081565 170081565 single base substitution G A intron_variant MELA-AU 6 170081586 170081586 single base substitution C A intron_variant MELA-AU 6 170082379 170082379 single base substitution T A intron_variant MELA-AU 6 170083020 170083020 single base substitution G A intron_variant MELA-AU 6 170083175 170083175 single base substitution G A intron_variant MELA-AU 6 170083439 170083439 single base substitution A G intron_variant MELA-AU 6 170084241 170084241 single base substitution A G intron_variant MELA-AU 6 170084851 170084851 single base substitution G A intron_variant MELA-AU 6 170085463 170085463 single base substitution G A intron_variant MELA-AU 6 170085552 170085552 single base substitution G A intron_variant MELA-AU 6 170085609 170085609 single base substitution A T intron_variant MELA-AU 6 170085861 170085861 single base substitution G A intron_variant MELA-AU 6 170086393 170086393 single base substitution G A intron_variant MELA-AU 6 170086826 170086826 single base substitution G A intron_variant MELA-AU 6 170087106 170087106 single base substitution G A intron_variant MELA-AU 6 170087421 170087421 single base substitution A T intron_variant MELA-AU 6 170087731 170087731 single base substitution T C intron_variant MELA-AU 6 170087785 170087785 single base substitution G A intron_variant MELA-AU 6 170087937 170087937 single base substitution G A intron_variant MELA-AU 6 170088683 170088683 single base substitution G A intron_variant MELA-AU 6 170088863 170088863 single base substitution G A intron_variant MELA-AU 6 170090163 170090163 single base substitution G A intron_variant MELA-AU 6 170090703 170090703 single base substitution G A intron_variant MELA-AU 6 170092105 170092105 single base substitution A G intron_variant MELA-AU 6 170092157 170092157 single base substitution G A intron_variant MELA-AU 6 170092374 170092374 single base substitution G A intron_variant MELA-AU 6 170092703 170092703 single base substitution A C intron_variant MELA-AU 6 170092900 170092900 single base substitution G A intron_variant MELA-AU 6 170093094 170093094 single base substitution T A intron_variant MELA-AU 6 170093731 170093731 single base substitution G A intron_variant MELA-AU 6 170093810 170093810 single base substitution G A intron_variant MELA-AU 6 170094228 170094228 single base substitution A G intron_variant MELA-AU 6 170094395 170094395 single base substitution G A intron_variant MELA-AU 6 170094428 170094428 single base substitution A T intron_variant MELA-AU 6 170094813 170094813 single base substitution G A intron_variant MELA-AU 6 170096034 170096034 single base substitution G A intron_variant MELA-AU 6 170096220 170096220 single base substitution T A intron_variant MELA-AU 6 170096265 170096265 single base substitution G A intron_variant MELA-AU 6 170096829 170096829 single base substitution G A intron_variant MELA-AU 6 170097219 170097219 single base substitution G A intron_variant MELA-AU 6 170097766 170097766 single base substitution A C intron_variant MELA-AU 6 170099308 170099308 single base substitution G A intron_variant MELA-AU 6 170100404 170100404 single base substitution C A intron_variant MELA-AU 6 170100579 170100579 single base substitution C T intron_variant MELA-AU 6 170100986 170100986 single base substitution G A intron_variant MELA-AU 6 170100997 170100997 single base substitution T C intron_variant MELA-AU 6 170101131 170101131 single base substitution A G intron_variant MELA-AU 6 170102031 170102031 single base substitution C T 5_prime_UTR_variant MELA-AU 6 170102031 170102031 single base substitution C T upstream_gene_variant MELA-AU 6 170102089 170102089 single base substitution G A 5_prime_UTR_variant MELA-AU 6 170102089 170102089 single base substitution G A upstream_gene_variant MELA-AU 6 170102193 170102193 single base substitution C T upstream_gene_variant MELA-AU 6 170102297 170102297 single base substitution G A upstream_gene_variant MELA-AU 6 170102492 170102492 single base substitution G A upstream_gene_variant MELA-AU 6 170103057 170103092 deletion of <=200bp TCGCAAGAGGAGGAATCTGTTCTCTGGACGATATTA - upstream_gene_variant MELA-AU 6 170103805 170103805 single base substitution G A upstream_gene_variant MELA-AU 6 170103831 170103831 single base substitution G A upstream_gene_variant ORCA-IN 6 169852587 169852609 deletion of <=200bp CGTGGGGTCAGAGAGGAGCCGTG - downstream_gene_variant ORCA-IN 6 169916922 169916922 single base substitution A C intron_variant ORCA-IN 6 169964864 169964864 single base substitution C T intron_variant ORCA-IN 6 169973134 169973134 single base substitution C G intron_variant ORCA-IN 6 169978094 169978094 single base substitution C G intron_variant ORCA-IN 6 169985686 169985686 single base substitution T A intron_variant ORCA-IN 6 169992924 169992924 single base substitution G C intron_variant ORCA-IN 6 170025932 170025932 single base substitution C G intron_variant ORCA-IN 6 170029924 170029924 single base substitution G A intron_variant ORCA-IN 6 170064279 170064279 single base substitution C A 3_prime_UTR_variant ORCA-IN 6 170064279 170064279 single base substitution C A downstream_gene_variant ORCA-IN 6 170064279 170064279 single base substitution C A exon_variant ORCA-IN 6 170064279 170064279 single base substitution C A missense_variant G169V 506G>T ORCA-IN 6 170064279 170064279 single base substitution C A missense_variant G296V 887G>T ORCA-IN 6 170064279 170064279 single base substitution C A upstream_gene_variant ORCA-IN 6 170101418 170101418 single base substitution T C intron_variant OV-AU 6 169854707 169854707 single base substitution C A downstream_gene_variant OV-AU 6 169856649 169856649 single base substitution T C downstream_gene_variant OV-AU 6 169864080 169864080 single base substitution T A intron_variant OV-AU 6 169870007 169870007 single base substitution C A intron_variant OV-AU 6 169871460 169871460 single base substitution G C intron_variant OV-AU 6 169871496 169871496 single base substitution T A intron_variant OV-AU 6 169876690 169876690 single base substitution G A intron_variant OV-AU 6 169881068 169881068 single base substitution T C intron_variant OV-AU 6 169881345 169881345 single base substitution T A intron_variant OV-AU 6 169883181 169883181 single base substitution A G intron_variant OV-AU 6 169884284 169884284 single base substitution A G intron_variant OV-AU 6 169886088 169886088 single base substitution G A intron_variant OV-AU 6 169887093 169887093 single base substitution G T intron_variant OV-AU 6 169892022 169892022 single base substitution A C intron_variant OV-AU 6 169892603 169892603 single base substitution A C intron_variant OV-AU 6 169901085 169901085 single base substitution G C intron_variant OV-AU 6 169901893 169901893 single base substitution C A intron_variant OV-AU 6 169911103 169911103 single base substitution A T intron_variant OV-AU 6 169911499 169911499 single base substitution C T intron_variant OV-AU 6 169925904 169925904 single base substitution C T intron_variant OV-AU 6 169925991 169925991 single base substitution T G intron_variant OV-AU 6 169929954 169929954 single base substitution G A intron_variant OV-AU 6 169929955 169929955 single base substitution C T intron_variant OV-AU 6 169941359 169941359 single base substitution A T intron_variant OV-AU 6 169943413 169943413 single base substitution A G intron_variant OV-AU 6 169948544 169948544 single base substitution G C intron_variant OV-AU 6 169950019 169950019 single base substitution G C intron_variant OV-AU 6 169950626 169950626 single base substitution C G intron_variant OV-AU 6 169961924 169961924 single base substitution T G intron_variant OV-AU 6 169962289 169962289 single base substitution C A intron_variant OV-AU 6 169964977 169964977 single base substitution C A intron_variant OV-AU 6 169969468 169969468 single base substitution C T intron_variant OV-AU 6 169971767 169971767 single base substitution A T intron_variant OV-AU 6 169989960 169989960 single base substitution C T intron_variant OV-AU 6 169990401 169990401 single base substitution A G intron_variant OV-AU 6 169993694 169993694 single base substitution T C intron_variant OV-AU 6 170002327 170002327 single base substitution G A exon_variant OV-AU 6 170002327 170002327 single base substitution G A synonymous_variant A677A 2031C>T OV-AU 6 170002327 170002327 single base substitution G A synonymous_variant A804A 2412C>T OV-AU 6 170015386 170015386 single base substitution C T intron_variant OV-AU 6 170020898 170020898 single base substitution G A intron_variant OV-AU 6 170025353 170025353 single base substitution C G intron_variant OV-AU 6 170027803 170027803 single base substitution A C intron_variant OV-AU 6 170028429 170028429 single base substitution G A intron_variant OV-AU 6 170028616 170028616 single base substitution A T intron_variant OV-AU 6 170038008 170038008 single base substitution C G intron_variant OV-AU 6 170038704 170038704 single base substitution C A exon_variant OV-AU 6 170038704 170038704 single base substitution C A synonymous_variant L473L 1419G>T OV-AU 6 170038704 170038704 single base substitution C A synonymous_variant L600L 1800G>T OV-AU 6 170039773 170039773 single base substitution G A intron_variant OV-AU 6 170045455 170045455 single base substitution T C downstream_gene_variant OV-AU 6 170045455 170045455 single base substitution T C intron_variant OV-AU 6 170059398 170059398 single base substitution C G downstream_gene_variant OV-AU 6 170059398 170059398 single base substitution C G intron_variant OV-AU 6 170062226 170062226 single base substitution A G downstream_gene_variant OV-AU 6 170062226 170062226 single base substitution A G intron_variant OV-AU 6 170062226 170062226 single base substitution A G upstream_gene_variant OV-AU 6 170075709 170075709 single base substitution G C intron_variant OV-AU 6 170075709 170075709 single base substitution G C upstream_gene_variant OV-AU 6 170083066 170083066 single base substitution G C intron_variant OV-AU 6 170087683 170087683 single base substitution C G intron_variant OV-AU 6 170088605 170088605 single base substitution G A intron_variant OV-AU 6 170090047 170090047 single base substitution C G intron_variant OV-AU 6 170090704 170090704 single base substitution A G intron_variant OV-AU 6 170097104 170097104 single base substitution C T intron_variant OV-AU 6 170100003 170100003 single base substitution C G intron_variant PACA-AU 6 169852689 169852689 single base substitution G T downstream_gene_variant PACA-AU 6 169856549 169856549 single base substitution C T downstream_gene_variant PACA-AU 6 169856931 169856931 single base substitution G A downstream_gene_variant PACA-AU 6 169857889 169857889 single base substitution T A intron_variant PACA-AU 6 169862569 169862569 deletion of <=200bp A - intron_variant PACA-AU 6 169865364 169865364 single base substitution A G intron_variant PACA-AU 6 169865373 169865373 single base substitution A G intron_variant PACA-AU 6 169865848 169865848 single base substitution C T intron_variant PACA-AU 6 169900690 169900690 single base substitution A C intron_variant PACA-AU 6 169901535 169901535 single base substitution G C intron_variant PACA-AU 6 169901599 169901599 single base substitution G T intron_variant PACA-AU 6 169902851 169902851 single base substitution G A intron_variant PACA-AU 6 169903122 169903126 deletion of <=200bp CATTT - intron_variant PACA-AU 6 169905666 169905666 single base substitution T C intron_variant PACA-AU 6 169910351 169910351 single base substitution T C intron_variant PACA-AU 6 169917101 169917101 single base substitution T G intron_variant PACA-AU 6 169920135 169920135 single base substitution C T intron_variant PACA-AU 6 169920520 169920520 insertion of <=200bp - A intron_variant PACA-AU 6 169923528 169923528 single base substitution C A intron_variant PACA-AU 6 169927083 169927083 single base substitution T A intron_variant PACA-AU 6 169927989 169927989 single base substitution G T intron_variant PACA-AU 6 169931471 169931471 single base substitution C T intron_variant PACA-AU 6 169933201 169933201 single base substitution G C intron_variant PACA-AU 6 169933289 169933289 single base substitution G T intron_variant PACA-AU 6 169938668 169938668 single base substitution T C intron_variant PACA-AU 6 169941146 169941146 single base substitution C T intron_variant PACA-AU 6 169946739 169946739 single base substitution C A intron_variant PACA-AU 6 169950503 169950503 single base substitution A C intron_variant PACA-AU 6 169951679 169951679 single base substitution A G intron_variant PACA-AU 6 169957951 169957951 single base substitution A G downstream_gene_variant PACA-AU 6 169957951 169957951 single base substitution A G intron_variant PACA-AU 6 169959298 169959298 deletion of <=200bp T - exon_variant PACA-AU 6 169959298 169959298 deletion of <=200bp T - intron_variant PACA-AU 6 169959808 169959808 single base substitution C T exon_variant PACA-AU 6 169959808 169959808 single base substitution C T intron_variant PACA-AU 6 169960301 169960301 single base substitution G A intron_variant PACA-AU 6 169962455 169962455 single base substitution C T intron_variant PACA-AU 6 169965218 169965218 single base substitution C T intron_variant PACA-AU 6 169967280 169967280 single base substitution C T intron_variant PACA-AU 6 169968813 169968813 single base substitution T A intron_variant PACA-AU 6 169977772 169977772 single base substitution G A intron_variant PACA-AU 6 169978187 169978187 single base substitution G A intron_variant PACA-AU 6 169981231 169981231 single base substitution G A intron_variant PACA-AU 6 169995153 169995153 single base substitution G C intron_variant PACA-AU 6 169998835 169998835 single base substitution G A intron_variant PACA-AU 6 170000135 170000135 single base substitution C T intron_variant PACA-AU 6 170000989 170000989 single base substitution C T intron_variant PACA-AU 6 170007486 170007486 single base substitution G A intron_variant PACA-AU 6 170011593 170011593 single base substitution G A intron_variant PACA-AU 6 170015608 170015608 single base substitution C A intron_variant PACA-AU 6 170020308 170020308 single base substitution A T intron_variant PACA-AU 6 170024205 170024205 single base substitution C T intron_variant PACA-AU 6 170026578 170026578 single base substitution T G intron_variant PACA-AU 6 170030383 170030383 single base substitution T C intron_variant PACA-AU 6 170033225 170033225 single base substitution C T intron_variant PACA-AU 6 170034277 170034277 single base substitution C T intron_variant PACA-AU 6 170046127 170046127 single base substitution G C downstream_gene_variant PACA-AU 6 170046127 170046127 single base substitution G C intron_variant PACA-AU 6 170057128 170057128 single base substitution A C downstream_gene_variant PACA-AU 6 170057128 170057128 single base substitution A C intron_variant PACA-AU 6 170064342 170064342 single base substitution C T 3_prime_UTR_variant PACA-AU 6 170064342 170064342 single base substitution C T downstream_gene_variant PACA-AU 6 170064342 170064342 single base substitution C T exon_variant PACA-AU 6 170064342 170064342 single base substitution C T missense_variant R148H 443G>A PACA-AU 6 170064342 170064342 single base substitution C T missense_variant R275H 824G>A PACA-AU 6 170064342 170064342 single base substitution C T upstream_gene_variant PACA-AU 6 170065600 170065600 single base substitution G A downstream_gene_variant PACA-AU 6 170065600 170065600 single base substitution G A exon_variant PACA-AU 6 170065600 170065600 single base substitution G A missense_variant P170L 509C>T PACA-AU 6 170065600 170065600 single base substitution G A synonymous_variant T128T 384C>T PACA-AU 6 170065600 170065600 single base substitution G A synonymous_variant T255T 765C>T PACA-AU 6 170065600 170065600 single base substitution G A upstream_gene_variant PACA-AU 6 170066919 170066919 single base substitution C T downstream_gene_variant PACA-AU 6 170066919 170066919 single base substitution C T intron_variant PACA-AU 6 170066919 170066919 single base substitution C T upstream_gene_variant PACA-AU 6 170068414 170068414 single base substitution G C downstream_gene_variant PACA-AU 6 170068414 170068414 single base substitution G C intron_variant PACA-AU 6 170068414 170068414 single base substitution G C upstream_gene_variant PACA-AU 6 170071473 170071473 single base substitution C T downstream_gene_variant PACA-AU 6 170071473 170071473 single base substitution C T exon_variant PACA-AU 6 170071473 170071473 single base substitution C T intron_variant PACA-AU 6 170071473 170071473 single base substitution C T upstream_gene_variant PACA-AU 6 170073922 170073922 single base substitution G A intron_variant PACA-AU 6 170073922 170073922 single base substitution G A upstream_gene_variant PACA-AU 6 170075883 170075883 deletion of <=200bp G - intron_variant PACA-AU 6 170078623 170078623 single base substitution A C intron_variant PACA-AU 6 170082986 170082986 single base substitution C A intron_variant PACA-AU 6 170100204 170100204 single base substitution G A intron_variant PACA-AU 6 170104907 170104907 single base substitution C T upstream_gene_variant PACA-AU 6 170106557 170106557 single base substitution A G upstream_gene_variant PACA-AU 6 170106918 170106918 single base substitution C T upstream_gene_variant PACA-AU 6 170106952 170106952 single base substitution C G upstream_gene_variant PACA-AU 6 170107013 170107013 single base substitution C T upstream_gene_variant PACA-AU 6 170107014 170107014 single base substitution C T upstream_gene_variant PACA-CA 6 169853655 169853655 single base substitution G T downstream_gene_variant PACA-CA 6 169853747 169853747 single base substitution C T downstream_gene_variant PACA-CA 6 169854822 169854822 single base substitution C T downstream_gene_variant PACA-CA 6 169855901 169855901 single base substitution C T downstream_gene_variant PACA-CA 6 169863266 169863266 single base substitution A G intron_variant PACA-CA 6 169868104 169868104 single base substitution C T intron_variant PACA-CA 6 169868587 169868587 single base substitution C A intron_variant PACA-CA 6 169868867 169868867 single base substitution T C intron_variant PACA-CA 6 169870278 169870278 single base substitution C A intron_variant PACA-CA 6 169871050 169871050 single base substitution T C intron_variant PACA-CA 6 169888633 169888633 single base substitution C T intron_variant PACA-CA 6 169890520 169890520 single base substitution G A intron_variant PACA-CA 6 169890943 169890943 single base substitution C T intron_variant PACA-CA 6 169892344 169892344 single base substitution C T intron_variant PACA-CA 6 169895810 169895810 single base substitution T C intron_variant PACA-CA 6 169896133 169896133 single base substitution C G intron_variant PACA-CA 6 169898934 169898934 single base substitution G A intron_variant PACA-CA 6 169899035 169899035 single base substitution A C intron_variant PACA-CA 6 169901065 169901065 single base substitution C T intron_variant PACA-CA 6 169902140 169902140 single base substitution T C intron_variant PACA-CA 6 169902591 169902591 single base substitution G A intron_variant PACA-CA 6 169904060 169904060 single base substitution G A intron_variant PACA-CA 6 169910883 169910883 deletion of <=200bp A - intron_variant PACA-CA 6 169916598 169916598 single base substitution G A intron_variant PACA-CA 6 169922390 169922390 single base substitution C T intron_variant PACA-CA 6 169925357 169925357 single base substitution C T intron_variant PACA-CA 6 169929317 169929317 single base substitution T C intron_variant PACA-CA 6 169930602 169930602 single base substitution C T intron_variant PACA-CA 6 169930823 169930823 single base substitution C T intron_variant PACA-CA 6 169931048 169931048 single base substitution G T intron_variant PACA-CA 6 169932218 169932218 single base substitution T C intron_variant PACA-CA 6 169932355 169932355 single base substitution T A intron_variant PACA-CA 6 169934644 169934644 single base substitution T C intron_variant PACA-CA 6 169935517 169935517 single base substitution C A intron_variant PACA-CA 6 169944651 169944651 single base substitution C T intron_variant PACA-CA 6 169954986 169954986 single base substitution G A downstream_gene_variant PACA-CA 6 169954986 169954986 single base substitution G A intron_variant PACA-CA 6 169960770 169960770 single base substitution C T intron_variant PACA-CA 6 169963971 169963971 single base substitution C T intron_variant PACA-CA 6 169969104 169969104 single base substitution C T intron_variant PACA-CA 6 169969524 169969524 single base substitution A G intron_variant PACA-CA 6 169970629 169970629 single base substitution T A intron_variant PACA-CA 6 169977225 169977225 single base substitution C T intron_variant PACA-CA 6 169978151 169978151 single base substitution G A intron_variant PACA-CA 6 169978531 169978531 insertion of <=200bp - T intron_variant PACA-CA 6 169978795 169978795 single base substitution C A intron_variant PACA-CA 6 169978796 169978796 single base substitution G T intron_variant PACA-CA 6 169980644 169980644 single base substitution C A intron_variant PACA-CA 6 169983025 169983025 single base substitution G A exon_variant PACA-CA 6 169983025 169983025 single base substitution G A synonymous_variant Y683Y 2049C>T PACA-CA 6 169983025 169983025 single base substitution G A synonymous_variant Y810Y 2430C>T PACA-CA 6 169985496 169985496 single base substitution T C intron_variant PACA-CA 6 169985560 169985560 single base substitution G A intron_variant PACA-CA 6 169988091 169988091 single base substitution T A intron_variant PACA-CA 6 169989202 169989202 single base substitution T G intron_variant PACA-CA 6 169993601 169993601 insertion of <=200bp - A intron_variant PACA-CA 6 169995057 169995057 single base substitution C G intron_variant PACA-CA 6 169998383 169998383 single base substitution G A intron_variant PACA-CA 6 170000627 170000627 single base substitution G C intron_variant PACA-CA 6 170001746 170001746 single base substitution G T intron_variant PACA-CA 6 170004965 170004965 insertion of <=200bp - A intron_variant PACA-CA 6 170006002 170006002 single base substitution G T intron_variant PACA-CA 6 170006522 170006522 single base substitution C T intron_variant PACA-CA 6 170009749 170009749 single base substitution G A intron_variant PACA-CA 6 170012331 170012331 single base substitution C T intron_variant PACA-CA 6 170013214 170013214 single base substitution A G intron_variant PACA-CA 6 170014777 170014777 single base substitution C T intron_variant PACA-CA 6 170016387 170016387 single base substitution C G intron_variant PACA-CA 6 170023588 170023588 single base substitution G A intron_variant PACA-CA 6 170023918 170023918 single base substitution C T intron_variant PACA-CA 6 170026453 170026453 single base substitution G A intron_variant PACA-CA 6 170031560 170031560 single base substitution C T intron_variant PACA-CA 6 170034417 170034417 single base substitution G A intron_variant PACA-CA 6 170034887 170034887 single base substitution T A intron_variant PACA-CA 6 170035406 170035406 single base substitution G A intron_variant PACA-CA 6 170037806 170037806 single base substitution C T intron_variant PACA-CA 6 170039319 170039319 single base substitution C T intron_variant PACA-CA 6 170041375 170041375 single base substitution G A intron_variant PACA-CA 6 170044627 170044627 single base substitution G A downstream_gene_variant PACA-CA 6 170044627 170044627 single base substitution G A intron_variant PACA-CA 6 170046021 170046021 single base substitution T G downstream_gene_variant PACA-CA 6 170046021 170046021 single base substitution T G intron_variant PACA-CA 6 170046143 170046143 single base substitution A C downstream_gene_variant PACA-CA 6 170046143 170046143 single base substitution A C intron_variant PACA-CA 6 170052349 170052349 single base substitution T C intron_variant PACA-CA 6 170052349 170052349 single base substitution T C upstream_gene_variant PACA-CA 6 170054253 170054253 single base substitution A G downstream_gene_variant PACA-CA 6 170054253 170054253 single base substitution A G intron_variant PACA-CA 6 170054253 170054253 single base substitution A G upstream_gene_variant PACA-CA 6 170055459 170055459 single base substitution C T downstream_gene_variant PACA-CA 6 170055459 170055459 single base substitution C T intron_variant PACA-CA 6 170057214 170057214 single base substitution G A downstream_gene_variant PACA-CA 6 170057214 170057214 single base substitution G A intron_variant PACA-CA 6 170060631 170060631 single base substitution A C downstream_gene_variant PACA-CA 6 170060631 170060631 single base substitution A C intron_variant PACA-CA 6 170060898 170060898 single base substitution A G downstream_gene_variant PACA-CA 6 170060898 170060898 single base substitution A G intron_variant PACA-CA 6 170060898 170060898 single base substitution A G upstream_gene_variant PACA-CA 6 170061034 170061034 single base substitution C T downstream_gene_variant PACA-CA 6 170061034 170061034 single base substitution C T intron_variant PACA-CA 6 170061034 170061034 single base substitution C T upstream_gene_variant PACA-CA 6 170062506 170062506 single base substitution G A 3_prime_UTR_variant PACA-CA 6 170062506 170062506 single base substitution G A downstream_gene_variant PACA-CA 6 170062506 170062506 single base substitution G A exon_variant PACA-CA 6 170062506 170062506 single base substitution G A missense_variant P180S 538C>T PACA-CA 6 170062506 170062506 single base substitution G A missense_variant P307S 919C>T PACA-CA 6 170062506 170062506 single base substitution G A upstream_gene_variant PACA-CA 6 170066405 170066405 single base substitution A G downstream_gene_variant PACA-CA 6 170066405 170066405 single base substitution A G intron_variant PACA-CA 6 170066405 170066405 single base substitution A G upstream_gene_variant PACA-CA 6 170066898 170066898 single base substitution C T downstream_gene_variant PACA-CA 6 170066898 170066898 single base substitution C T intron_variant PACA-CA 6 170066898 170066898 single base substitution C T upstream_gene_variant PACA-CA 6 170067909 170067909 single base substitution G A downstream_gene_variant PACA-CA 6 170067909 170067909 single base substitution G A intron_variant PACA-CA 6 170067909 170067909 single base substitution G A upstream_gene_variant PACA-CA 6 170069870 170069870 single base substitution T C downstream_gene_variant PACA-CA 6 170069870 170069870 single base substitution T C exon_variant PACA-CA 6 170069870 170069870 single base substitution T C intron_variant PACA-CA 6 170069870 170069870 single base substitution T C upstream_gene_variant PACA-CA 6 170073711 170073711 single base substitution A C intron_variant PACA-CA 6 170073711 170073711 single base substitution A C upstream_gene_variant PACA-CA 6 170074495 170074495 single base substitution C A intron_variant PACA-CA 6 170074495 170074495 single base substitution C A upstream_gene_variant PACA-CA 6 170074913 170074913 single base substitution G A intron_variant PACA-CA 6 170074913 170074913 single base substitution G A upstream_gene_variant PACA-CA 6 170076044 170076044 single base substitution C T intron_variant PACA-CA 6 170080893 170080893 single base substitution A T intron_variant PACA-CA 6 170088037 170088037 single base substitution T C intron_variant PACA-CA 6 170089581 170089581 single base substitution G A intron_variant PACA-CA 6 170090463 170090463 single base substitution C A intron_variant PACA-CA 6 170091804 170091804 single base substitution C T intron_variant PACA-CA 6 170093859 170093859 single base substitution G C intron_variant PACA-CA 6 170094356 170094356 single base substitution G A intron_variant PACA-CA 6 170098733 170098733 single base substitution T A intron_variant PACA-CA 6 170102732 170102732 single base substitution G T upstream_gene_variant PAEN-AU 6 169883603 169883603 single base substitution T C intron_variant PAEN-AU 6 169931193 169931193 single base substitution G T intron_variant PAEN-AU 6 169955575 169955575 single base substitution G A downstream_gene_variant PAEN-AU 6 169955575 169955575 single base substitution G A intron_variant PAEN-AU 6 169972633 169972633 single base substitution C A intron_variant PAEN-AU 6 169972633 169972633 single base substitution C A stop_gained E843* 2527G>T PAEN-AU 6 169973153 169973153 single base substitution C G intron_variant PAEN-AU 6 169981411 169981411 single base substitution C A intron_variant PAEN-AU 6 170080305 170080305 single base substitution G T intron_variant PAEN-AU 6 170084227 170084227 single base substitution C T intron_variant PAEN-IT 6 169860681 169860681 single base substitution G A intron_variant PAEN-IT 6 169891420 169891420 single base substitution T C intron_variant PAEN-IT 6 169904108 169904108 single base substitution T C intron_variant PAEN-IT 6 169948521 169948521 single base substitution A G intron_variant PAEN-IT 6 170020074 170020074 single base substitution A C intron_variant PAEN-IT 6 170084897 170084897 single base substitution C T intron_variant PAEN-IT 6 170097216 170097216 single base substitution T A intron_variant PBCA-DE 6 169858358 169858358 single base substitution G A intron_variant PBCA-DE 6 169860574 169860574 insertion of <=200bp - A intron_variant PBCA-DE 6 169861743 169861743 insertion of <=200bp - A intron_variant PBCA-DE 6 169861914 169861914 insertion of <=200bp - A intron_variant PBCA-DE 6 169868233 169868233 single base substitution C T intron_variant PBCA-DE 6 169870698 169870698 single base substitution C T intron_variant PBCA-DE 6 169885816 169885816 single base substitution C T intron_variant PBCA-DE 6 169886818 169886818 single base substitution C G intron_variant PBCA-DE 6 169886895 169886895 deletion of <=200bp T - intron_variant PBCA-DE 6 169892318 169892318 insertion of <=200bp - A intron_variant PBCA-DE 6 169894377 169894377 single base substitution G A intron_variant PBCA-DE 6 169897316 169897316 insertion of <=200bp - T intron_variant PBCA-DE 6 169900817 169900817 single base substitution A G intron_variant PBCA-DE 6 169911906 169911906 single base substitution A T intron_variant PBCA-DE 6 169913744 169913744 single base substitution A G intron_variant PBCA-DE 6 169913794 169913797 deletion of <=200bp TAAT - intron_variant PBCA-DE 6 169914853 169914854 deletion of <=200bp AT - intron_variant PBCA-DE 6 169916884 169916885 deletion of <=200bp AC - intron_variant PBCA-DE 6 169925904 169925904 single base substitution C T intron_variant PBCA-DE 6 169937534 169937534 deletion of <=200bp A - intron_variant PBCA-DE 6 169938800 169938801 deletion of <=200bp AC - intron_variant PBCA-DE 6 169953037 169953037 single base substitution C T intron_variant PBCA-DE 6 169959213 169959213 single base substitution T A exon_variant PBCA-DE 6 169959213 169959213 single base substitution T A intron_variant PBCA-DE 6 169962315 169962315 single base substitution C T intron_variant PBCA-DE 6 169965733 169965733 single base substitution T G intron_variant PBCA-DE 6 169966263 169966263 single base substitution C A intron_variant PBCA-DE 6 169977433 169977433 single base substitution C T intron_variant PBCA-DE 6 170000567 170000567 deletion of <=200bp T - intron_variant PBCA-DE 6 170000921 170000921 single base substitution A G intron_variant PBCA-DE 6 170004966 170004966 insertion of <=200bp - A intron_variant PBCA-DE 6 170010030 170010030 single base substitution C T intron_variant PBCA-DE 6 170015150 170015150 insertion of <=200bp - A intron_variant PBCA-DE 6 170024225 170024225 single base substitution T C intron_variant PBCA-DE 6 170024228 170024228 single base substitution T C intron_variant PBCA-DE 6 170037625 170037626 deletion of <=200bp AT - intron_variant PBCA-DE 6 170037807 170037807 single base substitution G A intron_variant PBCA-DE 6 170040864 170040864 single base substitution C A intron_variant PBCA-DE 6 170043391 170043391 insertion of <=200bp - A downstream_gene_variant PBCA-DE 6 170043391 170043391 insertion of <=200bp - A intron_variant PBCA-DE 6 170054813 170054815 deletion of <=200bp AGA - downstream_gene_variant PBCA-DE 6 170054813 170054815 deletion of <=200bp AGA - intron_variant PBCA-DE 6 170054831 170054831 single base substitution G A downstream_gene_variant PBCA-DE 6 170054831 170054831 single base substitution G A intron_variant PBCA-DE 6 170062963 170062963 insertion of <=200bp - C downstream_gene_variant PBCA-DE 6 170062963 170062963 insertion of <=200bp - C intron_variant PBCA-DE 6 170062963 170062963 insertion of <=200bp - C upstream_gene_variant PBCA-DE 6 170063010 170063010 single base substitution T C downstream_gene_variant PBCA-DE 6 170063010 170063010 single base substitution T C intron_variant PBCA-DE 6 170063010 170063010 single base substitution T C upstream_gene_variant PBCA-DE 6 170065732 170065732 single base substitution C G downstream_gene_variant PBCA-DE 6 170065732 170065732 single base substitution C G intron_variant PBCA-DE 6 170065732 170065732 single base substitution C G upstream_gene_variant PBCA-DE 6 170068601 170068601 single base substitution G A downstream_gene_variant PBCA-DE 6 170068601 170068601 single base substitution G A intron_variant PBCA-DE 6 170068601 170068601 single base substitution G A upstream_gene_variant PBCA-DE 6 170073681 170073681 single base substitution T G intron_variant PBCA-DE 6 170073681 170073681 single base substitution T G upstream_gene_variant PBCA-DE 6 170075339 170075339 single base substitution C T intron_variant PBCA-DE 6 170075339 170075339 single base substitution C T upstream_gene_variant PBCA-DE 6 170082383 170082383 single base substitution C T intron_variant PBCA-DE 6 170092053 170092053 deletion of <=200bp A - intron_variant PBCA-DE 6 170097688 170097688 single base substitution C T intron_variant PBCA-DE 6 170098352 170098352 insertion of <=200bp - TT intron_variant PBCA-DE 6 170098504 170098505 deletion of <=200bp AC - intron_variant PBCA-DE 6 170102063 170102063 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant PBCA-DE 6 170102063 170102063 single base substitution C A upstream_gene_variant PBCA-DE 6 170103506 170103506 single base substitution G A upstream_gene_variant PBCA-DE 6 170106824 170106825 deletion of <=200bp AC - upstream_gene_variant PRAD-CA 6 169889197 169889197 single base substitution G A intron_variant PRAD-CA 6 169897371 169897371 single base substitution C T intron_variant PRAD-CA 6 169930915 169930915 single base substitution T A intron_variant PRAD-CA 6 169955675 169955675 single base substitution T C downstream_gene_variant PRAD-CA 6 169955675 169955675 single base substitution T C intron_variant PRAD-CA 6 169965033 169965033 single base substitution C T intron_variant PRAD-CA 6 169967931 169967931 single base substitution T G intron_variant PRAD-CA 6 169975352 169975352 single base substitution C A intron_variant PRAD-CA 6 170021391 170021391 single base substitution C T intron_variant PRAD-CA 6 170028426 170028426 single base substitution A T intron_variant PRAD-CA 6 170031363 170031363 single base substitution T G intron_variant PRAD-CA 6 170044261 170044261 single base substitution G C downstream_gene_variant PRAD-CA 6 170044261 170044261 single base substitution G C intron_variant PRAD-CA 6 170045469 170045469 single base substitution G A downstream_gene_variant PRAD-CA 6 170045469 170045469 single base substitution G A intron_variant PRAD-CA 6 170045973 170045973 single base substitution A G downstream_gene_variant PRAD-CA 6 170045973 170045973 single base substitution A G intron_variant PRAD-CA 6 170052972 170052972 single base substitution C A downstream_gene_variant PRAD-CA 6 170052972 170052972 single base substitution C A intron_variant PRAD-CA 6 170052972 170052972 single base substitution C A upstream_gene_variant PRAD-CA 6 170060970 170060970 single base substitution T C downstream_gene_variant PRAD-CA 6 170060970 170060970 single base substitution T C intron_variant PRAD-CA 6 170060970 170060970 single base substitution T C upstream_gene_variant PRAD-CA 6 170062288 170062288 single base substitution A G downstream_gene_variant PRAD-CA 6 170062288 170062288 single base substitution A G intron_variant PRAD-CA 6 170062288 170062288 single base substitution A G upstream_gene_variant PRAD-CA 6 170088476 170088476 single base substitution T C intron_variant PRAD-CA 6 170095825 170095825 single base substitution C T intron_variant PRAD-CA 6 170101364 170101364 single base substitution G A intron_variant PRAD-UK 6 169853225 169853225 single base substitution C T downstream_gene_variant PRAD-UK 6 169912286 169912286 single base substitution A G intron_variant PRAD-UK 6 169922041 169922041 deletion of <=200bp A - intron_variant PRAD-UK 6 169936592 169936592 single base substitution A G intron_variant PRAD-UK 6 169951362 169951362 single base substitution A C intron_variant PRAD-UK 6 169956082 169956082 single base substitution G C downstream_gene_variant PRAD-UK 6 169956082 169956082 single base substitution G C intron_variant PRAD-UK 6 169958686 169958686 single base substitution C T exon_variant PRAD-UK 6 169958686 169958686 single base substitution C T intron_variant PRAD-UK 6 169967047 169967047 single base substitution G A intron_variant PRAD-UK 6 169967128 169967128 single base substitution C G intron_variant PRAD-UK 6 169982263 169982263 single base substitution G A intron_variant PRAD-UK 6 169982459 169982459 single base substitution C T intron_variant PRAD-UK 6 169986897 169986897 single base substitution A G intron_variant PRAD-UK 6 170005205 170005205 insertion of <=200bp - AAAAAAAAA intron_variant PRAD-UK 6 170016584 170016584 insertion of <=200bp - A intron_variant PRAD-UK 6 170017646 170017646 single base substitution A T intron_variant PRAD-UK 6 170039215 170039215 single base substitution G C intron_variant PRAD-UK 6 170051095 170051095 single base substitution G C intron_variant PRAD-UK 6 170051095 170051095 single base substitution G C upstream_gene_variant PRAD-UK 6 170060307 170060307 single base substitution G T downstream_gene_variant PRAD-UK 6 170060307 170060307 single base substitution G T intron_variant PRAD-UK 6 170061195 170061195 single base substitution C A downstream_gene_variant PRAD-UK 6 170061195 170061195 single base substitution C A intron_variant PRAD-UK 6 170061195 170061195 single base substitution C A upstream_gene_variant PRAD-UK 6 170075360 170075360 single base substitution T A intron_variant PRAD-UK 6 170075360 170075360 single base substitution T A upstream_gene_variant PRAD-UK 6 170078118 170078118 single base substitution C G intron_variant PRAD-UK 6 170078939 170078939 single base substitution A C intron_variant READ-US 6 170068129 170068129 single base substitution A G downstream_gene_variant READ-US 6 170068129 170068129 single base substitution A G exon_variant READ-US 6 170068129 170068129 single base substitution A G intron_variant READ-US 6 170068129 170068129 single base substitution A G synonymous_variant C203C 609T>C READ-US 6 170068129 170068129 single base substitution A G upstream_gene_variant READ-US 6 170104189 170104189 insertion of <=200bp - A upstream_gene_variant RECA-EU 6 169854792 169854792 single base substitution G A downstream_gene_variant RECA-EU 6 169868933 169868933 single base substitution A C intron_variant RECA-EU 6 169874811 169874811 single base substitution A C intron_variant RECA-EU 6 169876468 169876468 single base substitution G T intron_variant RECA-EU 6 169880050 169880050 single base substitution G C intron_variant RECA-EU 6 169891334 169891334 single base substitution T C intron_variant RECA-EU 6 169902144 169902144 single base substitution C T intron_variant RECA-EU 6 169915356 169915356 single base substitution G C intron_variant RECA-EU 6 169917007 169917007 single base substitution A C intron_variant RECA-EU 6 169924347 169924347 single base substitution A T intron_variant RECA-EU 6 169927147 169927147 single base substitution T A intron_variant RECA-EU 6 169941174 169941174 single base substitution C T intron_variant RECA-EU 6 169946387 169946387 single base substitution A T intron_variant RECA-EU 6 169946388 169946388 single base substitution C A intron_variant RECA-EU 6 169947684 169947684 single base substitution C T intron_variant RECA-EU 6 169950674 169950674 single base substitution C T intron_variant RECA-EU 6 169955870 169955870 single base substitution T G downstream_gene_variant RECA-EU 6 169955870 169955870 single base substitution T G intron_variant RECA-EU 6 169971304 169971304 single base substitution T A intron_variant RECA-EU 6 169975263 169975263 single base substitution T A intron_variant RECA-EU 6 169981276 169981276 single base substitution C T intron_variant RECA-EU 6 169984538 169984538 single base substitution G A intron_variant RECA-EU 6 169987435 169987435 single base substitution C T intron_variant RECA-EU 6 169988597 169988597 single base substitution T C intron_variant RECA-EU 6 169989063 169989063 single base substitution T G intron_variant RECA-EU 6 169990152 169990152 single base substitution A T intron_variant RECA-EU 6 170000400 170000400 single base substitution C A intron_variant RECA-EU 6 170001735 170001735 single base substitution A C intron_variant RECA-EU 6 170006041 170006041 single base substitution C A intron_variant RECA-EU 6 170007917 170007917 single base substitution T C intron_variant RECA-EU 6 170010896 170010896 single base substitution A G intron_variant RECA-EU 6 170015723 170015723 single base substitution T G intron_variant RECA-EU 6 170031482 170031482 single base substitution T A intron_variant RECA-EU 6 170036971 170036971 single base substitution C T intron_variant RECA-EU 6 170055089 170055089 single base substitution C G downstream_gene_variant RECA-EU 6 170055089 170055089 single base substitution C G intron_variant RECA-EU 6 170062546 170062546 single base substitution A G downstream_gene_variant RECA-EU 6 170062546 170062546 single base substitution A G intron_variant RECA-EU 6 170062546 170062546 single base substitution A G upstream_gene_variant RECA-EU 6 170072246 170072246 single base substitution C A downstream_gene_variant RECA-EU 6 170072246 170072246 single base substitution C A exon_variant RECA-EU 6 170072246 170072246 single base substitution C A intron_variant RECA-EU 6 170072246 170072246 single base substitution C A upstream_gene_variant RECA-EU 6 170074401 170074401 single base substitution A T intron_variant RECA-EU 6 170074401 170074401 single base substitution A T upstream_gene_variant RECA-EU 6 170074710 170074710 single base substitution A G intron_variant RECA-EU 6 170074710 170074710 single base substitution A G upstream_gene_variant RECA-EU 6 170076274 170076274 single base substitution C T intron_variant RECA-EU 6 170101933 170101933 single base substitution C G 5_prime_UTR_variant RECA-EU 6 170101933 170101933 single base substitution C G upstream_gene_variant SKCA-BR 6 169855185 169855185 single base substitution C T downstream_gene_variant SKCA-BR 6 169858330 169858330 single base substitution C T intron_variant SKCA-BR 6 169861742 169861742 insertion of <=200bp - TAA intron_variant SKCA-BR 6 169862574 169862574 single base substitution G A intron_variant SKCA-BR 6 169864285 169864285 single base substitution G A intron_variant SKCA-BR 6 169865031 169865031 single base substitution A G intron_variant SKCA-BR 6 169865046 169865046 single base substitution C T intron_variant SKCA-BR 6 169865353 169865356 deletion of <=200bp CAAA - intron_variant SKCA-BR 6 169871760 169871760 single base substitution G A intron_variant SKCA-BR 6 169875335 169875335 single base substitution G A intron_variant SKCA-BR 6 169878249 169878249 single base substitution C T intron_variant SKCA-BR 6 169880412 169880412 single base substitution A C intron_variant SKCA-BR 6 169880689 169880689 single base substitution G A intron_variant SKCA-BR 6 169882950 169882950 single base substitution A C intron_variant SKCA-BR 6 169886743 169886743 single base substitution C T intron_variant SKCA-BR 6 169887202 169887202 single base substitution G A intron_variant SKCA-BR 6 169890300 169890300 single base substitution G A intron_variant SKCA-BR 6 169892892 169892892 single base substitution C G intron_variant SKCA-BR 6 169895528 169895528 single base substitution G A intron_variant SKCA-BR 6 169897935 169897935 single base substitution G A intron_variant SKCA-BR 6 169899860 169899860 single base substitution C T intron_variant SKCA-BR 6 169900071 169900071 single base substitution G A intron_variant SKCA-BR 6 169903230 169903230 single base substitution G A intron_variant SKCA-BR 6 169904249 169904249 single base substitution G A intron_variant SKCA-BR 6 169909517 169909517 single base substitution G C intron_variant SKCA-BR 6 169911232 169911232 single base substitution A G intron_variant SKCA-BR 6 169913652 169913652 single base substitution G A intron_variant SKCA-BR 6 169913793 169913797 deletion of <=200bp GTAAT - intron_variant SKCA-BR 6 169915900 169915900 single base substitution G A intron_variant SKCA-BR 6 169916566 169916566 single base substitution G C intron_variant SKCA-BR 6 169918562 169918562 single base substitution G T intron_variant SKCA-BR 6 169919786 169919786 single base substitution G A intron_variant SKCA-BR 6 169922492 169922492 single base substitution C T intron_variant SKCA-BR 6 169922917 169922917 single base substitution G A intron_variant SKCA-BR 6 169924075 169924075 single base substitution G A intron_variant SKCA-BR 6 169925260 169925260 single base substitution G A intron_variant SKCA-BR 6 169925630 169925630 insertion of <=200bp - CA intron_variant SKCA-BR 6 169925980 169925980 single base substitution A C intron_variant SKCA-BR 6 169928515 169928515 single base substitution G A intron_variant SKCA-BR 6 169930238 169930238 single base substitution G A intron_variant SKCA-BR 6 169930759 169930759 single base substitution T G intron_variant SKCA-BR 6 169933652 169933652 single base substitution T C intron_variant SKCA-BR 6 169937241 169937241 single base substitution T C intron_variant SKCA-BR 6 169938133 169938133 single base substitution T G intron_variant SKCA-BR 6 169938139 169938139 single base substitution T G intron_variant SKCA-BR 6 169939835 169939835 single base substitution C T intron_variant SKCA-BR 6 169939836 169939836 single base substitution C T intron_variant SKCA-BR 6 169940857 169940857 single base substitution C T intron_variant SKCA-BR 6 169944915 169944915 single base substitution G A intron_variant SKCA-BR 6 169948900 169948900 single base substitution T G intron_variant SKCA-BR 6 169951847 169951852 deletion of <=200bp AAAAAG - intron_variant SKCA-BR 6 169953841 169953841 single base substitution C G downstream_gene_variant SKCA-BR 6 169953841 169953841 single base substitution C G intron_variant SKCA-BR 6 169959825 169959825 single base substitution A C exon_variant SKCA-BR 6 169959825 169959825 single base substitution A C intron_variant SKCA-BR 6 169962239 169962239 single base substitution A C intron_variant SKCA-BR 6 169962765 169962765 single base substitution G A intron_variant SKCA-BR 6 169963931 169963931 single base substitution C A intron_variant SKCA-BR 6 169966473 169966473 single base substitution A C intron_variant SKCA-BR 6 169966479 169966479 single base substitution C A intron_variant SKCA-BR 6 169966482 169966482 single base substitution A G intron_variant SKCA-BR 6 169966722 169966722 single base substitution G A intron_variant SKCA-BR 6 169967750 169967750 single base substitution C T intron_variant SKCA-BR 6 169968149 169968149 single base substitution G A intron_variant SKCA-BR 6 169970264 169970264 single base substitution T C intron_variant SKCA-BR 6 169970389 169970389 single base substitution G A intron_variant SKCA-BR 6 169974499 169974499 single base substitution G A intron_variant SKCA-BR 6 169977182 169977182 insertion of <=200bp - GAAAA intron_variant SKCA-BR 6 169980196 169980196 single base substitution G A intron_variant SKCA-BR 6 169982094 169982094 single base substitution G A intron_variant SKCA-BR 6 169983385 169983385 single base substitution C T intron_variant SKCA-BR 6 169983397 169983397 single base substitution G A intron_variant SKCA-BR 6 169983613 169983613 single base substitution A G intron_variant SKCA-BR 6 169984135 169984135 single base substitution G A intron_variant SKCA-BR 6 169984154 169984154 single base substitution T C intron_variant SKCA-BR 6 169984877 169984877 single base substitution A T intron_variant SKCA-BR 6 169985193 169985193 single base substitution G A intron_variant SKCA-BR 6 169985294 169985294 single base substitution G A intron_variant SKCA-BR 6 169988337 169988337 single base substitution T G intron_variant SKCA-BR 6 169990250 169990250 single base substitution A G intron_variant SKCA-BR 6 169990692 169990692 single base substitution G A intron_variant SKCA-BR 6 169990947 169990947 single base substitution T C intron_variant SKCA-BR 6 169993975 169993975 insertion of <=200bp - AC intron_variant SKCA-BR 6 169997973 169997977 deletion of <=200bp TACAC - intron_variant SKCA-BR 6 170000726 170000726 single base substitution G A intron_variant SKCA-BR 6 170002346 170002346 single base substitution C T exon_variant SKCA-BR 6 170002346 170002346 single base substitution C T missense_variant R671Q 2012G>A SKCA-BR 6 170002346 170002346 single base substitution C T missense_variant R798Q 2393G>A SKCA-BR 6 170003247 170003248 deletion of <=200bp CT - intron_variant SKCA-BR 6 170004816 170004816 single base substitution C T intron_variant SKCA-BR 6 170007734 170007734 single base substitution G T intron_variant SKCA-BR 6 170009385 170009385 single base substitution G A intron_variant SKCA-BR 6 170019123 170019123 single base substitution A C intron_variant SKCA-BR 6 170024179 170024179 single base substitution T A intron_variant SKCA-BR 6 170026081 170026081 single base substitution G A intron_variant SKCA-BR 6 170026121 170026121 single base substitution G A intron_variant SKCA-BR 6 170028108 170028108 single base substitution G A intron_variant SKCA-BR 6 170028231 170028231 single base substitution G A intron_variant SKCA-BR 6 170028307 170028307 single base substitution C G intron_variant SKCA-BR 6 170031504 170031504 single base substitution A T intron_variant SKCA-BR 6 170031774 170031774 single base substitution C T intron_variant SKCA-BR 6 170033380 170033380 single base substitution G A intron_variant SKCA-BR 6 170035577 170035577 single base substitution C T intron_variant SKCA-BR 6 170037489 170037489 single base substitution G A intron_variant SKCA-BR 6 170039567 170039567 single base substitution A G intron_variant SKCA-BR 6 170040439 170040439 single base substitution G A intron_variant SKCA-BR 6 170042406 170042406 single base substitution G C intron_variant SKCA-BR 6 170044025 170044025 single base substitution A G downstream_gene_variant SKCA-BR 6 170044025 170044025 single base substitution A G intron_variant SKCA-BR 6 170044261 170044261 single base substitution G C downstream_gene_variant SKCA-BR 6 170044261 170044261 single base substitution G C intron_variant SKCA-BR 6 170044320 170044320 single base substitution A T downstream_gene_variant SKCA-BR 6 170044320 170044320 single base substitution A T intron_variant SKCA-BR 6 170045155 170045155 single base substitution G A downstream_gene_variant SKCA-BR 6 170045155 170045155 single base substitution G A intron_variant SKCA-BR 6 170045450 170045450 single base substitution C A downstream_gene_variant SKCA-BR 6 170045450 170045450 single base substitution C A intron_variant SKCA-BR 6 170046867 170046867 single base substitution A T downstream_gene_variant SKCA-BR 6 170046867 170046867 single base substitution A T intron_variant SKCA-BR 6 170047915 170047915 single base substitution G A exon_variant SKCA-BR 6 170047915 170047915 single base substitution G A synonymous_variant V170V 510C>T SKCA-BR 6 170047915 170047915 single base substitution G A synonymous_variant V410V 1230C>T SKCA-BR 6 170047915 170047915 single base substitution G A synonymous_variant V537V 1611C>T SKCA-BR 6 170048158 170048158 single base substitution G A intron_variant SKCA-BR 6 170052586 170052586 single base substitution A C intron_variant SKCA-BR 6 170052586 170052586 single base substitution A C upstream_gene_variant SKCA-BR 6 170057163 170057163 single base substitution G A downstream_gene_variant SKCA-BR 6 170057163 170057163 single base substitution G A intron_variant SKCA-BR 6 170057207 170057207 single base substitution A C downstream_gene_variant SKCA-BR 6 170057207 170057207 single base substitution A C intron_variant SKCA-BR 6 170057329 170057329 single base substitution C A downstream_gene_variant SKCA-BR 6 170057329 170057329 single base substitution C A intron_variant SKCA-BR 6 170058206 170058206 single base substitution G A downstream_gene_variant SKCA-BR 6 170058206 170058206 single base substitution G A intron_variant SKCA-BR 6 170060294 170060294 single base substitution A G downstream_gene_variant SKCA-BR 6 170060294 170060294 single base substitution A G intron_variant SKCA-BR 6 170060333 170060333 single base substitution A G downstream_gene_variant SKCA-BR 6 170060333 170060333 single base substitution A G intron_variant SKCA-BR 6 170060970 170060970 single base substitution T C downstream_gene_variant SKCA-BR 6 170060970 170060970 single base substitution T C intron_variant SKCA-BR 6 170060970 170060970 single base substitution T C upstream_gene_variant SKCA-BR 6 170061062 170061062 single base substitution T C downstream_gene_variant SKCA-BR 6 170061062 170061062 single base substitution T C intron_variant SKCA-BR 6 170061062 170061062 single base substitution T C upstream_gene_variant SKCA-BR 6 170062691 170062691 single base substitution A G downstream_gene_variant SKCA-BR 6 170062691 170062691 single base substitution A G intron_variant SKCA-BR 6 170062691 170062691 single base substitution A G upstream_gene_variant SKCA-BR 6 170062913 170062913 single base substitution G A downstream_gene_variant SKCA-BR 6 170062913 170062913 single base substitution G A intron_variant SKCA-BR 6 170062913 170062913 single base substitution G A upstream_gene_variant SKCA-BR 6 170063042 170063042 single base substitution G A downstream_gene_variant SKCA-BR 6 170063042 170063042 single base substitution G A intron_variant SKCA-BR 6 170063042 170063042 single base substitution G A upstream_gene_variant SKCA-BR 6 170063210 170063210 single base substitution C T downstream_gene_variant SKCA-BR 6 170063210 170063210 single base substitution C T intron_variant SKCA-BR 6 170063210 170063210 single base substitution C T upstream_gene_variant SKCA-BR 6 170063704 170063704 single base substitution G T 3_prime_UTR_variant SKCA-BR 6 170063704 170063704 single base substitution G T downstream_gene_variant SKCA-BR 6 170063704 170063704 single base substitution G T exon_variant SKCA-BR 6 170063704 170063704 single base substitution G T intron_variant SKCA-BR 6 170063704 170063704 single base substitution G T upstream_gene_variant SKCA-BR 6 170064776 170064776 single base substitution A G downstream_gene_variant SKCA-BR 6 170064776 170064776 single base substitution A G exon_variant SKCA-BR 6 170064776 170064776 single base substitution A G intron_variant SKCA-BR 6 170064776 170064776 single base substitution A G upstream_gene_variant SKCA-BR 6 170067022 170067022 single base substitution C G downstream_gene_variant SKCA-BR 6 170067022 170067022 single base substitution C G intron_variant SKCA-BR 6 170067022 170067022 single base substitution C G upstream_gene_variant SKCA-BR 6 170071663 170071663 single base substitution C T downstream_gene_variant SKCA-BR 6 170071663 170071663 single base substitution C T exon_variant SKCA-BR 6 170071663 170071663 single base substitution C T intron_variant SKCA-BR 6 170071663 170071663 single base substitution C T upstream_gene_variant SKCA-BR 6 170074958 170074958 single base substitution T G intron_variant SKCA-BR 6 170074958 170074958 single base substitution T G upstream_gene_variant SKCA-BR 6 170077323 170077323 single base substitution G A intron_variant SKCA-BR 6 170084232 170084232 single base substitution G A intron_variant SKCA-BR 6 170084423 170084423 single base substitution G A intron_variant SKCA-BR 6 170087096 170087096 single base substitution A G intron_variant SKCA-BR 6 170090112 170090112 single base substitution A G intron_variant SKCA-BR 6 170090213 170090213 single base substitution A C intron_variant SKCA-BR 6 170090281 170090281 single base substitution A G intron_variant SKCA-BR 6 170090424 170090424 single base substitution A C intron_variant SKCA-BR 6 170092425 170092425 single base substitution G A intron_variant SKCA-BR 6 170094433 170094433 single base substitution A G intron_variant SKCA-BR 6 170095755 170095755 single base substitution G A intron_variant SKCA-BR 6 170096781 170096781 single base substitution C T intron_variant SKCA-BR 6 170096947 170096947 single base substitution T G intron_variant SKCA-BR 6 170103001 170103001 single base substitution A C upstream_gene_variant SKCA-BR 6 170103363 170103363 single base substitution T C upstream_gene_variant SKCA-BR 6 170105838 170105838 single base substitution G A upstream_gene_variant SKCA-BR 6 170106429 170106429 single base substitution C T upstream_gene_variant SKCM-US 6 170002355 170002355 single base substitution G A exon_variant SKCM-US 6 170002355 170002355 single base substitution G A missense_variant P668L 2003C>T SKCM-US 6 170002355 170002355 single base substitution G A missense_variant P795L 2384C>T SKCM-US 6 170013713 170013713 single base substitution G A exon_variant SKCM-US 6 170013713 170013713 single base substitution G A missense_variant L628F 1882C>T SKCM-US 6 170013713 170013713 single base substitution G A missense_variant L755F 2263C>T SKCM-US 6 170033160 170033160 single base substitution G A exon_variant SKCM-US 6 170033160 170033160 single base substitution G A synonymous_variant I575I 1725C>T SKCM-US 6 170033160 170033160 single base substitution G A synonymous_variant I702I 2106C>T SKCM-US 6 170059297 170059297 single base substitution A C downstream_gene_variant SKCM-US 6 170059297 170059297 single base substitution A C exon_variant SKCM-US 6 170059297 170059297 single base substitution A C missense_variant C275G 823T>G SKCM-US 6 170059297 170059297 single base substitution A C missense_variant C35G 103T>G SKCM-US 6 170059297 170059297 single base substitution A C missense_variant C402G 1204T>G SKCM-US 6 170062419 170062419 single base substitution G A 3_prime_UTR_variant SKCM-US 6 170062419 170062419 single base substitution G A downstream_gene_variant SKCM-US 6 170062419 170062419 single base substitution G A exon_variant SKCM-US 6 170062419 170062419 single base substitution G A missense_variant P209S 625C>T SKCM-US 6 170062419 170062419 single base substitution G A missense_variant P336S 1006C>T SKCM-US 6 170062419 170062419 single base substitution G A upstream_gene_variant SKCM-US 6 170068224 170068224 single base substitution G A downstream_gene_variant SKCM-US 6 170068224 170068224 single base substitution G A intron_variant SKCM-US 6 170068224 170068224 single base substitution G A missense_variant P172S 514C>T SKCM-US 6 170068224 170068224 single base substitution G A upstream_gene_variant SKCM-US 6 170072375 170072375 single base substitution C T downstream_gene_variant SKCM-US 6 170072375 170072375 single base substitution C T exon_variant SKCM-US 6 170072375 170072375 single base substitution C T missense_variant E103K 307G>A SKCM-US 6 170072375 170072375 single base substitution C T upstream_gene_variant SKCM-US 6 170072476 170072476 single base substitution C T exon_variant SKCM-US 6 170072476 170072476 single base substitution C T missense_variant G69E 206G>A SKCM-US 6 170072476 170072476 single base substitution C T upstream_gene_variant STAD-US 6 170036601 170036601 single base substitution C G intron_variant STAD-US 6 170036601 170036601 single base substitution C G splice_acceptor_variant STAD-US 6 170059238 170059238 single base substitution C T downstream_gene_variant STAD-US 6 170059238 170059238 single base substitution C T exon_variant STAD-US 6 170059238 170059238 single base substitution C T synonymous_variant A294A 882G>A STAD-US 6 170059238 170059238 single base substitution C T synonymous_variant A421A 1263G>A STAD-US 6 170059238 170059238 single base substitution C T synonymous_variant A54A 162G>A STAD-US 6 170059556 170059556 single base substitution C A downstream_gene_variant STAD-US 6 170059556 170059556 single base substitution C A exon_variant STAD-US 6 170059556 170059556 single base substitution C A synonymous_variant A269A 807G>T STAD-US 6 170059556 170059556 single base substitution C A synonymous_variant A29A 87G>T STAD-US 6 170059556 170059556 single base substitution C A synonymous_variant A396A 1188G>T STAD-US 6 170068234 170068234 single base substitution G A downstream_gene_variant STAD-US 6 170068234 170068234 single base substitution G A intron_variant STAD-US 6 170068234 170068234 single base substitution G A synonymous_variant R168R 504C>T STAD-US 6 170068234 170068234 single base substitution G A upstream_gene_variant STAD-US 6 170089045 170089045 single base substitution A T exon_variant STAD-US 6 170089045 170089045 single base substitution A T synonymous_variant V19V 57T>A STAD-US 6 170102881 170102881 single base substitution A G upstream_gene_variant STAD-US 6 170104148 170104148 deletion of <=200bp G - upstream_gene_variant STAD-US 6 170105268 170105268 deletion of <=200bp A - upstream_gene_variant THCA-SA 6 170060808 170060808 single base substitution G A 3_prime_UTR_variant THCA-SA 6 170060808 170060808 single base substitution G A downstream_gene_variant THCA-SA 6 170060808 170060808 single base substitution G A exon_variant THCA-SA 6 170060808 170060808 single base substitution G A synonymous_variant F233F 699C>T THCA-SA 6 170060808 170060808 single base substitution G A synonymous_variant F360F 1080C>T THCA-SA 6 170060808 170060808 single base substitution G A upstream_gene_variant UCEC-US 6 169982939 169982939 single base substitution G A exon_variant UCEC-US 6 169982939 169982939 single base substitution G A missense_variant A712V 2135C>T UCEC-US 6 169982939 169982939 single base substitution G A missense_variant A839V 2516C>T UCEC-US 6 170002355 170002355 single base substitution G T exon_variant UCEC-US 6 170002355 170002355 single base substitution G T missense_variant P668H 2003C>A UCEC-US 6 170002355 170002355 single base substitution G T missense_variant P795H 2384C>A UCEC-US 6 170038633 170038633 single base substitution A G splice_donor_variant UCEC-US 6 170058393 170058393 single base substitution C T downstream_gene_variant UCEC-US 6 170058393 170058393 single base substitution C T exon_variant UCEC-US 6 170058393 170058393 single base substitution C T missense_variant A334T 1000G>A UCEC-US 6 170058393 170058393 single base substitution C T missense_variant A461T 1381G>A UCEC-US 6 170058393 170058393 single base substitution C T missense_variant A94T 280G>A UCEC-US 6 170060807 170060807 single base substitution C T 3_prime_UTR_variant UCEC-US 6 170060807 170060807 single base substitution C T downstream_gene_variant UCEC-US 6 170060807 170060807 single base substitution C T exon_variant UCEC-US 6 170060807 170060807 single base substitution C T missense_variant V234I 700G>A UCEC-US 6 170060807 170060807 single base substitution C T missense_variant V361I 1081G>A UCEC-US 6 170060807 170060807 single base substitution C T upstream_gene_variant UCEC-US 6 170064343 170064343 single base substitution G A 3_prime_UTR_variant UCEC-US 6 170064343 170064343 single base substitution G A downstream_gene_variant UCEC-US 6 170064343 170064343 single base substitution G A exon_variant UCEC-US 6 170064343 170064343 single base substitution G A missense_variant R148C 442C>T UCEC-US 6 170064343 170064343 single base substitution G A missense_variant R275C 823C>T UCEC-US 6 170064343 170064343 single base substitution G A upstream_gene_variant UCEC-US 6 170068256 170068256 single base substitution T G downstream_gene_variant UCEC-US 6 170068256 170068256 single base substitution T G intron_variant UCEC-US 6 170068256 170068256 single base substitution T G missense_variant E161A 482A>C UCEC-US 6 170068256 170068256 single base substitution T G upstream_gene_variant UCEC-US 6 170102682 170102682 single base substitution C T upstream_gene_variant UCEC-US 6 170104123 170104123 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SNU-C4 COSM2855390 c.742G>T p.A248S Substitution - Missense 6:169665527-169665527 - TCGA-A3-3363-01 COSM1496246 c.416C>T p.A139V Substitution - Missense 6:169670609-169670609 - AOCS-166-1-2 COSM4149278 c.2412C>T p.A804A Substitution - coding silent 6:169602231-169602231 - TCGA-FS-A4F9-06 COSM2855292 c.2106C>T p.I702I Substitution - coding silent 6:169633064-169633064 - RH18C COSM3761673 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - LC_S15 COSM1187229 c.84G>T p.K28N Substitution - Missense 6:169688922-169688922 - OSCC-GB_00060111 COSM3715443 c.887G>T p.G296V Substitution - Missense 6:169664183-169664183 - CSCC-10-T COSM2855262 c.2398G>A p.A800T Substitution - Missense 6:169602245-169602245 - LOVO COSM4645560 c.1709T>G p.F570C Substitution - Missense 6:169643735-169643735 - RMS111_ COSM4987551 c.2027A>G p.K676R Substitution - Missense 6:169634502-169634502 - TCGA-D1-A174-01 COSM1076139 c.1381G>A p.A461T Substitution - Missense 6:169658297-169658297 - CRC-37T COSM5479706 c.1319+2T>G p.? Unknown 6:169659084-169659084 - TCGA-HT-7607-01 COSM3928236 c.1460C>T p.S487F Substitution - Missense 6:169651951-169651951 - 8067246 COSM2855384 c.765C>T p.T255T Substitution - coding silent 6:169665504-169665504 - LC_C9 COSM1187224 c.752G>T p.R251M Substitution - Missense 6:169665517-169665517 - TCGA-AU-6004-01 COSM1442311 c.2400G>A p.A800A Substitution - coding silent 6:169602243-169602243 - CHC205T COSM4006208 c.1458A>G p.S486S Substitution - coding silent 6:169651953-169651953 - C086 COSM2855276 c.2268C>T p.F756F Substitution - coding silent 6:169613612-169613612 - RMS88_ COSM3761673 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - TCGA-AG-A002-01 COSM264688 c.915G>A p.Q305Q Substitution - coding silent 6:169662414-169662414 - PCSI_0121_Pa_P COSM3381525 c.919C>T p.P307S Substitution - Missense 6:169662410-169662410 - TCGA-AP-A056-01 COSM1076144 c.482A>C p.E161A Substitution - Missense 6:169668160-169668160 - BD114T COSM5503197 c.1870-1G>A p.? Unknown 6:169636505-169636505 - CSCC-44-T COSM4563105 c.958G>A p.V320I Substitution - Missense 6:169662371-169662371 - ESCC-005T COSM3941641 c.2383C>G p.P795A Substitution - Missense 6:169602260-169602260 - BD114T COSM5503195 c.1870G>A p.G624S Substitution - Missense 6:169636504-169636504 - TCGA-ED-A7XP-01 COSM4913434 c.2194C>T p.R732W Substitution - Missense 6:169632976-169632976 - SNU-175 COSM2855268 c.2329C>T p.R777C Substitution - Missense 6:169602314-169602314 - 2492701 COSM5716182 c.473C>A p.T158K Substitution - Missense 6:169668169-169668169 - HCC27 COSM3662295 c.522G>A p.P174P Substitution - coding silent 6:169668120-169668120 - Patient_2_Relapse COSM2855312 c.1801C>G p.L601V Substitution - Missense 6:169638607-169638607 - 1N61-VS-1T61 COSM4977795 c.1558C>T p.R520W Substitution - Missense 6:169649199-169649199 - 2334187 COSM324288 c.1397G>T p.R466L Substitution - Missense 6:169658281-169658281 - SNUH_G45_S1 COSM4003799 c.652G>A p.G218S Substitution - Missense 6:169667990-169667990 - TCGA-FV-A4ZQ-01 COSM4921929 c.756G>T p.Q252H Substitution - Missense 6:169665513-169665513 - DLD1 COSM2855384 c.765C>T p.T255T Substitution - coding silent 6:169665504-169665504 - PT33 COSM5908707 c.2363C>T p.P788L Substitution - Missense 6:169602280-169602280 - TCGA-FV-A4ZQ-01 COSM4921931 c.756G>T p.Q252H Substitution - Missense 6:169665513-169665513 - 4_RESISTANT COSM1724700 c.502_503insC p.R168fs*48 Insertion - Frameshift 6:169668139-169668140 - TCGA-DI-A0WH-01 COSM1076149 c.476A>G p.Y159C Substitution - Missense 6:169668166-169668166 - U2940 COSM5622166 c.2018G>A p.S673N Substitution - Missense 6:169634511-169634511 - TCGA-BG-A18B-01 COSM1076135 c.2193A>G p.S731S Substitution - coding silent 6:169632977-169632977 - TCGA-EE-A2MR-06 COSM3622971 c.1204T>G p.C402G Substitution - Missense 6:169659201-169659201 - RMS88_ COSM3761675 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - LIM1215 COSM4639553 c.2430C>T p.Y810Y Substitution - coding silent 6:169582929-169582929 - SCMC_RM2_ COSM3761675 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - RMS110_ COSM3761675 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - CSCC-45-T COSM4558288 c.760G>A p.V254I Substitution - Missense 6:169665509-169665509 - TCGA-BR-6563-01 COSM3860519 c.504C>T p.R168R Substitution - coding silent 6:169668138-169668138 - CSCC-49-T COSM4449000 c.1559+1G>A p.? Unknown 6:169649197-169649197 - TCGA-CG-5726-01 COSM3860517 c.1188G>T p.A396A Substitution - coding silent 6:169659460-169659460 - LC_S15 COSM1187227 c.84G>T p.K28N Substitution - Missense 6:169688922-169688922 - CSCC-18-T COSM4526676 c.1410G>A p.R470R Substitution - coding silent 6:169652001-169652001 - 2334191 COSM324290 c.2243A>T p.Q748L Substitution - Missense 6:169613637-169613637 - TCGA-A2-A0T5-01 COSM3829698 c.578A>C p.H193P Substitution - Missense 6:169668064-169668064 - ESO-0059 COSM1270384 c.683C>T p.S228L Substitution - Missense 6:169667165-169667165 - 2492726 COSM5724806 c.1832T>G p.M611R Substitution - Missense 6:169638576-169638576 - TCGA-AP-A056-01 COSM1076146 c.482A>C p.E161A Substitution - Missense 6:169668160-169668160 - sysucc-731T COSM2855406 c.587C>T p.P196L Substitution - Missense 6:169668055-169668055 - HX33T COSM3662295 c.522G>A p.P174P Substitution - coding silent 6:169668120-169668120 - CSCC-31-T COSM4473061 c.1825C>T p.L609L Substitution - coding silent 6:169638583-169638583 - RH30SJ_ COSM3761673 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - 2497781 COSM5750905 c.2182G>C p.E728Q Substitution - Missense 6:169632988-169632988 - CSCC-47-T COSM4463831 c.1307C>T p.S436L Substitution - Missense 6:169659098-169659098 - ESCC_143 COSM5644411 c.2392C>T p.R798* Substitution - Nonsense 6:169602251-169602251 - RMS105_ COSM3761675 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - TCGA-HU-A4H8-01 COSM3860524 c.57T>A p.V19V Substitution - coding silent 6:169688949-169688949 - HCC27T COSM3662295 c.522G>A p.P174P Substitution - coding silent 6:169668120-169668120 - BN05T COSM1621213 c.887G>C p.G296A Substitution - Missense 6:169664183-169664183 - TCGA-D8-A1JM-01 COSM1487478 c.412G>T p.V138F Substitution - Missense 6:169670613-169670613 - 2334202 COSM324293 c.231G>T p.M77I Substitution - Missense 6:169672355-169672355 - RMS85_ COSM3761673 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - TCGA-BT-A20X-01 COSM1311821 c.565G>A p.E189K Substitution - Missense 6:169668077-169668077 - TCGA-D3-A51G-06 COSM3622975 c.307G>A p.E103K Substitution - Missense 6:169672279-169672279 - SNUH_G10_S1 COSM2855368 c.844A>G p.R282G Substitution - Missense 6:169664226-169664226 - Pat_24_B COSM5869784 c.1163C>T p.S388L Substitution - Missense 6:169659485-169659485 - RK184_C01 COSM1634644 c.273A>G p.A91A Substitution - coding silent 6:169672313-169672313 - C391 COSM2855412 c.502C>T p.R168C Substitution - Missense 6:169668140-169668140 - 3844_T COSM3948805 c.424G>T p.A142S Substitution - Missense 6:169670601-169670601 - CSCC-62-T COSM4479813 c.2362C>T p.P788S Substitution - Missense 6:169602281-169602281 - RMS85_ COSM3761675 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - GHE0645 COSM5714698 c.396C>A p.S132R Substitution - Missense 6:169670629-169670629 - NCHP_DIPG108 COSM4746382 c.1705G>A p.V569I Substitution - Missense 6:169643739-169643739 - TCGA-61-2008-01 COSM3375346 c.1130-2A>C p.? Unknown 6:169659520-169659520 - YULAD COSM5404829 c.112T>C p.C38R Substitution - Missense 6:169688894-169688894 - RH18C COSM3761675 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - TCGA-A3-3363-01 COSM1496248 c.416C>T p.A139V Substitution - Missense 6:169670609-169670609 - TCGA-FD-A3NA-01 COSM1311817 c.2231C>T p.S744L Substitution - Missense 6:169613649-169613649 - ME044T COSM229037 c.521C>G p.P174R Substitution - Missense 6:169668121-169668121 - TCGA-D8-A1JM-01 COSM1487476 c.412G>T p.V138F Substitution - Missense 6:169670613-169670613 - BN05 COSM1621213 c.887G>C p.G296A Substitution - Missense 6:169664183-169664183 - GHE0645 COSM5714700 c.396C>A p.S132R Substitution - Missense 6:169670629-169670629 - B99-Tumor COSM4006208 c.1458A>G p.S486S Substitution - coding silent 6:169651953-169651953 - 2492701 COSM5716180 c.473C>A p.T158K Substitution - Missense 6:169668169-169668169 - RMS111_ COSM3761673 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - YUFERY COSM5404826 c.182C>T p.S61F Substitution - Missense 6:169688824-169688824 - PTC-7C COSM4160377 c.1080C>T p.F360F Substitution - coding silent 6:169660712-169660712 - CSCC-27-T COSM4506487 c.721C>T p.L241F Substitution - Missense 6:169665548-169665548 - RH30SJ_ COSM3761675 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - AOCS-142-3-5 COSM4149280 c.1800G>T p.L600L Substitution - coding silent 6:169638608-169638608 - 2492700 COSM5716182 c.473C>A p.T158K Substitution - Missense 6:169668169-169668169 - CHC2034T COSM4789765 c.2306A>G p.D769G Substitution - Missense 6:169613574-169613574 - 3844_T COSM3948803 c.424G>T p.A142S Substitution - Missense 6:169670601-169670601 - TCGA-FW-A3R5-06 COSM3921093 c.514C>T p.P172S Substitution - Missense 6:169668128-169668128 - TCGA-CM-5861-01 COSM1442317 c.805G>T p.D269Y Substitution - Missense 6:169664265-169664265 - 5_PRE-TREATMENT COSM1724700 c.502_503insC p.R168fs*48 Insertion - Frameshift 6:169668139-169668140 - TCGA-BR-6563-01 COSM3860521 c.504C>T p.R168R Substitution - coding silent 6:169668138-169668138 - TCGA-ER-A193-06 COSM3622973 c.1006C>T p.P336S Substitution - Missense 6:169662323-169662323 - 218 COSM4424924 c.2004-1G>C p.? Unknown 6:169634526-169634526 - HCT15 COSM2855384 c.765C>T p.T255T Substitution - coding silent 6:169665504-169665504 - TCGA-CZ-4856-01 COSM483706 c.376G>T p.V126L Substitution - Missense 6:169670649-169670649 - DLD1 COSM2855324 c.1550G>T p.S517I Substitution - Missense 6:169649207-169649207 - CSCC-16-T COSM4479813 c.2362C>T p.P788S Substitution - Missense 6:169602281-169602281 - TCGA-A5-A0GP-01 COSM1076141 c.1081G>A p.V361I Substitution - Missense 6:169660711-169660711 - CR007 COSM4994574 c.616C>T p.R206* Substitution - Nonsense 6:169668026-169668026 - T1154 COSM4740932 c.954T>C p.V318V Substitution - coding silent 6:169662375-169662375 - TCGA-EK-A3GK-01 COSM4853761 c.2211C>G p.I737M Substitution - Missense 6:169632959-169632959 - TCGA-CK-5913-01 COSM1442315 c.1239C>T p.A413A Substitution - coding silent 6:169659166-169659166 - BK0032 COSM4186914 c.1099C>A p.L367M Substitution - Missense 6:169660693-169660693 - TCGA-EE-A29M-06 COSM3622967 c.2384C>T p.P795L Substitution - Missense 6:169602259-169602259 - TCGA-D3-A51G-06 COSM3622977 c.307G>A p.E103K Substitution - Missense 6:169672279-169672279 - C086 COSM5541706 c.1206C>T p.C402C Substitution - coding silent 6:169659199-169659199 - sysucc-311T COSM5466759 c.706T>C p.L236L Substitution - coding silent 6:169667142-169667142 - C391 COSM2855414 c.502C>T p.R168C Substitution - Missense 6:169668140-169668140 - TCGA-27-2523-01 COSM3410796 c.1996A>G p.I666V Substitution - Missense 6:169636378-169636378 - SC_9100 COSM5549295 c.773C>T p.A258V Substitution - Missense 6:169665496-169665496 - 4_RESISTANT COSM1724698 c.502_503insC p.R168fs*48 Insertion - Frameshift 6:169668139-169668140 - 61 COSM5737847 c.1482-2A>G p.? Unknown 6:169649277-169649277 - TCGA-BR-8591-01 COSM3860513 c.1870-1G>C p.? Unknown 6:169636505-169636505 - TCGA-AA-3492-01 COSM3697680 c.1173G>A p.L391L Substitution - coding silent 6:169659475-169659475 - SNUH_G45_S1 COSM4003797 c.652G>A p.G218S Substitution - Missense 6:169667990-169667990 - 8067246 COSM2855382 c.765C>T p.T255T Substitution - coding silent 6:169665504-169665504 - TCGA-HU-A4H8-01 COSM3860522 c.57T>A p.V19V Substitution - coding silent 6:169688949-169688949 - LC_C9 COSM1187226 c.752G>T p.R251M Substitution - Missense 6:169665517-169665517 - RMS66_ COSM3761673 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - 8016470 COSM3393983 c.824G>A p.R275H Substitution - Missense 6:169664246-169664246 - RK308_C01 COSM3745060 c.2341G>T p.G781W Substitution - Missense 6:169602302-169602302 - CSCC-45-T COSM4558290 c.760G>A p.V254I Substitution - Missense 6:169665509-169665509 - HCT8 COSM2855324 c.1550G>T p.S517I Substitution - Missense 6:169649207-169649207 - TCGA-FW-A3R5-06 COSM3921095 c.514C>T p.P172S Substitution - Missense 6:169668128-169668128 - sysucc-1397T COSM5474913 c.2397C>T p.F799F Substitution - coding silent 6:169602246-169602246 - sysucc-731T COSM2855408 c.587C>T p.P196L Substitution - Missense 6:169668055-169668055 - LP6007422-DNA_A01 COSM4409790 c.2413G>T p.E805* Substitution - Nonsense 6:169602230-169602230 - 2492725 COSM5724806 c.1832T>G p.M611R Substitution - Missense 6:169638576-169638576 - 2492703 COSM5716180 c.473C>A p.T158K Substitution - Missense 6:169668169-169668169 - 228 COSM4426137 c.938G>C p.G313A Substitution - Missense 6:169662391-169662391 - YUFERY COSM5404828 c.182C>T p.S61F Substitution - Missense 6:169688824-169688824 - PD11741a COSM5783120 c.196A>C p.I66L Substitution - Missense 6:169672390-169672390 - RMS66_ COSM3761675 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - TCGA-BT-A20X-01 COSM1311819 c.565G>A p.E189K Substitution - Missense 6:169668077-169668077 - 2492702 COSM5716182 c.473C>A p.T158K Substitution - Missense 6:169668169-169668169 - TCGA-D1-A177-01 COSM1076137 c.1869+2T>C p.? Unknown 6:169638537-169638537 - TCGA-A6-6781-01 COSM1442309 c.2465G>A p.R822Q Substitution - Missense 6:169582894-169582894 - YULAD COSM5404831 c.112T>C p.C38R Substitution - Missense 6:169688894-169688894 - Patient_5 COSM5414503 c.2328G>A p.E776E Substitution - coding silent 6:169602315-169602315 - TCGA-D5-6540-01 COSM1442313 c.1581C>T p.C527C Substitution - coding silent 6:169647849-169647849 - 91890 COSM330502 c.131C>G p.A44G Substitution - Missense 6:169688875-169688875 - TCGA-AZ-4615-01 COSM3697678 c.2286C>T p.G762G Substitution - coding silent 6:169613594-169613594 - T3262 COSM4740930 c.1262C>T p.A421V Substitution - Missense 6:169659143-169659143 - TCGA-A2-A0T5-01 COSM3829700 c.578A>C p.H193P Substitution - Missense 6:169668064-169668064 - HCT15 COSM2855324 c.1550G>T p.S517I Substitution - Missense 6:169649207-169649207 - YUGATOR COSM5404820 c.2437G>A p.E813K Substitution - Missense 6:169582922-169582922 - 427 COSM4433130 c.1026-1G>A p.? Unknown 6:169660767-169660767 - ESCC_143 COSM2855266 c.2330G>A p.R777H Substitution - Missense 6:169602313-169602313 - CHEWS013 COSM4586481 c.968C>G p.P323R Substitution - Missense 6:169662361-169662361 - sysucc-274T COSM5476663 c.1483G>A p.V495I Substitution - Missense 6:169649274-169649274 - CSCC-10-T COSM4463982 c.1313C>T p.P438L Substitution - Missense 6:169659092-169659092 - SJRHB001 COSM4776131 c.1469C>T p.A490V Substitution - Missense 6:169651942-169651942 - RMS111_ COSM3761675 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - HDC87 COSM2855370 c.820C>T p.R274C Substitution - Missense 6:169664250-169664250 - TCGA-43-6770-01 COSM741083 c.510A>C p.K170N Substitution - Missense 6:169668132-169668132 - TCGA-EI-6917-01 COSM3430344 c.609T>C p.C203C Substitution - coding silent 6:169668033-169668033 - SCMC_RM2_ COSM3761673 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - ESO-859 COSM1240645 c.1045C>T p.R349* Substitution - Nonsense 6:169660747-169660747 - TCGA-AM-5820-01 COSM3761673 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - 1301T COSM5762621 c.2527G>T p.E843* Substitution - Nonsense 6:169572537-169572537 - STC246 COSM5061641 c.639G>A p.A213A Substitution - coding silent 6:169668003-169668003 - TCGA-BH-A0B6-01 COSM3829696 c.1472C>T p.S491L Substitution - Missense 6:169651939-169651939 - ESCC-060T COSM3941643 c.2146G>C p.D716H Substitution - Missense 6:169633024-169633024 - PAPNNX COSM5005149 c.1240G>A p.V414M Substitution - Missense 6:169659165-169659165 - HCC27T COSM3662293 c.522G>A p.P174P Substitution - coding silent 6:169668120-169668120 - ESO-0059 COSM1270386 c.683C>T p.S228L Substitution - Missense 6:169667165-169667165 - 2492703 COSM5716182 c.473C>A p.T158K Substitution - Missense 6:169668169-169668169 - ME044T COSM229035 c.521C>G p.P174R Substitution - Missense 6:169668121-169668121 - PD11741a COSM5783122 c.196A>C p.I66L Substitution - Missense 6:169672390-169672390 - 5_RESISTANT COSM1724700 c.502_503insC p.R168fs*48 Insertion - Frameshift 6:169668139-169668140 - Pat_41_B COSM5869786 c.1096A>G p.N366D Substitution - Missense 6:169660696-169660696 - YULONE COSM5404822 c.1960C>T p.L654L Substitution - coding silent 6:169636414-169636414 - TCGA-AF-3911-01 COSM3430342 c.2051C>T p.T684M Substitution - Missense 6:169634478-169634478 - 188 COSM1741647 c.1753G>A p.D585N Substitution - Missense 6:169638655-169638655 - TCGA-DD-A119-01 COSM4919876 c.2371A>G p.I791V Substitution - Missense 6:169602272-169602272 - 587348 COSM1232569 c.1555G>A p.A519T Substitution - Missense 6:169649202-169649202 - RMS106_ COSM3761675 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - T368 COSM4740928 c.1710_1711insT p.D571fs*1 Insertion - Frameshift 6:169643733-169643734 - S02139 COSM5674556 c.1824C>G p.T608T Substitution - coding silent 6:169638584-169638584 - TCGA-BT-A2LB-01 COSM3777320 c.1650G>C p.Q550H Substitution - Missense 6:169647780-169647780 - PCSI_0467_Pa_P_526 COSM4639553 c.2430C>T p.Y810Y Substitution - coding silent 6:169582929-169582929 - RK184_C01 COSM1634642 c.273A>G p.A91A Substitution - coding silent 6:169672313-169672313 - TCGA-43-6770-01 COSM741085 c.510A>C p.K170N Substitution - Missense 6:169668132-169668132 - RMS110_ COSM3761673 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - sysucc-311T COSM5466757 c.706T>C p.L236L Substitution - coding silent 6:169667142-169667142 - TCGA-DI-A0WH-01 COSM1076147 c.476A>G p.Y159C Substitution - Missense 6:169668166-169668166 - PT22_1 COSM5902307 c.1031C>T p.S344F Substitution - Missense 6:169660761-169660761 - CHC205T COSM4407387 c.1335G>A p.P445P Substitution - coding silent 6:169658343-169658343 - 2492729 COSM5727931 c.1094C>T p.A365V Substitution - Missense 6:169660698-169660698 - TARGET-30-PARHDE COSM1288934 c.2354delG p.R785fs*106 Deletion - Frameshift 6:169602289-169602289 - TCGA-EI-6917-01 COSM3430346 c.609T>C p.C203C Substitution - coding silent 6:169668033-169668033 - sysucc-444T COSM5765046 c.1180C>T p.R394C Substitution - Missense 6:169659468-169659468 - TCGA-AM-5820-01 COSM3761675 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - RMS106_ COSM3761673 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - TCGA-D1-A17U-01 COSM1076131 c.2516C>T p.A839V Substitution - Missense 6:169582843-169582843 - RMS105_ COSM3761673 c.398T>C p.L133P Substitution - Missense 6:169670627-169670627 - 91890 COSM330500 c.131C>G p.A44G Substitution - Missense 6:169688875-169688875 - CR007 COSM4994572 c.616C>T p.R206* Substitution - Nonsense 6:169668026-169668026 - TCGA-CD-A4MI-01 COSM3860515 c.1263G>A p.A421A Substitution - coding silent 6:169659142-169659142 - HX33T COSM3662293 c.522G>A p.P174P Substitution - coding silent 6:169668120-169668120 - TCGA-B5-A0JY-01 COSM1076133 c.2384C>A p.P795H Substitution - Missense 6:169602259-169602259 - PD7249a COSM5781964 c.2373C>A p.I791I Substitution - coding silent 6:169602270-169602270 - SNU-C4 COSM2855388 c.742G>T p.A248S Substitution - Missense 6:169665527-169665527 - RK020_C01 COSM1634640 c.1975A>C p.I659L Substitution - Missense 6:169636399-169636399 - 2492702 COSM5716180 c.473C>A p.T158K Substitution - Missense 6:169668169-169668169 - CHC2034T COSM4789765 c.2306A>G p.D769G Substitution - Missense 6:169613574-169613574 - TCGA-A5-A0VP-01 COSM1076143 c.823C>T p.R275C Substitution - Missense 6:169664247-169664247 - 2492724 COSM5724806 c.1832T>G p.M611R Substitution - Missense 6:169638576-169638576 - 6T COSM3715443 c.887G>T p.G296V Substitution - Missense 6:169664183-169664183 - CPCG0103-P7 COSM3396637 c.2547C>G p.H849Q Substitution - Missense 6:169572517-169572517 - TCGA-EE-A3J5-06 COSM3622978 c.206G>A p.G69E Substitution - Missense 6:169672380-169672380 - TCGA-AK-3465-01 COSM1496249 c.2130G>T p.R710S Substitution - Missense 6:169633040-169633040 - STC246 COSM5061643 c.639G>A p.A213A Substitution - coding silent 6:169668003-169668003 - Pa41X COSM85019 c.26C>A p.S9* Substitution - Nonsense 6:169688980-169688980 - ME002T COSM222113 c.2594C>T p.S865F Substitution - Missense 6:169572470-169572470 - 5_RESISTANT COSM1724698 c.502_503insC p.R168fs*48 Insertion - Frameshift 6:169668139-169668140 - sysucc-783T COSM5484825 c.1554C>T p.C518C Substitution - coding silent 6:169649203-169649203 - TCGA-EE-A2M5-06 COSM3622969 c.2263C>T p.L755F Substitution - Missense 6:169613617-169613617 - DLD1 COSM2855382 c.765C>T p.T255T Substitution - coding silent 6:169665504-169665504 - PT49 COSM3622967 c.2384C>T p.P795L Substitution - Missense 6:169602259-169602259 - SW48 COSM2855354 c.1213G>A p.A405T Substitution - Missense 6:169659192-169659192 - YULONE COSM5404824 c.1029T>A p.L343L Substitution - coding silent 6:169660763-169660763 - 084T COSM1731136 c.1547G>T p.S516I Substitution - Missense 6:169649210-169649210 - TCGA-EE-A3J5-06 COSM3622980 c.206G>A p.G69E Substitution - Missense 6:169672380-169672380 - S02242 COSM5677444 c.1807G>T p.A603S Substitution - Missense 6:169638601-169638601 - HCT15 COSM2855382 c.765C>T p.T255T Substitution - coding silent 6:169665504-169665504 - TCGA-51-4081-01 COSM741086 c.1384G>C p.A462P Substitution - Missense 6:169658294-169658294 - 2334202 COSM324291 c.231G>T p.M77I Substitution - Missense 6:169672355-169672355 - 2492700 COSM5716180 c.473C>A p.T158K Substitution - Missense 6:169668169-169668169 - 5_PRE-TREATMENT COSM1724698 c.502_503insC p.R168fs*48 Insertion - Frameshift 6:169668139-169668140 - TCGA-UC-A7PF-01 COSM4830391 c.1745C>T p.S582L Substitution - Missense 6:169643699-169643699 - CSCC-27-T COSM4506489 c.721C>T p.L241F Substitution - Missense 6:169665548-169665548 - TCGA-AB-2904-03 COSM1319126 c.2134G>A p.V712M Substitution - Missense 6:169633036-169633036 - LUAD-D02185 COSM338799 c.2004-2A>G p.? Unknown 6:169634527-169634527 - HCC27 COSM3662293 c.522G>A p.P174P Substitution - coding silent 6:169668120-169668120 - 3N23-VS-3T23 COSM4979627 c.2061A>T p.V687V Substitution - coding silent 6:169634468-169634468 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.131903 6q27

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G SpliceDonorSNV . c.1869+2T>C 6 170038633 UCEC - C 3-UTRInsertion . c.2685+337_2685+338insG 6 169857352 RCCC C A Missense p.A139S c.415G>T 6 170070706 CM C A Missense p.C141F c.422G>T 6 170070699 LUAD C A Missense p.C738F c.2213G>T 6 170033053 LUAD C A Missense p.M77I c.231G>T 6 170072451 SCLC C A Missense p.Q63H c.189G>T 6 170088913 LUAD C A Missense p.R466L c.1397G>T 6 170058377 SCLC C A Missense p.V138F c.412G>T 6 170070709 BRCA C A Nonsense p.S9* c.26C>A 6 170089076 PAAD C A Synonymous p.A396A c.1188G>T 6 170059556 STAD C G Missense p.A462P c.1384G>C 6 170058390 LUSC C G Missense p.Q550H c.1650G>C 6 170047876 BLCA C G Synonymous p.L823L c.2469G>C 6 169982986 CM C T Missense p.A461T c.1381G>A 6 170058393 UCEC C T Missense p.E189K c.565G>A 6 170068173 BLCA C T Missense p.G69E c.206G>A 6 170072476 CM C T Missense p.V361I c.1081G>A 6 170060807 UCEC C T Missense p.V712M c.2134G>A 6 170033132 AML G A Missense p.A839V c.2516C>T 6 169982939 UCEC G A Missense p.L755F c.2263C>T 6 170013713 CM G A Missense p.P336S c.1006C>T 6 170062419 CM G A Missense p.P795L c.2384C>T 6 170002355 CM G A Missense p.R275C c.823C>T 6 170064343 UCEC G A Missense p.R470W c.1408C>T 6 170052099 HNSC G A Missense p.S228L c.683C>T 6 170067261 ESCA G A Missense p.S30F c.89C>T 6 170089013 CM G A Missense p.S487F c.1460C>T 6 170052047 LGG G A Missense p.S700F c.2099C>T 6 170034526 HNSC G A Missense p.S744L c.2231C>T 6 170013745 BLCA G A Missense p.T542I c.1625C>T 6 170047901 CM G A Synonymous p.G195G c.585C>T 6 170068153 CM G A Synonymous p.I504I c.1512C>T 6 170049341 CM G A Synonymous p.L883L c.2649G>A 6 169857726 GBM G C Missense p.P174R c.521C>G 6 170068217 CM G T 3-UTRSNV . c.2685+277C>A 6 169857413 DLBCL T A 5-UTRSNV . c.1-2A>T 6 170089103 MM T A Missense p.Q748L c.2243A>T 6 170013733 SCLC T C IntronicSNV . c.2425-323A>G 6 169983353 CLL T C Missense p.I666V c.1996A>G 6 170036474 GBM T C Missense p.Y374C c.1121A>G 6 170060767 HNSC T G Missense p.I659L c.1975A>C 6 170036495 HC T G Missense p.K170N c.510A>C 6 170068228 LUSC T G SpliceAcceptorSNV . c.1130-2A>C 6 170059616 OV - T IntronicInsertion . c.2424+4258dupA 6 169998057 CM - T IntronicInsertion . c.2646-44087dupA 6 169901816 CM