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 BLCA 6 111983077 111983077 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 g.chr6:111983077G>A c.1479C>T c.(1477-1479)atC>atT p.I493I BLCA 6 112017536 112017536 + Missense_Mutation SNP A A G TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr6:112017536A>G c.986T>C c.(985-987)cTc>cCc p.L329P BLCA 6 112025286 112025286 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr6:112025286C>T c.463G>A c.(463-465)Ggc>Agc p.G155S BLCA 6 112025302 112025302 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 g.chr6:112025302C>G c.447G>C c.(445-447)tgG>tgC p.W149C BLCA 6 112035563 112035563 + Missense_Mutation SNP T T C TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr6:112035563T>C c.331A>G c.(331-333)Ata>Gta p.I111V BLCA 6 112035566 112035566 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chr6:112035566G>C c.328C>G c.(328-330)Caa>Gaa p.Q110E BLCA 6 112041037 112041037 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr6:112041037G>A c.218C>T c.(217-219)aCg>aTg p.T73M BLCA 6 112041046 112041046 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr6:112041046G>A c.209C>T c.(208-210)tCg>tTg p.S70L BLCA 6 112041147 112041147 + Silent SNP A A C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 g.chr6:112041147A>C c.108T>G c.(106-108)ccT>ccG p.P36P BRCA 6 112015900 112015900 + Silent SNP T T C TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 g.chr6:112015900T>C c.1050A>G c.(1048-1050)ttA>ttG p.L350L CESC 6 111983016 111983016 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr6:111983016C>T c.1540G>A c.(1540-1542)Gag>Aag p.E514K CESC 6 112025271 112025271 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 g.chr6:112025271C>T c.478G>A c.(478-480)Gag>Aag p.E160K CESC 6 112029209 112029209 + Missense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr6:112029209C>A c.359G>T c.(358-360)tGg>tTg p.W120L CESC 6 112041198 112041198 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 g.chr6:112041198G>A c.57C>T c.(55-57)gaC>gaT p.D19D COAD 6 111995735 111995735 + Missense_Mutation SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr6:111995735C>T c.1372G>A c.(1372-1374)Gag>Aag p.E458K COAD 6 112015621 112015621 + Silent SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr6:112015621T>C c.1230A>G c.(1228-1230)ggA>ggG p.G410G COAD 6 112017479 112017479 + Splice_Site SNP C C T TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr6:112017479C>T c.e10+1 COAD 6 112017479 112017479 + Splice_Site SNP C C T TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr6:112017479C>T c.e10+1 COAD 6 112017652 112017652 + Nonsense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr6:112017652C>T c.870G>A c.(868-870)tgG>tgA p.W290* COAD 6 112017654 112017654 + Missense_Mutation SNP A A G TCGA-A6-2671-01A-01D-1408-10 TCGA-A6-2671-10A-01D-1408-10 g.chr6:112017654A>G c.868T>C c.(868-870)Tgg>Cgg p.W290R COAD 6 112020818 112020819 + Intron INS - - G TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr6:112020818_112020819insG COAD 6 112020830 112020830 + Intron SNP C C T TCGA-AZ-4616-01A-21D-1835-10 TCGA-AZ-4616-10A-01D-1835-10 g.chr6:112020830C>T COAD 6 112021442 112021442 + Missense_Mutation SNP C C T TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr6:112021442C>T c.727G>A c.(727-729)Gta>Ata p.V243I COAD 6 112024169 112024169 + Missense_Mutation SNP G G A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr6:112024169G>A c.616C>T c.(616-618)Cgc>Tgc p.R206C COAD 6 112024169 112024169 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:112024169G>A c.616C>T c.(616-618)Cgc>Tgc p.R206C COAD 6 112024169 112024169 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:112024169G>A c.616C>T c.(616-618)Cgc>Tgc p.R206C COAD 6 112024216 112024216 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr6:112024216C>T c.569G>A c.(568-570)cGt>cAt p.R190H COAD 6 112025268 112025268 + Nonsense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr6:112025268G>A c.481C>T c.(481-483)Cga>Tga p.R161* COAD 6 112025268 112025268 + Nonsense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:112025268G>A c.481C>T c.(481-483)Cga>Tga p.R161* COAD 6 112041128 112041128 + Missense_Mutation SNP C C T TCGA-CM-5341-01A-01D-1408-10 TCGA-CM-5341-10A-01D-1408-10 g.chr6:112041128C>T c.127G>A c.(127-129)Ggt>Agt p.G43S COAD 6 112041195 112041195 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr6:112041195G>A c.60C>T c.(58-60)ggC>ggT p.G20G COAD 6 112041227 112041227 + Nonsense_Mutation SNP C C A TCGA-AA-3994-01A-01W-1073-09 TCGA-AA-3994-10A-01W-1073-09 g.chr6:112041227C>A c.28G>T c.(28-30)Gaa>Taa p.E10* COADREAD 6 111995735 111995735 + Missense_Mutation SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr6:111995735C>T c.1372G>A c.(1372-1374)Gag>Aag p.E458K COADREAD 6 112015621 112015621 + Silent SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr6:112015621T>C c.1230A>G c.(1228-1230)ggA>ggG p.G410G COADREAD 6 112017479 112017479 + Splice_Site SNP C C T TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr6:112017479C>T c.e10+1 COADREAD 6 112017479 112017479 + Splice_Site SNP C C T TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr6:112017479C>T c.e10+1 COADREAD 6 112017652 112017652 + Nonsense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr6:112017652C>T c.870G>A c.(868-870)tgG>tgA p.W290* COADREAD 6 112017653 112017653 + Missense_Mutation SNP C C A TCGA-AF-4110-01A-02D-1733-10 TCGA-AF-4110-10A-01D-1733-10 g.chr6:112017653C>A c.869G>T c.(868-870)tGg>tTg p.W290L COADREAD 6 112017654 112017654 + Missense_Mutation SNP A A G TCGA-A6-2671-01A-01D-1408-10 TCGA-A6-2671-10A-01D-1408-10 g.chr6:112017654A>G c.868T>C c.(868-870)Tgg>Cgg p.W290R COADREAD 6 112020818 112020819 + Intron INS - - G TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr6:112020818_112020819insG COADREAD 6 112020830 112020830 + Intron SNP C C T TCGA-AZ-4616-01A-21D-1835-10 TCGA-AZ-4616-10A-01D-1835-10 g.chr6:112020830C>T COADREAD 6 112021442 112021442 + Missense_Mutation SNP C C T TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr6:112021442C>T c.727G>A c.(727-729)Gta>Ata p.V243I COADREAD 6 112024169 112024169 + Missense_Mutation SNP G G A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr6:112024169G>A c.616C>T c.(616-618)Cgc>Tgc p.R206C COADREAD 6 112024169 112024169 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:112024169G>A c.616C>T c.(616-618)Cgc>Tgc p.R206C COADREAD 6 112024169 112024169 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:112024169G>A c.616C>T c.(616-618)Cgc>Tgc p.R206C COADREAD 6 112024216 112024216 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr6:112024216C>T c.569G>A c.(568-570)cGt>cAt p.R190H COADREAD 6 112025268 112025268 + Nonsense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr6:112025268G>A c.481C>T c.(481-483)Cga>Tga p.R161* COADREAD 6 112025268 112025268 + Nonsense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:112025268G>A c.481C>T c.(481-483)Cga>Tga p.R161* COADREAD 6 112041099 112041099 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:112041099G>T c.156C>A c.(154-156)aaC>aaA p.N52K COADREAD 6 112041128 112041128 + Missense_Mutation SNP C C T TCGA-CM-5341-01A-01D-1408-10 TCGA-CM-5341-10A-01D-1408-10 g.chr6:112041128C>T c.127G>A c.(127-129)Ggt>Agt p.G43S COADREAD 6 112041168 112041168 + Silent SNP G G T TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr6:112041168G>T c.87C>A c.(85-87)cgC>cgA p.R29R COADREAD 6 112041195 112041195 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr6:112041195G>A c.60C>T c.(58-60)ggC>ggT p.G20G COADREAD 6 112041227 112041227 + Nonsense_Mutation SNP C C A TCGA-AA-3994-01A-01W-1073-09 TCGA-AA-3994-10A-01W-1073-09 g.chr6:112041227C>A c.28G>T c.(28-30)Gaa>Taa p.E10* ESCA 6 112015848 112015848 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 g.chr6:112015848C>T c.1102G>A c.(1102-1104)Gtg>Atg p.V368M GBM 6 112015863 112015863 + Missense_Mutation SNP T T C TCGA-76-6657-01A-11D-1845-08 TCGA-76-6657-10A-01D-1845-08 g.chr6:112015863T>C c.1087A>G c.(1087-1089)Aaa>Gaa p.K363E GBMLGG 6 111983139 111983139 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:111983139G>A c.1417C>T c.(1417-1419)Cgg>Tgg p.R473W GBMLGG 6 112015863 112015863 + Missense_Mutation SNP T T C TCGA-76-6657-01A-11D-1845-08 TCGA-76-6657-10A-01D-1845-08 g.chr6:112015863T>C c.1087A>G c.(1087-1089)Aaa>Gaa p.K363E HNSC 6 112017481 112017481 + Splice_Site SNP T T A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 g.chr6:112017481T>A c.1041A>T c.(1039-1041)aaA>aaT p.K347N HNSC 6 112021406 112021406 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 g.chr6:112021406C>T c.763G>A c.(763-765)Gat>Aat p.D255N HNSC 6 112024217 112024217 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr6:112024217G>A c.568C>T c.(568-570)Cgt>Tgt p.R190C HNSC 6 112029202 112029202 + Silent SNP G G A TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 g.chr6:112029202G>A c.366C>T c.(364-366)gcC>gcT p.A122A HNSC 6 112035585 112035585 + Missense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 g.chr6:112035585A>T c.309T>A c.(307-309)ttT>ttA p.F103L KIPAN 6 111983021 111983021 + Missense_Mutation SNP G G T TCGA-B0-5095-01A-01D-1421-08 TCGA-B0-5095-11A-01D-1421-08 g.chr6:111983021G>T c.1535C>A c.(1534-1536)aCt>aAt p.T512N KIPAN 6 112015631 112015631 + Missense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 g.chr6:112015631G>A c.1220C>T c.(1219-1221)gCt>gTt p.A407V KIRC 6 111983021 111983021 + Missense_Mutation SNP G G T TCGA-B0-5095-01A-01D-1421-08 TCGA-B0-5095-11A-01D-1421-08 g.chr6:111983021G>T c.1535C>A c.(1534-1536)aCt>aAt p.T512N KIRC 6 112015631 112015631 + Missense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 g.chr6:112015631G>A c.1220C>T c.(1219-1221)gCt>gTt p.A407V LGG 6 111983139 111983139 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:111983139G>A c.1417C>T c.(1417-1419)Cgg>Tgg p.R473W LIHC 6 112021336 112021336 + Frame_Shift_Del DEL C C - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr6:112021336delC c.833delG c.(832-834)ggafs p.G278fs LIHC 6 112035597 112035597 + Silent SNP A A G TCGA-DD-A4NQ-01A-21D-A28X-10 TCGA-DD-A4NQ-10A-01D-A28X-10 g.chr6:112035597A>G c.297T>C c.(295-297)gaT>gaC p.D99D LUAD 6 111983042 111983042 + Frame_Shift_Del DEL T T - TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 g.chr6:111983042delT c.1514delA c.(1513-1515)aagfs p.K505fs LUAD 6 111983047 111983047 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 g.chr6:111983047C>A c.1509G>T c.(1507-1509)tgG>tgT p.W503C LUAD 6 111983136 111983136 + Nonsense_Mutation SNP C C A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr6:111983136C>A c.1420G>T c.(1420-1422)Gag>Tag p.E474* LUAD 6 112015907 112015907 + Splice_Site SNP C C A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 g.chr6:112015907C>A c.1043G>T c.(1042-1044)gGa>gTa p.G348V LUAD 6 112020718 112020718 + Intron SNP C C A TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr6:112020718C>A LUAD 6 112021338 112021338 + Silent SNP C C G TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr6:112021338C>G c.831G>C c.(829-831)ctG>ctC p.L277L LUAD 6 112021448 112021448 + Missense_Mutation SNP G G A TCGA-55-8513-01A-11D-2393-08 TCGA-55-8513-10A-01D-2393-08 g.chr6:112021448G>A c.721C>T c.(721-723)Cgc>Tgc p.R241C LUAD 6 112024101 112024101 + Silent SNP T T A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 g.chr6:112024101T>A c.684A>T c.(682-684)gtA>gtT p.V228V LUAD 6 112025246 112025246 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 g.chr6:112025246T>A c.503A>T c.(502-504)aAc>aTc p.N168I LUAD 6 112035607 112035607 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 g.chr6:112035607C>T c.287G>A c.(286-288)cGg>cAg p.R96Q LUAD 6 112041086 112041086 + Missense_Mutation SNP C C T TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr6:112041086C>T c.169G>A c.(169-171)Ggg>Agg p.G57R LUSC 6 111995730 111995731 + Missense_Mutation DNP CA CA AG TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 g.chr6:111995730_111995731CA>AG c.1376_1377TG>CT c.(1375-1377)cTG>cCT p.L459P LUSC 6 111995783 111995783 + Missense_Mutation SNP T T C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 g.chr6:111995783T>C c.1324A>G c.(1324-1326)Agg>Ggg p.R442G LUSC 6 112017519 112017519 + Missense_Mutation SNP C C G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 g.chr6:112017519C>G c.1003G>C c.(1003-1005)Gag>Cag p.E335Q LUSC 6 112035579 112035579 + Missense_Mutation SNP T T A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr6:112035579T>A c.315A>T c.(313-315)aaA>aaT p.K105N LUSC 6 112041170 112041170 + Missense_Mutation SNP G G C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr6:112041170G>C c.85C>G c.(85-87)Cgc>Ggc p.R29G PAAD 6 111983042 111983042 + Frame_Shift_Del DEL T T - TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 g.chr6:111983042delT c.1514delA c.(1513-1515)aagfs p.K505fs PRAD 6 111995769 111995769 + Missense_Mutation SNP C C A TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 g.chr6:111995769C>A c.1338G>T c.(1336-1338)aaG>aaT p.K446N READ 6 112017653 112017653 + Missense_Mutation SNP C C A TCGA-AF-4110-01A-02D-1733-10 TCGA-AF-4110-10A-01D-1733-10 g.chr6:112017653C>A c.869G>T c.(868-870)tGg>tTg p.W290L READ 6 112041099 112041099 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:112041099G>T c.156C>A c.(154-156)aaC>aaA p.N52K READ 6 112041168 112041168 + Silent SNP G G T TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr6:112041168G>T c.87C>A c.(85-87)cgC>cgA p.R29R SARC 6 112021423 112021423 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr6:112021423C>T c.746G>A c.(745-747)gGg>gAg p.G249E SKCM 6 111983042 111983042 + Frame_Shift_Del DEL T T - TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 g.chr6:111983042delT c.1514delA c.(1513-1515)aagfs p.K505fs SKCM 6 111995755 111995755 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr6:111995755G>A c.1352C>T c.(1351-1353)tCt>tTt p.S451F SKCM 6 112017611 112017611 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr6:112017611C>T c.911G>A c.(910-912)gGc>gAc p.G304D SKCM 6 112017612 112017612 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr6:112017612C>T c.910G>A c.(910-912)Ggc>Agc p.G304S SKCM 6 112021360 112021360 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr6:112021360G>A c.809C>T c.(808-810)tCc>tTc p.S270F SKCM 6 112021399 112021399 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr6:112021399G>A c.770C>T c.(769-771)tCt>tTt p.S257F SKCM 6 112025283 112025283 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr6:112025283G>A c.466C>T c.(466-468)Cga>Tga p.R156* SKCM 6 112035566 112035566 + Missense_Mutation SNP G G T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 g.chr6:112035566G>T c.328C>A c.(328-330)Caa>Aaa p.Q110K

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 112020779 112020779 single base substitution T A downstream_gene_variant BLCA-CN 6 112020779 112020779 single base substitution T A intron_variant BLCA-CN 6 112020779 112020779 single base substitution T A synonymous_variant A215A 645A>T BLCA-CN 6 112020779 112020779 single base substitution T A synonymous_variant A264A 792A>T BLCA-CN 6 112020779 112020779 single base substitution T A upstream_gene_variant BLCA-CN 6 112035636 112035636 single base substitution G C exon_variant BLCA-CN 6 112035636 112035636 single base substitution G C synonymous_variant L69L 207C>G BLCA-CN 6 112035636 112035636 single base substitution G C synonymous_variant L86L 258C>G BLCA-US 6 111983077 111983077 single base substitution G A exon_variant BLCA-US 6 111983077 111983077 single base substitution G A synonymous_variant I438I 1314C>T BLCA-US 6 111983077 111983077 single base substitution G A synonymous_variant I441I 1323C>T BLCA-US 6 111983077 111983077 single base substitution G A synonymous_variant I490I 1470C>T BLCA-US 6 111983077 111983077 single base substitution G A synonymous_variant I493I 1479C>T BLCA-US 6 112035566 112035566 single base substitution G C downstream_gene_variant BLCA-US 6 112035566 112035566 single base substitution G C exon_variant BLCA-US 6 112035566 112035566 single base substitution G C intron_variant BLCA-US 6 112035566 112035566 single base substitution G C missense_variant Q110E 328C>G BOCA-FR 6 112103865 112103865 single base substitution G A intron_variant BOCA-FR 6 112103865 112103865 single base substitution G A upstream_gene_variant BRCA-EU 6 111976862 111976862 single base substitution C G downstream_gene_variant BRCA-EU 6 111979567 111979567 single base substitution G C downstream_gene_variant BRCA-EU 6 111981182 111981182 single base substitution G T downstream_gene_variant BRCA-EU 6 111983449 111983449 single base substitution C G intron_variant BRCA-EU 6 111987868 111987868 single base substitution T A intron_variant BRCA-EU 6 111988544 111988544 single base substitution C T intron_variant BRCA-EU 6 111990614 111990614 single base substitution G T intron_variant BRCA-EU 6 111990941 111990941 single base substitution T C downstream_gene_variant BRCA-EU 6 111990941 111990941 single base substitution T C intron_variant BRCA-EU 6 111991990 111991990 single base substitution C T downstream_gene_variant BRCA-EU 6 111991990 111991990 single base substitution C T intron_variant BRCA-EU 6 111992428 111992428 single base substitution G A downstream_gene_variant BRCA-EU 6 111992428 111992428 single base substitution G A intron_variant BRCA-EU 6 111993110 111993110 single base substitution T C downstream_gene_variant BRCA-EU 6 111993110 111993110 single base substitution T C intron_variant BRCA-EU 6 111994332 111994332 single base substitution G C downstream_gene_variant BRCA-EU 6 111994332 111994332 single base substitution G C intron_variant BRCA-EU 6 111994650 111994650 single base substitution T C downstream_gene_variant BRCA-EU 6 111994650 111994650 single base substitution T C intron_variant BRCA-EU 6 111994808 111994808 single base substitution C G downstream_gene_variant BRCA-EU 6 111994808 111994808 single base substitution C G intron_variant BRCA-EU 6 111997038 111997038 insertion of <=200bp - A intron_variant BRCA-EU 6 111997115 111997115 single base substitution C G intron_variant BRCA-EU 6 111997344 111997344 single base substitution T C intron_variant BRCA-EU 6 111998596 111998596 single base substitution C G intron_variant BRCA-EU 6 111998596 111998596 single base substitution C G upstream_gene_variant BRCA-EU 6 111998879 111998879 single base substitution C G intron_variant BRCA-EU 6 111998879 111998879 single base substitution C G upstream_gene_variant BRCA-EU 6 111999240 111999241 deletion of <=200bp TG - intron_variant BRCA-EU 6 111999240 111999241 deletion of <=200bp TG - upstream_gene_variant BRCA-EU 6 111999799 111999799 single base substitution T C intron_variant BRCA-EU 6 111999799 111999799 single base substitution T C upstream_gene_variant BRCA-EU 6 112000118 112000118 single base substitution G A intron_variant BRCA-EU 6 112000118 112000118 single base substitution G A upstream_gene_variant BRCA-EU 6 112004234 112004234 single base substitution A G intron_variant BRCA-EU 6 112005383 112005383 single base substitution G T intron_variant BRCA-EU 6 112006383 112006383 single base substitution C G intron_variant BRCA-EU 6 112007771 112007771 single base substitution T A intron_variant BRCA-EU 6 112008962 112008962 single base substitution A G intron_variant BRCA-EU 6 112009841 112009841 single base substitution T C intron_variant BRCA-EU 6 112009844 112009844 single base substitution T C intron_variant BRCA-EU 6 112010024 112010024 single base substitution C T intron_variant BRCA-EU 6 112010707 112010707 single base substitution G A intron_variant BRCA-EU 6 112011021 112011021 single base substitution G T intron_variant BRCA-EU 6 112012270 112012270 single base substitution G A intron_variant BRCA-EU 6 112012451 112012451 single base substitution C A intron_variant BRCA-EU 6 112014045 112014045 single base substitution C T downstream_gene_variant BRCA-EU 6 112014045 112014045 single base substitution C T intron_variant BRCA-EU 6 112014194 112014194 single base substitution G A downstream_gene_variant BRCA-EU 6 112014194 112014194 single base substitution G A intron_variant BRCA-EU 6 112015566 112015566 single base substitution T C downstream_gene_variant BRCA-EU 6 112015566 112015566 single base substitution T C intron_variant BRCA-EU 6 112017276 112017276 single base substitution C T downstream_gene_variant BRCA-EU 6 112017276 112017276 single base substitution C T intron_variant BRCA-EU 6 112017496 112017496 single base substitution G T downstream_gene_variant BRCA-EU 6 112017496 112017496 single base substitution G T exon_variant BRCA-EU 6 112017496 112017496 single base substitution G T synonymous_variant T287T 861C>A BRCA-EU 6 112017496 112017496 single base substitution G T synonymous_variant T290T 870C>A BRCA-EU 6 112017496 112017496 single base substitution G T synonymous_variant T339T 1017C>A BRCA-EU 6 112017496 112017496 single base substitution G T synonymous_variant T342T 1026C>A BRCA-EU 6 112021625 112021625 single base substitution C T downstream_gene_variant BRCA-EU 6 112021625 112021625 single base substitution C T intron_variant BRCA-EU 6 112021625 112021625 single base substitution C T upstream_gene_variant BRCA-EU 6 112023028 112023028 single base substitution C A downstream_gene_variant BRCA-EU 6 112023028 112023028 single base substitution C A intron_variant BRCA-EU 6 112025434 112025434 insertion of <=200bp - T downstream_gene_variant BRCA-EU 6 112025434 112025434 insertion of <=200bp - T intron_variant BRCA-EU 6 112025434 112025434 insertion of <=200bp - T upstream_gene_variant BRCA-EU 6 112025509 112025509 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 112025509 112025509 deletion of <=200bp A - intron_variant BRCA-EU 6 112025509 112025509 deletion of <=200bp A - upstream_gene_variant BRCA-EU 6 112025612 112025612 single base substitution T G downstream_gene_variant BRCA-EU 6 112025612 112025612 single base substitution T G intron_variant BRCA-EU 6 112025612 112025612 single base substitution T G upstream_gene_variant BRCA-EU 6 112026590 112026590 single base substitution T C downstream_gene_variant BRCA-EU 6 112026590 112026590 single base substitution T C intron_variant BRCA-EU 6 112026590 112026590 single base substitution T C upstream_gene_variant BRCA-EU 6 112027031 112027031 single base substitution A T downstream_gene_variant BRCA-EU 6 112027031 112027031 single base substitution A T intron_variant BRCA-EU 6 112027031 112027031 single base substitution A T upstream_gene_variant BRCA-EU 6 112027836 112027836 single base substitution T A downstream_gene_variant BRCA-EU 6 112027836 112027836 single base substitution T A intron_variant BRCA-EU 6 112027836 112027836 single base substitution T A upstream_gene_variant BRCA-EU 6 112028395 112028395 single base substitution C G downstream_gene_variant BRCA-EU 6 112028395 112028395 single base substitution C G intron_variant BRCA-EU 6 112028395 112028395 single base substitution C G upstream_gene_variant BRCA-EU 6 112030968 112030968 single base substitution C A downstream_gene_variant BRCA-EU 6 112030968 112030968 single base substitution C A intron_variant BRCA-EU 6 112030968 112030968 single base substitution C A upstream_gene_variant BRCA-EU 6 112031260 112031260 single base substitution A C downstream_gene_variant BRCA-EU 6 112031260 112031260 single base substitution A C intron_variant BRCA-EU 6 112031260 112031260 single base substitution A C upstream_gene_variant BRCA-EU 6 112032414 112032414 single base substitution G C downstream_gene_variant BRCA-EU 6 112032414 112032414 single base substitution G C intron_variant BRCA-EU 6 112032414 112032414 single base substitution G C upstream_gene_variant BRCA-EU 6 112033767 112033767 single base substitution C T downstream_gene_variant BRCA-EU 6 112033767 112033767 single base substitution C T intron_variant BRCA-EU 6 112033767 112033767 single base substitution C T upstream_gene_variant BRCA-EU 6 112034239 112034239 single base substitution C A downstream_gene_variant BRCA-EU 6 112034239 112034239 single base substitution C A intron_variant BRCA-EU 6 112034239 112034239 single base substitution C A upstream_gene_variant BRCA-EU 6 112034746 112034746 insertion of <=200bp - C downstream_gene_variant BRCA-EU 6 112034746 112034746 insertion of <=200bp - C intron_variant BRCA-EU 6 112034746 112034746 insertion of <=200bp - C upstream_gene_variant BRCA-EU 6 112035112 112035112 single base substitution G A downstream_gene_variant BRCA-EU 6 112035112 112035112 single base substitution G A intron_variant BRCA-EU 6 112035112 112035112 single base substitution G A upstream_gene_variant BRCA-EU 6 112035747 112035747 single base substitution C G intron_variant BRCA-EU 6 112035747 112035747 single base substitution C G upstream_gene_variant BRCA-EU 6 112036237 112036237 single base substitution A C downstream_gene_variant BRCA-EU 6 112036237 112036237 single base substitution A C intron_variant BRCA-EU 6 112036237 112036237 single base substitution A C upstream_gene_variant BRCA-EU 6 112036318 112036318 single base substitution C A downstream_gene_variant BRCA-EU 6 112036318 112036318 single base substitution C A intron_variant BRCA-EU 6 112036318 112036318 single base substitution C A upstream_gene_variant BRCA-EU 6 112037248 112037248 single base substitution T A downstream_gene_variant BRCA-EU 6 112037248 112037248 single base substitution T A intron_variant BRCA-EU 6 112037248 112037248 single base substitution T A upstream_gene_variant BRCA-EU 6 112038821 112038821 single base substitution C T downstream_gene_variant BRCA-EU 6 112038821 112038821 single base substitution C T intron_variant BRCA-EU 6 112038821 112038821 single base substitution C T upstream_gene_variant BRCA-EU 6 112040233 112040233 single base substitution A C downstream_gene_variant BRCA-EU 6 112040233 112040233 single base substitution A C intron_variant BRCA-EU 6 112040233 112040233 single base substitution A C upstream_gene_variant BRCA-EU 6 112040972 112040972 single base substitution G T downstream_gene_variant BRCA-EU 6 112040972 112040972 single base substitution G T exon_variant BRCA-EU 6 112040972 112040972 single base substitution G T intron_variant BRCA-EU 6 112041092 112041092 single base substitution C T exon_variant BRCA-EU 6 112041092 112041092 single base substitution C T missense_variant A55T 163G>A BRCA-EU 6 112041153 112041153 single base substitution G A exon_variant BRCA-EU 6 112041153 112041153 single base substitution G A synonymous_variant P34P 102C>T BRCA-EU 6 112042018 112042018 single base substitution G T intron_variant BRCA-EU 6 112042018 112042018 single base substitution G T upstream_gene_variant BRCA-EU 6 112042182 112042182 single base substitution C G intron_variant BRCA-EU 6 112042182 112042182 single base substitution C G upstream_gene_variant BRCA-EU 6 112044431 112044431 single base substitution C G intron_variant BRCA-EU 6 112044431 112044431 single base substitution C G upstream_gene_variant BRCA-EU 6 112046008 112046008 single base substitution G A intron_variant BRCA-EU 6 112046008 112046008 single base substitution G A upstream_gene_variant BRCA-EU 6 112047033 112047033 single base substitution C T intron_variant BRCA-EU 6 112047333 112047333 single base substitution C A intron_variant BRCA-EU 6 112048480 112048480 single base substitution A T intron_variant BRCA-EU 6 112048845 112048845 single base substitution C G intron_variant BRCA-EU 6 112048860 112048860 single base substitution G A intron_variant BRCA-EU 6 112049411 112049411 single base substitution A G intron_variant BRCA-EU 6 112049738 112049738 single base substitution G A intron_variant BRCA-EU 6 112050251 112050251 single base substitution A C intron_variant BRCA-EU 6 112051859 112051859 single base substitution T G intron_variant BRCA-EU 6 112052127 112052127 single base substitution T C intron_variant BRCA-EU 6 112054677 112054677 single base substitution G A intron_variant BRCA-EU 6 112055321 112055322 deletion of <=200bp AA - intron_variant BRCA-EU 6 112055899 112055899 deletion of <=200bp C - intron_variant BRCA-EU 6 112056903 112056903 single base substitution C A intron_variant BRCA-EU 6 112057595 112057595 single base substitution G C intron_variant BRCA-EU 6 112057614 112057614 single base substitution C T intron_variant BRCA-EU 6 112057783 112057783 single base substitution C A intron_variant BRCA-EU 6 112061579 112061579 single base substitution C A intron_variant BRCA-EU 6 112061871 112061871 single base substitution T C intron_variant BRCA-EU 6 112062050 112062050 single base substitution C A intron_variant BRCA-EU 6 112062865 112062865 single base substitution G T intron_variant BRCA-EU 6 112063660 112063660 single base substitution G T intron_variant BRCA-EU 6 112064606 112064606 single base substitution G A intron_variant BRCA-EU 6 112065448 112065448 single base substitution C T intron_variant BRCA-EU 6 112065695 112065695 single base substitution G C intron_variant BRCA-EU 6 112066018 112066019 deletion of <=200bp AT - intron_variant BRCA-EU 6 112068252 112068252 deletion of <=200bp A - intron_variant BRCA-EU 6 112068694 112068694 single base substitution T A intron_variant BRCA-EU 6 112068724 112068724 single base substitution C T intron_variant BRCA-EU 6 112070814 112070814 single base substitution C T intron_variant BRCA-EU 6 112071077 112071077 single base substitution C T intron_variant BRCA-EU 6 112072239 112072239 insertion of <=200bp - A intron_variant BRCA-EU 6 112073123 112073123 single base substitution C G intron_variant BRCA-EU 6 112073863 112073863 single base substitution G C intron_variant BRCA-EU 6 112075142 112075142 single base substitution C A intron_variant BRCA-EU 6 112075168 112075168 single base substitution G C intron_variant BRCA-EU 6 112075274 112075274 single base substitution T G intron_variant BRCA-EU 6 112075524 112075524 single base substitution G A intron_variant BRCA-EU 6 112076246 112076246 single base substitution A C intron_variant BRCA-EU 6 112077230 112077230 single base substitution C G intron_variant BRCA-EU 6 112078153 112078153 single base substitution C T intron_variant BRCA-EU 6 112079173 112079173 insertion of <=200bp - A intron_variant BRCA-EU 6 112079196 112079196 single base substitution G C intron_variant BRCA-EU 6 112080412 112080412 single base substitution T G intron_variant BRCA-EU 6 112080412 112080412 single base substitution T G upstream_gene_variant BRCA-EU 6 112080549 112080549 single base substitution C A intron_variant BRCA-EU 6 112080549 112080549 single base substitution C A upstream_gene_variant BRCA-EU 6 112083308 112083308 single base substitution G T intron_variant BRCA-EU 6 112083308 112083308 single base substitution G T upstream_gene_variant BRCA-EU 6 112083664 112083664 single base substitution C T intron_variant BRCA-EU 6 112083664 112083664 single base substitution C T upstream_gene_variant BRCA-EU 6 112086091 112086091 single base substitution C A intron_variant BRCA-EU 6 112086091 112086091 single base substitution C A upstream_gene_variant BRCA-EU 6 112086458 112086458 single base substitution C A intron_variant BRCA-EU 6 112086824 112086824 single base substitution T C intron_variant BRCA-EU 6 112088118 112088118 single base substitution A T intron_variant BRCA-EU 6 112088529 112088529 single base substitution C G intron_variant BRCA-EU 6 112089315 112089315 single base substitution T C intron_variant BRCA-EU 6 112089983 112089983 single base substitution C G intron_variant BRCA-EU 6 112090933 112090933 insertion of <=200bp - A intron_variant BRCA-EU 6 112092756 112092756 single base substitution C G intron_variant BRCA-EU 6 112092760 112092760 single base substitution G T intron_variant BRCA-EU 6 112094958 112094958 single base substitution C G intron_variant BRCA-EU 6 112095405 112095405 single base substitution G C intron_variant BRCA-EU 6 112096155 112096155 single base substitution C G intron_variant BRCA-EU 6 112096574 112096574 single base substitution T C intron_variant BRCA-EU 6 112097285 112097285 single base substitution C T intron_variant BRCA-EU 6 112098609 112098609 single base substitution A T intron_variant BRCA-EU 6 112099341 112099341 single base substitution G C intron_variant BRCA-EU 6 112099747 112099747 deletion of <=200bp T - intron_variant BRCA-EU 6 112101733 112101733 single base substitution G A intron_variant BRCA-EU 6 112101887 112101887 single base substitution A G intron_variant BRCA-EU 6 112103579 112103579 single base substitution C G intron_variant BRCA-EU 6 112103579 112103579 single base substitution C G upstream_gene_variant BRCA-EU 6 112105619 112105619 single base substitution C G intron_variant BRCA-EU 6 112105619 112105619 single base substitution C G upstream_gene_variant BRCA-EU 6 112106685 112106685 single base substitution C G intron_variant BRCA-EU 6 112106685 112106685 single base substitution C G upstream_gene_variant BRCA-EU 6 112107927 112107927 single base substitution C T intron_variant BRCA-EU 6 112109216 112109216 single base substitution G C intron_variant BRCA-EU 6 112110262 112110262 single base substitution A T intron_variant BRCA-EU 6 112110465 112110465 single base substitution G A intron_variant BRCA-EU 6 112113362 112113362 insertion of <=200bp - A intron_variant BRCA-EU 6 112115096 112115096 single base substitution T G 5_prime_UTR_variant BRCA-EU 6 112115096 112115096 single base substitution T G intron_variant BRCA-EU 6 112115096 112115096 single base substitution T G upstream_gene_variant BRCA-EU 6 112116587 112116587 single base substitution C A intron_variant BRCA-EU 6 112116587 112116587 single base substitution C A upstream_gene_variant BRCA-EU 6 112117215 112117215 single base substitution A C intron_variant BRCA-EU 6 112117215 112117215 single base substitution A C upstream_gene_variant BRCA-EU 6 112117513 112117513 single base substitution C G intron_variant BRCA-EU 6 112117513 112117513 single base substitution C G upstream_gene_variant BRCA-EU 6 112117810 112117810 deletion of <=200bp A - intron_variant BRCA-EU 6 112117810 112117810 deletion of <=200bp A - upstream_gene_variant BRCA-EU 6 112117871 112117871 single base substitution C A intron_variant BRCA-EU 6 112117871 112117871 single base substitution C A upstream_gene_variant BRCA-EU 6 112118977 112118977 insertion of <=200bp - T intron_variant BRCA-EU 6 112118977 112118977 insertion of <=200bp - T upstream_gene_variant BRCA-EU 6 112119174 112119174 single base substitution C T intron_variant BRCA-EU 6 112119174 112119174 single base substitution C T upstream_gene_variant BRCA-EU 6 112120114 112120114 single base substitution C T intron_variant BRCA-EU 6 112120114 112120114 single base substitution C T upstream_gene_variant BRCA-EU 6 112122661 112122661 single base substitution C T intron_variant BRCA-EU 6 112122661 112122661 single base substitution C T upstream_gene_variant BRCA-EU 6 112125720 112125720 single base substitution C G intron_variant BRCA-EU 6 112126342 112126342 single base substitution G A intron_variant BRCA-EU 6 112126710 112126710 single base substitution C A intron_variant BRCA-EU 6 112126712 112126712 single base substitution C T intron_variant BRCA-EU 6 112127775 112127775 single base substitution C A intron_variant BRCA-EU 6 112129311 112129311 insertion of <=200bp - A intron_variant BRCA-EU 6 112131763 112131763 single base substitution G T intron_variant BRCA-EU 6 112132431 112132431 single base substitution G A intron_variant BRCA-EU 6 112132836 112132836 single base substitution C T intron_variant BRCA-EU 6 112132860 112132860 single base substitution G A intron_variant BRCA-EU 6 112132945 112132945 single base substitution A G intron_variant BRCA-EU 6 112134464 112134464 single base substitution A G intron_variant BRCA-EU 6 112135307 112135307 single base substitution C T 5_prime_UTR_variant BRCA-EU 6 112135307 112135307 single base substitution C T intron_variant BRCA-EU 6 112139319 112139319 insertion of <=200bp - CCATT intron_variant BRCA-EU 6 112139563 112139563 single base substitution C G intron_variant BRCA-EU 6 112141200 112141200 deletion of <=200bp T - 5_prime_UTR_variant BRCA-EU 6 112141200 112141200 deletion of <=200bp T - intron_variant BRCA-EU 6 112141200 112141200 deletion of <=200bp T - upstream_gene_variant BRCA-EU 6 112141950 112141951 deletion of <=200bp AA - intron_variant BRCA-EU 6 112141950 112141951 deletion of <=200bp AA - upstream_gene_variant BRCA-EU 6 112142289 112142289 single base substitution A G intron_variant BRCA-EU 6 112142289 112142289 single base substitution A G upstream_gene_variant BRCA-EU 6 112142625 112142625 single base substitution G C intron_variant BRCA-EU 6 112142625 112142625 single base substitution G C upstream_gene_variant BRCA-EU 6 112143697 112143697 single base substitution C T intron_variant BRCA-EU 6 112143697 112143697 single base substitution C T upstream_gene_variant BRCA-EU 6 112143875 112143875 single base substitution C G intron_variant BRCA-EU 6 112143875 112143875 single base substitution C G upstream_gene_variant BRCA-EU 6 112146277 112146277 single base substitution G A intron_variant BRCA-EU 6 112146277 112146277 single base substitution G A upstream_gene_variant BRCA-EU 6 112146636 112146636 single base substitution C G intron_variant BRCA-EU 6 112147255 112147255 single base substitution G C intron_variant BRCA-EU 6 112147952 112147952 single base substitution C G intron_variant BRCA-EU 6 112147980 112147980 single base substitution A T intron_variant BRCA-EU 6 112148421 112148421 single base substitution G A intron_variant BRCA-EU 6 112149779 112149779 insertion of <=200bp - AAA intron_variant BRCA-EU 6 112149970 112149970 insertion of <=200bp - GTT intron_variant BRCA-EU 6 112150142 112150142 single base substitution C G intron_variant BRCA-EU 6 112150193 112150193 deletion of <=200bp C - intron_variant BRCA-EU 6 112150691 112150691 single base substitution C A intron_variant BRCA-EU 6 112150715 112150715 single base substitution A T intron_variant BRCA-EU 6 112151177 112151177 single base substitution A G intron_variant BRCA-EU 6 112155303 112155303 single base substitution A G intron_variant BRCA-EU 6 112158102 112158102 single base substitution C T intron_variant BRCA-EU 6 112159703 112159703 single base substitution A C intron_variant BRCA-EU 6 112160131 112160131 single base substitution T C intron_variant BRCA-EU 6 112160149 112160149 single base substitution G C intron_variant BRCA-EU 6 112160906 112160906 single base substitution G C intron_variant BRCA-EU 6 112163251 112163251 single base substitution G A intron_variant BRCA-EU 6 112164043 112164043 single base substitution A G intron_variant BRCA-EU 6 112165271 112165271 single base substitution C T intron_variant BRCA-EU 6 112168523 112168523 single base substitution G C intron_variant BRCA-EU 6 112168523 112168523 single base substitution G C upstream_gene_variant BRCA-EU 6 112169530 112169530 single base substitution T A intron_variant BRCA-EU 6 112169530 112169530 single base substitution T A upstream_gene_variant BRCA-EU 6 112169985 112169985 single base substitution C T intron_variant BRCA-EU 6 112169985 112169985 single base substitution C T upstream_gene_variant BRCA-EU 6 112173253 112173253 single base substitution A T intron_variant BRCA-EU 6 112174247 112174247 single base substitution G T intron_variant BRCA-EU 6 112176029 112176029 single base substitution T C intron_variant BRCA-EU 6 112176137 112176137 single base substitution T A intron_variant BRCA-EU 6 112177217 112177217 single base substitution C G intron_variant BRCA-EU 6 112182243 112182243 single base substitution T C intron_variant BRCA-EU 6 112182243 112182243 single base substitution T C upstream_gene_variant BRCA-EU 6 112184710 112184710 single base substitution A T intron_variant BRCA-EU 6 112185968 112185968 single base substitution C T intron_variant BRCA-EU 6 112185970 112185970 single base substitution G C intron_variant BRCA-EU 6 112187777 112187777 single base substitution T A intron_variant BRCA-EU 6 112189522 112189522 single base substitution C T intron_variant BRCA-EU 6 112189726 112189726 single base substitution G A intron_variant BRCA-EU 6 112190159 112190159 single base substitution C A intron_variant BRCA-EU 6 112192102 112192102 single base substitution C T intron_variant BRCA-EU 6 112192343 112192343 single base substitution G A intron_variant BRCA-EU 6 112193208 112193208 single base substitution C T intron_variant BRCA-EU 6 112193265 112193265 deletion of <=200bp T - intron_variant BRCA-EU 6 112193586 112193586 single base substitution C T intron_variant BRCA-EU 6 112195800 112195800 single base substitution C G upstream_gene_variant BRCA-EU 6 112196331 112196331 single base substitution G T upstream_gene_variant BRCA-EU 6 112196408 112196408 single base substitution C A upstream_gene_variant BRCA-EU 6 112197216 112197216 single base substitution T C upstream_gene_variant BRCA-EU 6 112197917 112197917 single base substitution C A upstream_gene_variant BRCA-EU 6 112198501 112198501 single base substitution T C upstream_gene_variant BRCA-EU 6 112198845 112198845 single base substitution C G upstream_gene_variant BRCA-EU 6 112199010 112199010 insertion of <=200bp - A upstream_gene_variant BRCA-FR 6 111976862 111976862 single base substitution C G downstream_gene_variant BRCA-FR 6 111979567 111979567 single base substitution G C downstream_gene_variant BRCA-FR 6 111983449 111983449 single base substitution C G intron_variant BRCA-FR 6 111984272 111984272 single base substitution C T intron_variant BRCA-FR 6 111991990 111991990 single base substitution C T downstream_gene_variant BRCA-FR 6 111991990 111991990 single base substitution C T intron_variant BRCA-FR 6 111993110 111993110 single base substitution T C downstream_gene_variant BRCA-FR 6 111993110 111993110 single base substitution T C intron_variant BRCA-FR 6 112000545 112000545 single base substitution C A intron_variant BRCA-FR 6 112000545 112000545 single base substitution C A upstream_gene_variant BRCA-FR 6 112006007 112006007 single base substitution A C intron_variant BRCA-FR 6 112006928 112006928 single base substitution C T intron_variant BRCA-FR 6 112035747 112035747 single base substitution C G intron_variant BRCA-FR 6 112035747 112035747 single base substitution C G upstream_gene_variant BRCA-FR 6 112061890 112061890 single base substitution C G intron_variant BRCA-FR 6 112065448 112065448 single base substitution C T intron_variant BRCA-FR 6 112075274 112075274 single base substitution T G intron_variant BRCA-FR 6 112080549 112080549 single base substitution C A intron_variant BRCA-FR 6 112080549 112080549 single base substitution C A upstream_gene_variant BRCA-FR 6 112086458 112086458 single base substitution C A intron_variant BRCA-FR 6 112105619 112105619 single base substitution C G intron_variant BRCA-FR 6 112105619 112105619 single base substitution C G upstream_gene_variant BRCA-FR 6 112120114 112120114 single base substitution C T intron_variant BRCA-FR 6 112120114 112120114 single base substitution C T upstream_gene_variant BRCA-FR 6 112125686 112125686 single base substitution T A intron_variant BRCA-FR 6 112125720 112125720 single base substitution C G intron_variant BRCA-FR 6 112139563 112139563 single base substitution C G intron_variant BRCA-FR 6 112150691 112150691 single base substitution C A intron_variant BRCA-FR 6 112150715 112150715 single base substitution A T intron_variant BRCA-FR 6 112160906 112160906 single base substitution G C intron_variant BRCA-FR 6 112173253 112173253 single base substitution A T intron_variant BRCA-FR 6 112189522 112189522 single base substitution C T intron_variant BRCA-FR 6 112192343 112192343 single base substitution G A intron_variant BRCA-KR 6 112021299 112021299 single base substitution C T downstream_gene_variant BRCA-KR 6 112021299 112021299 single base substitution C T exon_variant BRCA-KR 6 112021299 112021299 single base substitution C T intron_variant BRCA-KR 6 112021299 112021299 single base substitution C T splice_region_variant BRCA-KR 6 112021299 112021299 single base substitution C T upstream_gene_variant BRCA-UK 6 111999240 111999241 deletion of <=200bp TG - intron_variant BRCA-UK 6 111999240 111999241 deletion of <=200bp TG - upstream_gene_variant BRCA-UK 6 112000070 112000070 single base substitution C T intron_variant BRCA-UK 6 112000070 112000070 single base substitution C T upstream_gene_variant BRCA-UK 6 112033227 112033227 single base substitution G A downstream_gene_variant BRCA-UK 6 112033227 112033227 single base substitution G A intron_variant BRCA-UK 6 112033227 112033227 single base substitution G A upstream_gene_variant BRCA-UK 6 112036237 112036237 single base substitution A C downstream_gene_variant BRCA-UK 6 112036237 112036237 single base substitution A C intron_variant BRCA-UK 6 112036237 112036237 single base substitution A C upstream_gene_variant BRCA-UK 6 112054677 112054677 single base substitution G A intron_variant BRCA-UK 6 112059602 112059602 single base substitution C G intron_variant BRCA-UK 6 112073123 112073123 single base substitution C G intron_variant BRCA-UK 6 112096383 112096383 single base substitution G A intron_variant BRCA-UK 6 112135403 112135403 single base substitution C T intron_variant BRCA-UK 6 112143875 112143875 single base substitution C G intron_variant BRCA-UK 6 112143875 112143875 single base substitution C G upstream_gene_variant BRCA-UK 6 112147952 112147952 single base substitution C G intron_variant BRCA-UK 6 112148421 112148421 single base substitution G A intron_variant BRCA-UK 6 112151364 112151364 single base substitution C G intron_variant BRCA-UK 6 112193208 112193208 single base substitution C T intron_variant BRCA-UK 6 112197917 112197917 single base substitution C A upstream_gene_variant BRCA-US 6 112015900 112015900 single base substitution T C downstream_gene_variant BRCA-US 6 112015900 112015900 single base substitution T C exon_variant BRCA-US 6 112015900 112015900 single base substitution T C synonymous_variant L295L 885A>G BRCA-US 6 112015900 112015900 single base substitution T C synonymous_variant L298L 894A>G BRCA-US 6 112015900 112015900 single base substitution T C synonymous_variant L347L 1041A>G BRCA-US 6 112015900 112015900 single base substitution T C synonymous_variant L350L 1050A>G BTCA-JP 6 112025327 112025327 single base substitution G T downstream_gene_variant BTCA-JP 6 112025327 112025327 single base substitution G T intron_variant BTCA-JP 6 112025327 112025327 single base substitution G T upstream_gene_variant BTCA-JP 6 112041198 112041198 single base substitution G A exon_variant BTCA-JP 6 112041198 112041198 single base substitution G A synonymous_variant D19D 57C>T CESC-US 6 111983016 111983016 single base substitution C T exon_variant CESC-US 6 111983016 111983016 single base substitution C T missense_variant E459K 1375G>A CESC-US 6 111983016 111983016 single base substitution C T missense_variant E462K 1384G>A CESC-US 6 111983016 111983016 single base substitution C T missense_variant E511K 1531G>A CESC-US 6 111983016 111983016 single base substitution C T missense_variant E514K 1540G>A CESC-US 6 112025271 112025271 single base substitution C T downstream_gene_variant CESC-US 6 112025271 112025271 single base substitution C T exon_variant CESC-US 6 112025271 112025271 single base substitution C T missense_variant E111K 331G>A CESC-US 6 112025271 112025271 single base substitution C T missense_variant E160K 478G>A CESC-US 6 112025271 112025271 single base substitution C T upstream_gene_variant CESC-US 6 112029209 112029209 single base substitution C A downstream_gene_variant CESC-US 6 112029209 112029209 single base substitution C A exon_variant CESC-US 6 112029209 112029209 single base substitution C A intron_variant CESC-US 6 112029209 112029209 single base substitution C A missense_variant W120L 359G>T CESC-US 6 112029209 112029209 single base substitution C A upstream_gene_variant CESC-US 6 112041198 112041198 single base substitution G A exon_variant CESC-US 6 112041198 112041198 single base substitution G A synonymous_variant D19D 57C>T CLLE-ES 6 111979680 111979680 single base substitution G A downstream_gene_variant CLLE-ES 6 112014255 112014255 single base substitution G A downstream_gene_variant CLLE-ES 6 112014255 112014255 single base substitution G A intron_variant CLLE-ES 6 112016912 112016912 single base substitution T G downstream_gene_variant CLLE-ES 6 112016912 112016912 single base substitution T G intron_variant CLLE-ES 6 112065589 112065589 single base substitution C T intron_variant CLLE-ES 6 112066467 112066467 single base substitution A T intron_variant CLLE-ES 6 112090624 112090624 single base substitution T C intron_variant CLLE-ES 6 112186186 112186186 single base substitution T G intron_variant COAD-US 6 111983068 111983068 single base substitution A G exon_variant COAD-US 6 111983068 111983068 single base substitution A G synonymous_variant H441H 1323T>C COAD-US 6 111983068 111983068 single base substitution A G synonymous_variant H444H 1332T>C COAD-US 6 111983068 111983068 single base substitution A G synonymous_variant H493H 1479T>C COAD-US 6 111983068 111983068 single base substitution A G synonymous_variant H496H 1488T>C COAD-US 6 112020818 112020818 insertion of <=200bp - G downstream_gene_variant COAD-US 6 112020818 112020818 insertion of <=200bp - G frameshift_variant P202P? COAD-US 6 112020818 112020818 insertion of <=200bp - G frameshift_variant P251P? COAD-US 6 112020818 112020818 insertion of <=200bp - G intron_variant COAD-US 6 112020818 112020818 insertion of <=200bp - G upstream_gene_variant COAD-US 6 112020830 112020830 single base substitution C T downstream_gene_variant COAD-US 6 112020830 112020830 single base substitution C T intron_variant COAD-US 6 112020830 112020830 single base substitution C T synonymous_variant S198S 594G>A COAD-US 6 112020830 112020830 single base substitution C T synonymous_variant S247S 741G>A COAD-US 6 112020830 112020830 single base substitution C T upstream_gene_variant COAD-US 6 112024169 112024169 single base substitution G A downstream_gene_variant COAD-US 6 112024169 112024169 single base substitution G A exon_variant COAD-US 6 112024169 112024169 single base substitution G A missense_variant R157C 469C>T COAD-US 6 112024169 112024169 single base substitution G A missense_variant R206C 616C>T COAD-US 6 112024216 112024216 single base substitution C T downstream_gene_variant COAD-US 6 112024216 112024216 single base substitution C T exon_variant COAD-US 6 112024216 112024216 single base substitution C T missense_variant R141H 422G>A COAD-US 6 112024216 112024216 single base substitution C T missense_variant R190H 569G>A COAD-US 6 112024216 112024216 single base substitution C T upstream_gene_variant COAD-US 6 112025268 112025268 single base substitution G A downstream_gene_variant COAD-US 6 112025268 112025268 single base substitution G A exon_variant COAD-US 6 112025268 112025268 single base substitution G A stop_gained R112* 334C>T COAD-US 6 112025268 112025268 single base substitution G A stop_gained R161* 481C>T COAD-US 6 112025268 112025268 single base substitution G A upstream_gene_variant COAD-US 6 112041128 112041128 single base substitution C T exon_variant COAD-US 6 112041128 112041128 single base substitution C T missense_variant G43S 127G>A COCA-CN 6 111996291 111996291 single base substitution G A intron_variant COCA-CN 6 112024262 112024262 single base substitution A C downstream_gene_variant COCA-CN 6 112024262 112024262 single base substitution A C intron_variant COCA-CN 6 112024262 112024262 single base substitution A C upstream_gene_variant COCA-CN 6 112025379 112025379 single base substitution T C downstream_gene_variant COCA-CN 6 112025379 112025379 single base substitution T C intron_variant COCA-CN 6 112025379 112025379 single base substitution T C upstream_gene_variant COCA-CN 6 112034807 112034807 single base substitution C A downstream_gene_variant COCA-CN 6 112034807 112034807 single base substitution C A intron_variant COCA-CN 6 112034807 112034807 single base substitution C A upstream_gene_variant COCA-CN 6 112035415 112035415 single base substitution T G downstream_gene_variant COCA-CN 6 112035415 112035415 single base substitution T G intron_variant COCA-CN 6 112035549 112035549 single base substitution C T downstream_gene_variant COCA-CN 6 112035549 112035549 single base substitution C T intron_variant COCA-CN 6 112035549 112035549 single base substitution C T splice_donor_variant COCA-CN 6 112041241 112041241 single base substitution T C exon_variant COCA-CN 6 112041241 112041241 single base substitution T C missense_variant Q5R 14A>G COCA-CN 6 112046257 112046257 single base substitution T A intron_variant COCA-CN 6 112046257 112046257 single base substitution T A upstream_gene_variant COCA-CN 6 112085238 112085238 single base substitution A G intron_variant COCA-CN 6 112085238 112085238 single base substitution A G upstream_gene_variant COCA-CN 6 112085431 112085431 single base substitution A G intron_variant COCA-CN 6 112085431 112085431 single base substitution A G upstream_gene_variant COCA-CN 6 112091499 112091499 single base substitution T A intron_variant COCA-CN 6 112092249 112092249 single base substitution C A intron_variant COCA-CN 6 112093091 112093091 single base substitution C T intron_variant COCA-CN 6 112104229 112104229 single base substitution C T intron_variant COCA-CN 6 112104229 112104229 single base substitution C T upstream_gene_variant COCA-CN 6 112111394 112111394 single base substitution C A intron_variant COCA-CN 6 112111750 112111750 single base substitution C A intron_variant COCA-CN 6 112114648 112114648 single base substitution C T intron_variant COCA-CN 6 112142641 112142641 single base substitution G A intron_variant COCA-CN 6 112142641 112142641 single base substitution G A upstream_gene_variant COCA-CN 6 112142707 112142707 single base substitution C A intron_variant COCA-CN 6 112142707 112142707 single base substitution C A upstream_gene_variant COCA-CN 6 112142716 112142716 single base substitution C T intron_variant COCA-CN 6 112142716 112142716 single base substitution C T upstream_gene_variant COCA-CN 6 112197052 112197052 single base substitution C T upstream_gene_variant EOPC-DE 6 111978159 111978159 single base substitution A G downstream_gene_variant EOPC-DE 6 112007908 112007908 single base substitution G A intron_variant EOPC-DE 6 112020733 112020733 single base substitution C T downstream_gene_variant EOPC-DE 6 112020733 112020733 single base substitution C T intron_variant EOPC-DE 6 112020733 112020733 single base substitution C T missense_variant A231T 691G>A EOPC-DE 6 112020733 112020733 single base substitution C T missense_variant A280T 838G>A EOPC-DE 6 112020733 112020733 single base substitution C T upstream_gene_variant EOPC-DE 6 112174556 112174556 single base substitution A G intron_variant EOPC-DE 6 112181517 112181517 single base substitution C A intron_variant EOPC-DE 6 112181517 112181517 single base substitution C A upstream_gene_variant ESAD-UK 6 111976852 111976852 single base substitution C T downstream_gene_variant ESAD-UK 6 111978822 111978822 single base substitution C A downstream_gene_variant ESAD-UK 6 111981533 111981533 insertion of <=200bp - C downstream_gene_variant ESAD-UK 6 111984400 111984400 single base substitution G A intron_variant ESAD-UK 6 111986846 111986846 single base substitution A G intron_variant ESAD-UK 6 111987350 111987350 single base substitution C G intron_variant ESAD-UK 6 111989740 111989740 single base substitution G A intron_variant ESAD-UK 6 111990608 111990608 single base substitution C T intron_variant ESAD-UK 6 111993655 111993655 single base substitution C G downstream_gene_variant ESAD-UK 6 111993655 111993655 single base substitution C G intron_variant ESAD-UK 6 111995175 111995175 single base substitution G T downstream_gene_variant ESAD-UK 6 111995175 111995175 single base substitution G T intron_variant ESAD-UK 6 111997786 111997786 single base substitution A C intron_variant ESAD-UK 6 111997786 111997786 single base substitution A C upstream_gene_variant ESAD-UK 6 112000562 112000562 single base substitution C T intron_variant ESAD-UK 6 112000562 112000562 single base substitution C T upstream_gene_variant ESAD-UK 6 112001413 112001413 single base substitution T C intron_variant ESAD-UK 6 112001413 112001413 single base substitution T C upstream_gene_variant ESAD-UK 6 112002006 112002006 single base substitution T G intron_variant ESAD-UK 6 112002006 112002006 single base substitution T G upstream_gene_variant ESAD-UK 6 112002438 112002438 single base substitution T C intron_variant ESAD-UK 6 112002438 112002438 single base substitution T C upstream_gene_variant ESAD-UK 6 112002884 112002884 single base substitution C A intron_variant ESAD-UK 6 112008251 112008251 single base substitution T C intron_variant ESAD-UK 6 112009540 112009540 single base substitution C G intron_variant ESAD-UK 6 112011959 112011959 single base substitution A G intron_variant ESAD-UK 6 112013284 112013284 single base substitution C T downstream_gene_variant ESAD-UK 6 112013284 112013284 single base substitution C T intron_variant ESAD-UK 6 112019938 112019938 single base substitution C T downstream_gene_variant ESAD-UK 6 112019938 112019938 single base substitution C T intron_variant ESAD-UK 6 112019938 112019938 single base substitution C T upstream_gene_variant ESAD-UK 6 112022297 112022297 single base substitution G A downstream_gene_variant ESAD-UK 6 112022297 112022297 single base substitution G A intron_variant ESAD-UK 6 112022297 112022297 single base substitution G A upstream_gene_variant ESAD-UK 6 112024217 112024217 single base substitution G A downstream_gene_variant ESAD-UK 6 112024217 112024217 single base substitution G A exon_variant ESAD-UK 6 112024217 112024217 single base substitution G A missense_variant R141C 421C>T ESAD-UK 6 112024217 112024217 single base substitution G A missense_variant R190C 568C>T ESAD-UK 6 112024217 112024217 single base substitution G A upstream_gene_variant ESAD-UK 6 112024790 112024790 single base substitution T G downstream_gene_variant ESAD-UK 6 112024790 112024790 single base substitution T G intron_variant ESAD-UK 6 112024790 112024790 single base substitution T G upstream_gene_variant ESAD-UK 6 112026648 112026648 single base substitution G C downstream_gene_variant ESAD-UK 6 112026648 112026648 single base substitution G C intron_variant ESAD-UK 6 112026648 112026648 single base substitution G C upstream_gene_variant ESAD-UK 6 112027715 112027715 single base substitution C T downstream_gene_variant ESAD-UK 6 112027715 112027715 single base substitution C T intron_variant ESAD-UK 6 112027715 112027715 single base substitution C T upstream_gene_variant ESAD-UK 6 112027936 112027936 single base substitution A G downstream_gene_variant ESAD-UK 6 112027936 112027936 single base substitution A G intron_variant ESAD-UK 6 112027936 112027936 single base substitution A G upstream_gene_variant ESAD-UK 6 112030393 112030393 single base substitution T A intron_variant ESAD-UK 6 112030393 112030393 single base substitution T A upstream_gene_variant ESAD-UK 6 112030447 112030447 single base substitution A G intron_variant ESAD-UK 6 112030447 112030447 single base substitution A G upstream_gene_variant ESAD-UK 6 112031260 112031260 single base substitution A C downstream_gene_variant ESAD-UK 6 112031260 112031260 single base substitution A C intron_variant ESAD-UK 6 112031260 112031260 single base substitution A C upstream_gene_variant ESAD-UK 6 112036682 112036682 single base substitution C T downstream_gene_variant ESAD-UK 6 112036682 112036682 single base substitution C T intron_variant ESAD-UK 6 112036682 112036682 single base substitution C T upstream_gene_variant ESAD-UK 6 112037222 112037222 single base substitution A T downstream_gene_variant ESAD-UK 6 112037222 112037222 single base substitution A T intron_variant ESAD-UK 6 112037222 112037222 single base substitution A T upstream_gene_variant ESAD-UK 6 112043176 112043176 single base substitution G A intron_variant ESAD-UK 6 112043176 112043176 single base substitution G A upstream_gene_variant ESAD-UK 6 112043489 112043489 single base substitution T G intron_variant ESAD-UK 6 112043489 112043489 single base substitution T G upstream_gene_variant ESAD-UK 6 112043506 112043506 single base substitution G A intron_variant ESAD-UK 6 112043506 112043506 single base substitution G A upstream_gene_variant ESAD-UK 6 112046199 112046199 single base substitution G A intron_variant ESAD-UK 6 112046199 112046199 single base substitution G A upstream_gene_variant ESAD-UK 6 112046389 112046400 deletion of <=200bp TTTGCTACATTC - intron_variant ESAD-UK 6 112047238 112047238 single base substitution G A intron_variant ESAD-UK 6 112048117 112048117 single base substitution C T intron_variant ESAD-UK 6 112052162 112052162 single base substitution C T intron_variant ESAD-UK 6 112052307 112052307 single base substitution G C intron_variant ESAD-UK 6 112053077 112053077 single base substitution C T intron_variant ESAD-UK 6 112053532 112053532 single base substitution A C intron_variant ESAD-UK 6 112055296 112055296 single base substitution A T intron_variant ESAD-UK 6 112055866 112055866 single base substitution T C intron_variant ESAD-UK 6 112059155 112059155 single base substitution T A intron_variant ESAD-UK 6 112059490 112059490 single base substitution C T intron_variant ESAD-UK 6 112062181 112062181 single base substitution C A intron_variant ESAD-UK 6 112062181 112062181 single base substitution C A splice_region_variant ESAD-UK 6 112062745 112062745 single base substitution G A intron_variant ESAD-UK 6 112063336 112063336 single base substitution C T intron_variant ESAD-UK 6 112063844 112063844 single base substitution C T intron_variant ESAD-UK 6 112064696 112064696 single base substitution G T intron_variant ESAD-UK 6 112065090 112065090 single base substitution A T intron_variant ESAD-UK 6 112070095 112070095 single base substitution C A intron_variant ESAD-UK 6 112070123 112070123 single base substitution T C intron_variant ESAD-UK 6 112073047 112073047 single base substitution C T intron_variant ESAD-UK 6 112073287 112073287 deletion of <=200bp A - intron_variant ESAD-UK 6 112073292 112073292 single base substitution T G intron_variant ESAD-UK 6 112075885 112075885 single base substitution A T intron_variant ESAD-UK 6 112075885 112075885 single base substitution A T splice_region_variant ESAD-UK 6 112076669 112076669 single base substitution T C intron_variant ESAD-UK 6 112078153 112078153 single base substitution C T intron_variant ESAD-UK 6 112079173 112079173 deletion of <=200bp A - intron_variant ESAD-UK 6 112080075 112080075 single base substitution C T 5_prime_UTR_variant ESAD-UK 6 112080075 112080075 single base substitution C T intron_variant ESAD-UK 6 112080850 112080850 single base substitution T A intron_variant ESAD-UK 6 112080850 112080850 single base substitution T A upstream_gene_variant ESAD-UK 6 112083063 112083063 single base substitution G A intron_variant ESAD-UK 6 112083063 112083063 single base substitution G A upstream_gene_variant ESAD-UK 6 112083385 112083385 single base substitution C T intron_variant ESAD-UK 6 112083385 112083385 single base substitution C T upstream_gene_variant ESAD-UK 6 112084924 112084924 single base substitution T G intron_variant ESAD-UK 6 112084924 112084924 single base substitution T G upstream_gene_variant ESAD-UK 6 112085813 112085813 single base substitution C T intron_variant ESAD-UK 6 112085813 112085813 single base substitution C T upstream_gene_variant ESAD-UK 6 112091267 112091267 single base substitution T C intron_variant ESAD-UK 6 112092733 112092733 single base substitution C T intron_variant ESAD-UK 6 112092864 112092864 single base substitution C T intron_variant ESAD-UK 6 112096231 112096231 single base substitution C G intron_variant ESAD-UK 6 112096406 112096406 single base substitution T G intron_variant ESAD-UK 6 112099485 112099485 single base substitution T A intron_variant ESAD-UK 6 112099977 112099977 single base substitution G A intron_variant ESAD-UK 6 112101025 112101025 single base substitution C T intron_variant ESAD-UK 6 112106297 112106297 single base substitution T C intron_variant ESAD-UK 6 112106297 112106297 single base substitution T C upstream_gene_variant ESAD-UK 6 112106589 112106589 single base substitution T C intron_variant ESAD-UK 6 112106589 112106589 single base substitution T C upstream_gene_variant ESAD-UK 6 112109025 112109025 single base substitution G T intron_variant ESAD-UK 6 112114558 112114558 single base substitution T C intron_variant ESAD-UK 6 112118174 112118174 single base substitution C T intron_variant ESAD-UK 6 112118174 112118174 single base substitution C T upstream_gene_variant ESAD-UK 6 112119380 112119380 deletion of <=200bp A - intron_variant ESAD-UK 6 112119380 112119380 deletion of <=200bp A - upstream_gene_variant ESAD-UK 6 112121343 112121343 single base substitution T G intron_variant ESAD-UK 6 112121343 112121343 single base substitution T G upstream_gene_variant ESAD-UK 6 112122990 112122990 single base substitution T C intron_variant ESAD-UK 6 112122990 112122990 single base substitution T C upstream_gene_variant ESAD-UK 6 112123947 112123947 single base substitution T G intron_variant ESAD-UK 6 112123947 112123947 single base substitution T G upstream_gene_variant ESAD-UK 6 112125439 112125439 single base substitution G T intron_variant ESAD-UK 6 112127775 112127775 single base substitution C T intron_variant ESAD-UK 6 112127854 112127854 single base substitution A T intron_variant ESAD-UK 6 112128882 112128882 single base substitution T C intron_variant ESAD-UK 6 112129371 112129371 single base substitution C T intron_variant ESAD-UK 6 112129592 112129592 single base substitution C T intron_variant ESAD-UK 6 112133519 112133519 single base substitution A C intron_variant ESAD-UK 6 112136156 112136156 single base substitution T A intron_variant ESAD-UK 6 112137339 112137339 deletion of <=200bp T - intron_variant ESAD-UK 6 112139769 112139769 single base substitution C T intron_variant ESAD-UK 6 112139899 112139899 single base substitution C T exon_variant ESAD-UK 6 112139899 112139899 single base substitution C T intron_variant ESAD-UK 6 112142921 112142921 single base substitution T G intron_variant ESAD-UK 6 112142921 112142921 single base substitution T G upstream_gene_variant ESAD-UK 6 112144721 112144721 single base substitution T C intron_variant ESAD-UK 6 112144721 112144721 single base substitution T C upstream_gene_variant ESAD-UK 6 112146537 112146537 single base substitution T C intron_variant ESAD-UK 6 112147021 112147021 single base substitution A C intron_variant ESAD-UK 6 112147187 112147187 single base substitution G A intron_variant ESAD-UK 6 112147730 112147730 single base substitution C A intron_variant ESAD-UK 6 112150347 112150347 single base substitution T G intron_variant ESAD-UK 6 112151556 112151556 single base substitution C T intron_variant ESAD-UK 6 112151604 112151604 single base substitution G T intron_variant ESAD-UK 6 112151809 112151809 single base substitution C A intron_variant ESAD-UK 6 112153900 112153900 deletion of <=200bp T - intron_variant ESAD-UK 6 112154864 112154864 single base substitution C T intron_variant ESAD-UK 6 112157098 112157098 single base substitution C T intron_variant ESAD-UK 6 112157651 112157653 deletion of <=200bp CAA - intron_variant ESAD-UK 6 112160905 112160905 single base substitution A C intron_variant ESAD-UK 6 112161766 112161766 single base substitution A T intron_variant ESAD-UK 6 112164092 112164092 single base substitution A T intron_variant ESAD-UK 6 112166700 112166700 single base substitution A T intron_variant ESAD-UK 6 112166700 112166700 single base substitution A T upstream_gene_variant ESAD-UK 6 112167730 112167730 single base substitution C T intron_variant ESAD-UK 6 112167730 112167730 single base substitution C T upstream_gene_variant ESAD-UK 6 112167826 112167826 single base substitution A G 5_prime_UTR_variant ESAD-UK 6 112167826 112167826 single base substitution A G intron_variant ESAD-UK 6 112167826 112167826 single base substitution A G upstream_gene_variant ESAD-UK 6 112170987 112170987 single base substitution T G intron_variant ESAD-UK 6 112170987 112170987 single base substitution T G upstream_gene_variant ESAD-UK 6 112171815 112171815 single base substitution A G intron_variant ESAD-UK 6 112171815 112171815 single base substitution A G upstream_gene_variant ESAD-UK 6 112172521 112172521 single base substitution A T intron_variant ESAD-UK 6 112172521 112172521 single base substitution A T upstream_gene_variant ESAD-UK 6 112173585 112173585 single base substitution T A intron_variant ESAD-UK 6 112174521 112174521 single base substitution A G intron_variant ESAD-UK 6 112176398 112176398 insertion of <=200bp - T intron_variant ESAD-UK 6 112177618 112177618 single base substitution C T intron_variant ESAD-UK 6 112178369 112178369 single base substitution C T intron_variant ESAD-UK 6 112178900 112178900 single base substitution A G intron_variant ESAD-UK 6 112179234 112179234 single base substitution C T intron_variant ESAD-UK 6 112179682 112179682 single base substitution G C intron_variant ESAD-UK 6 112179682 112179682 single base substitution G C upstream_gene_variant ESAD-UK 6 112179859 112179859 single base substitution G A intron_variant ESAD-UK 6 112179859 112179859 single base substitution G A upstream_gene_variant ESAD-UK 6 112180773 112180773 single base substitution T G intron_variant ESAD-UK 6 112180773 112180773 single base substitution T G upstream_gene_variant ESAD-UK 6 112181226 112181226 single base substitution C T intron_variant ESAD-UK 6 112181226 112181226 single base substitution C T upstream_gene_variant ESAD-UK 6 112183730 112183730 single base substitution G A intron_variant ESAD-UK 6 112183730 112183730 single base substitution G A upstream_gene_variant ESAD-UK 6 112185039 112185039 single base substitution G T intron_variant ESAD-UK 6 112185881 112185881 single base substitution G A intron_variant ESAD-UK 6 112186458 112186458 single base substitution G T intron_variant ESAD-UK 6 112186743 112186743 single base substitution G A intron_variant ESAD-UK 6 112186860 112186860 single base substitution G C intron_variant ESAD-UK 6 112187611 112187611 single base substitution C T intron_variant ESAD-UK 6 112188361 112188361 single base substitution T G intron_variant ESAD-UK 6 112188490 112188490 single base substitution C T intron_variant ESAD-UK 6 112189910 112189910 single base substitution A T intron_variant ESAD-UK 6 112191201 112191201 single base substitution T C intron_variant ESAD-UK 6 112193854 112193854 single base substitution G A intron_variant ESAD-UK 6 112194118 112194118 single base substitution T C intron_variant ESAD-UK 6 112195066 112195066 single base substitution C G upstream_gene_variant ESAD-UK 6 112197198 112197198 insertion of <=200bp - T upstream_gene_variant ESAD-UK 6 112198720 112198720 single base substitution T G upstream_gene_variant GBM-US 6 112015863 112015863 single base substitution T C downstream_gene_variant GBM-US 6 112015863 112015863 single base substitution T C exon_variant GBM-US 6 112015863 112015863 single base substitution T C missense_variant K308E 922A>G GBM-US 6 112015863 112015863 single base substitution T C missense_variant K311E 931A>G GBM-US 6 112015863 112015863 single base substitution T C missense_variant K360E 1078A>G GBM-US 6 112015863 112015863 single base substitution T C missense_variant K363E 1087A>G KIRC-US 6 111983021 111983021 single base substitution G T exon_variant KIRC-US 6 111983021 111983021 single base substitution G T missense_variant T457N 1370C>A KIRC-US 6 111983021 111983021 single base substitution G T missense_variant T460N 1379C>A KIRC-US 6 111983021 111983021 single base substitution G T missense_variant T509N 1526C>A KIRC-US 6 111983021 111983021 single base substitution G T missense_variant T512N 1535C>A KIRC-US 6 112017520 112017520 single base substitution A T downstream_gene_variant KIRC-US 6 112017520 112017520 single base substitution A T exon_variant KIRC-US 6 112017520 112017520 single base substitution A T synonymous_variant S279S 837T>A KIRC-US 6 112017520 112017520 single base substitution A T synonymous_variant S282S 846T>A KIRC-US 6 112017520 112017520 single base substitution A T synonymous_variant S331S 993T>A KIRC-US 6 112017520 112017520 single base substitution A T synonymous_variant S334S 1002T>A LAML-KR 6 112133840 112133840 single base substitution A G intron_variant LICA-FR 6 111983124 111983124 single base substitution G A exon_variant LICA-FR 6 111983124 111983124 single base substitution G A stop_gained Q423* 1267C>T LICA-FR 6 111983124 111983124 single base substitution G A stop_gained Q426* 1276C>T LICA-FR 6 111983124 111983124 single base substitution G A stop_gained Q475* 1423C>T LICA-FR 6 111983124 111983124 single base substitution G A stop_gained Q478* 1432C>T LICA-FR 6 111984045 111984045 single base substitution T C intron_variant LICA-FR 6 111990142 111990142 single base substitution G A intron_variant LICA-FR 6 111990145 111990145 single base substitution A T intron_variant LICA-FR 6 112017002 112017002 single base substitution G A downstream_gene_variant LICA-FR 6 112017002 112017002 single base substitution G A intron_variant LICA-FR 6 112017548 112017548 single base substitution T G downstream_gene_variant LICA-FR 6 112017548 112017548 single base substitution T G exon_variant LICA-FR 6 112017548 112017548 single base substitution T G missense_variant K270T 809A>C LICA-FR 6 112017548 112017548 single base substitution T G missense_variant K273T 818A>C LICA-FR 6 112017548 112017548 single base substitution T G missense_variant K322T 965A>C LICA-FR 6 112017548 112017548 single base substitution T G missense_variant K325T 974A>C LICA-FR 6 112040238 112040238 single base substitution A G downstream_gene_variant LICA-FR 6 112040238 112040238 single base substitution A G intron_variant LICA-FR 6 112040238 112040238 single base substitution A G upstream_gene_variant LICA-FR 6 112071117 112071117 single base substitution G A intron_variant LICA-FR 6 112121932 112121932 single base substitution C T intron_variant LICA-FR 6 112121932 112121932 single base substitution C T upstream_gene_variant LICA-FR 6 112124767 112124767 single base substitution A C intron_variant LICA-FR 6 112133731 112133731 single base substitution T C intron_variant LIHC-US 6 111982951 111982951 single base substitution T G downstream_gene_variant LIHC-US 6 111982951 111982951 single base substitution T G exon_variant LIHC-US 6 111982951 111982951 single base substitution T G missense_variant E480D 1440A>C LIHC-US 6 111982951 111982951 single base substitution T G missense_variant E483D 1449A>C LIHC-US 6 111982951 111982951 single base substitution T G missense_variant E532D 1596A>C LIHC-US 6 111982951 111982951 single base substitution T G missense_variant E535D 1605A>C LIHC-US 6 112021440 112021440 single base substitution T C downstream_gene_variant LIHC-US 6 112021440 112021440 single base substitution T C exon_variant LIHC-US 6 112021440 112021440 single base substitution T C intron_variant LIHC-US 6 112021440 112021440 single base substitution T C synonymous_variant V243V 729A>G LIHC-US 6 112021440 112021440 single base substitution T C upstream_gene_variant LIHC-US 6 112035597 112035597 single base substitution A G downstream_gene_variant LIHC-US 6 112035597 112035597 single base substitution A G exon_variant LIHC-US 6 112035597 112035597 single base substitution A G splice_donor_variant LIHC-US 6 112035597 112035597 single base substitution A G synonymous_variant D99D 297T>C LINC-JP 6 111990664 111990664 single base substitution G A intron_variant LINC-JP 6 112006950 112006950 single base substitution G T intron_variant LINC-JP 6 112019494 112019494 single base substitution G A downstream_gene_variant LINC-JP 6 112019494 112019494 single base substitution G A intron_variant LINC-JP 6 112019494 112019494 single base substitution G A upstream_gene_variant LINC-JP 6 112048117 112048117 single base substitution C G intron_variant LINC-JP 6 112059059 112059059 single base substitution C T intron_variant LINC-JP 6 112061400 112061400 single base substitution C T intron_variant LINC-JP 6 112062733 112062733 single base substitution T C intron_variant LINC-JP 6 112071140 112071140 deletion of <=200bp A - intron_variant LINC-JP 6 112082474 112082474 single base substitution C A intron_variant LINC-JP 6 112082474 112082474 single base substitution C A upstream_gene_variant LINC-JP 6 112090729 112090729 single base substitution C T intron_variant LINC-JP 6 112113617 112113617 single base substitution C A intron_variant LINC-JP 6 112116242 112116242 single base substitution C A intron_variant LINC-JP 6 112116242 112116242 single base substitution C A upstream_gene_variant LINC-JP 6 112126412 112126412 single base substitution G A intron_variant LINC-JP 6 112126413 112126413 single base substitution C A intron_variant LINC-JP 6 112126698 112126698 single base substitution G A intron_variant LINC-JP 6 112133840 112133840 single base substitution A G intron_variant LINC-JP 6 112135403 112135403 single base substitution C G intron_variant LINC-JP 6 112137092 112137092 single base substitution G A intron_variant LINC-JP 6 112144829 112144829 single base substitution A G intron_variant LINC-JP 6 112144829 112144829 single base substitution A G upstream_gene_variant LINC-JP 6 112146946 112146946 single base substitution G T intron_variant LINC-JP 6 112153037 112153037 single base substitution C T intron_variant LINC-JP 6 112175896 112175896 single base substitution G A intron_variant LINC-JP 6 112194674 112194674 single base substitution G A upstream_gene_variant LIRI-JP 6 111977682 111977682 single base substitution C T downstream_gene_variant LIRI-JP 6 111977834 111977834 single base substitution T C downstream_gene_variant LIRI-JP 6 111978592 111978592 single base substitution C A downstream_gene_variant LIRI-JP 6 111981377 111981377 single base substitution G A downstream_gene_variant LIRI-JP 6 111982330 111982330 single base substitution C A 3_prime_UTR_variant LIRI-JP 6 111982330 111982330 single base substitution C A downstream_gene_variant LIRI-JP 6 111982877 111982877 single base substitution T C 3_prime_UTR_variant LIRI-JP 6 111982877 111982877 single base substitution T C downstream_gene_variant LIRI-JP 6 111982877 111982877 single base substitution T C exon_variant LIRI-JP 6 111983551 111983551 single base substitution G A intron_variant LIRI-JP 6 111984813 111984813 single base substitution G A intron_variant LIRI-JP 6 111984814 111984814 single base substitution C A intron_variant LIRI-JP 6 111985242 111985242 single base substitution C A intron_variant LIRI-JP 6 111986148 111986148 insertion of <=200bp - A intron_variant LIRI-JP 6 111990498 111990498 single base substitution C T intron_variant LIRI-JP 6 111990592 111990592 single base substitution C T intron_variant LIRI-JP 6 111996136 111996136 single base substitution A G intron_variant LIRI-JP 6 111996565 111996565 single base substitution G A intron_variant LIRI-JP 6 111996695 111996695 single base substitution A C intron_variant LIRI-JP 6 111996782 111996782 single base substitution G T intron_variant LIRI-JP 6 111997476 111997476 single base substitution G T intron_variant LIRI-JP 6 111998605 111998605 single base substitution T C intron_variant LIRI-JP 6 111998605 111998605 single base substitution T C upstream_gene_variant LIRI-JP 6 111999055 111999057 deletion of <=200bp TTC - intron_variant LIRI-JP 6 111999055 111999057 deletion of <=200bp TTC - upstream_gene_variant LIRI-JP 6 111999310 111999315 deletion of <=200bp TATGTG - intron_variant LIRI-JP 6 111999310 111999315 deletion of <=200bp TATGTG - upstream_gene_variant LIRI-JP 6 112003474 112003474 single base substitution C A intron_variant LIRI-JP 6 112004113 112004113 single base substitution T C intron_variant LIRI-JP 6 112004903 112004903 single base substitution A G intron_variant LIRI-JP 6 112005715 112005715 single base substitution G A intron_variant LIRI-JP 6 112008263 112008263 single base substitution T G intron_variant LIRI-JP 6 112008331 112008331 single base substitution T A intron_variant LIRI-JP 6 112008949 112008949 single base substitution T G intron_variant LIRI-JP 6 112008954 112008954 single base substitution T C intron_variant LIRI-JP 6 112008955 112008955 single base substitution T G intron_variant LIRI-JP 6 112012219 112012219 single base substitution T G intron_variant LIRI-JP 6 112013048 112013048 single base substitution G T downstream_gene_variant LIRI-JP 6 112013048 112013048 single base substitution G T intron_variant LIRI-JP 6 112016031 112016031 single base substitution G C downstream_gene_variant LIRI-JP 6 112016031 112016031 single base substitution G C intron_variant LIRI-JP 6 112016772 112016772 single base substitution T C downstream_gene_variant LIRI-JP 6 112016772 112016772 single base substitution T C intron_variant LIRI-JP 6 112017946 112017946 single base substitution G T downstream_gene_variant LIRI-JP 6 112017946 112017946 single base substitution G T exon_variant LIRI-JP 6 112017946 112017946 single base substitution G T intron_variant LIRI-JP 6 112017946 112017946 single base substitution G T upstream_gene_variant LIRI-JP 6 112018326 112018326 single base substitution G A downstream_gene_variant LIRI-JP 6 112018326 112018326 single base substitution G A intron_variant LIRI-JP 6 112018326 112018326 single base substitution G A upstream_gene_variant LIRI-JP 6 112021155 112021155 single base substitution T C downstream_gene_variant LIRI-JP 6 112021155 112021155 single base substitution T C exon_variant LIRI-JP 6 112021155 112021155 single base substitution T C intron_variant LIRI-JP 6 112021155 112021155 single base substitution T C upstream_gene_variant LIRI-JP 6 112021701 112021701 single base substitution G A downstream_gene_variant LIRI-JP 6 112021701 112021701 single base substitution G A intron_variant LIRI-JP 6 112021701 112021701 single base substitution G A upstream_gene_variant LIRI-JP 6 112025364 112025364 single base substitution G A downstream_gene_variant LIRI-JP 6 112025364 112025364 single base substitution G A intron_variant LIRI-JP 6 112025364 112025364 single base substitution G A upstream_gene_variant LIRI-JP 6 112027978 112027978 single base substitution A C downstream_gene_variant LIRI-JP 6 112027978 112027978 single base substitution A C intron_variant LIRI-JP 6 112027978 112027978 single base substitution A C upstream_gene_variant LIRI-JP 6 112030754 112030754 single base substitution G A downstream_gene_variant LIRI-JP 6 112030754 112030754 single base substitution G A intron_variant LIRI-JP 6 112030754 112030754 single base substitution G A upstream_gene_variant LIRI-JP 6 112030773 112030773 single base substitution A G downstream_gene_variant LIRI-JP 6 112030773 112030773 single base substitution A G intron_variant LIRI-JP 6 112030773 112030773 single base substitution A G upstream_gene_variant LIRI-JP 6 112033677 112033677 single base substitution C T downstream_gene_variant LIRI-JP 6 112033677 112033677 single base substitution C T intron_variant LIRI-JP 6 112033677 112033677 single base substitution C T upstream_gene_variant LIRI-JP 6 112038746 112038746 single base substitution C G downstream_gene_variant LIRI-JP 6 112038746 112038746 single base substitution C G intron_variant LIRI-JP 6 112038746 112038746 single base substitution C G upstream_gene_variant LIRI-JP 6 112038992 112038992 single base substitution C T downstream_gene_variant LIRI-JP 6 112038992 112038992 single base substitution C T intron_variant LIRI-JP 6 112038992 112038992 single base substitution C T upstream_gene_variant LIRI-JP 6 112039215 112039215 single base substitution A G downstream_gene_variant LIRI-JP 6 112039215 112039215 single base substitution A G intron_variant LIRI-JP 6 112039215 112039215 single base substitution A G upstream_gene_variant LIRI-JP 6 112039237 112039237 single base substitution C A downstream_gene_variant LIRI-JP 6 112039237 112039237 single base substitution C A intron_variant LIRI-JP 6 112039237 112039237 single base substitution C A upstream_gene_variant LIRI-JP 6 112039348 112039348 single base substitution C A downstream_gene_variant LIRI-JP 6 112039348 112039348 single base substitution C A intron_variant LIRI-JP 6 112039348 112039348 single base substitution C A upstream_gene_variant LIRI-JP 6 112043980 112043980 single base substitution G A intron_variant LIRI-JP 6 112043980 112043980 single base substitution G A upstream_gene_variant LIRI-JP 6 112044567 112044567 single base substitution T G intron_variant LIRI-JP 6 112044567 112044567 single base substitution T G upstream_gene_variant LIRI-JP 6 112044989 112044989 single base substitution C T intron_variant LIRI-JP 6 112044989 112044989 single base substitution C T upstream_gene_variant LIRI-JP 6 112045353 112045353 single base substitution A C intron_variant LIRI-JP 6 112045353 112045353 single base substitution A C upstream_gene_variant LIRI-JP 6 112046126 112046126 single base substitution C T intron_variant LIRI-JP 6 112046126 112046126 single base substitution C T upstream_gene_variant LIRI-JP 6 112048711 112048711 single base substitution C T intron_variant LIRI-JP 6 112049434 112049437 deletion of <=200bp AGAA - intron_variant LIRI-JP 6 112051139 112051139 single base substitution T A intron_variant LIRI-JP 6 112051734 112051734 single base substitution A G intron_variant LIRI-JP 6 112054427 112054427 single base substitution T A intron_variant LIRI-JP 6 112054592 112054592 single base substitution C G intron_variant LIRI-JP 6 112056401 112056401 single base substitution T C intron_variant LIRI-JP 6 112058121 112058121 single base substitution A G intron_variant LIRI-JP 6 112059181 112059181 single base substitution T C intron_variant LIRI-JP 6 112062986 112062986 single base substitution G T intron_variant LIRI-JP 6 112066388 112066388 single base substitution A G intron_variant LIRI-JP 6 112068322 112068322 single base substitution C T intron_variant LIRI-JP 6 112069316 112069316 single base substitution T A intron_variant LIRI-JP 6 112069489 112069489 single base substitution C A intron_variant LIRI-JP 6 112069692 112069692 single base substitution G A intron_variant LIRI-JP 6 112070839 112070839 single base substitution G C intron_variant LIRI-JP 6 112072124 112072124 single base substitution G A intron_variant LIRI-JP 6 112072485 112072485 single base substitution A T intron_variant LIRI-JP 6 112072534 112072534 single base substitution A T intron_variant LIRI-JP 6 112073553 112073553 single base substitution C G intron_variant LIRI-JP 6 112073670 112073670 single base substitution G A intron_variant LIRI-JP 6 112076312 112076312 deletion of <=200bp A - intron_variant LIRI-JP 6 112076335 112076335 single base substitution C A intron_variant LIRI-JP 6 112076601 112076601 single base substitution C A intron_variant LIRI-JP 6 112077240 112077240 single base substitution A T intron_variant LIRI-JP 6 112079919 112079919 single base substitution G A intron_variant LIRI-JP 6 112080967 112080967 single base substitution G A intron_variant LIRI-JP 6 112080967 112080967 single base substitution G A upstream_gene_variant LIRI-JP 6 112083456 112083456 single base substitution G T intron_variant LIRI-JP 6 112083456 112083456 single base substitution G T upstream_gene_variant LIRI-JP 6 112083457 112083457 single base substitution G T intron_variant LIRI-JP 6 112083457 112083457 single base substitution G T upstream_gene_variant LIRI-JP 6 112083724 112083724 single base substitution G C intron_variant LIRI-JP 6 112083724 112083724 single base substitution G C upstream_gene_variant LIRI-JP 6 112085703 112085703 single base substitution G T intron_variant LIRI-JP 6 112085703 112085703 single base substitution G T upstream_gene_variant LIRI-JP 6 112087416 112087416 single base substitution G A intron_variant LIRI-JP 6 112087670 112087670 single base substitution C T intron_variant LIRI-JP 6 112093953 112093953 single base substitution T C intron_variant LIRI-JP 6 112096125 112096125 single base substitution T C intron_variant LIRI-JP 6 112097032 112097032 single base substitution G T intron_variant LIRI-JP 6 112100943 112100943 single base substitution G A intron_variant LIRI-JP 6 112101692 112101692 single base substitution A T intron_variant LIRI-JP 6 112102029 112102029 single base substitution A G intron_variant LIRI-JP 6 112102388 112102388 single base substitution C T intron_variant LIRI-JP 6 112102388 112102388 single base substitution C T upstream_gene_variant LIRI-JP 6 112103078 112103078 single base substitution A T intron_variant LIRI-JP 6 112103078 112103078 single base substitution A T upstream_gene_variant LIRI-JP 6 112106022 112106022 single base substitution A T intron_variant LIRI-JP 6 112106022 112106022 single base substitution A T upstream_gene_variant LIRI-JP 6 112106843 112106843 single base substitution G A intron_variant LIRI-JP 6 112106843 112106843 single base substitution G A upstream_gene_variant LIRI-JP 6 112108416 112108416 single base substitution T C intron_variant LIRI-JP 6 112113013 112113013 single base substitution C T intron_variant LIRI-JP 6 112113688 112113688 single base substitution A G intron_variant LIRI-JP 6 112114706 112114706 single base substitution C A intron_variant LIRI-JP 6 112114788 112114788 single base substitution T A intron_variant LIRI-JP 6 112115348 112115348 single base substitution G A intron_variant LIRI-JP 6 112115348 112115348 single base substitution G A upstream_gene_variant LIRI-JP 6 112116212 112116212 single base substitution A C intron_variant LIRI-JP 6 112116212 112116212 single base substitution A C upstream_gene_variant LIRI-JP 6 112116950 112116950 single base substitution T C intron_variant LIRI-JP 6 112116950 112116950 single base substitution T C upstream_gene_variant LIRI-JP 6 112118550 112118562 deletion of <=200bp AATTTTTCCTAAG - intron_variant LIRI-JP 6 112118550 112118562 deletion of <=200bp AATTTTTCCTAAG - upstream_gene_variant LIRI-JP 6 112122112 112122112 single base substitution C T intron_variant LIRI-JP 6 112122112 112122112 single base substitution C T upstream_gene_variant LIRI-JP 6 112123953 112123953 single base substitution G A intron_variant LIRI-JP 6 112123953 112123953 single base substitution G A upstream_gene_variant LIRI-JP 6 112124701 112124701 single base substitution A G intron_variant LIRI-JP 6 112125443 112125443 single base substitution G A intron_variant LIRI-JP 6 112126592 112126592 single base substitution A T intron_variant LIRI-JP 6 112126935 112126935 single base substitution A G intron_variant LIRI-JP 6 112128128 112128128 single base substitution G T intron_variant LIRI-JP 6 112128413 112128413 single base substitution A G intron_variant LIRI-JP 6 112128848 112128848 single base substitution G C intron_variant LIRI-JP 6 112129287 112129287 single base substitution G A intron_variant LIRI-JP 6 112129844 112129844 single base substitution T C intron_variant LIRI-JP 6 112130292 112130292 single base substitution A T intron_variant LIRI-JP 6 112132136 112132136 single base substitution T C intron_variant LIRI-JP 6 112132375 112132375 single base substitution T A intron_variant LIRI-JP 6 112134011 112134011 single base substitution C A intron_variant LIRI-JP 6 112135549 112135549 single base substitution C T intron_variant LIRI-JP 6 112138298 112138298 single base substitution A G intron_variant LIRI-JP 6 112139546 112139546 single base substitution A C intron_variant LIRI-JP 6 112140128 112140128 single base substitution G A intron_variant LIRI-JP 6 112147013 112147013 single base substitution A G intron_variant LIRI-JP 6 112147789 112147789 single base substitution C A intron_variant LIRI-JP 6 112148339 112148339 single base substitution G A intron_variant LIRI-JP 6 112149103 112149103 single base substitution G A intron_variant LIRI-JP 6 112149104 112149104 single base substitution C T intron_variant LIRI-JP 6 112149197 112149197 single base substitution C A intron_variant LIRI-JP 6 112149210 112149210 single base substitution G A intron_variant LIRI-JP 6 112149586 112149586 single base substitution A G intron_variant LIRI-JP 6 112150366 112150366 single base substitution G C intron_variant LIRI-JP 6 112151606 112151606 single base substitution G A intron_variant LIRI-JP 6 112152538 112152538 single base substitution T C intron_variant LIRI-JP 6 112152561 112152561 single base substitution T C intron_variant LIRI-JP 6 112153325 112153325 single base substitution C A intron_variant LIRI-JP 6 112155759 112155759 single base substitution G T intron_variant LIRI-JP 6 112159058 112159058 single base substitution G A intron_variant LIRI-JP 6 112160343 112160343 single base substitution A G intron_variant LIRI-JP 6 112160409 112160409 single base substitution C T intron_variant LIRI-JP 6 112162554 112162554 single base substitution A G intron_variant LIRI-JP 6 112162932 112162932 single base substitution T C intron_variant LIRI-JP 6 112163095 112163109 deletion of <=200bp TATTACGCATGATAC - intron_variant LIRI-JP 6 112164182 112164182 single base substitution T C intron_variant LIRI-JP 6 112169716 112169716 single base substitution G A intron_variant LIRI-JP 6 112169716 112169716 single base substitution G A upstream_gene_variant LIRI-JP 6 112169759 112169759 single base substitution T C intron_variant LIRI-JP 6 112169759 112169759 single base substitution T C upstream_gene_variant LIRI-JP 6 112169921 112169921 single base substitution C A intron_variant LIRI-JP 6 112169921 112169921 single base substitution C A upstream_gene_variant LIRI-JP 6 112173238 112173238 single base substitution T C intron_variant LIRI-JP 6 112173985 112173985 single base substitution A G intron_variant LIRI-JP 6 112176164 112176164 single base substitution C T intron_variant LIRI-JP 6 112177304 112177304 single base substitution T G intron_variant LIRI-JP 6 112179815 112179815 single base substitution G A intron_variant LIRI-JP 6 112179815 112179815 single base substitution G A upstream_gene_variant LIRI-JP 6 112180150 112180150 single base substitution T A intron_variant LIRI-JP 6 112180150 112180150 single base substitution T A upstream_gene_variant LIRI-JP 6 112180178 112180178 single base substitution C T intron_variant LIRI-JP 6 112180178 112180178 single base substitution C T upstream_gene_variant LIRI-JP 6 112180756 112180756 single base substitution T C intron_variant LIRI-JP 6 112180756 112180756 single base substitution T C upstream_gene_variant LIRI-JP 6 112182220 112182220 single base substitution A G intron_variant LIRI-JP 6 112182220 112182220 single base substitution A G upstream_gene_variant LIRI-JP 6 112182303 112182303 single base substitution A G intron_variant LIRI-JP 6 112182303 112182303 single base substitution A G upstream_gene_variant LIRI-JP 6 112184684 112184684 single base substitution G A intron_variant LIRI-JP 6 112184949 112184949 single base substitution C G intron_variant LIRI-JP 6 112184997 112184997 single base substitution T C intron_variant LIRI-JP 6 112185256 112185256 single base substitution C A intron_variant LIRI-JP 6 112185776 112185776 single base substitution G T intron_variant LIRI-JP 6 112187109 112187109 single base substitution C T intron_variant LIRI-JP 6 112189000 112189000 single base substitution G A intron_variant LIRI-JP 6 112190778 112190778 single base substitution G A intron_variant LIRI-JP 6 112191516 112191516 single base substitution G C intron_variant LIRI-JP 6 112195200 112195200 single base substitution G A upstream_gene_variant LIRI-JP 6 112197805 112197805 single base substitution A C upstream_gene_variant LUSC-KR 6 111978119 111978119 single base substitution G C downstream_gene_variant LUSC-KR 6 111984280 111984280 single base substitution C T intron_variant LUSC-KR 6 111994102 111994102 single base substitution G A downstream_gene_variant LUSC-KR 6 111994102 111994102 single base substitution G A intron_variant LUSC-KR 6 111994391 111994391 single base substitution C T downstream_gene_variant LUSC-KR 6 111994391 111994391 single base substitution C T intron_variant LUSC-KR 6 111994589 111994589 single base substitution T G downstream_gene_variant LUSC-KR 6 111994589 111994589 single base substitution T G intron_variant LUSC-KR 6 111995666 111995666 single base substitution A G downstream_gene_variant LUSC-KR 6 111995666 111995666 single base substitution A G intron_variant LUSC-KR 6 111996950 111996950 single base substitution C A intron_variant LUSC-KR 6 111999290 111999290 single base substitution C G intron_variant LUSC-KR 6 111999290 111999290 single base substitution C G upstream_gene_variant LUSC-KR 6 111999470 111999470 single base substitution T C intron_variant LUSC-KR 6 111999470 111999470 single base substitution T C upstream_gene_variant LUSC-KR 6 112002390 112002390 single base substitution C A intron_variant LUSC-KR 6 112002390 112002390 single base substitution C A upstream_gene_variant LUSC-KR 6 112005397 112005397 single base substitution A C intron_variant LUSC-KR 6 112010127 112010127 single base substitution C T intron_variant LUSC-KR 6 112013131 112013131 single base substitution C A downstream_gene_variant LUSC-KR 6 112013131 112013131 single base substitution C A intron_variant LUSC-KR 6 112023286 112023286 single base substitution C A downstream_gene_variant LUSC-KR 6 112023286 112023286 single base substitution C A intron_variant LUSC-KR 6 112024262 112024262 single base substitution A C downstream_gene_variant LUSC-KR 6 112024262 112024262 single base substitution A C intron_variant LUSC-KR 6 112024262 112024262 single base substitution A C upstream_gene_variant LUSC-KR 6 112030967 112030967 single base substitution A G downstream_gene_variant LUSC-KR 6 112030967 112030967 single base substitution A G intron_variant LUSC-KR 6 112030967 112030967 single base substitution A G upstream_gene_variant LUSC-KR 6 112037262 112037262 single base substitution C T downstream_gene_variant LUSC-KR 6 112037262 112037262 single base substitution C T intron_variant LUSC-KR 6 112037262 112037262 single base substitution C T upstream_gene_variant LUSC-KR 6 112037349 112037349 single base substitution C T downstream_gene_variant LUSC-KR 6 112037349 112037349 single base substitution C T intron_variant LUSC-KR 6 112037349 112037349 single base substitution C T upstream_gene_variant LUSC-KR 6 112037718 112037718 single base substitution C A downstream_gene_variant LUSC-KR 6 112037718 112037718 single base substitution C A intron_variant LUSC-KR 6 112037718 112037718 single base substitution C A upstream_gene_variant LUSC-KR 6 112038498 112038498 single base substitution A G downstream_gene_variant LUSC-KR 6 112038498 112038498 single base substitution A G intron_variant LUSC-KR 6 112038498 112038498 single base substitution A G upstream_gene_variant LUSC-KR 6 112043162 112043162 single base substitution G T intron_variant LUSC-KR 6 112043162 112043162 single base substitution G T upstream_gene_variant LUSC-KR 6 112044900 112044900 single base substitution C A intron_variant LUSC-KR 6 112044900 112044900 single base substitution C A upstream_gene_variant LUSC-KR 6 112048458 112048458 single base substitution G T intron_variant LUSC-KR 6 112054299 112054299 single base substitution C T intron_variant LUSC-KR 6 112061955 112061955 single base substitution A C intron_variant LUSC-KR 6 112062036 112062036 single base substitution C G intron_variant LUSC-KR 6 112064043 112064043 single base substitution G T intron_variant LUSC-KR 6 112067501 112067501 single base substitution C A intron_variant LUSC-KR 6 112070686 112070686 single base substitution C T intron_variant LUSC-KR 6 112074002 112074002 single base substitution G A intron_variant LUSC-KR 6 112074980 112074980 single base substitution G A intron_variant LUSC-KR 6 112077417 112077417 single base substitution T A intron_variant LUSC-KR 6 112078354 112078354 single base substitution C T intron_variant LUSC-KR 6 112086655 112086655 single base substitution C T intron_variant LUSC-KR 6 112088911 112088911 single base substitution C A intron_variant LUSC-KR 6 112097216 112097216 single base substitution C G intron_variant LUSC-KR 6 112107499 112107499 single base substitution G T intron_variant LUSC-KR 6 112116964 112116964 single base substitution C A intron_variant LUSC-KR 6 112116964 112116964 single base substitution C A upstream_gene_variant LUSC-KR 6 112117316 112117316 single base substitution G T intron_variant LUSC-KR 6 112117316 112117316 single base substitution G T upstream_gene_variant LUSC-KR 6 112117396 112117396 single base substitution C G intron_variant LUSC-KR 6 112117396 112117396 single base substitution C G upstream_gene_variant LUSC-KR 6 112117785 112117785 single base substitution A C intron_variant LUSC-KR 6 112117785 112117785 single base substitution A C upstream_gene_variant LUSC-KR 6 112119810 112119810 single base substitution G C intron_variant LUSC-KR 6 112119810 112119810 single base substitution G C upstream_gene_variant LUSC-KR 6 112120784 112120784 single base substitution C G intron_variant LUSC-KR 6 112120784 112120784 single base substitution C G upstream_gene_variant LUSC-KR 6 112122554 112122554 single base substitution A G intron_variant LUSC-KR 6 112122554 112122554 single base substitution A G upstream_gene_variant LUSC-KR 6 112125213 112125213 single base substitution C A intron_variant LUSC-KR 6 112129939 112129939 single base substitution C A intron_variant LUSC-KR 6 112135063 112135063 single base substitution T C intron_variant LUSC-KR 6 112135612 112135612 single base substitution A G intron_variant LUSC-KR 6 112135920 112135920 single base substitution C G intron_variant LUSC-KR 6 112136591 112136591 single base substitution T C intron_variant LUSC-KR 6 112141007 112141007 single base substitution C A intron_variant LUSC-KR 6 112144219 112144219 single base substitution C T intron_variant LUSC-KR 6 112144219 112144219 single base substitution C T upstream_gene_variant LUSC-KR 6 112147898 112147898 single base substitution A C intron_variant LUSC-KR 6 112148100 112148100 single base substitution C T intron_variant LUSC-KR 6 112149842 112149842 single base substitution T A intron_variant LUSC-KR 6 112151220 112151220 single base substitution C A intron_variant LUSC-KR 6 112154286 112154286 single base substitution G A intron_variant LUSC-KR 6 112157507 112157507 single base substitution G C intron_variant LUSC-KR 6 112159034 112159034 single base substitution C A intron_variant LUSC-KR 6 112162450 112162450 single base substitution G A intron_variant LUSC-KR 6 112164119 112164119 single base substitution C G intron_variant LUSC-KR 6 112168882 112168882 single base substitution G A intron_variant LUSC-KR 6 112168882 112168882 single base substitution G A upstream_gene_variant LUSC-KR 6 112172560 112172560 single base substitution T A intron_variant LUSC-KR 6 112172560 112172560 single base substitution T A upstream_gene_variant LUSC-KR 6 112175875 112175875 single base substitution A T intron_variant LUSC-KR 6 112183029 112183029 single base substitution G T intron_variant LUSC-KR 6 112183029 112183029 single base substitution G T upstream_gene_variant LUSC-KR 6 112184728 112184728 single base substitution A G intron_variant LUSC-KR 6 112188653 112188653 single base substitution C A intron_variant LUSC-KR 6 112191351 112191351 single base substitution C A intron_variant LUSC-KR 6 112191760 112191760 single base substitution T A intron_variant LUSC-KR 6 112194716 112194716 single base substitution C A upstream_gene_variant LUSC-KR 6 112196793 112196793 single base substitution C A upstream_gene_variant LUSC-KR 6 112198890 112198890 single base substitution C G upstream_gene_variant LUSC-US 6 111995730 111995730 single base substitution C A exon_variant LUSC-US 6 111995730 111995730 single base substitution C A synonymous_variant L404L 1212G>T LUSC-US 6 111995730 111995730 single base substitution C A synonymous_variant L407L 1221G>T LUSC-US 6 111995730 111995730 single base substitution C A synonymous_variant L456L 1368G>T LUSC-US 6 111995730 111995730 single base substitution C A synonymous_variant L459L 1377G>T LUSC-US 6 111995731 111995731 single base substitution A G exon_variant LUSC-US 6 111995731 111995731 single base substitution A G missense_variant L404P 1211T>C LUSC-US 6 111995731 111995731 single base substitution A G missense_variant L407P 1220T>C LUSC-US 6 111995731 111995731 single base substitution A G missense_variant L456P 1367T>C LUSC-US 6 111995731 111995731 single base substitution A G missense_variant L459P 1376T>C LUSC-US 6 111995783 111995783 single base substitution T C exon_variant LUSC-US 6 111995783 111995783 single base substitution T C missense_variant R387G 1159A>G LUSC-US 6 111995783 111995783 single base substitution T C missense_variant R390G 1168A>G LUSC-US 6 111995783 111995783 single base substitution T C missense_variant R439G 1315A>G LUSC-US 6 111995783 111995783 single base substitution T C missense_variant R442G 1324A>G LUSC-US 6 112017519 112017519 single base substitution C G downstream_gene_variant LUSC-US 6 112017519 112017519 single base substitution C G exon_variant LUSC-US 6 112017519 112017519 single base substitution C G missense_variant E280Q 838G>C LUSC-US 6 112017519 112017519 single base substitution C G missense_variant E283Q 847G>C LUSC-US 6 112017519 112017519 single base substitution C G missense_variant E332Q 994G>C LUSC-US 6 112017519 112017519 single base substitution C G missense_variant E335Q 1003G>C LUSC-US 6 112035579 112035579 single base substitution T A downstream_gene_variant LUSC-US 6 112035579 112035579 single base substitution T A exon_variant LUSC-US 6 112035579 112035579 single base substitution T A intron_variant LUSC-US 6 112035579 112035579 single base substitution T A missense_variant K105N 315A>T LUSC-US 6 112041170 112041170 single base substitution G C exon_variant LUSC-US 6 112041170 112041170 single base substitution G C missense_variant R29G 85C>G MALY-DE 6 111980788 111980788 single base substitution T G downstream_gene_variant MALY-DE 6 111984613 111984613 single base substitution C G intron_variant MALY-DE 6 111986377 111986377 single base substitution A C intron_variant MALY-DE 6 111992631 111992631 single base substitution C T downstream_gene_variant MALY-DE 6 111992631 111992631 single base substitution C T intron_variant MALY-DE 6 111995519 111995519 single base substitution T G downstream_gene_variant MALY-DE 6 111995519 111995519 single base substitution T G intron_variant MALY-DE 6 111999312 111999313 deletion of <=200bp TG - intron_variant MALY-DE 6 111999312 111999313 deletion of <=200bp TG - upstream_gene_variant MALY-DE 6 112012481 112012481 single base substitution A G intron_variant MALY-DE 6 112019283 112019283 single base substitution T C downstream_gene_variant MALY-DE 6 112019283 112019283 single base substitution T C intron_variant MALY-DE 6 112019283 112019283 single base substitution T C upstream_gene_variant MALY-DE 6 112019812 112019812 single base substitution G C downstream_gene_variant MALY-DE 6 112019812 112019812 single base substitution G C intron_variant MALY-DE 6 112019812 112019812 single base substitution G C upstream_gene_variant MALY-DE 6 112036100 112036100 single base substitution G T downstream_gene_variant MALY-DE 6 112036100 112036100 single base substitution G T intron_variant MALY-DE 6 112036100 112036100 single base substitution G T upstream_gene_variant MALY-DE 6 112050900 112050900 single base substitution A C intron_variant MALY-DE 6 112053651 112053651 single base substitution A G intron_variant MALY-DE 6 112071140 112071141 deletion of <=200bp AA - intron_variant MALY-DE 6 112076084 112076084 single base substitution T A intron_variant MALY-DE 6 112085394 112085394 single base substitution A G intron_variant MALY-DE 6 112085394 112085394 single base substitution A G upstream_gene_variant MALY-DE 6 112086053 112086053 single base substitution T C intron_variant MALY-DE 6 112086053 112086053 single base substitution T C upstream_gene_variant MALY-DE 6 112086074 112086074 single base substitution C T intron_variant MALY-DE 6 112086074 112086074 single base substitution C T upstream_gene_variant MALY-DE 6 112088382 112088382 single base substitution C T intron_variant MALY-DE 6 112095663 112095663 single base substitution A G intron_variant MALY-DE 6 112100465 112100465 single base substitution T C intron_variant MALY-DE 6 112111295 112111296 deletion of <=200bp TG - intron_variant MALY-DE 6 112112668 112112668 single base substitution A C intron_variant MALY-DE 6 112118059 112118059 single base substitution G A intron_variant MALY-DE 6 112118059 112118059 single base substitution G A upstream_gene_variant MALY-DE 6 112120720 112120720 single base substitution C A intron_variant MALY-DE 6 112120720 112120720 single base substitution C A upstream_gene_variant MALY-DE 6 112124572 112124572 single base substitution A C intron_variant MALY-DE 6 112124572 112124572 single base substitution A C upstream_gene_variant MALY-DE 6 112128411 112128411 single base substitution A T intron_variant MALY-DE 6 112128423 112128423 single base substitution G T intron_variant MALY-DE 6 112139390 112139390 single base substitution C G intron_variant MALY-DE 6 112147269 112147269 single base substitution A G intron_variant MALY-DE 6 112147992 112147992 single base substitution G T intron_variant MALY-DE 6 112153363 112153363 single base substitution G A intron_variant MALY-DE 6 112162281 112162281 single base substitution T C intron_variant MALY-DE 6 112164085 112164085 single base substitution C T intron_variant MALY-DE 6 112173348 112173348 deletion of <=200bp G - intron_variant MALY-DE 6 112173888 112173888 deletion of <=200bp A - intron_variant MALY-DE 6 112174242 112174242 single base substitution G A intron_variant MALY-DE 6 112177641 112177644 deletion of <=200bp GTTA - intron_variant MALY-DE 6 112182542 112182542 single base substitution C T intron_variant MALY-DE 6 112182542 112182542 single base substitution C T upstream_gene_variant MALY-DE 6 112186845 112186845 insertion of <=200bp - A intron_variant MALY-DE 6 112188525 112188525 single base substitution T C intron_variant MALY-DE 6 112190272 112190272 deletion of <=200bp A - intron_variant MELA-AU 6 111976774 111976774 single base substitution G A downstream_gene_variant MELA-AU 6 111977041 111977041 single base substitution G A downstream_gene_variant MELA-AU 6 111978367 111978367 single base substitution T C downstream_gene_variant MELA-AU 6 111979171 111979171 single base substitution G A downstream_gene_variant MELA-AU 6 111979904 111979904 single base substitution G A downstream_gene_variant MELA-AU 6 111980082 111980082 single base substitution G A downstream_gene_variant MELA-AU 6 111980637 111980637 single base substitution C T downstream_gene_variant MELA-AU 6 111980683 111980683 single base substitution A G downstream_gene_variant MELA-AU 6 111981377 111981377 single base substitution G A downstream_gene_variant MELA-AU 6 111981678 111981678 single base substitution G A 3_prime_UTR_variant MELA-AU 6 111981678 111981678 single base substitution G A downstream_gene_variant MELA-AU 6 111981761 111981762 multiple base substitution (>=2bp and <=200bp) GT AG 3_prime_UTR_variant MELA-AU 6 111981761 111981762 multiple base substitution (>=2bp and <=200bp) GT AG downstream_gene_variant MELA-AU 6 111982981 111982981 single base substitution G C exon_variant MELA-AU 6 111982981 111982981 single base substitution G C synonymous_variant T470T 1410C>G MELA-AU 6 111982981 111982981 single base substitution G C synonymous_variant T473T 1419C>G MELA-AU 6 111982981 111982981 single base substitution G C synonymous_variant T522T 1566C>G MELA-AU 6 111982981 111982981 single base substitution G C synonymous_variant T525T 1575C>G MELA-AU 6 111983393 111983393 single base substitution G A intron_variant MELA-AU 6 111983484 111983484 single base substitution G A intron_variant MELA-AU 6 111983512 111983512 single base substitution G A intron_variant MELA-AU 6 111983585 111983585 single base substitution G A intron_variant MELA-AU 6 111985138 111985138 single base substitution C T intron_variant MELA-AU 6 111985594 111985594 single base substitution A G intron_variant MELA-AU 6 111986045 111986045 single base substitution G A intron_variant MELA-AU 6 111986523 111986523 single base substitution G A intron_variant MELA-AU 6 111986737 111986737 single base substitution G A intron_variant MELA-AU 6 111986874 111986874 single base substitution G A intron_variant MELA-AU 6 111987845 111987846 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 111988579 111988579 single base substitution G A intron_variant MELA-AU 6 111988683 111988683 single base substitution C T intron_variant MELA-AU 6 111990066 111990066 single base substitution C T intron_variant MELA-AU 6 111990211 111990211 single base substitution G A intron_variant MELA-AU 6 111990252 111990252 single base substitution G A intron_variant MELA-AU 6 111990329 111990329 single base substitution G A intron_variant MELA-AU 6 111990361 111990361 single base substitution G A intron_variant MELA-AU 6 111991347 111991347 single base substitution C G downstream_gene_variant MELA-AU 6 111991347 111991347 single base substitution C G intron_variant MELA-AU 6 111993023 111993023 single base substitution G A downstream_gene_variant MELA-AU 6 111993023 111993023 single base substitution G A intron_variant MELA-AU 6 111993776 111993777 multiple base substitution (>=2bp and <=200bp) TA AT downstream_gene_variant MELA-AU 6 111993776 111993777 multiple base substitution (>=2bp and <=200bp) TA AT intron_variant MELA-AU 6 111993791 111993791 single base substitution A G downstream_gene_variant MELA-AU 6 111993791 111993791 single base substitution A G intron_variant MELA-AU 6 111994200 111994200 single base substitution G A downstream_gene_variant MELA-AU 6 111994200 111994200 single base substitution G A intron_variant MELA-AU 6 111994878 111994878 single base substitution G A downstream_gene_variant MELA-AU 6 111994878 111994878 single base substitution G A intron_variant MELA-AU 6 111995246 111995246 single base substitution G A downstream_gene_variant MELA-AU 6 111995246 111995246 single base substitution G A intron_variant MELA-AU 6 111995686 111995686 single base substitution G C exon_variant MELA-AU 6 111995686 111995686 single base substitution G C intron_variant MELA-AU 6 111996302 111996302 single base substitution C T intron_variant MELA-AU 6 111996650 111996650 single base substitution G A intron_variant MELA-AU 6 111996788 111996788 single base substitution G A intron_variant MELA-AU 6 111997044 111997044 single base substitution A T intron_variant MELA-AU 6 111997154 111997154 single base substitution G A intron_variant MELA-AU 6 111998022 111998022 single base substitution G A intron_variant MELA-AU 6 111998022 111998022 single base substitution G A upstream_gene_variant MELA-AU 6 111998382 111998382 single base substitution G A intron_variant MELA-AU 6 111998382 111998382 single base substitution G A upstream_gene_variant MELA-AU 6 111999202 111999202 single base substitution C T intron_variant MELA-AU 6 111999202 111999202 single base substitution C T upstream_gene_variant MELA-AU 6 111999423 111999423 single base substitution C G intron_variant MELA-AU 6 111999423 111999423 single base substitution C G upstream_gene_variant MELA-AU 6 112000369 112000369 single base substitution G A intron_variant MELA-AU 6 112000369 112000369 single base substitution G A upstream_gene_variant MELA-AU 6 112000983 112000983 single base substitution G A intron_variant MELA-AU 6 112000983 112000983 single base substitution G A upstream_gene_variant MELA-AU 6 112001270 112001270 single base substitution C A intron_variant MELA-AU 6 112001270 112001270 single base substitution C A upstream_gene_variant MELA-AU 6 112001762 112001762 single base substitution T G intron_variant MELA-AU 6 112001762 112001762 single base substitution T G upstream_gene_variant MELA-AU 6 112001971 112001971 single base substitution T A intron_variant MELA-AU 6 112001971 112001971 single base substitution T A upstream_gene_variant MELA-AU 6 112003167 112003167 insertion of <=200bp - TCTC intron_variant MELA-AU 6 112003618 112003618 single base substitution G A intron_variant MELA-AU 6 112004304 112004304 single base substitution G A intron_variant MELA-AU 6 112004345 112004345 single base substitution G A intron_variant MELA-AU 6 112004636 112004636 single base substitution A T intron_variant MELA-AU 6 112004688 112004688 single base substitution G A intron_variant MELA-AU 6 112005364 112005364 single base substitution G A intron_variant MELA-AU 6 112005524 112005524 single base substitution G A intron_variant MELA-AU 6 112005609 112005609 single base substitution G A intron_variant MELA-AU 6 112006456 112006456 single base substitution G A intron_variant MELA-AU 6 112007252 112007252 single base substitution G A intron_variant MELA-AU 6 112007262 112007262 single base substitution C T intron_variant MELA-AU 6 112008533 112008533 single base substitution C T intron_variant MELA-AU 6 112009438 112009438 single base substitution G A intron_variant MELA-AU 6 112010026 112010026 single base substitution G A intron_variant MELA-AU 6 112010993 112010994 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 6 112012195 112012195 single base substitution C T intron_variant MELA-AU 6 112012270 112012270 single base substitution G A intron_variant MELA-AU 6 112012841 112012841 single base substitution G T downstream_gene_variant MELA-AU 6 112012841 112012841 single base substitution G T intron_variant MELA-AU 6 112013394 112013394 single base substitution G A downstream_gene_variant MELA-AU 6 112013394 112013394 single base substitution G A intron_variant MELA-AU 6 112013411 112013411 single base substitution T A downstream_gene_variant MELA-AU 6 112013411 112013411 single base substitution T A intron_variant MELA-AU 6 112013592 112013592 single base substitution G A downstream_gene_variant MELA-AU 6 112013592 112013592 single base substitution G A intron_variant MELA-AU 6 112014210 112014210 single base substitution G A downstream_gene_variant MELA-AU 6 112014210 112014210 single base substitution G A intron_variant MELA-AU 6 112014560 112014560 single base substitution G A downstream_gene_variant MELA-AU 6 112014560 112014560 single base substitution G A intron_variant MELA-AU 6 112015241 112015241 single base substitution G A downstream_gene_variant MELA-AU 6 112015241 112015241 single base substitution G A intron_variant MELA-AU 6 112015736 112015736 single base substitution G A downstream_gene_variant MELA-AU 6 112015736 112015736 single base substitution G A splice_region_variant MELA-AU 6 112016295 112016295 single base substitution A T downstream_gene_variant MELA-AU 6 112016295 112016295 single base substitution A T intron_variant MELA-AU 6 112016951 112016951 single base substitution G A downstream_gene_variant MELA-AU 6 112016951 112016951 single base substitution G A intron_variant MELA-AU 6 112018326 112018326 single base substitution G A downstream_gene_variant MELA-AU 6 112018326 112018326 single base substitution G A intron_variant MELA-AU 6 112018326 112018326 single base substitution G A upstream_gene_variant MELA-AU 6 112018672 112018672 single base substitution G A downstream_gene_variant MELA-AU 6 112018672 112018672 single base substitution G A intron_variant MELA-AU 6 112018672 112018672 single base substitution G A upstream_gene_variant MELA-AU 6 112019660 112019660 single base substitution G A downstream_gene_variant MELA-AU 6 112019660 112019660 single base substitution G A intron_variant MELA-AU 6 112019660 112019660 single base substitution G A upstream_gene_variant MELA-AU 6 112020010 112020010 single base substitution G A downstream_gene_variant MELA-AU 6 112020010 112020010 single base substitution G A intron_variant MELA-AU 6 112020010 112020010 single base substitution G A upstream_gene_variant MELA-AU 6 112020043 112020053 deletion of <=200bp TTTGGGAGGAT - downstream_gene_variant MELA-AU 6 112020043 112020053 deletion of <=200bp TTTGGGAGGAT - intron_variant MELA-AU 6 112020043 112020053 deletion of <=200bp TTTGGGAGGAT - upstream_gene_variant MELA-AU 6 112021665 112021665 single base substitution G A downstream_gene_variant MELA-AU 6 112021665 112021665 single base substitution G A intron_variant MELA-AU 6 112021665 112021665 single base substitution G A upstream_gene_variant MELA-AU 6 112022085 112022085 single base substitution G A downstream_gene_variant MELA-AU 6 112022085 112022085 single base substitution G A intron_variant MELA-AU 6 112022085 112022085 single base substitution G A upstream_gene_variant MELA-AU 6 112022578 112022578 single base substitution G A downstream_gene_variant MELA-AU 6 112022578 112022578 single base substitution G A intron_variant MELA-AU 6 112022578 112022578 single base substitution G A upstream_gene_variant MELA-AU 6 112022608 112022608 single base substitution G C downstream_gene_variant MELA-AU 6 112022608 112022608 single base substitution G C intron_variant MELA-AU 6 112022608 112022608 single base substitution G C upstream_gene_variant MELA-AU 6 112022976 112022976 single base substitution G A downstream_gene_variant MELA-AU 6 112022976 112022976 single base substitution G A intron_variant MELA-AU 6 112022976 112022976 single base substitution G A upstream_gene_variant MELA-AU 6 112022992 112022992 single base substitution A G downstream_gene_variant MELA-AU 6 112022992 112022992 single base substitution A G intron_variant MELA-AU 6 112022992 112022992 single base substitution A G upstream_gene_variant MELA-AU 6 112023251 112023251 single base substitution G A downstream_gene_variant MELA-AU 6 112023251 112023251 single base substitution G A intron_variant MELA-AU 6 112024127 112024127 single base substitution G A downstream_gene_variant MELA-AU 6 112024127 112024127 single base substitution G A exon_variant MELA-AU 6 112024127 112024127 single base substitution G A stop_gained Q171* 511C>T MELA-AU 6 112024127 112024127 single base substitution G A stop_gained Q220* 658C>T MELA-AU 6 112025514 112025514 single base substitution A C downstream_gene_variant MELA-AU 6 112025514 112025514 single base substitution A C intron_variant MELA-AU 6 112025514 112025514 single base substitution A C upstream_gene_variant MELA-AU 6 112025771 112025771 single base substitution A G downstream_gene_variant MELA-AU 6 112025771 112025771 single base substitution A G intron_variant MELA-AU 6 112025771 112025771 single base substitution A G upstream_gene_variant MELA-AU 6 112026309 112026309 single base substitution T C downstream_gene_variant MELA-AU 6 112026309 112026309 single base substitution T C intron_variant MELA-AU 6 112026309 112026309 single base substitution T C upstream_gene_variant MELA-AU 6 112027028 112027028 single base substitution G A downstream_gene_variant MELA-AU 6 112027028 112027028 single base substitution G A intron_variant MELA-AU 6 112027028 112027028 single base substitution G A upstream_gene_variant MELA-AU 6 112027349 112027349 single base substitution C T downstream_gene_variant MELA-AU 6 112027349 112027349 single base substitution C T intron_variant MELA-AU 6 112027349 112027349 single base substitution C T upstream_gene_variant MELA-AU 6 112027454 112027454 single base substitution G A downstream_gene_variant MELA-AU 6 112027454 112027454 single base substitution G A intron_variant MELA-AU 6 112027454 112027454 single base substitution G A upstream_gene_variant MELA-AU 6 112028058 112028058 single base substitution T C downstream_gene_variant MELA-AU 6 112028058 112028058 single base substitution T C intron_variant MELA-AU 6 112028058 112028058 single base substitution T C upstream_gene_variant MELA-AU 6 112028162 112028162 single base substitution C T downstream_gene_variant MELA-AU 6 112028162 112028162 single base substitution C T intron_variant MELA-AU 6 112028162 112028162 single base substitution C T upstream_gene_variant MELA-AU 6 112028169 112028169 single base substitution G A downstream_gene_variant MELA-AU 6 112028169 112028169 single base substitution G A intron_variant MELA-AU 6 112028169 112028169 single base substitution G A upstream_gene_variant MELA-AU 6 112028180 112028180 single base substitution G A downstream_gene_variant MELA-AU 6 112028180 112028180 single base substitution G A intron_variant MELA-AU 6 112028180 112028180 single base substitution G A upstream_gene_variant MELA-AU 6 112028263 112028263 single base substitution G T downstream_gene_variant MELA-AU 6 112028263 112028263 single base substitution G T intron_variant MELA-AU 6 112028263 112028263 single base substitution G T upstream_gene_variant MELA-AU 6 112028288 112028288 single base substitution G A downstream_gene_variant MELA-AU 6 112028288 112028288 single base substitution G A intron_variant MELA-AU 6 112028288 112028288 single base substitution G A upstream_gene_variant MELA-AU 6 112028366 112028366 single base substitution C T downstream_gene_variant MELA-AU 6 112028366 112028366 single base substitution C T intron_variant MELA-AU 6 112028366 112028366 single base substitution C T upstream_gene_variant MELA-AU 6 112029495 112029495 single base substitution G A intron_variant MELA-AU 6 112029495 112029495 single base substitution G A upstream_gene_variant MELA-AU 6 112029988 112029988 single base substitution A C intron_variant MELA-AU 6 112029988 112029988 single base substitution A C upstream_gene_variant MELA-AU 6 112030725 112030725 single base substitution G A downstream_gene_variant MELA-AU 6 112030725 112030725 single base substitution G A intron_variant MELA-AU 6 112030725 112030725 single base substitution G A upstream_gene_variant MELA-AU 6 112031006 112031006 single base substitution G A downstream_gene_variant MELA-AU 6 112031006 112031006 single base substitution G A intron_variant MELA-AU 6 112031006 112031006 single base substitution G A upstream_gene_variant MELA-AU 6 112031273 112031273 single base substitution G A downstream_gene_variant MELA-AU 6 112031273 112031273 single base substitution G A intron_variant MELA-AU 6 112031273 112031273 single base substitution G A upstream_gene_variant MELA-AU 6 112031274 112031274 single base substitution G A downstream_gene_variant MELA-AU 6 112031274 112031274 single base substitution G A intron_variant MELA-AU 6 112031274 112031274 single base substitution G A upstream_gene_variant MELA-AU 6 112032658 112032659 multiple base substitution (>=2bp and <=200bp) TC GT downstream_gene_variant MELA-AU 6 112032658 112032659 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 6 112032658 112032659 multiple base substitution (>=2bp and <=200bp) TC GT upstream_gene_variant MELA-AU 6 112033501 112033501 single base substitution C T downstream_gene_variant MELA-AU 6 112033501 112033501 single base substitution C T intron_variant MELA-AU 6 112033501 112033501 single base substitution C T upstream_gene_variant MELA-AU 6 112033652 112033652 single base substitution C T downstream_gene_variant MELA-AU 6 112033652 112033652 single base substitution C T intron_variant MELA-AU 6 112033652 112033652 single base substitution C T upstream_gene_variant MELA-AU 6 112033677 112033677 single base substitution C T downstream_gene_variant MELA-AU 6 112033677 112033677 single base substitution C T intron_variant MELA-AU 6 112033677 112033677 single base substitution C T upstream_gene_variant MELA-AU 6 112033982 112033982 single base substitution G A downstream_gene_variant MELA-AU 6 112033982 112033982 single base substitution G A intron_variant MELA-AU 6 112033982 112033982 single base substitution G A upstream_gene_variant MELA-AU 6 112034707 112034707 single base substitution G A downstream_gene_variant MELA-AU 6 112034707 112034707 single base substitution G A intron_variant MELA-AU 6 112034707 112034707 single base substitution G A upstream_gene_variant MELA-AU 6 112035982 112035982 single base substitution G A downstream_gene_variant MELA-AU 6 112035982 112035982 single base substitution G A intron_variant MELA-AU 6 112035982 112035982 single base substitution G A upstream_gene_variant MELA-AU 6 112036053 112036054 multiple base substitution (>=2bp and <=200bp) GG AC downstream_gene_variant MELA-AU 6 112036053 112036054 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 6 112036053 112036054 multiple base substitution (>=2bp and <=200bp) GG AC upstream_gene_variant MELA-AU 6 112037061 112037061 single base substitution G A downstream_gene_variant MELA-AU 6 112037061 112037061 single base substitution G A intron_variant MELA-AU 6 112037061 112037061 single base substitution G A upstream_gene_variant MELA-AU 6 112037385 112037385 single base substitution G A downstream_gene_variant MELA-AU 6 112037385 112037385 single base substitution G A intron_variant MELA-AU 6 112037385 112037385 single base substitution G A upstream_gene_variant MELA-AU 6 112039094 112039094 single base substitution G A downstream_gene_variant MELA-AU 6 112039094 112039094 single base substitution G A intron_variant MELA-AU 6 112039094 112039094 single base substitution G A upstream_gene_variant MELA-AU 6 112040193 112040193 single base substitution G A downstream_gene_variant MELA-AU 6 112040193 112040193 single base substitution G A intron_variant MELA-AU 6 112040193 112040193 single base substitution G A upstream_gene_variant MELA-AU 6 112040469 112040469 single base substitution G A downstream_gene_variant MELA-AU 6 112040469 112040469 single base substitution G A intron_variant MELA-AU 6 112040469 112040469 single base substitution G A upstream_gene_variant MELA-AU 6 112040569 112040569 single base substitution A T downstream_gene_variant MELA-AU 6 112040569 112040569 single base substitution A T intron_variant MELA-AU 6 112040569 112040569 single base substitution A T upstream_gene_variant MELA-AU 6 112040862 112040862 single base substitution A G downstream_gene_variant MELA-AU 6 112040862 112040862 single base substitution A G exon_variant MELA-AU 6 112040862 112040862 single base substitution A G intron_variant MELA-AU 6 112041266 112041266 single base substitution C T splice_acceptor_variant MELA-AU 6 112041266 112041266 single base substitution C T upstream_gene_variant MELA-AU 6 112042006 112042006 single base substitution T A intron_variant MELA-AU 6 112042006 112042006 single base substitution T A upstream_gene_variant MELA-AU 6 112042106 112042106 single base substitution A T intron_variant MELA-AU 6 112042106 112042106 single base substitution A T upstream_gene_variant MELA-AU 6 112042399 112042399 single base substitution G A intron_variant MELA-AU 6 112042399 112042399 single base substitution G A upstream_gene_variant MELA-AU 6 112043105 112043105 single base substitution G A intron_variant MELA-AU 6 112043105 112043105 single base substitution G A upstream_gene_variant MELA-AU 6 112044624 112044624 single base substitution A G intron_variant MELA-AU 6 112044624 112044624 single base substitution A G upstream_gene_variant MELA-AU 6 112045835 112045835 single base substitution C T intron_variant MELA-AU 6 112045835 112045835 single base substitution C T upstream_gene_variant MELA-AU 6 112046199 112046199 single base substitution G A intron_variant MELA-AU 6 112046199 112046199 single base substitution G A upstream_gene_variant MELA-AU 6 112046906 112046906 single base substitution G A intron_variant MELA-AU 6 112047164 112047164 single base substitution G A intron_variant MELA-AU 6 112047595 112047595 single base substitution G A intron_variant MELA-AU 6 112047729 112047729 single base substitution G A intron_variant MELA-AU 6 112048357 112048357 single base substitution C T intron_variant MELA-AU 6 112049254 112049254 single base substitution G A intron_variant MELA-AU 6 112049534 112049534 single base substitution A T intron_variant MELA-AU 6 112050326 112050326 single base substitution G A intron_variant MELA-AU 6 112051624 112051624 single base substitution T G intron_variant MELA-AU 6 112053628 112053628 single base substitution G A intron_variant MELA-AU 6 112053629 112053629 single base substitution G A intron_variant MELA-AU 6 112054239 112054239 single base substitution G A intron_variant MELA-AU 6 112054504 112054504 single base substitution G A intron_variant MELA-AU 6 112056366 112056366 single base substitution G A intron_variant MELA-AU 6 112057423 112057423 single base substitution G A intron_variant MELA-AU 6 112057675 112057675 single base substitution G A intron_variant MELA-AU 6 112058595 112058595 single base substitution G T intron_variant MELA-AU 6 112058694 112058694 single base substitution T A intron_variant MELA-AU 6 112060343 112060343 single base substitution G A intron_variant MELA-AU 6 112061555 112061555 single base substitution G A intron_variant MELA-AU 6 112061869 112061869 single base substitution G A intron_variant MELA-AU 6 112063013 112063013 single base substitution G A intron_variant MELA-AU 6 112064571 112064571 single base substitution G A intron_variant MELA-AU 6 112064710 112064710 single base substitution G A intron_variant MELA-AU 6 112064757 112064757 single base substitution C T intron_variant MELA-AU 6 112066496 112066496 single base substitution C T intron_variant MELA-AU 6 112067347 112067347 single base substitution G A intron_variant MELA-AU 6 112067465 112067465 single base substitution A C intron_variant MELA-AU 6 112068030 112068030 single base substitution G A intron_variant MELA-AU 6 112068655 112068655 single base substitution A C intron_variant MELA-AU 6 112069041 112069041 single base substitution G A intron_variant MELA-AU 6 112069551 112069551 single base substitution G A intron_variant MELA-AU 6 112069797 112069797 single base substitution C T intron_variant MELA-AU 6 112069906 112069906 single base substitution G A intron_variant MELA-AU 6 112069961 112069961 single base substitution G A intron_variant MELA-AU 6 112070211 112070211 single base substitution G A intron_variant MELA-AU 6 112071050 112071050 single base substitution G A intron_variant MELA-AU 6 112071671 112071671 single base substitution A G intron_variant MELA-AU 6 112072023 112072023 single base substitution G A intron_variant MELA-AU 6 112072427 112072427 single base substitution A T intron_variant MELA-AU 6 112073656 112073656 single base substitution C T intron_variant MELA-AU 6 112073791 112073791 single base substitution G A intron_variant MELA-AU 6 112073899 112073899 single base substitution G A intron_variant MELA-AU 6 112073934 112073934 single base substitution G A intron_variant MELA-AU 6 112074088 112074088 single base substitution G A intron_variant MELA-AU 6 112074096 112074096 single base substitution G A intron_variant MELA-AU 6 112074708 112074708 single base substitution T C intron_variant MELA-AU 6 112074742 112074742 single base substitution G T intron_variant MELA-AU 6 112075448 112075448 single base substitution G A intron_variant MELA-AU 6 112075475 112075475 single base substitution G A intron_variant MELA-AU 6 112075574 112075574 single base substitution C T intron_variant MELA-AU 6 112075888 112075888 single base substitution G A intron_variant MELA-AU 6 112075888 112075888 single base substitution G A splice_region_variant MELA-AU 6 112076069 112076069 single base substitution A G intron_variant MELA-AU 6 112076728 112076728 single base substitution G A intron_variant MELA-AU 6 112076781 112076781 single base substitution G A intron_variant MELA-AU 6 112077046 112077046 single base substitution C T intron_variant MELA-AU 6 112080077 112080077 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 6 112080077 112080077 single base substitution G A intron_variant MELA-AU 6 112080714 112080714 single base substitution G A intron_variant MELA-AU 6 112080714 112080714 single base substitution G A upstream_gene_variant MELA-AU 6 112080966 112080966 single base substitution C T intron_variant MELA-AU 6 112080966 112080966 single base substitution C T upstream_gene_variant MELA-AU 6 112084909 112084909 single base substitution T C intron_variant MELA-AU 6 112084909 112084909 single base substitution T C upstream_gene_variant MELA-AU 6 112085818 112085818 single base substitution T C intron_variant MELA-AU 6 112085818 112085818 single base substitution T C upstream_gene_variant MELA-AU 6 112086778 112086778 single base substitution G A intron_variant MELA-AU 6 112087906 112087906 single base substitution G A intron_variant MELA-AU 6 112088282 112088282 single base substitution C T intron_variant MELA-AU 6 112088324 112088324 single base substitution T A intron_variant MELA-AU 6 112088598 112088598 single base substitution G A intron_variant MELA-AU 6 112089809 112089809 single base substitution G A intron_variant MELA-AU 6 112092249 112092249 single base substitution C T intron_variant MELA-AU 6 112093164 112093164 single base substitution G A intron_variant MELA-AU 6 112093325 112093325 single base substitution G A intron_variant MELA-AU 6 112093443 112093443 single base substitution G A intron_variant MELA-AU 6 112093580 112093580 single base substitution C T intron_variant MELA-AU 6 112094210 112094210 single base substitution T G intron_variant MELA-AU 6 112094289 112094289 single base substitution T C intron_variant MELA-AU 6 112095844 112095844 single base substitution A G intron_variant MELA-AU 6 112097127 112097127 single base substitution G A intron_variant MELA-AU 6 112097205 112097205 single base substitution C T intron_variant MELA-AU 6 112097946 112097946 single base substitution G A intron_variant MELA-AU 6 112099078 112099078 single base substitution C T intron_variant MELA-AU 6 112099197 112099197 single base substitution C A intron_variant MELA-AU 6 112100638 112100638 single base substitution G A intron_variant MELA-AU 6 112106258 112106258 single base substitution G A intron_variant MELA-AU 6 112106258 112106258 single base substitution G A upstream_gene_variant MELA-AU 6 112106852 112106852 single base substitution G A intron_variant MELA-AU 6 112106852 112106852 single base substitution G A upstream_gene_variant MELA-AU 6 112106853 112106853 single base substitution G A intron_variant MELA-AU 6 112106853 112106853 single base substitution G A upstream_gene_variant MELA-AU 6 112107191 112107192 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 112107191 112107192 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 112108501 112108501 single base substitution C T intron_variant MELA-AU 6 112108920 112108920 single base substitution C A intron_variant MELA-AU 6 112111295 112111296 deletion of <=200bp TG - intron_variant MELA-AU 6 112111922 112111922 single base substitution G A intron_variant MELA-AU 6 112112671 112112671 single base substitution T A intron_variant MELA-AU 6 112112947 112112947 single base substitution G C intron_variant MELA-AU 6 112113746 112113746 deletion of <=200bp C - intron_variant MELA-AU 6 112113912 112113912 single base substitution A C intron_variant MELA-AU 6 112114163 112114163 single base substitution G A intron_variant MELA-AU 6 112114660 112114660 single base substitution C T intron_variant MELA-AU 6 112115192 112115192 single base substitution G C intron_variant MELA-AU 6 112115192 112115192 single base substitution G C upstream_gene_variant MELA-AU 6 112116022 112116022 single base substitution C T intron_variant MELA-AU 6 112116022 112116022 single base substitution C T upstream_gene_variant MELA-AU 6 112116063 112116063 single base substitution C T intron_variant MELA-AU 6 112116063 112116063 single base substitution C T upstream_gene_variant MELA-AU 6 112116353 112116353 single base substitution G A intron_variant MELA-AU 6 112116353 112116353 single base substitution G A upstream_gene_variant MELA-AU 6 112116899 112116899 single base substitution G A intron_variant MELA-AU 6 112116899 112116899 single base substitution G A upstream_gene_variant MELA-AU 6 112118112 112118112 single base substitution C T intron_variant MELA-AU 6 112118112 112118112 single base substitution C T upstream_gene_variant MELA-AU 6 112118916 112118916 single base substitution C T intron_variant MELA-AU 6 112118916 112118916 single base substitution C T upstream_gene_variant MELA-AU 6 112119030 112119030 single base substitution A C intron_variant MELA-AU 6 112119030 112119030 single base substitution A C upstream_gene_variant MELA-AU 6 112119089 112119089 single base substitution C T intron_variant MELA-AU 6 112119089 112119089 single base substitution C T upstream_gene_variant MELA-AU 6 112119730 112119730 single base substitution C T intron_variant MELA-AU 6 112119730 112119730 single base substitution C T upstream_gene_variant MELA-AU 6 112120470 112120470 single base substitution C T intron_variant MELA-AU 6 112120470 112120470 single base substitution C T upstream_gene_variant MELA-AU 6 112121752 112121752 single base substitution G A intron_variant MELA-AU 6 112121752 112121752 single base substitution G A upstream_gene_variant MELA-AU 6 112122245 112122245 single base substitution A G intron_variant MELA-AU 6 112122245 112122245 single base substitution A G upstream_gene_variant MELA-AU 6 112123731 112123731 single base substitution G A intron_variant MELA-AU 6 112123731 112123731 single base substitution G A upstream_gene_variant MELA-AU 6 112124854 112124854 single base substitution G A intron_variant MELA-AU 6 112125117 112125117 single base substitution C T intron_variant MELA-AU 6 112126030 112126030 single base substitution G A intron_variant MELA-AU 6 112126290 112126290 single base substitution C T intron_variant MELA-AU 6 112126460 112126460 single base substitution C A intron_variant MELA-AU 6 112126854 112126854 single base substitution A C intron_variant MELA-AU 6 112127933 112127933 single base substitution G A intron_variant MELA-AU 6 112127996 112127996 single base substitution C T intron_variant MELA-AU 6 112128089 112128089 single base substitution T C intron_variant MELA-AU 6 112128765 112128765 single base substitution G A intron_variant MELA-AU 6 112129351 112129352 multiple base substitution (>=2bp and <=200bp) AG CT intron_variant MELA-AU 6 112130342 112130342 single base substitution A G intron_variant MELA-AU 6 112130676 112130676 single base substitution A G intron_variant MELA-AU 6 112133238 112133238 single base substitution T A intron_variant MELA-AU 6 112133444 112133444 single base substitution G A intron_variant MELA-AU 6 112133800 112133800 single base substitution A T intron_variant MELA-AU 6 112133942 112133942 single base substitution A C intron_variant MELA-AU 6 112135335 112135335 single base substitution C T intron_variant MELA-AU 6 112135604 112135604 single base substitution G A intron_variant MELA-AU 6 112135745 112135745 single base substitution G A intron_variant MELA-AU 6 112136230 112136230 single base substitution C T intron_variant MELA-AU 6 112136838 112136838 single base substitution C A intron_variant MELA-AU 6 112137046 112137046 single base substitution G A intron_variant MELA-AU 6 112137185 112137185 single base substitution G A intron_variant MELA-AU 6 112138372 112138372 single base substitution T C intron_variant MELA-AU 6 112139051 112139051 single base substitution T G intron_variant MELA-AU 6 112140734 112140734 single base substitution A C intron_variant MELA-AU 6 112141814 112141814 single base substitution G A intron_variant MELA-AU 6 112141814 112141814 single base substitution G A upstream_gene_variant MELA-AU 6 112142210 112142210 single base substitution G A intron_variant MELA-AU 6 112142210 112142210 single base substitution G A upstream_gene_variant MELA-AU 6 112142227 112142227 single base substitution A C intron_variant MELA-AU 6 112142227 112142227 single base substitution A C upstream_gene_variant MELA-AU 6 112142283 112142283 single base substitution T C intron_variant MELA-AU 6 112142283 112142283 single base substitution T C upstream_gene_variant MELA-AU 6 112142830 112142830 single base substitution G C intron_variant MELA-AU 6 112142830 112142830 single base substitution G C upstream_gene_variant MELA-AU 6 112143225 112143225 single base substitution A C intron_variant MELA-AU 6 112143225 112143225 single base substitution A C upstream_gene_variant MELA-AU 6 112144297 112144297 single base substitution T C intron_variant MELA-AU 6 112144297 112144297 single base substitution T C upstream_gene_variant MELA-AU 6 112144409 112144409 single base substitution G A intron_variant MELA-AU 6 112144409 112144409 single base substitution G A upstream_gene_variant MELA-AU 6 112144649 112144649 single base substitution C A intron_variant MELA-AU 6 112144649 112144649 single base substitution C A upstream_gene_variant MELA-AU 6 112144722 112144722 single base substitution C T intron_variant MELA-AU 6 112144722 112144722 single base substitution C T upstream_gene_variant MELA-AU 6 112145565 112145565 single base substitution A G intron_variant MELA-AU 6 112145565 112145565 single base substitution A G upstream_gene_variant MELA-AU 6 112145805 112145805 single base substitution A G intron_variant MELA-AU 6 112145805 112145805 single base substitution A G upstream_gene_variant MELA-AU 6 112145869 112145869 single base substitution G A intron_variant MELA-AU 6 112145869 112145869 single base substitution G A upstream_gene_variant MELA-AU 6 112146303 112146303 single base substitution G A intron_variant MELA-AU 6 112146374 112146374 single base substitution G A intron_variant MELA-AU 6 112146927 112146927 single base substitution G A intron_variant MELA-AU 6 112147016 112147016 single base substitution G A intron_variant MELA-AU 6 112147526 112147526 single base substitution C T intron_variant MELA-AU 6 112148475 112148475 single base substitution G C intron_variant MELA-AU 6 112148689 112148689 single base substitution A G intron_variant MELA-AU 6 112148697 112148697 single base substitution G A intron_variant MELA-AU 6 112149989 112149989 single base substitution G A intron_variant MELA-AU 6 112150682 112150682 single base substitution G A intron_variant MELA-AU 6 112150808 112150808 single base substitution G A intron_variant MELA-AU 6 112151277 112151277 single base substitution A T intron_variant MELA-AU 6 112151351 112151351 single base substitution C T intron_variant MELA-AU 6 112152097 112152097 single base substitution A G intron_variant MELA-AU 6 112152158 112152158 single base substitution G A intron_variant MELA-AU 6 112152374 112152374 single base substitution C G intron_variant MELA-AU 6 112152400 112152400 single base substitution C T intron_variant MELA-AU 6 112153394 112153394 single base substitution G A intron_variant MELA-AU 6 112153879 112153879 single base substitution G A intron_variant MELA-AU 6 112153918 112153918 single base substitution A C intron_variant MELA-AU 6 112155177 112155177 single base substitution G A intron_variant MELA-AU 6 112155415 112155415 single base substitution G A intron_variant MELA-AU 6 112155921 112155921 single base substitution G A intron_variant MELA-AU 6 112155942 112155942 single base substitution C T intron_variant MELA-AU 6 112156418 112156418 single base substitution A C intron_variant MELA-AU 6 112156875 112156875 single base substitution G A intron_variant MELA-AU 6 112156973 112156973 single base substitution C T intron_variant MELA-AU 6 112157119 112157119 single base substitution G A intron_variant MELA-AU 6 112157318 112157318 single base substitution G A intron_variant MELA-AU 6 112158510 112158510 single base substitution G A intron_variant MELA-AU 6 112158784 112158784 single base substitution G A intron_variant MELA-AU 6 112159074 112159074 single base substitution G A intron_variant MELA-AU 6 112160117 112160117 single base substitution G T intron_variant MELA-AU 6 112160299 112160299 single base substitution T A intron_variant MELA-AU 6 112160968 112160968 single base substitution G A intron_variant MELA-AU 6 112161030 112161030 single base substitution G A intron_variant MELA-AU 6 112161155 112161155 single base substitution C T intron_variant MELA-AU 6 112161413 112161413 single base substitution G A intron_variant MELA-AU 6 112162071 112162071 single base substitution G A intron_variant MELA-AU 6 112162317 112162317 single base substitution G A intron_variant MELA-AU 6 112162792 112162792 single base substitution A C intron_variant MELA-AU 6 112162856 112162856 single base substitution G A intron_variant MELA-AU 6 112164212 112164212 single base substitution T C intron_variant MELA-AU 6 112164618 112164618 single base substitution C T intron_variant MELA-AU 6 112164914 112164914 single base substitution G A intron_variant MELA-AU 6 112165656 112165656 single base substitution C T intron_variant MELA-AU 6 112166782 112166782 single base substitution G A intron_variant MELA-AU 6 112166782 112166782 single base substitution G A upstream_gene_variant MELA-AU 6 112166833 112166833 single base substitution C T intron_variant MELA-AU 6 112166833 112166833 single base substitution C T upstream_gene_variant MELA-AU 6 112168298 112168298 single base substitution G A intron_variant MELA-AU 6 112168298 112168298 single base substitution G A upstream_gene_variant MELA-AU 6 112169009 112169009 single base substitution G C intron_variant MELA-AU 6 112169009 112169009 single base substitution G C upstream_gene_variant MELA-AU 6 112169126 112169126 single base substitution C T intron_variant MELA-AU 6 112169126 112169126 single base substitution C T upstream_gene_variant MELA-AU 6 112169418 112169418 single base substitution C T intron_variant MELA-AU 6 112169418 112169418 single base substitution C T upstream_gene_variant MELA-AU 6 112169745 112169745 single base substitution G A intron_variant MELA-AU 6 112169745 112169745 single base substitution G A upstream_gene_variant MELA-AU 6 112169915 112169915 single base substitution G A intron_variant MELA-AU 6 112169915 112169915 single base substitution G A upstream_gene_variant MELA-AU 6 112170727 112170727 single base substitution T C intron_variant MELA-AU 6 112170727 112170727 single base substitution T C upstream_gene_variant MELA-AU 6 112170889 112170889 single base substitution C T intron_variant MELA-AU 6 112170889 112170889 single base substitution C T upstream_gene_variant MELA-AU 6 112170894 112170894 single base substitution G A intron_variant MELA-AU 6 112170894 112170894 single base substitution G A upstream_gene_variant MELA-AU 6 112170909 112170909 single base substitution G A intron_variant MELA-AU 6 112170909 112170909 single base substitution G A upstream_gene_variant MELA-AU 6 112172727 112172727 single base substitution A G intron_variant MELA-AU 6 112172727 112172727 single base substitution A G upstream_gene_variant MELA-AU 6 112173260 112173260 single base substitution A C intron_variant MELA-AU 6 112173637 112173637 single base substitution G T intron_variant MELA-AU 6 112173940 112173940 single base substitution G A intron_variant MELA-AU 6 112174732 112174732 single base substitution T G intron_variant MELA-AU 6 112174804 112174804 single base substitution T G intron_variant MELA-AU 6 112174806 112174806 single base substitution G A intron_variant MELA-AU 6 112175012 112175012 single base substitution G A intron_variant MELA-AU 6 112175523 112175523 single base substitution C T intron_variant MELA-AU 6 112176215 112176215 single base substitution C T intron_variant MELA-AU 6 112179352 112179352 single base substitution G A intron_variant MELA-AU 6 112183066 112183066 single base substitution G A intron_variant MELA-AU 6 112183066 112183066 single base substitution G A upstream_gene_variant MELA-AU 6 112183333 112183333 single base substitution A G intron_variant MELA-AU 6 112183333 112183333 single base substitution A G upstream_gene_variant MELA-AU 6 112183387 112183387 single base substitution C T intron_variant MELA-AU 6 112183387 112183387 single base substitution C T upstream_gene_variant MELA-AU 6 112183862 112183862 single base substitution T A intron_variant MELA-AU 6 112183862 112183862 single base substitution T A upstream_gene_variant MELA-AU 6 112185764 112185764 single base substitution G T intron_variant MELA-AU 6 112188061 112188061 single base substitution G A intron_variant MELA-AU 6 112188259 112188259 single base substitution C T intron_variant MELA-AU 6 112189460 112189460 single base substitution C T intron_variant MELA-AU 6 112189602 112189602 single base substitution A G intron_variant MELA-AU 6 112189604 112189604 single base substitution A G intron_variant MELA-AU 6 112192962 112192962 single base substitution G A intron_variant MELA-AU 6 112193413 112193413 single base substitution C A intron_variant MELA-AU 6 112193562 112193562 single base substitution G A intron_variant MELA-AU 6 112193951 112193951 single base substitution C T intron_variant MELA-AU 6 112194038 112194038 single base substitution G A intron_variant MELA-AU 6 112194716 112194716 single base substitution C T upstream_gene_variant MELA-AU 6 112194789 112194789 single base substitution G A upstream_gene_variant MELA-AU 6 112194814 112194814 single base substitution T C upstream_gene_variant MELA-AU 6 112195896 112195896 single base substitution A G upstream_gene_variant MELA-AU 6 112196204 112196204 single base substitution T A upstream_gene_variant MELA-AU 6 112196500 112196500 single base substitution G A upstream_gene_variant MELA-AU 6 112196779 112196779 single base substitution C T upstream_gene_variant MELA-AU 6 112196823 112196823 single base substitution C T upstream_gene_variant MELA-AU 6 112197326 112197326 single base substitution T G upstream_gene_variant MELA-AU 6 112197754 112197754 single base substitution C T upstream_gene_variant MELA-AU 6 112198323 112198323 single base substitution T C upstream_gene_variant MELA-AU 6 112198600 112198600 single base substitution G A upstream_gene_variant MELA-AU 6 112199262 112199262 single base substitution C T upstream_gene_variant MELA-AU 6 112199311 112199312 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant ORCA-IN 6 111980655 111980655 single base substitution A G downstream_gene_variant ORCA-IN 6 111983799 111983799 single base substitution C T intron_variant ORCA-IN 6 112006744 112006744 single base substitution C T intron_variant ORCA-IN 6 112035747 112035747 single base substitution C G intron_variant ORCA-IN 6 112035747 112035747 single base substitution C G upstream_gene_variant ORCA-IN 6 112040883 112040883 single base substitution A G downstream_gene_variant ORCA-IN 6 112040883 112040883 single base substitution A G exon_variant ORCA-IN 6 112040883 112040883 single base substitution A G intron_variant ORCA-IN 6 112046257 112046257 single base substitution T A intron_variant ORCA-IN 6 112046257 112046257 single base substitution T A upstream_gene_variant ORCA-IN 6 112056517 112056517 single base substitution G C intron_variant ORCA-IN 6 112069140 112069140 single base substitution C T intron_variant ORCA-IN 6 112153899 112153899 deletion of <=200bp A - intron_variant ORCA-IN 6 112196447 112196447 single base substitution G A upstream_gene_variant OV-AU 6 111978376 111978376 single base substitution C A downstream_gene_variant OV-AU 6 111979710 111979710 single base substitution T A downstream_gene_variant OV-AU 6 111984218 111984218 single base substitution T C intron_variant OV-AU 6 111989774 111989774 single base substitution C T intron_variant OV-AU 6 111995217 111995217 single base substitution T G downstream_gene_variant OV-AU 6 111995217 111995217 single base substitution T G intron_variant OV-AU 6 112002795 112002795 single base substitution C A intron_variant OV-AU 6 112006486 112006486 single base substitution A T intron_variant OV-AU 6 112015939 112015939 single base substitution A G downstream_gene_variant OV-AU 6 112015939 112015939 single base substitution A G intron_variant OV-AU 6 112018248 112018248 single base substitution C G downstream_gene_variant OV-AU 6 112018248 112018248 single base substitution C G intron_variant OV-AU 6 112018248 112018248 single base substitution C G upstream_gene_variant OV-AU 6 112029072 112029072 single base substitution C T downstream_gene_variant OV-AU 6 112029072 112029072 single base substitution C T intron_variant OV-AU 6 112029072 112029072 single base substitution C T upstream_gene_variant OV-AU 6 112036395 112036395 single base substitution G C downstream_gene_variant OV-AU 6 112036395 112036395 single base substitution G C intron_variant OV-AU 6 112036395 112036395 single base substitution G C upstream_gene_variant OV-AU 6 112040239 112040239 single base substitution T C downstream_gene_variant OV-AU 6 112040239 112040239 single base substitution T C intron_variant OV-AU 6 112040239 112040239 single base substitution T C upstream_gene_variant OV-AU 6 112043318 112043318 single base substitution G T intron_variant OV-AU 6 112043318 112043318 single base substitution G T upstream_gene_variant OV-AU 6 112043490 112043490 single base substitution T A intron_variant OV-AU 6 112043490 112043490 single base substitution T A upstream_gene_variant OV-AU 6 112047878 112047878 single base substitution T C intron_variant OV-AU 6 112054470 112054470 single base substitution C A intron_variant OV-AU 6 112060051 112060051 single base substitution T C intron_variant OV-AU 6 112070802 112070802 single base substitution T G intron_variant OV-AU 6 112071239 112071239 single base substitution C A intron_variant OV-AU 6 112076419 112076419 single base substitution G C intron_variant OV-AU 6 112079806 112079806 single base substitution C G intron_variant OV-AU 6 112081016 112081016 single base substitution A C intron_variant OV-AU 6 112081016 112081016 single base substitution A C upstream_gene_variant OV-AU 6 112081376 112081376 single base substitution C G intron_variant OV-AU 6 112081376 112081376 single base substitution C G upstream_gene_variant OV-AU 6 112083927 112083927 single base substitution C G intron_variant OV-AU 6 112083927 112083927 single base substitution C G upstream_gene_variant OV-AU 6 112088217 112088217 single base substitution T A intron_variant OV-AU 6 112088714 112088714 single base substitution C G intron_variant OV-AU 6 112095898 112095898 single base substitution T C intron_variant OV-AU 6 112104839 112104839 single base substitution C G intron_variant OV-AU 6 112104839 112104839 single base substitution C G upstream_gene_variant OV-AU 6 112116646 112116646 single base substitution T C intron_variant OV-AU 6 112116646 112116646 single base substitution T C upstream_gene_variant OV-AU 6 112126033 112126033 single base substitution C A intron_variant OV-AU 6 112127848 112127848 single base substitution C A intron_variant OV-AU 6 112130110 112130110 single base substitution T A intron_variant OV-AU 6 112135660 112135660 single base substitution A C intron_variant OV-AU 6 112136585 112136585 single base substitution T C intron_variant OV-AU 6 112148181 112148181 single base substitution T G intron_variant OV-AU 6 112152532 112152532 single base substitution A G intron_variant OV-AU 6 112157141 112157141 single base substitution A T intron_variant OV-AU 6 112158384 112158384 single base substitution A T intron_variant OV-AU 6 112162239 112162239 single base substitution T A intron_variant OV-AU 6 112162290 112162290 single base substitution G C intron_variant OV-AU 6 112169779 112169779 single base substitution T C intron_variant OV-AU 6 112169779 112169779 single base substitution T C upstream_gene_variant OV-AU 6 112170058 112170058 single base substitution A G intron_variant OV-AU 6 112170058 112170058 single base substitution A G upstream_gene_variant OV-AU 6 112180159 112180159 single base substitution G C intron_variant OV-AU 6 112180159 112180159 single base substitution G C upstream_gene_variant OV-AU 6 112181483 112181483 single base substitution C T intron_variant OV-AU 6 112181483 112181483 single base substitution C T upstream_gene_variant OV-AU 6 112182203 112182203 single base substitution A T intron_variant OV-AU 6 112182203 112182203 single base substitution A T upstream_gene_variant OV-AU 6 112196052 112196052 single base substitution A G upstream_gene_variant PACA-AU 6 111976570 111976591 deletion of <=200bp TGCCAGCTTTGGTTTCTTCCTC - downstream_gene_variant PACA-AU 6 111976832 111976832 single base substitution T C downstream_gene_variant PACA-AU 6 111978549 111978549 single base substitution A C downstream_gene_variant PACA-AU 6 111982194 111982194 single base substitution G A 3_prime_UTR_variant PACA-AU 6 111982194 111982194 single base substitution G A downstream_gene_variant PACA-AU 6 111988304 111988305 deletion of <=200bp CT - intron_variant PACA-AU 6 111990750 111990750 single base substitution C T downstream_gene_variant PACA-AU 6 111990750 111990750 single base substitution C T intron_variant PACA-AU 6 112004483 112004483 single base substitution G A intron_variant PACA-AU 6 112005374 112005374 single base substitution T C intron_variant PACA-AU 6 112008799 112008799 insertion of <=200bp - GGGT intron_variant PACA-AU 6 112010586 112010586 single base substitution G A intron_variant PACA-AU 6 112014170 112014195 deletion of <=200bp TGTGTGTAACGCACGGGTATGCTTGC - downstream_gene_variant PACA-AU 6 112014170 112014195 deletion of <=200bp TGTGTGTAACGCACGGGTATGCTTGC - intron_variant PACA-AU 6 112022964 112022964 single base substitution A T downstream_gene_variant PACA-AU 6 112022964 112022964 single base substitution A T intron_variant PACA-AU 6 112022964 112022964 single base substitution A T upstream_gene_variant PACA-AU 6 112025509 112025510 deletion of <=200bp AA - downstream_gene_variant PACA-AU 6 112025509 112025510 deletion of <=200bp AA - intron_variant PACA-AU 6 112025509 112025510 deletion of <=200bp AA - upstream_gene_variant PACA-AU 6 112026468 112026468 single base substitution G A downstream_gene_variant PACA-AU 6 112026468 112026468 single base substitution G A intron_variant PACA-AU 6 112026468 112026468 single base substitution G A upstream_gene_variant PACA-AU 6 112029868 112029868 single base substitution C T intron_variant PACA-AU 6 112029868 112029868 single base substitution C T upstream_gene_variant PACA-AU 6 112034221 112034221 single base substitution T C downstream_gene_variant PACA-AU 6 112034221 112034221 single base substitution T C intron_variant PACA-AU 6 112034221 112034221 single base substitution T C upstream_gene_variant PACA-AU 6 112037455 112037455 single base substitution G A downstream_gene_variant PACA-AU 6 112037455 112037455 single base substitution G A intron_variant PACA-AU 6 112037455 112037455 single base substitution G A upstream_gene_variant PACA-AU 6 112037615 112037615 single base substitution G C downstream_gene_variant PACA-AU 6 112037615 112037615 single base substitution G C intron_variant PACA-AU 6 112037615 112037615 single base substitution G C upstream_gene_variant PACA-AU 6 112039483 112039483 single base substitution G T downstream_gene_variant PACA-AU 6 112039483 112039483 single base substitution G T intron_variant PACA-AU 6 112039483 112039483 single base substitution G T upstream_gene_variant PACA-AU 6 112046633 112046633 single base substitution T C intron_variant PACA-AU 6 112048717 112048717 single base substitution G A intron_variant PACA-AU 6 112048934 112048934 single base substitution C G intron_variant PACA-AU 6 112055161 112055161 single base substitution G A intron_variant PACA-AU 6 112058860 112058860 single base substitution A C intron_variant PACA-AU 6 112060299 112060299 single base substitution C A intron_variant PACA-AU 6 112064293 112064293 single base substitution C T intron_variant PACA-AU 6 112069339 112069339 single base substitution G A intron_variant PACA-AU 6 112075761 112075761 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 6 112075761 112075761 single base substitution G A intron_variant PACA-AU 6 112088758 112088758 single base substitution C G intron_variant PACA-AU 6 112091067 112091067 single base substitution G T intron_variant PACA-AU 6 112097024 112097024 single base substitution C T intron_variant PACA-AU 6 112102093 112102093 single base substitution C G intron_variant PACA-AU 6 112107393 112107393 single base substitution C G intron_variant PACA-AU 6 112111295 112111296 deletion of <=200bp TG - intron_variant PACA-AU 6 112112351 112112351 single base substitution C T intron_variant PACA-AU 6 112115726 112115726 single base substitution C T intron_variant PACA-AU 6 112115726 112115726 single base substitution C T upstream_gene_variant PACA-AU 6 112116682 112116682 single base substitution G A intron_variant PACA-AU 6 112116682 112116682 single base substitution G A upstream_gene_variant PACA-AU 6 112121847 112121847 single base substitution C T intron_variant PACA-AU 6 112121847 112121847 single base substitution C T upstream_gene_variant PACA-AU 6 112135016 112135016 single base substitution G A intron_variant PACA-AU 6 112138182 112138182 single base substitution T G intron_variant PACA-AU 6 112139986 112139986 single base substitution T C intron_variant PACA-AU 6 112160650 112160650 single base substitution A C intron_variant PACA-AU 6 112164000 112164000 single base substitution C T intron_variant PACA-AU 6 112166642 112166642 single base substitution T C intron_variant PACA-AU 6 112166642 112166642 single base substitution T C upstream_gene_variant PACA-AU 6 112180491 112180491 single base substitution G A intron_variant PACA-AU 6 112180491 112180491 single base substitution G A upstream_gene_variant PACA-AU 6 112186457 112186457 single base substitution T A intron_variant PACA-AU 6 112187575 112187575 single base substitution C T intron_variant PACA-AU 6 112189117 112189117 single base substitution C T intron_variant PACA-AU 6 112193506 112193506 single base substitution G A intron_variant PACA-AU 6 112198706 112198706 single base substitution G T upstream_gene_variant PACA-CA 6 111980511 111980511 single base substitution C A downstream_gene_variant PACA-CA 6 111982218 111982218 single base substitution G A 3_prime_UTR_variant PACA-CA 6 111982218 111982218 single base substitution G A downstream_gene_variant PACA-CA 6 111990459 111990459 single base substitution G A intron_variant PACA-CA 6 111993101 111993101 single base substitution C T downstream_gene_variant PACA-CA 6 111993101 111993101 single base substitution C T intron_variant PACA-CA 6 111993440 111993440 single base substitution T C downstream_gene_variant PACA-CA 6 111993440 111993440 single base substitution T C intron_variant PACA-CA 6 111994141 111994141 single base substitution T G downstream_gene_variant PACA-CA 6 111994141 111994141 single base substitution T G intron_variant PACA-CA 6 111995705 111995705 single base substitution G T exon_variant PACA-CA 6 111995705 111995705 single base substitution G T missense_variant P413T 1237C>A PACA-CA 6 111995705 111995705 single base substitution G T missense_variant P416T 1246C>A PACA-CA 6 111995705 111995705 single base substitution G T missense_variant P465T 1393C>A PACA-CA 6 111995705 111995705 single base substitution G T missense_variant P468T 1402C>A PACA-CA 6 111997914 111997914 single base substitution C G intron_variant PACA-CA 6 111997914 111997914 single base substitution C G upstream_gene_variant PACA-CA 6 112000176 112000176 insertion of <=200bp - C intron_variant PACA-CA 6 112000176 112000176 insertion of <=200bp - C upstream_gene_variant PACA-CA 6 112002353 112002353 single base substitution C A intron_variant PACA-CA 6 112002353 112002353 single base substitution C A upstream_gene_variant PACA-CA 6 112005885 112005885 single base substitution G A intron_variant PACA-CA 6 112006294 112006294 single base substitution C T intron_variant PACA-CA 6 112007392 112007392 single base substitution G A intron_variant PACA-CA 6 112008181 112008181 single base substitution T C intron_variant PACA-CA 6 112014651 112014651 single base substitution T C downstream_gene_variant PACA-CA 6 112014651 112014651 single base substitution T C intron_variant PACA-CA 6 112018534 112018534 single base substitution C T downstream_gene_variant PACA-CA 6 112018534 112018534 single base substitution C T intron_variant PACA-CA 6 112018534 112018534 single base substitution C T upstream_gene_variant PACA-CA 6 112018651 112018651 single base substitution A G downstream_gene_variant PACA-CA 6 112018651 112018651 single base substitution A G intron_variant PACA-CA 6 112018651 112018651 single base substitution A G upstream_gene_variant PACA-CA 6 112022308 112022308 deletion of <=200bp A - downstream_gene_variant PACA-CA 6 112022308 112022308 deletion of <=200bp A - intron_variant PACA-CA 6 112022308 112022308 deletion of <=200bp A - upstream_gene_variant PACA-CA 6 112023664 112023664 single base substitution G A downstream_gene_variant PACA-CA 6 112023664 112023664 single base substitution G A exon_variant PACA-CA 6 112023664 112023664 single base substitution G A intron_variant PACA-CA 6 112025249 112025249 single base substitution C T downstream_gene_variant PACA-CA 6 112025249 112025249 single base substitution C T exon_variant PACA-CA 6 112025249 112025249 single base substitution C T missense_variant G118E 353G>A PACA-CA 6 112025249 112025249 single base substitution C T missense_variant G167E 500G>A PACA-CA 6 112025249 112025249 single base substitution C T upstream_gene_variant PACA-CA 6 112030394 112030394 single base substitution A T intron_variant PACA-CA 6 112030394 112030394 single base substitution A T upstream_gene_variant PACA-CA 6 112036144 112036144 single base substitution C G downstream_gene_variant PACA-CA 6 112036144 112036144 single base substitution C G intron_variant PACA-CA 6 112036144 112036144 single base substitution C G upstream_gene_variant PACA-CA 6 112038855 112038855 single base substitution C T downstream_gene_variant PACA-CA 6 112038855 112038855 single base substitution C T intron_variant PACA-CA 6 112038855 112038855 single base substitution C T upstream_gene_variant PACA-CA 6 112041210 112041210 single base substitution C T exon_variant PACA-CA 6 112041210 112041210 single base substitution C T synonymous_variant T15T 45G>A PACA-CA 6 112041211 112041211 single base substitution G A exon_variant PACA-CA 6 112041211 112041211 single base substitution G A missense_variant T15M 44C>T PACA-CA 6 112041717 112041717 single base substitution T G intron_variant PACA-CA 6 112041717 112041717 single base substitution T G upstream_gene_variant PACA-CA 6 112042511 112042511 single base substitution C T intron_variant PACA-CA 6 112042511 112042511 single base substitution C T upstream_gene_variant PACA-CA 6 112044105 112044105 single base substitution C T intron_variant PACA-CA 6 112044105 112044105 single base substitution C T upstream_gene_variant PACA-CA 6 112045123 112045123 single base substitution G A intron_variant PACA-CA 6 112045123 112045123 single base substitution G A upstream_gene_variant PACA-CA 6 112045276 112045276 single base substitution G A intron_variant PACA-CA 6 112045276 112045276 single base substitution G A upstream_gene_variant PACA-CA 6 112049177 112049177 single base substitution G A intron_variant PACA-CA 6 112051098 112051098 single base substitution G T intron_variant PACA-CA 6 112053934 112053934 single base substitution G A intron_variant PACA-CA 6 112056856 112056856 insertion of <=200bp - G intron_variant PACA-CA 6 112059614 112059614 single base substitution G A intron_variant PACA-CA 6 112067367 112067367 deletion of <=200bp T - intron_variant PACA-CA 6 112071583 112071583 single base substitution G A intron_variant PACA-CA 6 112079286 112079286 single base substitution T A intron_variant PACA-CA 6 112086103 112086103 single base substitution T C intron_variant PACA-CA 6 112086103 112086103 single base substitution T C upstream_gene_variant PACA-CA 6 112092970 112092970 single base substitution C A intron_variant PACA-CA 6 112093160 112093160 deletion of <=200bp A - intron_variant PACA-CA 6 112093162 112093184 deletion of <=200bp AAGGGATGAGAGGGAACATGGAA - intron_variant PACA-CA 6 112100916 112100916 single base substitution C G intron_variant PACA-CA 6 112104746 112104746 single base substitution C T intron_variant PACA-CA 6 112104746 112104746 single base substitution C T upstream_gene_variant PACA-CA 6 112106186 112106186 single base substitution A G intron_variant PACA-CA 6 112106186 112106186 single base substitution A G upstream_gene_variant PACA-CA 6 112112186 112112186 single base substitution G A intron_variant PACA-CA 6 112118916 112118916 single base substitution C T intron_variant PACA-CA 6 112118916 112118916 single base substitution C T upstream_gene_variant PACA-CA 6 112123448 112123448 single base substitution T C intron_variant PACA-CA 6 112123448 112123448 single base substitution T C upstream_gene_variant PACA-CA 6 112132089 112132089 single base substitution T C intron_variant PACA-CA 6 112132145 112132145 single base substitution G A intron_variant PACA-CA 6 112135230 112135230 single base substitution G A 5_prime_UTR_variant PACA-CA 6 112135230 112135230 single base substitution G A intron_variant PACA-CA 6 112136372 112136372 single base substitution C T intron_variant PACA-CA 6 112139870 112139870 single base substitution T G exon_variant PACA-CA 6 112139870 112139870 single base substitution T G intron_variant PACA-CA 6 112140890 112140890 single base substitution T G intron_variant PACA-CA 6 112144568 112144568 single base substitution A T intron_variant PACA-CA 6 112144568 112144568 single base substitution A T upstream_gene_variant PACA-CA 6 112146728 112146728 single base substitution T C intron_variant PACA-CA 6 112147400 112147400 single base substitution C A intron_variant PACA-CA 6 112148754 112148754 single base substitution C T intron_variant PACA-CA 6 112150123 112150123 single base substitution A G intron_variant PACA-CA 6 112153494 112153494 single base substitution T G intron_variant PACA-CA 6 112156850 112156850 single base substitution G A intron_variant PACA-CA 6 112156974 112156974 single base substitution G T intron_variant PACA-CA 6 112159033 112159033 single base substitution C A intron_variant PACA-CA 6 112161349 112161349 single base substitution C T intron_variant PACA-CA 6 112162570 112162570 deletion of <=200bp A - intron_variant PACA-CA 6 112174030 112174030 single base substitution A C intron_variant PACA-CA 6 112175657 112175657 single base substitution C A intron_variant PACA-CA 6 112177150 112177150 single base substitution A C intron_variant PACA-CA 6 112187850 112187850 single base substitution C T intron_variant PACA-CA 6 112188582 112188582 single base substitution T A intron_variant PACA-CA 6 112190163 112190163 single base substitution G T intron_variant PACA-CA 6 112190272 112190272 deletion of <=200bp A - intron_variant PACA-CA 6 112195854 112195854 single base substitution T A upstream_gene_variant PACA-CA 6 112198516 112198516 deletion of <=200bp T - upstream_gene_variant PAEN-AU 6 112040479 112040479 single base substitution T C downstream_gene_variant PAEN-AU 6 112040479 112040479 single base substitution T C intron_variant PAEN-AU 6 112040479 112040479 single base substitution T C upstream_gene_variant PAEN-AU 6 112059640 112059640 single base substitution C T intron_variant PAEN-AU 6 112083605 112083605 single base substitution C A intron_variant PAEN-AU 6 112083605 112083605 single base substitution C A upstream_gene_variant PAEN-AU 6 112088274 112088274 single base substitution G A intron_variant PAEN-AU 6 112100871 112100871 single base substitution T C intron_variant PAEN-AU 6 112109798 112109798 single base substitution T C intron_variant PAEN-IT 6 112051328 112051328 single base substitution G T intron_variant PAEN-IT 6 112119426 112119426 single base substitution C T intron_variant PAEN-IT 6 112119426 112119426 single base substitution C T upstream_gene_variant PAEN-IT 6 112146227 112146227 single base substitution G A intron_variant PAEN-IT 6 112146227 112146227 single base substitution G A upstream_gene_variant PBCA-DE 6 111979221 111979221 single base substitution C T downstream_gene_variant PBCA-DE 6 111980202 111980202 single base substitution A G downstream_gene_variant PBCA-DE 6 111981098 111981098 single base substitution C T downstream_gene_variant PBCA-DE 6 112002123 112002123 single base substitution C T intron_variant PBCA-DE 6 112002123 112002123 single base substitution C T upstream_gene_variant PBCA-DE 6 112008809 112008810 deletion of <=200bp GT - intron_variant PBCA-DE 6 112008846 112008847 deletion of <=200bp AG - intron_variant PBCA-DE 6 112036137 112036137 single base substitution G C downstream_gene_variant PBCA-DE 6 112036137 112036137 single base substitution G C intron_variant PBCA-DE 6 112036137 112036137 single base substitution G C upstream_gene_variant PBCA-DE 6 112037868 112037868 single base substitution T A downstream_gene_variant PBCA-DE 6 112037868 112037868 single base substitution T A intron_variant PBCA-DE 6 112037868 112037868 single base substitution T A upstream_gene_variant PBCA-DE 6 112041993 112041993 insertion of <=200bp - A intron_variant PBCA-DE 6 112041993 112041993 insertion of <=200bp - A upstream_gene_variant PBCA-DE 6 112050309 112050309 single base substitution T C intron_variant PBCA-DE 6 112058097 112058097 single base substitution G T intron_variant PBCA-DE 6 112058130 112058130 single base substitution A T intron_variant PBCA-DE 6 112065932 112065932 deletion of <=200bp G - intron_variant PBCA-DE 6 112091299 112091299 single base substitution C T intron_variant PBCA-DE 6 112091777 112091777 single base substitution T C intron_variant PBCA-DE 6 112098309 112098309 single base substitution C T intron_variant PBCA-DE 6 112111295 112111296 deletion of <=200bp TG - intron_variant PBCA-DE 6 112122528 112122528 single base substitution C T intron_variant PBCA-DE 6 112122528 112122528 single base substitution C T upstream_gene_variant PBCA-DE 6 112134445 112134445 single base substitution C T intron_variant PBCA-DE 6 112137928 112137928 single base substitution T A intron_variant PBCA-DE 6 112140564 112140564 single base substitution T C intron_variant PBCA-DE 6 112150429 112150429 single base substitution T C intron_variant PBCA-DE 6 112151048 112151048 single base substitution G A intron_variant PBCA-DE 6 112151052 112151052 single base substitution G C intron_variant PBCA-DE 6 112152116 112152116 single base substitution T C intron_variant PBCA-DE 6 112157229 112157229 single base substitution C T intron_variant PBCA-DE 6 112165613 112165613 single base substitution C A intron_variant PBCA-DE 6 112169357 112169357 single base substitution G A intron_variant PBCA-DE 6 112169357 112169357 single base substitution G A upstream_gene_variant PBCA-DE 6 112169414 112169422 deletion of <=200bp GATTCACAG - intron_variant PBCA-DE 6 112169414 112169422 deletion of <=200bp GATTCACAG - upstream_gene_variant PBCA-DE 6 112178900 112178900 insertion of <=200bp - A intron_variant PBCA-DE 6 112193752 112193752 single base substitution T G intron_variant PBCA-DE 6 112197025 112197026 deletion of <=200bp CT - upstream_gene_variant PRAD-CA 6 111979920 111979920 single base substitution T G downstream_gene_variant PRAD-CA 6 112041830 112041830 single base substitution C A intron_variant PRAD-CA 6 112041830 112041830 single base substitution C A upstream_gene_variant PRAD-CA 6 112065701 112065701 single base substitution T A intron_variant PRAD-CA 6 112069183 112069183 single base substitution C A intron_variant PRAD-CA 6 112071078 112071078 single base substitution C A intron_variant PRAD-CA 6 112072692 112072692 single base substitution A G intron_variant PRAD-CA 6 112075257 112075257 single base substitution C T intron_variant PRAD-CA 6 112075928 112075928 single base substitution A G intron_variant PRAD-CA 6 112081616 112081616 single base substitution G A intron_variant PRAD-CA 6 112081616 112081616 single base substitution G A upstream_gene_variant PRAD-CA 6 112081735 112081735 single base substitution C T intron_variant PRAD-CA 6 112081735 112081735 single base substitution C T upstream_gene_variant PRAD-CA 6 112082342 112082342 single base substitution T A intron_variant PRAD-CA 6 112082342 112082342 single base substitution T A upstream_gene_variant PRAD-CA 6 112095988 112095988 single base substitution C T intron_variant PRAD-CA 6 112096345 112096345 single base substitution T C intron_variant PRAD-CA 6 112097600 112097600 single base substitution G A intron_variant PRAD-CA 6 112098065 112098065 single base substitution G A intron_variant PRAD-CA 6 112098264 112098264 single base substitution A G intron_variant PRAD-CA 6 112098896 112098896 single base substitution T C intron_variant PRAD-CA 6 112101712 112101712 single base substitution C G intron_variant PRAD-CA 6 112101725 112101725 single base substitution C A intron_variant PRAD-CA 6 112101775 112101775 single base substitution G T 5_prime_UTR_variant PRAD-CA 6 112101775 112101775 single base substitution G T exon_variant PRAD-CA 6 112101775 112101775 single base substitution G T intron_variant PRAD-CA 6 112101857 112101857 single base substitution A G intron_variant PRAD-CA 6 112102007 112102007 single base substitution C T intron_variant PRAD-CA 6 112113608 112113608 single base substitution G T intron_variant PRAD-CA 6 112118916 112118916 single base substitution C T intron_variant PRAD-CA 6 112118916 112118916 single base substitution C T upstream_gene_variant PRAD-CA 6 112158666 112158666 single base substitution A G intron_variant PRAD-CA 6 112169306 112169306 single base substitution A C intron_variant PRAD-CA 6 112169306 112169306 single base substitution A C upstream_gene_variant PRAD-CA 6 112170627 112170627 single base substitution G A intron_variant PRAD-CA 6 112170627 112170627 single base substitution G A upstream_gene_variant PRAD-CA 6 112180202 112180202 single base substitution A G intron_variant PRAD-CA 6 112180202 112180202 single base substitution A G upstream_gene_variant PRAD-CA 6 112197052 112197052 single base substitution C T upstream_gene_variant PRAD-UK 6 111978834 111978834 single base substitution A T downstream_gene_variant PRAD-UK 6 111979676 111979689 deletion of <=200bp AGGAGGTTGAGGCT - downstream_gene_variant PRAD-UK 6 111996905 111996905 single base substitution A T intron_variant PRAD-UK 6 111999041 111999041 insertion of <=200bp - T intron_variant PRAD-UK 6 111999041 111999041 insertion of <=200bp - T upstream_gene_variant PRAD-UK 6 112004308 112004308 single base substitution A T intron_variant PRAD-UK 6 112041287 112041287 single base substitution G T intron_variant PRAD-UK 6 112041287 112041287 single base substitution G T upstream_gene_variant PRAD-UK 6 112045694 112045694 single base substitution C A intron_variant PRAD-UK 6 112045694 112045694 single base substitution C A upstream_gene_variant PRAD-UK 6 112046643 112046643 single base substitution C T intron_variant PRAD-UK 6 112052300 112052300 single base substitution G A intron_variant PRAD-UK 6 112053964 112053964 single base substitution G A intron_variant PRAD-UK 6 112054545 112054545 single base substitution G A intron_variant PRAD-UK 6 112077651 112077651 insertion of <=200bp - A intron_variant PRAD-UK 6 112082428 112082428 single base substitution C G intron_variant PRAD-UK 6 112082428 112082428 single base substitution C G upstream_gene_variant PRAD-UK 6 112086800 112086800 single base substitution C T intron_variant PRAD-UK 6 112099977 112099977 single base substitution G A intron_variant PRAD-UK 6 112107013 112107013 single base substitution C A intron_variant PRAD-UK 6 112107013 112107013 single base substitution C A upstream_gene_variant PRAD-UK 6 112113800 112113800 single base substitution C A intron_variant PRAD-UK 6 112129918 112129918 single base substitution G A intron_variant PRAD-UK 6 112135420 112135420 single base substitution G T intron_variant PRAD-UK 6 112136598 112136598 single base substitution C G intron_variant PRAD-UK 6 112136952 112136952 single base substitution C G intron_variant PRAD-UK 6 112199172 112199172 single base substitution A C upstream_gene_variant READ-US 6 112024169 112024169 single base substitution G A downstream_gene_variant READ-US 6 112024169 112024169 single base substitution G A exon_variant READ-US 6 112024169 112024169 single base substitution G A missense_variant R157C 469C>T READ-US 6 112024169 112024169 single base substitution G A missense_variant R206C 616C>T READ-US 6 112041168 112041168 single base substitution G T exon_variant READ-US 6 112041168 112041168 single base substitution G T synonymous_variant R29R 87C>A RECA-EU 6 111977930 111977930 single base substitution G A downstream_gene_variant RECA-EU 6 111989270 111989270 single base substitution C A intron_variant RECA-EU 6 111996708 111996708 single base substitution G A intron_variant RECA-EU 6 111997740 111997740 single base substitution G A exon_variant RECA-EU 6 111997740 111997740 single base substitution G A intron_variant RECA-EU 6 111997786 111997786 single base substitution A T intron_variant RECA-EU 6 111997786 111997786 single base substitution A T upstream_gene_variant RECA-EU 6 112002166 112002166 single base substitution C T intron_variant RECA-EU 6 112002166 112002166 single base substitution C T upstream_gene_variant RECA-EU 6 112006774 112006774 single base substitution C T intron_variant RECA-EU 6 112007066 112007066 single base substitution C A intron_variant RECA-EU 6 112008893 112008893 single base substitution A C intron_variant RECA-EU 6 112023058 112023058 single base substitution C T downstream_gene_variant RECA-EU 6 112023058 112023058 single base substitution C T intron_variant RECA-EU 6 112024348 112024348 single base substitution T G downstream_gene_variant RECA-EU 6 112024348 112024348 single base substitution T G intron_variant RECA-EU 6 112024348 112024348 single base substitution T G upstream_gene_variant RECA-EU 6 112030807 112030807 single base substitution A C downstream_gene_variant RECA-EU 6 112030807 112030807 single base substitution A C intron_variant RECA-EU 6 112030807 112030807 single base substitution A C upstream_gene_variant RECA-EU 6 112033101 112033101 single base substitution A T downstream_gene_variant RECA-EU 6 112033101 112033101 single base substitution A T intron_variant RECA-EU 6 112033101 112033101 single base substitution A T upstream_gene_variant RECA-EU 6 112047852 112047852 single base substitution T A intron_variant RECA-EU 6 112075759 112075759 single base substitution G A 5_prime_UTR_variant RECA-EU 6 112075759 112075759 single base substitution G A intron_variant RECA-EU 6 112108686 112108686 single base substitution T C intron_variant RECA-EU 6 112116266 112116266 single base substitution T A intron_variant RECA-EU 6 112116266 112116266 single base substitution T A upstream_gene_variant RECA-EU 6 112141357 112141357 single base substitution C G intron_variant RECA-EU 6 112141357 112141357 single base substitution C G upstream_gene_variant RECA-EU 6 112145713 112145713 single base substitution G A intron_variant RECA-EU 6 112145713 112145713 single base substitution G A upstream_gene_variant RECA-EU 6 112148637 112148637 single base substitution C A intron_variant RECA-EU 6 112155279 112155279 single base substitution A T intron_variant RECA-EU 6 112164893 112164893 single base substitution C G intron_variant RECA-EU 6 112173728 112173728 single base substitution T G intron_variant RECA-EU 6 112173874 112173874 single base substitution T A intron_variant RECA-EU 6 112189923 112189923 single base substitution T A intron_variant SKCA-BR 6 111976959 111976959 single base substitution G A downstream_gene_variant SKCA-BR 6 111987593 111987593 single base substitution A G intron_variant SKCA-BR 6 111989705 111989705 insertion of <=200bp - GAA intron_variant SKCA-BR 6 111990292 111990292 single base substitution G A intron_variant SKCA-BR 6 111990641 111990641 insertion of <=200bp - CAAA intron_variant SKCA-BR 6 111993188 111993188 single base substitution G T downstream_gene_variant SKCA-BR 6 111993188 111993188 single base substitution G T intron_variant SKCA-BR 6 111993824 111993824 single base substitution C T downstream_gene_variant SKCA-BR 6 111993824 111993824 single base substitution C T intron_variant SKCA-BR 6 111994863 111994863 single base substitution C T downstream_gene_variant SKCA-BR 6 111994863 111994863 single base substitution C T intron_variant SKCA-BR 6 111999311 111999311 single base substitution A G intron_variant SKCA-BR 6 111999311 111999311 single base substitution A G upstream_gene_variant SKCA-BR 6 111999865 111999865 single base substitution G A intron_variant SKCA-BR 6 111999865 111999865 single base substitution G A upstream_gene_variant SKCA-BR 6 112000016 112000016 single base substitution C T intron_variant SKCA-BR 6 112000016 112000016 single base substitution C T upstream_gene_variant SKCA-BR 6 112002235 112002235 insertion of <=200bp - AT intron_variant SKCA-BR 6 112002235 112002235 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 6 112002522 112002522 single base substitution C G intron_variant SKCA-BR 6 112002522 112002522 single base substitution C G upstream_gene_variant SKCA-BR 6 112007320 112007320 single base substitution G A intron_variant SKCA-BR 6 112007442 112007442 single base substitution G A intron_variant SKCA-BR 6 112008812 112008812 single base substitution T G intron_variant SKCA-BR 6 112019731 112019731 single base substitution G A downstream_gene_variant SKCA-BR 6 112019731 112019731 single base substitution G A intron_variant SKCA-BR 6 112019731 112019731 single base substitution G A upstream_gene_variant SKCA-BR 6 112019732 112019732 single base substitution G A downstream_gene_variant SKCA-BR 6 112019732 112019732 single base substitution G A intron_variant SKCA-BR 6 112019732 112019732 single base substitution G A upstream_gene_variant SKCA-BR 6 112028778 112028778 single base substitution G A downstream_gene_variant SKCA-BR 6 112028778 112028778 single base substitution G A intron_variant SKCA-BR 6 112028778 112028778 single base substitution G A upstream_gene_variant SKCA-BR 6 112028779 112028779 single base substitution G A downstream_gene_variant SKCA-BR 6 112028779 112028779 single base substitution G A intron_variant SKCA-BR 6 112028779 112028779 single base substitution G A upstream_gene_variant SKCA-BR 6 112029402 112029402 single base substitution C T exon_variant SKCA-BR 6 112029402 112029402 single base substitution C T intron_variant SKCA-BR 6 112029402 112029402 single base substitution C T upstream_gene_variant SKCA-BR 6 112029604 112029604 single base substitution T C intron_variant SKCA-BR 6 112029604 112029604 single base substitution T C upstream_gene_variant SKCA-BR 6 112030394 112030394 single base substitution A T intron_variant SKCA-BR 6 112030394 112030394 single base substitution A T upstream_gene_variant SKCA-BR 6 112031098 112031098 single base substitution C T downstream_gene_variant SKCA-BR 6 112031098 112031098 single base substitution C T intron_variant SKCA-BR 6 112031098 112031098 single base substitution C T upstream_gene_variant SKCA-BR 6 112031876 112031876 single base substitution T G downstream_gene_variant SKCA-BR 6 112031876 112031876 single base substitution T G intron_variant SKCA-BR 6 112031876 112031876 single base substitution T G upstream_gene_variant SKCA-BR 6 112034085 112034085 single base substitution G A downstream_gene_variant SKCA-BR 6 112034085 112034085 single base substitution G A intron_variant SKCA-BR 6 112034085 112034085 single base substitution G A upstream_gene_variant SKCA-BR 6 112040036 112040036 single base substitution T C downstream_gene_variant SKCA-BR 6 112040036 112040036 single base substitution T C intron_variant SKCA-BR 6 112040036 112040036 single base substitution T C upstream_gene_variant SKCA-BR 6 112041698 112041698 single base substitution G A intron_variant SKCA-BR 6 112041698 112041698 single base substitution G A upstream_gene_variant SKCA-BR 6 112049632 112049657 deletion of <=200bp ATTTCCATTATCTAATTCCAGAACAT - intron_variant SKCA-BR 6 112050552 112050552 single base substitution C T intron_variant SKCA-BR 6 112052353 112052353 single base substitution A C intron_variant SKCA-BR 6 112056451 112056451 single base substitution C T intron_variant SKCA-BR 6 112060334 112060334 single base substitution G A intron_variant SKCA-BR 6 112063351 112063351 single base substitution T G intron_variant SKCA-BR 6 112068213 112068213 single base substitution G A intron_variant SKCA-BR 6 112071920 112071920 insertion of <=200bp - AT intron_variant SKCA-BR 6 112081799 112081799 single base substitution G A intron_variant SKCA-BR 6 112081799 112081799 single base substitution G A upstream_gene_variant SKCA-BR 6 112081858 112081858 single base substitution T C intron_variant SKCA-BR 6 112081858 112081858 single base substitution T C upstream_gene_variant SKCA-BR 6 112085436 112085436 single base substitution G A intron_variant SKCA-BR 6 112085436 112085436 single base substitution G A upstream_gene_variant SKCA-BR 6 112085441 112085441 single base substitution G A intron_variant SKCA-BR 6 112085441 112085441 single base substitution G A upstream_gene_variant SKCA-BR 6 112085445 112085445 insertion of <=200bp - AG intron_variant SKCA-BR 6 112085445 112085445 insertion of <=200bp - AG upstream_gene_variant SKCA-BR 6 112092088 112092088 single base substitution A C intron_variant SKCA-BR 6 112094061 112094061 single base substitution C G intron_variant SKCA-BR 6 112100576 112100589 deletion of <=200bp TAATAAGCATAGAC - intron_variant SKCA-BR 6 112100680 112100680 single base substitution C T intron_variant SKCA-BR 6 112103216 112103216 single base substitution G A intron_variant SKCA-BR 6 112103216 112103216 single base substitution G A upstream_gene_variant SKCA-BR 6 112107028 112107028 single base substitution G C intron_variant SKCA-BR 6 112107028 112107028 single base substitution G C upstream_gene_variant SKCA-BR 6 112108523 112108523 single base substitution G A intron_variant SKCA-BR 6 112116570 112116570 single base substitution C T intron_variant SKCA-BR 6 112116570 112116570 single base substitution C T upstream_gene_variant SKCA-BR 6 112118868 112118874 deletion of <=200bp CATATAT - intron_variant SKCA-BR 6 112118868 112118874 deletion of <=200bp CATATAT - upstream_gene_variant SKCA-BR 6 112118886 112118916 deletion of <=200bp TATATATATATATATATATATATATATATAC - intron_variant SKCA-BR 6 112118886 112118916 deletion of <=200bp TATATATATATATATATATATATATATATAC - upstream_gene_variant SKCA-BR 6 112118913 112118913 single base substitution A T intron_variant SKCA-BR 6 112118913 112118913 single base substitution A T upstream_gene_variant SKCA-BR 6 112129312 112129312 single base substitution A G intron_variant SKCA-BR 6 112132919 112132919 single base substitution C T intron_variant SKCA-BR 6 112133807 112133817 deletion of <=200bp CTTTTTTTTTT - intron_variant SKCA-BR 6 112138336 112138336 single base substitution C T intron_variant SKCA-BR 6 112142417 112142417 single base substitution C T intron_variant SKCA-BR 6 112142417 112142417 single base substitution C T upstream_gene_variant SKCA-BR 6 112143369 112143369 single base substitution A T intron_variant SKCA-BR 6 112143369 112143369 single base substitution A T upstream_gene_variant SKCA-BR 6 112143457 112143457 single base substitution G A intron_variant SKCA-BR 6 112143457 112143457 single base substitution G A upstream_gene_variant SKCA-BR 6 112146115 112146115 single base substitution T C intron_variant SKCA-BR 6 112146115 112146115 single base substitution T C upstream_gene_variant SKCA-BR 6 112152014 112152014 single base substitution G A intron_variant SKCA-BR 6 112157009 112157010 deletion of <=200bp AG - intron_variant SKCA-BR 6 112157878 112157878 single base substitution G A intron_variant SKCA-BR 6 112170792 112170792 single base substitution A G intron_variant SKCA-BR 6 112170792 112170792 single base substitution A G upstream_gene_variant SKCA-BR 6 112174775 112174775 single base substitution G A intron_variant SKCA-BR 6 112178796 112178796 single base substitution T G intron_variant SKCA-BR 6 112178803 112178803 single base substitution T A intron_variant SKCA-BR 6 112178832 112178832 single base substitution G A intron_variant SKCA-BR 6 112178847 112178847 single base substitution G T intron_variant SKCA-BR 6 112181674 112181674 single base substitution G A intron_variant SKCA-BR 6 112181674 112181674 single base substitution G A upstream_gene_variant SKCA-BR 6 112184040 112184040 single base substitution G T intron_variant SKCA-BR 6 112184040 112184040 single base substitution G T upstream_gene_variant SKCA-BR 6 112185732 112185732 single base substitution T C intron_variant SKCA-BR 6 112188609 112188609 single base substitution G A intron_variant SKCA-BR 6 112189736 112189736 single base substitution A T intron_variant SKCA-BR 6 112192389 112192389 single base substitution C T intron_variant SKCA-BR 6 112194533 112194533 single base substitution A C 5_prime_UTR_variant SKCA-BR 6 112194533 112194533 single base substitution A C upstream_gene_variant SKCA-BR 6 112194538 112194538 single base substitution T C 5_prime_UTR_variant SKCA-BR 6 112194538 112194538 single base substitution T C upstream_gene_variant SKCA-BR 6 112197024 112197024 insertion of <=200bp - CCTCTCTCTCTCTCTCTCT upstream_gene_variant SKCA-BR 6 112197052 112197052 single base substitution C T upstream_gene_variant SKCA-BR 6 112197511 112197511 single base substitution C T upstream_gene_variant SKCA-BR 6 112198178 112198178 single base substitution C T upstream_gene_variant SKCA-BR 6 112198728 112198728 single base substitution G A upstream_gene_variant SKCA-BR 6 112198761 112198761 single base substitution C T upstream_gene_variant SKCA-BR 6 112199290 112199290 single base substitution A C upstream_gene_variant SKCA-BR 6 112199330 112199330 single base substitution A C upstream_gene_variant SKCM-US 6 111983042 111983042 deletion of <=200bp T - exon_variant SKCM-US 6 111983042 111983042 deletion of <=200bp T - frameshift_variant K450 SKCM-US 6 111983042 111983042 deletion of <=200bp T - frameshift_variant K453 SKCM-US 6 111983042 111983042 deletion of <=200bp T - frameshift_variant K502 SKCM-US 6 111983042 111983042 deletion of <=200bp T - frameshift_variant K505 SKCM-US 6 111995755 111995755 single base substitution G A exon_variant SKCM-US 6 111995755 111995755 single base substitution G A missense_variant S396F 1187C>T SKCM-US 6 111995755 111995755 single base substitution G A missense_variant S399F 1196C>T SKCM-US 6 111995755 111995755 single base substitution G A missense_variant S448F 1343C>T SKCM-US 6 111995755 111995755 single base substitution G A missense_variant S451F 1352C>T SKCM-US 6 112021360 112021360 single base substitution G A downstream_gene_variant SKCM-US 6 112021360 112021360 single base substitution G A exon_variant SKCM-US 6 112021360 112021360 single base substitution G A intron_variant SKCM-US 6 112021360 112021360 single base substitution G A missense_variant S270F 809C>T SKCM-US 6 112021360 112021360 single base substitution G A upstream_gene_variant SKCM-US 6 112021399 112021399 single base substitution G A downstream_gene_variant SKCM-US 6 112021399 112021399 single base substitution G A exon_variant SKCM-US 6 112021399 112021399 single base substitution G A intron_variant SKCM-US 6 112021399 112021399 single base substitution G A missense_variant S257F 770C>T SKCM-US 6 112021399 112021399 single base substitution G A upstream_gene_variant SKCM-US 6 112025283 112025283 single base substitution G A downstream_gene_variant SKCM-US 6 112025283 112025283 single base substitution G A exon_variant SKCM-US 6 112025283 112025283 single base substitution G A stop_gained R107* 319C>T SKCM-US 6 112025283 112025283 single base substitution G A stop_gained R156* 466C>T SKCM-US 6 112025283 112025283 single base substitution G A upstream_gene_variant SKCM-US 6 112035566 112035566 single base substitution G A downstream_gene_variant SKCM-US 6 112035566 112035566 single base substitution G A exon_variant SKCM-US 6 112035566 112035566 single base substitution G A intron_variant SKCM-US 6 112035566 112035566 single base substitution G A stop_gained Q110* 328C>T SKCM-US 6 112035566 112035566 single base substitution G T downstream_gene_variant SKCM-US 6 112035566 112035566 single base substitution G T exon_variant SKCM-US 6 112035566 112035566 single base substitution G T intron_variant SKCM-US 6 112035566 112035566 single base substitution G T missense_variant Q110K 328C>A STAD-US 6 111983105 111983105 single base substitution C A exon_variant STAD-US 6 111983105 111983105 single base substitution C A missense_variant R429M 1286G>T STAD-US 6 111983105 111983105 single base substitution C A missense_variant R432M 1295G>T STAD-US 6 111983105 111983105 single base substitution C A missense_variant R481M 1442G>T STAD-US 6 111983105 111983105 single base substitution C A missense_variant R484M 1451G>T STAD-US 6 111995713 111995713 single base substitution A G exon_variant STAD-US 6 111995713 111995713 single base substitution A G missense_variant V410A 1229T>C STAD-US 6 111995713 111995713 single base substitution A G missense_variant V413A 1238T>C STAD-US 6 111995713 111995713 single base substitution A G missense_variant V462A 1385T>C STAD-US 6 111995713 111995713 single base substitution A G missense_variant V465A 1394T>C STAD-US 6 111995792 111995792 single base substitution G T exon_variant STAD-US 6 111995792 111995792 single base substitution G T missense_variant L384M 1150C>A STAD-US 6 111995792 111995792 single base substitution G T missense_variant L387M 1159C>A STAD-US 6 111995792 111995792 single base substitution G T missense_variant L436M 1306C>A STAD-US 6 111995792 111995792 single base substitution G T missense_variant L439M 1315C>A STAD-US 6 111995824 111995824 single base substitution A C exon_variant STAD-US 6 111995824 111995824 single base substitution A C missense_variant F373C 1118T>G STAD-US 6 111995824 111995824 single base substitution A C missense_variant F376C 1127T>G STAD-US 6 111995824 111995824 single base substitution A C missense_variant F425C 1274T>G STAD-US 6 111995824 111995824 single base substitution A C missense_variant F428C 1283T>G STAD-US 6 112015676 112015676 single base substitution C T downstream_gene_variant STAD-US 6 112015676 112015676 single base substitution C T exon_variant STAD-US 6 112015676 112015676 single base substitution C T missense_variant R337Q 1010G>A STAD-US 6 112015676 112015676 single base substitution C T missense_variant R340Q 1019G>A STAD-US 6 112015676 112015676 single base substitution C T missense_variant R389Q 1166G>A STAD-US 6 112015676 112015676 single base substitution C T missense_variant R392Q 1175G>A STAD-US 6 112015695 112015695 single base substitution A G downstream_gene_variant STAD-US 6 112015695 112015695 single base substitution A G exon_variant STAD-US 6 112015695 112015695 single base substitution A G missense_variant Y331H 991T>C STAD-US 6 112015695 112015695 single base substitution A G missense_variant Y334H 1000T>C STAD-US 6 112015695 112015695 single base substitution A G missense_variant Y383H 1147T>C STAD-US 6 112015695 112015695 single base substitution A G missense_variant Y386H 1156T>C STAD-US 6 112024133 112024133 single base substitution G A downstream_gene_variant STAD-US 6 112024133 112024133 single base substitution G A exon_variant STAD-US 6 112024133 112024133 single base substitution G A missense_variant R169W 505C>T STAD-US 6 112024133 112024133 single base substitution G A missense_variant R218W 652C>T STAD-US 6 112024169 112024169 single base substitution G A downstream_gene_variant STAD-US 6 112024169 112024169 single base substitution G A exon_variant STAD-US 6 112024169 112024169 single base substitution G A missense_variant R157C 469C>T STAD-US 6 112024169 112024169 single base substitution G A missense_variant R206C 616C>T STAD-US 6 112025235 112025235 single base substitution T C downstream_gene_variant STAD-US 6 112025235 112025235 single base substitution T C exon_variant STAD-US 6 112025235 112025235 single base substitution T C missense_variant T123A 367A>G STAD-US 6 112025235 112025235 single base substitution T C missense_variant T172A 514A>G STAD-US 6 112025235 112025235 single base substitution T C upstream_gene_variant STAD-US 6 112029214 112029214 single base substitution A G downstream_gene_variant STAD-US 6 112029214 112029214 single base substitution A G exon_variant STAD-US 6 112029214 112029214 single base substitution A G intron_variant STAD-US 6 112029214 112029214 single base substitution A G synonymous_variant D118D 354T>C STAD-US 6 112029214 112029214 single base substitution A G upstream_gene_variant STAD-US 6 112035642 112035642 single base substitution C T exon_variant STAD-US 6 112035642 112035642 single base substitution C T synonymous_variant V67V 201G>A STAD-US 6 112035642 112035642 single base substitution C T synonymous_variant V84V 252G>A STAD-US 6 112041137 112041137 single base substitution G A exon_variant STAD-US 6 112041137 112041137 single base substitution G A missense_variant P40S 118C>T THCA-SA 6 112024122 112024122 deletion of <=200bp A - downstream_gene_variant THCA-SA 6 112024122 112024122 deletion of <=200bp A - exon_variant THCA-SA 6 112024122 112024122 deletion of <=200bp A - frameshift_variant F172 THCA-SA 6 112024122 112024122 deletion of <=200bp A - frameshift_variant F221 THCA-SA 6 112101775 112101775 single base substitution G T 5_prime_UTR_variant THCA-SA 6 112101775 112101775 single base substitution G T exon_variant THCA-SA 6 112101775 112101775 single base substitution G T intron_variant THCA-SA 6 112194496 112194496 single base substitution G C 5_prime_UTR_variant THCA-SA 6 112194496 112194496 single base substitution G C upstream_gene_variant UCEC-US 6 112015624 112015624 single base substitution G A downstream_gene_variant UCEC-US 6 112015624 112015624 single base substitution G A exon_variant UCEC-US 6 112015624 112015624 single base substitution G A synonymous_variant F354F 1062C>T UCEC-US 6 112015624 112015624 single base substitution G A synonymous_variant F357F 1071C>T UCEC-US 6 112015624 112015624 single base substitution G A synonymous_variant F406F 1218C>T UCEC-US 6 112015624 112015624 single base substitution G A synonymous_variant F409F 1227C>T UCEC-US 6 112015662 112015662 single base substitution G T downstream_gene_variant UCEC-US 6 112015662 112015662 single base substitution G T exon_variant UCEC-US 6 112015662 112015662 single base substitution G T missense_variant L342I 1024C>A UCEC-US 6 112015662 112015662 single base substitution G T missense_variant L345I 1033C>A UCEC-US 6 112015662 112015662 single base substitution G T missense_variant L394I 1180C>A UCEC-US 6 112015662 112015662 single base substitution G T missense_variant L397I 1189C>A UCEC-US 6 112015891 112015891 single base substitution G T downstream_gene_variant UCEC-US 6 112015891 112015891 single base substitution G T exon_variant UCEC-US 6 112015891 112015891 single base substitution G T missense_variant F298L 894C>A UCEC-US 6 112015891 112015891 single base substitution G T missense_variant F301L 903C>A UCEC-US 6 112015891 112015891 single base substitution G T missense_variant F350L 1050C>A UCEC-US 6 112015891 112015891 single base substitution G T missense_variant F353L 1059C>A UCEC-US 6 112017578 112017578 single base substitution G A downstream_gene_variant UCEC-US 6 112017578 112017578 single base substitution G A exon_variant UCEC-US 6 112017578 112017578 single base substitution G A missense_variant A260V 779C>T UCEC-US 6 112017578 112017578 single base substitution G A missense_variant A263V 788C>T UCEC-US 6 112017578 112017578 single base substitution G A missense_variant A312V 935C>T UCEC-US 6 112017578 112017578 single base substitution G A missense_variant A315V 944C>T UCEC-US 6 112020771 112020771 single base substitution G A downstream_gene_variant UCEC-US 6 112020771 112020771 single base substitution G A intron_variant UCEC-US 6 112020771 112020771 single base substitution G A missense_variant S218L 653C>T UCEC-US 6 112020771 112020771 single base substitution G A missense_variant S267L 800C>T UCEC-US 6 112020771 112020771 single base substitution G A upstream_gene_variant UCEC-US 6 112020823 112020823 single base substitution T C downstream_gene_variant UCEC-US 6 112020823 112020823 single base substitution T C intron_variant UCEC-US 6 112020823 112020823 single base substitution T C missense_variant T201A 601A>G UCEC-US 6 112020823 112020823 single base substitution T C missense_variant T250A 748A>G UCEC-US 6 112020823 112020823 single base substitution T C upstream_gene_variant UCEC-US 6 112021364 112021364 single base substitution C A downstream_gene_variant UCEC-US 6 112021364 112021364 single base substitution C A exon_variant UCEC-US 6 112021364 112021364 single base substitution C A intron_variant UCEC-US 6 112021364 112021364 single base substitution C A stop_gained E269* 805G>T UCEC-US 6 112021364 112021364 single base substitution C A upstream_gene_variant UCEC-US 6 112041008 112041008 single base substitution C A downstream_gene_variant UCEC-US 6 112041008 112041008 single base substitution C A exon_variant UCEC-US 6 112041008 112041008 single base substitution C A intron_variant UCEC-US 6 112041008 112041008 single base substitution C A splice_region_variant UCEC-US 6 112041008 112041008 single base substitution C A stop_gained G83* 247G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-38-T COSM4550794 c.509G>A p.R170K Substitution - Missense 6:111704037-111704037 - PS-352-2D COSM4423995 c.100C>G p.P34A Substitution - Missense 6:111719952-111719952 - PD1489a COSM13325 c.870G>A p.W290* Substitution - Nonsense 6:111696449-111696449 - I2L-P16-Tumor-Biopsy COSM216729 c.45G>A p.T15T Substitution - coding silent 6:111720007-111720007 - PD0269a COSM21242 c.727G>C p.V243L Substitution - Missense 6:111700239-111700239 - ATL279 COSM5709807 c.1570_1574delTTTAC p.F524fs*10 Deletion - Frameshift 6:111661779-111661783 - SH-9771 COSM1439851 c.569G>A p.R190H Substitution - Missense 6:111703013-111703013 - YUWIA COSM5404176 c.418C>T p.P140S Substitution - Missense 6:111707947-111707947 - P100 COSM5008894 c.1452G>A p.R484R Substitution - coding silent 6:111661901-111661901 - DLD1 COSM1672684 c.1561G>A p.E521K Substitution - Missense 6:111661792-111661792 - ATL268 COSM5709811 c.286C>G p.R96G Substitution - Missense 6:111714405-111714405 - YUPAT COSM1697768 c.292G>A p.E98K Substitution - Missense 6:111714399-111714399 - TCGA-AA-3994-01 COSM298091 c.28G>T p.E10* Substitution - Nonsense 6:111720024-111720024 - YUFLA COSM1697763 c.1532C>T p.P511L Substitution - Missense 6:111661821-111661821 - CRC-02T COSM5455440 c.344+1G>A p.? Unknown 6:111714346-111714346 - PCSI_0019_Pa_P COSM216729 c.45G>A p.T15T Substitution - coding silent 6:111720007-111720007 - 587376 COSM1207700 c.327T>G p.F109L Substitution - Missense 6:111714364-111714364 - TCGA-BR-8680-01 COSM3857637 c.1283T>G p.F428C Substitution - Missense 6:111674621-111674621 - 2492721 COSM5720740 c.185C>T p.T62I Substitution - Missense 6:111719867-111719867 - PD0269a COSM21242 c.727G>C p.V243L Substitution - Missense 6:111700239-111700239 - CSCC-47-T COSM4562680 c.939G>A p.E313E Substitution - coding silent 6:111696380-111696380 - CSCC-31-T COSM216729 c.45G>A p.T15T Substitution - coding silent 6:111720007-111720007 - HCT-15 COSM1672684 c.1561G>A p.E521K Substitution - Missense 6:111661792-111661792 - CHEWS002 COSM4586156 c.1483C>T p.L495L Substitution - coding silent 6:111661870-111661870 - PCSI_0264_Pa_P_526 COSM4965607 c.500G>A p.G167E Substitution - Missense 6:111704046-111704046 - TCGA-22-5472-01 COSM739619 c.1376T>C p.L459P Substitution - Missense 6:111674528-111674528 - ATL117 COSM5709809 c.1566C>G p.D522E Substitution - Missense 6:111661787-111661787 - B89-12 COSM1754433 c.258C>G p.L86L Substitution - coding silent 6:111714433-111714433 - SC_9097 COSM5546881 c.353_364del12 p.D118_E121delDWWE Deletion - In frame 6:111708001-111708012 - TCGA-A6-6141-01 COSM281268 c.616C>T p.R206C Substitution - Missense 6:111702966-111702966 - T22 COSM5618075 c.239G>A p.G80E Substitution - Missense 6:111719813-111719813 - ATL415 COSM5709807 c.1570_1574delTTTAC p.F524fs*10 Deletion - Frameshift 6:111661779-111661783 - YUMER COSM1697765 c.1298C>T p.T433M Substitution - Missense 6:111674606-111674606 - TCGA-UC-A7PF-01 COSM4830259 c.359G>T p.W120L Substitution - Missense 6:111708006-111708006 - TCGA-B0-5083-01 COSM1496220 c.1220C>T p.A407V Substitution - Missense 6:111694428-111694428 - S12-11594-TP COSM4992391 c.831G>A p.L277L Substitution - coding silent 6:111700135-111700135 - 3206A7_017_T COSM5038980 c.571G>T p.D191Y Substitution - Missense 6:111703011-111703011 - TCGA-A6-6653-01 COSM201285 c.481C>T p.R161* Substitution - Nonsense 6:111704065-111704065 - PD0269a COSM21242 c.727G>C p.V243L Substitution - Missense 6:111700239-111700239 - TCGA-EP-A2KB-01 COSM4921357 c.729A>G p.V243V Substitution - coding silent 6:111700237-111700237 - T3144 COSM4685937 c.1514delA p.K505fs*>33 Deletion - Frameshift 6:111661839-111661839 - 2492720 COSM5720740 c.185C>T p.T62I Substitution - Missense 6:111719867-111719867 - TCGA-AZ-4615-01 COSM3697454 c.1488T>C p.H496H Substitution - coding silent 6:111661865-111661865 - 2497773 COSM5750497 c.575G>T p.W192L Substitution - Missense 6:111703007-111703007 - sysucc-783T COSM5484801 c.14A>G p.Q5R Substitution - Missense 6:111720038-111720038 - 2492722 COSM5720740 c.185C>T p.T62I Substitution - Missense 6:111719867-111719867 - TCGA-70-6723-01 COSM739618 c.1324A>G p.R442G Substitution - Missense 6:111674580-111674580 - 145T COSM1725728 c.44C>T p.T15M Substitution - Missense 6:111720008-111720008 - ATL246 COSM5709811 c.286C>G p.R96G Substitution - Missense 6:111714405-111714405 - PT32 COSM5907411 c.1512A>T p.K504N Substitution - Missense 6:111661841-111661841 - TCGA-DD-A4NQ-01 COSM4941109 c.297T>C p.D99D Substitution - coding silent 6:111714394-111714394 - pfg065T COSM4747768 c.388_404del17 p.T130fs*7 Deletion - Frameshift 6:111707961-111707977 - PT37 COSM5918947 c.866C>T p.T289I Substitution - Missense 6:111696453-111696453 - 260211 COSM3725756 c.1081G>T p.A361S Substitution - Missense 6:111694666-111694666 - KPOPBR-46-T COSM5964716 c.862+8G>A p.? Unknown 6:111700096-111700096 - ATL160 COSM5709805 c.1588C>T p.Q530* Substitution - Nonsense 6:111661765-111661765 - PD0269a COSM21242 c.727G>C p.V243L Substitution - Missense 6:111700239-111700239 - 2318492 COSM4776928 c.1442G>A p.R481Q Substitution - Missense 6:111661911-111661911 - TCGA-76-6657-01 COSM3410536 c.1087A>G p.K363E Substitution - Missense 6:111694660-111694660 - TCGA-CD-A4MI-01 COSM3857633 c.1394T>C p.V465A Substitution - Missense 6:111674510-111674510 - LP6005500-DNA_F02 COSM5037379 c.568C>T p.R190C Substitution - Missense 6:111703014-111703014 - HCT15 COSM1672684 c.1561G>A p.E521K Substitution - Missense 6:111661792-111661792 - TCGA-AX-A05Z-01 COSM1072254 c.1059C>A p.F353L Substitution - Missense 6:111694688-111694688 - TCGA-CM-6162-01 COSM1439851 c.569G>A p.R190H Substitution - Missense 6:111703013-111703013 - CSCC-27-T COSM4545323 c.375G>A p.L125L Substitution - coding silent 6:111707990-111707990 - 86563 COSM48987 c.1042+1G>A p.? Unknown 6:111696276-111696276 - Pat_60_B COSM4685937 c.1514delA p.K505fs*>33 Deletion - Frameshift 6:111661839-111661839 - TCGA-D3-A2J8-06 COSM3619584 c.1352C>T p.S451F Substitution - Missense 6:111674552-111674552 - ATL014 COSM4172396 c.526C>T p.R176C Substitution - Missense 6:111704020-111704020 - TCGA-CG-4455-01 COSM3857645 c.354T>C p.D118D Substitution - coding silent 6:111708011-111708011 - TCGA-HU-A4H8-01 COSM3857639 c.1156T>C p.Y386H Substitution - Missense 6:111694492-111694492 - TCGA-43-5668-01 COSM739616 c.315A>T p.K105N Substitution - Missense 6:111714376-111714376 - 3N59-VS-3T59 COSM4984238 c.1014C>G p.I338M Substitution - Missense 6:111696305-111696305 - TCGA-66-2771-01 COSM739617 c.1003G>C p.E335Q Substitution - Missense 6:111696316-111696316 - CSCC-31-T COSM4460349 c.1162C>T p.H388Y Substitution - Missense 6:111694486-111694486 - STC297 COSM5061341 c.59G>A p.G20D Substitution - Missense 6:111719993-111719993 - TCGA-IR-A3LK-01 COSM4817216 c.1540G>A p.E514K Substitution - Missense 6:111661813-111661813 - TCGA-GN-A269-01 COSM3619588 c.328C>T p.Q110* Substitution - Nonsense 6:111714363-111714363 - TCGA-CG-4306-01 COSM3857631 c.1451G>T p.R484M Substitution - Missense 6:111661902-111661902 - TCGA-BC-A5W4-01 COSM4911506 c.1605A>C p.E535D Substitution - Missense 6:111661748-111661748 - BCM399T COSM4950023 c.1432C>T p.Q478* Substitution - Nonsense 6:111661921-111661921 - T578 COSM4685941 c.1216A>G p.I406V Substitution - Missense 6:111694432-111694432 - CHC2099T COSM4793277 c.974A>C p.K325T Substitution - Missense 6:111696345-111696345 - PTC_285 COSM5958634 c.663delT p.F221fs*22 Deletion - Frameshift 6:111702919-111702919 - 3N40-VS-3T40 COSM4776928 c.1442G>A p.R481Q Substitution - Missense 6:111661911-111661911 - DLD1 COSM4625651 c.230G>A p.R77H Substitution - Missense 6:111719822-111719822 - 24 COSM4777949 c.821T>G p.I274S Substitution - Missense 6:111700145-111700145 - PT25 COSM5904828 c.1229G>T p.G410V Substitution - Missense 6:111694419-111694419 - TCGA-AP-A051-01 COSM1072259 c.247G>T p.G83* Substitution - Nonsense 6:111719805-111719805 - ATL309 COSM5709811 c.286C>G p.R96G Substitution - Missense 6:111714405-111714405 - CSCC-20-T COSM4523690 c.1229G>A p.G410E Substitution - Missense 6:111694419-111694419 - PTC-7C COSM4160132 c.1606A>C p.N536H Substitution - Missense 6:111661747-111661747 - CSCC-27-T COSM281268 c.616C>T p.R206C Substitution - Missense 6:111702966-111702966 - TCGA-FW-A3R5-06 COSM3920604 c.770C>T p.S257F Substitution - Missense 6:111700196-111700196 - TCGA-D8-A1X5-01 COSM1487143 c.1050A>G p.L350L Substitution - coding silent 6:111694697-111694697 - TCGA-GC-A3I6-01 COSM1311477 c.1479C>T p.I493I Substitution - coding silent 6:111661874-111661874 - Patient_4 COSM201285 c.481C>T p.R161* Substitution - Nonsense 6:111704065-111704065 - HN_00761 COSM123288 c.16T>C p.C6R Substitution - Missense 6:111720036-111720036 - BD236T COSM4821384 c.57C>T p.D19D Substitution - coding silent 6:111719995-111719995 - YUKSI COSM5404174 c.920C>G p.S307C Substitution - Missense 6:111696399-111696399 - TCGA-B0-4707-01 COSM3366211 c.1002T>A p.S334S Substitution - coding silent 6:111696317-111696317 - CSCC-44-T COSM4573080 c.962T>G p.L321R Substitution - Missense 6:111696357-111696357 - YUOTHO COSM5404172 c.921C>T p.S307S Substitution - coding silent 6:111696398-111696398 - CSCC-16-T COSM4560897 c.861G>A p.M287I Substitution - Missense 6:111700105-111700105 - B89-12-Tumor COSM1754433 c.258C>G p.L86L Substitution - coding silent 6:111714433-111714433 - TCGA-22-5472-01 COSM739621 c.1377G>T p.L459L Substitution - coding silent 6:111674527-111674527 - PD1489a COSM13325 c.870G>A p.W290* Substitution - Nonsense 6:111696449-111696449 - PT49 COSM281268 c.616C>T p.R206C Substitution - Missense 6:111702966-111702966 - PD9756a COSM5794641 c.102C>T p.P34P Substitution - coding silent 6:111719950-111719950 - T3225 COSM1439851 c.569G>A p.R190H Substitution - Missense 6:111703013-111703013 - P100 COSM5008899 c.244A>G p.T82A Substitution - Missense 6:111719808-111719808 - LUAD-F00365 COSM340753 c.1286C>T p.P429L Substitution - Missense 6:111674618-111674618 - P15 COSM5009581 c.1412A>C p.N471T Substitution - Missense 6:111661941-111661941 - P100 COSM5008896 c.828A>G p.R276R Substitution - coding silent 6:111700138-111700138 - ATL094 COSM5709801 c.1594C>T p.Q532* Substitution - Nonsense 6:111661759-111661759 - TCGA-B0-5095-01 COSM483284 c.1535C>A p.T512N Substitution - Missense 6:111661818-111661818 - BCN30 COSM4172398 c.521T>G p.L174R Substitution - Missense 6:111704025-111704025 - SNU-C1 COSM3156590 c.296A>T p.D99V Substitution - Missense 6:111714395-111714395 - TCGA-BR-4362-01 COSM3857643 c.514A>G p.T172A Substitution - Missense 6:111704032-111704032 - SW48 COSM3156545 c.1544A>G p.Y515C Substitution - Missense 6:111661809-111661809 - TCGA-CG-5721-01 COSM3156562 c.1175G>A p.R392Q Substitution - Missense 6:111694473-111694473 - Pat_06_B COSM4685937 c.1514delA p.K505fs*>33 Deletion - Frameshift 6:111661839-111661839 - TCGA-B5-A0JY-01 COSM1072253 c.1189C>A p.L397I Substitution - Missense 6:111694459-111694459 - P100 COSM5008897 c.408T>G p.N136K Substitution - Missense 6:111707957-111707957 - I2L-P19Tb-Tumor-Organoid COSM3156574 c.687_689delACA p.Q229delQ Deletion - In frame 6:111702893-111702895 - D3 COSM5006706 c.1174C>T p.R392* Substitution - Nonsense 6:111694474-111694474 - TCGA-EK-A2R8-01 COSM4822776 c.478G>A p.E160K Substitution - Missense 6:111704068-111704068 - P134 COSM5009992 c.925G>A p.E309K Substitution - Missense 6:111696394-111696394 - TCGA-GN-A267-06 COSM3156588 c.328C>A p.Q110K Substitution - Missense 6:111714363-111714363 - TCGA-F5-6812-01 COSM1568126 c.87C>A p.R29R Substitution - coding silent 6:111719965-111719965 - Pat_28_B COSM5869118 c.283G>A p.A95T Substitution - Missense 6:111714408-111714408 - TCGA-33-4566-01 COSM739615 c.85C>G p.R29G Substitution - Missense 6:111719967-111719967 - HCC2998 COSM3156588 c.328C>A p.Q110K Substitution - Missense 6:111714363-111714363 - T3262 COSM3156596 c.210G>A p.S70S Substitution - coding silent 6:111719842-111719842 - S0029 COSM5884283 c.833G>A p.G278E Substitution - Missense 6:111700133-111700133 - ATL113 COSM4172396 c.526C>T p.R176C Substitution - Missense 6:111704020-111704020 - TCGA-G2-A2EJ-01 COSM1311479 c.328C>G p.Q110E Substitution - Missense 6:111714363-111714363 - TCGA-C5-A7CJ-01 COSM4821384 c.57C>T p.D19D Substitution - coding silent 6:111719995-111719995 - TCGA-D7-A4YV-01 COSM3857641 c.652C>T p.R218W Substitution - Missense 6:111702930-111702930 - S12-23181-TP COSM4992392 c.455G>A p.G152E Substitution - Missense 6:111704091-111704091 - ATL356 COSM5709805 c.1588C>T p.Q530* Substitution - Nonsense 6:111661765-111661765 - MZ7-mel COSM21151 c.1228G>A p.G410R Substitution - Missense 6:111694420-111694420 - SH-2871 COSM5019630 c.1518C>G p.D506E Substitution - Missense 6:111661835-111661835 - CSCC-40-T COSM4549316 c.46G>A p.E16K Substitution - Missense 6:111720006-111720006 - TCGA-GF-A6C9-06 COSM4902364 c.809C>T p.S270F Substitution - Missense 6:111700157-111700157 - MZ7-mel COSM21151 c.1228G>A p.G410R Substitution - Missense 6:111694420-111694420 - ATL272 COSM1544672 c.287G>A p.R96Q Substitution - Missense 6:111714404-111714404 - PCSI0019 COSM216729 c.45G>A p.T15T Substitution - coding silent 6:111720007-111720007 - CHC2099T COSM4793277 c.974A>C p.K325T Substitution - Missense 6:111696345-111696345 - 17156 COSM48987 c.1042+1G>A p.? Unknown 6:111696276-111696276 - 6115233 COSM5557744 c.546A>T p.K182N Substitution - Missense 6:111704000-111704000 - 587234 COSM1207698 c.229C>T p.R77C Substitution - Missense 6:111719823-111719823 - TCGA-BS-A0UF-01 COSM1072257 c.805G>T p.E269* Substitution - Nonsense 6:111700161-111700161 - 6115114 COSM5557952 c.966G>A p.K322K Substitution - coding silent 6:111696353-111696353 - S02291 COSM5687075 c.1612T>C p.*538Q Nonstop extension 6:111661741-111661741 - TCGA-CM-5341-01 COSM1439856 c.127G>A p.G43S Substitution - Missense 6:111719925-111719925 - 2492723 COSM5720740 c.185C>T p.T62I Substitution - Missense 6:111719867-111719867 - TCGA-AP-A0LM-01 COSM1072255 c.944C>T p.A315V Substitution - Missense 6:111696375-111696375 - 61 COSM5737730 c.1515G>T p.K505N Substitution - Missense 6:111661838-111661838 - T578 COSM4685939 c.1344C>T p.D448D Substitution - coding silent 6:111674560-111674560 - PD7220a COSM5199618 c.163G>A p.A55T Substitution - Missense 6:111719889-111719889 - PD11760a COSM5786632 c.1026C>A p.T342T Substitution - coding silent 6:111696293-111696293 - CSCC-6-T COSM4509160 c.799C>T p.P267S Substitution - Missense 6:111700167-111700167 - TCGA-D7-A4YY-01 COSM281268 c.616C>T p.R206C Substitution - Missense 6:111702966-111702966 - 24 COSM4172394 c.1591T>C p.Y531H Substitution - Missense 6:111661762-111661762 - MCF7 COSM1672686 c.980T>C p.V327A Substitution - Missense 6:111696339-111696339 - LUAD-CHTN-3090416 COSM357642 c.1503C>G p.H501Q Substitution - Missense 6:111661850-111661850 - BCN6 COSM4172396 c.526C>T p.R176C Substitution - Missense 6:111704020-111704020 - 17759 COSM48929 c.355_356insA p.W119fs*1 Insertion - Frameshift 6:111708009-111708010 - PCSI_0169_Pa_P_526 COSM5762158 c.1402C>A p.P468T Substitution - Missense 6:111674502-111674502 - TCGA-EI-6917-01 COSM281268 c.616C>T p.R206C Substitution - Missense 6:111702966-111702966 - TCGA-BR-A4J6-01 COSM3857647 c.252G>A p.V84V Substitution - coding silent 6:111714439-111714439 - TCGA-BR-4363-01 COSM3857635 c.1315C>A p.L439M Substitution - Missense 6:111674589-111674589 - TCGA-BR-6452-01 COSM3857649 c.118C>T p.P40S Substitution - Missense 6:111719934-111719934 - TCGA-EO-A1Y8-01 COSM1072252 c.1227C>T p.F409F Substitution - coding silent 6:111694421-111694421 - ATLL_A-01 COSM4172396 c.526C>T p.R176C Substitution - Missense 6:111704020-111704020 - TCGA-BG-A0LX-01 COSM1072258 c.530A>G p.E177G Substitution - Missense 6:111704016-111704016 - TCGA-GN-A266-06 COSM3619586 c.466C>T p.R156* Substitution - Nonsense 6:111704080-111704080 - PCSI_0161_Pa_P_526 COSM1725728 c.44C>T p.T15M Substitution - Missense 6:111720008-111720008 - BCN9 COSM4172396 c.526C>T p.R176C Substitution - Missense 6:111704020-111704020 - BCM399T COSM4950023 c.1432C>T p.Q478* Substitution - Nonsense 6:111661921-111661921 - TCGA-AA-A010-01 COSM281268 c.616C>T p.R206C Substitution - Missense 6:111702966-111702966 - PT35 COSM5912420 c.902T>A p.L301H Substitution - Missense 6:111696417-111696417 - 385 COSM4427022 c.233C>T p.T78M Substitution - Missense 6:111719819-111719819 - ATL137 COSM5709803 c.1591T>G p.Y531D Substitution - Missense 6:111661762-111661762 - ATL157 COSM1544672 c.287G>A p.R96Q Substitution - Missense 6:111714404-111714404 - TCGA-AZ-4315-01 COSM281268 c.616C>T p.R206C Substitution - Missense 6:111702966-111702966 - HT115 COSM201285 c.481C>T p.R161* Substitution - Nonsense 6:111704065-111704065 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.390459;Hs.390542;Hs.390567 6q21 137025

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.C6R c.16T>C 6 112041239 HNSC A G Missense p.L459P c.1376T>C 6 111995731 LUSC A G Synonymous p.D118D c.354T>C 6 112029214 STAD A T Missense p.F103L c.309T>A 6 112035585 HNSC A T Synonymous p.S334S c.1002T>A 6 112017520 RCCC C A IntronicSNV . c.862+500G>T 6 112020807 LUAD C A Missense p.R484M c.1451G>T 6 111983105 STAD C A Nonsense p.E10* c.28G>T 6 112041227 COREAD C A Synonymous p.L459L c.1377G>T 6 111995730 LUSC CC TT Missense p.G304N c.910_911delinsAA 6 112017611 CM C G Missense p.E335Q c.1003G>C 6 112017519 LUSC C T Missense p.G57R c.169G>A 6 112041086 LUAD C T SpliceDonorSNV . c.1042+1G>A 6 112017479 LUAD C T Synonymous p.T15T c.45G>A 6 112041210 PAAD GAA - IntronicDeletion . c.548-147_548-145delTTC 6 112024382 ESCA G A Missense p.S451F c.1352C>T 6 111995755 CM G A Nonsense p.Q110* c.328C>T 6 112035566 CM G A Synonymous p.F409F c.1227C>T 6 112015624 UCEC G A Synonymous p.I493I c.1479C>T 6 111983077 BLCA G A Synonymous p.S307S c.921C>T 6 112017601 CM G C Missense p.Q110E c.328C>G 6 112035566 BLCA G C Missense p.R123G c.367C>G 6 112029201 BRCA G T IntronicSNV . c.863-287C>A 6 112017946 HC G T Missense p.L439M c.1315C>A 6 111995792 STAD G T Missense p.Q110K c.328C>A 6 112035566 CM G T Missense p.T512N c.1535C>A 6 111983021 RCCC T A Missense p.K105N c.315A>T 6 112035579 LUSC T A Missense p.K347N c.1041A>T 6 112017481 HNSC T A Missense p.N168I c.503A>T 6 112025246 LUAD T A Synonymous p.V228V c.684A>T 6 112024101 LUAD T C IntronicSNV . c.862+152A>G 6 112021155 HC T C Missense p.K363E c.1087A>G 6 112015863 GBM T C Missense p.R442G c.1324A>G 6 111995783 LUSC T C Synonymous p.L350L c.1050A>G 6 112015900 BRCA T - Frameshift p.K505Rfs*35 c.1514delA 6 111983042 CM T - Frameshift p.K505Rfs*35 c.1514delA 6 111983042 THCA - T Frameshift p.W119Mfs*24 c.354_355insA 6 112029213 LUAD