Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 6 152129382 152129382 + Missense_Mutation SNP A A C TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 g.chr6:152129382A>C c.335A>C c.(334-336)cAc>cCc p.H112P ACC 6 152201872 152201872 + Silent SNP C C G TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr6:152201872C>G c.726C>G c.(724-726)ctC>ctG p.L242L BLCA 6 152201851 152201851 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr6:152201851G>C c.705G>C c.(703-705)aaG>aaC p.K235N BLCA 6 152265421 152265421 + Missense_Mutation SNP T T C TCGA-XF-A9SL-01A-11D-A391-08 TCGA-XF-A9SL-10A-01D-A394-08 g.chr6:152265421T>C c.874T>C c.(874-876)Tgg>Cgg p.W292R BLCA 6 152265629 152265629 + Missense_Mutation SNP C C A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 g.chr6:152265629C>A c.1082C>A c.(1081-1083)gCg>gAg p.A361E BLCA 6 152265629 152265629 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 g.chr6:152265629C>T c.1082C>T c.(1081-1083)gCg>gTg p.A361V BLCA 6 152382165 152382165 + Silent SNP C C T TCGA-XF-AAMQ-01A-11D-A42E-08 TCGA-XF-AAMQ-10A-01D-A42H-08 g.chr6:152382165C>T c.1275C>T c.(1273-1275)ttC>ttT p.F425F BLCA 6 152420078 152420078 + Missense_Mutation SNP G G C TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr6:152420078G>C c.1765G>C c.(1765-1767)Gag>Cag p.E589Q BRCA 6 152129128 152129131 + Frame_Shift_Del DEL CCGT CCGT - TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 g.chr6:152129128_152129131delCCGT c.81_84delCCGT c.(79-84)aaccgtfs p.NR27fs BRCA 6 152201810 152201810 + Missense_Mutation SNP C C T TCGA-BH-A0DS-01A-11W-A071-09 TCGA-BH-A0DS-10A-01W-A071-09 g.chr6:152201810C>T c.664C>T c.(664-666)Cca>Tca p.P222S BRCA 6 152265369 152265369 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr6:152265369G>A c.822G>A c.(820-822)ggG>ggA p.G274G BRCA 6 152332832 152332832 + Missense_Mutation SNP G G C TCGA-D8-A27V-01A-12D-A17D-09 TCGA-D8-A27V-10A-01D-A17D-09 g.chr6:152332832G>C c.1138G>C c.(1138-1140)Gaa>Caa p.E380Q BRCA 6 152382234 152382234 + Silent SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr6:152382234C>G c.1344C>G c.(1342-1344)ctC>ctG p.L448L BRCA 6 152419880 152419880 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr6:152419880G>C c.1567G>C c.(1567-1569)Gag>Cag p.E523Q BRCA 6 152420091 152420091 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr6:152420091C>A c.1778C>A c.(1777-1779)gCc>gAc p.A593D CESC 6 152163896 152163896 + Missense_Mutation SNP A A G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr6:152163896A>G c.617A>G c.(616-618)aAg>aGg p.K206R COAD 6 152129072 152129072 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:152129072G>A c.25G>A c.(25-27)Gca>Aca p.A9T COAD 6 152129201 152129201 + Missense_Mutation SNP T T C TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr6:152129201T>C c.154T>C c.(154-156)Tac>Cac p.Y52H COAD 6 152129249 152129249 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr6:152129249G>A c.202G>A c.(202-204)Gcc>Acc p.A68T COAD 6 152129287 152129287 + Frame_Shift_Del DEL C C - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr6:152129287delC c.240delC c.(238-240)tacfs p.Y80fs COAD 6 152163748 152163748 + Nonsense_Mutation SNP C C T TCGA-AA-3982-01A-02W-0995-10 TCGA-AA-3982-10A-01W-0999-10 g.chr6:152163748C>T c.469C>T c.(469-471)Cga>Tga p.R157* COAD 6 152201827 152201827 + Nonsense_Mutation SNP C C A TCGA-AA-3858-01A-01W-0900-09 TCGA-AA-3858-10A-01W-0900-09 g.chr6:152201827C>A c.681C>A c.(679-681)tgC>tgA p.C227* COAD 6 152201885 152201885 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:152201885G>A c.739G>A c.(739-741)Gaa>Aaa p.E247K COAD 6 152265314 152265314 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr6:152265314G>A c.767G>A c.(766-768)cGa>cAa p.R256Q COAD 6 152265323 152265323 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr6:152265323G>A c.776G>A c.(775-777)cGa>cAa p.R259Q COAD 6 152265339 152265339 + Missense_Mutation SNP G G T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr6:152265339G>T c.792G>T c.(790-792)atG>atT p.M264I COAD 6 152265418 152265418 + Missense_Mutation SNP C C A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr6:152265418C>A c.871C>A c.(871-873)Ctt>Att p.L291I COAD 6 152265432 152265432 + Silent SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr6:152265432G>A c.885G>A c.(883-885)ccG>ccA p.P295P COAD 6 152265466 152265466 + Missense_Mutation SNP G G T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr6:152265466G>T c.919G>T c.(919-921)Gcc>Tcc p.A307S COAD 6 152265479 152265479 + Missense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr6:152265479C>T c.932C>T c.(931-933)aCg>aTg p.T311M COAD 6 152265482 152265482 + Missense_Mutation SNP C C T TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr6:152265482C>T c.935C>T c.(934-936)gCc>gTc p.A312V COAD 6 152265534 152265534 + Silent SNP C C A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr6:152265534C>A c.987C>A c.(985-987)tcC>tcA p.S329S COAD 6 152265569 152265569 + Nonsense_Mutation SNP C C A TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr6:152265569C>A c.1022C>A c.(1021-1023)tCg>tAg p.S341* COAD 6 152265570 152265570 + Silent SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr6:152265570G>A c.1023G>A c.(1021-1023)tcG>tcA p.S341S COAD 6 152332911 152332911 + Missense_Mutation SNP C C A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr6:152332911C>A c.1217C>A c.(1216-1218)cCt>cAt p.P406H COAD 6 152382219 152382219 + Missense_Mutation SNP G G T TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr6:152382219G>T c.1329G>T c.(1327-1329)gaG>gaT p.E443D COAD 6 152419869 152419869 + Missense_Mutation SNP A A G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:152419869A>G c.1556A>G c.(1555-1557)aAc>aGc p.N519S COAD 6 152419948 152419948 + Silent SNP C C T TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr6:152419948C>T c.1635C>T c.(1633-1635)gaC>gaT p.D545D COAD 6 152419956 152419956 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr6:152419956G>A c.1643G>A c.(1642-1644)cGc>cAc p.R548H COAD 6 152420067 152420067 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr6:152420067C>T c.1754C>T c.(1753-1755)aCg>aTg p.T585M COADREAD 6 152129072 152129072 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:152129072G>A c.25G>A c.(25-27)Gca>Aca p.A9T COADREAD 6 152129201 152129201 + Missense_Mutation SNP T T C TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr6:152129201T>C c.154T>C c.(154-156)Tac>Cac p.Y52H COADREAD 6 152129249 152129249 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr6:152129249G>A c.202G>A c.(202-204)Gcc>Acc p.A68T COADREAD 6 152129287 152129287 + Frame_Shift_Del DEL C C - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr6:152129287delC c.240delC c.(238-240)tacfs p.Y80fs COADREAD 6 152163748 152163748 + Nonsense_Mutation SNP C C T TCGA-AA-3982-01A-02W-0995-10 TCGA-AA-3982-10A-01W-0999-10 g.chr6:152163748C>T c.469C>T c.(469-471)Cga>Tga p.R157* COADREAD 6 152163847 152163847 + Missense_Mutation SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr6:152163847G>A c.568G>A c.(568-570)Gac>Aac p.D190N COADREAD 6 152201827 152201827 + Nonsense_Mutation SNP C C A TCGA-AA-3858-01A-01W-0900-09 TCGA-AA-3858-10A-01W-0900-09 g.chr6:152201827C>A c.681C>A c.(679-681)tgC>tgA p.C227* COADREAD 6 152201885 152201885 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:152201885G>A c.739G>A c.(739-741)Gaa>Aaa p.E247K COADREAD 6 152265314 152265314 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr6:152265314G>A c.767G>A c.(766-768)cGa>cAa p.R256Q COADREAD 6 152265323 152265323 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr6:152265323G>A c.776G>A c.(775-777)cGa>cAa p.R259Q COADREAD 6 152265339 152265339 + Missense_Mutation SNP G G T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr6:152265339G>T c.792G>T c.(790-792)atG>atT p.M264I COADREAD 6 152265418 152265418 + Missense_Mutation SNP C C A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr6:152265418C>A c.871C>A c.(871-873)Ctt>Att p.L291I COADREAD 6 152265432 152265432 + Silent SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr6:152265432G>A c.885G>A c.(883-885)ccG>ccA p.P295P COADREAD 6 152265466 152265466 + Missense_Mutation SNP G G T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr6:152265466G>T c.919G>T c.(919-921)Gcc>Tcc p.A307S COADREAD 6 152265479 152265479 + Missense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr6:152265479C>T c.932C>T c.(931-933)aCg>aTg p.T311M COADREAD 6 152265482 152265482 + Missense_Mutation SNP C C T TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr6:152265482C>T c.935C>T c.(934-936)gCc>gTc p.A312V COADREAD 6 152265534 152265534 + Silent SNP C C A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr6:152265534C>A c.987C>A c.(985-987)tcC>tcA p.S329S COADREAD 6 152265569 152265569 + Nonsense_Mutation SNP C C A TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr6:152265569C>A c.1022C>A c.(1021-1023)tCg>tAg p.S341* COADREAD 6 152265570 152265570 + Silent SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr6:152265570G>A c.1023G>A c.(1021-1023)tcG>tcA p.S341S COADREAD 6 152332911 152332911 + Missense_Mutation SNP C C A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr6:152332911C>A c.1217C>A c.(1216-1218)cCt>cAt p.P406H COADREAD 6 152382219 152382219 + Missense_Mutation SNP G G T TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr6:152382219G>T c.1329G>T c.(1327-1329)gaG>gaT p.E443D COADREAD 6 152419869 152419869 + Missense_Mutation SNP A A G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:152419869A>G c.1556A>G c.(1555-1557)aAc>aGc p.N519S COADREAD 6 152419948 152419948 + Silent SNP C C T TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr6:152419948C>T c.1635C>T c.(1633-1635)gaC>gaT p.D545D COADREAD 6 152419956 152419956 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr6:152419956G>A c.1643G>A c.(1642-1644)cGc>cAc p.R548H COADREAD 6 152420067 152420067 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr6:152420067C>T c.1754C>T c.(1753-1755)aCg>aTg p.T585M DLBC 6 152201863 152201863 + Silent SNP C C T TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr6:152201863C>T c.717C>T c.(715-717)gcC>gcT p.A239A ESCA 6 152129213 152129213 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 g.chr6:152129213G>A c.166G>A c.(166-168)Gag>Aag p.E56K ESCA 6 152265466 152265466 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr6:152265466G>T c.919G>T c.(919-921)Gcc>Tcc p.A307S ESCA 6 152265535 152265535 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 g.chr6:152265535G>A c.988G>A c.(988-990)Gag>Aag p.E330K ESCA 6 152265629 152265629 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 g.chr6:152265629C>T c.1082C>T c.(1081-1083)gCg>gTg p.A361V ESCA 6 152332850 152332850 + Missense_Mutation SNP A A G TCGA-V5-AASW-01A-11D-A403-09 TCGA-V5-AASW-10A-01D-A403-09 g.chr6:152332850A>G c.1156A>G c.(1156-1158)Atc>Gtc p.I386V ESCA 6 152415668 152415668 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr6:152415668G>T c.1518G>T c.(1516-1518)caG>caT p.Q506H GBM 6 152163775 152163775 + Missense_Mutation SNP G G T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 g.chr6:152163775G>T c.496G>T c.(496-498)Gcc>Tcc p.A166S GBM 6 152265483 152265483 + Silent SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 g.chr6:152265483C>T c.936C>T c.(934-936)gcC>gcT p.A312A GBMLGG 6 152163775 152163775 + Missense_Mutation SNP G G T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 g.chr6:152163775G>T c.496G>T c.(496-498)Gcc>Tcc p.A166S GBMLGG 6 152265483 152265483 + Silent SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 g.chr6:152265483C>T c.936C>T c.(934-936)gcC>gcT p.A312A GBMLGG 6 152332875 152332875 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:152332875G>A c.1181G>A c.(1180-1182)cGc>cAc p.R394H GBMLGG 6 152419955 152419955 + Missense_Mutation SNP C C T TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 g.chr6:152419955C>T c.1642C>T c.(1642-1644)Cgc>Tgc p.R548C HNSC 6 152129337 152129338 + Frame_Shift_Ins INS - - C TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 g.chr6:152129337_152129338insC c.290_291insC c.(289-294)ttccccfs p.FP97fs HNSC 6 152129446 152129446 + Silent SNP G G A TCGA-CN-5361-01A-01D-1434-08 TCGA-CN-5361-10A-01D-1434-08 g.chr6:152129446G>A c.399G>A c.(397-399)gaG>gaA p.E133E HNSC 6 152163816 152163816 + Silent SNP C C A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 g.chr6:152163816C>A c.537C>A c.(535-537)gcC>gcA p.A179A HNSC 6 152163838 152163838 + Missense_Mutation SNP G G T TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr6:152163838G>T c.559G>T c.(559-561)Gtg>Ttg p.V187L HNSC 6 152163869 152163869 + Missense_Mutation SNP A A G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 g.chr6:152163869A>G c.590A>G c.(589-591)tAt>tGt p.Y197C HNSC 6 152265497 152265497 + Missense_Mutation SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr6:152265497G>T c.950G>T c.(949-951)aGt>aTt p.S317I HNSC 6 152332804 152332804 + Missense_Mutation SNP G G T TCGA-BB-A5HY-01A-11D-A28R-08 TCGA-BB-A5HY-10A-01D-A28U-08 g.chr6:152332804G>T c.1110G>T c.(1108-1110)ttG>ttT p.L370F HNSC 6 152382208 152382208 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr6:152382208C>T c.1318C>T c.(1318-1320)Ctg>Ttg p.L440L KIPAN 6 152201893 152201893 + Silent SNP A A G TCGA-BQ-7048-01A-11D-1961-08 TCGA-BQ-7048-11A-01D-1961-08 g.chr6:152201893A>G c.747A>G c.(745-747)ggA>ggG p.G249G KIPAN 6 152265601 152265601 + Silent SNP A A C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr6:152265601A>C c.1054A>C c.(1054-1056)Agg>Cgg p.R352R KIPAN 6 152382174 152382174 + Silent SNP G G T TCGA-CJ-5678-01A-11D-1534-10 TCGA-CJ-5678-11A-01D-1534-10 g.chr6:152382174G>T c.1284G>T c.(1282-1284)ctG>ctT p.L428L KIRC 6 152265601 152265601 + Silent SNP A A C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr6:152265601A>C c.1054A>C c.(1054-1056)Agg>Cgg p.R352R KIRC 6 152382174 152382174 + Silent SNP G G T TCGA-CJ-5678-01A-11D-1534-10 TCGA-CJ-5678-11A-01D-1534-10 g.chr6:152382174G>T c.1284G>T c.(1282-1284)ctG>ctT p.L428L KIRP 6 152201893 152201893 + Silent SNP A A G TCGA-BQ-7048-01A-11D-1961-08 TCGA-BQ-7048-11A-01D-1961-08 g.chr6:152201893A>G c.747A>G c.(745-747)ggA>ggG p.G249G LGG 6 152332875 152332875 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:152332875G>A c.1181G>A c.(1180-1182)cGc>cAc p.R394H LGG 6 152419955 152419955 + Missense_Mutation SNP C C T TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 g.chr6:152419955C>T c.1642C>T c.(1642-1644)Cgc>Tgc p.R548C LIHC 6 152129176 152129176 + Nonsense_Mutation SNP C C A TCGA-CC-A7II-01A-11D-A33K-10 TCGA-CC-A7II-10A-01D-A33K-10 g.chr6:152129176C>A c.129C>A c.(127-129)taC>taA p.Y43* LIHC 6 152265434 152265434 + Missense_Mutation SNP T T C TCGA-CC-A3MB-01A-11D-A20W-10 TCGA-CC-A3MB-10A-01D-A20W-10 g.chr6:152265434T>C c.887T>C c.(886-888)cTc>cCc p.L296P LIHC 6 152332874 152332874 + Missense_Mutation SNP C C T TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr6:152332874C>T c.1180C>T c.(1180-1182)Cgc>Tgc p.R394C LIHC 6 152382169 152382169 + Missense_Mutation SNP A A G TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr6:152382169A>G c.1279A>G c.(1279-1281)Atg>Gtg p.M427V LIHC 6 152415519 152415519 + Splice_Site SNP G G A TCGA-G3-A7M7-01A-12D-A34Z-10 TCGA-G3-A7M7-10A-01D-A34Z-10 g.chr6:152415519G>A c.e7-1 LIHC 6 152415601 152415601 + Missense_Mutation SNP A A G TCGA-DD-AACI-01A-11D-A40R-10 TCGA-DD-AACI-10A-01D-A40U-10 g.chr6:152415601A>G c.1451A>G c.(1450-1452)gAc>gGc p.D484G LUAD 6 152129053 152129053 + Silent SNP C C A TCGA-99-8033-01A-11D-2238-08 TCGA-99-8033-10A-01D-2238-08 g.chr6:152129053C>A c.6C>A c.(4-6)acC>acA p.T2T LUAD 6 152129107 152129107 + Silent SNP G G C TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr6:152129107G>C c.60G>C c.(58-60)ggG>ggC p.G20G LUAD 6 152129170 152129170 + Missense_Mutation SNP G G T TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr6:152129170G>T c.123G>T c.(121-123)gaG>gaT p.E41D LUAD 6 152129212 152129212 + Silent SNP C C T TCGA-L9-A444-01A-21D-A24D-08 TCGA-L9-A444-10A-01D-A24F-08 g.chr6:152129212C>T c.165C>T c.(163-165)ccC>ccT p.P55P LUAD 6 152129472 152129472 + Missense_Mutation SNP G G C TCGA-55-8204-01A-11D-2238-08 TCGA-55-8204-10A-01D-2238-08 g.chr6:152129472G>C c.425G>C c.(424-426)cGc>cCc p.R142P LUAD 6 152201857 152201857 + Nonsense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr6:152201857C>A c.711C>A c.(709-711)tgC>tgA p.C237* LUAD 6 152265351 152265351 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr6:152265351G>T c.804G>T c.(802-804)aaG>aaT p.K268N LUAD 6 152265375 152265375 + Silent SNP C C A TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr6:152265375C>A c.828C>A c.(826-828)ggC>ggA p.G276G LUAD 6 152265379 152265379 + Missense_Mutation SNP G G T TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr6:152265379G>T c.832G>T c.(832-834)Ggt>Tgt p.G278C LUAD 6 152332851 152332851 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr6:152332851T>A c.1157T>A c.(1156-1158)aTc>aAc p.I386N LUAD 6 152332868 152332868 + Missense_Mutation SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr6:152332868G>A c.1174G>A c.(1174-1176)Gtc>Atc p.V392I LUAD 6 152332874 152332874 + Missense_Mutation SNP C C A TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr6:152332874C>A c.1180C>A c.(1180-1182)Cgc>Agc p.R394S LUAD 6 152332890 152332890 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr6:152332890C>G c.1196C>G c.(1195-1197)cCa>cGa p.P399R LUAD 6 152382259 152382259 + Splice_Site SNP G G T TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr6:152382259G>T c.1369G>T c.(1369-1371)Gga>Tga p.G457* LUAD 6 152419935 152419935 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr6:152419935T>A c.1622T>A c.(1621-1623)cTg>cAg p.L541Q LUAD 6 152419965 152419965 + Missense_Mutation SNP C C A TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr6:152419965C>A c.1652C>A c.(1651-1653)gCg>gAg p.A551E LUSC 6 152129166 152129166 + Missense_Mutation SNP G G T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chr6:152129166G>T c.119G>T c.(118-120)gGc>gTc p.G40V LUSC 6 152163791 152163792 + Missense_Mutation DNP AG AG TA TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 g.chr6:152163791_152163792AG>TA c.512_513AG>TA c.(511-513)aAG>aTA p.K171I LUSC 6 152163866 152163866 + Missense_Mutation SNP A A G TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 g.chr6:152163866A>G c.587A>G c.(586-588)cAt>cGt p.H196R LUSC 6 152265432 152265432 + Silent SNP G G T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 g.chr6:152265432G>T c.885G>T c.(883-885)ccG>ccT p.P295P LUSC 6 152265522 152265522 + Frame_Shift_Del DEL G G - TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr6:152265522delG c.975delG c.(973-975)ccgfs p.P325fs LUSC 6 152332811 152332811 + Missense_Mutation SNP C C A TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr6:152332811C>A c.1117C>A c.(1117-1119)Cat>Aat p.H373N LUSC 6 152415611 152415612 + Missense_Mutation DNP CC CC TT TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr6:152415611_152415612CC>TT c.1461_1462CC>TT c.(1459-1464)atCCac>atTTac p.H488Y LUSC 6 152415692 152415692 + Silent SNP C C A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 g.chr6:152415692C>A c.1542C>A c.(1540-1542)atC>atA p.I514I OV 6 152265553 152265553 + Missense_Mutation SNP C C A TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 g.chr6:152265553C>A c.1006C>A c.(1006-1008)Ccc>Acc p.P336T PAAD 6 152415580 152415580 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:152415580G>T c.1430G>T c.(1429-1431)cGa>cTa p.R477L PAAD 6 152420041 152420041 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 g.chr6:152420041G>A c.1728G>A c.(1726-1728)tcG>tcA p.S576S PRAD 6 152265313 152265313 + Nonsense_Mutation SNP C C T TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 g.chr6:152265313C>T c.766C>T c.(766-768)Cga>Tga p.R256* PRAD 6 152420001 152420001 + Missense_Mutation SNP C C T TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 g.chr6:152420001C>T c.1688C>T c.(1687-1689)aCg>aTg p.T563M PRAD 6 152420002 152420002 + Silent SNP G G A TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 g.chr6:152420002G>A c.1689G>A c.(1687-1689)acG>acA p.T563T READ 6 152163847 152163847 + Missense_Mutation SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr6:152163847G>A c.568G>A c.(568-570)Gac>Aac p.D190N SKCM 6 152201873 152201873 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr6:152201873C>T c.727C>T c.(727-729)Cgt>Tgt p.R243C SKCM 6 152201885 152201885 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr6:152201885G>A c.739G>A c.(739-741)Gaa>Aaa p.E247K SKCM 6 152332924 152332924 + Silent SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr6:152332924G>A c.1230G>A c.(1228-1230)ttG>ttA p.L410L SKCM 6 152382133 152382133 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr6:152382133G>A c.1243G>A c.(1243-1245)Gga>Aga p.G415R SKCM 6 152382190 152382190 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr6:152382190C>T c.1300C>T c.(1300-1302)Cgg>Tgg p.R434W SKCM 6 152415538 152415538 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr6:152415538C>T c.1388C>T c.(1387-1389)tCc>tTc p.S463F SKCM 6 152420037 152420037 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr6:152420037C>T c.1724C>T c.(1723-1725)tCa>tTa p.S575L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 6 152024705 152024705 single base substitution G A intron_variant BOCA-FR 6 152226539 152226539 single base substitution C A intron_variant BRCA-EU 6 151973754 151973754 single base substitution A C upstream_gene_variant BRCA-EU 6 151973948 151973948 single base substitution C A upstream_gene_variant BRCA-EU 6 151974992 151974992 single base substitution G A upstream_gene_variant BRCA-EU 6 151977595 151977595 single base substitution C T upstream_gene_variant BRCA-EU 6 151977616 151977616 single base substitution C T upstream_gene_variant BRCA-EU 6 151977751 151977751 single base substitution C G upstream_gene_variant BRCA-EU 6 151978946 151978946 insertion of <=200bp - T intron_variant BRCA-EU 6 151979320 151979320 single base substitution T A intron_variant BRCA-EU 6 151979376 151979376 single base substitution T G intron_variant BRCA-EU 6 151979443 151979443 single base substitution G A intron_variant BRCA-EU 6 151980764 151980764 single base substitution G A intron_variant BRCA-EU 6 151983555 151983555 deletion of <=200bp G - intron_variant BRCA-EU 6 151984069 151984069 single base substitution G C intron_variant BRCA-EU 6 151984759 151984759 single base substitution G A intron_variant BRCA-EU 6 151984873 151984873 single base substitution A G intron_variant BRCA-EU 6 151985345 151985345 single base substitution G A intron_variant BRCA-EU 6 151986067 151986067 single base substitution G A intron_variant BRCA-EU 6 151988066 151988066 single base substitution A G intron_variant BRCA-EU 6 151989306 151989306 single base substitution G T intron_variant BRCA-EU 6 151991000 151991000 single base substitution A G intron_variant BRCA-EU 6 151991954 151991954 single base substitution A C intron_variant BRCA-EU 6 151991990 151991990 single base substitution G A intron_variant BRCA-EU 6 151992081 151992081 insertion of <=200bp - T intron_variant BRCA-EU 6 151993085 151993085 single base substitution G A intron_variant BRCA-EU 6 151993570 151993570 single base substitution C A intron_variant BRCA-EU 6 151993720 151993720 single base substitution C T intron_variant BRCA-EU 6 151995001 151995001 single base substitution A T intron_variant BRCA-EU 6 151995719 151995719 single base substitution G C intron_variant BRCA-EU 6 151996218 151996218 single base substitution T C intron_variant BRCA-EU 6 151996714 151996714 single base substitution T G intron_variant BRCA-EU 6 151997893 151997893 single base substitution G A intron_variant BRCA-EU 6 151998321 151998321 single base substitution C T intron_variant BRCA-EU 6 151999145 151999145 single base substitution A G intron_variant BRCA-EU 6 151999196 151999196 single base substitution G A intron_variant BRCA-EU 6 151999301 151999301 single base substitution G A intron_variant BRCA-EU 6 151999729 151999729 single base substitution G C intron_variant BRCA-EU 6 152001051 152001051 single base substitution T G intron_variant BRCA-EU 6 152002777 152002777 single base substitution C A intron_variant BRCA-EU 6 152004145 152004145 single base substitution C G intron_variant BRCA-EU 6 152004218 152004218 single base substitution C G intron_variant BRCA-EU 6 152004273 152004273 single base substitution C T intron_variant BRCA-EU 6 152004745 152004745 single base substitution C G intron_variant BRCA-EU 6 152004805 152004805 single base substitution C G intron_variant BRCA-EU 6 152004839 152004839 single base substitution T C intron_variant BRCA-EU 6 152004907 152004907 single base substitution C T intron_variant BRCA-EU 6 152005674 152005674 single base substitution G C intron_variant BRCA-EU 6 152006558 152006558 single base substitution G A intron_variant BRCA-EU 6 152007516 152007516 single base substitution C G intron_variant BRCA-EU 6 152007516 152007516 single base substitution C G upstream_gene_variant BRCA-EU 6 152007780 152007780 single base substitution G A intron_variant BRCA-EU 6 152007780 152007780 single base substitution G A upstream_gene_variant BRCA-EU 6 152007976 152007976 single base substitution C A intron_variant BRCA-EU 6 152007976 152007976 single base substitution C A upstream_gene_variant BRCA-EU 6 152008263 152008263 single base substitution C G intron_variant BRCA-EU 6 152008263 152008263 single base substitution C G upstream_gene_variant BRCA-EU 6 152008870 152008870 single base substitution A G intron_variant BRCA-EU 6 152008870 152008870 single base substitution A G upstream_gene_variant BRCA-EU 6 152008974 152008974 single base substitution G A intron_variant BRCA-EU 6 152008974 152008974 single base substitution G A upstream_gene_variant BRCA-EU 6 152009797 152009797 single base substitution T A intron_variant BRCA-EU 6 152009797 152009797 single base substitution T A upstream_gene_variant BRCA-EU 6 152010586 152010586 single base substitution C G intron_variant BRCA-EU 6 152010586 152010586 single base substitution C G upstream_gene_variant BRCA-EU 6 152011947 152011947 single base substitution A T intron_variant BRCA-EU 6 152013525 152013525 single base substitution C T intron_variant BRCA-EU 6 152017882 152017882 single base substitution C T intron_variant BRCA-EU 6 152018474 152018474 single base substitution C G intron_variant BRCA-EU 6 152018753 152018753 single base substitution C T intron_variant BRCA-EU 6 152020039 152020039 single base substitution A G intron_variant BRCA-EU 6 152020073 152020073 single base substitution C G intron_variant BRCA-EU 6 152020494 152020494 single base substitution A T intron_variant BRCA-EU 6 152021041 152021041 single base substitution G A intron_variant BRCA-EU 6 152023346 152023346 single base substitution C G intron_variant BRCA-EU 6 152023508 152023508 deletion of <=200bp T - intron_variant BRCA-EU 6 152023913 152023913 single base substitution C T intron_variant BRCA-EU 6 152024202 152024202 single base substitution G C intron_variant BRCA-EU 6 152024472 152024472 single base substitution C G intron_variant BRCA-EU 6 152024608 152024608 single base substitution C G intron_variant BRCA-EU 6 152025334 152025334 single base substitution T A intron_variant BRCA-EU 6 152025607 152025607 single base substitution C G intron_variant BRCA-EU 6 152026734 152026734 single base substitution T G intron_variant BRCA-EU 6 152028130 152028130 single base substitution C A intron_variant BRCA-EU 6 152028191 152028191 single base substitution C A intron_variant BRCA-EU 6 152028282 152028282 single base substitution A G intron_variant BRCA-EU 6 152028288 152028288 single base substitution C G intron_variant BRCA-EU 6 152028452 152028452 single base substitution C A intron_variant BRCA-EU 6 152029336 152029336 single base substitution C G intron_variant BRCA-EU 6 152029405 152029405 single base substitution C A intron_variant BRCA-EU 6 152029458 152029458 single base substitution C A intron_variant BRCA-EU 6 152030501 152030501 single base substitution C G intron_variant BRCA-EU 6 152030811 152030811 single base substitution C T intron_variant BRCA-EU 6 152030830 152030830 single base substitution C G intron_variant BRCA-EU 6 152031199 152031199 single base substitution A G intron_variant BRCA-EU 6 152031208 152031208 single base substitution A C intron_variant BRCA-EU 6 152031809 152031809 single base substitution C G intron_variant BRCA-EU 6 152032544 152032544 single base substitution G C intron_variant BRCA-EU 6 152033321 152033321 single base substitution C G intron_variant BRCA-EU 6 152033629 152033629 single base substitution C G intron_variant BRCA-EU 6 152033699 152033699 single base substitution G C intron_variant BRCA-EU 6 152034162 152034162 single base substitution G A intron_variant BRCA-EU 6 152034939 152034939 deletion of <=200bp T - intron_variant BRCA-EU 6 152035183 152035183 single base substitution C A intron_variant BRCA-EU 6 152035239 152035239 single base substitution A G intron_variant BRCA-EU 6 152035751 152035751 single base substitution T A intron_variant BRCA-EU 6 152036742 152036742 single base substitution C G intron_variant BRCA-EU 6 152038464 152038464 single base substitution C G intron_variant BRCA-EU 6 152039531 152039531 deletion of <=200bp G - intron_variant BRCA-EU 6 152040149 152040149 single base substitution C T intron_variant BRCA-EU 6 152041233 152041233 deletion of <=200bp T - intron_variant BRCA-EU 6 152041542 152041542 single base substitution A G intron_variant BRCA-EU 6 152041754 152041754 single base substitution C T intron_variant BRCA-EU 6 152041976 152041976 single base substitution G C intron_variant BRCA-EU 6 152042606 152042606 single base substitution C T intron_variant BRCA-EU 6 152042720 152042720 single base substitution C G intron_variant BRCA-EU 6 152043028 152043028 single base substitution C T intron_variant BRCA-EU 6 152043124 152043124 single base substitution G C intron_variant BRCA-EU 6 152044049 152044049 single base substitution T C intron_variant BRCA-EU 6 152044533 152044533 single base substitution C T intron_variant BRCA-EU 6 152045259 152045259 single base substitution G A intron_variant BRCA-EU 6 152045845 152045845 single base substitution C A intron_variant BRCA-EU 6 152045889 152045889 single base substitution C T intron_variant BRCA-EU 6 152046353 152046371 deletion of <=200bp TTTAGTATATCACTAAATA - intron_variant BRCA-EU 6 152047035 152047035 single base substitution G A intron_variant BRCA-EU 6 152047901 152047901 single base substitution A T intron_variant BRCA-EU 6 152048155 152048155 single base substitution T A intron_variant BRCA-EU 6 152048185 152048185 insertion of <=200bp - A intron_variant BRCA-EU 6 152048268 152048268 single base substitution C G intron_variant BRCA-EU 6 152048626 152048626 single base substitution T A intron_variant BRCA-EU 6 152049059 152049059 single base substitution C A intron_variant BRCA-EU 6 152049413 152049413 single base substitution C G intron_variant BRCA-EU 6 152049698 152049698 single base substitution A T intron_variant BRCA-EU 6 152050205 152050205 single base substitution A G intron_variant BRCA-EU 6 152051189 152051189 single base substitution C T intron_variant BRCA-EU 6 152051190 152051190 single base substitution T A intron_variant BRCA-EU 6 152051685 152051685 single base substitution C T intron_variant BRCA-EU 6 152051703 152051703 single base substitution C G intron_variant BRCA-EU 6 152051927 152051927 single base substitution C G intron_variant BRCA-EU 6 152052069 152052069 single base substitution C G intron_variant BRCA-EU 6 152052095 152052095 single base substitution C T intron_variant BRCA-EU 6 152053604 152053604 single base substitution G A intron_variant BRCA-EU 6 152054915 152054915 single base substitution A G intron_variant BRCA-EU 6 152056669 152056669 single base substitution C T intron_variant BRCA-EU 6 152057989 152057989 single base substitution G A intron_variant BRCA-EU 6 152058045 152058045 single base substitution C T intron_variant BRCA-EU 6 152058258 152058258 single base substitution C G intron_variant BRCA-EU 6 152058269 152058269 deletion of <=200bp T - intron_variant BRCA-EU 6 152059073 152059073 single base substitution C T intron_variant BRCA-EU 6 152059940 152059940 single base substitution C G intron_variant BRCA-EU 6 152061768 152061768 deletion of <=200bp T - intron_variant BRCA-EU 6 152061972 152061972 single base substitution G C intron_variant BRCA-EU 6 152063056 152063056 single base substitution C A intron_variant BRCA-EU 6 152063098 152063099 deletion of <=200bp TG - intron_variant BRCA-EU 6 152063771 152063771 single base substitution A T intron_variant BRCA-EU 6 152063850 152063850 single base substitution C T intron_variant BRCA-EU 6 152064222 152064222 single base substitution A G intron_variant BRCA-EU 6 152064227 152064227 single base substitution G T intron_variant BRCA-EU 6 152064609 152064609 single base substitution G T intron_variant BRCA-EU 6 152065607 152065607 single base substitution A T intron_variant BRCA-EU 6 152066705 152066705 single base substitution A G intron_variant BRCA-EU 6 152067225 152067225 deletion of <=200bp T - intron_variant BRCA-EU 6 152067864 152067864 single base substitution C G intron_variant BRCA-EU 6 152068121 152068121 single base substitution A G intron_variant BRCA-EU 6 152069375 152069375 deletion of <=200bp C - intron_variant BRCA-EU 6 152069672 152069672 single base substitution C A intron_variant BRCA-EU 6 152071605 152071605 single base substitution C G intron_variant BRCA-EU 6 152075919 152075919 single base substitution T C intron_variant BRCA-EU 6 152076587 152076587 single base substitution T A intron_variant BRCA-EU 6 152076902 152076902 single base substitution A C intron_variant BRCA-EU 6 152077785 152077802 multiple base substitution (>=2bp and <=200bp) TATAGTTTTTGAATAAAT TTAAACTA intron_variant BRCA-EU 6 152081768 152081768 single base substitution C G intron_variant BRCA-EU 6 152083084 152083084 single base substitution C T intron_variant BRCA-EU 6 152083463 152083463 single base substitution T A intron_variant BRCA-EU 6 152084643 152084643 deletion of <=200bp T - intron_variant BRCA-EU 6 152085627 152085627 insertion of <=200bp - G intron_variant BRCA-EU 6 152087113 152087113 single base substitution G T intron_variant BRCA-EU 6 152087880 152087880 single base substitution A C intron_variant BRCA-EU 6 152088697 152088697 single base substitution T A intron_variant BRCA-EU 6 152090857 152090857 single base substitution G A intron_variant BRCA-EU 6 152092011 152092011 single base substitution C T intron_variant BRCA-EU 6 152094804 152094804 single base substitution T A intron_variant BRCA-EU 6 152094879 152094883 deletion of <=200bp GTAGA - intron_variant BRCA-EU 6 152096753 152096753 single base substitution C T intron_variant BRCA-EU 6 152097620 152097620 single base substitution A C intron_variant BRCA-EU 6 152099559 152099559 single base substitution G C intron_variant BRCA-EU 6 152099961 152099961 deletion of <=200bp T - intron_variant BRCA-EU 6 152100039 152100039 single base substitution C A intron_variant BRCA-EU 6 152100911 152100911 single base substitution A C intron_variant BRCA-EU 6 152101613 152101613 single base substitution A G intron_variant BRCA-EU 6 152106389 152106389 insertion of <=200bp - G intron_variant BRCA-EU 6 152107000 152107000 single base substitution G A intron_variant BRCA-EU 6 152108836 152108836 single base substitution C A intron_variant BRCA-EU 6 152110248 152110248 deletion of <=200bp A - intron_variant BRCA-EU 6 152110698 152110698 single base substitution C G intron_variant BRCA-EU 6 152110912 152110912 single base substitution C G intron_variant BRCA-EU 6 152113335 152113335 deletion of <=200bp A - intron_variant BRCA-EU 6 152114665 152114665 single base substitution T C intron_variant BRCA-EU 6 152115991 152115991 single base substitution C A intron_variant BRCA-EU 6 152116950 152116950 single base substitution A T intron_variant BRCA-EU 6 152117168 152117168 single base substitution G T intron_variant BRCA-EU 6 152117292 152117292 single base substitution C A intron_variant BRCA-EU 6 152117698 152117698 single base substitution G T intron_variant BRCA-EU 6 152118005 152118005 single base substitution C A intron_variant BRCA-EU 6 152122126 152122126 insertion of <=200bp - A intron_variant BRCA-EU 6 152122126 152122126 insertion of <=200bp - A upstream_gene_variant BRCA-EU 6 152122126 152122126 single base substitution A T intron_variant BRCA-EU 6 152122126 152122126 single base substitution A T upstream_gene_variant BRCA-EU 6 152123593 152123593 single base substitution C G intron_variant BRCA-EU 6 152123593 152123593 single base substitution C G upstream_gene_variant BRCA-EU 6 152123685 152123685 single base substitution T C intron_variant BRCA-EU 6 152123685 152123685 single base substitution T C upstream_gene_variant BRCA-EU 6 152124417 152124417 single base substitution C T intron_variant BRCA-EU 6 152124417 152124417 single base substitution C T upstream_gene_variant BRCA-EU 6 152124439 152124439 single base substitution G C intron_variant BRCA-EU 6 152124439 152124439 single base substitution G C upstream_gene_variant BRCA-EU 6 152124637 152124637 single base substitution C T intron_variant BRCA-EU 6 152124637 152124637 single base substitution C T upstream_gene_variant BRCA-EU 6 152125116 152125116 single base substitution G C intron_variant BRCA-EU 6 152125116 152125116 single base substitution G C upstream_gene_variant BRCA-EU 6 152125513 152125513 single base substitution C T intron_variant BRCA-EU 6 152125513 152125513 single base substitution C T upstream_gene_variant BRCA-EU 6 152126059 152126059 single base substitution C T 5_prime_UTR_variant BRCA-EU 6 152126059 152126059 single base substitution C T intron_variant BRCA-EU 6 152126059 152126059 single base substitution C T upstream_gene_variant BRCA-EU 6 152126060 152126060 single base substitution C A 5_prime_UTR_variant BRCA-EU 6 152126060 152126060 single base substitution C A intron_variant BRCA-EU 6 152126060 152126060 single base substitution C A upstream_gene_variant BRCA-EU 6 152126475 152126475 single base substitution G C 5_prime_UTR_variant BRCA-EU 6 152126475 152126475 single base substitution G C intron_variant BRCA-EU 6 152126475 152126475 single base substitution G C upstream_gene_variant BRCA-EU 6 152126885 152126885 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 6 152126885 152126885 single base substitution C G intron_variant BRCA-EU 6 152126885 152126885 single base substitution C G upstream_gene_variant BRCA-EU 6 152127920 152127920 single base substitution C G intron_variant BRCA-EU 6 152127920 152127920 single base substitution C G upstream_gene_variant BRCA-EU 6 152128427 152128427 single base substitution G T 5_prime_UTR_variant BRCA-EU 6 152128427 152128427 single base substitution G T intron_variant BRCA-EU 6 152128427 152128427 single base substitution G T upstream_gene_variant BRCA-EU 6 152128605 152128605 single base substitution C G 5_prime_UTR_variant BRCA-EU 6 152128605 152128605 single base substitution C G intron_variant BRCA-EU 6 152128605 152128605 single base substitution C G upstream_gene_variant BRCA-EU 6 152128620 152128620 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 6 152128620 152128620 single base substitution C G intron_variant BRCA-EU 6 152128620 152128620 single base substitution C G upstream_gene_variant BRCA-EU 6 152128635 152128635 single base substitution G C 5_prime_UTR_variant BRCA-EU 6 152128635 152128635 single base substitution G C intron_variant BRCA-EU 6 152128635 152128635 single base substitution G C upstream_gene_variant BRCA-EU 6 152129105 152129105 insertion of <=200bp - G downstream_gene_variant BRCA-EU 6 152129105 152129105 insertion of <=200bp - G frameshift_variant G20G? BRCA-EU 6 152129105 152129105 insertion of <=200bp - G upstream_gene_variant BRCA-EU 6 152129241 152129241 single base substitution C T downstream_gene_variant BRCA-EU 6 152129241 152129241 single base substitution C T exon_variant BRCA-EU 6 152129241 152129241 single base substitution C T missense_variant A65V 194C>T BRCA-EU 6 152129241 152129241 single base substitution C T upstream_gene_variant BRCA-EU 6 152129494 152129494 single base substitution C T downstream_gene_variant BRCA-EU 6 152129494 152129494 single base substitution C T exon_variant BRCA-EU 6 152129494 152129494 single base substitution C T synonymous_variant F149F 447C>T BRCA-EU 6 152129494 152129494 single base substitution C T upstream_gene_variant BRCA-EU 6 152129507 152129507 single base substitution C T downstream_gene_variant BRCA-EU 6 152129507 152129507 single base substitution C T intron_variant BRCA-EU 6 152129507 152129507 single base substitution C T splice_region_variant BRCA-EU 6 152129507 152129507 single base substitution C T upstream_gene_variant BRCA-EU 6 152129685 152129685 single base substitution C T downstream_gene_variant BRCA-EU 6 152129685 152129685 single base substitution C T intron_variant BRCA-EU 6 152129685 152129685 single base substitution C T upstream_gene_variant BRCA-EU 6 152129888 152129888 single base substitution C G downstream_gene_variant BRCA-EU 6 152129888 152129888 single base substitution C G intron_variant BRCA-EU 6 152129888 152129888 single base substitution C G upstream_gene_variant BRCA-EU 6 152130195 152130195 single base substitution T G downstream_gene_variant BRCA-EU 6 152130195 152130195 single base substitution T G intron_variant BRCA-EU 6 152130195 152130195 single base substitution T G upstream_gene_variant BRCA-EU 6 152130406 152130406 single base substitution G A downstream_gene_variant BRCA-EU 6 152130406 152130406 single base substitution G A intron_variant BRCA-EU 6 152130406 152130406 single base substitution G A splice_region_variant BRCA-EU 6 152130472 152130472 single base substitution C T downstream_gene_variant BRCA-EU 6 152130472 152130472 single base substitution C T intron_variant BRCA-EU 6 152131283 152131283 single base substitution C A downstream_gene_variant BRCA-EU 6 152131283 152131283 single base substitution C A intron_variant BRCA-EU 6 152131310 152131310 single base substitution C T downstream_gene_variant BRCA-EU 6 152131310 152131310 single base substitution C T intron_variant BRCA-EU 6 152132025 152132025 single base substitution T A downstream_gene_variant BRCA-EU 6 152132025 152132025 single base substitution T A intron_variant BRCA-EU 6 152134888 152134888 single base substitution C A downstream_gene_variant BRCA-EU 6 152134888 152134888 single base substitution C A intron_variant BRCA-EU 6 152136356 152136356 single base substitution C T downstream_gene_variant BRCA-EU 6 152136356 152136356 single base substitution C T intron_variant BRCA-EU 6 152136528 152136528 single base substitution C G downstream_gene_variant BRCA-EU 6 152136528 152136528 single base substitution C G intron_variant BRCA-EU 6 152137498 152137498 single base substitution G T intron_variant BRCA-EU 6 152137786 152137786 single base substitution T C intron_variant BRCA-EU 6 152138358 152138358 single base substitution C T intron_variant BRCA-EU 6 152139039 152139039 single base substitution T C intron_variant BRCA-EU 6 152139944 152139945 deletion of <=200bp AC - intron_variant BRCA-EU 6 152140630 152140630 single base substitution G T intron_variant BRCA-EU 6 152142874 152142874 single base substitution G C intron_variant BRCA-EU 6 152143039 152143039 single base substitution G A intron_variant BRCA-EU 6 152143144 152143144 single base substitution G A intron_variant BRCA-EU 6 152143149 152143149 single base substitution G A intron_variant BRCA-EU 6 152143229 152143229 single base substitution G A intron_variant BRCA-EU 6 152143231 152143231 deletion of <=200bp T - intron_variant BRCA-EU 6 152143517 152143517 deletion of <=200bp C - intron_variant BRCA-EU 6 152143802 152143802 single base substitution A T intron_variant BRCA-EU 6 152144168 152144168 single base substitution C T intron_variant BRCA-EU 6 152145259 152145259 single base substitution C T intron_variant BRCA-EU 6 152145575 152145575 single base substitution G C intron_variant BRCA-EU 6 152146176 152146177 deletion of <=200bp TA - intron_variant BRCA-EU 6 152146903 152146903 single base substitution C G intron_variant BRCA-EU 6 152147216 152147216 single base substitution G T intron_variant BRCA-EU 6 152147348 152147348 deletion of <=200bp A - intron_variant BRCA-EU 6 152147474 152147474 single base substitution C T intron_variant BRCA-EU 6 152148377 152148377 single base substitution C G intron_variant BRCA-EU 6 152148746 152148746 single base substitution C T intron_variant BRCA-EU 6 152149109 152149109 single base substitution C G intron_variant BRCA-EU 6 152150179 152150179 single base substitution C G intron_variant BRCA-EU 6 152150731 152150731 single base substitution C G intron_variant BRCA-EU 6 152151716 152151716 single base substitution C T intron_variant BRCA-EU 6 152154956 152154956 single base substitution G C intron_variant BRCA-EU 6 152157641 152157641 single base substitution C T intron_variant BRCA-EU 6 152158009 152158009 single base substitution T A intron_variant BRCA-EU 6 152158571 152158571 single base substitution G T intron_variant BRCA-EU 6 152159123 152159123 single base substitution A T intron_variant BRCA-EU 6 152159124 152159124 insertion of <=200bp - T intron_variant BRCA-EU 6 152160501 152160501 single base substitution C G intron_variant BRCA-EU 6 152160692 152160692 single base substitution A G intron_variant BRCA-EU 6 152161707 152161707 single base substitution A G intron_variant BRCA-EU 6 152161724 152161724 single base substitution A C intron_variant BRCA-EU 6 152162309 152162309 single base substitution C T intron_variant BRCA-EU 6 152162576 152162576 single base substitution C A intron_variant BRCA-EU 6 152162733 152162733 deletion of <=200bp T - intron_variant BRCA-EU 6 152163717 152163717 deletion of <=200bp T - intron_variant BRCA-EU 6 152163740 152163740 single base substitution C T 5_prime_UTR_variant BRCA-EU 6 152163740 152163740 single base substitution C T intron_variant BRCA-EU 6 152163740 152163740 single base substitution C T missense_variant S154L 461C>T BRCA-EU 6 152164474 152164474 single base substitution G C intron_variant BRCA-EU 6 152165061 152165061 single base substitution A T intron_variant BRCA-EU 6 152165543 152165543 single base substitution C G intron_variant BRCA-EU 6 152165942 152165942 deletion of <=200bp A - intron_variant BRCA-EU 6 152167104 152167104 single base substitution G A intron_variant BRCA-EU 6 152167727 152167727 single base substitution A G intron_variant BRCA-EU 6 152167754 152167754 single base substitution G T intron_variant BRCA-EU 6 152169627 152169627 single base substitution T A intron_variant BRCA-EU 6 152169666 152169666 single base substitution G A intron_variant BRCA-EU 6 152170035 152170035 single base substitution C G intron_variant BRCA-EU 6 152170273 152170276 deletion of <=200bp CTTA - intron_variant BRCA-EU 6 152170304 152170304 single base substitution T C intron_variant BRCA-EU 6 152170340 152170340 single base substitution T A intron_variant BRCA-EU 6 152171989 152171989 single base substitution T C intron_variant BRCA-EU 6 152173741 152173741 deletion of <=200bp T - intron_variant BRCA-EU 6 152174113 152174113 single base substitution C T intron_variant BRCA-EU 6 152175033 152175033 single base substitution T G intron_variant BRCA-EU 6 152175688 152175688 single base substitution C G intron_variant BRCA-EU 6 152175933 152175933 deletion of <=200bp T - intron_variant BRCA-EU 6 152176895 152176895 insertion of <=200bp - A intron_variant BRCA-EU 6 152177581 152177581 single base substitution G C intron_variant BRCA-EU 6 152178737 152178737 single base substitution C T intron_variant BRCA-EU 6 152179779 152179779 deletion of <=200bp T - intron_variant BRCA-EU 6 152180341 152180341 single base substitution T G intron_variant BRCA-EU 6 152180450 152180450 single base substitution C T intron_variant BRCA-EU 6 152180733 152180733 single base substitution C T intron_variant BRCA-EU 6 152180990 152180990 single base substitution C G intron_variant BRCA-EU 6 152181251 152181255 deletion of <=200bp TTCTC - intron_variant BRCA-EU 6 152182449 152182449 deletion of <=200bp A - intron_variant BRCA-EU 6 152184037 152184042 deletion of <=200bp GGTGTC - intron_variant BRCA-EU 6 152185337 152185337 single base substitution G T intron_variant BRCA-EU 6 152185777 152185777 single base substitution T G intron_variant BRCA-EU 6 152186633 152186633 single base substitution C T intron_variant BRCA-EU 6 152187556 152187556 single base substitution G A intron_variant BRCA-EU 6 152187885 152187885 single base substitution C G intron_variant BRCA-EU 6 152188076 152188076 single base substitution G C intron_variant BRCA-EU 6 152189036 152189036 single base substitution C T intron_variant BRCA-EU 6 152189530 152189530 single base substitution T C intron_variant BRCA-EU 6 152189640 152189640 single base substitution C T intron_variant BRCA-EU 6 152190130 152190130 single base substitution C A intron_variant BRCA-EU 6 152190139 152190139 single base substitution C T intron_variant BRCA-EU 6 152190342 152190342 single base substitution C T intron_variant BRCA-EU 6 152190557 152190595 deletion of <=200bp AGCACTTGCTTATTTGATGAGCCCTGAGAAGCATTACTG - intron_variant BRCA-EU 6 152191012 152191012 single base substitution T A intron_variant BRCA-EU 6 152192386 152192386 single base substitution A T intron_variant BRCA-EU 6 152192631 152192631 single base substitution T C intron_variant BRCA-EU 6 152192655 152192655 single base substitution C T intron_variant BRCA-EU 6 152192856 152192856 single base substitution A C intron_variant BRCA-EU 6 152192900 152192900 single base substitution C G intron_variant BRCA-EU 6 152193437 152193437 single base substitution C T intron_variant BRCA-EU 6 152195307 152195307 single base substitution G A intron_variant BRCA-EU 6 152195487 152195487 single base substitution G C intron_variant BRCA-EU 6 152196614 152196614 single base substitution A G intron_variant BRCA-EU 6 152197370 152197370 single base substitution G C intron_variant BRCA-EU 6 152197370 152197370 single base substitution G C upstream_gene_variant BRCA-EU 6 152197567 152197567 single base substitution A G intron_variant BRCA-EU 6 152197567 152197567 single base substitution A G upstream_gene_variant BRCA-EU 6 152198592 152198592 single base substitution A G intron_variant BRCA-EU 6 152198592 152198592 single base substitution A G upstream_gene_variant BRCA-EU 6 152198623 152198623 single base substitution C T intron_variant BRCA-EU 6 152198623 152198623 single base substitution C T upstream_gene_variant BRCA-EU 6 152199087 152199087 single base substitution G A intron_variant BRCA-EU 6 152199087 152199087 single base substitution G A upstream_gene_variant BRCA-EU 6 152199384 152199384 insertion of <=200bp - T intron_variant BRCA-EU 6 152199384 152199384 insertion of <=200bp - T upstream_gene_variant BRCA-EU 6 152199733 152199733 single base substitution T C intron_variant BRCA-EU 6 152199733 152199733 single base substitution T C upstream_gene_variant BRCA-EU 6 152200046 152200046 single base substitution A G intron_variant BRCA-EU 6 152200046 152200046 single base substitution A G upstream_gene_variant BRCA-EU 6 152200307 152200307 single base substitution G A intron_variant BRCA-EU 6 152200307 152200307 single base substitution G A upstream_gene_variant BRCA-EU 6 152200507 152200507 single base substitution A T intron_variant BRCA-EU 6 152200507 152200507 single base substitution A T upstream_gene_variant BRCA-EU 6 152200702 152200702 single base substitution A T intron_variant BRCA-EU 6 152200702 152200702 single base substitution A T upstream_gene_variant BRCA-EU 6 152200761 152200761 single base substitution G A intron_variant BRCA-EU 6 152200761 152200761 single base substitution G A upstream_gene_variant BRCA-EU 6 152202170 152202170 single base substitution G A intron_variant BRCA-EU 6 152202540 152202540 insertion of <=200bp - TG intron_variant BRCA-EU 6 152202905 152202905 single base substitution C A intron_variant BRCA-EU 6 152203833 152203833 single base substitution C G intron_variant BRCA-EU 6 152203918 152203918 single base substitution T A intron_variant BRCA-EU 6 152204578 152204578 single base substitution C G intron_variant BRCA-EU 6 152204864 152204864 single base substitution T A intron_variant BRCA-EU 6 152205691 152205691 single base substitution G T intron_variant BRCA-EU 6 152206439 152206439 single base substitution C T intron_variant BRCA-EU 6 152206455 152206455 single base substitution T C intron_variant BRCA-EU 6 152206689 152206689 single base substitution A G intron_variant BRCA-EU 6 152207901 152207901 single base substitution C G intron_variant BRCA-EU 6 152209383 152209383 single base substitution G C intron_variant BRCA-EU 6 152209719 152209721 deletion of <=200bp ATG - intron_variant BRCA-EU 6 152209908 152209908 single base substitution T C intron_variant BRCA-EU 6 152209986 152209986 single base substitution T A intron_variant BRCA-EU 6 152210039 152210039 insertion of <=200bp - AAT intron_variant BRCA-EU 6 152210420 152210420 single base substitution A C intron_variant BRCA-EU 6 152210699 152210699 single base substitution G T intron_variant BRCA-EU 6 152210811 152210811 single base substitution T A intron_variant BRCA-EU 6 152211100 152211100 single base substitution A C intron_variant BRCA-EU 6 152211225 152211225 single base substitution T C intron_variant BRCA-EU 6 152211244 152211244 single base substitution G C intron_variant BRCA-EU 6 152211244 152211244 single base substitution G T intron_variant BRCA-EU 6 152211286 152211286 single base substitution C A intron_variant BRCA-EU 6 152211633 152211633 single base substitution C G intron_variant BRCA-EU 6 152212353 152212353 single base substitution C G intron_variant BRCA-EU 6 152213517 152213517 single base substitution A T intron_variant BRCA-EU 6 152213987 152213987 single base substitution G C intron_variant BRCA-EU 6 152214326 152214326 deletion of <=200bp A - intron_variant BRCA-EU 6 152214988 152214988 single base substitution G A intron_variant BRCA-EU 6 152216284 152216284 deletion of <=200bp G - intron_variant BRCA-EU 6 152217136 152217136 single base substitution G C intron_variant BRCA-EU 6 152217159 152217159 single base substitution G A intron_variant BRCA-EU 6 152217359 152217359 single base substitution T G intron_variant BRCA-EU 6 152217611 152217611 single base substitution G T intron_variant BRCA-EU 6 152217820 152217820 single base substitution G T intron_variant BRCA-EU 6 152217840 152217840 single base substitution T C intron_variant BRCA-EU 6 152217868 152217868 single base substitution C T intron_variant BRCA-EU 6 152218248 152218248 single base substitution T G intron_variant BRCA-EU 6 152218366 152218369 deletion of <=200bp TTTG - intron_variant BRCA-EU 6 152218805 152218805 single base substitution C G intron_variant BRCA-EU 6 152219179 152219179 single base substitution G C intron_variant BRCA-EU 6 152219267 152219271 deletion of <=200bp TCTTA - intron_variant BRCA-EU 6 152219380 152219380 single base substitution T C intron_variant BRCA-EU 6 152220811 152220811 single base substitution C G intron_variant BRCA-EU 6 152221352 152221352 single base substitution T G intron_variant BRCA-EU 6 152221445 152221448 deletion of <=200bp ACTA - intron_variant BRCA-EU 6 152223473 152223473 single base substitution G A intron_variant BRCA-EU 6 152225197 152225197 single base substitution A G intron_variant BRCA-EU 6 152227001 152227001 single base substitution A G intron_variant BRCA-EU 6 152227426 152227426 single base substitution A G intron_variant BRCA-EU 6 152228492 152228492 single base substitution T A intron_variant BRCA-EU 6 152228526 152228526 single base substitution C T intron_variant BRCA-EU 6 152228642 152228642 deletion of <=200bp T - intron_variant BRCA-EU 6 152229093 152229093 single base substitution T C intron_variant BRCA-EU 6 152232581 152232581 single base substitution C G intron_variant BRCA-EU 6 152232719 152232719 single base substitution T A intron_variant BRCA-EU 6 152232725 152232725 single base substitution G C intron_variant BRCA-EU 6 152232847 152232847 single base substitution T C intron_variant BRCA-EU 6 152235745 152235745 single base substitution C T intron_variant BRCA-EU 6 152236589 152236589 single base substitution T C intron_variant BRCA-EU 6 152236872 152236872 single base substitution C A intron_variant BRCA-EU 6 152238269 152238269 single base substitution C T intron_variant BRCA-EU 6 152240373 152240373 single base substitution A G intron_variant BRCA-EU 6 152241921 152241921 single base substitution C T intron_variant BRCA-EU 6 152242137 152242137 single base substitution T C intron_variant BRCA-EU 6 152242520 152242520 single base substitution C T intron_variant BRCA-EU 6 152242542 152242542 single base substitution A G intron_variant BRCA-EU 6 152242689 152242689 single base substitution A T intron_variant BRCA-EU 6 152243562 152243569 deletion of <=200bp ATTAATTT - intron_variant BRCA-EU 6 152243727 152243727 single base substitution C T intron_variant BRCA-EU 6 152245456 152245456 single base substitution A G intron_variant BRCA-EU 6 152245953 152245953 single base substitution T C intron_variant BRCA-EU 6 152246314 152246314 single base substitution G C intron_variant BRCA-EU 6 152246799 152246801 deletion of <=200bp TTG - intron_variant BRCA-EU 6 152247250 152247250 single base substitution G C intron_variant BRCA-EU 6 152249118 152249118 single base substitution C G intron_variant BRCA-EU 6 152251889 152251889 insertion of <=200bp - T intron_variant BRCA-EU 6 152252591 152252591 deletion of <=200bp T - intron_variant BRCA-EU 6 152252739 152252739 single base substitution C A intron_variant BRCA-EU 6 152254888 152254888 single base substitution C A intron_variant BRCA-EU 6 152255457 152255458 deletion of <=200bp AT - intron_variant BRCA-EU 6 152255659 152255659 single base substitution C T intron_variant BRCA-EU 6 152256271 152256271 single base substitution T G intron_variant BRCA-EU 6 152256439 152256439 single base substitution C T intron_variant BRCA-EU 6 152256735 152256735 single base substitution G A intron_variant BRCA-EU 6 152256881 152256881 single base substitution C A intron_variant BRCA-EU 6 152258361 152258361 single base substitution C G intron_variant BRCA-EU 6 152258544 152258544 single base substitution G A intron_variant BRCA-EU 6 152258560 152258560 single base substitution C G intron_variant BRCA-EU 6 152258634 152258634 single base substitution A C intron_variant BRCA-EU 6 152258880 152258880 single base substitution A G intron_variant BRCA-EU 6 152259363 152259363 insertion of <=200bp - CATA intron_variant BRCA-EU 6 152259706 152259706 single base substitution T C intron_variant BRCA-EU 6 152260039 152260039 single base substitution C T intron_variant BRCA-EU 6 152260691 152260691 single base substitution T C intron_variant BRCA-EU 6 152260691 152260691 single base substitution T C upstream_gene_variant BRCA-EU 6 152260806 152260806 single base substitution A G intron_variant BRCA-EU 6 152260806 152260806 single base substitution A G upstream_gene_variant BRCA-EU 6 152263654 152263656 deletion of <=200bp AAT - intron_variant BRCA-EU 6 152263654 152263656 deletion of <=200bp AAT - upstream_gene_variant BRCA-EU 6 152264711 152264711 single base substitution C T intron_variant BRCA-EU 6 152264711 152264711 single base substitution C T upstream_gene_variant BRCA-EU 6 152265395 152265395 single base substitution C T exon_variant BRCA-EU 6 152265395 152265395 single base substitution C T intron_variant BRCA-EU 6 152265395 152265395 single base substitution C T missense_variant A110V 329C>T BRCA-EU 6 152265395 152265395 single base substitution C T missense_variant A283V 848C>T BRCA-EU 6 152266768 152266768 single base substitution G C intron_variant BRCA-EU 6 152267252 152267252 single base substitution G A intron_variant BRCA-EU 6 152268411 152268411 single base substitution A G intron_variant BRCA-EU 6 152268536 152268536 single base substitution G A intron_variant BRCA-EU 6 152269048 152269048 single base substitution C G intron_variant BRCA-EU 6 152272278 152272278 single base substitution C G intron_variant BRCA-EU 6 152272537 152272537 single base substitution G A intron_variant BRCA-EU 6 152273331 152273331 single base substitution A G intron_variant BRCA-EU 6 152274374 152274374 single base substitution G T intron_variant BRCA-EU 6 152276596 152276596 single base substitution T G intron_variant BRCA-EU 6 152277010 152277010 single base substitution C T intron_variant BRCA-EU 6 152277123 152277123 single base substitution T G intron_variant BRCA-EU 6 152277393 152277393 single base substitution G C intron_variant BRCA-EU 6 152278750 152278750 single base substitution G A intron_variant BRCA-EU 6 152279095 152279095 single base substitution G T intron_variant BRCA-EU 6 152279398 152279398 single base substitution G C intron_variant BRCA-EU 6 152280567 152280567 single base substitution A G intron_variant BRCA-EU 6 152280706 152280706 single base substitution A G intron_variant BRCA-EU 6 152283179 152283179 single base substitution A C intron_variant BRCA-EU 6 152283278 152283278 single base substitution C T intron_variant BRCA-EU 6 152284198 152284198 single base substitution C G intron_variant BRCA-EU 6 152284608 152284608 single base substitution C G intron_variant BRCA-EU 6 152285449 152285449 single base substitution T A intron_variant BRCA-EU 6 152285675 152285678 deletion of <=200bp TTTG - intron_variant BRCA-EU 6 152286367 152286367 insertion of <=200bp - TA intron_variant BRCA-EU 6 152286786 152286786 single base substitution T C intron_variant BRCA-EU 6 152287253 152287253 deletion of <=200bp A - intron_variant BRCA-EU 6 152287610 152287610 insertion of <=200bp - AA intron_variant BRCA-EU 6 152288387 152288387 single base substitution T C intron_variant BRCA-EU 6 152289167 152289167 insertion of <=200bp - T intron_variant BRCA-EU 6 152290393 152290393 single base substitution T G intron_variant BRCA-EU 6 152291877 152291878 deletion of <=200bp CT - intron_variant BRCA-EU 6 152291883 152291883 single base substitution C G intron_variant BRCA-EU 6 152292936 152292936 single base substitution G A intron_variant BRCA-EU 6 152293493 152293493 single base substitution A T intron_variant BRCA-EU 6 152294577 152294577 single base substitution G A intron_variant BRCA-EU 6 152294845 152294845 single base substitution C T intron_variant BRCA-EU 6 152294982 152294982 single base substitution A C intron_variant BRCA-EU 6 152295142 152295142 single base substitution A G intron_variant BRCA-EU 6 152295158 152295158 single base substitution A G intron_variant BRCA-EU 6 152296338 152296338 single base substitution T C intron_variant BRCA-EU 6 152296917 152296917 single base substitution C T intron_variant BRCA-EU 6 152298104 152298104 single base substitution A C intron_variant BRCA-EU 6 152298235 152298235 single base substitution A T intron_variant BRCA-EU 6 152300497 152300497 single base substitution G C intron_variant BRCA-EU 6 152301582 152301582 single base substitution G T intron_variant BRCA-EU 6 152301879 152301879 single base substitution C T intron_variant BRCA-EU 6 152301918 152301918 single base substitution A G intron_variant BRCA-EU 6 152302406 152302406 single base substitution G T intron_variant BRCA-EU 6 152302683 152302683 single base substitution C G intron_variant BRCA-EU 6 152302766 152302766 single base substitution G A intron_variant BRCA-EU 6 152303248 152303248 single base substitution G A intron_variant BRCA-EU 6 152304226 152304226 single base substitution C T intron_variant BRCA-EU 6 152304327 152304327 single base substitution C T intron_variant BRCA-EU 6 152304747 152304747 single base substitution A T intron_variant BRCA-EU 6 152305243 152305243 single base substitution C A exon_variant BRCA-EU 6 152305243 152305243 single base substitution C A intron_variant BRCA-EU 6 152305711 152305711 single base substitution C G downstream_gene_variant BRCA-EU 6 152305711 152305711 single base substitution C G intron_variant BRCA-EU 6 152307960 152307960 single base substitution A T downstream_gene_variant BRCA-EU 6 152307960 152307960 single base substitution A T intron_variant BRCA-EU 6 152308039 152308040 deletion of <=200bp TG - downstream_gene_variant BRCA-EU 6 152308039 152308040 deletion of <=200bp TG - intron_variant BRCA-EU 6 152313425 152313426 deletion of <=200bp CT - intron_variant BRCA-EU 6 152314825 152314825 single base substitution A C intron_variant BRCA-EU 6 152315170 152315170 single base substitution C T intron_variant BRCA-EU 6 152315827 152315827 single base substitution C T intron_variant BRCA-EU 6 152316308 152316308 single base substitution G T intron_variant BRCA-EU 6 152316624 152316624 single base substitution A G intron_variant BRCA-EU 6 152316756 152316756 deletion of <=200bp T - intron_variant BRCA-EU 6 152319214 152319214 single base substitution C T intron_variant BRCA-EU 6 152319684 152319684 single base substitution G C intron_variant BRCA-EU 6 152320334 152320334 single base substitution G A intron_variant BRCA-EU 6 152320365 152320365 single base substitution G A intron_variant BRCA-EU 6 152320508 152320508 single base substitution A C intron_variant BRCA-EU 6 152320759 152320759 single base substitution C T intron_variant BRCA-EU 6 152321104 152321104 single base substitution A T intron_variant BRCA-EU 6 152321405 152321405 single base substitution C T intron_variant BRCA-EU 6 152321418 152321418 single base substitution G C intron_variant BRCA-EU 6 152321715 152321715 single base substitution C T intron_variant BRCA-EU 6 152322416 152322416 single base substitution T G intron_variant BRCA-EU 6 152323074 152323074 single base substitution G C intron_variant BRCA-EU 6 152323805 152323805 single base substitution C G intron_variant BRCA-EU 6 152323893 152323893 deletion of <=200bp A - intron_variant BRCA-EU 6 152323922 152323922 single base substitution C A intron_variant BRCA-EU 6 152323945 152323945 single base substitution T G intron_variant BRCA-EU 6 152323964 152323964 single base substitution C T intron_variant BRCA-EU 6 152323981 152323981 single base substitution G A intron_variant BRCA-EU 6 152324531 152324531 single base substitution G A intron_variant BRCA-EU 6 152325199 152325199 single base substitution C A intron_variant BRCA-EU 6 152327956 152327956 single base substitution G A intron_variant BRCA-EU 6 152328826 152328826 single base substitution C G intron_variant BRCA-EU 6 152329182 152329182 single base substitution C A intron_variant BRCA-EU 6 152330115 152330115 single base substitution G T intron_variant BRCA-EU 6 152330209 152330209 single base substitution T A intron_variant BRCA-EU 6 152330275 152330275 single base substitution C A intron_variant BRCA-EU 6 152330419 152330419 single base substitution G A intron_variant BRCA-EU 6 152330589 152330589 deletion of <=200bp A - intron_variant BRCA-EU 6 152331210 152331210 single base substitution G A intron_variant BRCA-EU 6 152332017 152332017 single base substitution C T intron_variant BRCA-EU 6 152332027 152332027 single base substitution T C intron_variant BRCA-EU 6 152332030 152332030 single base substitution T C intron_variant BRCA-EU 6 152332752 152332752 single base substitution T C intron_variant BRCA-EU 6 152333394 152333394 single base substitution A G intron_variant BRCA-EU 6 152333479 152333479 single base substitution C T intron_variant BRCA-EU 6 152333550 152333550 single base substitution G A intron_variant BRCA-EU 6 152333821 152333821 single base substitution A C intron_variant BRCA-EU 6 152335006 152335006 single base substitution C G intron_variant BRCA-EU 6 152335010 152335010 single base substitution C A intron_variant BRCA-EU 6 152335351 152335357 deletion of <=200bp TAGGTCT - intron_variant BRCA-EU 6 152336194 152336194 insertion of <=200bp - A intron_variant BRCA-EU 6 152336507 152336507 single base substitution T G intron_variant BRCA-EU 6 152338003 152338003 single base substitution T C intron_variant BRCA-EU 6 152339457 152339457 insertion of <=200bp - T intron_variant BRCA-EU 6 152339661 152339661 single base substitution C T intron_variant BRCA-EU 6 152339935 152339935 insertion of <=200bp - T intron_variant BRCA-EU 6 152340861 152340861 single base substitution G A intron_variant BRCA-EU 6 152341569 152341569 single base substitution C G intron_variant BRCA-EU 6 152341645 152341645 single base substitution G A intron_variant BRCA-EU 6 152341744 152341744 single base substitution C T intron_variant BRCA-EU 6 152341905 152341905 single base substitution G C intron_variant BRCA-EU 6 152342299 152342299 single base substitution C G intron_variant BRCA-EU 6 152342878 152342878 single base substitution G T intron_variant BRCA-EU 6 152342912 152342912 single base substitution G T intron_variant BRCA-EU 6 152343770 152343770 single base substitution G C intron_variant BRCA-EU 6 152343926 152343926 single base substitution G C intron_variant BRCA-EU 6 152344032 152344032 single base substitution A G intron_variant BRCA-EU 6 152345271 152345271 single base substitution C A intron_variant BRCA-EU 6 152346811 152346811 single base substitution G T intron_variant BRCA-EU 6 152346948 152346951 deletion of <=200bp TACT - intron_variant BRCA-EU 6 152347856 152347856 single base substitution T G intron_variant BRCA-EU 6 152348567 152348567 single base substitution T A intron_variant BRCA-EU 6 152349006 152349006 single base substitution C T intron_variant BRCA-EU 6 152349279 152349279 insertion of <=200bp - A intron_variant BRCA-EU 6 152349939 152349939 single base substitution C G intron_variant BRCA-EU 6 152350002 152350002 single base substitution C T intron_variant BRCA-EU 6 152350010 152350010 single base substitution C A intron_variant BRCA-EU 6 152350363 152350363 single base substitution G C intron_variant BRCA-EU 6 152350688 152350688 deletion of <=200bp C - intron_variant BRCA-EU 6 152351492 152351492 single base substitution G T intron_variant BRCA-EU 6 152352622 152352622 single base substitution A G intron_variant BRCA-EU 6 152353487 152353487 single base substitution T C intron_variant BRCA-EU 6 152353544 152353544 single base substitution A C intron_variant BRCA-EU 6 152355351 152355351 single base substitution C G intron_variant BRCA-EU 6 152356186 152356186 single base substitution C T intron_variant BRCA-EU 6 152359292 152359292 single base substitution T C intron_variant BRCA-EU 6 152359783 152359783 single base substitution A T intron_variant BRCA-EU 6 152360637 152360637 single base substitution T C intron_variant BRCA-EU 6 152360733 152360733 single base substitution C T intron_variant BRCA-EU 6 152360985 152360985 single base substitution A C intron_variant BRCA-EU 6 152362386 152362386 single base substitution C T intron_variant BRCA-EU 6 152362981 152362981 single base substitution G C intron_variant BRCA-EU 6 152363271 152363271 single base substitution T C intron_variant BRCA-EU 6 152363537 152363537 single base substitution G T intron_variant BRCA-EU 6 152364461 152364461 single base substitution A C intron_variant BRCA-EU 6 152364531 152364531 single base substitution G A intron_variant BRCA-EU 6 152364576 152364576 single base substitution A G intron_variant BRCA-EU 6 152364638 152364638 single base substitution C A intron_variant BRCA-EU 6 152364968 152364968 single base substitution A G intron_variant BRCA-EU 6 152365197 152365197 single base substitution C T intron_variant BRCA-EU 6 152366505 152366505 single base substitution T C intron_variant BRCA-EU 6 152367080 152367080 deletion of <=200bp A - intron_variant BRCA-EU 6 152367544 152367544 single base substitution C G intron_variant BRCA-EU 6 152367614 152367614 single base substitution A C intron_variant BRCA-EU 6 152367777 152367777 deletion of <=200bp A - intron_variant BRCA-EU 6 152368046 152368046 single base substitution G A intron_variant BRCA-EU 6 152368162 152368162 single base substitution C A intron_variant BRCA-EU 6 152368559 152368559 single base substitution T G intron_variant BRCA-EU 6 152369072 152369072 single base substitution C A intron_variant BRCA-EU 6 152369257 152369257 single base substitution G A intron_variant BRCA-EU 6 152370854 152370854 single base substitution G A intron_variant BRCA-EU 6 152371274 152371274 single base substitution A G intron_variant BRCA-EU 6 152371824 152371824 single base substitution G A intron_variant BRCA-EU 6 152372027 152372027 single base substitution C G intron_variant BRCA-EU 6 152373158 152373158 single base substitution G T intron_variant BRCA-EU 6 152373937 152373937 single base substitution G T intron_variant BRCA-EU 6 152374819 152374819 single base substitution G T intron_variant BRCA-EU 6 152375254 152375254 single base substitution T C intron_variant BRCA-EU 6 152375620 152375620 single base substitution C G intron_variant BRCA-EU 6 152375635 152375635 single base substitution C G intron_variant BRCA-EU 6 152376053 152376053 insertion of <=200bp - ATGGA intron_variant BRCA-EU 6 152376203 152376203 deletion of <=200bp T - intron_variant BRCA-EU 6 152376477 152376477 single base substitution C A intron_variant BRCA-EU 6 152376640 152376640 single base substitution A G intron_variant BRCA-EU 6 152376876 152376876 single base substitution T G intron_variant BRCA-EU 6 152377251 152377251 single base substitution C T intron_variant BRCA-EU 6 152377255 152377255 single base substitution C T intron_variant BRCA-EU 6 152377284 152377284 single base substitution C T intron_variant BRCA-EU 6 152378164 152378164 single base substitution C G intron_variant BRCA-EU 6 152379010 152379010 single base substitution G C intron_variant BRCA-EU 6 152381721 152381721 single base substitution C T intron_variant BRCA-EU 6 152381781 152381781 single base substitution C T intron_variant BRCA-EU 6 152382078 152382078 insertion of <=200bp - T intron_variant BRCA-EU 6 152383326 152383326 single base substitution T G downstream_gene_variant BRCA-EU 6 152383326 152383326 single base substitution T G intron_variant BRCA-EU 6 152384435 152384435 single base substitution T A downstream_gene_variant BRCA-EU 6 152384435 152384435 single base substitution T A intron_variant BRCA-EU 6 152384811 152384811 single base substitution C G downstream_gene_variant BRCA-EU 6 152384811 152384811 single base substitution C G intron_variant BRCA-EU 6 152384894 152384894 single base substitution G C downstream_gene_variant BRCA-EU 6 152384894 152384894 single base substitution G C intron_variant BRCA-EU 6 152385006 152385006 single base substitution G C downstream_gene_variant BRCA-EU 6 152385006 152385006 single base substitution G C intron_variant BRCA-EU 6 152385907 152385907 single base substitution C T downstream_gene_variant BRCA-EU 6 152385907 152385907 single base substitution C T intron_variant BRCA-EU 6 152386441 152386441 single base substitution C A downstream_gene_variant BRCA-EU 6 152386441 152386441 single base substitution C A intron_variant BRCA-EU 6 152387418 152387418 single base substitution C T intron_variant BRCA-EU 6 152387759 152387766 deletion of <=200bp TGGTTCAT - intron_variant BRCA-EU 6 152388791 152388791 single base substitution T G intron_variant BRCA-EU 6 152388933 152388933 single base substitution G T intron_variant BRCA-EU 6 152390810 152390810 single base substitution G C intron_variant BRCA-EU 6 152391269 152391269 single base substitution A T intron_variant BRCA-EU 6 152392314 152392314 single base substitution C T intron_variant BRCA-EU 6 152393488 152393488 insertion of <=200bp - T intron_variant BRCA-EU 6 152394945 152394945 single base substitution C G intron_variant BRCA-EU 6 152396142 152396142 single base substitution C A intron_variant BRCA-EU 6 152396337 152396337 insertion of <=200bp - T intron_variant BRCA-EU 6 152396961 152396961 single base substitution T C intron_variant BRCA-EU 6 152397745 152397745 single base substitution G C intron_variant BRCA-EU 6 152398099 152398099 single base substitution T C intron_variant BRCA-EU 6 152398380 152398380 single base substitution G A intron_variant BRCA-EU 6 152399066 152399066 single base substitution T C intron_variant BRCA-EU 6 152399439 152399439 single base substitution T G intron_variant BRCA-EU 6 152399602 152399602 deletion of <=200bp T - intron_variant BRCA-EU 6 152400206 152400206 single base substitution G A intron_variant BRCA-EU 6 152400431 152400450 deletion of <=200bp GCAGCAATATTTGTTGTTCT - intron_variant BRCA-EU 6 152400569 152400569 single base substitution A T intron_variant BRCA-EU 6 152401860 152401860 single base substitution C G intron_variant BRCA-EU 6 152402414 152402414 single base substitution C G intron_variant BRCA-EU 6 152402930 152402943 deletion of <=200bp CACCACCGATCCCA - intron_variant BRCA-EU 6 152403799 152403799 single base substitution A G intron_variant BRCA-EU 6 152404097 152404097 single base substitution G C intron_variant BRCA-EU 6 152406093 152406093 single base substitution G T intron_variant BRCA-EU 6 152406263 152406263 single base substitution G A intron_variant BRCA-EU 6 152406331 152406331 single base substitution G C intron_variant BRCA-EU 6 152407023 152407023 single base substitution G C intron_variant BRCA-EU 6 152407032 152407032 single base substitution G A intron_variant BRCA-EU 6 152407219 152407219 single base substitution T G intron_variant BRCA-EU 6 152407249 152407249 single base substitution G A intron_variant BRCA-EU 6 152407314 152407314 single base substitution C T intron_variant BRCA-EU 6 152407397 152407397 single base substitution A G intron_variant BRCA-EU 6 152407560 152407560 single base substitution T A intron_variant BRCA-EU 6 152407564 152407567 deletion of <=200bp TAAT - intron_variant BRCA-EU 6 152409472 152409472 single base substitution G A intron_variant BRCA-EU 6 152409520 152409520 deletion of <=200bp A - intron_variant BRCA-EU 6 152410224 152410224 single base substitution G C intron_variant BRCA-EU 6 152410237 152410237 single base substitution A C intron_variant BRCA-EU 6 152412010 152412010 single base substitution T C intron_variant BRCA-EU 6 152412364 152412364 single base substitution A T intron_variant BRCA-EU 6 152412586 152412586 single base substitution C G intron_variant BRCA-EU 6 152412725 152412725 single base substitution A C intron_variant BRCA-EU 6 152413518 152413518 single base substitution C T intron_variant BRCA-EU 6 152413677 152413677 single base substitution T G intron_variant BRCA-EU 6 152414209 152414209 single base substitution C G intron_variant BRCA-EU 6 152414237 152414237 single base substitution C A intron_variant BRCA-EU 6 152414762 152414762 single base substitution C G intron_variant BRCA-EU 6 152415230 152415230 single base substitution G C intron_variant BRCA-EU 6 152416595 152416595 single base substitution T A intron_variant BRCA-EU 6 152417000 152417000 single base substitution C A intron_variant BRCA-EU 6 152417408 152417412 deletion of <=200bp CTTCT - intron_variant BRCA-EU 6 152417662 152417662 single base substitution A G intron_variant BRCA-EU 6 152419923 152419923 single base substitution A G intron_variant BRCA-EU 6 152419923 152419923 single base substitution A G missense_variant Y276C 827A>G BRCA-EU 6 152419923 152419923 single base substitution A G missense_variant Y425C 1274A>G BRCA-EU 6 152419923 152419923 single base substitution A G missense_variant Y537C 1610A>G BRCA-EU 6 152419926 152419926 single base substitution A G intron_variant BRCA-EU 6 152419926 152419926 single base substitution A G missense_variant D277G 830A>G BRCA-EU 6 152419926 152419926 single base substitution A G missense_variant D426G 1277A>G BRCA-EU 6 152419926 152419926 single base substitution A G missense_variant D538G 1613A>G BRCA-EU 6 152420455 152420455 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 152420455 152420455 single base substitution G A downstream_gene_variant BRCA-EU 6 152420455 152420455 single base substitution G A intron_variant BRCA-EU 6 152420565 152420565 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 152420565 152420565 single base substitution C T downstream_gene_variant BRCA-EU 6 152420565 152420565 single base substitution C T intron_variant BRCA-EU 6 152422113 152422113 single base substitution C G 3_prime_UTR_variant BRCA-EU 6 152422113 152422113 single base substitution C G downstream_gene_variant BRCA-EU 6 152422113 152422113 single base substitution C G intron_variant BRCA-EU 6 152422515 152422515 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 6 152422515 152422515 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 152422515 152422515 deletion of <=200bp A - intron_variant BRCA-EU 6 152422818 152422818 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 152422818 152422818 single base substitution C T downstream_gene_variant BRCA-EU 6 152422818 152422818 single base substitution C T intron_variant BRCA-EU 6 152423103 152423103 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 152423103 152423103 single base substitution G A downstream_gene_variant BRCA-EU 6 152423103 152423103 single base substitution G A intron_variant BRCA-EU 6 152423953 152423953 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 152423953 152423953 single base substitution G A downstream_gene_variant BRCA-EU 6 152423953 152423953 single base substitution G A intron_variant BRCA-EU 6 152425037 152425037 single base substitution G T downstream_gene_variant BRCA-EU 6 152425037 152425037 single base substitution G T intron_variant BRCA-EU 6 152425296 152425296 single base substitution G C downstream_gene_variant BRCA-EU 6 152425296 152425296 single base substitution G C intron_variant BRCA-EU 6 152426483 152426483 single base substitution C G downstream_gene_variant BRCA-EU 6 152426483 152426483 single base substitution C G intron_variant BRCA-EU 6 152427528 152427528 single base substitution C A downstream_gene_variant BRCA-EU 6 152427528 152427528 single base substitution C A intron_variant BRCA-EU 6 152427961 152427961 single base substitution G C downstream_gene_variant BRCA-EU 6 152427961 152427961 single base substitution G C intron_variant BRCA-EU 6 152429513 152429513 single base substitution T C intron_variant BRCA-EU 6 152430195 152430195 single base substitution G A intron_variant BRCA-EU 6 152430640 152430640 single base substitution A T intron_variant BRCA-EU 6 152431965 152431965 single base substitution A T intron_variant BRCA-EU 6 152432053 152432053 single base substitution C T intron_variant BRCA-EU 6 152432584 152432584 single base substitution C T intron_variant BRCA-EU 6 152432637 152432637 single base substitution G A intron_variant BRCA-EU 6 152432717 152432717 single base substitution G A intron_variant BRCA-EU 6 152434051 152434051 single base substitution C T intron_variant BRCA-EU 6 152434526 152434526 single base substitution G C intron_variant BRCA-EU 6 152436555 152436555 single base substitution G T intron_variant BRCA-EU 6 152438038 152438038 single base substitution T C intron_variant BRCA-EU 6 152438203 152438203 single base substitution C G intron_variant BRCA-EU 6 152438486 152438486 single base substitution G A intron_variant BRCA-EU 6 152438564 152438569 deletion of <=200bp ATCTGT - intron_variant BRCA-EU 6 152438828 152438828 single base substitution C A intron_variant BRCA-EU 6 152441389 152441389 single base substitution T G intron_variant BRCA-EU 6 152441652 152441652 single base substitution G A intron_variant BRCA-EU 6 152442954 152442954 single base substitution A G intron_variant BRCA-EU 6 152442991 152442991 deletion of <=200bp A - intron_variant BRCA-EU 6 152444786 152444786 single base substitution G A intron_variant BRCA-EU 6 152444879 152444879 single base substitution A T intron_variant BRCA-EU 6 152445712 152445712 single base substitution G A intron_variant BRCA-EU 6 152446699 152446699 single base substitution C G 3_prime_UTR_variant BRCA-EU 6 152446935 152446935 single base substitution C A 3_prime_UTR_variant BRCA-EU 6 152447173 152447173 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 152447322 152447322 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 152448441 152448441 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 152449670 152449670 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 152449671 152449671 single base substitution A T 3_prime_UTR_variant BRCA-EU 6 152451416 152451416 single base substitution A C downstream_gene_variant BRCA-EU 6 152452778 152452778 single base substitution C T downstream_gene_variant BRCA-EU 6 152454082 152454082 single base substitution A G downstream_gene_variant BRCA-EU 6 152454520 152454520 single base substitution G C downstream_gene_variant BRCA-EU 6 152455041 152455041 single base substitution G T downstream_gene_variant BRCA-FR 6 151977254 151977254 single base substitution A C upstream_gene_variant BRCA-FR 6 151993503 151993503 single base substitution G T intron_variant BRCA-FR 6 151999729 151999729 single base substitution G C intron_variant BRCA-FR 6 152008263 152008263 single base substitution C G intron_variant BRCA-FR 6 152008263 152008263 single base substitution C G upstream_gene_variant BRCA-FR 6 152027363 152027363 single base substitution C T intron_variant BRCA-FR 6 152028288 152028288 single base substitution C G intron_variant BRCA-FR 6 152035183 152035183 single base substitution C A intron_variant BRCA-FR 6 152041976 152041976 single base substitution G C intron_variant BRCA-FR 6 152042606 152042606 single base substitution C T intron_variant BRCA-FR 6 152044533 152044533 single base substitution C T intron_variant BRCA-FR 6 152049059 152049059 single base substitution C A intron_variant BRCA-FR 6 152054246 152054246 single base substitution C T intron_variant BRCA-FR 6 152057989 152057989 single base substitution G A intron_variant BRCA-FR 6 152058045 152058045 single base substitution C T intron_variant BRCA-FR 6 152059073 152059073 single base substitution C T intron_variant BRCA-FR 6 152067864 152067864 single base substitution C G intron_variant BRCA-FR 6 152068788 152068788 single base substitution G A intron_variant BRCA-FR 6 152076902 152076902 single base substitution A C intron_variant BRCA-FR 6 152083389 152083389 single base substitution G C intron_variant BRCA-FR 6 152095863 152095863 single base substitution C T intron_variant BRCA-FR 6 152117168 152117168 single base substitution G T intron_variant BRCA-FR 6 152125513 152125513 single base substitution C T intron_variant BRCA-FR 6 152125513 152125513 single base substitution C T upstream_gene_variant BRCA-FR 6 152129241 152129241 single base substitution C T downstream_gene_variant BRCA-FR 6 152129241 152129241 single base substitution C T exon_variant BRCA-FR 6 152129241 152129241 single base substitution C T missense_variant A65V 194C>T BRCA-FR 6 152129241 152129241 single base substitution C T upstream_gene_variant BRCA-FR 6 152130472 152130472 single base substitution C T downstream_gene_variant BRCA-FR 6 152130472 152130472 single base substitution C T intron_variant BRCA-FR 6 152136356 152136356 single base substitution C T downstream_gene_variant BRCA-FR 6 152136356 152136356 single base substitution C T intron_variant BRCA-FR 6 152136528 152136528 single base substitution C G downstream_gene_variant BRCA-FR 6 152136528 152136528 single base substitution C G intron_variant BRCA-FR 6 152140918 152140918 single base substitution C T intron_variant BRCA-FR 6 152142025 152142025 single base substitution C T intron_variant BRCA-FR 6 152145575 152145575 single base substitution G C intron_variant BRCA-FR 6 152145837 152145837 single base substitution C G intron_variant BRCA-FR 6 152149109 152149109 single base substitution C G intron_variant BRCA-FR 6 152150179 152150179 single base substitution C G intron_variant BRCA-FR 6 152157671 152157671 single base substitution T A intron_variant BRCA-FR 6 152158009 152158009 single base substitution T A intron_variant BRCA-FR 6 152159123 152159123 single base substitution A T intron_variant BRCA-FR 6 152160501 152160501 single base substitution C G intron_variant BRCA-FR 6 152163451 152163451 single base substitution A G intron_variant BRCA-FR 6 152170492 152170492 single base substitution G A intron_variant BRCA-FR 6 152180341 152180341 single base substitution T G intron_variant BRCA-FR 6 152186633 152186633 single base substitution C T intron_variant BRCA-FR 6 152187885 152187885 single base substitution C G intron_variant BRCA-FR 6 152188076 152188076 single base substitution G C intron_variant BRCA-FR 6 152191012 152191012 single base substitution T A intron_variant BRCA-FR 6 152217868 152217868 single base substitution C T intron_variant BRCA-FR 6 152228492 152228492 single base substitution T A intron_variant BRCA-FR 6 152237077 152237077 single base substitution A G intron_variant BRCA-FR 6 152248099 152248099 single base substitution G C intron_variant BRCA-FR 6 152255659 152255659 single base substitution C T intron_variant BRCA-FR 6 152260691 152260691 single base substitution T C intron_variant BRCA-FR 6 152260691 152260691 single base substitution T C upstream_gene_variant BRCA-FR 6 152269048 152269048 single base substitution C G intron_variant BRCA-FR 6 152272278 152272278 single base substitution C G intron_variant BRCA-FR 6 152272537 152272537 single base substitution G A intron_variant BRCA-FR 6 152276254 152276254 single base substitution T G intron_variant BRCA-FR 6 152277010 152277010 single base substitution C T intron_variant BRCA-FR 6 152291883 152291883 single base substitution C G intron_variant BRCA-FR 6 152295142 152295142 single base substitution A G intron_variant BRCA-FR 6 152295158 152295158 single base substitution A G intron_variant BRCA-FR 6 152304327 152304327 single base substitution C T intron_variant BRCA-FR 6 152315170 152315170 single base substitution C T intron_variant BRCA-FR 6 152321418 152321418 single base substitution G C intron_variant BRCA-FR 6 152323805 152323805 single base substitution C G intron_variant BRCA-FR 6 152323922 152323922 single base substitution C A intron_variant BRCA-FR 6 152323981 152323981 single base substitution G A intron_variant BRCA-FR 6 152327956 152327956 single base substitution G A intron_variant BRCA-FR 6 152334474 152334474 single base substitution C G intron_variant BRCA-FR 6 152341552 152341552 single base substitution C T intron_variant BRCA-FR 6 152343770 152343770 single base substitution G C intron_variant BRCA-FR 6 152343926 152343926 single base substitution G C intron_variant BRCA-FR 6 152346811 152346811 single base substitution G T intron_variant BRCA-FR 6 152347856 152347856 single base substitution T G intron_variant BRCA-FR 6 152350159 152350159 single base substitution C T intron_variant BRCA-FR 6 152350160 152350160 single base substitution A G intron_variant BRCA-FR 6 152350363 152350363 single base substitution G C intron_variant BRCA-FR 6 152359783 152359783 single base substitution A T intron_variant BRCA-FR 6 152360733 152360733 single base substitution C T intron_variant BRCA-FR 6 152367544 152367544 single base substitution C G intron_variant BRCA-FR 6 152368162 152368162 single base substitution C A intron_variant BRCA-FR 6 152370854 152370854 single base substitution G A intron_variant BRCA-FR 6 152388933 152388933 single base substitution G T intron_variant BRCA-FR 6 152389088 152389088 single base substitution G A intron_variant BRCA-FR 6 152390545 152390545 single base substitution G T intron_variant BRCA-FR 6 152390810 152390810 single base substitution G C intron_variant BRCA-FR 6 152390986 152390986 single base substitution C T intron_variant BRCA-FR 6 152396142 152396142 single base substitution C A intron_variant BRCA-FR 6 152397745 152397745 single base substitution G C intron_variant BRCA-FR 6 152406263 152406263 single base substitution G A intron_variant BRCA-FR 6 152406331 152406331 single base substitution G C intron_variant BRCA-FR 6 152407023 152407023 single base substitution G C intron_variant BRCA-FR 6 152407032 152407032 single base substitution G A intron_variant BRCA-FR 6 152409472 152409472 single base substitution G A intron_variant BRCA-FR 6 152410224 152410224 single base substitution G C intron_variant BRCA-FR 6 152410237 152410237 single base substitution A C intron_variant BRCA-FR 6 152420565 152420565 single base substitution C T 3_prime_UTR_variant BRCA-FR 6 152420565 152420565 single base substitution C T downstream_gene_variant BRCA-FR 6 152420565 152420565 single base substitution C T intron_variant BRCA-FR 6 152434526 152434526 single base substitution G C intron_variant BRCA-UK 6 151994784 151994784 single base substitution G T intron_variant BRCA-UK 6 151999301 151999301 single base substitution G A intron_variant BRCA-UK 6 152019981 152019981 single base substitution G A intron_variant BRCA-UK 6 152058258 152058258 single base substitution C G intron_variant BRCA-UK 6 152079836 152079836 single base substitution G A intron_variant BRCA-UK 6 152102140 152102140 single base substitution G A intron_variant BRCA-UK 6 152108836 152108836 single base substitution C A intron_variant BRCA-UK 6 152143517 152143517 deletion of <=200bp C - intron_variant BRCA-UK 6 152162295 152162295 single base substitution C T intron_variant BRCA-UK 6 152196614 152196614 single base substitution A G intron_variant BRCA-UK 6 152203833 152203833 single base substitution C G intron_variant BRCA-UK 6 152232860 152232860 single base substitution G A intron_variant BRCA-UK 6 152268411 152268411 single base substitution A G intron_variant BRCA-UK 6 152279398 152279398 single base substitution G C intron_variant BRCA-UK 6 152288057 152288057 single base substitution C G intron_variant BRCA-UK 6 152304747 152304747 single base substitution A T intron_variant BRCA-UK 6 152325529 152325529 single base substitution C T intron_variant BRCA-UK 6 152346999 152346999 single base substitution C T intron_variant BRCA-UK 6 152360278 152360278 single base substitution C T intron_variant BRCA-UK 6 152381823 152381823 single base substitution C T intron_variant BRCA-UK 6 152384628 152384628 single base substitution C T downstream_gene_variant BRCA-UK 6 152384628 152384628 single base substitution C T intron_variant BRCA-UK 6 152411331 152411331 single base substitution G A intron_variant BRCA-UK 6 152420330 152420330 single base substitution C G 3_prime_UTR_variant BRCA-UK 6 152420330 152420330 single base substitution C G downstream_gene_variant BRCA-UK 6 152420330 152420330 single base substitution C G intron_variant BRCA-UK 6 152420871 152420871 single base substitution C G 3_prime_UTR_variant BRCA-UK 6 152420871 152420871 single base substitution C G downstream_gene_variant BRCA-UK 6 152420871 152420871 single base substitution C G intron_variant BRCA-UK 6 152431965 152431965 single base substitution A T intron_variant BRCA-US 6 152129128 152129131 deletion of <=200bp CCGT - downstream_gene_variant BRCA-US 6 152129128 152129131 deletion of <=200bp CCGT - frameshift_variant NR27 BRCA-US 6 152129128 152129131 deletion of <=200bp CCGT - upstream_gene_variant BRCA-US 6 152201810 152201810 single base substitution C T intron_variant BRCA-US 6 152201810 152201810 single base substitution C T missense_variant P222S 664C>T BRCA-US 6 152201810 152201810 single base substitution C T missense_variant P49S 145C>T BRCA-US 6 152201810 152201810 single base substitution C T missense_variant P7S 19C>T BRCA-US 6 152265369 152265369 single base substitution G A exon_variant BRCA-US 6 152265369 152265369 single base substitution G A intron_variant BRCA-US 6 152265369 152265369 single base substitution G A synonymous_variant G101G 303G>A BRCA-US 6 152265369 152265369 single base substitution G A synonymous_variant G274G 822G>A BRCA-US 6 152332832 152332832 single base substitution G C intron_variant BRCA-US 6 152332832 152332832 single base substitution G C missense_variant E207Q 619G>C BRCA-US 6 152332832 152332832 single base substitution G C missense_variant E268Q 802G>C BRCA-US 6 152332832 152332832 single base substitution G C missense_variant E380Q 1138G>C BRCA-US 6 152332832 152332832 single base substitution G C missense_variant E53Q 157G>C BRCA-US 6 152382234 152382234 single base substitution C G downstream_gene_variant BRCA-US 6 152382234 152382234 single base substitution C G synonymous_variant L187L 561C>G BRCA-US 6 152382234 152382234 single base substitution C G synonymous_variant L275L 825C>G BRCA-US 6 152382234 152382234 single base substitution C G synonymous_variant L336L 1008C>G BRCA-US 6 152382234 152382234 single base substitution C G synonymous_variant L448L 1344C>G BRCA-US 6 152419880 152419880 single base substitution G C intron_variant BRCA-US 6 152419880 152419880 single base substitution G C missense_variant E262Q 784G>C BRCA-US 6 152419880 152419880 single base substitution G C missense_variant E411Q 1231G>C BRCA-US 6 152419880 152419880 single base substitution G C missense_variant E523Q 1567G>C BRCA-US 6 152420091 152420091 single base substitution C A intron_variant BRCA-US 6 152420091 152420091 single base substitution C A missense_variant A332D 995C>A BRCA-US 6 152420091 152420091 single base substitution C A missense_variant A481D 1442C>A BRCA-US 6 152420091 152420091 single base substitution C A missense_variant A593D 1778C>A BRCA-US 6 152451876 152451876 single base substitution G A downstream_gene_variant BRCA-US 6 152453309 152453309 single base substitution G C downstream_gene_variant BRCA-US 6 152454417 152454417 single base substitution A G downstream_gene_variant BRCA-US 6 152454589 152454589 single base substitution C A downstream_gene_variant BTCA-JP 6 152129356 152129356 single base substitution G A downstream_gene_variant BTCA-JP 6 152129356 152129356 single base substitution G A exon_variant BTCA-JP 6 152129356 152129356 single base substitution G A synonymous_variant V103V 309G>A BTCA-JP 6 152129356 152129356 single base substitution G A upstream_gene_variant BTCA-JP 6 152201737 152201737 single base substitution G T intron_variant BTCA-JP 6 152201737 152201737 single base substitution G T upstream_gene_variant BTCA-JP 6 152201873 152201873 single base substitution C T intron_variant BTCA-JP 6 152201873 152201873 single base substitution C T missense_variant R243C 727C>T BTCA-JP 6 152201873 152201873 single base substitution C T missense_variant R28C 82C>T BTCA-JP 6 152201873 152201873 single base substitution C T missense_variant R70C 208C>T BTCA-JP 6 152201885 152201885 single base substitution G A intron_variant BTCA-JP 6 152201885 152201885 single base substitution G A missense_variant E247K 739G>A BTCA-JP 6 152201885 152201885 single base substitution G A missense_variant E32K 94G>A BTCA-JP 6 152201885 152201885 single base substitution G A missense_variant E74K 220G>A BTCA-JP 6 152265621 152265621 single base substitution C G exon_variant BTCA-JP 6 152265621 152265621 single base substitution C G intron_variant BTCA-JP 6 152265621 152265621 single base substitution C G missense_variant I185M 555C>G BTCA-JP 6 152265621 152265621 single base substitution C G missense_variant I358M 1074C>G BTCA-JP 6 152265653 152265653 single base substitution C T intron_variant BTCA-JP 6 152382159 152382159 single base substitution G T missense_variant E162D 486G>T BTCA-JP 6 152382159 152382159 single base substitution G T missense_variant E250D 750G>T BTCA-JP 6 152382159 152382159 single base substitution G T missense_variant E311D 933G>T BTCA-JP 6 152382159 152382159 single base substitution G T missense_variant E423D 1269G>T BTCA-JP 6 152382159 152382159 single base substitution G T missense_variant E96D 288G>T BTCA-JP 6 152415500 152415500 insertion of <=200bp - CT intron_variant BTCA-JP 6 152415553 152415553 single base substitution C T intron_variant BTCA-JP 6 152415553 152415553 single base substitution C T missense_variant S207F 620C>T BTCA-JP 6 152415553 152415553 single base substitution C T missense_variant S356F 1067C>T BTCA-JP 6 152415553 152415553 single base substitution C T missense_variant S468F 1403C>T BTCA-JP 6 152420156 152420156 single base substitution C A 3_prime_UTR_variant BTCA-JP 6 152420156 152420156 single base substitution C A downstream_gene_variant BTCA-JP 6 152420156 152420156 single base substitution C A intron_variant BTCA-JP 6 152443729 152443729 single base substitution G A intron_variant BTCA-JP 6 152443757 152443757 single base substitution G A intron_variant BTCA-JP 6 152446472 152446472 single base substitution C T missense_variant P308S 922C>T BTCA-JP 6 152453204 152453204 single base substitution C T downstream_gene_variant BTCA-JP 6 152453258 152453258 single base substitution G A downstream_gene_variant CESC-US 6 152163896 152163896 single base substitution A G intron_variant CESC-US 6 152163896 152163896 single base substitution A G missense_variant K206R 617A>G CESC-US 6 152163896 152163896 single base substitution A G missense_variant K33R 98A>G CESC-US 6 152443192 152443192 single base substitution C T intron_variant CLLE-ES 6 151983449 151983449 single base substitution A G intron_variant CLLE-ES 6 151983888 151983888 single base substitution A C intron_variant CLLE-ES 6 152013841 152013841 single base substitution G T intron_variant CLLE-ES 6 152036293 152036293 single base substitution A G intron_variant CLLE-ES 6 152053336 152053336 single base substitution T G intron_variant CLLE-ES 6 152082215 152082215 single base substitution G A intron_variant CLLE-ES 6 152086172 152086172 single base substitution G A intron_variant CLLE-ES 6 152127881 152127881 single base substitution C G intron_variant CLLE-ES 6 152127881 152127881 single base substitution C G upstream_gene_variant CLLE-ES 6 152139628 152139628 single base substitution T C intron_variant CLLE-ES 6 152173926 152173926 single base substitution A C intron_variant CLLE-ES 6 152175928 152175928 single base substitution C G intron_variant CLLE-ES 6 152219465 152219465 single base substitution T C intron_variant CLLE-ES 6 152238276 152238276 single base substitution C T intron_variant CLLE-ES 6 152273934 152273934 single base substitution C T intron_variant CLLE-ES 6 152286941 152286941 single base substitution A C intron_variant CLLE-ES 6 152287320 152287320 single base substitution C T intron_variant CLLE-ES 6 152303037 152303037 single base substitution G C intron_variant CLLE-ES 6 152303328 152303328 single base substitution G A intron_variant CLLE-ES 6 152305595 152305595 single base substitution G T downstream_gene_variant CLLE-ES 6 152305595 152305595 single base substitution G T intron_variant CLLE-ES 6 152316249 152316249 single base substitution G A intron_variant CLLE-ES 6 152344133 152344133 single base substitution A G intron_variant CLLE-ES 6 152366467 152366467 single base substitution G T intron_variant CLLE-ES 6 152367248 152367248 single base substitution G A intron_variant CLLE-ES 6 152368107 152368107 single base substitution C T intron_variant CLLE-ES 6 152373128 152373128 single base substitution G T intron_variant CLLE-ES 6 152446894 152446894 single base substitution C A 3_prime_UTR_variant COAD-US 6 152129077 152129077 single base substitution T C downstream_gene_variant COAD-US 6 152129077 152129077 single base substitution T C synonymous_variant S10S 30T>C COAD-US 6 152129077 152129077 single base substitution T C upstream_gene_variant COAD-US 6 152129249 152129249 single base substitution G A downstream_gene_variant COAD-US 6 152129249 152129249 single base substitution G A exon_variant COAD-US 6 152129249 152129249 single base substitution G A missense_variant A68T 202G>A COAD-US 6 152129249 152129249 single base substitution G A upstream_gene_variant COAD-US 6 152129287 152129287 deletion of <=200bp C - downstream_gene_variant COAD-US 6 152129287 152129287 deletion of <=200bp C - exon_variant COAD-US 6 152129287 152129287 deletion of <=200bp C - frameshift_variant Y80 COAD-US 6 152129287 152129287 deletion of <=200bp C - upstream_gene_variant COAD-US 6 152129308 152129308 single base substitution G C downstream_gene_variant COAD-US 6 152129308 152129308 single base substitution G C exon_variant COAD-US 6 152129308 152129308 single base substitution G C synonymous_variant A87A 261G>C COAD-US 6 152129308 152129308 single base substitution G C upstream_gene_variant COAD-US 6 152129323 152129323 single base substitution C T downstream_gene_variant COAD-US 6 152129323 152129323 single base substitution C T exon_variant COAD-US 6 152129323 152129323 single base substitution C T synonymous_variant N92N 276C>T COAD-US 6 152129323 152129323 single base substitution C T upstream_gene_variant COAD-US 6 152265323 152265323 single base substitution G A exon_variant COAD-US 6 152265323 152265323 single base substitution G A intron_variant COAD-US 6 152265323 152265323 single base substitution G A missense_variant R259Q 776G>A COAD-US 6 152265323 152265323 single base substitution G A missense_variant R86Q 257G>A COAD-US 6 152265339 152265339 single base substitution G T exon_variant COAD-US 6 152265339 152265339 single base substitution G T intron_variant COAD-US 6 152265339 152265339 single base substitution G T missense_variant M264I 792G>T COAD-US 6 152265339 152265339 single base substitution G T missense_variant M91I 273G>T COAD-US 6 152265418 152265418 single base substitution C A exon_variant COAD-US 6 152265418 152265418 single base substitution C A intron_variant COAD-US 6 152265418 152265418 single base substitution C A missense_variant L118I 352C>A COAD-US 6 152265418 152265418 single base substitution C A missense_variant L291I 871C>A COAD-US 6 152265432 152265432 single base substitution G A exon_variant COAD-US 6 152265432 152265432 single base substitution G A intron_variant COAD-US 6 152265432 152265432 single base substitution G A synonymous_variant P122P 366G>A COAD-US 6 152265432 152265432 single base substitution G A synonymous_variant P295P 885G>A COAD-US 6 152265466 152265466 single base substitution G T exon_variant COAD-US 6 152265466 152265466 single base substitution G T intron_variant COAD-US 6 152265466 152265466 single base substitution G T missense_variant A134S 400G>T COAD-US 6 152265466 152265466 single base substitution G T missense_variant A307S 919G>T COAD-US 6 152265534 152265534 single base substitution C A exon_variant COAD-US 6 152265534 152265534 single base substitution C A intron_variant COAD-US 6 152265534 152265534 single base substitution C A synonymous_variant S156S 468C>A COAD-US 6 152265534 152265534 single base substitution C A synonymous_variant S329S 987C>A COAD-US 6 152265534 152265534 single base substitution C T exon_variant COAD-US 6 152265534 152265534 single base substitution C T intron_variant COAD-US 6 152265534 152265534 single base substitution C T synonymous_variant S156S 468C>T COAD-US 6 152265534 152265534 single base substitution C T synonymous_variant S329S 987C>T COAD-US 6 152419948 152419948 single base substitution C T intron_variant COAD-US 6 152419948 152419948 single base substitution C T synonymous_variant D284D 852C>T COAD-US 6 152419948 152419948 single base substitution C T synonymous_variant D433D 1299C>T COAD-US 6 152419948 152419948 single base substitution C T synonymous_variant D545D 1635C>T COAD-US 6 152419956 152419956 single base substitution G A intron_variant COAD-US 6 152419956 152419956 single base substitution G A missense_variant R287H 860G>A COAD-US 6 152419956 152419956 single base substitution G A missense_variant R436H 1307G>A COAD-US 6 152419956 152419956 single base substitution G A missense_variant R548H 1643G>A COAD-US 6 152420095 152420095 single base substitution G A intron_variant COAD-US 6 152420095 152420095 single base substitution G A synonymous_variant T333T 999G>A COAD-US 6 152420095 152420095 single base substitution G A synonymous_variant T482T 1446G>A COAD-US 6 152420095 152420095 single base substitution G A synonymous_variant T594T 1782G>A COAD-US 6 152443744 152443744 single base substitution G T intron_variant COAD-US 6 152443751 152443751 single base substitution G A intron_variant COCA-CN 6 151974508 151974508 single base substitution G A upstream_gene_variant COCA-CN 6 151982264 151982264 single base substitution T A intron_variant COCA-CN 6 151983177 151983177 single base substitution C T intron_variant COCA-CN 6 151987846 151987846 single base substitution T C intron_variant COCA-CN 6 151987944 151987944 single base substitution G A intron_variant COCA-CN 6 151990235 151990235 single base substitution T C intron_variant COCA-CN 6 151990328 151990328 single base substitution G A intron_variant COCA-CN 6 151997259 151997259 single base substitution G A intron_variant COCA-CN 6 151999105 151999105 single base substitution A G intron_variant COCA-CN 6 151999106 151999106 single base substitution T A intron_variant COCA-CN 6 152007223 152007223 single base substitution T A intron_variant COCA-CN 6 152007223 152007223 single base substitution T A upstream_gene_variant COCA-CN 6 152008388 152008388 single base substitution T C intron_variant COCA-CN 6 152008388 152008388 single base substitution T C upstream_gene_variant COCA-CN 6 152035710 152035710 single base substitution C A intron_variant COCA-CN 6 152037486 152037486 single base substitution C A intron_variant COCA-CN 6 152072991 152072991 single base substitution C T intron_variant COCA-CN 6 152087640 152087640 single base substitution A T intron_variant COCA-CN 6 152094963 152094963 single base substitution G T intron_variant COCA-CN 6 152096755 152096755 single base substitution C T intron_variant COCA-CN 6 152097760 152097760 single base substitution G T intron_variant COCA-CN 6 152103792 152103792 single base substitution T C intron_variant COCA-CN 6 152107191 152107191 single base substitution C A intron_variant COCA-CN 6 152107647 152107647 single base substitution G A intron_variant COCA-CN 6 152114448 152114448 single base substitution A G intron_variant COCA-CN 6 152128894 152128894 single base substitution C A 5_prime_UTR_variant COCA-CN 6 152128894 152128894 single base substitution C A intron_variant COCA-CN 6 152128894 152128894 single base substitution C A upstream_gene_variant COCA-CN 6 152129227 152129227 single base substitution C T downstream_gene_variant COCA-CN 6 152129227 152129227 single base substitution C T synonymous_variant Y60Y 180C>T COCA-CN 6 152129227 152129227 single base substitution C T upstream_gene_variant COCA-CN 6 152130875 152130875 single base substitution G A downstream_gene_variant COCA-CN 6 152130875 152130875 single base substitution G A intron_variant COCA-CN 6 152147866 152147866 single base substitution A C intron_variant COCA-CN 6 152163832 152163832 single base substitution T C intron_variant COCA-CN 6 152163832 152163832 single base substitution T C missense_variant C12R 34T>C COCA-CN 6 152163832 152163832 single base substitution T C missense_variant C185R 553T>C COCA-CN 6 152164004 152164004 single base substitution T A intron_variant COCA-CN 6 152164032 152164032 single base substitution A C intron_variant COCA-CN 6 152169628 152169628 single base substitution T A intron_variant COCA-CN 6 152170020 152170020 single base substitution G A intron_variant COCA-CN 6 152176818 152176818 single base substitution T A intron_variant COCA-CN 6 152178630 152178630 single base substitution A C intron_variant COCA-CN 6 152187473 152187473 single base substitution T C intron_variant COCA-CN 6 152201873 152201873 single base substitution C T intron_variant COCA-CN 6 152201873 152201873 single base substitution C T missense_variant R243C 727C>T COCA-CN 6 152201873 152201873 single base substitution C T missense_variant R28C 82C>T COCA-CN 6 152201873 152201873 single base substitution C T missense_variant R70C 208C>T COCA-CN 6 152207893 152207893 single base substitution C T intron_variant COCA-CN 6 152227457 152227457 single base substitution A T intron_variant COCA-CN 6 152236731 152236731 single base substitution G A intron_variant COCA-CN 6 152246267 152246267 single base substitution G T intron_variant COCA-CN 6 152267615 152267615 single base substitution G T intron_variant COCA-CN 6 152273680 152273680 single base substitution T C intron_variant COCA-CN 6 152276409 152276409 single base substitution T G intron_variant COCA-CN 6 152280130 152280130 single base substitution C T intron_variant COCA-CN 6 152286093 152286093 single base substitution C T intron_variant COCA-CN 6 152286625 152286625 single base substitution T C intron_variant COCA-CN 6 152294479 152294479 single base substitution G A intron_variant COCA-CN 6 152299099 152299099 single base substitution A G intron_variant COCA-CN 6 152301580 152301580 single base substitution A G intron_variant COCA-CN 6 152302695 152302695 single base substitution C T intron_variant COCA-CN 6 152307304 152307304 single base substitution G T downstream_gene_variant COCA-CN 6 152307304 152307304 single base substitution G T intron_variant COCA-CN 6 152314045 152314045 single base substitution C T intron_variant COCA-CN 6 152329769 152329769 single base substitution G T intron_variant COCA-CN 6 152332045 152332045 single base substitution T C intron_variant COCA-CN 6 152335478 152335478 single base substitution C T intron_variant COCA-CN 6 152344125 152344125 single base substitution A G intron_variant COCA-CN 6 152347858 152347858 single base substitution G C intron_variant COCA-CN 6 152348621 152348621 single base substitution T G intron_variant COCA-CN 6 152350588 152350588 single base substitution G T intron_variant COCA-CN 6 152350798 152350798 single base substitution G T intron_variant COCA-CN 6 152350805 152350805 single base substitution G T intron_variant COCA-CN 6 152350824 152350824 single base substitution A G intron_variant COCA-CN 6 152350958 152350958 single base substitution C G intron_variant COCA-CN 6 152372493 152372493 single base substitution A C intron_variant COCA-CN 6 152377851 152377851 single base substitution G T intron_variant COCA-CN 6 152381873 152381873 single base substitution T C intron_variant COCA-CN 6 152382325 152382325 single base substitution A G downstream_gene_variant COCA-CN 6 152382325 152382325 single base substitution A G intron_variant COCA-CN 6 152382420 152382420 single base substitution A G downstream_gene_variant COCA-CN 6 152382420 152382420 single base substitution A G intron_variant COCA-CN 6 152389188 152389188 single base substitution C A intron_variant COCA-CN 6 152392712 152392712 single base substitution C G intron_variant COCA-CN 6 152396945 152396945 single base substitution C T intron_variant COCA-CN 6 152402118 152402118 single base substitution G A intron_variant COCA-CN 6 152411828 152411828 single base substitution A G intron_variant COCA-CN 6 152414233 152414233 single base substitution G A intron_variant COCA-CN 6 152419843 152419843 single base substitution C T intron_variant COCA-CN 6 152425137 152425137 single base substitution G T downstream_gene_variant COCA-CN 6 152425137 152425137 single base substitution G T intron_variant COCA-CN 6 152443667 152443667 single base substitution T C intron_variant COCA-CN 6 152443792 152443792 single base substitution C T intron_variant COCA-CN 6 152444544 152444544 single base substitution A G intron_variant COCA-CN 6 152450763 152450763 single base substitution C A downstream_gene_variant COCA-CN 6 152452013 152452013 single base substitution A G downstream_gene_variant COCA-CN 6 152453368 152453368 single base substitution C A downstream_gene_variant EOPC-DE 6 151976166 151976166 single base substitution C T upstream_gene_variant EOPC-DE 6 151988676 151988676 single base substitution T A intron_variant EOPC-DE 6 151990961 151990961 single base substitution A G intron_variant EOPC-DE 6 152052042 152052042 single base substitution A C intron_variant EOPC-DE 6 152059614 152059614 single base substitution C A intron_variant EOPC-DE 6 152100703 152100703 single base substitution T A intron_variant EOPC-DE 6 152153068 152153068 single base substitution G A intron_variant EOPC-DE 6 152267397 152267397 single base substitution C A intron_variant EOPC-DE 6 152273579 152273579 single base substitution T A intron_variant EOPC-DE 6 152293760 152293760 single base substitution A G intron_variant EOPC-DE 6 152313063 152313063 single base substitution T A intron_variant EOPC-DE 6 152315545 152315545 single base substitution A G intron_variant EOPC-DE 6 152341711 152341711 single base substitution G A intron_variant EOPC-DE 6 152400982 152400982 single base substitution A G intron_variant ESAD-UK 6 151973199 151973199 single base substitution T G upstream_gene_variant ESAD-UK 6 151979759 151979759 single base substitution T G intron_variant ESAD-UK 6 151979780 151979780 single base substitution G T intron_variant ESAD-UK 6 151980611 151980611 single base substitution C A intron_variant ESAD-UK 6 151983955 151983955 single base substitution C T intron_variant ESAD-UK 6 151990147 151990147 single base substitution T G intron_variant ESAD-UK 6 151993414 151993414 deletion of <=200bp A - intron_variant ESAD-UK 6 151993504 151993504 single base substitution C T intron_variant ESAD-UK 6 151993904 151993904 single base substitution G A intron_variant ESAD-UK 6 151994716 151994716 single base substitution C T intron_variant ESAD-UK 6 151995968 151995968 single base substitution T C intron_variant ESAD-UK 6 151996740 151996740 single base substitution T C intron_variant ESAD-UK 6 151997052 151997052 single base substitution A C intron_variant ESAD-UK 6 151997990 151997990 single base substitution C T intron_variant ESAD-UK 6 151998362 151998362 single base substitution G C intron_variant ESAD-UK 6 152001502 152001502 single base substitution C A intron_variant ESAD-UK 6 152001612 152001612 single base substitution G C intron_variant ESAD-UK 6 152002136 152002136 single base substitution T C intron_variant ESAD-UK 6 152002832 152002832 single base substitution C T intron_variant ESAD-UK 6 152002879 152002879 single base substitution G A intron_variant ESAD-UK 6 152003195 152003195 single base substitution G A intron_variant ESAD-UK 6 152004133 152004133 single base substitution T A intron_variant ESAD-UK 6 152006809 152006809 single base substitution A G intron_variant ESAD-UK 6 152006809 152006809 single base substitution A G upstream_gene_variant ESAD-UK 6 152007101 152007101 single base substitution C T intron_variant ESAD-UK 6 152007101 152007101 single base substitution C T upstream_gene_variant ESAD-UK 6 152007691 152007691 single base substitution C A intron_variant ESAD-UK 6 152007691 152007691 single base substitution C A upstream_gene_variant ESAD-UK 6 152007755 152007755 single base substitution G A intron_variant ESAD-UK 6 152007755 152007755 single base substitution G A upstream_gene_variant ESAD-UK 6 152009228 152009228 single base substitution A T intron_variant ESAD-UK 6 152009228 152009228 single base substitution A T upstream_gene_variant ESAD-UK 6 152010481 152010481 single base substitution C T intron_variant ESAD-UK 6 152010481 152010481 single base substitution C T upstream_gene_variant ESAD-UK 6 152011297 152011297 single base substitution G C intron_variant ESAD-UK 6 152011297 152011297 single base substitution G C upstream_gene_variant ESAD-UK 6 152011407 152011407 single base substitution G C intron_variant ESAD-UK 6 152011407 152011407 single base substitution G C upstream_gene_variant ESAD-UK 6 152011817 152011817 single base substitution T G intron_variant ESAD-UK 6 152012103 152012103 single base substitution C T intron_variant ESAD-UK 6 152013513 152013513 single base substitution C A intron_variant ESAD-UK 6 152013762 152013762 single base substitution C T intron_variant ESAD-UK 6 152014915 152014915 single base substitution G A intron_variant ESAD-UK 6 152014951 152014951 single base substitution C T intron_variant ESAD-UK 6 152015386 152015386 single base substitution T G intron_variant ESAD-UK 6 152016461 152016461 single base substitution C A intron_variant ESAD-UK 6 152016581 152016581 single base substitution G A intron_variant ESAD-UK 6 152016582 152016582 single base substitution C A intron_variant ESAD-UK 6 152018002 152018002 single base substitution C A intron_variant ESAD-UK 6 152019338 152019338 deletion of <=200bp A - intron_variant ESAD-UK 6 152019373 152019373 single base substitution C T intron_variant ESAD-UK 6 152020240 152020240 single base substitution C T intron_variant ESAD-UK 6 152022074 152022074 single base substitution T C intron_variant ESAD-UK 6 152022704 152022704 single base substitution A C intron_variant ESAD-UK 6 152022713 152022713 single base substitution C T intron_variant ESAD-UK 6 152023414 152023414 single base substitution C T intron_variant ESAD-UK 6 152025911 152025911 single base substitution C T intron_variant ESAD-UK 6 152025925 152025925 single base substitution G A intron_variant ESAD-UK 6 152026095 152026095 single base substitution T G intron_variant ESAD-UK 6 152028855 152028855 single base substitution T A intron_variant ESAD-UK 6 152029996 152029996 single base substitution A G intron_variant ESAD-UK 6 152030079 152030079 single base substitution T G intron_variant ESAD-UK 6 152030289 152030289 single base substitution C G intron_variant ESAD-UK 6 152030453 152030453 insertion of <=200bp - T intron_variant ESAD-UK 6 152030940 152030940 single base substitution T A intron_variant ESAD-UK 6 152031546 152031546 single base substitution C A intron_variant ESAD-UK 6 152036642 152036642 single base substitution C T intron_variant ESAD-UK 6 152039537 152039537 single base substitution T C intron_variant ESAD-UK 6 152040786 152040786 single base substitution T G intron_variant ESAD-UK 6 152041813 152041813 single base substitution C T intron_variant ESAD-UK 6 152041880 152041880 single base substitution T G intron_variant ESAD-UK 6 152042968 152042968 single base substitution C A intron_variant ESAD-UK 6 152043604 152043604 single base substitution G A intron_variant ESAD-UK 6 152044432 152044432 single base substitution G T intron_variant ESAD-UK 6 152044596 152044596 single base substitution C T intron_variant ESAD-UK 6 152044618 152044618 single base substitution C A intron_variant ESAD-UK 6 152044846 152044846 single base substitution A G intron_variant ESAD-UK 6 152045033 152045033 single base substitution C T intron_variant ESAD-UK 6 152045889 152045889 single base substitution C T intron_variant ESAD-UK 6 152047723 152047723 single base substitution G A intron_variant ESAD-UK 6 152048706 152048706 deletion of <=200bp T - intron_variant ESAD-UK 6 152048805 152048805 single base substitution G T intron_variant ESAD-UK 6 152049809 152049809 single base substitution C A intron_variant ESAD-UK 6 152050317 152050317 single base substitution C A intron_variant ESAD-UK 6 152051377 152051377 single base substitution C T intron_variant ESAD-UK 6 152051935 152051935 single base substitution C A intron_variant ESAD-UK 6 152053060 152053060 single base substitution T A intron_variant ESAD-UK 6 152053277 152053277 single base substitution T C intron_variant ESAD-UK 6 152053816 152053816 single base substitution T C intron_variant ESAD-UK 6 152054008 152054008 single base substitution A C intron_variant ESAD-UK 6 152054368 152054368 single base substitution C T intron_variant ESAD-UK 6 152055462 152055462 single base substitution T C intron_variant ESAD-UK 6 152057478 152057478 single base substitution A C intron_variant ESAD-UK 6 152058321 152058321 deletion of <=200bp T - intron_variant ESAD-UK 6 152058323 152058323 single base substitution G A intron_variant ESAD-UK 6 152058466 152058466 single base substitution T C intron_variant ESAD-UK 6 152059747 152059747 single base substitution T G intron_variant ESAD-UK 6 152060075 152060075 single base substitution T G intron_variant ESAD-UK 6 152060447 152060447 single base substitution G A intron_variant ESAD-UK 6 152060533 152060533 single base substitution T G intron_variant ESAD-UK 6 152060845 152060845 single base substitution T G intron_variant ESAD-UK 6 152061988 152061988 single base substitution G C intron_variant ESAD-UK 6 152062530 152062530 single base substitution C T intron_variant ESAD-UK 6 152063449 152063449 insertion of <=200bp - T intron_variant ESAD-UK 6 152063471 152063471 insertion of <=200bp - G intron_variant ESAD-UK 6 152063620 152063620 single base substitution G T intron_variant ESAD-UK 6 152063779 152063779 single base substitution G C intron_variant ESAD-UK 6 152063797 152063797 deletion of <=200bp A - intron_variant ESAD-UK 6 152066512 152066512 single base substitution T G intron_variant ESAD-UK 6 152066610 152066610 single base substitution T C intron_variant ESAD-UK 6 152067134 152067134 single base substitution A C intron_variant ESAD-UK 6 152067179 152067179 single base substitution T G intron_variant ESAD-UK 6 152067762 152067762 single base substitution A C intron_variant ESAD-UK 6 152068092 152068092 single base substitution C T intron_variant ESAD-UK 6 152069400 152069400 deletion of <=200bp T - intron_variant ESAD-UK 6 152069992 152069992 single base substitution A G intron_variant ESAD-UK 6 152072143 152072143 single base substitution A T intron_variant ESAD-UK 6 152072701 152072701 single base substitution T C intron_variant ESAD-UK 6 152073081 152073081 single base substitution T C intron_variant ESAD-UK 6 152073339 152073339 single base substitution T G intron_variant ESAD-UK 6 152074090 152074090 insertion of <=200bp - T intron_variant ESAD-UK 6 152074814 152074814 single base substitution C T intron_variant ESAD-UK 6 152075149 152075149 single base substitution T A intron_variant ESAD-UK 6 152076148 152076148 single base substitution A G intron_variant ESAD-UK 6 152076518 152076518 single base substitution T G intron_variant ESAD-UK 6 152077330 152077330 single base substitution T C intron_variant ESAD-UK 6 152078029 152078029 single base substitution G A intron_variant ESAD-UK 6 152078456 152078456 single base substitution C T intron_variant ESAD-UK 6 152079279 152079279 single base substitution A C intron_variant ESAD-UK 6 152081128 152081128 single base substitution A T intron_variant ESAD-UK 6 152083434 152083434 single base substitution C A intron_variant ESAD-UK 6 152083498 152083498 single base substitution C T intron_variant ESAD-UK 6 152085099 152085099 single base substitution G A intron_variant ESAD-UK 6 152085630 152085630 single base substitution G A intron_variant ESAD-UK 6 152086204 152086204 single base substitution T C intron_variant ESAD-UK 6 152086534 152086534 single base substitution T A intron_variant ESAD-UK 6 152087411 152087411 single base substitution C A intron_variant ESAD-UK 6 152087427 152087427 single base substitution C G intron_variant ESAD-UK 6 152089255 152089255 single base substitution A G intron_variant ESAD-UK 6 152090522 152090522 single base substitution T G intron_variant ESAD-UK 6 152090783 152090783 single base substitution C T intron_variant ESAD-UK 6 152090784 152090784 single base substitution G A intron_variant ESAD-UK 6 152091055 152091055 single base substitution C T intron_variant ESAD-UK 6 152091555 152091555 single base substitution T C intron_variant ESAD-UK 6 152091748 152091748 single base substitution G T intron_variant ESAD-UK 6 152092017 152092017 insertion of <=200bp - A intron_variant ESAD-UK 6 152092530 152092530 single base substitution A C intron_variant ESAD-UK 6 152092804 152092804 single base substitution C G intron_variant ESAD-UK 6 152092974 152092974 insertion of <=200bp - A intron_variant ESAD-UK 6 152093506 152093506 single base substitution C G intron_variant ESAD-UK 6 152093950 152093950 single base substitution T C intron_variant ESAD-UK 6 152094443 152094443 single base substitution T C intron_variant ESAD-UK 6 152095280 152095280 single base substitution T G intron_variant ESAD-UK 6 152095740 152095740 single base substitution T G intron_variant ESAD-UK 6 152095792 152095792 single base substitution G C intron_variant ESAD-UK 6 152095969 152095969 single base substitution A C intron_variant ESAD-UK 6 152096091 152096091 single base substitution T G intron_variant ESAD-UK 6 152096226 152096227 deletion of <=200bp CT - intron_variant ESAD-UK 6 152097080 152097080 single base substitution G A intron_variant ESAD-UK 6 152097785 152097785 single base substitution C A intron_variant ESAD-UK 6 152097842 152097842 single base substitution G A intron_variant ESAD-UK 6 152099043 152099043 single base substitution C T intron_variant ESAD-UK 6 152099052 152099052 single base substitution G A intron_variant ESAD-UK 6 152099290 152099290 single base substitution G C intron_variant ESAD-UK 6 152099961 152099961 deletion of <=200bp T - intron_variant ESAD-UK 6 152100650 152100650 deletion of <=200bp G - intron_variant ESAD-UK 6 152102047 152102047 single base substitution T G intron_variant ESAD-UK 6 152102084 152102084 single base substitution C T intron_variant ESAD-UK 6 152102400 152102400 single base substitution G A intron_variant ESAD-UK 6 152102774 152102774 single base substitution T G intron_variant ESAD-UK 6 152102921 152102921 single base substitution A T intron_variant ESAD-UK 6 152102943 152102943 insertion of <=200bp - AC intron_variant ESAD-UK 6 152103116 152103116 single base substitution A G intron_variant ESAD-UK 6 152103560 152103560 single base substitution A C intron_variant ESAD-UK 6 152103607 152103607 single base substitution A C intron_variant ESAD-UK 6 152104245 152104245 single base substitution A C intron_variant ESAD-UK 6 152104280 152104280 single base substitution C T intron_variant ESAD-UK 6 152104793 152104793 single base substitution A C intron_variant ESAD-UK 6 152104833 152104833 single base substitution A T intron_variant ESAD-UK 6 152105426 152105426 single base substitution A T intron_variant ESAD-UK 6 152105575 152105575 single base substitution A C intron_variant ESAD-UK 6 152105940 152105940 single base substitution T A intron_variant ESAD-UK 6 152106023 152106023 single base substitution C A intron_variant ESAD-UK 6 152106518 152106518 single base substitution A C intron_variant ESAD-UK 6 152106569 152106569 single base substitution G C intron_variant ESAD-UK 6 152107854 152107854 insertion of <=200bp - A intron_variant ESAD-UK 6 152108234 152108234 single base substitution G A intron_variant ESAD-UK 6 152108243 152108243 single base substitution T C intron_variant ESAD-UK 6 152108606 152108606 single base substitution C T intron_variant ESAD-UK 6 152108827 152108827 single base substitution T G intron_variant ESAD-UK 6 152109190 152109190 single base substitution A C intron_variant ESAD-UK 6 152109530 152109530 single base substitution C T intron_variant ESAD-UK 6 152110257 152110257 single base substitution C A intron_variant ESAD-UK 6 152110644 152110644 single base substitution G T intron_variant ESAD-UK 6 152111165 152111165 deletion of <=200bp A - intron_variant ESAD-UK 6 152111167 152111167 single base substitution C T intron_variant ESAD-UK 6 152111388 152111388 single base substitution G A intron_variant ESAD-UK 6 152111836 152111836 single base substitution T A intron_variant ESAD-UK 6 152112504 152112504 single base substitution G A intron_variant ESAD-UK 6 152112952 152112952 single base substitution A G intron_variant ESAD-UK 6 152112976 152112976 deletion of <=200bp A - intron_variant ESAD-UK 6 152113002 152113002 single base substitution T G intron_variant ESAD-UK 6 152113456 152113456 single base substitution C G intron_variant ESAD-UK 6 152113470 152113470 single base substitution A G intron_variant ESAD-UK 6 152113491 152113491 single base substitution T C intron_variant ESAD-UK 6 152113512 152113512 single base substitution T A intron_variant ESAD-UK 6 152113806 152113806 single base substitution T G intron_variant ESAD-UK 6 152115436 152115436 single base substitution G T intron_variant ESAD-UK 6 152115741 152115741 single base substitution T G intron_variant ESAD-UK 6 152115904 152115904 single base substitution T G intron_variant ESAD-UK 6 152117021 152117021 single base substitution A T intron_variant ESAD-UK 6 152118250 152118250 single base substitution A C intron_variant ESAD-UK 6 152118298 152118298 single base substitution G A intron_variant ESAD-UK 6 152118959 152118959 single base substitution G A intron_variant ESAD-UK 6 152119009 152119009 single base substitution C T intron_variant ESAD-UK 6 152119013 152119013 single base substitution G A intron_variant ESAD-UK 6 152120179 152120179 single base substitution A T intron_variant ESAD-UK 6 152121058 152121058 single base substitution G C intron_variant ESAD-UK 6 152121058 152121058 single base substitution G C upstream_gene_variant ESAD-UK 6 152122711 152122711 single base substitution T G intron_variant ESAD-UK 6 152122711 152122711 single base substitution T G upstream_gene_variant ESAD-UK 6 152123995 152123995 single base substitution G A intron_variant ESAD-UK 6 152123995 152123995 single base substitution G A upstream_gene_variant ESAD-UK 6 152124017 152124017 single base substitution T G intron_variant ESAD-UK 6 152124017 152124017 single base substitution T G upstream_gene_variant ESAD-UK 6 152124163 152124163 single base substitution A C intron_variant ESAD-UK 6 152124163 152124163 single base substitution A C upstream_gene_variant ESAD-UK 6 152124754 152124754 single base substitution A T intron_variant ESAD-UK 6 152124754 152124754 single base substitution A T upstream_gene_variant ESAD-UK 6 152125587 152125587 single base substitution T G 5_prime_UTR_variant ESAD-UK 6 152125587 152125587 single base substitution T G intron_variant ESAD-UK 6 152125587 152125587 single base substitution T G upstream_gene_variant ESAD-UK 6 152125636 152125636 single base substitution T G 5_prime_UTR_variant ESAD-UK 6 152125636 152125636 single base substitution T G intron_variant ESAD-UK 6 152125636 152125636 single base substitution T G upstream_gene_variant ESAD-UK 6 152126785 152126785 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 6 152126785 152126785 single base substitution C T intron_variant ESAD-UK 6 152126785 152126785 single base substitution C T upstream_gene_variant ESAD-UK 6 152128182 152128182 single base substitution A G intron_variant ESAD-UK 6 152128182 152128182 single base substitution A G upstream_gene_variant ESAD-UK 6 152128676 152128676 single base substitution G A intron_variant ESAD-UK 6 152128676 152128676 single base substitution G A upstream_gene_variant ESAD-UK 6 152128920 152128920 single base substitution C T 5_prime_UTR_variant ESAD-UK 6 152128920 152128920 single base substitution C T intron_variant ESAD-UK 6 152128920 152128920 single base substitution C T upstream_gene_variant ESAD-UK 6 152128943 152128943 single base substitution G A 5_prime_UTR_variant ESAD-UK 6 152128943 152128943 single base substitution G A intron_variant ESAD-UK 6 152128943 152128943 single base substitution G A upstream_gene_variant ESAD-UK 6 152129018 152129018 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 6 152129018 152129018 single base substitution C T downstream_gene_variant ESAD-UK 6 152129018 152129018 single base substitution C T upstream_gene_variant ESAD-UK 6 152129198 152129198 single base substitution G A downstream_gene_variant ESAD-UK 6 152129198 152129198 single base substitution G A missense_variant V51M 151G>A ESAD-UK 6 152129198 152129198 single base substitution G A upstream_gene_variant ESAD-UK 6 152129342 152129342 single base substitution C T downstream_gene_variant ESAD-UK 6 152129342 152129342 single base substitution C T exon_variant ESAD-UK 6 152129342 152129342 single base substitution C T missense_variant P99S 295C>T ESAD-UK 6 152129342 152129342 single base substitution C T upstream_gene_variant ESAD-UK 6 152129401 152129401 single base substitution G A downstream_gene_variant ESAD-UK 6 152129401 152129401 single base substitution G A exon_variant ESAD-UK 6 152129401 152129401 single base substitution G A synonymous_variant S118S 354G>A ESAD-UK 6 152129401 152129401 single base substitution G A upstream_gene_variant ESAD-UK 6 152129736 152129736 single base substitution C A downstream_gene_variant ESAD-UK 6 152129736 152129736 single base substitution C A intron_variant ESAD-UK 6 152129736 152129736 single base substitution C A upstream_gene_variant ESAD-UK 6 152132108 152132108 single base substitution A C downstream_gene_variant ESAD-UK 6 152132108 152132108 single base substitution A C intron_variant ESAD-UK 6 152132547 152132547 single base substitution T C downstream_gene_variant ESAD-UK 6 152132547 152132547 single base substitution T C intron_variant ESAD-UK 6 152133158 152133158 single base substitution G T downstream_gene_variant ESAD-UK 6 152133158 152133158 single base substitution G T intron_variant ESAD-UK 6 152134088 152134088 single base substitution G A downstream_gene_variant ESAD-UK 6 152134088 152134088 single base substitution G A intron_variant ESAD-UK 6 152134552 152134552 single base substitution T G downstream_gene_variant ESAD-UK 6 152134552 152134552 single base substitution T G intron_variant ESAD-UK 6 152134910 152134910 single base substitution T C downstream_gene_variant ESAD-UK 6 152134910 152134910 single base substitution T C intron_variant ESAD-UK 6 152134947 152134947 single base substitution A C downstream_gene_variant ESAD-UK 6 152134947 152134947 single base substitution A C intron_variant ESAD-UK 6 152135470 152135470 single base substitution T C downstream_gene_variant ESAD-UK 6 152135470 152135470 single base substitution T C intron_variant ESAD-UK 6 152135685 152135685 single base substitution C T downstream_gene_variant ESAD-UK 6 152135685 152135685 single base substitution C T intron_variant ESAD-UK 6 152136124 152136124 single base substitution T G downstream_gene_variant ESAD-UK 6 152136124 152136124 single base substitution T G intron_variant ESAD-UK 6 152136282 152136282 single base substitution C A downstream_gene_variant ESAD-UK 6 152136282 152136282 single base substitution C A intron_variant ESAD-UK 6 152136909 152136909 single base substitution A G downstream_gene_variant ESAD-UK 6 152136909 152136909 single base substitution A G intron_variant ESAD-UK 6 152137072 152137072 single base substitution T C downstream_gene_variant ESAD-UK 6 152137072 152137072 single base substitution T C intron_variant ESAD-UK 6 152137258 152137258 single base substitution A G downstream_gene_variant ESAD-UK 6 152137258 152137258 single base substitution A G intron_variant ESAD-UK 6 152137543 152137543 single base substitution C A intron_variant ESAD-UK 6 152137786 152137786 single base substitution T G intron_variant ESAD-UK 6 152137788 152137788 single base substitution C G intron_variant ESAD-UK 6 152137879 152137879 single base substitution A T intron_variant ESAD-UK 6 152137881 152137881 single base substitution A C intron_variant ESAD-UK 6 152137897 152137897 single base substitution G T intron_variant ESAD-UK 6 152138014 152138014 insertion of <=200bp - A intron_variant ESAD-UK 6 152138968 152138968 single base substitution T G intron_variant ESAD-UK 6 152139772 152139772 single base substitution A C intron_variant ESAD-UK 6 152139850 152139850 single base substitution T G intron_variant ESAD-UK 6 152139900 152139900 single base substitution A C intron_variant ESAD-UK 6 152139970 152139970 single base substitution C T intron_variant ESAD-UK 6 152140673 152140673 single base substitution T G intron_variant ESAD-UK 6 152141374 152141374 single base substitution C A intron_variant ESAD-UK 6 152141490 152141490 single base substitution A G intron_variant ESAD-UK 6 152141657 152141657 single base substitution G T intron_variant ESAD-UK 6 152141674 152141674 single base substitution C A intron_variant ESAD-UK 6 152142690 152142690 single base substitution A G intron_variant ESAD-UK 6 152143155 152143155 single base substitution A C intron_variant ESAD-UK 6 152143272 152143272 deletion of <=200bp A - intron_variant ESAD-UK 6 152143722 152143722 single base substitution A G intron_variant ESAD-UK 6 152143822 152143822 single base substitution C G intron_variant ESAD-UK 6 152146009 152146009 single base substitution T C intron_variant ESAD-UK 6 152146070 152146070 single base substitution A G intron_variant ESAD-UK 6 152146694 152146694 single base substitution G T intron_variant ESAD-UK 6 152147289 152147289 single base substitution C T intron_variant ESAD-UK 6 152147384 152147384 single base substitution A C intron_variant ESAD-UK 6 152148314 152148314 single base substitution T G intron_variant ESAD-UK 6 152148397 152148397 single base substitution G A intron_variant ESAD-UK 6 152148413 152148413 single base substitution G A intron_variant ESAD-UK 6 152149272 152149272 single base substitution T C intron_variant ESAD-UK 6 152149989 152149989 single base substitution C T intron_variant ESAD-UK 6 152150524 152150524 single base substitution T A intron_variant ESAD-UK 6 152150569 152150569 single base substitution G T intron_variant ESAD-UK 6 152150641 152150641 single base substitution G T intron_variant ESAD-UK 6 152150670 152150670 single base substitution A C intron_variant ESAD-UK 6 152150980 152150980 single base substitution T C intron_variant ESAD-UK 6 152151262 152151262 single base substitution C T intron_variant ESAD-UK 6 152151522 152151522 single base substitution T A intron_variant ESAD-UK 6 152151534 152151534 single base substitution T A intron_variant ESAD-UK 6 152151535 152151535 single base substitution G T intron_variant ESAD-UK 6 152151640 152151640 insertion of <=200bp - CT intron_variant ESAD-UK 6 152152123 152152123 single base substitution C G intron_variant ESAD-UK 6 152152125 152152125 single base substitution A C intron_variant ESAD-UK 6 152153024 152153024 single base substitution T G intron_variant ESAD-UK 6 152153068 152153068 single base substitution G A intron_variant ESAD-UK 6 152153326 152153326 single base substitution T A intron_variant ESAD-UK 6 152153364 152153364 single base substitution G A intron_variant ESAD-UK 6 152153366 152153366 single base substitution A C intron_variant ESAD-UK 6 152153968 152153968 single base substitution G A intron_variant ESAD-UK 6 152154286 152154286 single base substitution T G intron_variant ESAD-UK 6 152154593 152154593 single base substitution T A intron_variant ESAD-UK 6 152154632 152154632 single base substitution G T intron_variant ESAD-UK 6 152154643 152154643 single base substitution T C intron_variant ESAD-UK 6 152155843 152155843 insertion of <=200bp - C intron_variant ESAD-UK 6 152156010 152156010 single base substitution G T intron_variant ESAD-UK 6 152156059 152156059 single base substitution G A intron_variant ESAD-UK 6 152156692 152156692 single base substitution T G intron_variant ESAD-UK 6 152158723 152158723 single base substitution T G intron_variant ESAD-UK 6 152158873 152158873 single base substitution T C intron_variant ESAD-UK 6 152159089 152159089 single base substitution T G intron_variant ESAD-UK 6 152159665 152159665 single base substitution T G intron_variant ESAD-UK 6 152159826 152159826 single base substitution A C intron_variant ESAD-UK 6 152160085 152160085 single base substitution C A intron_variant ESAD-UK 6 152160330 152160330 single base substitution C A intron_variant ESAD-UK 6 152160712 152160712 single base substitution A C intron_variant ESAD-UK 6 152161532 152161532 single base substitution C A intron_variant ESAD-UK 6 152161916 152161916 single base substitution A C intron_variant ESAD-UK 6 152162073 152162073 single base substitution T G intron_variant ESAD-UK 6 152162285 152162285 single base substitution T G intron_variant ESAD-UK 6 152162549 152162549 single base substitution G T intron_variant ESAD-UK 6 152162974 152162974 single base substitution A G intron_variant ESAD-UK 6 152163211 152163211 single base substitution T A intron_variant ESAD-UK 6 152163738 152163738 single base substitution T G 5_prime_UTR_variant ESAD-UK 6 152163738 152163738 single base substitution T G intron_variant ESAD-UK 6 152163738 152163738 single base substitution T G missense_variant N153K 459T>G ESAD-UK 6 152164806 152164806 single base substitution G A intron_variant ESAD-UK 6 152164811 152164811 single base substitution A C intron_variant ESAD-UK 6 152165621 152165621 single base substitution T G intron_variant ESAD-UK 6 152165681 152165681 single base substitution T G intron_variant ESAD-UK 6 152166495 152166495 single base substitution G T intron_variant ESAD-UK 6 152166562 152166562 single base substitution A T intron_variant ESAD-UK 6 152167050 152167050 single base substitution A T intron_variant ESAD-UK 6 152167082 152167082 single base substitution T A intron_variant ESAD-UK 6 152167082 152167082 single base substitution T C intron_variant ESAD-UK 6 152167346 152167346 single base substitution A G intron_variant ESAD-UK 6 152167424 152167424 single base substitution A G intron_variant ESAD-UK 6 152167590 152167590 single base substitution T C intron_variant ESAD-UK 6 152167699 152167699 single base substitution A G intron_variant ESAD-UK 6 152167807 152167807 single base substitution T G intron_variant ESAD-UK 6 152169614 152169614 single base substitution A T intron_variant ESAD-UK 6 152169837 152169837 single base substitution A G intron_variant ESAD-UK 6 152169963 152169963 single base substitution C A intron_variant ESAD-UK 6 152170231 152170231 single base substitution C T intron_variant ESAD-UK 6 152170578 152170578 single base substitution A G intron_variant ESAD-UK 6 152170789 152170789 single base substitution A T intron_variant ESAD-UK 6 152171128 152171128 insertion of <=200bp - AT intron_variant ESAD-UK 6 152171371 152171371 single base substitution T G intron_variant ESAD-UK 6 152171410 152171410 single base substitution T C intron_variant ESAD-UK 6 152171519 152171519 insertion of <=200bp - AG intron_variant ESAD-UK 6 152171759 152171759 single base substitution T G intron_variant ESAD-UK 6 152171760 152171760 single base substitution T G intron_variant ESAD-UK 6 152172068 152172068 single base substitution T G intron_variant ESAD-UK 6 152172807 152172807 single base substitution C T intron_variant ESAD-UK 6 152173511 152173511 single base substitution T G intron_variant ESAD-UK 6 152173602 152173602 single base substitution G A intron_variant ESAD-UK 6 152173836 152173836 single base substitution C T intron_variant ESAD-UK 6 152175178 152175178 single base substitution T G intron_variant ESAD-UK 6 152175191 152175191 single base substitution A C intron_variant ESAD-UK 6 152175920 152175920 single base substitution G A intron_variant ESAD-UK 6 152176784 152176784 single base substitution T C intron_variant ESAD-UK 6 152177022 152177022 single base substitution T A intron_variant ESAD-UK 6 152177190 152177190 insertion of <=200bp - TC intron_variant ESAD-UK 6 152177821 152177821 single base substitution A T intron_variant ESAD-UK 6 152177828 152177828 single base substitution A C intron_variant ESAD-UK 6 152178231 152178231 single base substitution A G intron_variant ESAD-UK 6 152178506 152178506 single base substitution T G intron_variant ESAD-UK 6 152178731 152178731 single base substitution T G intron_variant ESAD-UK 6 152178869 152178869 single base substitution G T intron_variant ESAD-UK 6 152180985 152180985 single base substitution G T intron_variant ESAD-UK 6 152182077 152182077 single base substitution G A intron_variant ESAD-UK 6 152182671 152182671 single base substitution C T intron_variant ESAD-UK 6 152182834 152182834 single base substitution T C intron_variant ESAD-UK 6 152183142 152183142 single base substitution T C intron_variant ESAD-UK 6 152183830 152183830 single base substitution T G intron_variant ESAD-UK 6 152183901 152183901 single base substitution A C intron_variant ESAD-UK 6 152186469 152186469 single base substitution C A intron_variant ESAD-UK 6 152186819 152186819 single base substitution G T intron_variant ESAD-UK 6 152186981 152186981 single base substitution G A intron_variant ESAD-UK 6 152187384 152187384 single base substitution A C intron_variant ESAD-UK 6 152187614 152187614 deletion of <=200bp C - intron_variant ESAD-UK 6 152187641 152187641 single base substitution T C intron_variant ESAD-UK 6 152187691 152187691 single base substitution T G intron_variant ESAD-UK 6 152187772 152187772 single base substitution T C intron_variant ESAD-UK 6 152187802 152187802 single base substitution T G intron_variant ESAD-UK 6 152188200 152188200 single base substitution C G intron_variant ESAD-UK 6 152188854 152188854 single base substitution A C intron_variant ESAD-UK 6 152188960 152188960 single base substitution T C intron_variant ESAD-UK 6 152189266 152189266 single base substitution G T intron_variant ESAD-UK 6 152189865 152189865 single base substitution C A intron_variant ESAD-UK 6 152190454 152190454 single base substitution C A intron_variant ESAD-UK 6 152190460 152190460 single base substitution A C intron_variant ESAD-UK 6 152190871 152190871 single base substitution T C intron_variant ESAD-UK 6 152190908 152190908 single base substitution G C intron_variant ESAD-UK 6 152191294 152191294 single base substitution T C intron_variant ESAD-UK 6 152191403 152191403 single base substitution G T intron_variant ESAD-UK 6 152191647 152191647 single base substitution C T intron_variant ESAD-UK 6 152191763 152191763 single base substitution C A intron_variant ESAD-UK 6 152191976 152191976 single base substitution A T intron_variant ESAD-UK 6 152192071 152192071 single base substitution C A intron_variant ESAD-UK 6 152192449 152192449 single base substitution G T intron_variant ESAD-UK 6 152192615 152192615 single base substitution T C intron_variant ESAD-UK 6 152193113 152193113 single base substitution T C intron_variant ESAD-UK 6 152193390 152193390 single base substitution A G intron_variant ESAD-UK 6 152193515 152193515 single base substitution C G intron_variant ESAD-UK 6 152193659 152193659 single base substitution T G intron_variant ESAD-UK 6 152194910 152194910 single base substitution A G intron_variant ESAD-UK 6 152194959 152194959 single base substitution T C intron_variant ESAD-UK 6 152195625 152195625 single base substitution G C intron_variant ESAD-UK 6 152195830 152195830 single base substitution A C intron_variant ESAD-UK 6 152195931 152195931 single base substitution T G intron_variant ESAD-UK 6 152196128 152196128 single base substitution G A intron_variant ESAD-UK 6 152196230 152196230 single base substitution A G intron_variant ESAD-UK 6 152196365 152196365 single base substitution A C intron_variant ESAD-UK 6 152196400 152196400 single base substitution T G intron_variant ESAD-UK 6 152197428 152197428 single base substitution C T intron_variant ESAD-UK 6 152197428 152197428 single base substitution C T upstream_gene_variant ESAD-UK 6 152197490 152197490 single base substitution C T intron_variant ESAD-UK 6 152197490 152197490 single base substitution C T upstream_gene_variant ESAD-UK 6 152197835 152197835 single base substitution G A intron_variant ESAD-UK 6 152197835 152197835 single base substitution G A upstream_gene_variant ESAD-UK 6 152197842 152197842 single base substitution C T intron_variant ESAD-UK 6 152197842 152197842 single base substitution C T upstream_gene_variant ESAD-UK 6 152199361 152199361 single base substitution C G intron_variant ESAD-UK 6 152199361 152199361 single base substitution C G upstream_gene_variant ESAD-UK 6 152199422 152199422 single base substitution C T intron_variant ESAD-UK 6 152199422 152199422 single base substitution C T upstream_gene_variant ESAD-UK 6 152199843 152199843 single base substitution A T intron_variant ESAD-UK 6 152199843 152199843 single base substitution A T upstream_gene_variant ESAD-UK 6 152200094 152200094 single base substitution G A intron_variant ESAD-UK 6 152200094 152200094 single base substitution G A upstream_gene_variant ESAD-UK 6 152200118 152200118 single base substitution T C intron_variant ESAD-UK 6 152200118 152200118 single base substitution T C upstream_gene_variant ESAD-UK 6 152200270 152200270 single base substitution C A intron_variant ESAD-UK 6 152200270 152200270 single base substitution C A upstream_gene_variant ESAD-UK 6 152200434 152200434 single base substitution T A intron_variant ESAD-UK 6 152200434 152200434 single base substitution T A upstream_gene_variant ESAD-UK 6 152200788 152200788 single base substitution C T intron_variant ESAD-UK 6 152200788 152200788 single base substitution C T upstream_gene_variant ESAD-UK 6 152200918 152200918 single base substitution G T intron_variant ESAD-UK 6 152200918 152200918 single base substitution G T upstream_gene_variant ESAD-UK 6 152201097 152201097 single base substitution T C intron_variant ESAD-UK 6 152201097 152201097 single base substitution T C upstream_gene_variant ESAD-UK 6 152203482 152203482 single base substitution G T intron_variant ESAD-UK 6 152205215 152205215 single base substitution T C intron_variant ESAD-UK 6 152206164 152206164 deletion of <=200bp G - intron_variant ESAD-UK 6 152206913 152206913 single base substitution C T intron_variant ESAD-UK 6 152208223 152208223 single base substitution T C intron_variant ESAD-UK 6 152208342 152208342 single base substitution T G intron_variant ESAD-UK 6 152209970 152209970 single base substitution T A intron_variant ESAD-UK 6 152210806 152210806 single base substitution T G intron_variant ESAD-UK 6 152210853 152210853 deletion of <=200bp T - intron_variant ESAD-UK 6 152211198 152211198 single base substitution A T intron_variant ESAD-UK 6 152211307 152211307 single base substitution C A intron_variant ESAD-UK 6 152211388 152211388 single base substitution T G intron_variant ESAD-UK 6 152211803 152211803 single base substitution T A intron_variant ESAD-UK 6 152211940 152211940 single base substitution T C intron_variant ESAD-UK 6 152211949 152211949 single base substitution T C intron_variant ESAD-UK 6 152212102 152212102 single base substitution T G intron_variant ESAD-UK 6 152212282 152212282 single base substitution T G intron_variant ESAD-UK 6 152212476 152212476 single base substitution T G intron_variant ESAD-UK 6 152213372 152213372 single base substitution C A intron_variant ESAD-UK 6 152213520 152213520 single base substitution G A intron_variant ESAD-UK 6 152213858 152213858 single base substitution G T intron_variant ESAD-UK 6 152214304 152214304 single base substitution C T intron_variant ESAD-UK 6 152215373 152215373 deletion of <=200bp G - intron_variant ESAD-UK 6 152216036 152216036 deletion of <=200bp T - intron_variant ESAD-UK 6 152216259 152216259 insertion of <=200bp - T intron_variant ESAD-UK 6 152216779 152216779 single base substitution G A intron_variant ESAD-UK 6 152217143 152217143 single base substitution T G intron_variant ESAD-UK 6 152217173 152217173 single base substitution T G intron_variant ESAD-UK 6 152217214 152217214 single base substitution G A intron_variant ESAD-UK 6 152217283 152217283 single base substitution T C intron_variant ESAD-UK 6 152218196 152218196 single base substitution A G intron_variant ESAD-UK 6 152218694 152218694 single base substitution A C intron_variant ESAD-UK 6 152218905 152218905 single base substitution T G intron_variant ESAD-UK 6 152218969 152218969 single base substitution T A intron_variant ESAD-UK 6 152219046 152219046 single base substitution T A intron_variant ESAD-UK 6 152219400 152219400 single base substitution T A intron_variant ESAD-UK 6 152221853 152221853 single base substitution G C intron_variant ESAD-UK 6 152222404 152222404 single base substitution C A intron_variant ESAD-UK 6 152222696 152222696 single base substitution A T intron_variant ESAD-UK 6 152223125 152223125 single base substitution T G intron_variant ESAD-UK 6 152223394 152223394 single base substitution T G intron_variant ESAD-UK 6 152223740 152223740 single base substitution T G intron_variant ESAD-UK 6 152224292 152224292 single base substitution T G intron_variant ESAD-UK 6 152224706 152224706 single base substitution T C intron_variant ESAD-UK 6 152224968 152224968 single base substitution A C intron_variant ESAD-UK 6 152225290 152225290 single base substitution T G intron_variant ESAD-UK 6 152225896 152225896 single base substitution A C intron_variant ESAD-UK 6 152226686 152226686 single base substitution T G intron_variant ESAD-UK 6 152226715 152226715 single base substitution A G intron_variant ESAD-UK 6 152228667 152228667 single base substitution G A intron_variant ESAD-UK 6 152228738 152228738 single base substitution G A intron_variant ESAD-UK 6 152229130 152229130 single base substitution A G intron_variant ESAD-UK 6 152229377 152229377 deletion of <=200bp T - intron_variant ESAD-UK 6 152229965 152229965 single base substitution T C intron_variant ESAD-UK 6 152229993 152229993 single base substitution G A intron_variant ESAD-UK 6 152230161 152230161 single base substitution T A intron_variant ESAD-UK 6 152230268 152230268 single base substitution T A intron_variant ESAD-UK 6 152230344 152230344 single base substitution C A intron_variant ESAD-UK 6 152230671 152230671 single base substitution T C intron_variant ESAD-UK 6 152231396 152231396 single base substitution A T intron_variant ESAD-UK 6 152231534 152231534 single base substitution C A intron_variant ESAD-UK 6 152232370 152232370 single base substitution G A intron_variant ESAD-UK 6 152232612 152232612 single base substitution T C intron_variant ESAD-UK 6 152232818 152232818 single base substitution C T intron_variant ESAD-UK 6 152233292 152233292 single base substitution A G intron_variant ESAD-UK 6 152233333 152233333 single base substitution T C intron_variant ESAD-UK 6 152233860 152233860 single base substitution G A intron_variant ESAD-UK 6 152234042 152234042 single base substitution C T intron_variant ESAD-UK 6 152234814 152234814 single base substitution G A intron_variant ESAD-UK 6 152235275 152235275 single base substitution C A intron_variant ESAD-UK 6 152236782 152236782 single base substitution T G intron_variant ESAD-UK 6 152237636 152237636 single base substitution C A intron_variant ESAD-UK 6 152237851 152237851 single base substitution A C intron_variant ESAD-UK 6 152237861 152237861 single base substitution T G intron_variant ESAD-UK 6 152237888 152237888 single base substitution A C intron_variant ESAD-UK 6 152237888 152237888 single base substitution A G intron_variant ESAD-UK 6 152237888 152237888 single base substitution A T intron_variant ESAD-UK 6 152239041 152239041 single base substitution C T intron_variant ESAD-UK 6 152239225 152239225 single base substitution T C intron_variant ESAD-UK 6 152239410 152239410 single base substitution A C intron_variant ESAD-UK 6 152239516 152239516 single base substitution G T intron_variant ESAD-UK 6 152239537 152239537 single base substitution G T intron_variant ESAD-UK 6 152240136 152240136 single base substitution A G intron_variant ESAD-UK 6 152240544 152240544 single base substitution A C intron_variant ESAD-UK 6 152240952 152240952 single base substitution A C intron_variant ESAD-UK 6 152241428 152241428 single base substitution C G intron_variant ESAD-UK 6 152242061 152242061 single base substitution T G intron_variant ESAD-UK 6 152242213 152242213 single base substitution T A intron_variant ESAD-UK 6 152242528 152242528 single base substitution A T intron_variant ESAD-UK 6 152244980 152244980 single base substitution C T intron_variant ESAD-UK 6 152245185 152245185 single base substitution T G intron_variant ESAD-UK 6 152245538 152245538 deletion of <=200bp T - intron_variant ESAD-UK 6 152245737 152245737 single base substitution C T intron_variant ESAD-UK 6 152245907 152245907 deletion of <=200bp T - intron_variant ESAD-UK 6 152246017 152246017 single base substitution C A intron_variant ESAD-UK 6 152247239 152247239 single base substitution T C intron_variant ESAD-UK 6 152247417 152247417 single base substitution T G intron_variant ESAD-UK 6 152247474 152247474 single base substitution C A intron_variant ESAD-UK 6 152248481 152248481 single base substitution T G intron_variant ESAD-UK 6 152248585 152248585 single base substitution T C intron_variant ESAD-UK 6 152248748 152248748 single base substitution C T intron_variant ESAD-UK 6 152249094 152249094 single base substitution A C intron_variant ESAD-UK 6 152249138 152249138 single base substitution C T intron_variant ESAD-UK 6 152249410 152249410 single base substitution T C intron_variant ESAD-UK 6 152249665 152249665 insertion of <=200bp - A intron_variant ESAD-UK 6 152249957 152249957 single base substitution G A intron_variant ESAD-UK 6 152250144 152250144 single base substitution T C intron_variant ESAD-UK 6 152250453 152250453 single base substitution C T intron_variant ESAD-UK 6 152251054 152251054 single base substitution C T intron_variant ESAD-UK 6 152251182 152251182 single base substitution G A intron_variant ESAD-UK 6 152251410 152251410 single base substitution G A intron_variant ESAD-UK 6 152251788 152251788 single base substitution A C intron_variant ESAD-UK 6 152252019 152252019 single base substitution A C intron_variant ESAD-UK 6 152252301 152252301 single base substitution G T intron_variant ESAD-UK 6 152255712 152255712 single base substitution A C intron_variant ESAD-UK 6 152256422 152256422 single base substitution A C intron_variant ESAD-UK 6 152256713 152256713 single base substitution A G intron_variant ESAD-UK 6 152257717 152257717 single base substitution G T intron_variant ESAD-UK 6 152257722 152257722 single base substitution T G intron_variant ESAD-UK 6 152258136 152258136 single base substitution A C intron_variant ESAD-UK 6 152258441 152258441 single base substitution A C intron_variant ESAD-UK 6 152258691 152258691 single base substitution C T intron_variant ESAD-UK 6 152259053 152259053 single base substitution T G intron_variant ESAD-UK 6 152259061 152259061 single base substitution A C intron_variant ESAD-UK 6 152260077 152260077 single base substitution A G intron_variant ESAD-UK 6 152260261 152260261 single base substitution T A intron_variant ESAD-UK 6 152260333 152260333 single base substitution T G intron_variant ESAD-UK 6 152260333 152260333 single base substitution T G upstream_gene_variant ESAD-UK 6 152260507 152260507 single base substitution A G intron_variant ESAD-UK 6 152260507 152260507 single base substitution A G upstream_gene_variant ESAD-UK 6 152261362 152261362 single base substitution C A intron_variant ESAD-UK 6 152261362 152261362 single base substitution C A upstream_gene_variant ESAD-UK 6 152262434 152262434 single base substitution G A intron_variant ESAD-UK 6 152262434 152262434 single base substitution G A upstream_gene_variant ESAD-UK 6 152262741 152262741 single base substitution C A intron_variant ESAD-UK 6 152262741 152262741 single base substitution C A upstream_gene_variant ESAD-UK 6 152263000 152263000 single base substitution A C intron_variant ESAD-UK 6 152263000 152263000 single base substitution A C upstream_gene_variant ESAD-UK 6 152263440 152263440 single base substitution G T intron_variant ESAD-UK 6 152263440 152263440 single base substitution G T upstream_gene_variant ESAD-UK 6 152263691 152263691 single base substitution T C intron_variant ESAD-UK 6 152263691 152263691 single base substitution T C upstream_gene_variant ESAD-UK 6 152263861 152263861 single base substitution G A intron_variant ESAD-UK 6 152263861 152263861 single base substitution G A upstream_gene_variant ESAD-UK 6 152264067 152264067 insertion of <=200bp - T intron_variant ESAD-UK 6 152264067 152264067 insertion of <=200bp - T upstream_gene_variant ESAD-UK 6 152264722 152264722 single base substitution T C intron_variant ESAD-UK 6 152264722 152264722 single base substitution T C upstream_gene_variant ESAD-UK 6 152264921 152264921 single base substitution C G intron_variant ESAD-UK 6 152264921 152264921 single base substitution C G upstream_gene_variant ESAD-UK 6 152265008 152265008 single base substitution T G intron_variant ESAD-UK 6 152265008 152265008 single base substitution T G upstream_gene_variant ESAD-UK 6 152265013 152265013 single base substitution A T intron_variant ESAD-UK 6 152265013 152265013 single base substitution A T upstream_gene_variant ESAD-UK 6 152265536 152265536 single base substitution A C exon_variant ESAD-UK 6 152265536 152265536 single base substitution A C intron_variant ESAD-UK 6 152265536 152265536 single base substitution A C missense_variant E157A 470A>C ESAD-UK 6 152265536 152265536 single base substitution A C missense_variant E330A 989A>C ESAD-UK 6 152266087 152266087 single base substitution G A intron_variant ESAD-UK 6 152266707 152266707 single base substitution T G intron_variant ESAD-UK 6 152266721 152266721 single base substitution C T intron_variant ESAD-UK 6 152266769 152266769 single base substitution A G intron_variant ESAD-UK 6 152267146 152267146 single base substitution C T intron_variant ESAD-UK 6 152268381 152268381 single base substitution G T intron_variant ESAD-UK 6 152268691 152268691 single base substitution T G intron_variant ESAD-UK 6 152268864 152268864 single base substitution C G intron_variant ESAD-UK 6 152269470 152269470 single base substitution G C intron_variant ESAD-UK 6 152269914 152269914 single base substitution G C intron_variant ESAD-UK 6 152270082 152270082 single base substitution A C intron_variant ESAD-UK 6 152270334 152270334 single base substitution G T intron_variant ESAD-UK 6 152271479 152271479 single base substitution T G intron_variant ESAD-UK 6 152273652 152273652 single base substitution G A intron_variant ESAD-UK 6 152273654 152273654 single base substitution C G intron_variant ESAD-UK 6 152273713 152273713 single base substitution A C intron_variant ESAD-UK 6 152274307 152274307 single base substitution T C intron_variant ESAD-UK 6 152274381 152274381 single base substitution T C intron_variant ESAD-UK 6 152274633 152274633 single base substitution G A intron_variant ESAD-UK 6 152275557 152275557 single base substitution A C intron_variant ESAD-UK 6 152275607 152275607 deletion of <=200bp T - intron_variant ESAD-UK 6 152276167 152276167 single base substitution A T intron_variant ESAD-UK 6 152276488 152276488 single base substitution T C intron_variant ESAD-UK 6 152277043 152277043 single base substitution G C intron_variant ESAD-UK 6 152277087 152277087 single base substitution T G intron_variant ESAD-UK 6 152277179 152277179 single base substitution G T intron_variant ESAD-UK 6 152277451 152277451 single base substitution G T intron_variant ESAD-UK 6 152277460 152277460 single base substitution T G intron_variant ESAD-UK 6 152277466 152277466 single base substitution G T intron_variant ESAD-UK 6 152277590 152277590 single base substitution T C intron_variant ESAD-UK 6 152278264 152278264 single base substitution G T intron_variant ESAD-UK 6 152278362 152278362 single base substitution C T intron_variant ESAD-UK 6 152278451 152278451 single base substitution A C intron_variant ESAD-UK 6 152278906 152278906 single base substitution G C intron_variant ESAD-UK 6 152279114 152279114 single base substitution G T intron_variant ESAD-UK 6 152279329 152279329 single base substitution A G intron_variant ESAD-UK 6 152280609 152280609 single base substitution C T intron_variant ESAD-UK 6 152280619 152280619 single base substitution T C intron_variant ESAD-UK 6 152280624 152280624 single base substitution C T intron_variant ESAD-UK 6 152280798 152280798 single base substitution A C intron_variant ESAD-UK 6 152280908 152280908 single base substitution A G intron_variant ESAD-UK 6 152280940 152280940 single base substitution T G intron_variant ESAD-UK 6 152281241 152281241 single base substitution T G intron_variant ESAD-UK 6 152281410 152281410 single base substitution G T intron_variant ESAD-UK 6 152281424 152281424 single base substitution A C intron_variant ESAD-UK 6 152281894 152281894 single base substitution A G intron_variant ESAD-UK 6 152282162 152282162 single base substitution A C intron_variant ESAD-UK 6 152282584 152282584 single base substitution T G intron_variant ESAD-UK 6 152282622 152282622 single base substitution A C intron_variant ESAD-UK 6 152282947 152282947 single base substitution A G intron_variant ESAD-UK 6 152282971 152282971 single base substitution T A intron_variant ESAD-UK 6 152283596 152283596 single base substitution G C intron_variant ESAD-UK 6 152284879 152284879 single base substitution T C intron_variant ESAD-UK 6 152284892 152284892 single base substitution C A intron_variant ESAD-UK 6 152284937 152284937 single base substitution T C intron_variant ESAD-UK 6 152285404 152285405 deletion of <=200bp TT - intron_variant ESAD-UK 6 152285422 152285422 single base substitution A T intron_variant ESAD-UK 6 152285910 152285910 single base substitution G A intron_variant ESAD-UK 6 152285975 152285975 single base substitution C A intron_variant ESAD-UK 6 152286452 152286452 single base substitution T G intron_variant ESAD-UK 6 152286495 152286495 single base substitution C A intron_variant ESAD-UK 6 152286863 152286863 single base substitution G A intron_variant ESAD-UK 6 152289381 152289381 single base substitution C T intron_variant ESAD-UK 6 152289858 152289858 single base substitution C G intron_variant ESAD-UK 6 152289978 152289978 single base substitution G T intron_variant ESAD-UK 6 152290016 152290016 single base substitution G A intron_variant ESAD-UK 6 152290146 152290146 single base substitution T G intron_variant ESAD-UK 6 152290462 152290462 single base substitution T G intron_variant ESAD-UK 6 152290893 152290893 insertion of <=200bp - T intron_variant ESAD-UK 6 152291265 152291265 single base substitution C T intron_variant ESAD-UK 6 152291326 152291326 single base substitution C A intron_variant ESAD-UK 6 152292154 152292154 single base substitution G A intron_variant ESAD-UK 6 152292557 152292557 single base substitution T G intron_variant ESAD-UK 6 152292839 152292839 single base substitution C A intron_variant ESAD-UK 6 152293184 152293184 single base substitution T C intron_variant ESAD-UK 6 152293184 152293184 single base substitution T G intron_variant ESAD-UK 6 152293294 152293294 deletion of <=200bp A - intron_variant ESAD-UK 6 152294033 152294033 single base substitution T G intron_variant ESAD-UK 6 152294700 152294700 single base substitution G A intron_variant ESAD-UK 6 152294890 152294890 single base substitution A C intron_variant ESAD-UK 6 152295075 152295075 single base substitution T A intron_variant ESAD-UK 6 152295210 152295210 single base substitution G T intron_variant ESAD-UK 6 152295702 152295702 single base substitution A C intron_variant ESAD-UK 6 152296645 152296645 single base substitution C T intron_variant ESAD-UK 6 152297958 152297958 single base substitution A G intron_variant ESAD-UK 6 152298079 152298079 single base substitution A T intron_variant ESAD-UK 6 152298235 152298235 single base substitution A G intron_variant ESAD-UK 6 152299194 152299194 single base substitution C A intron_variant ESAD-UK 6 152299488 152299488 single base substitution A C intron_variant ESAD-UK 6 152299510 152299510 single base substitution A G intron_variant ESAD-UK 6 152299608 152299608 single base substitution G T intron_variant ESAD-UK 6 152300164 152300164 single base substitution A C intron_variant ESAD-UK 6 152300498 152300498 single base substitution T C intron_variant ESAD-UK 6 152300682 152300682 single base substitution T C intron_variant ESAD-UK 6 152300887 152300887 insertion of <=200bp - T intron_variant ESAD-UK 6 152300894 152300894 single base substitution T A intron_variant ESAD-UK 6 152301144 152301144 insertion of <=200bp - T intron_variant ESAD-UK 6 152301402 152301402 single base substitution G T intron_variant ESAD-UK 6 152301441 152301441 single base substitution G C intron_variant ESAD-UK 6 152301561 152301561 single base substitution G T intron_variant ESAD-UK 6 152301867 152301867 single base substitution C T intron_variant ESAD-UK 6 152302006 152302006 single base substitution T C intron_variant ESAD-UK 6 152302099 152302099 single base substitution A C intron_variant ESAD-UK 6 152302356 152302356 single base substitution C G intron_variant ESAD-UK 6 152302891 152302891 single base substitution A C intron_variant ESAD-UK 6 152303257 152303257 single base substitution T C intron_variant ESAD-UK 6 152303683 152303683 single base substitution G C intron_variant ESAD-UK 6 152303880 152303880 single base substitution C G intron_variant ESAD-UK 6 152303895 152303895 deletion of <=200bp A - intron_variant ESAD-UK 6 152303902 152303902 single base substitution T A intron_variant ESAD-UK 6 152305424 152305424 deletion of <=200bp A - downstream_gene_variant ESAD-UK 6 152305424 152305424 deletion of <=200bp A - intron_variant ESAD-UK 6 152305594 152305594 single base substitution A T downstream_gene_variant ESAD-UK 6 152305594 152305594 single base substitution A T intron_variant ESAD-UK 6 152306004 152306004 single base substitution G C downstream_gene_variant ESAD-UK 6 152306004 152306004 single base substitution G C intron_variant ESAD-UK 6 152306018 152306018 single base substitution A G downstream_gene_variant ESAD-UK 6 152306018 152306018 single base substitution A G intron_variant ESAD-UK 6 152307290 152307290 single base substitution T A downstream_gene_variant ESAD-UK 6 152307290 152307290 single base substitution T A intron_variant ESAD-UK 6 152307349 152307349 single base substitution T G downstream_gene_variant ESAD-UK 6 152307349 152307349 single base substitution T G intron_variant ESAD-UK 6 152308639 152308639 single base substitution C T downstream_gene_variant ESAD-UK 6 152308639 152308639 single base substitution C T intron_variant ESAD-UK 6 152310057 152310057 single base substitution T G downstream_gene_variant ESAD-UK 6 152310057 152310057 single base substitution T G intron_variant ESAD-UK 6 152310067 152310067 insertion of <=200bp - T downstream_gene_variant ESAD-UK 6 152310067 152310067 insertion of <=200bp - T intron_variant ESAD-UK 6 152310615 152310615 single base substitution A C intron_variant ESAD-UK 6 152310781 152310781 single base substitution T G intron_variant ESAD-UK 6 152311427 152311427 single base substitution G C intron_variant ESAD-UK 6 152311571 152311571 single base substitution A T intron_variant ESAD-UK 6 152312107 152312107 single base substitution A G intron_variant ESAD-UK 6 152312140 152312140 single base substitution G A intron_variant ESAD-UK 6 152312463 152312463 single base substitution G A intron_variant ESAD-UK 6 152313507 152313507 single base substitution C T intron_variant ESAD-UK 6 152313892 152313892 deletion of <=200bp T - intron_variant ESAD-UK 6 152313948 152313948 single base substitution A T intron_variant ESAD-UK 6 152314130 152314130 single base substitution A C intron_variant ESAD-UK 6 152314881 152314881 single base substitution C G intron_variant ESAD-UK 6 152315397 152315397 single base substitution T C intron_variant ESAD-UK 6 152315398 152315398 single base substitution G T intron_variant ESAD-UK 6 152315432 152315432 single base substitution A C intron_variant ESAD-UK 6 152315523 152315523 single base substitution C A intron_variant ESAD-UK 6 152315622 152315622 single base substitution A G intron_variant ESAD-UK 6 152315789 152315789 single base substitution A C intron_variant ESAD-UK 6 152317180 152317180 single base substitution C T intron_variant ESAD-UK 6 152317236 152317236 single base substitution A C intron_variant ESAD-UK 6 152317272 152317272 single base substitution T G intron_variant ESAD-UK 6 152317407 152317407 single base substitution C T intron_variant ESAD-UK 6 152317436 152317436 single base substitution T C intron_variant ESAD-UK 6 152317542 152317542 single base substitution T C intron_variant ESAD-UK 6 152317764 152317764 single base substitution C T intron_variant ESAD-UK 6 152317870 152317870 single base substitution G C intron_variant ESAD-UK 6 152317885 152317885 single base substitution T A intron_variant ESAD-UK 6 152317899 152317899 single base substitution A C intron_variant ESAD-UK 6 152318313 152318313 single base substitution G T intron_variant ESAD-UK 6 152318546 152318546 single base substitution G T intron_variant ESAD-UK 6 152319045 152319045 single base substitution A G intron_variant ESAD-UK 6 152319346 152319346 single base substitution A C intron_variant ESAD-UK 6 152320777 152320777 single base substitution G C intron_variant ESAD-UK 6 152321072 152321072 single base substitution G T intron_variant ESAD-UK 6 152322002 152322002 single base substitution T G intron_variant ESAD-UK 6 152322286 152322286 single base substitution G T intron_variant ESAD-UK 6 152322499 152322499 single base substitution C T intron_variant ESAD-UK 6 152322819 152322819 single base substitution T C intron_variant ESAD-UK 6 152323148 152323148 single base substitution T G intron_variant ESAD-UK 6 152323196 152323196 single base substitution C T intron_variant ESAD-UK 6 152323447 152323447 single base substitution T C intron_variant ESAD-UK 6 152324256 152324256 single base substitution G A intron_variant ESAD-UK 6 152324442 152324442 single base substitution T G intron_variant ESAD-UK 6 152324456 152324456 single base substitution G T intron_variant ESAD-UK 6 152324606 152324606 single base substitution T A intron_variant ESAD-UK 6 152326387 152326387 single base substitution T G intron_variant ESAD-UK 6 152326899 152326899 single base substitution T G intron_variant ESAD-UK 6 152326921 152326921 single base substitution C G intron_variant ESAD-UK 6 152327252 152327252 single base substitution T G intron_variant ESAD-UK 6 152327597 152327597 single base substitution T G intron_variant ESAD-UK 6 152327743 152327743 single base substitution T C intron_variant ESAD-UK 6 152328099 152328099 single base substitution C A intron_variant ESAD-UK 6 152328218 152328218 single base substitution T C intron_variant ESAD-UK 6 152328308 152328308 single base substitution A G intron_variant ESAD-UK 6 152328859 152328859 single base substitution G A intron_variant ESAD-UK 6 152328955 152328955 single base substitution T G intron_variant ESAD-UK 6 152329067 152329067 single base substitution C A intron_variant ESAD-UK 6 152329402 152329402 single base substitution A G intron_variant ESAD-UK 6 152329556 152329556 single base substitution G T intron_variant ESAD-UK 6 152329705 152329705 single base substitution T G intron_variant ESAD-UK 6 152329948 152329948 single base substitution A G intron_variant ESAD-UK 6 152329948 152329948 single base substitution A T intron_variant ESAD-UK 6 152330482 152330482 single base substitution A C intron_variant ESAD-UK 6 152330636 152330636 single base substitution G T intron_variant ESAD-UK 6 152331687 152331687 single base substitution T G intron_variant ESAD-UK 6 152332484 152332484 single base substitution A C intron_variant ESAD-UK 6 152332507 152332507 single base substitution C A intron_variant ESAD-UK 6 152332584 152332584 single base substitution C T intron_variant ESAD-UK 6 152332717 152332717 single base substitution C A intron_variant ESAD-UK 6 152332896 152332896 single base substitution A G intron_variant ESAD-UK 6 152332896 152332896 single base substitution A G missense_variant K228R 683A>G ESAD-UK 6 152332896 152332896 single base substitution A G missense_variant K289R 866A>G ESAD-UK 6 152332896 152332896 single base substitution A G missense_variant K401R 1202A>G ESAD-UK 6 152332896 152332896 single base substitution A G missense_variant K74R 221A>G ESAD-UK 6 152333541 152333541 single base substitution G A intron_variant ESAD-UK 6 152333751 152333751 single base substitution C A intron_variant ESAD-UK 6 152333999 152333999 single base substitution T A intron_variant ESAD-UK 6 152334064 152334064 single base substitution A C intron_variant ESAD-UK 6 152334221 152334221 single base substitution G C intron_variant ESAD-UK 6 152334464 152334464 single base substitution T G intron_variant ESAD-UK 6 152336014 152336014 single base substitution T C intron_variant ESAD-UK 6 152336180 152336180 single base substitution T C intron_variant ESAD-UK 6 152336360 152336360 single base substitution T G intron_variant ESAD-UK 6 152336449 152336449 single base substitution T G intron_variant ESAD-UK 6 152336670 152336670 single base substitution C T intron_variant ESAD-UK 6 152336687 152336687 single base substitution T G intron_variant ESAD-UK 6 152336806 152336806 single base substitution A C intron_variant ESAD-UK 6 152336928 152336928 single base substitution T A intron_variant ESAD-UK 6 152337268 152337268 single base substitution T C intron_variant ESAD-UK 6 152337820 152337820 single base substitution T C intron_variant ESAD-UK 6 152337882 152337882 single base substitution T G intron_variant ESAD-UK 6 152337900 152337900 single base substitution A C intron_variant ESAD-UK 6 152338922 152338922 single base substitution G T intron_variant ESAD-UK 6 152339422 152339422 single base substitution T C intron_variant ESAD-UK 6 152339834 152339834 single base substitution G T intron_variant ESAD-UK 6 152340000 152340000 single base substitution T G intron_variant ESAD-UK 6 152340098 152340098 single base substitution T C intron_variant ESAD-UK 6 152340332 152340332 single base substitution G T intron_variant ESAD-UK 6 152340466 152340466 single base substitution A C intron_variant ESAD-UK 6 152340478 152340478 single base substitution G A intron_variant ESAD-UK 6 152340830 152340830 single base substitution A G intron_variant ESAD-UK 6 152340908 152340908 single base substitution C G intron_variant ESAD-UK 6 152340926 152340926 single base substitution A T intron_variant ESAD-UK 6 152341411 152341411 single base substitution A G intron_variant ESAD-UK 6 152341608 152341608 single base substitution C T intron_variant ESAD-UK 6 152342518 152342518 single base substitution A C intron_variant ESAD-UK 6 152343185 152343185 single base substitution C A intron_variant ESAD-UK 6 152343225 152343225 single base substitution C T intron_variant ESAD-UK 6 152344062 152344062 single base substitution A C intron_variant ESAD-UK 6 152345159 152345159 single base substitution C A intron_variant ESAD-UK 6 152345219 152345219 single base substitution T C intron_variant ESAD-UK 6 152346249 152346249 single base substitution T A intron_variant ESAD-UK 6 152346439 152346439 single base substitution A T intron_variant ESAD-UK 6 152346635 152346635 single base substitution T G intron_variant ESAD-UK 6 152346935 152346935 single base substitution C A intron_variant ESAD-UK 6 152346983 152346983 single base substitution T C intron_variant ESAD-UK 6 152347248 152347248 single base substitution G C intron_variant ESAD-UK 6 152347514 152347514 single base substitution T C intron_variant ESAD-UK 6 152347615 152347615 single base substitution T C intron_variant ESAD-UK 6 152348184 152348184 single base substitution T C intron_variant ESAD-UK 6 152348313 152348313 single base substitution C A intron_variant ESAD-UK 6 152348662 152348662 single base substitution T A intron_variant ESAD-UK 6 152349184 152349184 single base substitution C G intron_variant ESAD-UK 6 152349250 152349250 single base substitution G T intron_variant ESAD-UK 6 152349484 152349484 single base substitution C T intron_variant ESAD-UK 6 152350058 152350058 single base substitution G A intron_variant ESAD-UK 6 152351139 152351139 single base substitution A C intron_variant ESAD-UK 6 152352485 152352485 single base substitution G T intron_variant ESAD-UK 6 152352729 152352729 single base substitution A C intron_variant ESAD-UK 6 152352765 152352765 single base substitution A G intron_variant ESAD-UK 6 152352873 152352873 single base substitution G A intron_variant ESAD-UK 6 152353785 152353785 single base substitution C A intron_variant ESAD-UK 6 152355039 152355039 single base substitution A T intron_variant ESAD-UK 6 152355055 152355055 single base substitution A C intron_variant ESAD-UK 6 152356503 152356503 single base substitution T G intron_variant ESAD-UK 6 152356668 152356668 single base substitution G A intron_variant ESAD-UK 6 152357021 152357021 single base substitution A G intron_variant ESAD-UK 6 152357074 152357074 single base substitution A C intron_variant ESAD-UK 6 152357084 152357084 single base substitution T G intron_variant ESAD-UK 6 152358321 152358321 single base substitution G A intron_variant ESAD-UK 6 152359026 152359026 single base substitution T C intron_variant ESAD-UK 6 152359055 152359055 single base substitution A G intron_variant ESAD-UK 6 152359062 152359062 single base substitution T G intron_variant ESAD-UK 6 152359360 152359360 single base substitution G T intron_variant ESAD-UK 6 152360515 152360515 single base substitution G T intron_variant ESAD-UK 6 152360663 152360663 single base substitution C T intron_variant ESAD-UK 6 152360759 152360759 single base substitution G A intron_variant ESAD-UK 6 152360844 152360844 single base substitution C T intron_variant ESAD-UK 6 152361120 152361120 single base substitution C A intron_variant ESAD-UK 6 152361739 152361739 single base substitution A C intron_variant ESAD-UK 6 152362081 152362081 single base substitution A T intron_variant ESAD-UK 6 152362362 152362362 single base substitution T G intron_variant ESAD-UK 6 152362454 152362454 single base substitution T A intron_variant ESAD-UK 6 152362454 152362454 single base substitution T C intron_variant ESAD-UK 6 152362495 152362495 single base substitution T G intron_variant ESAD-UK 6 152363104 152363104 single base substitution T G intron_variant ESAD-UK 6 152363232 152363232 single base substitution T G intron_variant ESAD-UK 6 152363342 152363342 single base substitution A G intron_variant ESAD-UK 6 152363952 152363952 single base substitution C A intron_variant ESAD-UK 6 152365384 152365384 single base substitution C A intron_variant ESAD-UK 6 152365707 152365707 single base substitution G A intron_variant ESAD-UK 6 152366091 152366091 single base substitution A G intron_variant ESAD-UK 6 152366478 152366478 single base substitution A C intron_variant ESAD-UK 6 152367101 152367101 single base substitution T G intron_variant ESAD-UK 6 152367266 152367266 single base substitution T A intron_variant ESAD-UK 6 152367531 152367531 single base substitution T G intron_variant ESAD-UK 6 152367860 152367860 single base substitution A G intron_variant ESAD-UK 6 152367860 152367860 single base substitution A T intron_variant ESAD-UK 6 152367956 152367956 single base substitution C A intron_variant ESAD-UK 6 152368029 152368029 single base substitution A G intron_variant ESAD-UK 6 152370171 152370171 single base substitution G A intron_variant ESAD-UK 6 152371043 152371043 single base substitution C G intron_variant ESAD-UK 6 152371425 152371425 single base substitution A C intron_variant ESAD-UK 6 152371527 152371527 single base substitution G T intron_variant ESAD-UK 6 152371530 152371530 single base substitution T G intron_variant ESAD-UK 6 152371588 152371588 single base substitution A C intron_variant ESAD-UK 6 152371671 152371671 single base substitution T C intron_variant ESAD-UK 6 152371688 152371688 single base substitution G C intron_variant ESAD-UK 6 152371695 152371695 single base substitution T G intron_variant ESAD-UK 6 152372155 152372155 single base substitution T A intron_variant ESAD-UK 6 152372959 152372959 single base substitution T A intron_variant ESAD-UK 6 152373436 152373436 single base substitution A T intron_variant ESAD-UK 6 152373750 152373750 single base substitution A C intron_variant ESAD-UK 6 152373985 152373985 single base substitution C A intron_variant ESAD-UK 6 152374290 152374290 single base substitution G A intron_variant ESAD-UK 6 152374954 152374954 single base substitution A G intron_variant ESAD-UK 6 152375065 152375065 single base substitution T G intron_variant ESAD-UK 6 152375348 152375348 single base substitution T C intron_variant ESAD-UK 6 152376578 152376578 single base substitution A C intron_variant ESAD-UK 6 152376910 152376910 single base substitution C T intron_variant ESAD-UK 6 152377141 152377141 single base substitution A C intron_variant ESAD-UK 6 152377147 152377147 single base substitution A C intron_variant ESAD-UK 6 152377609 152377609 single base substitution T G intron_variant ESAD-UK 6 152378507 152378507 single base substitution T G intron_variant ESAD-UK 6 152378538 152378538 single base substitution A T intron_variant ESAD-UK 6 152378555 152378555 single base substitution A C intron_variant ESAD-UK 6 152378615 152378615 single base substitution T C intron_variant ESAD-UK 6 152379399 152379399 single base substitution C T intron_variant ESAD-UK 6 152379970 152379970 single base substitution A T intron_variant ESAD-UK 6 152380090 152380090 single base substitution T G intron_variant ESAD-UK 6 152380128 152380128 deletion of <=200bp T - intron_variant ESAD-UK 6 152380214 152380214 single base substitution T C intron_variant ESAD-UK 6 152380664 152380664 single base substitution A C intron_variant ESAD-UK 6 152380981 152380981 single base substitution A G intron_variant ESAD-UK 6 152382430 152382430 single base substitution C A downstream_gene_variant ESAD-UK 6 152382430 152382430 single base substitution C A intron_variant ESAD-UK 6 152382499 152382499 single base substitution T G downstream_gene_variant ESAD-UK 6 152382499 152382499 single base substitution T G intron_variant ESAD-UK 6 152383188 152383188 single base substitution T G downstream_gene_variant ESAD-UK 6 152383188 152383188 single base substitution T G intron_variant ESAD-UK 6 152383271 152383271 single base substitution C T downstream_gene_variant ESAD-UK 6 152383271 152383271 single base substitution C T intron_variant ESAD-UK 6 152383612 152383612 single base substitution C T downstream_gene_variant ESAD-UK 6 152383612 152383612 single base substitution C T intron_variant ESAD-UK 6 152384387 152384387 single base substitution G A downstream_gene_variant ESAD-UK 6 152384387 152384387 single base substitution G A intron_variant ESAD-UK 6 152384425 152384425 single base substitution T C downstream_gene_variant ESAD-UK 6 152384425 152384425 single base substitution T C intron_variant ESAD-UK 6 152384995 152384995 single base substitution C A downstream_gene_variant ESAD-UK 6 152384995 152384995 single base substitution C A intron_variant ESAD-UK 6 152385119 152385119 single base substitution T C downstream_gene_variant ESAD-UK 6 152385119 152385119 single base substitution T C intron_variant ESAD-UK 6 152385377 152385377 single base substitution A C downstream_gene_variant ESAD-UK 6 152385377 152385377 single base substitution A C intron_variant ESAD-UK 6 152386948 152386948 single base substitution A T downstream_gene_variant ESAD-UK 6 152386948 152386948 single base substitution A T intron_variant ESAD-UK 6 152386980 152386980 single base substitution A C downstream_gene_variant ESAD-UK 6 152386980 152386980 single base substitution A C intron_variant ESAD-UK 6 152387566 152387566 single base substitution A T intron_variant ESAD-UK 6 152387695 152387695 single base substitution T G intron_variant ESAD-UK 6 152387810 152387810 single base substitution C A intron_variant ESAD-UK 6 152387904 152387904 single base substitution T C intron_variant ESAD-UK 6 152388442 152388442 single base substitution T A intron_variant ESAD-UK 6 152388830 152388830 single base substitution C T intron_variant ESAD-UK 6 152390546 152390546 deletion of <=200bp T - intron_variant ESAD-UK 6 152391269 152391269 single base substitution A C intron_variant ESAD-UK 6 152391616 152391616 single base substitution G T intron_variant ESAD-UK 6 152392001 152392001 single base substitution T G intron_variant ESAD-UK 6 152392389 152392389 single base substitution T C intron_variant ESAD-UK 6 152392995 152392995 deletion of <=200bp T - intron_variant ESAD-UK 6 152393163 152393163 single base substitution T A intron_variant ESAD-UK 6 152393379 152393379 single base substitution G T intron_variant ESAD-UK 6 152393389 152393389 single base substitution C G intron_variant ESAD-UK 6 152393982 152393982 single base substitution C T intron_variant ESAD-UK 6 152394168 152394168 single base substitution T C intron_variant ESAD-UK 6 152394496 152394496 single base substitution A G intron_variant ESAD-UK 6 152394911 152394911 single base substitution G A intron_variant ESAD-UK 6 152395565 152395565 single base substitution T A intron_variant ESAD-UK 6 152395957 152395957 single base substitution G A intron_variant ESAD-UK 6 152396321 152396321 single base substitution G A intron_variant ESAD-UK 6 152396717 152396717 single base substitution T A intron_variant ESAD-UK 6 152396961 152396961 single base substitution T C intron_variant ESAD-UK 6 152397015 152397015 single base substitution T G intron_variant ESAD-UK 6 152397895 152397895 single base substitution C G intron_variant ESAD-UK 6 152398086 152398086 single base substitution T G intron_variant ESAD-UK 6 152398125 152398125 single base substitution A C intron_variant ESAD-UK 6 152398154 152398154 single base substitution A C intron_variant ESAD-UK 6 152398294 152398294 single base substitution T G intron_variant ESAD-UK 6 152398909 152398909 single base substitution T C intron_variant ESAD-UK 6 152399970 152399970 single base substitution T G intron_variant ESAD-UK 6 152400346 152400346 single base substitution C A intron_variant ESAD-UK 6 152401050 152401050 single base substitution A C intron_variant ESAD-UK 6 152401301 152401301 single base substitution A C intron_variant ESAD-UK 6 152401325 152401325 single base substitution T A intron_variant ESAD-UK 6 152401667 152401667 single base substitution C A intron_variant ESAD-UK 6 152401711 152401711 single base substitution T A intron_variant ESAD-UK 6 152401712 152401712 single base substitution A T intron_variant ESAD-UK 6 152401890 152401890 single base substitution T G intron_variant ESAD-UK 6 152401897 152401897 single base substitution C G intron_variant ESAD-UK 6 152401970 152401970 single base substitution A G intron_variant ESAD-UK 6 152402044 152402044 single base substitution A C intron_variant ESAD-UK 6 152402134 152402134 single base substitution C A intron_variant ESAD-UK 6 152402451 152402451 single base substitution G A intron_variant ESAD-UK 6 152403065 152403065 single base substitution A C intron_variant ESAD-UK 6 152403220 152403220 single base substitution A C intron_variant ESAD-UK 6 152404372 152404372 single base substitution A C intron_variant ESAD-UK 6 152404666 152404666 single base substitution G C intron_variant ESAD-UK 6 152405176 152405176 single base substitution G A intron_variant ESAD-UK 6 152406445 152406445 insertion of <=200bp - A intron_variant ESAD-UK 6 152406843 152406843 single base substitution A T intron_variant ESAD-UK 6 152407818 152407818 single base substitution G T intron_variant ESAD-UK 6 152408392 152408392 single base substitution A C intron_variant ESAD-UK 6 152408438 152408438 single base substitution G A intron_variant ESAD-UK 6 152408609 152408609 single base substitution T A intron_variant ESAD-UK 6 152409687 152409687 single base substitution C T intron_variant ESAD-UK 6 152409813 152409813 single base substitution G A intron_variant ESAD-UK 6 152410371 152410371 single base substitution A T intron_variant ESAD-UK 6 152410655 152410655 single base substitution C G intron_variant ESAD-UK 6 152411140 152411140 single base substitution C G intron_variant ESAD-UK 6 152411658 152411658 single base substitution G T intron_variant ESAD-UK 6 152413816 152413816 single base substitution T C intron_variant ESAD-UK 6 152414187 152414187 single base substitution G A intron_variant ESAD-UK 6 152414302 152414302 single base substitution C A intron_variant ESAD-UK 6 152414713 152414713 single base substitution C A intron_variant ESAD-UK 6 152415075 152415075 single base substitution G T intron_variant ESAD-UK 6 152416121 152416121 single base substitution G A intron_variant ESAD-UK 6 152416385 152416385 single base substitution C G intron_variant ESAD-UK 6 152416871 152416871 single base substitution T G intron_variant ESAD-UK 6 152418902 152418902 single base substitution C T intron_variant ESAD-UK 6 152419294 152419294 single base substitution G A intron_variant ESAD-UK 6 152419424 152419424 single base substitution G A intron_variant ESAD-UK 6 152419905 152419905 single base substitution A T intron_variant ESAD-UK 6 152419905 152419905 single base substitution A T missense_variant K270M 809A>T ESAD-UK 6 152419905 152419905 single base substitution A T missense_variant K419M 1256A>T ESAD-UK 6 152419905 152419905 single base substitution A T missense_variant K531M 1592A>T ESAD-UK 6 152422842 152422842 single base substitution A T 3_prime_UTR_variant ESAD-UK 6 152422842 152422842 single base substitution A T downstream_gene_variant ESAD-UK 6 152422842 152422842 single base substitution A T intron_variant ESAD-UK 6 152424933 152424933 single base substitution C A downstream_gene_variant ESAD-UK 6 152424933 152424933 single base substitution C A intron_variant ESAD-UK 6 152425688 152425688 single base substitution T C downstream_gene_variant ESAD-UK 6 152425688 152425688 single base substitution T C intron_variant ESAD-UK 6 152426141 152426141 single base substitution A G downstream_gene_variant ESAD-UK 6 152426141 152426141 single base substitution A G intron_variant ESAD-UK 6 152428379 152428379 single base substitution T G downstream_gene_variant ESAD-UK 6 152428379 152428379 single base substitution T G intron_variant ESAD-UK 6 152429178 152429178 single base substitution C G downstream_gene_variant ESAD-UK 6 152429178 152429178 single base substitution C G intron_variant ESAD-UK 6 152429470 152429470 single base substitution G C intron_variant ESAD-UK 6 152430520 152430520 single base substitution G A intron_variant ESAD-UK 6 152430831 152430831 single base substitution C G intron_variant ESAD-UK 6 152432251 152432251 single base substitution T C intron_variant ESAD-UK 6 152432345 152432345 single base substitution A T intron_variant ESAD-UK 6 152435671 152435671 single base substitution A G intron_variant ESAD-UK 6 152436121 152436121 single base substitution T G intron_variant ESAD-UK 6 152436366 152436366 single base substitution T C intron_variant ESAD-UK 6 152436877 152436877 single base substitution C G intron_variant ESAD-UK 6 152437147 152437147 single base substitution C A intron_variant ESAD-UK 6 152437298 152437298 single base substitution T G intron_variant ESAD-UK 6 152437736 152437736 deletion of <=200bp T - intron_variant ESAD-UK 6 152439375 152439375 single base substitution C T intron_variant ESAD-UK 6 152440302 152440302 single base substitution A C intron_variant ESAD-UK 6 152442084 152442084 single base substitution A C intron_variant ESAD-UK 6 152442991 152442991 deletion of <=200bp A - intron_variant ESAD-UK 6 152443030 152443030 single base substitution A C intron_variant ESAD-UK 6 152448745 152448745 single base substitution G A 3_prime_UTR_variant ESAD-UK 6 152449150 152449150 single base substitution G C 3_prime_UTR_variant ESAD-UK 6 152449519 152449519 single base substitution T G 3_prime_UTR_variant ESAD-UK 6 152450332 152450332 single base substitution G A 3_prime_UTR_variant ESAD-UK 6 152450356 152450356 single base substitution C T 3_prime_UTR_variant ESAD-UK 6 152450964 152450964 single base substitution T A downstream_gene_variant ESAD-UK 6 152454000 152454000 single base substitution G T downstream_gene_variant ESAD-UK 6 152454245 152454245 single base substitution G T downstream_gene_variant ESAD-UK 6 152454458 152454458 single base substitution G A downstream_gene_variant ESCA-CN 6 152174665 152174665 single base substitution A C intron_variant ESCA-CN 6 152382311 152382311 single base substitution G T downstream_gene_variant ESCA-CN 6 152382311 152382311 single base substitution G T intron_variant ESCA-CN 6 152382325 152382325 single base substitution A G downstream_gene_variant ESCA-CN 6 152382325 152382325 single base substitution A G intron_variant ESCA-CN 6 152421908 152421908 deletion of <=200bp A - 3_prime_UTR_variant ESCA-CN 6 152421908 152421908 deletion of <=200bp A - downstream_gene_variant ESCA-CN 6 152421908 152421908 deletion of <=200bp A - intron_variant ESCA-CN 6 152422484 152422484 single base substitution A C 3_prime_UTR_variant ESCA-CN 6 152422484 152422484 single base substitution A C downstream_gene_variant ESCA-CN 6 152422484 152422484 single base substitution A C intron_variant GBM-US 6 152163775 152163775 single base substitution G T 5_prime_UTR_variant GBM-US 6 152163775 152163775 single base substitution G T intron_variant GBM-US 6 152163775 152163775 single base substitution G T missense_variant A166S 496G>T GBM-US 6 152265483 152265483 single base substitution C T exon_variant GBM-US 6 152265483 152265483 single base substitution C T intron_variant GBM-US 6 152265483 152265483 single base substitution C T synonymous_variant A139A 417C>T GBM-US 6 152265483 152265483 single base substitution C T synonymous_variant A312A 936C>T KIRC-US 6 152382174 152382174 single base substitution G T synonymous_variant L101L 303G>T KIRC-US 6 152382174 152382174 single base substitution G T synonymous_variant L167L 501G>T KIRC-US 6 152382174 152382174 single base substitution G T synonymous_variant L255L 765G>T KIRC-US 6 152382174 152382174 single base substitution G T synonymous_variant L316L 948G>T KIRC-US 6 152382174 152382174 single base substitution G T synonymous_variant L428L 1284G>T KIRC-US 6 152443659 152443659 single base substitution T A intron_variant KIRP-US 6 152201893 152201893 single base substitution A G intron_variant KIRP-US 6 152201893 152201893 single base substitution A G synonymous_variant G249G 747A>G KIRP-US 6 152201893 152201893 single base substitution A G synonymous_variant G34G 102A>G KIRP-US 6 152201893 152201893 single base substitution A G synonymous_variant G76G 228A>G KIRP-US 6 152453307 152453307 single base substitution C A downstream_gene_variant LAML-KR 6 152129077 152129077 single base substitution T C downstream_gene_variant LAML-KR 6 152129077 152129077 single base substitution T C synonymous_variant S10S 30T>C LAML-KR 6 152129077 152129077 single base substitution T C upstream_gene_variant LAML-KR 6 152141676 152141676 single base substitution G A intron_variant LAML-KR 6 152169126 152169126 single base substitution G T intron_variant LAML-KR 6 152204049 152204049 single base substitution T A intron_variant LAML-KR 6 152220392 152220392 single base substitution A C intron_variant LAML-KR 6 152252966 152252966 single base substitution T C intron_variant LAML-KR 6 152253429 152253429 single base substitution G A intron_variant LAML-KR 6 152316494 152316494 single base substitution G A intron_variant LAML-KR 6 152378743 152378743 single base substitution C T intron_variant LAML-KR 6 152433224 152433224 single base substitution T C intron_variant LICA-FR 6 151986697 151986697 single base substitution G A intron_variant LICA-FR 6 152008453 152008453 single base substitution A C intron_variant LICA-FR 6 152008453 152008453 single base substitution A C upstream_gene_variant LICA-FR 6 152045373 152045373 single base substitution C G intron_variant LICA-FR 6 152074455 152074455 insertion of <=200bp - T intron_variant LICA-FR 6 152098152 152098152 single base substitution G T intron_variant LICA-FR 6 152098153 152098153 single base substitution G T intron_variant LICA-FR 6 152099246 152099246 single base substitution A G intron_variant LICA-FR 6 152107811 152107811 insertion of <=200bp - TT intron_variant LICA-FR 6 152119227 152119227 single base substitution A T intron_variant LICA-FR 6 152129352 152129352 single base substitution G A downstream_gene_variant LICA-FR 6 152129352 152129352 single base substitution G A exon_variant LICA-FR 6 152129352 152129352 single base substitution G A missense_variant S102N 305G>A LICA-FR 6 152129352 152129352 single base substitution G A upstream_gene_variant LICA-FR 6 152194387 152194387 single base substitution T G intron_variant LICA-FR 6 152213725 152213725 deletion of <=200bp T - intron_variant LICA-FR 6 152216140 152216140 single base substitution T C intron_variant LICA-FR 6 152227871 152227871 single base substitution A T intron_variant LICA-FR 6 152246774 152246774 single base substitution A G intron_variant LICA-FR 6 152281347 152281347 single base substitution C G intron_variant LICA-FR 6 152299099 152299101 deletion of <=200bp AAA - intron_variant LICA-FR 6 152322923 152322923 single base substitution C G intron_variant LICA-FR 6 152337708 152337708 single base substitution A C intron_variant LICA-FR 6 152346401 152346401 single base substitution C T intron_variant LICA-FR 6 152354660 152354660 single base substitution C T intron_variant LICA-FR 6 152354838 152354838 single base substitution A C intron_variant LICA-FR 6 152362745 152362745 single base substitution A G intron_variant LICA-FR 6 152367991 152367991 single base substitution A G intron_variant LICA-FR 6 152378494 152378494 single base substitution A G intron_variant LICA-FR 6 152440511 152440511 single base substitution C A intron_variant LICA-FR 6 152441184 152441184 single base substitution T G intron_variant LIHC-US 6 152129176 152129176 single base substitution C A downstream_gene_variant LIHC-US 6 152129176 152129176 single base substitution C A stop_gained Y43* 129C>A LIHC-US 6 152129176 152129176 single base substitution C A upstream_gene_variant LIHC-US 6 152265434 152265434 single base substitution T C exon_variant LIHC-US 6 152265434 152265434 single base substitution T C intron_variant LIHC-US 6 152265434 152265434 single base substitution T C missense_variant L123P 368T>C LIHC-US 6 152265434 152265434 single base substitution T C missense_variant L296P 887T>C LIHC-US 6 152382169 152382169 single base substitution A G missense_variant M100V 298A>G LIHC-US 6 152382169 152382169 single base substitution A G missense_variant M166V 496A>G LIHC-US 6 152382169 152382169 single base substitution A G missense_variant M254V 760A>G LIHC-US 6 152382169 152382169 single base substitution A G missense_variant M315V 943A>G LIHC-US 6 152382169 152382169 single base substitution A G missense_variant M427V 1279A>G LIHC-US 6 152415519 152415519 single base substitution G A intron_variant LIHC-US 6 152415519 152415519 single base substitution G A splice_acceptor_variant LINC-JP 6 151979445 151979445 single base substitution C T intron_variant LINC-JP 6 152002091 152002091 single base substitution G A intron_variant LINC-JP 6 152007224 152007224 single base substitution A T intron_variant LINC-JP 6 152007224 152007224 single base substitution A T upstream_gene_variant LINC-JP 6 152020482 152020482 single base substitution A G intron_variant LINC-JP 6 152048988 152048988 single base substitution C T intron_variant LINC-JP 6 152053344 152053344 single base substitution A G intron_variant LINC-JP 6 152053631 152053631 single base substitution T C intron_variant LINC-JP 6 152073604 152073604 deletion of <=200bp T - intron_variant LINC-JP 6 152077469 152077469 single base substitution A G intron_variant LINC-JP 6 152106573 152106573 single base substitution A G intron_variant LINC-JP 6 152109682 152109682 single base substitution T G intron_variant LINC-JP 6 152119017 152119017 single base substitution G T intron_variant LINC-JP 6 152129396 152129396 single base substitution C T downstream_gene_variant LINC-JP 6 152129396 152129396 single base substitution C T exon_variant LINC-JP 6 152129396 152129396 single base substitution C T synonymous_variant L117L 349C>T LINC-JP 6 152129396 152129396 single base substitution C T upstream_gene_variant LINC-JP 6 152134104 152134104 deletion of <=200bp A - downstream_gene_variant LINC-JP 6 152134104 152134104 deletion of <=200bp A - intron_variant LINC-JP 6 152137738 152137738 single base substitution G T intron_variant LINC-JP 6 152148690 152148690 single base substitution T A intron_variant LINC-JP 6 152151696 152151696 single base substitution A G intron_variant LINC-JP 6 152156947 152156947 single base substitution T A intron_variant LINC-JP 6 152156949 152156949 single base substitution A C intron_variant LINC-JP 6 152172448 152172448 single base substitution G A intron_variant LINC-JP 6 152209785 152209785 single base substitution C T intron_variant LINC-JP 6 152235139 152235145 deletion of <=200bp CTCCTTG - intron_variant LINC-JP 6 152237401 152237401 single base substitution A G intron_variant LINC-JP 6 152249867 152249867 single base substitution G T intron_variant LINC-JP 6 152255203 152255203 single base substitution G A intron_variant LINC-JP 6 152263968 152263968 single base substitution C A intron_variant LINC-JP 6 152263968 152263968 single base substitution C A upstream_gene_variant LINC-JP 6 152265921 152265921 single base substitution C G intron_variant LINC-JP 6 152272926 152272926 single base substitution A T intron_variant LINC-JP 6 152273913 152273913 single base substitution T G intron_variant LINC-JP 6 152288728 152288728 single base substitution A G intron_variant LINC-JP 6 152299115 152299115 single base substitution C A intron_variant LINC-JP 6 152303488 152303488 single base substitution G T intron_variant LINC-JP 6 152311920 152311920 deletion of <=200bp T - intron_variant LINC-JP 6 152313198 152313198 single base substitution T G intron_variant LINC-JP 6 152324509 152324509 single base substitution A G intron_variant LINC-JP 6 152333484 152333484 deletion of <=200bp T - intron_variant LINC-JP 6 152343680 152343680 single base substitution G A intron_variant LINC-JP 6 152348178 152348178 single base substitution T G intron_variant LINC-JP 6 152351990 152351990 single base substitution G A intron_variant LINC-JP 6 152380264 152380264 single base substitution T C intron_variant LINC-JP 6 152382159 152382159 single base substitution G T missense_variant E162D 486G>T LINC-JP 6 152382159 152382159 single base substitution G T missense_variant E250D 750G>T LINC-JP 6 152382159 152382159 single base substitution G T missense_variant E311D 933G>T LINC-JP 6 152382159 152382159 single base substitution G T missense_variant E423D 1269G>T LINC-JP 6 152382159 152382159 single base substitution G T missense_variant E96D 288G>T LINC-JP 6 152437777 152437777 single base substitution C T intron_variant LIRI-JP 6 151972970 151972970 single base substitution A C upstream_gene_variant LIRI-JP 6 151973808 151973808 single base substitution G C upstream_gene_variant LIRI-JP 6 151975074 151975074 single base substitution C T upstream_gene_variant LIRI-JP 6 151975171 151975171 single base substitution G T upstream_gene_variant LIRI-JP 6 151975846 151975846 single base substitution C G upstream_gene_variant LIRI-JP 6 151976182 151976182 single base substitution A G upstream_gene_variant LIRI-JP 6 151977652 151977662 deletion of <=200bp TTGTTCTGTGC - upstream_gene_variant LIRI-JP 6 151977911 151977911 single base substitution T A intron_variant LIRI-JP 6 151978831 151978831 single base substitution G A intron_variant LIRI-JP 6 151980224 151980224 single base substitution C T intron_variant LIRI-JP 6 151980676 151980676 single base substitution A G intron_variant LIRI-JP 6 151981776 151981776 single base substitution T C intron_variant LIRI-JP 6 151982880 151982880 single base substitution C T intron_variant LIRI-JP 6 151986638 151986638 single base substitution T C intron_variant LIRI-JP 6 151987399 151987399 single base substitution G A intron_variant LIRI-JP 6 151990094 151990094 single base substitution T G intron_variant LIRI-JP 6 151990105 151990105 single base substitution T C intron_variant LIRI-JP 6 151990169 151990169 single base substitution T G intron_variant LIRI-JP 6 151991545 151991545 single base substitution C G intron_variant LIRI-JP 6 151991766 151991766 single base substitution T C intron_variant LIRI-JP 6 151993303 151993303 single base substitution A G intron_variant LIRI-JP 6 151994270 151994277 deletion of <=200bp AATTTTGT - intron_variant LIRI-JP 6 151994884 151994884 single base substitution G T intron_variant LIRI-JP 6 151997392 151997392 insertion of <=200bp - T intron_variant LIRI-JP 6 151997689 151997689 single base substitution C A intron_variant LIRI-JP 6 151998806 151998806 single base substitution C T intron_variant LIRI-JP 6 152000352 152000352 single base substitution T C intron_variant LIRI-JP 6 152003077 152003077 single base substitution G A intron_variant LIRI-JP 6 152003402 152003402 single base substitution A G intron_variant LIRI-JP 6 152006557 152006557 single base substitution C G intron_variant LIRI-JP 6 152008325 152008325 single base substitution T G intron_variant LIRI-JP 6 152008325 152008325 single base substitution T G upstream_gene_variant LIRI-JP 6 152009939 152009939 single base substitution T A intron_variant LIRI-JP 6 152009939 152009939 single base substitution T A upstream_gene_variant LIRI-JP 6 152012586 152012586 single base substitution G T intron_variant LIRI-JP 6 152015221 152015221 single base substitution A T intron_variant LIRI-JP 6 152015273 152015273 single base substitution A T intron_variant LIRI-JP 6 152015661 152015661 single base substitution G T intron_variant LIRI-JP 6 152016859 152016859 single base substitution A G intron_variant LIRI-JP 6 152017334 152017334 single base substitution G A intron_variant LIRI-JP 6 152020478 152020478 single base substitution T G intron_variant LIRI-JP 6 152020627 152020627 single base substitution C T intron_variant LIRI-JP 6 152021514 152021514 single base substitution T C intron_variant LIRI-JP 6 152025312 152025312 single base substitution T C intron_variant LIRI-JP 6 152026302 152026302 single base substitution A G intron_variant LIRI-JP 6 152028237 152028237 single base substitution A G intron_variant LIRI-JP 6 152028310 152028310 single base substitution A G intron_variant LIRI-JP 6 152028317 152028317 single base substitution C A intron_variant LIRI-JP 6 152031525 152031525 single base substitution A T intron_variant LIRI-JP 6 152032748 152032748 single base substitution G A intron_variant LIRI-JP 6 152034179 152034179 single base substitution C T intron_variant LIRI-JP 6 152034884 152034884 single base substitution A G intron_variant LIRI-JP 6 152035194 152035194 single base substitution C T intron_variant LIRI-JP 6 152036117 152036117 single base substitution A G intron_variant LIRI-JP 6 152038198 152038198 single base substitution C T intron_variant LIRI-JP 6 152038218 152038218 single base substitution C T intron_variant LIRI-JP 6 152038302 152038302 single base substitution T A intron_variant LIRI-JP 6 152039898 152039898 deletion of <=200bp A - intron_variant LIRI-JP 6 152041044 152041044 deletion of <=200bp T - intron_variant LIRI-JP 6 152041360 152041360 single base substitution A C intron_variant LIRI-JP 6 152041813 152041813 single base substitution C G intron_variant LIRI-JP 6 152046438 152046438 single base substitution T C intron_variant LIRI-JP 6 152049009 152049009 single base substitution C T intron_variant LIRI-JP 6 152049510 152049510 single base substitution T G intron_variant LIRI-JP 6 152049615 152049615 single base substitution A C intron_variant LIRI-JP 6 152055047 152055047 single base substitution G T intron_variant LIRI-JP 6 152058943 152058943 single base substitution G A intron_variant LIRI-JP 6 152060124 152060124 single base substitution T C intron_variant LIRI-JP 6 152060331 152060331 single base substitution C G intron_variant LIRI-JP 6 152061153 152061153 single base substitution C A intron_variant LIRI-JP 6 152065674 152065674 single base substitution T G intron_variant LIRI-JP 6 152067105 152067105 single base substitution A G intron_variant LIRI-JP 6 152067919 152067919 single base substitution G C intron_variant LIRI-JP 6 152070321 152070321 insertion of <=200bp - A intron_variant LIRI-JP 6 152072026 152072026 single base substitution G T intron_variant LIRI-JP 6 152077499 152077499 single base substitution C G intron_variant LIRI-JP 6 152078405 152078405 single base substitution A G intron_variant LIRI-JP 6 152078921 152078921 single base substitution A G intron_variant LIRI-JP 6 152080524 152080524 insertion of <=200bp - CTTCA intron_variant LIRI-JP 6 152081866 152081866 single base substitution C T intron_variant LIRI-JP 6 152087876 152087876 single base substitution G A intron_variant LIRI-JP 6 152088782 152088782 single base substitution A G intron_variant LIRI-JP 6 152089214 152089214 single base substitution G A intron_variant LIRI-JP 6 152089237 152089237 single base substitution A G intron_variant LIRI-JP 6 152090493 152090493 single base substitution C T intron_variant LIRI-JP 6 152093874 152093874 single base substitution T C intron_variant LIRI-JP 6 152094932 152094932 single base substitution T C intron_variant LIRI-JP 6 152095321 152095321 single base substitution T C intron_variant LIRI-JP 6 152096454 152096454 single base substitution T A intron_variant LIRI-JP 6 152096736 152096736 single base substitution A G intron_variant LIRI-JP 6 152097500 152097500 single base substitution A T intron_variant LIRI-JP 6 152098129 152098129 single base substitution A G intron_variant LIRI-JP 6 152098763 152098763 single base substitution G A intron_variant LIRI-JP 6 152099623 152099623 single base substitution C G intron_variant LIRI-JP 6 152101543 152101543 single base substitution A T intron_variant LIRI-JP 6 152103238 152103238 single base substitution C A intron_variant LIRI-JP 6 152103368 152103368 single base substitution T C intron_variant LIRI-JP 6 152103641 152103641 single base substitution T C intron_variant LIRI-JP 6 152104100 152104100 single base substitution T C intron_variant LIRI-JP 6 152105090 152105090 single base substitution T G intron_variant LIRI-JP 6 152105469 152105469 single base substitution T G intron_variant LIRI-JP 6 152106682 152106682 single base substitution G T intron_variant LIRI-JP 6 152106730 152106730 single base substitution G A intron_variant LIRI-JP 6 152108314 152108314 single base substitution T G intron_variant LIRI-JP 6 152108996 152108996 single base substitution G T intron_variant LIRI-JP 6 152109500 152109500 single base substitution T C intron_variant LIRI-JP 6 152115075 152115075 single base substitution A G intron_variant LIRI-JP 6 152116472 152116472 single base substitution A G intron_variant LIRI-JP 6 152116602 152116602 single base substitution G A intron_variant LIRI-JP 6 152117142 152117142 single base substitution C A intron_variant LIRI-JP 6 152117169 152117169 single base substitution C T intron_variant LIRI-JP 6 152117420 152117420 single base substitution A G intron_variant LIRI-JP 6 152122359 152122359 single base substitution G T intron_variant LIRI-JP 6 152122359 152122359 single base substitution G T upstream_gene_variant LIRI-JP 6 152122825 152122825 single base substitution G T intron_variant LIRI-JP 6 152122825 152122825 single base substitution G T upstream_gene_variant LIRI-JP 6 152123711 152123712 deletion of <=200bp CT - intron_variant LIRI-JP 6 152123711 152123712 deletion of <=200bp CT - upstream_gene_variant LIRI-JP 6 152125095 152125095 single base substitution G A intron_variant LIRI-JP 6 152125095 152125095 single base substitution G A upstream_gene_variant LIRI-JP 6 152125961 152125961 single base substitution T A 5_prime_UTR_variant LIRI-JP 6 152125961 152125961 single base substitution T A intron_variant LIRI-JP 6 152125961 152125961 single base substitution T A upstream_gene_variant LIRI-JP 6 152128070 152128070 single base substitution C T intron_variant LIRI-JP 6 152128070 152128070 single base substitution C T upstream_gene_variant LIRI-JP 6 152134716 152134716 deletion of <=200bp A - downstream_gene_variant LIRI-JP 6 152134716 152134716 deletion of <=200bp A - intron_variant LIRI-JP 6 152135063 152135063 single base substitution A T downstream_gene_variant LIRI-JP 6 152135063 152135063 single base substitution A T intron_variant LIRI-JP 6 152135080 152135080 single base substitution A C downstream_gene_variant LIRI-JP 6 152135080 152135080 single base substitution A C intron_variant LIRI-JP 6 152136896 152136896 single base substitution G T downstream_gene_variant LIRI-JP 6 152136896 152136896 single base substitution G T intron_variant LIRI-JP 6 152137182 152137182 single base substitution A G downstream_gene_variant LIRI-JP 6 152137182 152137182 single base substitution A G intron_variant LIRI-JP 6 152137437 152137437 single base substitution G A intron_variant LIRI-JP 6 152138066 152138066 single base substitution T G intron_variant LIRI-JP 6 152139871 152139871 single base substitution T G intron_variant LIRI-JP 6 152140107 152140107 single base substitution A G intron_variant LIRI-JP 6 152143496 152143496 insertion of <=200bp - T intron_variant LIRI-JP 6 152146040 152146040 single base substitution A G intron_variant LIRI-JP 6 152146509 152146509 single base substitution A G intron_variant LIRI-JP 6 152148696 152148696 single base substitution A T intron_variant LIRI-JP 6 152153772 152153772 single base substitution G A intron_variant LIRI-JP 6 152154645 152154645 single base substitution T C intron_variant LIRI-JP 6 152156752 152156752 single base substitution T C intron_variant LIRI-JP 6 152156784 152156784 single base substitution G T intron_variant LIRI-JP 6 152158077 152158077 single base substitution G A intron_variant LIRI-JP 6 152158664 152158664 single base substitution A G intron_variant LIRI-JP 6 152159034 152159034 single base substitution G A intron_variant LIRI-JP 6 152160598 152160598 single base substitution A G intron_variant LIRI-JP 6 152161125 152161125 single base substitution A G intron_variant LIRI-JP 6 152161331 152161331 single base substitution C T intron_variant LIRI-JP 6 152164710 152164710 single base substitution T C intron_variant LIRI-JP 6 152164767 152164767 single base substitution G T intron_variant LIRI-JP 6 152164824 152164824 single base substitution A G intron_variant LIRI-JP 6 152166112 152166112 single base substitution A G intron_variant LIRI-JP 6 152166411 152166411 single base substitution A G intron_variant LIRI-JP 6 152167089 152167089 single base substitution G A intron_variant LIRI-JP 6 152167247 152167247 single base substitution G T intron_variant LIRI-JP 6 152169850 152169850 single base substitution C T intron_variant LIRI-JP 6 152172062 152172062 single base substitution G A intron_variant LIRI-JP 6 152173422 152173422 single base substitution T G intron_variant LIRI-JP 6 152174668 152174668 single base substitution C T intron_variant LIRI-JP 6 152175709 152175709 single base substitution C T intron_variant LIRI-JP 6 152176015 152176015 single base substitution A C intron_variant LIRI-JP 6 152176238 152176238 single base substitution G A intron_variant LIRI-JP 6 152176519 152176519 deletion of <=200bp C - intron_variant LIRI-JP 6 152177643 152177643 single base substitution T C intron_variant LIRI-JP 6 152177723 152177723 single base substitution A T intron_variant LIRI-JP 6 152177730 152177730 single base substitution T G intron_variant LIRI-JP 6 152178348 152178348 single base substitution A G intron_variant LIRI-JP 6 152179624 152179624 single base substitution C A intron_variant LIRI-JP 6 152180021 152180021 single base substitution C T intron_variant LIRI-JP 6 152180075 152180075 single base substitution G A intron_variant LIRI-JP 6 152180901 152180901 single base substitution A G intron_variant LIRI-JP 6 152180984 152180984 single base substitution T A intron_variant LIRI-JP 6 152182262 152182262 single base substitution G A intron_variant LIRI-JP 6 152184162 152184162 single base substitution C T intron_variant LIRI-JP 6 152184876 152184876 single base substitution C G intron_variant LIRI-JP 6 152184891 152184891 single base substitution A G intron_variant LIRI-JP 6 152186662 152186662 single base substitution A C intron_variant LIRI-JP 6 152187195 152187195 single base substitution G A intron_variant LIRI-JP 6 152187264 152187264 single base substitution A T intron_variant LIRI-JP 6 152189174 152189174 single base substitution A G intron_variant LIRI-JP 6 152189936 152189936 single base substitution A G intron_variant LIRI-JP 6 152190958 152190958 single base substitution A T intron_variant LIRI-JP 6 152193507 152193507 single base substitution A T intron_variant LIRI-JP 6 152193894 152193894 single base substitution A G intron_variant LIRI-JP 6 152196823 152196823 single base substitution A G intron_variant LIRI-JP 6 152196823 152196823 single base substitution A G upstream_gene_variant LIRI-JP 6 152197730 152197730 single base substitution C T intron_variant LIRI-JP 6 152197730 152197730 single base substitution C T upstream_gene_variant LIRI-JP 6 152198906 152198906 single base substitution T G intron_variant LIRI-JP 6 152198906 152198906 single base substitution T G upstream_gene_variant LIRI-JP 6 152198995 152198995 single base substitution A G intron_variant LIRI-JP 6 152198995 152198995 single base substitution A G upstream_gene_variant LIRI-JP 6 152199587 152199587 single base substitution T G intron_variant LIRI-JP 6 152199587 152199587 single base substitution T G upstream_gene_variant LIRI-JP 6 152201211 152201211 single base substitution G A intron_variant LIRI-JP 6 152201211 152201211 single base substitution G A upstream_gene_variant LIRI-JP 6 152201993 152201993 single base substitution A C intron_variant LIRI-JP 6 152202052 152202052 single base substitution A C intron_variant LIRI-JP 6 152202883 152202883 single base substitution T C intron_variant LIRI-JP 6 152202886 152202886 single base substitution C T intron_variant LIRI-JP 6 152203357 152203357 single base substitution G A intron_variant LIRI-JP 6 152205929 152205929 single base substitution A G intron_variant LIRI-JP 6 152208870 152208870 single base substitution G T intron_variant LIRI-JP 6 152210723 152210723 single base substitution A G intron_variant LIRI-JP 6 152210921 152210921 single base substitution G T intron_variant LIRI-JP 6 152211554 152211554 single base substitution G T intron_variant LIRI-JP 6 152211998 152211998 single base substitution T C intron_variant LIRI-JP 6 152213260 152213260 single base substitution C T intron_variant LIRI-JP 6 152215474 152215474 single base substitution G T intron_variant LIRI-JP 6 152216881 152216881 single base substitution T C intron_variant LIRI-JP 6 152217125 152217125 single base substitution A G intron_variant LIRI-JP 6 152218019 152218019 single base substitution A G intron_variant LIRI-JP 6 152218948 152218948 single base substitution T C intron_variant LIRI-JP 6 152219109 152219109 single base substitution A C intron_variant LIRI-JP 6 152222272 152222272 single base substitution G A intron_variant LIRI-JP 6 152223955 152223955 single base substitution G A intron_variant LIRI-JP 6 152228670 152228670 single base substitution A G intron_variant LIRI-JP 6 152228963 152228963 single base substitution A T intron_variant LIRI-JP 6 152229591 152229591 single base substitution T C intron_variant LIRI-JP 6 152229727 152229727 single base substitution T A intron_variant LIRI-JP 6 152229740 152229740 single base substitution G A intron_variant LIRI-JP 6 152232218 152232218 single base substitution C T intron_variant LIRI-JP 6 152232247 152232247 single base substitution T C intron_variant LIRI-JP 6 152232486 152232488 deletion of <=200bp ATA - intron_variant LIRI-JP 6 152232885 152232885 single base substitution C T intron_variant LIRI-JP 6 152232983 152232983 single base substitution A C intron_variant LIRI-JP 6 152235420 152235420 single base substitution G T intron_variant LIRI-JP 6 152236826 152236826 single base substitution G T intron_variant LIRI-JP 6 152238084 152238084 single base substitution T C intron_variant LIRI-JP 6 152241282 152241282 single base substitution A G intron_variant LIRI-JP 6 152241358 152241358 single base substitution A G intron_variant LIRI-JP 6 152241884 152241884 single base substitution G T intron_variant LIRI-JP 6 152244008 152244008 single base substitution A G intron_variant LIRI-JP 6 152248553 152248553 single base substitution A G intron_variant LIRI-JP 6 152252254 152252254 single base substitution T C intron_variant LIRI-JP 6 152254739 152254739 single base substitution C G intron_variant LIRI-JP 6 152255318 152255318 single base substitution A G intron_variant LIRI-JP 6 152257146 152257146 single base substitution G A intron_variant LIRI-JP 6 152258419 152258419 single base substitution T G intron_variant LIRI-JP 6 152261044 152261044 single base substitution A G intron_variant LIRI-JP 6 152261044 152261044 single base substitution A G upstream_gene_variant LIRI-JP 6 152261051 152261051 single base substitution A G intron_variant LIRI-JP 6 152261051 152261051 single base substitution A G upstream_gene_variant LIRI-JP 6 152261820 152261820 single base substitution G T intron_variant LIRI-JP 6 152261820 152261820 single base substitution G T upstream_gene_variant LIRI-JP 6 152261856 152261856 single base substitution A G intron_variant LIRI-JP 6 152261856 152261856 single base substitution A G upstream_gene_variant LIRI-JP 6 152263972 152263980 deletion of <=200bp CTTCATATA - intron_variant LIRI-JP 6 152263972 152263980 deletion of <=200bp CTTCATATA - upstream_gene_variant LIRI-JP 6 152265356 152265357 deletion of <=200bp AG - exon_variant LIRI-JP 6 152265356 152265357 deletion of <=200bp AG - frameshift_variant Q270 LIRI-JP 6 152265356 152265357 deletion of <=200bp AG - frameshift_variant Q97 LIRI-JP 6 152265356 152265357 deletion of <=200bp AG - intron_variant LIRI-JP 6 152266511 152266511 single base substitution A G intron_variant LIRI-JP 6 152266666 152266666 single base substitution A G intron_variant LIRI-JP 6 152269048 152269048 single base substitution C G intron_variant LIRI-JP 6 152269266 152269266 single base substitution T C intron_variant LIRI-JP 6 152271190 152271190 single base substitution A G intron_variant LIRI-JP 6 152272006 152272006 single base substitution A G intron_variant LIRI-JP 6 152273213 152273213 single base substitution C A intron_variant LIRI-JP 6 152274164 152274164 single base substitution A G intron_variant LIRI-JP 6 152275684 152275684 single base substitution A G intron_variant LIRI-JP 6 152276872 152276872 single base substitution A G intron_variant LIRI-JP 6 152280100 152280100 single base substitution A G intron_variant LIRI-JP 6 152280420 152280420 single base substitution T A intron_variant LIRI-JP 6 152281000 152281000 single base substitution A G intron_variant LIRI-JP 6 152286334 152286334 single base substitution T C intron_variant LIRI-JP 6 152287002 152287003 deletion of <=200bp AT - intron_variant LIRI-JP 6 152287483 152287483 single base substitution T G intron_variant LIRI-JP 6 152287657 152287657 single base substitution A G intron_variant LIRI-JP 6 152290654 152290654 single base substitution T G intron_variant LIRI-JP 6 152292162 152292162 single base substitution A G intron_variant LIRI-JP 6 152293040 152293040 single base substitution A G intron_variant LIRI-JP 6 152293520 152293520 single base substitution T C intron_variant LIRI-JP 6 152295288 152295288 single base substitution T C intron_variant LIRI-JP 6 152295477 152295477 single base substitution T C intron_variant LIRI-JP 6 152296453 152296453 single base substitution A G intron_variant LIRI-JP 6 152296627 152296627 single base substitution A G intron_variant LIRI-JP 6 152296795 152296795 single base substitution T C intron_variant LIRI-JP 6 152299382 152299382 single base substitution G T intron_variant LIRI-JP 6 152299629 152299629 single base substitution A G intron_variant LIRI-JP 6 152301651 152301651 single base substitution T A intron_variant LIRI-JP 6 152302874 152302874 single base substitution T C intron_variant LIRI-JP 6 152302921 152302921 single base substitution C T intron_variant LIRI-JP 6 152303327 152303327 single base substitution C A intron_variant LIRI-JP 6 152304003 152304003 single base substitution C G intron_variant LIRI-JP 6 152305127 152305127 single base substitution T A exon_variant LIRI-JP 6 152305127 152305127 single base substitution T A intron_variant LIRI-JP 6 152305562 152305562 single base substitution C T downstream_gene_variant LIRI-JP 6 152305562 152305562 single base substitution C T intron_variant LIRI-JP 6 152306591 152306591 single base substitution C T downstream_gene_variant LIRI-JP 6 152306591 152306591 single base substitution C T intron_variant LIRI-JP 6 152310363 152310363 single base substitution C T intron_variant LIRI-JP 6 152314814 152314814 single base substitution A C intron_variant LIRI-JP 6 152316107 152316107 single base substitution A G intron_variant LIRI-JP 6 152317760 152317760 single base substitution A G intron_variant LIRI-JP 6 152318368 152318368 single base substitution A G intron_variant LIRI-JP 6 152318595 152318595 single base substitution G C intron_variant LIRI-JP 6 152320759 152320759 single base substitution C T intron_variant LIRI-JP 6 152321255 152321255 single base substitution A G intron_variant LIRI-JP 6 152321772 152321772 single base substitution C G intron_variant LIRI-JP 6 152322800 152322800 single base substitution C G intron_variant LIRI-JP 6 152324412 152324412 single base substitution A T intron_variant LIRI-JP 6 152324517 152324520 deletion of <=200bp ATAC - intron_variant LIRI-JP 6 152325709 152325709 insertion of <=200bp - T intron_variant LIRI-JP 6 152326268 152326268 single base substitution A T intron_variant LIRI-JP 6 152326963 152326963 single base substitution G A intron_variant LIRI-JP 6 152327796 152327796 single base substitution T G intron_variant LIRI-JP 6 152330473 152330473 single base substitution A C intron_variant LIRI-JP 6 152331847 152331847 single base substitution A C intron_variant LIRI-JP 6 152332054 152332054 single base substitution C A intron_variant LIRI-JP 6 152332107 152332107 single base substitution A G intron_variant LIRI-JP 6 152332654 152332654 single base substitution T C intron_variant LIRI-JP 6 152337064 152337064 single base substitution G T intron_variant LIRI-JP 6 152337897 152337897 single base substitution C T intron_variant LIRI-JP 6 152338109 152338109 single base substitution A G intron_variant LIRI-JP 6 152340503 152340503 single base substitution T C intron_variant LIRI-JP 6 152340736 152340736 single base substitution C T intron_variant LIRI-JP 6 152344724 152344724 single base substitution A G intron_variant LIRI-JP 6 152345470 152345470 single base substitution T C intron_variant LIRI-JP 6 152345484 152345484 single base substitution T C intron_variant LIRI-JP 6 152345559 152345559 single base substitution A T intron_variant LIRI-JP 6 152345965 152345965 single base substitution A G intron_variant LIRI-JP 6 152346041 152346041 single base substitution A G intron_variant LIRI-JP 6 152346668 152346668 single base substitution A G intron_variant LIRI-JP 6 152347041 152347041 single base substitution A G intron_variant LIRI-JP 6 152347764 152347764 single base substitution G A intron_variant LIRI-JP 6 152348579 152348579 single base substitution T G intron_variant LIRI-JP 6 152351953 152351953 single base substitution A T intron_variant LIRI-JP 6 152357408 152357408 single base substitution T G intron_variant LIRI-JP 6 152359696 152359696 single base substitution A T intron_variant LIRI-JP 6 152359917 152359917 single base substitution C T intron_variant LIRI-JP 6 152360429 152360429 single base substitution G T intron_variant LIRI-JP 6 152367432 152367432 single base substitution T C intron_variant LIRI-JP 6 152371668 152371668 single base substitution A T intron_variant LIRI-JP 6 152371966 152371966 single base substitution A G intron_variant LIRI-JP 6 152372074 152372074 single base substitution C T intron_variant LIRI-JP 6 152372607 152372607 single base substitution A T intron_variant LIRI-JP 6 152373180 152373180 single base substitution A C intron_variant LIRI-JP 6 152375709 152375709 single base substitution C T intron_variant LIRI-JP 6 152379280 152379280 single base substitution A G intron_variant LIRI-JP 6 152382061 152382061 single base substitution T A intron_variant LIRI-JP 6 152384028 152384028 single base substitution A G downstream_gene_variant LIRI-JP 6 152384028 152384028 single base substitution A G intron_variant LIRI-JP 6 152390331 152390331 single base substitution G A intron_variant LIRI-JP 6 152393999 152393999 single base substitution T A intron_variant LIRI-JP 6 152394113 152394113 single base substitution A T intron_variant LIRI-JP 6 152394744 152394744 single base substitution T C intron_variant LIRI-JP 6 152395363 152395363 single base substitution T C intron_variant LIRI-JP 6 152399272 152399272 single base substitution G A intron_variant LIRI-JP 6 152403347 152403347 single base substitution A G intron_variant LIRI-JP 6 152405143 152405143 single base substitution A C intron_variant LIRI-JP 6 152406881 152406881 single base substitution A C intron_variant LIRI-JP 6 152407326 152407326 single base substitution C A intron_variant LIRI-JP 6 152408634 152408634 single base substitution A C intron_variant LIRI-JP 6 152413326 152413326 single base substitution A C intron_variant LIRI-JP 6 152414895 152414895 single base substitution A T intron_variant LIRI-JP 6 152415238 152415238 single base substitution G A intron_variant LIRI-JP 6 152416562 152416562 single base substitution G T intron_variant LIRI-JP 6 152416576 152416576 single base substitution G A intron_variant LIRI-JP 6 152421279 152421279 single base substitution C G 3_prime_UTR_variant LIRI-JP 6 152421279 152421279 single base substitution C G downstream_gene_variant LIRI-JP 6 152421279 152421279 single base substitution C G intron_variant LIRI-JP 6 152426208 152426208 single base substitution C G downstream_gene_variant LIRI-JP 6 152426208 152426208 single base substitution C G intron_variant LIRI-JP 6 152427198 152427198 single base substitution G A downstream_gene_variant LIRI-JP 6 152427198 152427198 single base substitution G A intron_variant LIRI-JP 6 152428247 152428247 single base substitution T G downstream_gene_variant LIRI-JP 6 152428247 152428247 single base substitution T G intron_variant LIRI-JP 6 152432849 152432849 single base substitution G A intron_variant LIRI-JP 6 152432947 152432947 single base substitution G A intron_variant LIRI-JP 6 152437017 152437017 single base substitution C A intron_variant LIRI-JP 6 152437279 152437279 single base substitution G C intron_variant LIRI-JP 6 152440157 152440157 single base substitution G A intron_variant LIRI-JP 6 152444803 152444803 single base substitution C A intron_variant LIRI-JP 6 152446155 152446155 single base substitution G T intron_variant LIRI-JP 6 152446466 152446466 single base substitution T C missense_variant W306R 916T>C LIRI-JP 6 152446762 152446762 single base substitution G A 3_prime_UTR_variant LIRI-JP 6 152447150 152447150 deletion of <=200bp A - 3_prime_UTR_variant LIRI-JP 6 152448587 152448587 single base substitution T C 3_prime_UTR_variant LIRI-JP 6 152453295 152453295 single base substitution G A downstream_gene_variant LUSC-KR 6 151973996 151973996 single base substitution G C upstream_gene_variant LUSC-KR 6 151977620 151977620 single base substitution C G upstream_gene_variant LUSC-KR 6 151978543 151978543 single base substitution A G intron_variant LUSC-KR 6 151981781 151981781 single base substitution G A intron_variant LUSC-KR 6 151982221 151982221 single base substitution C A intron_variant LUSC-KR 6 151982821 151982821 single base substitution C G intron_variant LUSC-KR 6 151983267 151983267 single base substitution A G intron_variant LUSC-KR 6 151986501 151986501 single base substitution C A intron_variant LUSC-KR 6 151989096 151989096 single base substitution T A intron_variant LUSC-KR 6 151989174 151989174 single base substitution A G intron_variant LUSC-KR 6 151989352 151989352 single base substitution G C intron_variant LUSC-KR 6 151990338 151990338 single base substitution G T intron_variant LUSC-KR 6 151991696 151991696 single base substitution G A intron_variant LUSC-KR 6 151992039 151992039 single base substitution G T intron_variant LUSC-KR 6 151995856 151995856 single base substitution C G intron_variant LUSC-KR 6 151996615 151996615 single base substitution C G intron_variant LUSC-KR 6 151997865 151997865 single base substitution C A intron_variant LUSC-KR 6 152001308 152001308 single base substitution G C intron_variant LUSC-KR 6 152007846 152007846 single base substitution A C intron_variant LUSC-KR 6 152007846 152007846 single base substitution A C upstream_gene_variant LUSC-KR 6 152010903 152010903 single base substitution A G intron_variant LUSC-KR 6 152010903 152010903 single base substitution A G upstream_gene_variant LUSC-KR 6 152011443 152011443 single base substitution G T intron_variant LUSC-KR 6 152011443 152011443 single base substitution G T upstream_gene_variant LUSC-KR 6 152011856 152011856 single base substitution T C intron_variant LUSC-KR 6 152012770 152012770 single base substitution C A intron_variant LUSC-KR 6 152015441 152015441 single base substitution G C intron_variant LUSC-KR 6 152015449 152015449 single base substitution G A intron_variant LUSC-KR 6 152016732 152016732 single base substitution C A intron_variant LUSC-KR 6 152019025 152019025 single base substitution G T intron_variant LUSC-KR 6 152021169 152021169 single base substitution C T intron_variant LUSC-KR 6 152022701 152022701 single base substitution T A intron_variant LUSC-KR 6 152023170 152023170 single base substitution C G intron_variant LUSC-KR 6 152025641 152025641 single base substitution C T intron_variant LUSC-KR 6 152026595 152026595 single base substitution G T intron_variant LUSC-KR 6 152034416 152034416 single base substitution A T intron_variant LUSC-KR 6 152035151 152035151 single base substitution T C intron_variant LUSC-KR 6 152035362 152035362 single base substitution G C intron_variant LUSC-KR 6 152035543 152035543 single base substitution A T intron_variant LUSC-KR 6 152035852 152035852 single base substitution G A intron_variant LUSC-KR 6 152035928 152035928 single base substitution T A intron_variant LUSC-KR 6 152036814 152036814 single base substitution C A intron_variant LUSC-KR 6 152038830 152038830 single base substitution C T intron_variant LUSC-KR 6 152040705 152040705 single base substitution C T intron_variant LUSC-KR 6 152041475 152041475 single base substitution T C intron_variant LUSC-KR 6 152041664 152041664 single base substitution G T intron_variant LUSC-KR 6 152043317 152043317 single base substitution C A intron_variant LUSC-KR 6 152044319 152044319 single base substitution G T intron_variant LUSC-KR 6 152044320 152044320 single base substitution G T intron_variant LUSC-KR 6 152048612 152048612 single base substitution C A intron_variant LUSC-KR 6 152048632 152048632 single base substitution T A intron_variant LUSC-KR 6 152049600 152049600 single base substitution C A intron_variant LUSC-KR 6 152051541 152051541 single base substitution G T intron_variant LUSC-KR 6 152051842 152051842 single base substitution T G intron_variant LUSC-KR 6 152057041 152057041 single base substitution T A intron_variant LUSC-KR 6 152058750 152058750 single base substitution A G intron_variant LUSC-KR 6 152058865 152058865 single base substitution G T intron_variant LUSC-KR 6 152058870 152058870 single base substitution A G intron_variant LUSC-KR 6 152061443 152061443 single base substitution G T intron_variant LUSC-KR 6 152062032 152062032 single base substitution C G intron_variant LUSC-KR 6 152062938 152062938 single base substitution G A intron_variant LUSC-KR 6 152064384 152064384 single base substitution G A intron_variant LUSC-KR 6 152065246 152065246 single base substitution C T intron_variant LUSC-KR 6 152065555 152065555 single base substitution G T intron_variant LUSC-KR 6 152068698 152068698 single base substitution C A intron_variant LUSC-KR 6 152069254 152069254 single base substitution T C intron_variant LUSC-KR 6 152069275 152069275 single base substitution T A intron_variant LUSC-KR 6 152071639 152071639 single base substitution G T intron_variant LUSC-KR 6 152075131 152075131 single base substitution C A intron_variant LUSC-KR 6 152075249 152075249 single base substitution A T intron_variant LUSC-KR 6 152076140 152076140 single base substitution A G intron_variant LUSC-KR 6 152078629 152078629 single base substitution G T intron_variant LUSC-KR 6 152079279 152079279 single base substitution A C intron_variant LUSC-KR 6 152085283 152085283 single base substitution C T intron_variant LUSC-KR 6 152086141 152086141 single base substitution T C intron_variant LUSC-KR 6 152095056 152095056 single base substitution G C intron_variant LUSC-KR 6 152095454 152095454 single base substitution G T intron_variant LUSC-KR 6 152096436 152096436 single base substitution C T intron_variant LUSC-KR 6 152097155 152097155 single base substitution G T intron_variant LUSC-KR 6 152100923 152100923 single base substitution T A intron_variant LUSC-KR 6 152101318 152101318 single base substitution A T intron_variant LUSC-KR 6 152101888 152101888 single base substitution A C intron_variant LUSC-KR 6 152105169 152105169 single base substitution A G intron_variant LUSC-KR 6 152105388 152105388 single base substitution G C intron_variant LUSC-KR 6 152111819 152111819 single base substitution T A intron_variant LUSC-KR 6 152117337 152117337 single base substitution T A intron_variant LUSC-KR 6 152121336 152121336 single base substitution T C intron_variant LUSC-KR 6 152121336 152121336 single base substitution T C upstream_gene_variant LUSC-KR 6 152121459 152121459 single base substitution A G intron_variant LUSC-KR 6 152121459 152121459 single base substitution A G upstream_gene_variant LUSC-KR 6 152124976 152124976 single base substitution G T intron_variant LUSC-KR 6 152124976 152124976 single base substitution G T upstream_gene_variant LUSC-KR 6 152125145 152125145 single base substitution C T intron_variant LUSC-KR 6 152125145 152125145 single base substitution C T upstream_gene_variant LUSC-KR 6 152125268 152125268 single base substitution G T intron_variant LUSC-KR 6 152125268 152125268 single base substitution G T upstream_gene_variant LUSC-KR 6 152125683 152125683 single base substitution G C 5_prime_UTR_variant LUSC-KR 6 152125683 152125683 single base substitution G C intron_variant LUSC-KR 6 152125683 152125683 single base substitution G C upstream_gene_variant LUSC-KR 6 152126303 152126303 single base substitution A T 5_prime_UTR_variant LUSC-KR 6 152126303 152126303 single base substitution A T intron_variant LUSC-KR 6 152126303 152126303 single base substitution A T upstream_gene_variant LUSC-KR 6 152126729 152126729 single base substitution C A 5_prime_UTR_variant LUSC-KR 6 152126729 152126729 single base substitution C A intron_variant LUSC-KR 6 152126729 152126729 single base substitution C A upstream_gene_variant LUSC-KR 6 152126824 152126824 single base substitution T G 5_prime_UTR_variant LUSC-KR 6 152126824 152126824 single base substitution T G intron_variant LUSC-KR 6 152126824 152126824 single base substitution T G upstream_gene_variant LUSC-KR 6 152128631 152128631 single base substitution C G 5_prime_UTR_variant LUSC-KR 6 152128631 152128631 single base substitution C G intron_variant LUSC-KR 6 152128631 152128631 single base substitution C G upstream_gene_variant LUSC-KR 6 152129265 152129265 single base substitution A G downstream_gene_variant LUSC-KR 6 152129265 152129265 single base substitution A G exon_variant LUSC-KR 6 152129265 152129265 single base substitution A G missense_variant Y73C 218A>G LUSC-KR 6 152129265 152129265 single base substitution A G upstream_gene_variant LUSC-KR 6 152129538 152129538 single base substitution G T downstream_gene_variant LUSC-KR 6 152129538 152129538 single base substitution G T intron_variant LUSC-KR 6 152129538 152129538 single base substitution G T upstream_gene_variant LUSC-KR 6 152130268 152130268 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 6 152130268 152130268 single base substitution A T downstream_gene_variant LUSC-KR 6 152130268 152130268 single base substitution A T intron_variant LUSC-KR 6 152130728 152130728 single base substitution C G downstream_gene_variant LUSC-KR 6 152130728 152130728 single base substitution C G intron_variant LUSC-KR 6 152135194 152135194 single base substitution C T downstream_gene_variant LUSC-KR 6 152135194 152135194 single base substitution C T intron_variant LUSC-KR 6 152135903 152135903 single base substitution A T downstream_gene_variant LUSC-KR 6 152135903 152135903 single base substitution A T intron_variant LUSC-KR 6 152137050 152137050 single base substitution T C downstream_gene_variant LUSC-KR 6 152137050 152137050 single base substitution T C intron_variant LUSC-KR 6 152138310 152138310 single base substitution C G intron_variant LUSC-KR 6 152138591 152138591 single base substitution C G intron_variant LUSC-KR 6 152139887 152139887 single base substitution C T intron_variant LUSC-KR 6 152140326 152140326 single base substitution G T intron_variant LUSC-KR 6 152140601 152140601 single base substitution G T intron_variant LUSC-KR 6 152140842 152140842 single base substitution G T intron_variant LUSC-KR 6 152140916 152140916 single base substitution A T intron_variant LUSC-KR 6 152146422 152146422 single base substitution T A intron_variant LUSC-KR 6 152146643 152146643 single base substitution C T intron_variant LUSC-KR 6 152147648 152147648 single base substitution G T intron_variant LUSC-KR 6 152147913 152147913 single base substitution T C intron_variant LUSC-KR 6 152148549 152148549 single base substitution G T intron_variant LUSC-KR 6 152152860 152152860 single base substitution C T intron_variant LUSC-KR 6 152153849 152153849 single base substitution C G intron_variant LUSC-KR 6 152155185 152155185 single base substitution A T intron_variant LUSC-KR 6 152156793 152156793 single base substitution A T intron_variant LUSC-KR 6 152159614 152159614 single base substitution T C intron_variant LUSC-KR 6 152163364 152163364 single base substitution G A intron_variant LUSC-KR 6 152163381 152163381 single base substitution A G intron_variant LUSC-KR 6 152164828 152164828 single base substitution A G intron_variant LUSC-KR 6 152164977 152164977 single base substitution G T intron_variant LUSC-KR 6 152165032 152165032 single base substitution G T intron_variant LUSC-KR 6 152165937 152165937 single base substitution G T intron_variant LUSC-KR 6 152168809 152168809 single base substitution C T intron_variant LUSC-KR 6 152169126 152169126 single base substitution G T intron_variant LUSC-KR 6 152169129 152169129 single base substitution C G intron_variant LUSC-KR 6 152169163 152169163 single base substitution T C intron_variant LUSC-KR 6 152169188 152169188 single base substitution C T intron_variant LUSC-KR 6 152170153 152170153 single base substitution T A intron_variant LUSC-KR 6 152170556 152170556 single base substitution A G intron_variant LUSC-KR 6 152172681 152172681 single base substitution G T intron_variant LUSC-KR 6 152174251 152174251 single base substitution G T intron_variant LUSC-KR 6 152175882 152175882 single base substitution A T intron_variant LUSC-KR 6 152175905 152175905 single base substitution G T intron_variant LUSC-KR 6 152176141 152176141 single base substitution C A intron_variant LUSC-KR 6 152178897 152178897 single base substitution C A intron_variant LUSC-KR 6 152182902 152182902 single base substitution A T intron_variant LUSC-KR 6 152183585 152183585 single base substitution T C intron_variant LUSC-KR 6 152185397 152185397 single base substitution C A intron_variant LUSC-KR 6 152186600 152186600 single base substitution G T intron_variant LUSC-KR 6 152188304 152188304 single base substitution A G intron_variant LUSC-KR 6 152188451 152188451 single base substitution G A intron_variant LUSC-KR 6 152191943 152191943 single base substitution G T intron_variant LUSC-KR 6 152192573 152192573 single base substitution T C intron_variant LUSC-KR 6 152193382 152193382 single base substitution A G intron_variant LUSC-KR 6 152193442 152193442 single base substitution C A intron_variant LUSC-KR 6 152193473 152193473 single base substitution C G intron_variant LUSC-KR 6 152195977 152195977 single base substitution T C intron_variant LUSC-KR 6 152197949 152197949 single base substitution G A intron_variant LUSC-KR 6 152197949 152197949 single base substitution G A upstream_gene_variant LUSC-KR 6 152200834 152200834 single base substitution T C intron_variant LUSC-KR 6 152200834 152200834 single base substitution T C upstream_gene_variant LUSC-KR 6 152201475 152201475 single base substitution A T intron_variant LUSC-KR 6 152201475 152201475 single base substitution A T upstream_gene_variant LUSC-KR 6 152202152 152202152 single base substitution A G intron_variant LUSC-KR 6 152203460 152203460 single base substitution G A intron_variant LUSC-KR 6 152205279 152205279 single base substitution G T intron_variant LUSC-KR 6 152206188 152206188 single base substitution C A intron_variant LUSC-KR 6 152212496 152212496 single base substitution C G intron_variant LUSC-KR 6 152217652 152217652 single base substitution G T intron_variant LUSC-KR 6 152218753 152218753 single base substitution G C intron_variant LUSC-KR 6 152218995 152218995 single base substitution A T intron_variant LUSC-KR 6 152220188 152220188 single base substitution C T intron_variant LUSC-KR 6 152220205 152220205 single base substitution T C intron_variant LUSC-KR 6 152220329 152220329 single base substitution G T intron_variant LUSC-KR 6 152220333 152220333 single base substitution A G intron_variant LUSC-KR 6 152221905 152221905 single base substitution C T intron_variant LUSC-KR 6 152222642 152222642 single base substitution C G intron_variant LUSC-KR 6 152223951 152223951 single base substitution C A intron_variant LUSC-KR 6 152225362 152225362 single base substitution C G intron_variant LUSC-KR 6 152225553 152225553 single base substitution C A intron_variant LUSC-KR 6 152226194 152226194 single base substitution C A intron_variant LUSC-KR 6 152226264 152226264 single base substitution A G intron_variant LUSC-KR 6 152229287 152229287 single base substitution A G intron_variant LUSC-KR 6 152229541 152229541 single base substitution A G intron_variant LUSC-KR 6 152229919 152229919 single base substitution C A intron_variant LUSC-KR 6 152232614 152232614 single base substitution C A intron_variant LUSC-KR 6 152233771 152233771 single base substitution C T intron_variant LUSC-KR 6 152235168 152235168 single base substitution G T intron_variant LUSC-KR 6 152235612 152235612 single base substitution T A intron_variant LUSC-KR 6 152237137 152237137 single base substitution G T intron_variant LUSC-KR 6 152238712 152238712 single base substitution T A intron_variant LUSC-KR 6 152238845 152238845 single base substitution C T intron_variant LUSC-KR 6 152241326 152241326 single base substitution G A intron_variant LUSC-KR 6 152242284 152242284 single base substitution T A intron_variant LUSC-KR 6 152244693 152244693 single base substitution T C intron_variant LUSC-KR 6 152246267 152246267 single base substitution G T intron_variant LUSC-KR 6 152246415 152246415 single base substitution G T intron_variant LUSC-KR 6 152246758 152246758 single base substitution A T intron_variant LUSC-KR 6 152250641 152250641 single base substitution A T intron_variant LUSC-KR 6 152250814 152250814 single base substitution G C intron_variant LUSC-KR 6 152251029 152251029 single base substitution T A intron_variant LUSC-KR 6 152251323 152251323 single base substitution G T intron_variant LUSC-KR 6 152251887 152251887 single base substitution G A intron_variant LUSC-KR 6 152252921 152252921 single base substitution C T intron_variant LUSC-KR 6 152252966 152252966 single base substitution T C intron_variant LUSC-KR 6 152253161 152253161 single base substitution A T intron_variant LUSC-KR 6 152253735 152253735 single base substitution A G intron_variant LUSC-KR 6 152254487 152254487 single base substitution G T intron_variant LUSC-KR 6 152254488 152254488 single base substitution G T intron_variant LUSC-KR 6 152254938 152254938 single base substitution T C intron_variant LUSC-KR 6 152255502 152255502 single base substitution G C intron_variant LUSC-KR 6 152257663 152257663 single base substitution G T intron_variant LUSC-KR 6 152258332 152258332 single base substitution G T intron_variant LUSC-KR 6 152258786 152258786 single base substitution T A intron_variant LUSC-KR 6 152263543 152263543 single base substitution G A intron_variant LUSC-KR 6 152263543 152263543 single base substitution G A upstream_gene_variant LUSC-KR 6 152265342 152265342 single base substitution G C exon_variant LUSC-KR 6 152265342 152265342 single base substitution G C intron_variant LUSC-KR 6 152265342 152265342 single base substitution G C missense_variant L265F 795G>C LUSC-KR 6 152265342 152265342 single base substitution G C missense_variant L92F 276G>C LUSC-KR 6 152265871 152265871 single base substitution A G intron_variant LUSC-KR 6 152266159 152266159 single base substitution G A intron_variant LUSC-KR 6 152269800 152269800 single base substitution G A intron_variant LUSC-KR 6 152269929 152269929 single base substitution C T intron_variant LUSC-KR 6 152272651 152272651 single base substitution A G intron_variant LUSC-KR 6 152272944 152272944 single base substitution C A intron_variant LUSC-KR 6 152273736 152273736 single base substitution C T intron_variant LUSC-KR 6 152274796 152274796 single base substitution C T intron_variant LUSC-KR 6 152278155 152278155 single base substitution G T intron_variant LUSC-KR 6 152281990 152281990 single base substitution G T intron_variant LUSC-KR 6 152283156 152283156 single base substitution G A intron_variant LUSC-KR 6 152287937 152287937 single base substitution G T intron_variant LUSC-KR 6 152290782 152290782 single base substitution G T intron_variant LUSC-KR 6 152291748 152291748 single base substitution T A intron_variant LUSC-KR 6 152294018 152294018 single base substitution C A intron_variant LUSC-KR 6 152294078 152294078 single base substitution A T intron_variant LUSC-KR 6 152294876 152294876 single base substitution T A intron_variant LUSC-KR 6 152296312 152296312 single base substitution C A intron_variant LUSC-KR 6 152296346 152296346 single base substitution G T intron_variant LUSC-KR 6 152297784 152297784 single base substitution C G intron_variant LUSC-KR 6 152297833 152297833 single base substitution A G intron_variant LUSC-KR 6 152302587 152302587 single base substitution A T intron_variant LUSC-KR 6 152304035 152304035 single base substitution C T intron_variant LUSC-KR 6 152305078 152305078 single base substitution G T intron_variant LUSC-KR 6 152305116 152305116 single base substitution A T exon_variant LUSC-KR 6 152305116 152305116 single base substitution A T intron_variant LUSC-KR 6 152306561 152306561 single base substitution T C downstream_gene_variant LUSC-KR 6 152306561 152306561 single base substitution T C intron_variant LUSC-KR 6 152307052 152307052 single base substitution C T downstream_gene_variant LUSC-KR 6 152307052 152307052 single base substitution C T intron_variant LUSC-KR 6 152307776 152307776 single base substitution G T downstream_gene_variant LUSC-KR 6 152307776 152307776 single base substitution G T intron_variant LUSC-KR 6 152310154 152310154 single base substitution C T downstream_gene_variant LUSC-KR 6 152310154 152310154 single base substitution C T intron_variant LUSC-KR 6 152311407 152311407 single base substitution G T intron_variant LUSC-KR 6 152311464 152311464 single base substitution C T intron_variant LUSC-KR 6 152313612 152313612 single base substitution G T intron_variant LUSC-KR 6 152315269 152315269 single base substitution G T intron_variant LUSC-KR 6 152316072 152316072 single base substitution C G intron_variant LUSC-KR 6 152317615 152317615 single base substitution C T intron_variant LUSC-KR 6 152317774 152317774 single base substitution A G intron_variant LUSC-KR 6 152318343 152318343 single base substitution G C intron_variant LUSC-KR 6 152322974 152322974 single base substitution A G intron_variant LUSC-KR 6 152326297 152326297 single base substitution G T intron_variant LUSC-KR 6 152326303 152326303 single base substitution G T intron_variant LUSC-KR 6 152326777 152326777 single base substitution C T intron_variant LUSC-KR 6 152328954 152328954 single base substitution C T intron_variant LUSC-KR 6 152329017 152329017 single base substitution G T intron_variant LUSC-KR 6 152331387 152331387 single base substitution C T intron_variant LUSC-KR 6 152336249 152336249 single base substitution T C intron_variant LUSC-KR 6 152338220 152338220 single base substitution T C intron_variant LUSC-KR 6 152339577 152339577 single base substitution G T intron_variant LUSC-KR 6 152340441 152340441 single base substitution C A intron_variant LUSC-KR 6 152341706 152341706 single base substitution C T intron_variant LUSC-KR 6 152342317 152342317 single base substitution T A intron_variant LUSC-KR 6 152342318 152342318 single base substitution C G intron_variant LUSC-KR 6 152343844 152343844 single base substitution C A intron_variant LUSC-KR 6 152345372 152345372 single base substitution C T intron_variant LUSC-KR 6 152347449 152347449 single base substitution C A intron_variant LUSC-KR 6 152348521 152348521 single base substitution G A intron_variant LUSC-KR 6 152350236 152350236 single base substitution T C intron_variant LUSC-KR 6 152350740 152350740 single base substitution G C intron_variant LUSC-KR 6 152350928 152350928 single base substitution C T intron_variant LUSC-KR 6 152354925 152354925 single base substitution C A intron_variant LUSC-KR 6 152356418 152356418 single base substitution T A intron_variant LUSC-KR 6 152358587 152358587 single base substitution A T intron_variant LUSC-KR 6 152358649 152358649 single base substitution C A intron_variant LUSC-KR 6 152360805 152360805 single base substitution G T intron_variant LUSC-KR 6 152360831 152360831 single base substitution C G intron_variant LUSC-KR 6 152361181 152361181 single base substitution G T intron_variant LUSC-KR 6 152363023 152363023 single base substitution C A intron_variant LUSC-KR 6 152363664 152363664 single base substitution G T intron_variant LUSC-KR 6 152363772 152363772 single base substitution G C intron_variant LUSC-KR 6 152364073 152364073 single base substitution T C intron_variant LUSC-KR 6 152364345 152364345 single base substitution G A intron_variant LUSC-KR 6 152364717 152364717 single base substitution G A intron_variant LUSC-KR 6 152365393 152365393 single base substitution A G intron_variant LUSC-KR 6 152366783 152366783 single base substitution C A intron_variant LUSC-KR 6 152368089 152368089 single base substitution T A intron_variant LUSC-KR 6 152368528 152368528 single base substitution A G intron_variant LUSC-KR 6 152368728 152368728 single base substitution G C intron_variant LUSC-KR 6 152369737 152369737 single base substitution C A intron_variant LUSC-KR 6 152370989 152370989 single base substitution G T intron_variant LUSC-KR 6 152371470 152371470 single base substitution T C intron_variant LUSC-KR 6 152374577 152374577 single base substitution C A intron_variant LUSC-KR 6 152374686 152374686 single base substitution C G intron_variant LUSC-KR 6 152375379 152375379 single base substitution C T intron_variant LUSC-KR 6 152377260 152377260 single base substitution T C intron_variant LUSC-KR 6 152379024 152379024 single base substitution C A intron_variant LUSC-KR 6 152379152 152379152 single base substitution A T intron_variant LUSC-KR 6 152379725 152379725 single base substitution T C intron_variant LUSC-KR 6 152382014 152382014 single base substitution A G intron_variant LUSC-KR 6 152382130 152382130 single base substitution C T stop_gained Q153* 457C>T LUSC-KR 6 152382130 152382130 single base substitution C T stop_gained Q241* 721C>T LUSC-KR 6 152382130 152382130 single base substitution C T stop_gained Q302* 904C>T LUSC-KR 6 152382130 152382130 single base substitution C T stop_gained Q414* 1240C>T LUSC-KR 6 152382130 152382130 single base substitution C T stop_gained Q87* 259C>T LUSC-KR 6 152382311 152382311 single base substitution G T downstream_gene_variant LUSC-KR 6 152382311 152382311 single base substitution G T intron_variant LUSC-KR 6 152382325 152382325 single base substitution A G downstream_gene_variant LUSC-KR 6 152382325 152382325 single base substitution A G intron_variant LUSC-KR 6 152382843 152382843 single base substitution G A downstream_gene_variant LUSC-KR 6 152382843 152382843 single base substitution G A intron_variant LUSC-KR 6 152383614 152383614 single base substitution T A downstream_gene_variant LUSC-KR 6 152383614 152383614 single base substitution T A intron_variant LUSC-KR 6 152383673 152383673 single base substitution C A downstream_gene_variant LUSC-KR 6 152383673 152383673 single base substitution C A intron_variant LUSC-KR 6 152383804 152383804 single base substitution G C downstream_gene_variant LUSC-KR 6 152383804 152383804 single base substitution G C intron_variant LUSC-KR 6 152383912 152383912 single base substitution C A downstream_gene_variant LUSC-KR 6 152383912 152383912 single base substitution C A intron_variant LUSC-KR 6 152384512 152384512 single base substitution T C downstream_gene_variant LUSC-KR 6 152384512 152384512 single base substitution T C intron_variant LUSC-KR 6 152387749 152387749 single base substitution T C intron_variant LUSC-KR 6 152387861 152387861 single base substitution C T intron_variant LUSC-KR 6 152389299 152389299 single base substitution C A intron_variant LUSC-KR 6 152390443 152390443 single base substitution C A intron_variant LUSC-KR 6 152390732 152390732 single base substitution G T intron_variant LUSC-KR 6 152392176 152392176 single base substitution C A intron_variant LUSC-KR 6 152394503 152394503 single base substitution G T intron_variant LUSC-KR 6 152395390 152395390 single base substitution T A intron_variant LUSC-KR 6 152395690 152395690 single base substitution A G intron_variant LUSC-KR 6 152396695 152396695 single base substitution C A intron_variant LUSC-KR 6 152398252 152398252 single base substitution G T intron_variant LUSC-KR 6 152400862 152400862 single base substitution G C intron_variant LUSC-KR 6 152402192 152402192 single base substitution A G intron_variant LUSC-KR 6 152402206 152402206 single base substitution C T intron_variant LUSC-KR 6 152403130 152403130 single base substitution A G intron_variant LUSC-KR 6 152403487 152403487 single base substitution T A intron_variant LUSC-KR 6 152405421 152405421 single base substitution G T intron_variant LUSC-KR 6 152406790 152406790 single base substitution G C intron_variant LUSC-KR 6 152408158 152408158 single base substitution G T intron_variant LUSC-KR 6 152411480 152411480 single base substitution T C intron_variant LUSC-KR 6 152412769 152412769 single base substitution A T intron_variant LUSC-KR 6 152413990 152413990 single base substitution G T intron_variant LUSC-KR 6 152414221 152414221 single base substitution G T intron_variant LUSC-KR 6 152418465 152418465 single base substitution T A intron_variant LUSC-KR 6 152421317 152421317 single base substitution C A 3_prime_UTR_variant LUSC-KR 6 152421317 152421317 single base substitution C A downstream_gene_variant LUSC-KR 6 152421317 152421317 single base substitution C A intron_variant LUSC-KR 6 152424411 152424411 single base substitution A G downstream_gene_variant LUSC-KR 6 152424411 152424411 single base substitution A G intron_variant LUSC-KR 6 152426659 152426659 single base substitution C T downstream_gene_variant LUSC-KR 6 152426659 152426659 single base substitution C T intron_variant LUSC-KR 6 152428049 152428049 single base substitution T C downstream_gene_variant LUSC-KR 6 152428049 152428049 single base substitution T C intron_variant LUSC-KR 6 152432297 152432297 single base substitution G T intron_variant LUSC-KR 6 152433803 152433803 single base substitution T G intron_variant LUSC-KR 6 152434449 152434449 single base substitution C A intron_variant LUSC-KR 6 152437920 152437920 single base substitution C A intron_variant LUSC-KR 6 152438263 152438263 single base substitution C T intron_variant LUSC-KR 6 152439221 152439221 single base substitution C T intron_variant LUSC-KR 6 152440217 152440217 single base substitution G T intron_variant LUSC-KR 6 152442988 152442988 single base substitution T C intron_variant LUSC-KR 6 152443761 152443761 single base substitution C T intron_variant LUSC-KR 6 152447119 152447119 single base substitution C A 3_prime_UTR_variant LUSC-KR 6 152452390 152452390 single base substitution T A downstream_gene_variant LUSC-KR 6 152452647 152452647 single base substitution A G downstream_gene_variant LUSC-KR 6 152453858 152453858 single base substitution G T downstream_gene_variant LUSC-US 6 152129166 152129166 single base substitution G T downstream_gene_variant LUSC-US 6 152129166 152129166 single base substitution G T missense_variant G40V 119G>T LUSC-US 6 152129166 152129166 single base substitution G T upstream_gene_variant LUSC-US 6 152163791 152163791 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 6 152163791 152163791 single base substitution A T intron_variant LUSC-US 6 152163791 152163791 single base substitution A T missense_variant K171M 512A>T LUSC-US 6 152163792 152163792 single base substitution G A 5_prime_UTR_variant LUSC-US 6 152163792 152163792 single base substitution G A intron_variant LUSC-US 6 152163792 152163792 single base substitution G A synonymous_variant K171K 513G>A LUSC-US 6 152163866 152163866 single base substitution A G intron_variant LUSC-US 6 152163866 152163866 single base substitution A G missense_variant H196R 587A>G LUSC-US 6 152163866 152163866 single base substitution A G missense_variant H23R 68A>G LUSC-US 6 152265432 152265432 single base substitution G T exon_variant LUSC-US 6 152265432 152265432 single base substitution G T intron_variant LUSC-US 6 152265432 152265432 single base substitution G T synonymous_variant P122P 366G>T LUSC-US 6 152265432 152265432 single base substitution G T synonymous_variant P295P 885G>T LUSC-US 6 152265522 152265522 deletion of <=200bp G - exon_variant LUSC-US 6 152265522 152265522 deletion of <=200bp G - frameshift_variant P152 LUSC-US 6 152265522 152265522 deletion of <=200bp G - frameshift_variant P325 LUSC-US 6 152265522 152265522 deletion of <=200bp G - intron_variant LUSC-US 6 152332811 152332811 single base substitution C A intron_variant LUSC-US 6 152332811 152332811 single base substitution C A missense_variant H200N 598C>A LUSC-US 6 152332811 152332811 single base substitution C A missense_variant H261N 781C>A LUSC-US 6 152332811 152332811 single base substitution C A missense_variant H373N 1117C>A LUSC-US 6 152332811 152332811 single base substitution C A missense_variant H46N 136C>A LUSC-US 6 152415611 152415611 single base substitution C T intron_variant LUSC-US 6 152415611 152415611 single base substitution C T synonymous_variant I226I 678C>T LUSC-US 6 152415611 152415611 single base substitution C T synonymous_variant I375I 1125C>T LUSC-US 6 152415611 152415611 single base substitution C T synonymous_variant I487I 1461C>T LUSC-US 6 152415612 152415612 single base substitution C T intron_variant LUSC-US 6 152415612 152415612 single base substitution C T missense_variant H227Y 679C>T LUSC-US 6 152415612 152415612 single base substitution C T missense_variant H376Y 1126C>T LUSC-US 6 152415612 152415612 single base substitution C T missense_variant H488Y 1462C>T LUSC-US 6 152415692 152415692 single base substitution C A intron_variant LUSC-US 6 152415692 152415692 single base substitution C A synonymous_variant I253I 759C>A LUSC-US 6 152415692 152415692 single base substitution C A synonymous_variant I402I 1206C>A LUSC-US 6 152415692 152415692 single base substitution C A synonymous_variant I514I 1542C>A LUSC-US 6 152451874 152451874 single base substitution C T downstream_gene_variant MALY-DE 6 151975930 151975930 insertion of <=200bp - A upstream_gene_variant MALY-DE 6 151977641 151977641 single base substitution T G upstream_gene_variant MALY-DE 6 151978129 151978129 single base substitution G T intron_variant MALY-DE 6 151979759 151979759 single base substitution T G intron_variant MALY-DE 6 151985411 151985411 single base substitution C T intron_variant MALY-DE 6 151985708 151985708 single base substitution C A intron_variant MALY-DE 6 151993414 151993414 insertion of <=200bp - A intron_variant MALY-DE 6 152004313 152004313 single base substitution C T intron_variant MALY-DE 6 152005263 152005263 single base substitution G A intron_variant MALY-DE 6 152005580 152005580 single base substitution G A intron_variant MALY-DE 6 152006139 152006139 single base substitution T C intron_variant MALY-DE 6 152009636 152009636 single base substitution A G intron_variant MALY-DE 6 152009636 152009636 single base substitution A G upstream_gene_variant MALY-DE 6 152021795 152021795 single base substitution A T intron_variant MALY-DE 6 152025647 152025647 single base substitution C T intron_variant MALY-DE 6 152028855 152028855 single base substitution T A intron_variant MALY-DE 6 152030079 152030079 single base substitution T G intron_variant MALY-DE 6 152032501 152032501 single base substitution C T intron_variant MALY-DE 6 152039273 152039273 single base substitution T G intron_variant MALY-DE 6 152044100 152044100 single base substitution C T intron_variant MALY-DE 6 152048822 152048822 single base substitution A C intron_variant MALY-DE 6 152052192 152052192 single base substitution G A intron_variant MALY-DE 6 152064392 152064392 single base substitution C A intron_variant MALY-DE 6 152064723 152064723 insertion of <=200bp - CATACTT intron_variant MALY-DE 6 152068090 152068090 single base substitution G T intron_variant MALY-DE 6 152072593 152072593 single base substitution G T intron_variant MALY-DE 6 152095265 152095265 single base substitution C T intron_variant MALY-DE 6 152097016 152097016 single base substitution C T intron_variant MALY-DE 6 152097645 152097645 single base substitution C T intron_variant MALY-DE 6 152101271 152101271 single base substitution T C intron_variant MALY-DE 6 152101810 152101810 single base substitution A G intron_variant MALY-DE 6 152104137 152104137 single base substitution T C intron_variant MALY-DE 6 152107223 152107223 single base substitution G A intron_variant MALY-DE 6 152112976 152112976 deletion of <=200bp A - intron_variant MALY-DE 6 152113512 152113512 single base substitution T G intron_variant MALY-DE 6 152113798 152113798 single base substitution C T intron_variant MALY-DE 6 152115629 152115629 insertion of <=200bp - T intron_variant MALY-DE 6 152117006 152117006 single base substitution C T intron_variant MALY-DE 6 152119616 152119616 single base substitution A C intron_variant MALY-DE 6 152127666 152127667 deletion of <=200bp TA - intron_variant MALY-DE 6 152127666 152127667 deletion of <=200bp TA - upstream_gene_variant MALY-DE 6 152130852 152130852 single base substitution A C downstream_gene_variant MALY-DE 6 152130852 152130852 single base substitution A C intron_variant MALY-DE 6 152131015 152131015 single base substitution T A downstream_gene_variant MALY-DE 6 152131015 152131015 single base substitution T A intron_variant MALY-DE 6 152139093 152139093 single base substitution G T intron_variant MALY-DE 6 152139872 152139872 single base substitution T G intron_variant MALY-DE 6 152153845 152153845 single base substitution C G intron_variant MALY-DE 6 152154381 152154381 single base substitution A C intron_variant MALY-DE 6 152158620 152158620 single base substitution A T intron_variant MALY-DE 6 152162336 152162336 single base substitution C T intron_variant MALY-DE 6 152171519 152171520 deletion of <=200bp AG - intron_variant MALY-DE 6 152171519 152171522 deletion of <=200bp AGAG - intron_variant MALY-DE 6 152173227 152173227 single base substitution T C intron_variant MALY-DE 6 152173534 152173534 single base substitution A T intron_variant MALY-DE 6 152180120 152180120 single base substitution A G intron_variant MALY-DE 6 152182107 152182107 single base substitution C A intron_variant MALY-DE 6 152190371 152190371 single base substitution G T intron_variant MALY-DE 6 152191607 152191607 single base substitution G A intron_variant MALY-DE 6 152191994 152191994 deletion of <=200bp T - intron_variant MALY-DE 6 152193174 152193174 single base substitution A C intron_variant MALY-DE 6 152198249 152198249 insertion of <=200bp - T intron_variant MALY-DE 6 152198249 152198249 insertion of <=200bp - T upstream_gene_variant MALY-DE 6 152198721 152198721 single base substitution T G intron_variant MALY-DE 6 152198721 152198721 single base substitution T G upstream_gene_variant MALY-DE 6 152203072 152203072 single base substitution C T intron_variant MALY-DE 6 152206940 152206940 single base substitution A G intron_variant MALY-DE 6 152207179 152207179 deletion of <=200bp T - intron_variant MALY-DE 6 152208923 152208923 insertion of <=200bp - T intron_variant MALY-DE 6 152209840 152209840 single base substitution G A intron_variant MALY-DE 6 152218739 152218739 single base substitution C A intron_variant MALY-DE 6 152219392 152219392 single base substitution A C intron_variant MALY-DE 6 152221971 152221971 single base substitution G T intron_variant MALY-DE 6 152224742 152224742 single base substitution A G intron_variant MALY-DE 6 152226070 152226070 single base substitution C T intron_variant MALY-DE 6 152242509 152242509 single base substitution G C intron_variant MALY-DE 6 152246785 152246785 single base substitution T G intron_variant MALY-DE 6 152255632 152255632 single base substitution A C intron_variant MALY-DE 6 152257302 152257302 single base substitution C G intron_variant MALY-DE 6 152261612 152261612 single base substitution A C intron_variant MALY-DE 6 152261612 152261612 single base substitution A C upstream_gene_variant MALY-DE 6 152263042 152263042 single base substitution G A intron_variant MALY-DE 6 152263042 152263042 single base substitution G A upstream_gene_variant MALY-DE 6 152263218 152263218 single base substitution A C intron_variant MALY-DE 6 152263218 152263218 single base substitution A C upstream_gene_variant MALY-DE 6 152263541 152263541 single base substitution C T intron_variant MALY-DE 6 152263541 152263541 single base substitution C T upstream_gene_variant MALY-DE 6 152264911 152264911 single base substitution G A intron_variant MALY-DE 6 152264911 152264911 single base substitution G A upstream_gene_variant MALY-DE 6 152265452 152265452 single base substitution A C exon_variant MALY-DE 6 152265452 152265452 single base substitution A C intron_variant MALY-DE 6 152265452 152265452 single base substitution A C missense_variant K129T 386A>C MALY-DE 6 152265452 152265452 single base substitution A C missense_variant K302T 905A>C MALY-DE 6 152266394 152266394 single base substitution T G intron_variant MALY-DE 6 152272261 152272261 single base substitution T A intron_variant MALY-DE 6 152275237 152275237 single base substitution A C intron_variant MALY-DE 6 152276160 152276160 single base substitution A C intron_variant MALY-DE 6 152279960 152279960 single base substitution T C intron_variant MALY-DE 6 152280109 152280110 deletion of <=200bp GT - intron_variant MALY-DE 6 152280829 152280829 deletion of <=200bp T - intron_variant MALY-DE 6 152286378 152286378 single base substitution A C intron_variant MALY-DE 6 152287693 152287693 single base substitution T C intron_variant MALY-DE 6 152292332 152292332 deletion of <=200bp T - intron_variant MALY-DE 6 152293783 152293783 single base substitution A G intron_variant MALY-DE 6 152294744 152294744 single base substitution T C intron_variant MALY-DE 6 152296498 152296498 deletion of <=200bp T - intron_variant MALY-DE 6 152299123 152299123 single base substitution G T intron_variant MALY-DE 6 152299558 152299558 single base substitution G T intron_variant MALY-DE 6 152300476 152300476 deletion of <=200bp T - intron_variant MALY-DE 6 152301783 152301783 single base substitution T G intron_variant MALY-DE 6 152306800 152306800 single base substitution A T downstream_gene_variant MALY-DE 6 152306800 152306800 single base substitution A T intron_variant MALY-DE 6 152309383 152309383 single base substitution G C downstream_gene_variant MALY-DE 6 152309383 152309383 single base substitution G C intron_variant MALY-DE 6 152309630 152309630 single base substitution A G downstream_gene_variant MALY-DE 6 152309630 152309630 single base substitution A G intron_variant MALY-DE 6 152309990 152309990 single base substitution T A downstream_gene_variant MALY-DE 6 152309990 152309990 single base substitution T A intron_variant MALY-DE 6 152312576 152312576 deletion of <=200bp A - intron_variant MALY-DE 6 152312576 152312576 insertion of <=200bp - A intron_variant MALY-DE 6 152314585 152314585 single base substitution G C intron_variant MALY-DE 6 152315844 152315844 single base substitution C T intron_variant MALY-DE 6 152320802 152320802 single base substitution A C intron_variant MALY-DE 6 152323232 152323232 single base substitution G A intron_variant MALY-DE 6 152324476 152324477 deletion of <=200bp TG - intron_variant MALY-DE 6 152327437 152327437 single base substitution C A intron_variant MALY-DE 6 152327819 152327819 single base substitution A C intron_variant MALY-DE 6 152341271 152341271 single base substitution G T intron_variant MALY-DE 6 152342478 152342478 single base substitution A C intron_variant MALY-DE 6 152346724 152346724 single base substitution C T intron_variant MALY-DE 6 152346893 152346893 single base substitution C T intron_variant MALY-DE 6 152356667 152356667 single base substitution C T intron_variant MALY-DE 6 152366418 152366418 single base substitution G T intron_variant MALY-DE 6 152368829 152368829 single base substitution G A intron_variant MALY-DE 6 152374789 152374790 deletion of <=200bp CT - intron_variant MALY-DE 6 152374981 152374981 single base substitution T G intron_variant MALY-DE 6 152378830 152378831 deletion of <=200bp AC - intron_variant MALY-DE 6 152382034 152382034 single base substitution T G intron_variant MALY-DE 6 152383276 152383276 single base substitution T A downstream_gene_variant MALY-DE 6 152383276 152383276 single base substitution T A intron_variant MALY-DE 6 152383930 152383930 single base substitution A T downstream_gene_variant MALY-DE 6 152383930 152383930 single base substitution A T intron_variant MALY-DE 6 152385825 152385825 single base substitution C A downstream_gene_variant MALY-DE 6 152385825 152385825 single base substitution C A intron_variant MALY-DE 6 152387605 152387605 single base substitution G A intron_variant MALY-DE 6 152392188 152392191 deletion of <=200bp AGAG - intron_variant MALY-DE 6 152397723 152397723 single base substitution T A intron_variant MALY-DE 6 152402142 152402142 single base substitution C G intron_variant MALY-DE 6 152406591 152406591 single base substitution A C intron_variant MALY-DE 6 152408768 152408768 single base substitution A C intron_variant MALY-DE 6 152409507 152409507 single base substitution G A intron_variant MALY-DE 6 152411985 152411985 single base substitution C T intron_variant MALY-DE 6 152417404 152417407 deletion of <=200bp ATTC - intron_variant MALY-DE 6 152419261 152419261 insertion of <=200bp - A intron_variant MALY-DE 6 152427144 152427144 single base substitution G A downstream_gene_variant MALY-DE 6 152427144 152427144 single base substitution G A intron_variant MALY-DE 6 152436050 152436053 deletion of <=200bp AAGC - intron_variant MALY-DE 6 152436508 152436508 single base substitution C T intron_variant MALY-DE 6 152440212 152440212 single base substitution G A intron_variant MALY-DE 6 152441282 152441282 single base substitution A C intron_variant MALY-DE 6 152441524 152441524 single base substitution C T intron_variant MALY-DE 6 152442526 152442526 single base substitution C T intron_variant MALY-DE 6 152444183 152444183 single base substitution T C intron_variant MALY-DE 6 152446049 152446049 insertion of <=200bp - T intron_variant MALY-DE 6 152447577 152447577 single base substitution T C 3_prime_UTR_variant MALY-DE 6 152450700 152450700 single base substitution A T 3_prime_UTR_variant MALY-DE 6 152455298 152455298 single base substitution C A downstream_gene_variant MELA-AU 6 151973090 151973090 single base substitution C T upstream_gene_variant MELA-AU 6 151973149 151973149 single base substitution G A upstream_gene_variant MELA-AU 6 151973803 151973803 single base substitution G A upstream_gene_variant MELA-AU 6 151973804 151973804 single base substitution G A upstream_gene_variant MELA-AU 6 151974326 151974326 single base substitution C T upstream_gene_variant MELA-AU 6 151974366 151974366 deletion of <=200bp T - upstream_gene_variant MELA-AU 6 151974380 151974380 single base substitution G A upstream_gene_variant MELA-AU 6 151974422 151974422 single base substitution C T upstream_gene_variant MELA-AU 6 151974533 151974533 single base substitution G A upstream_gene_variant MELA-AU 6 151974615 151974615 single base substitution C T upstream_gene_variant MELA-AU 6 151974639 151974639 single base substitution G A upstream_gene_variant MELA-AU 6 151974640 151974640 single base substitution G A upstream_gene_variant MELA-AU 6 151974948 151974948 single base substitution T A upstream_gene_variant MELA-AU 6 151974962 151974962 single base substitution T A upstream_gene_variant MELA-AU 6 151974979 151974979 single base substitution G A upstream_gene_variant MELA-AU 6 151975065 151975065 single base substitution C T upstream_gene_variant MELA-AU 6 151975126 151975126 single base substitution T A upstream_gene_variant MELA-AU 6 151975379 151975379 single base substitution C T upstream_gene_variant MELA-AU 6 151975406 151975406 single base substitution C T upstream_gene_variant MELA-AU 6 151975436 151975436 single base substitution A T upstream_gene_variant MELA-AU 6 151975637 151975637 single base substitution G A upstream_gene_variant MELA-AU 6 151975638 151975638 single base substitution G A upstream_gene_variant MELA-AU 6 151975653 151975653 single base substitution G A upstream_gene_variant MELA-AU 6 151975670 151975670 single base substitution G A upstream_gene_variant MELA-AU 6 151975738 151975738 single base substitution G A upstream_gene_variant MELA-AU 6 151975785 151975785 single base substitution G A upstream_gene_variant MELA-AU 6 151975791 151975791 single base substitution C T upstream_gene_variant MELA-AU 6 151975921 151975921 single base substitution G A upstream_gene_variant MELA-AU 6 151976158 151976158 single base substitution G A upstream_gene_variant MELA-AU 6 151976212 151976212 single base substitution G A upstream_gene_variant MELA-AU 6 151976337 151976337 single base substitution C T upstream_gene_variant MELA-AU 6 151976350 151976350 single base substitution G A upstream_gene_variant MELA-AU 6 151976391 151976391 single base substitution C T upstream_gene_variant MELA-AU 6 151976440 151976440 single base substitution G A upstream_gene_variant MELA-AU 6 151976555 151976555 single base substitution G A upstream_gene_variant MELA-AU 6 151977086 151977086 single base substitution G A upstream_gene_variant MELA-AU 6 151977146 151977147 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 6 151977254 151977254 single base substitution A G upstream_gene_variant MELA-AU 6 151977417 151977417 single base substitution C T upstream_gene_variant MELA-AU 6 151977492 151977492 single base substitution C T upstream_gene_variant MELA-AU 6 151977768 151977768 single base substitution T A upstream_gene_variant MELA-AU 6 151978044 151978044 single base substitution G A intron_variant MELA-AU 6 151978111 151978111 single base substitution G A intron_variant MELA-AU 6 151978165 151978165 single base substitution G A intron_variant MELA-AU 6 151978276 151978276 single base substitution C T intron_variant MELA-AU 6 151978413 151978413 single base substitution G A intron_variant MELA-AU 6 151978421 151978421 single base substitution G A intron_variant MELA-AU 6 151978425 151978425 single base substitution T A intron_variant MELA-AU 6 151978658 151978658 single base substitution G A intron_variant MELA-AU 6 151978720 151978720 single base substitution G A intron_variant MELA-AU 6 151978832 151978832 single base substitution G A intron_variant MELA-AU 6 151978935 151978935 single base substitution G A intron_variant MELA-AU 6 151978943 151978944 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 6 151978985 151978985 single base substitution C T intron_variant MELA-AU 6 151978999 151978999 single base substitution T C intron_variant MELA-AU 6 151979008 151979008 single base substitution C T intron_variant MELA-AU 6 151979040 151979040 single base substitution G A intron_variant MELA-AU 6 151979158 151979158 single base substitution G A intron_variant MELA-AU 6 151979249 151979249 single base substitution A G intron_variant MELA-AU 6 151979335 151979335 single base substitution C T intron_variant MELA-AU 6 151979454 151979454 single base substitution G A intron_variant MELA-AU 6 151979520 151979520 single base substitution C T intron_variant MELA-AU 6 151979574 151979574 single base substitution C T intron_variant MELA-AU 6 151979684 151979684 single base substitution C T intron_variant MELA-AU 6 151979713 151979713 single base substitution G A intron_variant MELA-AU 6 151979781 151979781 single base substitution G A intron_variant MELA-AU 6 151979830 151979830 single base substitution C T intron_variant MELA-AU 6 151980179 151980179 single base substitution G A intron_variant MELA-AU 6 151980342 151980342 single base substitution T C intron_variant MELA-AU 6 151980869 151980869 single base substitution C T intron_variant MELA-AU 6 151980884 151980884 single base substitution C T intron_variant MELA-AU 6 151981032 151981032 single base substitution G A intron_variant MELA-AU 6 151981435 151981435 single base substitution G A intron_variant MELA-AU 6 151981678 151981678 single base substitution C T intron_variant MELA-AU 6 151981809 151981809 single base substitution C T intron_variant MELA-AU 6 151982050 151982050 single base substitution C T intron_variant MELA-AU 6 151982124 151982124 single base substitution C T intron_variant MELA-AU 6 151982206 151982206 single base substitution G A intron_variant MELA-AU 6 151982408 151982408 single base substitution G A intron_variant MELA-AU 6 151982443 151982443 single base substitution G A intron_variant MELA-AU 6 151982562 151982562 single base substitution G A intron_variant MELA-AU 6 151982824 151982824 single base substitution C T intron_variant MELA-AU 6 151982968 151982968 single base substitution C T intron_variant MELA-AU 6 151983028 151983028 single base substitution T A intron_variant MELA-AU 6 151983054 151983054 single base substitution G A intron_variant MELA-AU 6 151983510 151983510 single base substitution C T intron_variant MELA-AU 6 151983562 151983562 single base substitution G A intron_variant MELA-AU 6 151983713 151983713 single base substitution C T intron_variant MELA-AU 6 151983776 151983776 single base substitution A G intron_variant MELA-AU 6 151983933 151983933 single base substitution G A intron_variant MELA-AU 6 151983974 151983974 single base substitution G A intron_variant MELA-AU 6 151984158 151984158 single base substitution A T intron_variant MELA-AU 6 151984447 151984447 single base substitution T G intron_variant MELA-AU 6 151984682 151984682 single base substitution G A intron_variant MELA-AU 6 151984757 151984757 single base substitution G T intron_variant MELA-AU 6 151984961 151984961 single base substitution C T intron_variant MELA-AU 6 151985315 151985315 single base substitution G A intron_variant MELA-AU 6 151985519 151985519 single base substitution G A intron_variant MELA-AU 6 151985536 151985536 single base substitution G A intron_variant MELA-AU 6 151985948 151985948 single base substitution C T intron_variant MELA-AU 6 151986351 151986351 single base substitution C T intron_variant MELA-AU 6 151986475 151986475 single base substitution T C intron_variant MELA-AU 6 151986542 151986542 single base substitution G A intron_variant MELA-AU 6 151986577 151986577 single base substitution C T intron_variant MELA-AU 6 151986676 151986676 single base substitution G T intron_variant MELA-AU 6 151986781 151986781 single base substitution C T intron_variant MELA-AU 6 151986782 151986782 single base substitution C T intron_variant MELA-AU 6 151987170 151987170 single base substitution G A intron_variant MELA-AU 6 151987209 151987209 single base substitution G A intron_variant MELA-AU 6 151987282 151987282 single base substitution G A intron_variant MELA-AU 6 151987469 151987469 single base substitution C T intron_variant MELA-AU 6 151987481 151987481 single base substitution T C intron_variant MELA-AU 6 151987526 151987526 single base substitution G A intron_variant MELA-AU 6 151987569 151987569 single base substitution G A intron_variant MELA-AU 6 151987944 151987944 single base substitution G A intron_variant MELA-AU 6 151988088 151988088 single base substitution G A intron_variant MELA-AU 6 151988280 151988280 single base substitution T C intron_variant MELA-AU 6 151988286 151988286 single base substitution G A intron_variant MELA-AU 6 151988344 151988344 single base substitution C T intron_variant MELA-AU 6 151988418 151988418 single base substitution C T intron_variant MELA-AU 6 151988677 151988677 single base substitution G A intron_variant MELA-AU 6 151988871 151988871 single base substitution G A intron_variant MELA-AU 6 151989109 151989109 single base substitution C T intron_variant MELA-AU 6 151989291 151989291 single base substitution G A intron_variant MELA-AU 6 151989512 151989512 single base substitution C T intron_variant MELA-AU 6 151989516 151989516 single base substitution C T intron_variant MELA-AU 6 151989645 151989645 single base substitution C T intron_variant MELA-AU 6 151989653 151989653 single base substitution C T intron_variant MELA-AU 6 151989656 151989656 single base substitution G A intron_variant MELA-AU 6 151989725 151989725 single base substitution C T intron_variant MELA-AU 6 151990000 151990000 single base substitution G A intron_variant MELA-AU 6 151990016 151990016 single base substitution G A intron_variant MELA-AU 6 151990240 151990240 single base substitution C T intron_variant MELA-AU 6 151990398 151990398 single base substitution G A intron_variant MELA-AU 6 151990419 151990419 single base substitution G A intron_variant MELA-AU 6 151990560 151990560 single base substitution C T intron_variant MELA-AU 6 151990824 151990824 single base substitution G A intron_variant MELA-AU 6 151990898 151990898 single base substitution G A intron_variant MELA-AU 6 151991048 151991048 single base substitution G A intron_variant MELA-AU 6 151991049 151991049 single base substitution G A intron_variant MELA-AU 6 151991138 151991138 single base substitution G A intron_variant MELA-AU 6 151991139 151991139 single base substitution G A intron_variant MELA-AU 6 151991252 151991252 single base substitution C T intron_variant MELA-AU 6 151991668 151991668 single base substitution C T intron_variant MELA-AU 6 151991784 151991784 single base substitution T C intron_variant MELA-AU 6 151991916 151991916 single base substitution T C intron_variant MELA-AU 6 151992692 151992692 single base substitution G A intron_variant MELA-AU 6 151992733 151992733 single base substitution T C intron_variant MELA-AU 6 151993081 151993081 single base substitution C T intron_variant MELA-AU 6 151993125 151993125 single base substitution A T intron_variant MELA-AU 6 151993212 151993212 single base substitution C T intron_variant MELA-AU 6 151993607 151993607 single base substitution G A intron_variant MELA-AU 6 151993686 151993686 single base substitution G A intron_variant MELA-AU 6 151993742 151993742 single base substitution G A intron_variant MELA-AU 6 151993878 151993878 single base substitution G A intron_variant MELA-AU 6 151993915 151993915 single base substitution T A intron_variant MELA-AU 6 151994027 151994027 single base substitution G A intron_variant MELA-AU 6 151994086 151994086 single base substitution C T intron_variant MELA-AU 6 151994159 151994159 single base substitution C T intron_variant MELA-AU 6 151994196 151994196 single base substitution C T intron_variant MELA-AU 6 151994416 151994416 single base substitution A G intron_variant MELA-AU 6 151994475 151994475 single base substitution C T intron_variant MELA-AU 6 151994483 151994483 single base substitution G A intron_variant MELA-AU 6 151994659 151994659 single base substitution C T intron_variant MELA-AU 6 151994936 151994936 single base substitution G T intron_variant MELA-AU 6 151995023 151995023 single base substitution A G intron_variant MELA-AU 6 151995326 151995326 single base substitution C T intron_variant MELA-AU 6 151995572 151995572 single base substitution G A intron_variant MELA-AU 6 151995805 151995805 single base substitution C T intron_variant MELA-AU 6 151996058 151996059 deletion of <=200bp TA - intron_variant MELA-AU 6 151996156 151996156 single base substitution G A intron_variant MELA-AU 6 151996457 151996457 single base substitution G A intron_variant MELA-AU 6 151996531 151996531 single base substitution G A intron_variant MELA-AU 6 151996582 151996582 single base substitution G A intron_variant MELA-AU 6 151996800 151996800 single base substitution C T intron_variant MELA-AU 6 151996851 151996851 single base substitution T C intron_variant MELA-AU 6 151997013 151997013 single base substitution G A intron_variant MELA-AU 6 151997037 151997037 single base substitution G A intron_variant MELA-AU 6 151997331 151997331 single base substitution C T intron_variant MELA-AU 6 151997432 151997432 single base substitution G A intron_variant MELA-AU 6 151997454 151997454 single base substitution T C intron_variant MELA-AU 6 151997653 151997653 single base substitution G A intron_variant MELA-AU 6 151997788 151997788 single base substitution C T intron_variant MELA-AU 6 151997842 151997842 single base substitution C T intron_variant MELA-AU 6 151997917 151997917 single base substitution G C intron_variant MELA-AU 6 151998391 151998391 single base substitution C T intron_variant MELA-AU 6 151998736 151998736 single base substitution C T intron_variant MELA-AU 6 151999101 151999101 single base substitution A G intron_variant MELA-AU 6 151999545 151999545 single base substitution T C intron_variant MELA-AU 6 151999785 151999786 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 151999805 151999805 single base substitution C T intron_variant MELA-AU 6 152000429 152000429 single base substitution T A intron_variant MELA-AU 6 152000595 152000595 single base substitution C T intron_variant MELA-AU 6 152000760 152000760 single base substitution C T intron_variant MELA-AU 6 152001302 152001302 single base substitution C T intron_variant MELA-AU 6 152001650 152001650 single base substitution C T intron_variant MELA-AU 6 152001651 152001651 single base substitution C T intron_variant MELA-AU 6 152001954 152001954 single base substitution G A intron_variant MELA-AU 6 152002001 152002001 single base substitution C T intron_variant MELA-AU 6 152002166 152002166 single base substitution A C intron_variant MELA-AU 6 152002318 152002318 single base substitution T A intron_variant MELA-AU 6 152002445 152002445 single base substitution G A intron_variant MELA-AU 6 152002857 152002857 single base substitution G T intron_variant MELA-AU 6 152003510 152003510 single base substitution C T intron_variant MELA-AU 6 152003807 152003807 single base substitution C T intron_variant MELA-AU 6 152003937 152003937 single base substitution G A intron_variant MELA-AU 6 152003959 152003959 single base substitution C T intron_variant MELA-AU 6 152003965 152003966 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 6 152005214 152005214 single base substitution T C intron_variant MELA-AU 6 152005492 152005492 single base substitution G A intron_variant MELA-AU 6 152005596 152005596 single base substitution C T intron_variant MELA-AU 6 152005874 152005874 single base substitution C T intron_variant MELA-AU 6 152006557 152006557 single base substitution C T intron_variant MELA-AU 6 152006929 152006929 single base substitution C T intron_variant MELA-AU 6 152006929 152006929 single base substitution C T upstream_gene_variant MELA-AU 6 152007015 152007015 single base substitution T C intron_variant MELA-AU 6 152007015 152007015 single base substitution T C upstream_gene_variant MELA-AU 6 152007436 152007436 single base substitution G A intron_variant MELA-AU 6 152007436 152007436 single base substitution G A upstream_gene_variant MELA-AU 6 152007446 152007446 single base substitution A T intron_variant MELA-AU 6 152007446 152007446 single base substitution A T upstream_gene_variant MELA-AU 6 152007492 152007492 single base substitution G A intron_variant MELA-AU 6 152007492 152007492 single base substitution G A upstream_gene_variant MELA-AU 6 152007569 152007569 single base substitution C G intron_variant MELA-AU 6 152007569 152007569 single base substitution C G upstream_gene_variant MELA-AU 6 152007724 152007724 single base substitution G A intron_variant MELA-AU 6 152007724 152007724 single base substitution G A upstream_gene_variant MELA-AU 6 152007984 152007984 single base substitution G A intron_variant MELA-AU 6 152007984 152007984 single base substitution G A upstream_gene_variant MELA-AU 6 152008134 152008134 single base substitution G A intron_variant MELA-AU 6 152008134 152008134 single base substitution G A upstream_gene_variant MELA-AU 6 152008372 152008372 single base substitution G A intron_variant MELA-AU 6 152008372 152008372 single base substitution G A upstream_gene_variant MELA-AU 6 152008442 152008442 single base substitution G A intron_variant MELA-AU 6 152008442 152008442 single base substitution G A upstream_gene_variant MELA-AU 6 152008506 152008506 single base substitution G A intron_variant MELA-AU 6 152008506 152008506 single base substitution G A upstream_gene_variant MELA-AU 6 152008583 152008583 single base substitution C T intron_variant MELA-AU 6 152008583 152008583 single base substitution C T upstream_gene_variant MELA-AU 6 152008669 152008669 insertion of <=200bp - G intron_variant MELA-AU 6 152008669 152008669 insertion of <=200bp - G upstream_gene_variant MELA-AU 6 152008973 152008973 single base substitution G A intron_variant MELA-AU 6 152008973 152008973 single base substitution G A upstream_gene_variant MELA-AU 6 152008982 152008982 single base substitution G A intron_variant MELA-AU 6 152008982 152008982 single base substitution G A upstream_gene_variant MELA-AU 6 152008991 152008991 single base substitution G A intron_variant MELA-AU 6 152008991 152008991 single base substitution G A upstream_gene_variant MELA-AU 6 152009233 152009233 single base substitution C T intron_variant MELA-AU 6 152009233 152009233 single base substitution C T upstream_gene_variant MELA-AU 6 152009352 152009352 single base substitution G A intron_variant MELA-AU 6 152009352 152009352 single base substitution G A upstream_gene_variant MELA-AU 6 152009760 152009760 single base substitution G A intron_variant MELA-AU 6 152009760 152009760 single base substitution G A upstream_gene_variant MELA-AU 6 152009883 152009883 single base substitution G A intron_variant MELA-AU 6 152009883 152009883 single base substitution G A upstream_gene_variant MELA-AU 6 152010106 152010106 single base substitution T A intron_variant MELA-AU 6 152010106 152010106 single base substitution T A upstream_gene_variant MELA-AU 6 152010968 152010968 single base substitution G A intron_variant MELA-AU 6 152010968 152010968 single base substitution G A upstream_gene_variant MELA-AU 6 152011221 152011221 single base substitution G A intron_variant MELA-AU 6 152011221 152011221 single base substitution G A upstream_gene_variant MELA-AU 6 152011964 152011964 single base substitution C T intron_variant MELA-AU 6 152012997 152012997 single base substitution G A intron_variant MELA-AU 6 152013037 152013037 single base substitution G A intron_variant MELA-AU 6 152013166 152013166 single base substitution A G intron_variant MELA-AU 6 152013377 152013378 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152013752 152013752 single base substitution A C intron_variant MELA-AU 6 152013935 152013935 single base substitution C T intron_variant MELA-AU 6 152015049 152015049 single base substitution G A intron_variant MELA-AU 6 152015086 152015096 deletion of <=200bp AGACCTGAGAT - intron_variant MELA-AU 6 152015493 152015493 single base substitution C T intron_variant MELA-AU 6 152015670 152015671 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152015705 152015719 deletion of <=200bp CTGAGGTCAAGAGTT - intron_variant MELA-AU 6 152015817 152015817 single base substitution G A intron_variant MELA-AU 6 152016337 152016337 single base substitution C T intron_variant MELA-AU 6 152016846 152016846 single base substitution A G intron_variant MELA-AU 6 152017124 152017124 single base substitution C T intron_variant MELA-AU 6 152017700 152017700 single base substitution C T intron_variant MELA-AU 6 152017844 152017844 single base substitution G A intron_variant MELA-AU 6 152018342 152018342 single base substitution G A intron_variant MELA-AU 6 152018408 152018408 single base substitution G A intron_variant MELA-AU 6 152018721 152018728 deletion of <=200bp ATGATCAT - intron_variant MELA-AU 6 152018834 152018834 single base substitution C T intron_variant MELA-AU 6 152018848 152018874 deletion of <=200bp TGGCATCTTTGGACTAGGGGAAATGTG - intron_variant MELA-AU 6 152018974 152018974 single base substitution C T intron_variant MELA-AU 6 152019326 152019326 single base substitution C T intron_variant MELA-AU 6 152019620 152019620 single base substitution C T intron_variant MELA-AU 6 152019756 152019756 single base substitution C T intron_variant MELA-AU 6 152019757 152019757 single base substitution C T intron_variant MELA-AU 6 152019762 152019762 single base substitution C T intron_variant MELA-AU 6 152020032 152020032 single base substitution C T intron_variant MELA-AU 6 152020383 152020383 single base substitution G A intron_variant MELA-AU 6 152020454 152020454 single base substitution C T intron_variant MELA-AU 6 152021670 152021670 single base substitution G A intron_variant MELA-AU 6 152022343 152022343 single base substitution G A intron_variant MELA-AU 6 152022643 152022643 single base substitution G A intron_variant MELA-AU 6 152022711 152022711 single base substitution C T intron_variant MELA-AU 6 152022780 152022780 single base substitution C T intron_variant MELA-AU 6 152023537 152023537 single base substitution C T intron_variant MELA-AU 6 152023632 152023632 single base substitution T G intron_variant MELA-AU 6 152023864 152023865 multiple base substitution (>=2bp and <=200bp) TA AT intron_variant MELA-AU 6 152024419 152024419 single base substitution C T intron_variant MELA-AU 6 152024552 152024552 single base substitution C T intron_variant MELA-AU 6 152025141 152025141 single base substitution C T intron_variant MELA-AU 6 152025979 152025979 single base substitution G A intron_variant MELA-AU 6 152026155 152026155 single base substitution G A intron_variant MELA-AU 6 152026265 152026265 single base substitution C T intron_variant MELA-AU 6 152026351 152026351 single base substitution T A intron_variant MELA-AU 6 152026401 152026401 single base substitution C T intron_variant MELA-AU 6 152026574 152026574 single base substitution G A intron_variant MELA-AU 6 152026595 152026595 single base substitution G A intron_variant MELA-AU 6 152026817 152026817 single base substitution C T intron_variant MELA-AU 6 152027220 152027220 single base substitution C T intron_variant MELA-AU 6 152027374 152027374 single base substitution G A intron_variant MELA-AU 6 152027440 152027440 single base substitution C T intron_variant MELA-AU 6 152027741 152027741 single base substitution C T intron_variant MELA-AU 6 152028224 152028224 single base substitution C T intron_variant MELA-AU 6 152028262 152028262 single base substitution C T intron_variant MELA-AU 6 152028361 152028361 single base substitution G A intron_variant MELA-AU 6 152028534 152028534 single base substitution C T intron_variant MELA-AU 6 152028783 152028783 single base substitution C T intron_variant MELA-AU 6 152028867 152028867 single base substitution C T intron_variant MELA-AU 6 152028934 152028934 single base substitution C T intron_variant MELA-AU 6 152029126 152029126 single base substitution C T intron_variant MELA-AU 6 152029138 152029138 single base substitution C T intron_variant MELA-AU 6 152029149 152029149 single base substitution C T intron_variant MELA-AU 6 152029828 152029829 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 152029856 152029856 single base substitution G A intron_variant MELA-AU 6 152030120 152030120 single base substitution A T intron_variant MELA-AU 6 152030247 152030247 single base substitution C T intron_variant MELA-AU 6 152030450 152030450 single base substitution C T intron_variant MELA-AU 6 152030740 152030740 single base substitution C T intron_variant MELA-AU 6 152031124 152031124 single base substitution G A intron_variant MELA-AU 6 152031403 152031403 single base substitution C T intron_variant MELA-AU 6 152031518 152031518 single base substitution G C intron_variant MELA-AU 6 152031725 152031725 single base substitution C A intron_variant MELA-AU 6 152031917 152031917 single base substitution C T intron_variant MELA-AU 6 152032244 152032244 single base substitution C T intron_variant MELA-AU 6 152032338 152032338 single base substitution C T intron_variant MELA-AU 6 152032597 152032597 single base substitution C T intron_variant MELA-AU 6 152032661 152032661 single base substitution C T intron_variant MELA-AU 6 152032904 152032904 single base substitution T G intron_variant MELA-AU 6 152033828 152033828 single base substitution C T intron_variant MELA-AU 6 152034046 152034046 single base substitution G A intron_variant MELA-AU 6 152034169 152034169 single base substitution G A intron_variant MELA-AU 6 152034485 152034485 single base substitution C T intron_variant MELA-AU 6 152034509 152034509 single base substitution C T intron_variant MELA-AU 6 152034537 152034537 single base substitution C T intron_variant MELA-AU 6 152034702 152034702 single base substitution G A intron_variant MELA-AU 6 152035094 152035094 single base substitution T C intron_variant MELA-AU 6 152035202 152035202 single base substitution T C intron_variant MELA-AU 6 152035271 152035271 single base substitution G C intron_variant MELA-AU 6 152035645 152035645 single base substitution C T intron_variant MELA-AU 6 152035686 152035691 deletion of <=200bp TAGCTC - intron_variant MELA-AU 6 152035864 152035864 single base substitution A T intron_variant MELA-AU 6 152036059 152036059 single base substitution C T intron_variant MELA-AU 6 152036141 152036141 single base substitution T C intron_variant MELA-AU 6 152036246 152036246 single base substitution G A intron_variant MELA-AU 6 152036415 152036415 single base substitution C T intron_variant MELA-AU 6 152036424 152036424 single base substitution C T intron_variant MELA-AU 6 152036872 152036872 single base substitution C T intron_variant MELA-AU 6 152037215 152037215 single base substitution T C intron_variant MELA-AU 6 152037382 152037382 single base substitution C T intron_variant MELA-AU 6 152037423 152037423 single base substitution C T intron_variant MELA-AU 6 152037468 152037468 single base substitution C T intron_variant MELA-AU 6 152037638 152037638 single base substitution C T intron_variant MELA-AU 6 152037962 152037962 single base substitution C T intron_variant MELA-AU 6 152038169 152038169 single base substitution G A intron_variant MELA-AU 6 152038217 152038217 single base substitution C T intron_variant MELA-AU 6 152038699 152038699 single base substitution C T intron_variant MELA-AU 6 152039130 152039130 single base substitution C T intron_variant MELA-AU 6 152039137 152039137 single base substitution C T intron_variant MELA-AU 6 152039215 152039215 single base substitution A T intron_variant MELA-AU 6 152039689 152039689 single base substitution C T intron_variant MELA-AU 6 152039879 152039879 single base substitution G A intron_variant MELA-AU 6 152040144 152040144 single base substitution C T intron_variant MELA-AU 6 152040301 152040301 single base substitution C T intron_variant MELA-AU 6 152040517 152040517 single base substitution C T intron_variant MELA-AU 6 152040530 152040530 single base substitution G A intron_variant MELA-AU 6 152041599 152041599 single base substitution C T intron_variant MELA-AU 6 152041692 152041692 single base substitution G A intron_variant MELA-AU 6 152041924 152041924 single base substitution T G intron_variant MELA-AU 6 152042550 152042550 single base substitution G A intron_variant MELA-AU 6 152042671 152042671 single base substitution G A intron_variant MELA-AU 6 152042870 152042870 single base substitution C T intron_variant MELA-AU 6 152042934 152042934 single base substitution A T intron_variant MELA-AU 6 152043111 152043111 single base substitution G A intron_variant MELA-AU 6 152043140 152043140 single base substitution T C intron_variant MELA-AU 6 152043251 152043251 single base substitution C A intron_variant MELA-AU 6 152043338 152043338 single base substitution G A intron_variant MELA-AU 6 152043452 152043452 single base substitution C T intron_variant MELA-AU 6 152043501 152043501 single base substitution C T intron_variant MELA-AU 6 152043664 152043664 single base substitution G A intron_variant MELA-AU 6 152044413 152044413 single base substitution C T intron_variant MELA-AU 6 152044635 152044635 single base substitution G A intron_variant MELA-AU 6 152044801 152044801 single base substitution C T intron_variant MELA-AU 6 152044807 152044807 single base substitution C T intron_variant MELA-AU 6 152045138 152045138 single base substitution G A intron_variant MELA-AU 6 152045261 152045261 single base substitution G A intron_variant MELA-AU 6 152045393 152045393 single base substitution G A intron_variant MELA-AU 6 152045412 152045412 single base substitution C T intron_variant MELA-AU 6 152045413 152045413 single base substitution C T intron_variant MELA-AU 6 152045470 152045470 single base substitution C T intron_variant MELA-AU 6 152045478 152045478 single base substitution C T intron_variant MELA-AU 6 152045588 152045588 single base substitution G A intron_variant MELA-AU 6 152046170 152046170 single base substitution C T intron_variant MELA-AU 6 152046340 152046340 single base substitution C T intron_variant MELA-AU 6 152046565 152046565 single base substitution G A intron_variant MELA-AU 6 152046671 152046671 single base substitution G A intron_variant MELA-AU 6 152046852 152046852 single base substitution T A intron_variant MELA-AU 6 152047418 152047418 single base substitution C T intron_variant MELA-AU 6 152047423 152047423 single base substitution C T intron_variant MELA-AU 6 152047559 152047559 single base substitution C T intron_variant MELA-AU 6 152047602 152047602 single base substitution G A intron_variant MELA-AU 6 152047677 152047677 single base substitution T G intron_variant MELA-AU 6 152047706 152047706 single base substitution C T intron_variant MELA-AU 6 152047790 152047790 single base substitution C T intron_variant MELA-AU 6 152048427 152048428 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152048535 152048535 single base substitution C T intron_variant MELA-AU 6 152048607 152048607 single base substitution G A intron_variant MELA-AU 6 152048642 152048642 single base substitution C T intron_variant MELA-AU 6 152048717 152048717 single base substitution G A intron_variant MELA-AU 6 152048943 152048943 single base substitution C T intron_variant MELA-AU 6 152049056 152049056 single base substitution A G intron_variant MELA-AU 6 152049104 152049104 single base substitution C T intron_variant MELA-AU 6 152049336 152049336 single base substitution G A intron_variant MELA-AU 6 152049438 152049438 single base substitution C T intron_variant MELA-AU 6 152049495 152049495 single base substitution C T intron_variant MELA-AU 6 152050249 152050249 single base substitution G A intron_variant MELA-AU 6 152050652 152050652 single base substitution C T intron_variant MELA-AU 6 152050963 152050963 single base substitution C T intron_variant MELA-AU 6 152051259 152051259 single base substitution G A intron_variant MELA-AU 6 152051308 152051309 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU 6 152051331 152051331 single base substitution C T intron_variant MELA-AU 6 152051369 152051369 single base substitution C T intron_variant MELA-AU 6 152051466 152051466 single base substitution G A intron_variant MELA-AU 6 152051471 152051471 single base substitution C T intron_variant MELA-AU 6 152051502 152051502 single base substitution C T intron_variant MELA-AU 6 152051551 152051552 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152051620 152051620 single base substitution C T intron_variant MELA-AU 6 152051703 152051703 single base substitution C A intron_variant MELA-AU 6 152051962 152051962 single base substitution C T intron_variant MELA-AU 6 152052050 152052050 single base substitution T C intron_variant MELA-AU 6 152052089 152052089 single base substitution A C intron_variant MELA-AU 6 152052177 152052177 single base substitution G A intron_variant MELA-AU 6 152052319 152052319 single base substitution C T intron_variant MELA-AU 6 152052415 152052415 single base substitution C T intron_variant MELA-AU 6 152052791 152052791 single base substitution T G intron_variant MELA-AU 6 152053088 152053088 single base substitution G A intron_variant MELA-AU 6 152053205 152053205 single base substitution C T intron_variant MELA-AU 6 152053357 152053358 multiple base substitution (>=2bp and <=200bp) CA AT intron_variant MELA-AU 6 152053523 152053523 single base substitution A G intron_variant MELA-AU 6 152053797 152053797 single base substitution C T intron_variant MELA-AU 6 152054148 152054149 multiple base substitution (>=2bp and <=200bp) CA AC intron_variant MELA-AU 6 152054256 152054256 single base substitution C T intron_variant MELA-AU 6 152054325 152054325 single base substitution G A intron_variant MELA-AU 6 152054336 152054336 single base substitution G A intron_variant MELA-AU 6 152054425 152054425 single base substitution C T intron_variant MELA-AU 6 152054566 152054566 single base substitution G A intron_variant MELA-AU 6 152054634 152054634 single base substitution C T intron_variant MELA-AU 6 152054721 152054721 single base substitution G A intron_variant MELA-AU 6 152055042 152055042 single base substitution C T intron_variant MELA-AU 6 152055181 152055181 single base substitution C A intron_variant MELA-AU 6 152055235 152055235 single base substitution G A intron_variant MELA-AU 6 152055334 152055334 single base substitution T A intron_variant MELA-AU 6 152055493 152055493 single base substitution G A intron_variant MELA-AU 6 152055628 152055628 single base substitution C T intron_variant MELA-AU 6 152055653 152055653 single base substitution C T intron_variant MELA-AU 6 152055821 152055821 single base substitution G A intron_variant MELA-AU 6 152055951 152055951 single base substitution T C intron_variant MELA-AU 6 152056009 152056009 single base substitution G C intron_variant MELA-AU 6 152056372 152056372 single base substitution C T intron_variant MELA-AU 6 152056501 152056501 single base substitution A G intron_variant MELA-AU 6 152056593 152056593 single base substitution C T intron_variant MELA-AU 6 152056711 152056711 single base substitution C T intron_variant MELA-AU 6 152056828 152056828 single base substitution C T intron_variant MELA-AU 6 152057075 152057075 single base substitution T C intron_variant MELA-AU 6 152057198 152057198 single base substitution C T intron_variant MELA-AU 6 152057314 152057314 single base substitution C T intron_variant MELA-AU 6 152057630 152057631 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152057933 152057933 single base substitution G A intron_variant MELA-AU 6 152058467 152058467 single base substitution C T intron_variant MELA-AU 6 152058506 152058506 single base substitution C T intron_variant MELA-AU 6 152058643 152058643 single base substitution G A intron_variant MELA-AU 6 152058814 152058814 single base substitution T A intron_variant MELA-AU 6 152058817 152058817 single base substitution C T intron_variant MELA-AU 6 152059215 152059215 single base substitution C T intron_variant MELA-AU 6 152059222 152059222 single base substitution C T intron_variant MELA-AU 6 152059462 152059462 single base substitution A G intron_variant MELA-AU 6 152059773 152059773 single base substitution C T intron_variant MELA-AU 6 152060622 152060622 single base substitution C T intron_variant MELA-AU 6 152060886 152060886 single base substitution C T intron_variant MELA-AU 6 152061960 152061960 single base substitution C T intron_variant MELA-AU 6 152061975 152061975 single base substitution T A intron_variant MELA-AU 6 152062364 152062364 single base substitution C T intron_variant MELA-AU 6 152062499 152062499 single base substitution C T intron_variant MELA-AU 6 152062677 152062678 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 152063251 152063251 single base substitution C T intron_variant MELA-AU 6 152063368 152063368 single base substitution C T intron_variant MELA-AU 6 152063524 152063524 single base substitution C T intron_variant MELA-AU 6 152064409 152064409 single base substitution C T intron_variant MELA-AU 6 152064466 152064466 single base substitution C T intron_variant MELA-AU 6 152064761 152064761 single base substitution C T intron_variant MELA-AU 6 152065056 152065056 single base substitution C T intron_variant MELA-AU 6 152065787 152065787 single base substitution C T intron_variant MELA-AU 6 152065876 152065876 single base substitution C T intron_variant MELA-AU 6 152065916 152065916 single base substitution G T intron_variant MELA-AU 6 152065926 152065926 single base substitution C T intron_variant MELA-AU 6 152065961 152065961 single base substitution A G intron_variant MELA-AU 6 152066112 152066112 single base substitution C T intron_variant MELA-AU 6 152066158 152066158 single base substitution C T intron_variant MELA-AU 6 152066281 152066281 single base substitution T C intron_variant MELA-AU 6 152066317 152066317 single base substitution C T intron_variant MELA-AU 6 152066415 152066415 single base substitution C T intron_variant MELA-AU 6 152066714 152066714 single base substitution A G intron_variant MELA-AU 6 152066832 152066832 single base substitution C T intron_variant MELA-AU 6 152067322 152067322 single base substitution C A intron_variant MELA-AU 6 152067383 152067383 single base substitution G A intron_variant MELA-AU 6 152067811 152067811 single base substitution G A intron_variant MELA-AU 6 152067971 152067971 single base substitution C T intron_variant MELA-AU 6 152068095 152068095 single base substitution C T intron_variant MELA-AU 6 152068175 152068175 single base substitution C T intron_variant MELA-AU 6 152068339 152068339 single base substitution C T intron_variant MELA-AU 6 152068424 152068424 single base substitution G A intron_variant MELA-AU 6 152069040 152069040 single base substitution C T intron_variant MELA-AU 6 152069573 152069573 single base substitution T C intron_variant MELA-AU 6 152069766 152069766 single base substitution G A intron_variant MELA-AU 6 152069801 152069801 single base substitution C T intron_variant MELA-AU 6 152070095 152070095 single base substitution C T intron_variant MELA-AU 6 152070908 152070908 single base substitution A T intron_variant MELA-AU 6 152070926 152070926 single base substitution C T intron_variant MELA-AU 6 152071872 152071872 single base substitution G A intron_variant MELA-AU 6 152072384 152072384 single base substitution G A intron_variant MELA-AU 6 152072644 152072644 single base substitution T C intron_variant MELA-AU 6 152074071 152074071 single base substitution C T intron_variant MELA-AU 6 152074072 152074072 single base substitution C T intron_variant MELA-AU 6 152074588 152074588 single base substitution G A intron_variant MELA-AU 6 152074777 152074777 single base substitution C T intron_variant MELA-AU 6 152074879 152074879 single base substitution G A intron_variant MELA-AU 6 152075045 152075045 single base substitution G A intron_variant MELA-AU 6 152075300 152075300 single base substitution G A intron_variant MELA-AU 6 152075505 152075505 single base substitution T A intron_variant MELA-AU 6 152075576 152075576 single base substitution C T intron_variant MELA-AU 6 152075960 152075960 single base substitution C T intron_variant MELA-AU 6 152076205 152076205 single base substitution C T intron_variant MELA-AU 6 152076841 152076841 single base substitution C T intron_variant MELA-AU 6 152076960 152076960 single base substitution T A intron_variant MELA-AU 6 152077077 152077077 single base substitution C T intron_variant MELA-AU 6 152078155 152078155 single base substitution G A intron_variant MELA-AU 6 152078271 152078271 single base substitution T C intron_variant MELA-AU 6 152078617 152078617 single base substitution C T intron_variant MELA-AU 6 152079052 152079052 single base substitution C T intron_variant MELA-AU 6 152079562 152079562 single base substitution C T intron_variant MELA-AU 6 152079596 152079596 single base substitution C T intron_variant MELA-AU 6 152080293 152080293 single base substitution C T intron_variant MELA-AU 6 152080838 152080838 single base substitution C T intron_variant MELA-AU 6 152081201 152081201 single base substitution G A intron_variant MELA-AU 6 152081266 152081266 single base substitution C T intron_variant MELA-AU 6 152081394 152081394 single base substitution C T intron_variant MELA-AU 6 152083243 152083243 single base substitution T G intron_variant MELA-AU 6 152084013 152084013 single base substitution C T intron_variant MELA-AU 6 152084029 152084029 single base substitution C T intron_variant MELA-AU 6 152084359 152084359 single base substitution G A intron_variant MELA-AU 6 152084614 152084614 single base substitution A G intron_variant MELA-AU 6 152084654 152084654 single base substitution C T intron_variant MELA-AU 6 152085617 152085617 single base substitution G A intron_variant MELA-AU 6 152085815 152085815 single base substitution C T intron_variant MELA-AU 6 152085964 152085964 single base substitution G A intron_variant MELA-AU 6 152086233 152086233 single base substitution T C intron_variant MELA-AU 6 152087079 152087079 single base substitution C T intron_variant MELA-AU 6 152088998 152088998 single base substitution G A intron_variant MELA-AU 6 152089478 152089478 single base substitution C T intron_variant MELA-AU 6 152089713 152089713 single base substitution C T intron_variant MELA-AU 6 152089897 152089897 single base substitution G A intron_variant MELA-AU 6 152090096 152090096 single base substitution C T intron_variant MELA-AU 6 152090493 152090493 single base substitution C T intron_variant MELA-AU 6 152090987 152090987 single base substitution G A intron_variant MELA-AU 6 152091058 152091058 single base substitution G A intron_variant MELA-AU 6 152091077 152091077 single base substitution C T intron_variant MELA-AU 6 152092020 152092020 single base substitution A T intron_variant MELA-AU 6 152092056 152092056 single base substitution A T intron_variant MELA-AU 6 152092205 152092205 single base substitution C T intron_variant MELA-AU 6 152092213 152092213 single base substitution A T intron_variant MELA-AU 6 152092303 152092303 single base substitution G A intron_variant MELA-AU 6 152092893 152092893 single base substitution C T intron_variant MELA-AU 6 152093110 152093110 single base substitution C T intron_variant MELA-AU 6 152093994 152093994 single base substitution C T intron_variant MELA-AU 6 152094186 152094186 single base substitution G A intron_variant MELA-AU 6 152094289 152094289 single base substitution G A intron_variant MELA-AU 6 152094372 152094372 single base substitution G A intron_variant MELA-AU 6 152094943 152094943 single base substitution C T intron_variant MELA-AU 6 152095135 152095135 single base substitution G A intron_variant MELA-AU 6 152095233 152095233 single base substitution G A intron_variant MELA-AU 6 152095463 152095463 single base substitution G A intron_variant MELA-AU 6 152095505 152095505 single base substitution C T intron_variant MELA-AU 6 152095589 152095589 single base substitution C T intron_variant MELA-AU 6 152096095 152096095 single base substitution C T intron_variant MELA-AU 6 152096191 152096191 single base substitution G A intron_variant MELA-AU 6 152096213 152096213 single base substitution C T intron_variant MELA-AU 6 152096289 152096289 single base substitution G A intron_variant MELA-AU 6 152096412 152096412 single base substitution C T intron_variant MELA-AU 6 152096491 152096491 single base substitution C T intron_variant MELA-AU 6 152096557 152096557 single base substitution G T intron_variant MELA-AU 6 152096858 152096858 single base substitution G A intron_variant MELA-AU 6 152096899 152096899 single base substitution C T intron_variant MELA-AU 6 152097119 152097119 single base substitution C T intron_variant MELA-AU 6 152097151 152097151 single base substitution C T intron_variant MELA-AU 6 152097505 152097505 single base substitution G A intron_variant MELA-AU 6 152097640 152097640 single base substitution C T intron_variant MELA-AU 6 152097798 152097798 single base substitution C T intron_variant MELA-AU 6 152097979 152097979 single base substitution A C intron_variant MELA-AU 6 152098343 152098343 single base substitution C T intron_variant MELA-AU 6 152098479 152098479 single base substitution C T intron_variant MELA-AU 6 152098495 152098495 single base substitution C T intron_variant MELA-AU 6 152098611 152098611 single base substitution G A intron_variant MELA-AU 6 152098887 152098887 single base substitution G A intron_variant MELA-AU 6 152099083 152099083 single base substitution G A intron_variant MELA-AU 6 152099241 152099241 single base substitution C T intron_variant MELA-AU 6 152099273 152099273 single base substitution C T intron_variant MELA-AU 6 152099369 152099369 single base substitution C T intron_variant MELA-AU 6 152099476 152099476 single base substitution A G intron_variant MELA-AU 6 152099644 152099644 single base substitution A C intron_variant MELA-AU 6 152100003 152100003 single base substitution C T intron_variant MELA-AU 6 152100312 152100312 single base substitution T G intron_variant MELA-AU 6 152101439 152101439 single base substitution C T intron_variant MELA-AU 6 152101619 152101619 single base substitution G A intron_variant MELA-AU 6 152102248 152102248 single base substitution C T intron_variant MELA-AU 6 152102836 152102836 single base substitution C T intron_variant MELA-AU 6 152103145 152103145 single base substitution C T intron_variant MELA-AU 6 152103613 152103613 single base substitution C T intron_variant MELA-AU 6 152103632 152103632 single base substitution G A intron_variant MELA-AU 6 152103967 152103967 single base substitution C G intron_variant MELA-AU 6 152104758 152104758 single base substitution G A intron_variant MELA-AU 6 152104775 152104775 single base substitution C T intron_variant MELA-AU 6 152104940 152104940 single base substitution C T intron_variant MELA-AU 6 152105120 152105120 single base substitution C T intron_variant MELA-AU 6 152105316 152105316 single base substitution G A intron_variant MELA-AU 6 152105614 152105614 single base substitution C T intron_variant MELA-AU 6 152106596 152106596 single base substitution C T intron_variant MELA-AU 6 152107363 152107363 single base substitution C T intron_variant MELA-AU 6 152108027 152108027 single base substitution C T intron_variant MELA-AU 6 152108068 152108068 single base substitution C T intron_variant MELA-AU 6 152108463 152108463 single base substitution C T intron_variant MELA-AU 6 152108698 152108698 single base substitution C T intron_variant MELA-AU 6 152108750 152108750 single base substitution G A intron_variant MELA-AU 6 152109673 152109673 single base substitution G A intron_variant MELA-AU 6 152109966 152109966 single base substitution C T intron_variant MELA-AU 6 152109988 152109988 single base substitution C T intron_variant MELA-AU 6 152110117 152110117 single base substitution C T intron_variant MELA-AU 6 152110673 152110673 single base substitution C T intron_variant MELA-AU 6 152111157 152111157 single base substitution C T intron_variant MELA-AU 6 152111216 152111216 single base substitution G A intron_variant MELA-AU 6 152111281 152111281 single base substitution C T intron_variant MELA-AU 6 152111471 152111471 single base substitution C T intron_variant MELA-AU 6 152111808 152111815 deletion of <=200bp CTAAATAG - intron_variant MELA-AU 6 152111928 152111928 single base substitution A T intron_variant MELA-AU 6 152112373 152112373 single base substitution C T intron_variant MELA-AU 6 152112378 152112379 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 6 152112427 152112427 single base substitution C T intron_variant MELA-AU 6 152112504 152112504 single base substitution G A intron_variant MELA-AU 6 152112616 152112616 single base substitution C T intron_variant MELA-AU 6 152112667 152112667 single base substitution G A intron_variant MELA-AU 6 152112895 152112895 single base substitution G A intron_variant MELA-AU 6 152113024 152113025 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 6 152113042 152113042 single base substitution C T intron_variant MELA-AU 6 152113521 152113521 deletion of <=200bp T - intron_variant MELA-AU 6 152113670 152113670 single base substitution G A intron_variant MELA-AU 6 152114441 152114441 single base substitution C T intron_variant MELA-AU 6 152114802 152114802 single base substitution C T intron_variant MELA-AU 6 152114984 152114984 single base substitution C T intron_variant MELA-AU 6 152115165 152115165 single base substitution C T intron_variant MELA-AU 6 152115272 152115272 single base substitution T C intron_variant MELA-AU 6 152115528 152115528 single base substitution T C intron_variant MELA-AU 6 152115599 152115599 single base substitution A T intron_variant MELA-AU 6 152115645 152115645 single base substitution G A intron_variant MELA-AU 6 152115699 152115699 single base substitution C T intron_variant MELA-AU 6 152116196 152116197 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152116693 152116693 single base substitution T C intron_variant MELA-AU 6 152116739 152116739 single base substitution G A intron_variant MELA-AU 6 152117215 152117215 single base substitution G A intron_variant MELA-AU 6 152117552 152117552 single base substitution G A intron_variant MELA-AU 6 152117802 152117802 single base substitution A T intron_variant MELA-AU 6 152118074 152118074 single base substitution C T intron_variant MELA-AU 6 152118378 152118378 single base substitution G A intron_variant MELA-AU 6 152119083 152119083 single base substitution G A intron_variant MELA-AU 6 152119815 152119815 single base substitution G A intron_variant MELA-AU 6 152120630 152120630 single base substitution G A intron_variant MELA-AU 6 152120630 152120630 single base substitution G A upstream_gene_variant MELA-AU 6 152120631 152120631 single base substitution A T intron_variant MELA-AU 6 152120631 152120631 single base substitution A T upstream_gene_variant MELA-AU 6 152120634 152120634 single base substitution G A intron_variant MELA-AU 6 152120634 152120634 single base substitution G A upstream_gene_variant MELA-AU 6 152120660 152120660 single base substitution G C intron_variant MELA-AU 6 152120660 152120660 single base substitution G C upstream_gene_variant MELA-AU 6 152120908 152120908 single base substitution C T intron_variant MELA-AU 6 152120908 152120908 single base substitution C T upstream_gene_variant MELA-AU 6 152121029 152121029 single base substitution G A intron_variant MELA-AU 6 152121029 152121029 single base substitution G A upstream_gene_variant MELA-AU 6 152121549 152121549 single base substitution C T intron_variant MELA-AU 6 152121549 152121549 single base substitution C T upstream_gene_variant MELA-AU 6 152121694 152121694 single base substitution C T intron_variant MELA-AU 6 152121694 152121694 single base substitution C T upstream_gene_variant MELA-AU 6 152122478 152122478 single base substitution G A intron_variant MELA-AU 6 152122478 152122478 single base substitution G A upstream_gene_variant MELA-AU 6 152122481 152122481 single base substitution C T intron_variant MELA-AU 6 152122481 152122481 single base substitution C T upstream_gene_variant MELA-AU 6 152122499 152122499 single base substitution G A intron_variant MELA-AU 6 152122499 152122499 single base substitution G A upstream_gene_variant MELA-AU 6 152122571 152122571 single base substitution C T intron_variant MELA-AU 6 152122571 152122571 single base substitution C T upstream_gene_variant MELA-AU 6 152122704 152122704 single base substitution G A intron_variant MELA-AU 6 152122704 152122704 single base substitution G A upstream_gene_variant MELA-AU 6 152122736 152122736 single base substitution C T intron_variant MELA-AU 6 152122736 152122736 single base substitution C T upstream_gene_variant MELA-AU 6 152123241 152123241 single base substitution C T intron_variant MELA-AU 6 152123241 152123241 single base substitution C T upstream_gene_variant MELA-AU 6 152123416 152123416 single base substitution T C intron_variant MELA-AU 6 152123416 152123416 single base substitution T C upstream_gene_variant MELA-AU 6 152123610 152123610 single base substitution G A intron_variant MELA-AU 6 152123610 152123610 single base substitution G A upstream_gene_variant MELA-AU 6 152124009 152124009 single base substitution C T intron_variant MELA-AU 6 152124009 152124009 single base substitution C T upstream_gene_variant MELA-AU 6 152124292 152124292 single base substitution C T intron_variant MELA-AU 6 152124292 152124292 single base substitution C T upstream_gene_variant MELA-AU 6 152124293 152124293 single base substitution C T intron_variant MELA-AU 6 152124293 152124293 single base substitution C T upstream_gene_variant MELA-AU 6 152124613 152124613 single base substitution C T intron_variant MELA-AU 6 152124613 152124613 single base substitution C T upstream_gene_variant MELA-AU 6 152124637 152124637 single base substitution C T intron_variant MELA-AU 6 152124637 152124637 single base substitution C T upstream_gene_variant MELA-AU 6 152124805 152124805 single base substitution C T intron_variant MELA-AU 6 152124805 152124805 single base substitution C T upstream_gene_variant MELA-AU 6 152124847 152124847 single base substitution G A intron_variant MELA-AU 6 152124847 152124847 single base substitution G A upstream_gene_variant MELA-AU 6 152125028 152125028 single base substitution C T intron_variant MELA-AU 6 152125028 152125028 single base substitution C T upstream_gene_variant MELA-AU 6 152125115 152125115 single base substitution G A intron_variant MELA-AU 6 152125115 152125115 single base substitution G A upstream_gene_variant MELA-AU 6 152125145 152125145 single base substitution C T intron_variant MELA-AU 6 152125145 152125145 single base substitution C T upstream_gene_variant MELA-AU 6 152125192 152125192 single base substitution G A intron_variant MELA-AU 6 152125192 152125192 single base substitution G A upstream_gene_variant MELA-AU 6 152126251 152126251 single base substitution G A 5_prime_UTR_variant MELA-AU 6 152126251 152126251 single base substitution G A intron_variant MELA-AU 6 152126251 152126251 single base substitution G A upstream_gene_variant MELA-AU 6 152126319 152126319 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 6 152126319 152126319 single base substitution C T intron_variant MELA-AU 6 152126319 152126319 single base substitution C T upstream_gene_variant MELA-AU 6 152126408 152126408 single base substitution C T 5_prime_UTR_variant MELA-AU 6 152126408 152126408 single base substitution C T intron_variant MELA-AU 6 152126408 152126408 single base substitution C T upstream_gene_variant MELA-AU 6 152126817 152126817 single base substitution C T 5_prime_UTR_variant MELA-AU 6 152126817 152126817 single base substitution C T intron_variant MELA-AU 6 152126817 152126817 single base substitution C T upstream_gene_variant MELA-AU 6 152126855 152126855 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 6 152126855 152126855 single base substitution C T intron_variant MELA-AU 6 152126855 152126855 single base substitution C T upstream_gene_variant MELA-AU 6 152127502 152127502 single base substitution C T intron_variant MELA-AU 6 152127502 152127502 single base substitution C T upstream_gene_variant MELA-AU 6 152128179 152128179 single base substitution G A intron_variant MELA-AU 6 152128179 152128179 single base substitution G A upstream_gene_variant MELA-AU 6 152128433 152128433 single base substitution G A 5_prime_UTR_variant MELA-AU 6 152128433 152128433 single base substitution G A intron_variant MELA-AU 6 152128433 152128433 single base substitution G A upstream_gene_variant MELA-AU 6 152128527 152128527 single base substitution C T 5_prime_UTR_variant MELA-AU 6 152128527 152128527 single base substitution C T intron_variant MELA-AU 6 152128527 152128527 single base substitution C T upstream_gene_variant MELA-AU 6 152129226 152129226 single base substitution A T downstream_gene_variant MELA-AU 6 152129226 152129226 single base substitution A T missense_variant Y60F 179A>T MELA-AU 6 152129226 152129226 single base substitution A T upstream_gene_variant MELA-AU 6 152129270 152129270 single base substitution C T downstream_gene_variant MELA-AU 6 152129270 152129270 single base substitution C T exon_variant MELA-AU 6 152129270 152129270 single base substitution C T stop_gained Q75* 223C>T MELA-AU 6 152129270 152129270 single base substitution C T upstream_gene_variant MELA-AU 6 152130282 152130282 single base substitution C T 5_prime_UTR_variant MELA-AU 6 152130282 152130282 single base substitution C T downstream_gene_variant MELA-AU 6 152130282 152130282 single base substitution C T intron_variant MELA-AU 6 152130434 152130434 single base substitution C T downstream_gene_variant MELA-AU 6 152130434 152130434 single base substitution C T intron_variant MELA-AU 6 152130579 152130579 single base substitution C T downstream_gene_variant MELA-AU 6 152130579 152130579 single base substitution C T intron_variant MELA-AU 6 152130988 152130988 single base substitution G A downstream_gene_variant MELA-AU 6 152130988 152130988 single base substitution G A intron_variant MELA-AU 6 152132067 152132067 single base substitution C T downstream_gene_variant MELA-AU 6 152132067 152132067 single base substitution C T intron_variant MELA-AU 6 152132245 152132253 deletion of <=200bp TTCTTCCAT - downstream_gene_variant MELA-AU 6 152132245 152132253 deletion of <=200bp TTCTTCCAT - exon_variant MELA-AU 6 152132245 152132253 deletion of <=200bp TTCTTCCAT - intron_variant MELA-AU 6 152132719 152132719 single base substitution C T downstream_gene_variant MELA-AU 6 152132719 152132719 single base substitution C T intron_variant MELA-AU 6 152132973 152132973 single base substitution G T downstream_gene_variant MELA-AU 6 152132973 152132973 single base substitution G T intron_variant MELA-AU 6 152132991 152132991 single base substitution C T downstream_gene_variant MELA-AU 6 152132991 152132991 single base substitution C T intron_variant MELA-AU 6 152133520 152133520 single base substitution T C downstream_gene_variant MELA-AU 6 152133520 152133520 single base substitution T C intron_variant MELA-AU 6 152133743 152133743 single base substitution C T downstream_gene_variant MELA-AU 6 152133743 152133743 single base substitution C T intron_variant MELA-AU 6 152134028 152134028 single base substitution G A downstream_gene_variant MELA-AU 6 152134028 152134028 single base substitution G A intron_variant MELA-AU 6 152134054 152134054 single base substitution G A downstream_gene_variant MELA-AU 6 152134054 152134054 single base substitution G A intron_variant MELA-AU 6 152134531 152134531 single base substitution G A downstream_gene_variant MELA-AU 6 152134531 152134531 single base substitution G A intron_variant MELA-AU 6 152134778 152134778 single base substitution A G downstream_gene_variant MELA-AU 6 152134778 152134778 single base substitution A G intron_variant MELA-AU 6 152134920 152134920 single base substitution C T downstream_gene_variant MELA-AU 6 152134920 152134920 single base substitution C T intron_variant MELA-AU 6 152135003 152135003 single base substitution C T downstream_gene_variant MELA-AU 6 152135003 152135003 single base substitution C T intron_variant MELA-AU 6 152135118 152135118 single base substitution T G downstream_gene_variant MELA-AU 6 152135118 152135118 single base substitution T G intron_variant MELA-AU 6 152135273 152135273 single base substitution C T downstream_gene_variant MELA-AU 6 152135273 152135273 single base substitution C T intron_variant MELA-AU 6 152135321 152135321 single base substitution C T downstream_gene_variant MELA-AU 6 152135321 152135321 single base substitution C T intron_variant MELA-AU 6 152135657 152135657 single base substitution G A downstream_gene_variant MELA-AU 6 152135657 152135657 single base substitution G A intron_variant MELA-AU 6 152135690 152135690 single base substitution C T downstream_gene_variant MELA-AU 6 152135690 152135690 single base substitution C T intron_variant MELA-AU 6 152135814 152135814 single base substitution C T downstream_gene_variant MELA-AU 6 152135814 152135814 single base substitution C T intron_variant MELA-AU 6 152135870 152135870 single base substitution C T downstream_gene_variant MELA-AU 6 152135870 152135870 single base substitution C T intron_variant MELA-AU 6 152136047 152136047 single base substitution C A downstream_gene_variant MELA-AU 6 152136047 152136047 single base substitution C A intron_variant MELA-AU 6 152136318 152136318 single base substitution C T downstream_gene_variant MELA-AU 6 152136318 152136318 single base substitution C T intron_variant MELA-AU 6 152136446 152136446 single base substitution G A downstream_gene_variant MELA-AU 6 152136446 152136446 single base substitution G A intron_variant MELA-AU 6 152136523 152136523 single base substitution C T downstream_gene_variant MELA-AU 6 152136523 152136523 single base substitution C T intron_variant MELA-AU 6 152136575 152136575 single base substitution A C downstream_gene_variant MELA-AU 6 152136575 152136575 single base substitution A C intron_variant MELA-AU 6 152136825 152136825 single base substitution C T downstream_gene_variant MELA-AU 6 152136825 152136825 single base substitution C T intron_variant MELA-AU 6 152137312 152137312 single base substitution C T downstream_gene_variant MELA-AU 6 152137312 152137312 single base substitution C T intron_variant MELA-AU 6 152137332 152137332 single base substitution C T downstream_gene_variant MELA-AU 6 152137332 152137332 single base substitution C T intron_variant MELA-AU 6 152137558 152137558 single base substitution C T intron_variant MELA-AU 6 152137652 152137652 single base substitution C T intron_variant MELA-AU 6 152137720 152137720 single base substitution C T intron_variant MELA-AU 6 152137821 152137821 single base substitution C T intron_variant MELA-AU 6 152137940 152137940 single base substitution G A intron_variant MELA-AU 6 152137974 152137974 single base substitution C T intron_variant MELA-AU 6 152137989 152137989 single base substitution C A intron_variant MELA-AU 6 152138153 152138153 single base substitution G A intron_variant MELA-AU 6 152138301 152138301 single base substitution G A intron_variant MELA-AU 6 152138509 152138509 single base substitution T C intron_variant MELA-AU 6 152138525 152138525 single base substitution G A intron_variant MELA-AU 6 152138887 152138888 multiple base substitution (>=2bp and <=200bp) CG TA intron_variant MELA-AU 6 152138888 152138888 single base substitution G A intron_variant MELA-AU 6 152139166 152139166 single base substitution C T intron_variant MELA-AU 6 152139326 152139326 single base substitution C T intron_variant MELA-AU 6 152140245 152140245 single base substitution C T intron_variant MELA-AU 6 152140584 152140584 single base substitution C T intron_variant MELA-AU 6 152140611 152140611 single base substitution C T intron_variant MELA-AU 6 152140748 152140748 single base substitution C T intron_variant MELA-AU 6 152140828 152140828 single base substitution C T intron_variant MELA-AU 6 152141059 152141059 single base substitution G A intron_variant MELA-AU 6 152141692 152141692 single base substitution G A intron_variant MELA-AU 6 152142121 152142121 single base substitution C T intron_variant MELA-AU 6 152142163 152142163 single base substitution C T intron_variant MELA-AU 6 152142232 152142232 single base substitution C T intron_variant MELA-AU 6 152142234 152142234 single base substitution C T intron_variant MELA-AU 6 152142369 152142369 single base substitution C T intron_variant MELA-AU 6 152142553 152142553 single base substitution C T intron_variant MELA-AU 6 152142581 152142581 single base substitution C T intron_variant MELA-AU 6 152143453 152143453 single base substitution C T intron_variant MELA-AU 6 152143517 152143517 single base substitution C T intron_variant MELA-AU 6 152143782 152143782 single base substitution G A intron_variant MELA-AU 6 152144020 152144020 single base substitution A G intron_variant MELA-AU 6 152144177 152144177 single base substitution C T intron_variant MELA-AU 6 152144183 152144183 single base substitution A T intron_variant MELA-AU 6 152144217 152144217 single base substitution T C intron_variant MELA-AU 6 152144317 152144317 single base substitution G A intron_variant MELA-AU 6 152144417 152144417 single base substitution G T intron_variant MELA-AU 6 152144666 152144666 single base substitution T A intron_variant MELA-AU 6 152144755 152144755 single base substitution C T intron_variant MELA-AU 6 152144831 152144831 single base substitution C T intron_variant MELA-AU 6 152144896 152144896 single base substitution G A intron_variant MELA-AU 6 152145095 152145095 single base substitution G A intron_variant MELA-AU 6 152145648 152145648 single base substitution T A intron_variant MELA-AU 6 152145801 152145801 single base substitution G A intron_variant MELA-AU 6 152146055 152146055 single base substitution C T intron_variant MELA-AU 6 152146171 152146171 single base substitution G A intron_variant MELA-AU 6 152146629 152146629 single base substitution G A intron_variant MELA-AU 6 152148058 152148059 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 6 152148338 152148338 single base substitution C T intron_variant MELA-AU 6 152148473 152148473 single base substitution C T intron_variant MELA-AU 6 152148886 152148886 single base substitution C T intron_variant MELA-AU 6 152149310 152149310 single base substitution A T intron_variant MELA-AU 6 152149663 152149663 single base substitution G A intron_variant MELA-AU 6 152150381 152150381 single base substitution C T intron_variant MELA-AU 6 152150492 152150492 single base substitution C T intron_variant MELA-AU 6 152150509 152150509 single base substitution C T intron_variant MELA-AU 6 152150518 152150518 single base substitution C T intron_variant MELA-AU 6 152150736 152150736 single base substitution G A intron_variant MELA-AU 6 152151329 152151329 single base substitution G A intron_variant MELA-AU 6 152151523 152151523 single base substitution C T intron_variant MELA-AU 6 152151673 152151673 single base substitution C T intron_variant MELA-AU 6 152152222 152152222 single base substitution C T intron_variant MELA-AU 6 152152516 152152516 single base substitution C T intron_variant MELA-AU 6 152152669 152152669 single base substitution C T intron_variant MELA-AU 6 152152683 152152684 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152152706 152152706 single base substitution C G intron_variant MELA-AU 6 152152762 152152762 single base substitution C T intron_variant MELA-AU 6 152152778 152152778 single base substitution A G intron_variant MELA-AU 6 152152901 152152901 single base substitution T G intron_variant MELA-AU 6 152153129 152153129 single base substitution G A intron_variant MELA-AU 6 152153232 152153232 single base substitution C T intron_variant MELA-AU 6 152153362 152153362 single base substitution C A intron_variant MELA-AU 6 152154068 152154068 single base substitution C T intron_variant MELA-AU 6 152154102 152154104 deletion of <=200bp ATG - intron_variant MELA-AU 6 152154207 152154207 single base substitution G A intron_variant MELA-AU 6 152154382 152154383 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 152155232 152155232 single base substitution G T intron_variant MELA-AU 6 152155933 152155933 single base substitution G A intron_variant MELA-AU 6 152155996 152155996 single base substitution G A intron_variant MELA-AU 6 152156038 152156038 single base substitution A G intron_variant MELA-AU 6 152156131 152156131 single base substitution C T intron_variant MELA-AU 6 152156243 152156243 single base substitution C T intron_variant MELA-AU 6 152156274 152156274 single base substitution G A intron_variant MELA-AU 6 152156511 152156511 single base substitution C T intron_variant MELA-AU 6 152156931 152156931 single base substitution G A intron_variant MELA-AU 6 152157245 152157245 single base substitution G A intron_variant MELA-AU 6 152157300 152157300 single base substitution G A intron_variant MELA-AU 6 152157489 152157489 single base substitution G A intron_variant MELA-AU 6 152157502 152157502 single base substitution G A intron_variant MELA-AU 6 152157561 152157561 single base substitution C T intron_variant MELA-AU 6 152157610 152157610 single base substitution C T intron_variant MELA-AU 6 152157867 152157867 single base substitution G A intron_variant MELA-AU 6 152158173 152158173 single base substitution C T intron_variant MELA-AU 6 152158471 152158471 single base substitution G A intron_variant MELA-AU 6 152158490 152158490 single base substitution C T intron_variant MELA-AU 6 152158633 152158633 single base substitution C T intron_variant MELA-AU 6 152158712 152158712 single base substitution C T intron_variant MELA-AU 6 152158732 152158732 single base substitution C T intron_variant MELA-AU 6 152159022 152159022 single base substitution G A intron_variant MELA-AU 6 152159255 152159255 single base substitution C T intron_variant MELA-AU 6 152159459 152159459 single base substitution G A intron_variant MELA-AU 6 152159524 152159524 single base substitution G A intron_variant MELA-AU 6 152159608 152159608 single base substitution C T intron_variant MELA-AU 6 152160045 152160045 single base substitution C T intron_variant MELA-AU 6 152160192 152160192 single base substitution C T intron_variant MELA-AU 6 152160453 152160453 single base substitution C T intron_variant MELA-AU 6 152160583 152160583 single base substitution C T intron_variant MELA-AU 6 152160602 152160602 single base substitution G A intron_variant MELA-AU 6 152160698 152160698 single base substitution C T intron_variant MELA-AU 6 152161310 152161310 single base substitution C T intron_variant MELA-AU 6 152161343 152161343 single base substitution G A intron_variant MELA-AU 6 152161381 152161381 single base substitution C T intron_variant MELA-AU 6 152161510 152161510 single base substitution G A intron_variant MELA-AU 6 152161773 152161773 single base substitution G A intron_variant MELA-AU 6 152161972 152161972 single base substitution C T intron_variant MELA-AU 6 152162371 152162371 single base substitution C T intron_variant MELA-AU 6 152162452 152162453 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 6 152162581 152162581 single base substitution T C intron_variant MELA-AU 6 152163202 152163202 single base substitution C T intron_variant MELA-AU 6 152163350 152163350 single base substitution C T intron_variant MELA-AU 6 152163352 152163352 single base substitution C T intron_variant MELA-AU 6 152163514 152163514 single base substitution T A intron_variant MELA-AU 6 152163629 152163629 single base substitution C T intron_variant MELA-AU 6 152164713 152164713 single base substitution G A intron_variant MELA-AU 6 152164804 152164804 single base substitution C T intron_variant MELA-AU 6 152164865 152164865 single base substitution C T intron_variant MELA-AU 6 152165422 152165422 single base substitution C T intron_variant MELA-AU 6 152165848 152165849 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 6 152166171 152166171 single base substitution C T intron_variant MELA-AU 6 152166298 152166298 single base substitution G A intron_variant MELA-AU 6 152166346 152166346 single base substitution C T intron_variant MELA-AU 6 152166986 152166986 single base substitution C T intron_variant MELA-AU 6 152167330 152167331 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 6 152167404 152167404 single base substitution C T intron_variant MELA-AU 6 152167659 152167659 single base substitution C T intron_variant MELA-AU 6 152167802 152167802 single base substitution A G intron_variant MELA-AU 6 152167994 152167994 single base substitution G A intron_variant MELA-AU 6 152169060 152169060 single base substitution C T intron_variant MELA-AU 6 152169638 152169638 single base substitution A T intron_variant MELA-AU 6 152169752 152169752 single base substitution C T intron_variant MELA-AU 6 152169999 152169999 single base substitution C T intron_variant MELA-AU 6 152170139 152170139 single base substitution C T intron_variant MELA-AU 6 152170313 152170313 single base substitution C T intron_variant MELA-AU 6 152170453 152170453 single base substitution C T intron_variant MELA-AU 6 152170931 152170931 single base substitution C T intron_variant MELA-AU 6 152171324 152171324 single base substitution C T intron_variant MELA-AU 6 152171336 152171336 deletion of <=200bp T - intron_variant MELA-AU 6 152171412 152171412 single base substitution C T intron_variant MELA-AU 6 152171533 152171533 single base substitution A G intron_variant MELA-AU 6 152171763 152171763 single base substitution C T intron_variant MELA-AU 6 152172189 152172189 single base substitution G A intron_variant MELA-AU 6 152172198 152172198 single base substitution C T intron_variant MELA-AU 6 152172238 152172238 single base substitution C T intron_variant MELA-AU 6 152172347 152172347 single base substitution G A intron_variant MELA-AU 6 152172441 152172441 single base substitution C T intron_variant MELA-AU 6 152172443 152172443 single base substitution C T intron_variant MELA-AU 6 152173399 152173399 single base substitution G A intron_variant MELA-AU 6 152173646 152173646 single base substitution A T intron_variant MELA-AU 6 152173823 152173845 deletion of <=200bp CTCCTTTTCGGACCCAGAGCTTG - intron_variant MELA-AU 6 152174005 152174005 single base substitution G A intron_variant MELA-AU 6 152174019 152174019 single base substitution G A intron_variant MELA-AU 6 152174121 152174121 single base substitution A G intron_variant MELA-AU 6 152174376 152174376 single base substitution G A intron_variant MELA-AU 6 152174650 152174650 single base substitution C T intron_variant MELA-AU 6 152174738 152174738 single base substitution C T intron_variant MELA-AU 6 152174961 152174961 single base substitution C T intron_variant MELA-AU 6 152175016 152175017 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152175112 152175112 single base substitution C T intron_variant MELA-AU 6 152175358 152175358 single base substitution G A intron_variant MELA-AU 6 152175488 152175488 single base substitution G C intron_variant MELA-AU 6 152175618 152175618 single base substitution C T intron_variant MELA-AU 6 152175938 152175938 single base substitution C T intron_variant MELA-AU 6 152175987 152175987 single base substitution C T intron_variant MELA-AU 6 152176442 152176442 single base substitution C T intron_variant MELA-AU 6 152176767 152176767 single base substitution C T intron_variant MELA-AU 6 152176876 152176876 single base substitution G A intron_variant MELA-AU 6 152176978 152176978 single base substitution C T intron_variant MELA-AU 6 152177411 152177411 single base substitution G A intron_variant MELA-AU 6 152177661 152177661 single base substitution G C intron_variant MELA-AU 6 152177756 152177756 single base substitution C T intron_variant MELA-AU 6 152177796 152177796 single base substitution T G intron_variant MELA-AU 6 152177852 152177852 single base substitution G A intron_variant MELA-AU 6 152178063 152178063 single base substitution C T intron_variant MELA-AU 6 152178787 152178787 single base substitution C T intron_variant MELA-AU 6 152178933 152178933 single base substitution G A intron_variant MELA-AU 6 152179078 152179078 single base substitution C T intron_variant MELA-AU 6 152179126 152179126 single base substitution C T intron_variant MELA-AU 6 152179208 152179208 single base substitution C T intron_variant MELA-AU 6 152179281 152179281 single base substitution C T intron_variant MELA-AU 6 152179305 152179305 single base substitution G A intron_variant MELA-AU 6 152179768 152179768 single base substitution C T intron_variant MELA-AU 6 152179823 152179823 single base substitution G A intron_variant MELA-AU 6 152180152 152180152 single base substitution C T intron_variant MELA-AU 6 152180186 152180187 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152180356 152180370 deletion of <=200bp ATCACAATTTGTAAC - intron_variant MELA-AU 6 152180399 152180399 single base substitution G A intron_variant MELA-AU 6 152180654 152180655 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152180762 152180762 single base substitution C T intron_variant MELA-AU 6 152180853 152180853 single base substitution T G intron_variant MELA-AU 6 152181207 152181207 single base substitution T A intron_variant MELA-AU 6 152181532 152181532 single base substitution C T intron_variant MELA-AU 6 152181748 152181748 single base substitution G A intron_variant MELA-AU 6 152181754 152181754 single base substitution C T intron_variant MELA-AU 6 152182029 152182029 single base substitution C T intron_variant MELA-AU 6 152182192 152182192 single base substitution A T intron_variant MELA-AU 6 152182476 152182476 single base substitution T A intron_variant MELA-AU 6 152182548 152182548 single base substitution C T intron_variant MELA-AU 6 152183332 152183333 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152183474 152183474 single base substitution G A intron_variant MELA-AU 6 152183529 152183529 single base substitution G A intron_variant MELA-AU 6 152183658 152183658 single base substitution C T intron_variant MELA-AU 6 152183879 152183879 single base substitution T G intron_variant MELA-AU 6 152183933 152183933 single base substitution C T intron_variant MELA-AU 6 152184000 152184000 single base substitution G A intron_variant MELA-AU 6 152184168 152184168 single base substitution C T intron_variant MELA-AU 6 152184288 152184288 single base substitution C T intron_variant MELA-AU 6 152184386 152184386 single base substitution G A intron_variant MELA-AU 6 152184507 152184507 single base substitution G A intron_variant MELA-AU 6 152184668 152184668 single base substitution G A intron_variant MELA-AU 6 152185166 152185166 single base substitution C G intron_variant MELA-AU 6 152185365 152185365 single base substitution C T intron_variant MELA-AU 6 152185641 152185641 single base substitution C T intron_variant MELA-AU 6 152185831 152185831 single base substitution C T intron_variant MELA-AU 6 152186248 152186249 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152186282 152186282 single base substitution C T intron_variant MELA-AU 6 152186382 152186382 single base substitution T G intron_variant MELA-AU 6 152186389 152186389 single base substitution C T intron_variant MELA-AU 6 152186667 152186667 single base substitution C T intron_variant MELA-AU 6 152186762 152186762 single base substitution G A intron_variant MELA-AU 6 152186792 152186792 single base substitution G A intron_variant MELA-AU 6 152186930 152186930 single base substitution C T intron_variant MELA-AU 6 152187293 152187293 single base substitution C T intron_variant MELA-AU 6 152187337 152187337 single base substitution G A intron_variant MELA-AU 6 152187593 152187593 single base substitution C G intron_variant MELA-AU 6 152187603 152187603 single base substitution C T intron_variant MELA-AU 6 152187608 152187609 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152187773 152187773 single base substitution C T intron_variant MELA-AU 6 152187908 152187908 single base substitution T C intron_variant MELA-AU 6 152188992 152188992 single base substitution T G intron_variant MELA-AU 6 152189385 152189385 single base substitution C T intron_variant MELA-AU 6 152189533 152189533 single base substitution G A intron_variant MELA-AU 6 152190283 152190283 single base substitution C T intron_variant MELA-AU 6 152190373 152190373 single base substitution G A intron_variant MELA-AU 6 152190397 152190397 single base substitution G A intron_variant MELA-AU 6 152190516 152190516 single base substitution G A intron_variant MELA-AU 6 152190659 152190659 single base substitution C T intron_variant MELA-AU 6 152190754 152190754 single base substitution C T intron_variant MELA-AU 6 152190890 152190890 single base substitution T A intron_variant MELA-AU 6 152190904 152190904 single base substitution C T intron_variant MELA-AU 6 152190944 152190944 single base substitution C T intron_variant MELA-AU 6 152191304 152191304 single base substitution C T intron_variant MELA-AU 6 152191372 152191372 single base substitution C T intron_variant MELA-AU 6 152191789 152191789 single base substitution T A intron_variant MELA-AU 6 152191826 152191826 single base substitution C T intron_variant MELA-AU 6 152192096 152192096 single base substitution C T intron_variant MELA-AU 6 152192243 152192243 single base substitution C T intron_variant MELA-AU 6 152192256 152192256 single base substitution G A intron_variant MELA-AU 6 152192372 152192372 single base substitution A T intron_variant MELA-AU 6 152192637 152192637 single base substitution C T intron_variant MELA-AU 6 152192698 152192698 single base substitution C T intron_variant MELA-AU 6 152192835 152192835 single base substitution C T intron_variant MELA-AU 6 152193042 152193042 single base substitution G A intron_variant MELA-AU 6 152193512 152193512 single base substitution C T intron_variant MELA-AU 6 152194150 152194150 single base substitution C T intron_variant MELA-AU 6 152194165 152194165 single base substitution C T intron_variant MELA-AU 6 152194479 152194479 single base substitution G A intron_variant MELA-AU 6 152194538 152194538 single base substitution G A intron_variant MELA-AU 6 152194864 152194864 single base substitution C T intron_variant MELA-AU 6 152195100 152195100 single base substitution C T intron_variant MELA-AU 6 152195564 152195564 single base substitution G A intron_variant MELA-AU 6 152196122 152196122 single base substitution A G intron_variant MELA-AU 6 152196299 152196299 single base substitution C T intron_variant MELA-AU 6 152196380 152196380 single base substitution C T intron_variant MELA-AU 6 152196390 152196390 single base substitution C T intron_variant MELA-AU 6 152196445 152196445 single base substitution A G intron_variant MELA-AU 6 152196460 152196460 single base substitution C T intron_variant MELA-AU 6 152196612 152196612 single base substitution G A intron_variant MELA-AU 6 152196624 152196624 single base substitution C T intron_variant MELA-AU 6 152197222 152197222 single base substitution G A intron_variant MELA-AU 6 152197222 152197222 single base substitution G A upstream_gene_variant MELA-AU 6 152197717 152197717 single base substitution A C intron_variant MELA-AU 6 152197717 152197717 single base substitution A C upstream_gene_variant MELA-AU 6 152197780 152197780 single base substitution G A intron_variant MELA-AU 6 152197780 152197780 single base substitution G A upstream_gene_variant MELA-AU 6 152197822 152197822 single base substitution C T intron_variant MELA-AU 6 152197822 152197822 single base substitution C T upstream_gene_variant MELA-AU 6 152197880 152197880 single base substitution C T intron_variant MELA-AU 6 152197880 152197880 single base substitution C T upstream_gene_variant MELA-AU 6 152198237 152198237 single base substitution A C intron_variant MELA-AU 6 152198237 152198237 single base substitution A C upstream_gene_variant MELA-AU 6 152198951 152198951 single base substitution C T intron_variant MELA-AU 6 152198951 152198951 single base substitution C T upstream_gene_variant MELA-AU 6 152199043 152199043 single base substitution C T intron_variant MELA-AU 6 152199043 152199043 single base substitution C T upstream_gene_variant MELA-AU 6 152199620 152199620 single base substitution G A intron_variant MELA-AU 6 152199620 152199620 single base substitution G A upstream_gene_variant MELA-AU 6 152199712 152199712 single base substitution A G intron_variant MELA-AU 6 152199712 152199712 single base substitution A G upstream_gene_variant MELA-AU 6 152199835 152199836 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 6 152199835 152199836 multiple base substitution (>=2bp and <=200bp) GG TA upstream_gene_variant MELA-AU 6 152200021 152200021 single base substitution G A intron_variant MELA-AU 6 152200021 152200021 single base substitution G A upstream_gene_variant MELA-AU 6 152200355 152200355 single base substitution T G intron_variant MELA-AU 6 152200355 152200355 single base substitution T G upstream_gene_variant MELA-AU 6 152200464 152200464 single base substitution C T intron_variant MELA-AU 6 152200464 152200464 single base substitution C T upstream_gene_variant MELA-AU 6 152200729 152200729 single base substitution A G intron_variant MELA-AU 6 152200729 152200729 single base substitution A G upstream_gene_variant MELA-AU 6 152200808 152200808 single base substitution C T intron_variant MELA-AU 6 152200808 152200808 single base substitution C T upstream_gene_variant MELA-AU 6 152200928 152200928 single base substitution C T intron_variant MELA-AU 6 152200928 152200928 single base substitution C T upstream_gene_variant MELA-AU 6 152201077 152201077 single base substitution C T intron_variant MELA-AU 6 152201077 152201077 single base substitution C T upstream_gene_variant MELA-AU 6 152201198 152201198 single base substitution C T intron_variant MELA-AU 6 152201198 152201198 single base substitution C T upstream_gene_variant MELA-AU 6 152201292 152201292 single base substitution A G intron_variant MELA-AU 6 152201292 152201292 single base substitution A G upstream_gene_variant MELA-AU 6 152201586 152201586 single base substitution G A intron_variant MELA-AU 6 152201586 152201586 single base substitution G A upstream_gene_variant MELA-AU 6 152201625 152201625 single base substitution T C intron_variant MELA-AU 6 152201625 152201625 single base substitution T C upstream_gene_variant MELA-AU 6 152201798 152201798 single base substitution G A intron_variant MELA-AU 6 152201798 152201798 single base substitution G A missense_variant D218N 652G>A MELA-AU 6 152201798 152201798 single base substitution G A missense_variant D3N 7G>A MELA-AU 6 152201798 152201798 single base substitution G A missense_variant D45N 133G>A MELA-AU 6 152201899 152201899 single base substitution G A intron_variant MELA-AU 6 152201899 152201899 single base substitution G A missense_variant M251I 753G>A MELA-AU 6 152201899 152201899 single base substitution G A missense_variant M36I 108G>A MELA-AU 6 152201899 152201899 single base substitution G A missense_variant M78I 234G>A MELA-AU 6 152202103 152202103 single base substitution G A intron_variant MELA-AU 6 152202354 152202354 single base substitution C T intron_variant MELA-AU 6 152202600 152202600 single base substitution G A intron_variant MELA-AU 6 152202767 152202767 single base substitution A G intron_variant MELA-AU 6 152202797 152202797 single base substitution C T intron_variant MELA-AU 6 152203129 152203129 single base substitution C T intron_variant MELA-AU 6 152203174 152203174 single base substitution G T intron_variant MELA-AU 6 152203797 152203797 single base substitution C T intron_variant MELA-AU 6 152203912 152203912 single base substitution T A intron_variant MELA-AU 6 152204549 152204549 single base substitution C T intron_variant MELA-AU 6 152204647 152204647 single base substitution G A intron_variant MELA-AU 6 152204841 152204841 single base substitution T G intron_variant MELA-AU 6 152204918 152204918 single base substitution C T intron_variant MELA-AU 6 152204932 152204932 single base substitution C T intron_variant MELA-AU 6 152204956 152204956 single base substitution C T intron_variant MELA-AU 6 152204967 152204967 single base substitution C T intron_variant MELA-AU 6 152204969 152204969 single base substitution C T intron_variant MELA-AU 6 152205064 152205064 single base substitution A G intron_variant MELA-AU 6 152205276 152205276 single base substitution G A intron_variant MELA-AU 6 152205922 152205922 single base substitution C T intron_variant MELA-AU 6 152206410 152206410 single base substitution C T intron_variant MELA-AU 6 152206782 152206782 single base substitution C T intron_variant MELA-AU 6 152206828 152206828 single base substitution C T intron_variant MELA-AU 6 152206874 152206874 single base substitution C T intron_variant MELA-AU 6 152207199 152207199 single base substitution A T intron_variant MELA-AU 6 152207211 152207211 single base substitution A T intron_variant MELA-AU 6 152207272 152207272 single base substitution T C intron_variant MELA-AU 6 152207391 152207391 single base substitution T G intron_variant MELA-AU 6 152207469 152207469 single base substitution C T intron_variant MELA-AU 6 152207702 152207702 single base substitution A G intron_variant MELA-AU 6 152207794 152207794 single base substitution C T intron_variant MELA-AU 6 152207858 152207858 single base substitution C T intron_variant MELA-AU 6 152208004 152208004 single base substitution C T intron_variant MELA-AU 6 152208748 152208748 single base substitution G A intron_variant MELA-AU 6 152208841 152208841 single base substitution C T intron_variant MELA-AU 6 152208858 152208858 single base substitution C T intron_variant MELA-AU 6 152208895 152208895 single base substitution C T intron_variant MELA-AU 6 152209054 152209054 single base substitution C G intron_variant MELA-AU 6 152209579 152209579 single base substitution C T intron_variant MELA-AU 6 152209852 152209852 single base substitution T G intron_variant MELA-AU 6 152210045 152210045 single base substitution C T intron_variant MELA-AU 6 152210354 152210354 single base substitution G A intron_variant MELA-AU 6 152210550 152210550 single base substitution C T intron_variant MELA-AU 6 152210742 152210742 single base substitution C T intron_variant MELA-AU 6 152210817 152210817 single base substitution C T intron_variant MELA-AU 6 152210882 152210882 single base substitution G A intron_variant MELA-AU 6 152210948 152210948 single base substitution C T intron_variant MELA-AU 6 152211208 152211208 single base substitution C G intron_variant MELA-AU 6 152211504 152211504 single base substitution G A intron_variant MELA-AU 6 152212101 152212101 single base substitution C T intron_variant MELA-AU 6 152212520 152212520 single base substitution C T intron_variant MELA-AU 6 152212648 152212648 single base substitution C T intron_variant MELA-AU 6 152212720 152212720 single base substitution G A intron_variant MELA-AU 6 152213229 152213229 single base substitution G A intron_variant MELA-AU 6 152213284 152213284 single base substitution G T intron_variant MELA-AU 6 152213350 152213350 single base substitution C T intron_variant MELA-AU 6 152213525 152213525 single base substitution G A intron_variant MELA-AU 6 152213654 152213654 single base substitution C T intron_variant MELA-AU 6 152214253 152214253 single base substitution G A intron_variant MELA-AU 6 152214280 152214280 single base substitution C T intron_variant MELA-AU 6 152214368 152214368 single base substitution C T intron_variant MELA-AU 6 152215103 152215103 single base substitution T A intron_variant MELA-AU 6 152215271 152215271 single base substitution C T intron_variant MELA-AU 6 152215272 152215272 single base substitution C T intron_variant MELA-AU 6 152215273 152215273 single base substitution C T intron_variant MELA-AU 6 152215374 152215374 single base substitution G A intron_variant MELA-AU 6 152215435 152215435 single base substitution C T intron_variant MELA-AU 6 152215590 152215590 single base substitution C T intron_variant MELA-AU 6 152215874 152215874 single base substitution G A intron_variant MELA-AU 6 152216168 152216168 single base substitution C T intron_variant MELA-AU 6 152216169 152216169 single base substitution C T intron_variant MELA-AU 6 152216624 152216624 single base substitution C T intron_variant MELA-AU 6 152216790 152216790 single base substitution G A intron_variant MELA-AU 6 152217349 152217349 single base substitution G A intron_variant MELA-AU 6 152217353 152217354 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152217372 152217372 single base substitution G A intron_variant MELA-AU 6 152217438 152217438 single base substitution C T intron_variant MELA-AU 6 152217774 152217774 single base substitution C T intron_variant MELA-AU 6 152217992 152217992 single base substitution C T intron_variant MELA-AU 6 152217996 152217996 single base substitution G A intron_variant MELA-AU 6 152218063 152218063 single base substitution C T intron_variant MELA-AU 6 152219000 152219000 single base substitution G A intron_variant MELA-AU 6 152219222 152219222 single base substitution A T intron_variant MELA-AU 6 152219231 152219231 single base substitution C T intron_variant MELA-AU 6 152219509 152219509 single base substitution G A intron_variant MELA-AU 6 152219568 152219568 single base substitution G A intron_variant MELA-AU 6 152219597 152219597 single base substitution G A intron_variant MELA-AU 6 152220075 152220075 single base substitution C T intron_variant MELA-AU 6 152220097 152220097 single base substitution C T intron_variant MELA-AU 6 152220134 152220134 single base substitution C T intron_variant MELA-AU 6 152220179 152220179 single base substitution C T intron_variant MELA-AU 6 152220413 152220413 single base substitution G A intron_variant MELA-AU 6 152220504 152220504 single base substitution C T intron_variant MELA-AU 6 152220505 152220505 single base substitution C T intron_variant MELA-AU 6 152220778 152220778 single base substitution G A intron_variant MELA-AU 6 152221072 152221072 single base substitution C T intron_variant MELA-AU 6 152221278 152221278 single base substitution C T intron_variant MELA-AU 6 152221345 152221345 single base substitution C T intron_variant MELA-AU 6 152221432 152221432 single base substitution G T intron_variant MELA-AU 6 152221463 152221463 single base substitution G A intron_variant MELA-AU 6 152221682 152221682 single base substitution T A intron_variant MELA-AU 6 152221689 152221689 single base substitution C T intron_variant MELA-AU 6 152221802 152221802 single base substitution G A intron_variant MELA-AU 6 152221953 152221953 single base substitution G A intron_variant MELA-AU 6 152222236 152222236 single base substitution C T intron_variant MELA-AU 6 152222471 152222471 single base substitution G A intron_variant MELA-AU 6 152222535 152222535 single base substitution C T intron_variant MELA-AU 6 152222642 152222642 single base substitution C T intron_variant MELA-AU 6 152222644 152222644 single base substitution C T intron_variant MELA-AU 6 152222681 152222682 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152222691 152222691 single base substitution C T intron_variant MELA-AU 6 152222742 152222742 single base substitution G A intron_variant MELA-AU 6 152222774 152222774 single base substitution C T intron_variant MELA-AU 6 152222865 152222865 single base substitution C T intron_variant MELA-AU 6 152222956 152222956 single base substitution C T intron_variant MELA-AU 6 152223298 152223299 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152223406 152223406 single base substitution C T intron_variant MELA-AU 6 152223774 152223774 single base substitution G A intron_variant MELA-AU 6 152223897 152223897 single base substitution C T intron_variant MELA-AU 6 152224048 152224048 single base substitution C T intron_variant MELA-AU 6 152224187 152224187 single base substitution C T intron_variant MELA-AU 6 152224661 152224661 single base substitution C T intron_variant MELA-AU 6 152224700 152224700 single base substitution C T intron_variant MELA-AU 6 152224848 152224848 single base substitution C T intron_variant MELA-AU 6 152224922 152224922 single base substitution C T intron_variant MELA-AU 6 152224953 152224953 single base substitution C T intron_variant MELA-AU 6 152225014 152225015 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152225053 152225053 single base substitution G A intron_variant MELA-AU 6 152225135 152225135 single base substitution G A intron_variant MELA-AU 6 152225837 152225837 single base substitution G A intron_variant MELA-AU 6 152225942 152225942 single base substitution C T intron_variant MELA-AU 6 152225963 152225963 single base substitution C T intron_variant MELA-AU 6 152226123 152226123 single base substitution A T intron_variant MELA-AU 6 152226386 152226386 single base substitution C T intron_variant MELA-AU 6 152226432 152226432 single base substitution G A intron_variant MELA-AU 6 152226440 152226440 single base substitution T C intron_variant MELA-AU 6 152226545 152226545 single base substitution A G intron_variant MELA-AU 6 152226696 152226696 single base substitution G A intron_variant MELA-AU 6 152226720 152226720 single base substitution G T intron_variant MELA-AU 6 152226829 152226829 single base substitution C T intron_variant MELA-AU 6 152226858 152226858 single base substitution G A intron_variant MELA-AU 6 152227245 152227245 single base substitution A G intron_variant MELA-AU 6 152227508 152227508 single base substitution T C intron_variant MELA-AU 6 152227870 152227870 single base substitution C T intron_variant MELA-AU 6 152228669 152228669 single base substitution G A intron_variant MELA-AU 6 152228789 152228789 single base substitution C T intron_variant MELA-AU 6 152228976 152228976 single base substitution C T intron_variant MELA-AU 6 152229132 152229132 single base substitution A G intron_variant MELA-AU 6 152229138 152229138 single base substitution G A intron_variant MELA-AU 6 152229189 152229189 single base substitution C T intron_variant MELA-AU 6 152229242 152229242 single base substitution C T intron_variant MELA-AU 6 152229721 152229721 single base substitution C T intron_variant MELA-AU 6 152229740 152229740 single base substitution G T intron_variant MELA-AU 6 152229761 152229761 single base substitution C T intron_variant MELA-AU 6 152229979 152229979 single base substitution G A intron_variant MELA-AU 6 152230213 152230213 single base substitution G A intron_variant MELA-AU 6 152230234 152230235 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 6 152230320 152230320 single base substitution C T intron_variant MELA-AU 6 152230450 152230450 single base substitution G A intron_variant MELA-AU 6 152230784 152230784 single base substitution G A intron_variant MELA-AU 6 152231873 152231873 single base substitution G A intron_variant MELA-AU 6 152232139 152232139 single base substitution T A intron_variant MELA-AU 6 152232495 152232495 single base substitution G A intron_variant MELA-AU 6 152232497 152232497 single base substitution G A intron_variant MELA-AU 6 152232614 152232614 single base substitution C T intron_variant MELA-AU 6 152232658 152232658 single base substitution C T intron_variant MELA-AU 6 152232810 152232810 single base substitution C T intron_variant MELA-AU 6 152232941 152232941 single base substitution C T intron_variant MELA-AU 6 152233118 152233118 single base substitution G A intron_variant MELA-AU 6 152233605 152233605 single base substitution C T intron_variant MELA-AU 6 152233798 152233798 single base substitution G A intron_variant MELA-AU 6 152233891 152233891 single base substitution C T intron_variant MELA-AU 6 152233930 152233930 single base substitution C T intron_variant MELA-AU 6 152234202 152234202 single base substitution C T intron_variant MELA-AU 6 152234276 152234276 single base substitution C T intron_variant MELA-AU 6 152234449 152234449 single base substitution C T intron_variant MELA-AU 6 152234951 152234951 single base substitution C T intron_variant MELA-AU 6 152234968 152234968 single base substitution C A intron_variant MELA-AU 6 152235224 152235224 single base substitution C T intron_variant MELA-AU 6 152235354 152235354 single base substitution C T intron_variant MELA-AU 6 152235782 152235782 single base substitution T C intron_variant MELA-AU 6 152236178 152236178 single base substitution C T intron_variant MELA-AU 6 152236257 152236257 single base substitution G A intron_variant MELA-AU 6 152236274 152236274 single base substitution G A intron_variant MELA-AU 6 152237253 152237253 single base substitution G A intron_variant MELA-AU 6 152237474 152237474 single base substitution C T intron_variant MELA-AU 6 152237649 152237649 single base substitution C T intron_variant MELA-AU 6 152237654 152237654 single base substitution G A intron_variant MELA-AU 6 152237729 152237729 single base substitution C A intron_variant MELA-AU 6 152237781 152237781 single base substitution C T intron_variant MELA-AU 6 152238010 152238010 single base substitution C T intron_variant MELA-AU 6 152238063 152238063 single base substitution G A intron_variant MELA-AU 6 152238593 152238593 single base substitution C T intron_variant MELA-AU 6 152238816 152238816 single base substitution C T intron_variant MELA-AU 6 152238831 152238831 single base substitution C T intron_variant MELA-AU 6 152238839 152238839 single base substitution G A intron_variant MELA-AU 6 152238893 152238893 single base substitution G T intron_variant MELA-AU 6 152239011 152239011 single base substitution G A intron_variant MELA-AU 6 152239189 152239189 single base substitution C T intron_variant MELA-AU 6 152239325 152239325 single base substitution C T intron_variant MELA-AU 6 152239355 152239355 single base substitution G A intron_variant MELA-AU 6 152239635 152239635 single base substitution G A intron_variant MELA-AU 6 152240323 152240323 single base substitution C T intron_variant MELA-AU 6 152240459 152240459 single base substitution C T intron_variant MELA-AU 6 152241427 152241427 single base substitution C T intron_variant MELA-AU 6 152241530 152241530 single base substitution C T intron_variant MELA-AU 6 152241651 152241651 single base substitution C T intron_variant MELA-AU 6 152241905 152241905 single base substitution C T intron_variant MELA-AU 6 152241987 152241987 single base substitution C T intron_variant MELA-AU 6 152242077 152242077 single base substitution T A intron_variant MELA-AU 6 152242335 152242335 single base substitution C G intron_variant MELA-AU 6 152242404 152242404 single base substitution C A intron_variant MELA-AU 6 152242570 152242570 single base substitution A C intron_variant MELA-AU 6 152242758 152242758 single base substitution T G intron_variant MELA-AU 6 152242850 152242850 single base substitution C T intron_variant MELA-AU 6 152243006 152243006 single base substitution C T intron_variant MELA-AU 6 152243318 152243318 single base substitution G A intron_variant MELA-AU 6 152243749 152243749 single base substitution C T intron_variant MELA-AU 6 152244135 152244135 single base substitution C T intron_variant MELA-AU 6 152244219 152244219 single base substitution T A intron_variant MELA-AU 6 152244332 152244332 single base substitution C T intron_variant MELA-AU 6 152244453 152244453 single base substitution T G intron_variant MELA-AU 6 152244537 152244537 single base substitution C T intron_variant MELA-AU 6 152244771 152244771 single base substitution C A intron_variant MELA-AU 6 152244866 152244866 single base substitution C T intron_variant MELA-AU 6 152245190 152245190 single base substitution C A intron_variant MELA-AU 6 152245190 152245190 single base substitution C T intron_variant MELA-AU 6 152245225 152245225 single base substitution C T intron_variant MELA-AU 6 152245485 152245485 single base substitution T C intron_variant MELA-AU 6 152245760 152245760 single base substitution C T intron_variant MELA-AU 6 152245773 152245773 single base substitution C T intron_variant MELA-AU 6 152245893 152245893 single base substitution G A intron_variant MELA-AU 6 152246142 152246142 single base substitution C T intron_variant MELA-AU 6 152246167 152246167 single base substitution C T intron_variant MELA-AU 6 152246454 152246454 single base substitution G A intron_variant MELA-AU 6 152246540 152246540 single base substitution G A intron_variant MELA-AU 6 152246691 152246691 single base substitution G A intron_variant MELA-AU 6 152246876 152246876 single base substitution C T intron_variant MELA-AU 6 152246898 152246898 single base substitution C T intron_variant MELA-AU 6 152246970 152246970 single base substitution C T intron_variant MELA-AU 6 152247289 152247289 single base substitution G A intron_variant MELA-AU 6 152247422 152247422 single base substitution C T intron_variant MELA-AU 6 152247517 152247517 single base substitution T A intron_variant MELA-AU 6 152247773 152247773 single base substitution C T intron_variant MELA-AU 6 152247897 152247897 single base substitution G A intron_variant MELA-AU 6 152247923 152247923 single base substitution A G intron_variant MELA-AU 6 152247976 152247976 single base substitution T A intron_variant MELA-AU 6 152247978 152247978 single base substitution C T intron_variant MELA-AU 6 152248070 152248071 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 152248351 152248351 single base substitution T A intron_variant MELA-AU 6 152248466 152248466 single base substitution G T intron_variant MELA-AU 6 152248557 152248557 single base substitution C T intron_variant MELA-AU 6 152248619 152248620 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 152249160 152249160 single base substitution C T intron_variant MELA-AU 6 152249192 152249192 single base substitution C T intron_variant MELA-AU 6 152249411 152249411 single base substitution C T intron_variant MELA-AU 6 152249610 152249610 single base substitution C T intron_variant MELA-AU 6 152249720 152249720 single base substitution C T intron_variant MELA-AU 6 152249755 152249755 single base substitution C T intron_variant MELA-AU 6 152249864 152249864 single base substitution C T intron_variant MELA-AU 6 152249915 152249916 multiple base substitution (>=2bp and <=200bp) AT GA intron_variant MELA-AU 6 152249944 152249944 single base substitution C A intron_variant MELA-AU 6 152250036 152250036 single base substitution C T intron_variant MELA-AU 6 152250102 152250102 single base substitution G A intron_variant MELA-AU 6 152250221 152250221 single base substitution C T intron_variant MELA-AU 6 152250332 152250332 single base substitution C T intron_variant MELA-AU 6 152250978 152250978 single base substitution G A intron_variant MELA-AU 6 152251020 152251020 single base substitution C T intron_variant MELA-AU 6 152251244 152251244 single base substitution G A intron_variant MELA-AU 6 152251527 152251527 single base substitution G A intron_variant MELA-AU 6 152251567 152251567 single base substitution C T intron_variant MELA-AU 6 152251576 152251576 single base substitution C T intron_variant MELA-AU 6 152251905 152251905 single base substitution C T intron_variant MELA-AU 6 152252061 152252061 single base substitution C T intron_variant MELA-AU 6 152252094 152252094 single base substitution C T intron_variant MELA-AU 6 152252327 152252327 single base substitution T G intron_variant MELA-AU 6 152252460 152252460 single base substitution C T intron_variant MELA-AU 6 152252542 152252542 single base substitution C T intron_variant MELA-AU 6 152252621 152252621 single base substitution T C intron_variant MELA-AU 6 152254073 152254073 single base substitution C T intron_variant MELA-AU 6 152254092 152254092 single base substitution G A intron_variant MELA-AU 6 152254118 152254118 single base substitution C T intron_variant MELA-AU 6 152254121 152254121 single base substitution T G intron_variant MELA-AU 6 152254783 152254783 single base substitution G A intron_variant MELA-AU 6 152254848 152254848 single base substitution C T intron_variant MELA-AU 6 152255287 152255287 single base substitution C T intron_variant MELA-AU 6 152255302 152255302 single base substitution C T intron_variant MELA-AU 6 152255485 152255485 single base substitution C T intron_variant MELA-AU 6 152255686 152255686 single base substitution A G intron_variant MELA-AU 6 152255687 152255687 single base substitution C T intron_variant MELA-AU 6 152255768 152255768 single base substitution C T intron_variant MELA-AU 6 152256369 152256369 single base substitution G A intron_variant MELA-AU 6 152256381 152256381 single base substitution G A intron_variant MELA-AU 6 152256644 152256644 single base substitution G A intron_variant MELA-AU 6 152256666 152256666 single base substitution G C intron_variant MELA-AU 6 152256730 152256730 single base substitution C T intron_variant MELA-AU 6 152256795 152256795 single base substitution G A intron_variant MELA-AU 6 152257306 152257306 single base substitution G A intron_variant MELA-AU 6 152258320 152258320 single base substitution A G intron_variant MELA-AU 6 152258424 152258424 single base substitution G A intron_variant MELA-AU 6 152258846 152258846 single base substitution C T intron_variant MELA-AU 6 152259141 152259141 single base substitution C T intron_variant MELA-AU 6 152259383 152259383 single base substitution C A intron_variant MELA-AU 6 152259729 152259729 single base substitution G T intron_variant MELA-AU 6 152259751 152259751 single base substitution C T intron_variant MELA-AU 6 152259940 152259940 single base substitution G A intron_variant MELA-AU 6 152260039 152260039 single base substitution C T intron_variant MELA-AU 6 152260344 152260344 single base substitution C T intron_variant MELA-AU 6 152260344 152260344 single base substitution C T upstream_gene_variant MELA-AU 6 152260556 152260556 single base substitution G A intron_variant MELA-AU 6 152260556 152260556 single base substitution G A upstream_gene_variant MELA-AU 6 152260613 152260613 single base substitution C T intron_variant MELA-AU 6 152260613 152260613 single base substitution C T upstream_gene_variant MELA-AU 6 152260648 152260648 single base substitution C T intron_variant MELA-AU 6 152260648 152260648 single base substitution C T upstream_gene_variant MELA-AU 6 152260801 152260801 single base substitution C T intron_variant MELA-AU 6 152260801 152260801 single base substitution C T upstream_gene_variant MELA-AU 6 152260965 152260965 single base substitution A G intron_variant MELA-AU 6 152260965 152260965 single base substitution A G upstream_gene_variant MELA-AU 6 152261400 152261400 single base substitution C T intron_variant MELA-AU 6 152261400 152261400 single base substitution C T upstream_gene_variant MELA-AU 6 152261672 152261672 single base substitution G A intron_variant MELA-AU 6 152261672 152261672 single base substitution G A upstream_gene_variant MELA-AU 6 152261672 152261672 single base substitution G T intron_variant MELA-AU 6 152261672 152261672 single base substitution G T upstream_gene_variant MELA-AU 6 152261680 152261680 single base substitution C T intron_variant MELA-AU 6 152261680 152261680 single base substitution C T upstream_gene_variant MELA-AU 6 152261726 152261726 single base substitution T C intron_variant MELA-AU 6 152261726 152261726 single base substitution T C upstream_gene_variant MELA-AU 6 152261749 152261749 single base substitution G A intron_variant MELA-AU 6 152261749 152261749 single base substitution G A upstream_gene_variant MELA-AU 6 152261827 152261827 single base substitution C T intron_variant MELA-AU 6 152261827 152261827 single base substitution C T upstream_gene_variant MELA-AU 6 152261879 152261879 single base substitution G A intron_variant MELA-AU 6 152261879 152261879 single base substitution G A upstream_gene_variant MELA-AU 6 152261909 152261909 single base substitution C T intron_variant MELA-AU 6 152261909 152261909 single base substitution C T upstream_gene_variant MELA-AU 6 152262068 152262068 single base substitution A T intron_variant MELA-AU 6 152262068 152262068 single base substitution A T upstream_gene_variant MELA-AU 6 152262084 152262084 single base substitution C T intron_variant MELA-AU 6 152262084 152262084 single base substitution C T upstream_gene_variant MELA-AU 6 152262156 152262156 single base substitution C T intron_variant MELA-AU 6 152262156 152262156 single base substitution C T upstream_gene_variant MELA-AU 6 152262313 152262313 single base substitution G A intron_variant MELA-AU 6 152262313 152262313 single base substitution G A upstream_gene_variant MELA-AU 6 152262447 152262447 single base substitution C T intron_variant MELA-AU 6 152262447 152262447 single base substitution C T upstream_gene_variant MELA-AU 6 152262478 152262478 single base substitution C T intron_variant MELA-AU 6 152262478 152262478 single base substitution C T upstream_gene_variant MELA-AU 6 152263121 152263121 single base substitution C T intron_variant MELA-AU 6 152263121 152263121 single base substitution C T upstream_gene_variant MELA-AU 6 152263337 152263337 single base substitution C T intron_variant MELA-AU 6 152263337 152263337 single base substitution C T upstream_gene_variant MELA-AU 6 152263472 152263472 single base substitution A C intron_variant MELA-AU 6 152263472 152263472 single base substitution A C upstream_gene_variant MELA-AU 6 152263915 152263915 single base substitution C T intron_variant MELA-AU 6 152263915 152263915 single base substitution C T upstream_gene_variant MELA-AU 6 152264188 152264188 single base substitution C T intron_variant MELA-AU 6 152264188 152264188 single base substitution C T upstream_gene_variant MELA-AU 6 152264281 152264281 single base substitution C T intron_variant MELA-AU 6 152264281 152264281 single base substitution C T upstream_gene_variant MELA-AU 6 152264487 152264487 single base substitution C T intron_variant MELA-AU 6 152264487 152264487 single base substitution C T upstream_gene_variant MELA-AU 6 152264509 152264509 single base substitution C T intron_variant MELA-AU 6 152264509 152264509 single base substitution C T upstream_gene_variant MELA-AU 6 152265140 152265140 single base substitution C T intron_variant MELA-AU 6 152265140 152265140 single base substitution C T upstream_gene_variant MELA-AU 6 152265266 152265266 single base substitution G A intron_variant MELA-AU 6 152265266 152265266 single base substitution G A upstream_gene_variant MELA-AU 6 152265535 152265535 single base substitution G A exon_variant MELA-AU 6 152265535 152265535 single base substitution G A intron_variant MELA-AU 6 152265535 152265535 single base substitution G A missense_variant E157K 469G>A MELA-AU 6 152265535 152265535 single base substitution G A missense_variant E330K 988G>A MELA-AU 6 152265549 152265549 single base substitution C T exon_variant MELA-AU 6 152265549 152265549 single base substitution C T intron_variant MELA-AU 6 152265549 152265549 single base substitution C T synonymous_variant T161T 483C>T MELA-AU 6 152265549 152265549 single base substitution C T synonymous_variant T334T 1002C>T MELA-AU 6 152265630 152265630 single base substitution G A exon_variant MELA-AU 6 152265630 152265630 single base substitution G A intron_variant MELA-AU 6 152265630 152265630 single base substitution G A synonymous_variant A188A 564G>A MELA-AU 6 152265630 152265630 single base substitution G A synonymous_variant A361A 1083G>A MELA-AU 6 152265750 152265750 single base substitution A T intron_variant MELA-AU 6 152265838 152265838 single base substitution C T intron_variant MELA-AU 6 152265840 152265840 single base substitution G A intron_variant MELA-AU 6 152266044 152266044 single base substitution G A intron_variant MELA-AU 6 152266093 152266093 single base substitution G C intron_variant MELA-AU 6 152266172 152266172 single base substitution G A intron_variant MELA-AU 6 152266244 152266244 single base substitution G A intron_variant MELA-AU 6 152266636 152266636 single base substitution G A intron_variant MELA-AU 6 152266818 152266818 single base substitution G A intron_variant MELA-AU 6 152267468 152267468 single base substitution C T intron_variant MELA-AU 6 152267822 152267822 single base substitution G A intron_variant MELA-AU 6 152267922 152267922 single base substitution A G intron_variant MELA-AU 6 152267990 152267990 single base substitution C T intron_variant MELA-AU 6 152268330 152268330 single base substitution C T intron_variant MELA-AU 6 152268847 152268847 single base substitution C T intron_variant MELA-AU 6 152268900 152268900 single base substitution G A intron_variant MELA-AU 6 152269011 152269011 single base substitution T C intron_variant MELA-AU 6 152269537 152269537 single base substitution T G intron_variant MELA-AU 6 152269624 152269624 single base substitution G A intron_variant MELA-AU 6 152269733 152269733 single base substitution C T intron_variant MELA-AU 6 152270207 152270207 single base substitution C T intron_variant MELA-AU 6 152270279 152270279 single base substitution C T intron_variant MELA-AU 6 152270734 152270734 single base substitution G A intron_variant MELA-AU 6 152270812 152270812 single base substitution C T intron_variant MELA-AU 6 152270944 152270944 single base substitution C T intron_variant MELA-AU 6 152271029 152271029 single base substitution C T intron_variant MELA-AU 6 152271082 152271082 single base substitution C T intron_variant MELA-AU 6 152271629 152271629 single base substitution G A intron_variant MELA-AU 6 152271717 152271717 single base substitution G A intron_variant MELA-AU 6 152271758 152271758 single base substitution G A intron_variant MELA-AU 6 152271846 152271846 single base substitution C T intron_variant MELA-AU 6 152271877 152271877 single base substitution C T intron_variant MELA-AU 6 152271879 152271879 single base substitution C T intron_variant MELA-AU 6 152272804 152272804 single base substitution G A intron_variant MELA-AU 6 152272953 152272953 single base substitution C T intron_variant MELA-AU 6 152273230 152273230 single base substitution C T intron_variant MELA-AU 6 152273501 152273501 single base substitution A G intron_variant MELA-AU 6 152273570 152273570 single base substitution C T intron_variant MELA-AU 6 152273820 152273820 single base substitution C T intron_variant MELA-AU 6 152274040 152274040 single base substitution C T intron_variant MELA-AU 6 152274174 152274174 single base substitution C T intron_variant MELA-AU 6 152274420 152274420 single base substitution C T intron_variant MELA-AU 6 152274750 152274750 single base substitution G A intron_variant MELA-AU 6 152275311 152275311 single base substitution C T intron_variant MELA-AU 6 152275453 152275453 single base substitution C T intron_variant MELA-AU 6 152275682 152275682 single base substitution C T intron_variant MELA-AU 6 152275694 152275694 single base substitution G A intron_variant MELA-AU 6 152276103 152276103 single base substitution C T intron_variant MELA-AU 6 152276446 152276446 single base substitution G A intron_variant MELA-AU 6 152276866 152276866 single base substitution A G intron_variant MELA-AU 6 152277316 152277316 single base substitution G A intron_variant MELA-AU 6 152277327 152277327 single base substitution T C intron_variant MELA-AU 6 152277336 152277336 single base substitution C T intron_variant MELA-AU 6 152277385 152277385 single base substitution G A intron_variant MELA-AU 6 152277516 152277516 single base substitution G T intron_variant MELA-AU 6 152277677 152277677 single base substitution C T intron_variant MELA-AU 6 152277693 152277693 single base substitution A G intron_variant MELA-AU 6 152277877 152277877 single base substitution C T intron_variant MELA-AU 6 152277885 152277885 single base substitution C T intron_variant MELA-AU 6 152277964 152277964 single base substitution T A intron_variant MELA-AU 6 152278430 152278430 single base substitution G A intron_variant MELA-AU 6 152279059 152279059 single base substitution C T intron_variant MELA-AU 6 152279616 152279616 single base substitution C T intron_variant MELA-AU 6 152279668 152279668 single base substitution C T intron_variant MELA-AU 6 152279743 152279743 single base substitution G A intron_variant MELA-AU 6 152279894 152279894 single base substitution G A intron_variant MELA-AU 6 152280547 152280547 single base substitution C T intron_variant MELA-AU 6 152280587 152280587 single base substitution C T intron_variant MELA-AU 6 152280633 152280633 single base substitution C T intron_variant MELA-AU 6 152280642 152280642 single base substitution C T intron_variant MELA-AU 6 152280925 152280925 single base substitution A T intron_variant MELA-AU 6 152281102 152281102 single base substitution G A intron_variant MELA-AU 6 152281674 152281674 single base substitution G A intron_variant MELA-AU 6 152281748 152281748 single base substitution G A intron_variant MELA-AU 6 152281774 152281774 single base substitution G A intron_variant MELA-AU 6 152281830 152281830 single base substitution G A intron_variant MELA-AU 6 152282038 152282038 single base substitution G A intron_variant MELA-AU 6 152282044 152282044 single base substitution C T intron_variant MELA-AU 6 152282092 152282092 single base substitution G A intron_variant MELA-AU 6 152282340 152282340 single base substitution G A intron_variant MELA-AU 6 152282655 152282655 single base substitution G A intron_variant MELA-AU 6 152283402 152283402 single base substitution C T intron_variant MELA-AU 6 152283861 152283861 single base substitution C T intron_variant MELA-AU 6 152284051 152284051 single base substitution T G intron_variant MELA-AU 6 152284446 152284446 single base substitution G A intron_variant MELA-AU 6 152284820 152284820 single base substitution A T intron_variant MELA-AU 6 152285494 152285494 single base substitution C T intron_variant MELA-AU 6 152285594 152285594 single base substitution C T intron_variant MELA-AU 6 152285965 152285965 single base substitution G A intron_variant MELA-AU 6 152286085 152286085 single base substitution C T intron_variant MELA-AU 6 152286114 152286114 single base substitution G A intron_variant MELA-AU 6 152286604 152286604 single base substitution C T intron_variant MELA-AU 6 152286735 152286735 single base substitution T A intron_variant MELA-AU 6 152287514 152287514 single base substitution C T intron_variant MELA-AU 6 152287746 152287746 single base substitution C T intron_variant MELA-AU 6 152288154 152288154 single base substitution C T intron_variant MELA-AU 6 152288187 152288187 single base substitution G A intron_variant MELA-AU 6 152288224 152288224 single base substitution C T intron_variant MELA-AU 6 152288351 152288351 single base substitution G A intron_variant MELA-AU 6 152288488 152288488 single base substitution G A intron_variant MELA-AU 6 152288547 152288547 single base substitution C T intron_variant MELA-AU 6 152288621 152288621 single base substitution C T intron_variant MELA-AU 6 152288631 152288631 single base substitution C T intron_variant MELA-AU 6 152288904 152288904 single base substitution C T intron_variant MELA-AU 6 152289303 152289303 single base substitution G A intron_variant MELA-AU 6 152289633 152289633 single base substitution G A intron_variant MELA-AU 6 152289682 152289682 single base substitution A T intron_variant MELA-AU 6 152289791 152289791 single base substitution C A intron_variant MELA-AU 6 152289888 152289888 single base substitution C T intron_variant MELA-AU 6 152289902 152289902 single base substitution G A intron_variant MELA-AU 6 152289908 152289908 single base substitution T C intron_variant MELA-AU 6 152289953 152289953 single base substitution C T intron_variant MELA-AU 6 152289961 152289961 single base substitution G A intron_variant MELA-AU 6 152289989 152289989 single base substitution C T intron_variant MELA-AU 6 152290283 152290283 single base substitution C T intron_variant MELA-AU 6 152290450 152290450 single base substitution C T intron_variant MELA-AU 6 152291103 152291103 single base substitution C T intron_variant MELA-AU 6 152291582 152291582 single base substitution C T intron_variant MELA-AU 6 152291878 152291879 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 6 152291896 152291896 single base substitution C T intron_variant MELA-AU 6 152291907 152291907 single base substitution C T intron_variant MELA-AU 6 152291949 152291949 single base substitution C T intron_variant MELA-AU 6 152291966 152291966 single base substitution C T intron_variant MELA-AU 6 152292005 152292005 single base substitution G A intron_variant MELA-AU 6 152292297 152292297 single base substitution G A intron_variant MELA-AU 6 152292341 152292341 single base substitution C T intron_variant MELA-AU 6 152292343 152292343 single base substitution C T intron_variant MELA-AU 6 152292501 152292501 single base substitution C T intron_variant MELA-AU 6 152292561 152292561 single base substitution G A intron_variant MELA-AU 6 152292589 152292589 single base substitution C T intron_variant MELA-AU 6 152292691 152292691 single base substitution C T intron_variant MELA-AU 6 152292711 152292711 single base substitution C T intron_variant MELA-AU 6 152292805 152292805 single base substitution A C intron_variant MELA-AU 6 152292928 152292928 single base substitution G A intron_variant MELA-AU 6 152293204 152293204 single base substitution C T intron_variant MELA-AU 6 152293364 152293364 single base substitution G A intron_variant MELA-AU 6 152293622 152293622 single base substitution G A intron_variant MELA-AU 6 152293664 152293664 single base substitution T A intron_variant MELA-AU 6 152293765 152293765 single base substitution G A intron_variant MELA-AU 6 152293836 152293836 single base substitution G A intron_variant MELA-AU 6 152294187 152294188 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 152294199 152294199 single base substitution C T intron_variant MELA-AU 6 152294320 152294320 single base substitution C T intron_variant MELA-AU 6 152294751 152294751 single base substitution C T intron_variant MELA-AU 6 152295487 152295487 single base substitution C T intron_variant MELA-AU 6 152295586 152295586 single base substitution G A intron_variant MELA-AU 6 152295876 152295876 single base substitution C T intron_variant MELA-AU 6 152295958 152295958 single base substitution C T intron_variant MELA-AU 6 152296104 152296104 single base substitution C T intron_variant MELA-AU 6 152296434 152296434 single base substitution C A intron_variant MELA-AU 6 152296442 152296443 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152296473 152296473 single base substitution C T intron_variant MELA-AU 6 152296525 152296525 single base substitution C T intron_variant MELA-AU 6 152296572 152296572 single base substitution G A intron_variant MELA-AU 6 152296595 152296595 single base substitution C T intron_variant MELA-AU 6 152296701 152296701 single base substitution G A intron_variant MELA-AU 6 152296853 152296853 single base substitution T C intron_variant MELA-AU 6 152297107 152297107 single base substitution C T intron_variant MELA-AU 6 152297271 152297271 single base substitution A G intron_variant MELA-AU 6 152297505 152297505 single base substitution C T intron_variant MELA-AU 6 152297567 152297567 single base substitution C T intron_variant MELA-AU 6 152297891 152297891 single base substitution A G intron_variant MELA-AU 6 152298334 152298334 single base substitution T A intron_variant MELA-AU 6 152298414 152298414 single base substitution G A intron_variant MELA-AU 6 152298504 152298504 single base substitution C T intron_variant MELA-AU 6 152298698 152298698 single base substitution A T intron_variant MELA-AU 6 152298714 152298714 single base substitution G A intron_variant MELA-AU 6 152298727 152298727 single base substitution C T intron_variant MELA-AU 6 152298884 152298884 single base substitution C T intron_variant MELA-AU 6 152299591 152299591 single base substitution A T intron_variant MELA-AU 6 152299914 152299914 single base substitution A T intron_variant MELA-AU 6 152300293 152300293 single base substitution C T intron_variant MELA-AU 6 152300327 152300327 single base substitution C T intron_variant MELA-AU 6 152300386 152300386 single base substitution G A intron_variant MELA-AU 6 152300866 152300866 single base substitution C T intron_variant MELA-AU 6 152301168 152301168 single base substitution C T intron_variant MELA-AU 6 152301252 152301252 single base substitution G A intron_variant MELA-AU 6 152301382 152301382 single base substitution C T intron_variant MELA-AU 6 152301484 152301484 single base substitution C T intron_variant MELA-AU 6 152301963 152301963 single base substitution C T intron_variant MELA-AU 6 152301974 152301974 single base substitution G A intron_variant MELA-AU 6 152302023 152302023 single base substitution G A intron_variant MELA-AU 6 152302608 152302608 single base substitution G A intron_variant MELA-AU 6 152302626 152302626 single base substitution G A intron_variant MELA-AU 6 152302882 152302882 single base substitution A G intron_variant MELA-AU 6 152302936 152302936 single base substitution G A intron_variant MELA-AU 6 152303062 152303062 single base substitution G A intron_variant MELA-AU 6 152303063 152303063 single base substitution G A intron_variant MELA-AU 6 152303635 152303635 single base substitution C T intron_variant MELA-AU 6 152304043 152304043 single base substitution T A intron_variant MELA-AU 6 152304321 152304321 single base substitution G A intron_variant MELA-AU 6 152304577 152304577 single base substitution T G intron_variant MELA-AU 6 152304577 152304577 single base substitution T G splice_region_variant MELA-AU 6 152304647 152304647 single base substitution C T exon_variant MELA-AU 6 152304647 152304647 single base substitution C T intron_variant MELA-AU 6 152304684 152304684 single base substitution C T exon_variant MELA-AU 6 152304684 152304684 single base substitution C T intron_variant MELA-AU 6 152304868 152304868 single base substitution G A intron_variant MELA-AU 6 152305054 152305054 single base substitution C T intron_variant MELA-AU 6 152305293 152305293 single base substitution T C exon_variant MELA-AU 6 152305293 152305293 single base substitution T C intron_variant MELA-AU 6 152305328 152305328 single base substitution C T downstream_gene_variant MELA-AU 6 152305328 152305328 single base substitution C T intron_variant MELA-AU 6 152305538 152305538 single base substitution C T downstream_gene_variant MELA-AU 6 152305538 152305538 single base substitution C T intron_variant MELA-AU 6 152305568 152305568 single base substitution A G downstream_gene_variant MELA-AU 6 152305568 152305568 single base substitution A G intron_variant MELA-AU 6 152305665 152305665 single base substitution C T downstream_gene_variant MELA-AU 6 152305665 152305665 single base substitution C T intron_variant MELA-AU 6 152305929 152305929 single base substitution A T downstream_gene_variant MELA-AU 6 152305929 152305929 single base substitution A T intron_variant MELA-AU 6 152305994 152305994 single base substitution G A downstream_gene_variant MELA-AU 6 152305994 152305994 single base substitution G A intron_variant MELA-AU 6 152306065 152306065 single base substitution C T downstream_gene_variant MELA-AU 6 152306065 152306065 single base substitution C T intron_variant MELA-AU 6 152306105 152306105 single base substitution C T downstream_gene_variant MELA-AU 6 152306105 152306105 single base substitution C T intron_variant MELA-AU 6 152306841 152306841 single base substitution C T downstream_gene_variant MELA-AU 6 152306841 152306841 single base substitution C T intron_variant MELA-AU 6 152307063 152307063 single base substitution C T downstream_gene_variant MELA-AU 6 152307063 152307063 single base substitution C T intron_variant MELA-AU 6 152307104 152307104 single base substitution C T downstream_gene_variant MELA-AU 6 152307104 152307104 single base substitution C T intron_variant MELA-AU 6 152307353 152307353 single base substitution G A downstream_gene_variant MELA-AU 6 152307353 152307353 single base substitution G A intron_variant MELA-AU 6 152307401 152307401 single base substitution G A downstream_gene_variant MELA-AU 6 152307401 152307401 single base substitution G A intron_variant MELA-AU 6 152307668 152307668 single base substitution G T downstream_gene_variant MELA-AU 6 152307668 152307668 single base substitution G T intron_variant MELA-AU 6 152307759 152307759 single base substitution T A downstream_gene_variant MELA-AU 6 152307759 152307759 single base substitution T A intron_variant MELA-AU 6 152308169 152308169 single base substitution G A downstream_gene_variant MELA-AU 6 152308169 152308169 single base substitution G A intron_variant MELA-AU 6 152308219 152308219 single base substitution C T downstream_gene_variant MELA-AU 6 152308219 152308219 single base substitution C T intron_variant MELA-AU 6 152308259 152308259 single base substitution G A downstream_gene_variant MELA-AU 6 152308259 152308259 single base substitution G A intron_variant MELA-AU 6 152308725 152308725 single base substitution C T downstream_gene_variant MELA-AU 6 152308725 152308725 single base substitution C T intron_variant MELA-AU 6 152308908 152308908 single base substitution C T downstream_gene_variant MELA-AU 6 152308908 152308908 single base substitution C T intron_variant MELA-AU 6 152309479 152309479 single base substitution C T downstream_gene_variant MELA-AU 6 152309479 152309479 single base substitution C T intron_variant MELA-AU 6 152309679 152309679 single base substitution G A downstream_gene_variant MELA-AU 6 152309679 152309679 single base substitution G A intron_variant MELA-AU 6 152309843 152309843 single base substitution C T downstream_gene_variant MELA-AU 6 152309843 152309843 single base substitution C T intron_variant MELA-AU 6 152309880 152309880 single base substitution C T downstream_gene_variant MELA-AU 6 152309880 152309880 single base substitution C T intron_variant MELA-AU 6 152310029 152310029 single base substitution C T downstream_gene_variant MELA-AU 6 152310029 152310029 single base substitution C T intron_variant MELA-AU 6 152310159 152310159 single base substitution A G downstream_gene_variant MELA-AU 6 152310159 152310159 single base substitution A G intron_variant MELA-AU 6 152310164 152310164 single base substitution G A downstream_gene_variant MELA-AU 6 152310164 152310164 single base substitution G A intron_variant MELA-AU 6 152310513 152310513 single base substitution C T intron_variant MELA-AU 6 152311026 152311026 single base substitution T C intron_variant MELA-AU 6 152311060 152311060 single base substitution C T intron_variant MELA-AU 6 152311070 152311070 single base substitution A G intron_variant MELA-AU 6 152311082 152311082 single base substitution T C intron_variant MELA-AU 6 152311865 152311865 single base substitution C T intron_variant MELA-AU 6 152311973 152311973 single base substitution C T intron_variant MELA-AU 6 152312550 152312550 single base substitution A G intron_variant MELA-AU 6 152312727 152312727 single base substitution G A intron_variant MELA-AU 6 152313020 152313020 single base substitution A G intron_variant MELA-AU 6 152313075 152313075 single base substitution C T intron_variant MELA-AU 6 152313123 152313123 single base substitution C T intron_variant MELA-AU 6 152313146 152313146 single base substitution C T intron_variant MELA-AU 6 152313155 152313155 single base substitution G A intron_variant MELA-AU 6 152313263 152313263 single base substitution C T intron_variant MELA-AU 6 152313971 152313971 single base substitution C T intron_variant MELA-AU 6 152314311 152314311 single base substitution G A intron_variant MELA-AU 6 152315009 152315009 single base substitution A G intron_variant MELA-AU 6 152315221 152315221 single base substitution G A intron_variant MELA-AU 6 152315277 152315277 single base substitution G A intron_variant MELA-AU 6 152315419 152315419 single base substitution C T intron_variant MELA-AU 6 152315459 152315459 single base substitution T A intron_variant MELA-AU 6 152315823 152315823 single base substitution G A intron_variant MELA-AU 6 152316366 152316366 single base substitution C T intron_variant MELA-AU 6 152316436 152316436 single base substitution C T intron_variant MELA-AU 6 152316595 152316595 single base substitution C T intron_variant MELA-AU 6 152316878 152316878 single base substitution G A intron_variant MELA-AU 6 152317273 152317273 single base substitution C T intron_variant MELA-AU 6 152317429 152317429 single base substitution C T intron_variant MELA-AU 6 152317561 152317561 single base substitution C T intron_variant MELA-AU 6 152317714 152317714 single base substitution A G intron_variant MELA-AU 6 152317725 152317725 single base substitution C T intron_variant MELA-AU 6 152317850 152317850 single base substitution C T intron_variant MELA-AU 6 152318013 152318013 single base substitution C T intron_variant MELA-AU 6 152318452 152318452 single base substitution C T intron_variant MELA-AU 6 152318483 152318483 single base substitution G T intron_variant MELA-AU 6 152319130 152319130 single base substitution C T intron_variant MELA-AU 6 152319214 152319214 single base substitution C T intron_variant MELA-AU 6 152319269 152319269 single base substitution C T intron_variant MELA-AU 6 152319600 152319601 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 152319882 152319882 single base substitution T C intron_variant MELA-AU 6 152320097 152320097 single base substitution G A intron_variant MELA-AU 6 152320808 152320808 single base substitution C T intron_variant MELA-AU 6 152320910 152320910 single base substitution C T intron_variant MELA-AU 6 152321056 152321056 single base substitution G A intron_variant MELA-AU 6 152321638 152321638 single base substitution G A intron_variant MELA-AU 6 152321900 152321900 single base substitution G A intron_variant MELA-AU 6 152322080 152322080 single base substitution C T intron_variant MELA-AU 6 152322464 152322464 single base substitution G A intron_variant MELA-AU 6 152322730 152322730 single base substitution C G intron_variant MELA-AU 6 152322807 152322807 single base substitution C T intron_variant MELA-AU 6 152322814 152322814 single base substitution C T intron_variant MELA-AU 6 152322918 152322918 single base substitution T C intron_variant MELA-AU 6 152323255 152323255 single base substitution C T intron_variant MELA-AU 6 152323431 152323431 single base substitution G A intron_variant MELA-AU 6 152323505 152323505 single base substitution T G intron_variant MELA-AU 6 152323581 152323581 single base substitution G A intron_variant MELA-AU 6 152323839 152323839 single base substitution C T intron_variant MELA-AU 6 152324039 152324039 single base substitution C T intron_variant MELA-AU 6 152324221 152324221 single base substitution C T intron_variant MELA-AU 6 152324223 152324223 single base substitution T C intron_variant MELA-AU 6 152325181 152325181 single base substitution G A intron_variant MELA-AU 6 152326561 152326561 single base substitution A G intron_variant MELA-AU 6 152327038 152327038 single base substitution G A intron_variant MELA-AU 6 152327376 152327376 single base substitution T G intron_variant MELA-AU 6 152328182 152328182 single base substitution C T intron_variant MELA-AU 6 152328830 152328830 single base substitution C T intron_variant MELA-AU 6 152329234 152329234 single base substitution C T intron_variant MELA-AU 6 152329462 152329462 single base substitution G A intron_variant MELA-AU 6 152329514 152329514 single base substitution C T intron_variant MELA-AU 6 152329515 152329515 single base substitution G A intron_variant MELA-AU 6 152329700 152329700 single base substitution C T intron_variant MELA-AU 6 152329866 152329866 single base substitution C T intron_variant MELA-AU 6 152330159 152330159 single base substitution C T intron_variant MELA-AU 6 152330179 152330179 single base substitution C T intron_variant MELA-AU 6 152330241 152330241 single base substitution C T intron_variant MELA-AU 6 152330457 152330457 single base substitution A G intron_variant MELA-AU 6 152330981 152330981 single base substitution G A intron_variant MELA-AU 6 152331422 152331423 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152331779 152331779 single base substitution C T intron_variant MELA-AU 6 152331948 152331948 single base substitution G A intron_variant MELA-AU 6 152331958 152331958 single base substitution G A intron_variant MELA-AU 6 152332001 152332001 single base substitution C T intron_variant MELA-AU 6 152332078 152332078 single base substitution C T intron_variant MELA-AU 6 152332172 152332172 single base substitution C T intron_variant MELA-AU 6 152332806 152332806 single base substitution C T intron_variant MELA-AU 6 152332806 152332806 single base substitution C T missense_variant T198I 593C>T MELA-AU 6 152332806 152332806 single base substitution C T missense_variant T259I 776C>T MELA-AU 6 152332806 152332806 single base substitution C T missense_variant T371I 1112C>T MELA-AU 6 152332806 152332806 single base substitution C T missense_variant T44I 131C>T MELA-AU 6 152332867 152332867 single base substitution C T intron_variant MELA-AU 6 152332867 152332867 single base substitution C T synonymous_variant L218L 654C>T MELA-AU 6 152332867 152332867 single base substitution C T synonymous_variant L279L 837C>T MELA-AU 6 152332867 152332867 single base substitution C T synonymous_variant L391L 1173C>T MELA-AU 6 152332867 152332867 single base substitution C T synonymous_variant L64L 192C>T MELA-AU 6 152332972 152332972 single base substitution G A intron_variant MELA-AU 6 152333185 152333185 single base substitution A T intron_variant MELA-AU 6 152334397 152334397 single base substitution T C intron_variant MELA-AU 6 152335156 152335156 single base substitution C T intron_variant MELA-AU 6 152335169 152335169 single base substitution G A intron_variant MELA-AU 6 152335197 152335207 deletion of <=200bp TAAAGGGGAGT - intron_variant MELA-AU 6 152336121 152336121 single base substitution G A intron_variant MELA-AU 6 152336464 152336464 single base substitution C T intron_variant MELA-AU 6 152336631 152336631 single base substitution C T intron_variant MELA-AU 6 152336681 152336681 single base substitution G A intron_variant MELA-AU 6 152336785 152336785 single base substitution G A intron_variant MELA-AU 6 152337554 152337554 single base substitution C T intron_variant MELA-AU 6 152337609 152337609 single base substitution C A intron_variant MELA-AU 6 152338585 152338585 single base substitution C T intron_variant MELA-AU 6 152338679 152338679 single base substitution G A intron_variant MELA-AU 6 152339114 152339114 single base substitution A T intron_variant MELA-AU 6 152339239 152339239 single base substitution C T intron_variant MELA-AU 6 152339342 152339342 single base substitution C T intron_variant MELA-AU 6 152339506 152339506 single base substitution C T intron_variant MELA-AU 6 152339558 152339558 single base substitution G A intron_variant MELA-AU 6 152339878 152339878 single base substitution G A intron_variant MELA-AU 6 152340094 152340094 single base substitution A G intron_variant MELA-AU 6 152340261 152340261 single base substitution G A intron_variant MELA-AU 6 152340576 152340576 single base substitution A G intron_variant MELA-AU 6 152340604 152340604 single base substitution C T intron_variant MELA-AU 6 152341363 152341363 single base substitution C T intron_variant MELA-AU 6 152341580 152341580 single base substitution C T intron_variant MELA-AU 6 152341772 152341772 single base substitution G A intron_variant MELA-AU 6 152341884 152341884 single base substitution C T intron_variant MELA-AU 6 152342061 152342061 single base substitution C T intron_variant MELA-AU 6 152342916 152342917 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 6 152342986 152342986 single base substitution C T intron_variant MELA-AU 6 152343342 152343342 single base substitution G A intron_variant MELA-AU 6 152343520 152343520 single base substitution G A intron_variant MELA-AU 6 152344790 152344790 single base substitution C T intron_variant MELA-AU 6 152344887 152344887 single base substitution G A intron_variant MELA-AU 6 152344955 152344955 single base substitution C T intron_variant MELA-AU 6 152345640 152345640 single base substitution G A intron_variant MELA-AU 6 152346120 152346120 single base substitution G A intron_variant MELA-AU 6 152346224 152346224 single base substitution G A intron_variant MELA-AU 6 152346392 152346392 single base substitution G A intron_variant MELA-AU 6 152347084 152347084 single base substitution C T intron_variant MELA-AU 6 152347136 152347136 single base substitution C T intron_variant MELA-AU 6 152347537 152347537 single base substitution C T intron_variant MELA-AU 6 152348238 152348238 single base substitution A T intron_variant MELA-AU 6 152348552 152348552 single base substitution C T intron_variant MELA-AU 6 152348627 152348627 single base substitution G A intron_variant MELA-AU 6 152348910 152348910 single base substitution C T intron_variant MELA-AU 6 152349026 152349026 single base substitution C T intron_variant MELA-AU 6 152349496 152349496 single base substitution G A intron_variant MELA-AU 6 152349605 152349605 single base substitution T C intron_variant MELA-AU 6 152349634 152349634 single base substitution C T intron_variant MELA-AU 6 152349939 152349939 single base substitution C T intron_variant MELA-AU 6 152350032 152350032 single base substitution G A intron_variant MELA-AU 6 152350091 152350091 single base substitution G A intron_variant MELA-AU 6 152350149 152350149 single base substitution G A intron_variant MELA-AU 6 152350346 152350346 single base substitution G A intron_variant MELA-AU 6 152350910 152350910 single base substitution C T intron_variant MELA-AU 6 152351976 152351976 single base substitution C T intron_variant MELA-AU 6 152352471 152352471 single base substitution C T intron_variant MELA-AU 6 152352540 152352540 single base substitution G A intron_variant MELA-AU 6 152353022 152353022 single base substitution C T intron_variant MELA-AU 6 152353340 152353340 single base substitution G A intron_variant MELA-AU 6 152353688 152353688 single base substitution G A intron_variant MELA-AU 6 152353974 152353974 single base substitution C T intron_variant MELA-AU 6 152354046 152354046 single base substitution G A intron_variant MELA-AU 6 152355104 152355104 single base substitution G A intron_variant MELA-AU 6 152355169 152355169 single base substitution C A intron_variant MELA-AU 6 152355792 152355792 single base substitution C T intron_variant MELA-AU 6 152357302 152357302 single base substitution C T intron_variant MELA-AU 6 152357323 152357323 single base substitution C T intron_variant MELA-AU 6 152357392 152357392 single base substitution G A intron_variant MELA-AU 6 152357472 152357472 single base substitution G A intron_variant MELA-AU 6 152358319 152358319 single base substitution C T intron_variant MELA-AU 6 152358546 152358546 single base substitution C T intron_variant MELA-AU 6 152358575 152358575 single base substitution G A intron_variant MELA-AU 6 152359395 152359395 single base substitution C T intron_variant MELA-AU 6 152359446 152359447 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 152359662 152359662 single base substitution G A intron_variant MELA-AU 6 152360331 152360331 single base substitution G A intron_variant MELA-AU 6 152360500 152360500 single base substitution G A intron_variant MELA-AU 6 152360795 152360795 single base substitution C T intron_variant MELA-AU 6 152360938 152360938 single base substitution C T intron_variant MELA-AU 6 152361012 152361012 single base substitution C T intron_variant MELA-AU 6 152361053 152361053 single base substitution C T intron_variant MELA-AU 6 152361067 152361067 single base substitution T G intron_variant MELA-AU 6 152361358 152361358 single base substitution G A intron_variant MELA-AU 6 152361760 152361760 single base substitution C T intron_variant MELA-AU 6 152361793 152361793 single base substitution C T intron_variant MELA-AU 6 152361941 152361941 single base substitution C T intron_variant MELA-AU 6 152362278 152362278 single base substitution C T intron_variant MELA-AU 6 152362346 152362346 single base substitution A G intron_variant MELA-AU 6 152362550 152362550 single base substitution C T intron_variant MELA-AU 6 152362649 152362649 single base substitution C T intron_variant MELA-AU 6 152362692 152362692 single base substitution C T intron_variant MELA-AU 6 152363003 152363003 single base substitution C T intron_variant MELA-AU 6 152363135 152363135 single base substitution C T intron_variant MELA-AU 6 152363477 152363477 single base substitution C T intron_variant MELA-AU 6 152363595 152363595 single base substitution T A intron_variant MELA-AU 6 152363601 152363601 single base substitution C T intron_variant MELA-AU 6 152363652 152363652 single base substitution G A intron_variant MELA-AU 6 152363653 152363653 single base substitution G A intron_variant MELA-AU 6 152363657 152363657 single base substitution G A intron_variant MELA-AU 6 152363761 152363761 single base substitution G A intron_variant MELA-AU 6 152364223 152364223 single base substitution C T intron_variant MELA-AU 6 152364278 152364278 single base substitution C T intron_variant MELA-AU 6 152364540 152364540 single base substitution C T intron_variant MELA-AU 6 152364750 152364750 single base substitution C T intron_variant MELA-AU 6 152364839 152364839 single base substitution C T intron_variant MELA-AU 6 152364857 152364857 single base substitution C T intron_variant MELA-AU 6 152364901 152364901 single base substitution C T intron_variant MELA-AU 6 152365013 152365013 single base substitution C T intron_variant MELA-AU 6 152365158 152365158 single base substitution G A intron_variant MELA-AU 6 152365692 152365692 single base substitution G A intron_variant MELA-AU 6 152365954 152365954 single base substitution C T intron_variant MELA-AU 6 152365995 152365995 single base substitution C T intron_variant MELA-AU 6 152366197 152366197 single base substitution G A intron_variant MELA-AU 6 152366455 152366455 single base substitution C A intron_variant MELA-AU 6 152366573 152366573 single base substitution A G intron_variant MELA-AU 6 152366853 152366853 single base substitution T A intron_variant MELA-AU 6 152367556 152367556 single base substitution G A intron_variant MELA-AU 6 152367655 152367655 single base substitution C T intron_variant MELA-AU 6 152367673 152367673 single base substitution G A intron_variant MELA-AU 6 152368115 152368115 single base substitution G A intron_variant MELA-AU 6 152368189 152368189 single base substitution C T intron_variant MELA-AU 6 152368411 152368411 single base substitution G A intron_variant MELA-AU 6 152368789 152368790 multiple base substitution (>=2bp and <=200bp) CA AG intron_variant MELA-AU 6 152368962 152368962 single base substitution T C intron_variant MELA-AU 6 152369079 152369079 single base substitution G A intron_variant MELA-AU 6 152369168 152369168 single base substitution A G intron_variant MELA-AU 6 152369241 152369241 single base substitution C T intron_variant MELA-AU 6 152370167 152370167 single base substitution G A intron_variant MELA-AU 6 152370911 152370911 single base substitution C T intron_variant MELA-AU 6 152371767 152371767 single base substitution C T intron_variant MELA-AU 6 152371879 152371879 single base substitution C T intron_variant MELA-AU 6 152372063 152372063 single base substitution G A intron_variant MELA-AU 6 152372160 152372160 single base substitution G A intron_variant MELA-AU 6 152372551 152372551 single base substitution C T intron_variant MELA-AU 6 152372582 152372582 single base substitution C T intron_variant MELA-AU 6 152372837 152372837 single base substitution G A intron_variant MELA-AU 6 152373890 152373890 single base substitution G A intron_variant MELA-AU 6 152374148 152374148 single base substitution C T intron_variant MELA-AU 6 152374383 152374383 single base substitution C T intron_variant MELA-AU 6 152374601 152374601 single base substitution C T intron_variant MELA-AU 6 152374703 152374703 single base substitution C T intron_variant MELA-AU 6 152375251 152375251 single base substitution C T intron_variant MELA-AU 6 152375339 152375339 single base substitution G A intron_variant MELA-AU 6 152375390 152375390 single base substitution C T intron_variant MELA-AU 6 152375525 152375525 single base substitution C T intron_variant MELA-AU 6 152375749 152375749 single base substitution C T intron_variant MELA-AU 6 152375750 152375750 single base substitution C T intron_variant MELA-AU 6 152375930 152375930 single base substitution C T intron_variant MELA-AU 6 152376008 152376008 single base substitution G A intron_variant MELA-AU 6 152376193 152376193 single base substitution C T intron_variant MELA-AU 6 152376262 152376262 single base substitution A G intron_variant MELA-AU 6 152376320 152376320 single base substitution C T intron_variant MELA-AU 6 152376668 152376668 single base substitution C T intron_variant MELA-AU 6 152376699 152376699 single base substitution C T intron_variant MELA-AU 6 152376754 152376754 single base substitution C T intron_variant MELA-AU 6 152376944 152376944 single base substitution C T intron_variant MELA-AU 6 152377278 152377278 single base substitution C T intron_variant MELA-AU 6 152377991 152377991 single base substitution C T intron_variant MELA-AU 6 152378096 152378096 single base substitution G A intron_variant MELA-AU 6 152378301 152378301 single base substitution T C intron_variant MELA-AU 6 152378461 152378461 single base substitution G A intron_variant MELA-AU 6 152378756 152378756 single base substitution C A intron_variant MELA-AU 6 152378901 152378901 single base substitution C T intron_variant MELA-AU 6 152378907 152378907 single base substitution G A intron_variant MELA-AU 6 152379310 152379310 single base substitution C T intron_variant MELA-AU 6 152379974 152379974 single base substitution C T intron_variant MELA-AU 6 152380309 152380309 single base substitution A T intron_variant MELA-AU 6 152380468 152380468 single base substitution C T intron_variant MELA-AU 6 152380966 152380966 single base substitution G A intron_variant MELA-AU 6 152381041 152381041 single base substitution C T intron_variant MELA-AU 6 152381451 152381451 single base substitution C T intron_variant MELA-AU 6 152381484 152381484 single base substitution C T intron_variant MELA-AU 6 152381569 152381569 single base substitution G A intron_variant MELA-AU 6 152381843 152381843 single base substitution T C intron_variant MELA-AU 6 152381854 152381854 single base substitution C T intron_variant MELA-AU 6 152382133 152382133 single base substitution G A missense_variant G154R 460G>A MELA-AU 6 152382133 152382133 single base substitution G A missense_variant G242R 724G>A MELA-AU 6 152382133 152382133 single base substitution G A missense_variant G303R 907G>A MELA-AU 6 152382133 152382133 single base substitution G A missense_variant G415R 1243G>A MELA-AU 6 152382133 152382133 single base substitution G A missense_variant G88R 262G>A MELA-AU 6 152382745 152382745 single base substitution G A downstream_gene_variant MELA-AU 6 152382745 152382745 single base substitution G A intron_variant MELA-AU 6 152383138 152383139 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 152383138 152383139 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152383282 152383282 single base substitution C T downstream_gene_variant MELA-AU 6 152383282 152383282 single base substitution C T intron_variant MELA-AU 6 152383304 152383304 single base substitution C T downstream_gene_variant MELA-AU 6 152383304 152383304 single base substitution C T intron_variant MELA-AU 6 152383361 152383361 single base substitution C T downstream_gene_variant MELA-AU 6 152383361 152383361 single base substitution C T intron_variant MELA-AU 6 152383856 152383857 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 6 152383856 152383857 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 152383934 152383934 single base substitution T A downstream_gene_variant MELA-AU 6 152383934 152383934 single base substitution T A intron_variant MELA-AU 6 152384180 152384180 single base substitution C T downstream_gene_variant MELA-AU 6 152384180 152384180 single base substitution C T intron_variant MELA-AU 6 152384637 152384637 single base substitution C T downstream_gene_variant MELA-AU 6 152384637 152384637 single base substitution C T intron_variant MELA-AU 6 152384995 152384995 single base substitution C T downstream_gene_variant MELA-AU 6 152384995 152384995 single base substitution C T intron_variant MELA-AU 6 152385135 152385135 single base substitution C T downstream_gene_variant MELA-AU 6 152385135 152385135 single base substitution C T intron_variant MELA-AU 6 152385513 152385513 single base substitution C T downstream_gene_variant MELA-AU 6 152385513 152385513 single base substitution C T intron_variant MELA-AU 6 152385911 152385911 single base substitution C T downstream_gene_variant MELA-AU 6 152385911 152385911 single base substitution C T intron_variant MELA-AU 6 152385986 152385986 single base substitution T C downstream_gene_variant MELA-AU 6 152385986 152385986 single base substitution T C intron_variant MELA-AU 6 152386094 152386094 single base substitution G A downstream_gene_variant MELA-AU 6 152386094 152386094 single base substitution G A intron_variant MELA-AU 6 152386109 152386109 single base substitution G A downstream_gene_variant MELA-AU 6 152386109 152386109 single base substitution G A intron_variant MELA-AU 6 152386528 152386528 single base substitution C T downstream_gene_variant MELA-AU 6 152386528 152386528 single base substitution C T intron_variant MELA-AU 6 152386807 152386807 single base substitution C T downstream_gene_variant MELA-AU 6 152386807 152386807 single base substitution C T intron_variant MELA-AU 6 152387279 152387279 single base substitution G A intron_variant MELA-AU 6 152387667 152387667 single base substitution C T intron_variant MELA-AU 6 152387825 152387825 single base substitution C T intron_variant MELA-AU 6 152388023 152388023 single base substitution A T intron_variant MELA-AU 6 152388482 152388482 single base substitution G A intron_variant MELA-AU 6 152388588 152388588 single base substitution G A intron_variant MELA-AU 6 152388706 152388706 single base substitution G A intron_variant MELA-AU 6 152389081 152389081 single base substitution G A intron_variant MELA-AU 6 152389126 152389126 single base substitution G A intron_variant MELA-AU 6 152389634 152389634 single base substitution C T intron_variant MELA-AU 6 152390790 152390790 single base substitution C T intron_variant MELA-AU 6 152390909 152390909 single base substitution C T intron_variant MELA-AU 6 152391296 152391296 single base substitution C T intron_variant MELA-AU 6 152392204 152392204 single base substitution C T intron_variant MELA-AU 6 152392282 152392282 single base substitution C T intron_variant MELA-AU 6 152392316 152392316 single base substitution C T intron_variant MELA-AU 6 152392429 152392429 single base substitution G A intron_variant MELA-AU 6 152392460 152392460 single base substitution G A intron_variant MELA-AU 6 152392480 152392480 single base substitution A G intron_variant MELA-AU 6 152392558 152392558 single base substitution G A intron_variant MELA-AU 6 152392605 152392605 single base substitution T C intron_variant MELA-AU 6 152393025 152393025 single base substitution G T intron_variant MELA-AU 6 152393047 152393047 single base substitution T C intron_variant MELA-AU 6 152393715 152393716 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 152394100 152394100 single base substitution C T intron_variant MELA-AU 6 152394293 152394293 single base substitution C T intron_variant MELA-AU 6 152394322 152394322 single base substitution G A intron_variant MELA-AU 6 152394351 152394351 single base substitution C A intron_variant MELA-AU 6 152394491 152394491 single base substitution C T intron_variant MELA-AU 6 152394925 152394925 single base substitution C T intron_variant MELA-AU 6 152394981 152394981 single base substitution C T intron_variant MELA-AU 6 152395212 152395212 single base substitution A T intron_variant MELA-AU 6 152395956 152395956 single base substitution C T intron_variant MELA-AU 6 152396085 152396085 single base substitution C T intron_variant MELA-AU 6 152396447 152396447 single base substitution C T intron_variant MELA-AU 6 152396660 152396660 single base substitution C T intron_variant MELA-AU 6 152397050 152397051 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 152397071 152397071 single base substitution C T intron_variant MELA-AU 6 152397089 152397089 single base substitution T A intron_variant MELA-AU 6 152397215 152397215 single base substitution G A intron_variant MELA-AU 6 152398018 152398018 single base substitution A T intron_variant MELA-AU 6 152398067 152398067 single base substitution G A intron_variant MELA-AU 6 152398087 152398087 single base substitution T C intron_variant MELA-AU 6 152398357 152398357 single base substitution G A intron_variant MELA-AU 6 152398637 152398637 single base substitution C T intron_variant MELA-AU 6 152398776 152398776 single base substitution A G intron_variant MELA-AU 6 152399280 152399280 single base substitution C T intron_variant MELA-AU 6 152399611 152399611 single base substitution C T intron_variant MELA-AU 6 152399690 152399690 single base substitution G A intron_variant MELA-AU 6 152399813 152399813 single base substitution C T intron_variant MELA-AU 6 152399842 152399842 single base substitution C T intron_variant MELA-AU 6 152400112 152400112 single base substitution G A intron_variant MELA-AU 6 152400326 152400326 single base substitution C T intron_variant MELA-AU 6 152400394 152400394 single base substitution G A intron_variant MELA-AU 6 152400716 152400716 single base substitution C T intron_variant MELA-AU 6 152400809 152400809 single base substitution C T intron_variant MELA-AU 6 152400905 152400905 single base substitution G A intron_variant MELA-AU 6 152400970 152400970 single base substitution C T intron_variant MELA-AU 6 152401208 152401208 single base substitution G A intron_variant MELA-AU 6 152401620 152401620 single base substitution G A intron_variant MELA-AU 6 152402250 152402250 single base substitution C T intron_variant MELA-AU 6 152402552 152402552 single base substitution T A intron_variant MELA-AU 6 152402655 152402655 single base substitution G A intron_variant MELA-AU 6 152402826 152402826 single base substitution G A intron_variant MELA-AU 6 152402882 152402882 single base substitution A T intron_variant MELA-AU 6 152403190 152403190 single base substitution C T intron_variant MELA-AU 6 152403221 152403221 single base substitution G A intron_variant MELA-AU 6 152403320 152403320 single base substitution C T intron_variant MELA-AU 6 152403331 152403331 single base substitution C T intron_variant MELA-AU 6 152403343 152403343 single base substitution C T intron_variant MELA-AU 6 152403940 152403940 single base substitution C T intron_variant MELA-AU 6 152404031 152404031 single base substitution C T intron_variant MELA-AU 6 152404088 152404088 single base substitution G A intron_variant MELA-AU 6 152404207 152404207 single base substitution C T intron_variant MELA-AU 6 152404407 152404407 single base substitution G A intron_variant MELA-AU 6 152404507 152404507 single base substitution C T intron_variant MELA-AU 6 152404508 152404508 single base substitution C T intron_variant MELA-AU 6 152404586 152404586 single base substitution T C intron_variant MELA-AU 6 152404637 152404637 single base substitution C T intron_variant MELA-AU 6 152404814 152404814 single base substitution T G intron_variant MELA-AU 6 152404851 152404851 single base substitution G A intron_variant MELA-AU 6 152404943 152404943 single base substitution C T intron_variant MELA-AU 6 152405010 152405010 single base substitution G A intron_variant MELA-AU 6 152405172 152405172 single base substitution G A intron_variant MELA-AU 6 152405245 152405245 single base substitution C T intron_variant MELA-AU 6 152405576 152405576 single base substitution G A intron_variant MELA-AU 6 152405965 152405965 single base substitution C T intron_variant MELA-AU 6 152406633 152406633 single base substitution G A intron_variant MELA-AU 6 152406946 152406946 single base substitution C T intron_variant MELA-AU 6 152406972 152406972 single base substitution C T intron_variant MELA-AU 6 152407045 152407045 single base substitution G A intron_variant MELA-AU 6 152407138 152407138 single base substitution C T intron_variant MELA-AU 6 152407198 152407198 single base substitution C A intron_variant MELA-AU 6 152407220 152407220 single base substitution C T intron_variant MELA-AU 6 152407243 152407243 single base substitution C T intron_variant MELA-AU 6 152407423 152407424 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 152407513 152407513 single base substitution A G intron_variant MELA-AU 6 152407976 152407976 single base substitution A C intron_variant MELA-AU 6 152408062 152408062 single base substitution G A intron_variant MELA-AU 6 152408221 152408222 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 6 152408289 152408289 single base substitution T C intron_variant MELA-AU 6 152408673 152408673 single base substitution C T intron_variant MELA-AU 6 152408816 152408816 single base substitution C T intron_variant MELA-AU 6 152409103 152409103 single base substitution C T intron_variant MELA-AU 6 152409572 152409572 single base substitution C T intron_variant MELA-AU 6 152409703 152409703 single base substitution T C intron_variant MELA-AU 6 152409907 152409907 single base substitution C T intron_variant MELA-AU 6 152410183 152410183 single base substitution C T intron_variant MELA-AU 6 152410532 152410532 single base substitution G A intron_variant MELA-AU 6 152411808 152411808 single base substitution C T intron_variant MELA-AU 6 152411984 152411984 single base substitution C T intron_variant MELA-AU 6 152412020 152412020 single base substitution G A intron_variant MELA-AU 6 152412088 152412088 single base substitution A C intron_variant MELA-AU 6 152412257 152412258 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 152412344 152412344 single base substitution C T intron_variant MELA-AU 6 152412637 152412637 single base substitution A G intron_variant MELA-AU 6 152412778 152412779 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152412846 152412846 single base substitution C T intron_variant MELA-AU 6 152413705 152413705 single base substitution G A intron_variant MELA-AU 6 152414052 152414052 single base substitution G A intron_variant MELA-AU 6 152414123 152414123 single base substitution G A intron_variant MELA-AU 6 152414238 152414239 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152414977 152414977 single base substitution C T intron_variant MELA-AU 6 152415304 152415305 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 152415465 152415465 single base substitution C T intron_variant MELA-AU 6 152415553 152415553 single base substitution C T intron_variant MELA-AU 6 152415553 152415553 single base substitution C T missense_variant S207F 620C>T MELA-AU 6 152415553 152415553 single base substitution C T missense_variant S356F 1067C>T MELA-AU 6 152415553 152415553 single base substitution C T missense_variant S468F 1403C>T MELA-AU 6 152415608 152415608 single base substitution G A intron_variant MELA-AU 6 152415608 152415608 single base substitution G A synonymous_variant L225L 675G>A MELA-AU 6 152415608 152415608 single base substitution G A synonymous_variant L374L 1122G>A MELA-AU 6 152415608 152415608 single base substitution G A synonymous_variant L486L 1458G>A MELA-AU 6 152417475 152417475 single base substitution G A intron_variant MELA-AU 6 152417523 152417523 single base substitution C T intron_variant MELA-AU 6 152417744 152417744 single base substitution G A intron_variant MELA-AU 6 152417950 152417950 single base substitution C T intron_variant MELA-AU 6 152418502 152418502 single base substitution C T intron_variant MELA-AU 6 152419152 152419152 single base substitution C T intron_variant MELA-AU 6 152419504 152419504 single base substitution G A intron_variant MELA-AU 6 152419599 152419599 single base substitution C T intron_variant MELA-AU 6 152420002 152420002 single base substitution G A intron_variant MELA-AU 6 152420002 152420002 single base substitution G A synonymous_variant T302T 906G>A MELA-AU 6 152420002 152420002 single base substitution G A synonymous_variant T451T 1353G>A MELA-AU 6 152420002 152420002 single base substitution G A synonymous_variant T563T 1689G>A MELA-AU 6 152420026 152420026 single base substitution G A intron_variant MELA-AU 6 152420026 152420026 single base substitution G A synonymous_variant A310A 930G>A MELA-AU 6 152420026 152420026 single base substitution G A synonymous_variant A459A 1377G>A MELA-AU 6 152420026 152420026 single base substitution G A synonymous_variant A571A 1713G>A MELA-AU 6 152420065 152420065 single base substitution C T intron_variant MELA-AU 6 152420065 152420065 single base substitution C T synonymous_variant I323I 969C>T MELA-AU 6 152420065 152420065 single base substitution C T synonymous_variant I472I 1416C>T MELA-AU 6 152420065 152420065 single base substitution C T synonymous_variant I584I 1752C>T MELA-AU 6 152420419 152420419 single base substitution C T 3_prime_UTR_variant MELA-AU 6 152420419 152420419 single base substitution C T downstream_gene_variant MELA-AU 6 152420419 152420419 single base substitution C T intron_variant MELA-AU 6 152421072 152421072 single base substitution G A 3_prime_UTR_variant MELA-AU 6 152421072 152421072 single base substitution G A downstream_gene_variant MELA-AU 6 152421072 152421072 single base substitution G A intron_variant MELA-AU 6 152421303 152421303 single base substitution G A 3_prime_UTR_variant MELA-AU 6 152421303 152421303 single base substitution G A downstream_gene_variant MELA-AU 6 152421303 152421303 single base substitution G A intron_variant MELA-AU 6 152421535 152421535 single base substitution C T 3_prime_UTR_variant MELA-AU 6 152421535 152421535 single base substitution C T downstream_gene_variant MELA-AU 6 152421535 152421535 single base substitution C T intron_variant MELA-AU 6 152421657 152421657 single base substitution C T 3_prime_UTR_variant MELA-AU 6 152421657 152421657 single base substitution C T downstream_gene_variant MELA-AU 6 152421657 152421657 single base substitution C T intron_variant MELA-AU 6 152422380 152422380 single base substitution G A 3_prime_UTR_variant MELA-AU 6 152422380 152422380 single base substitution G A downstream_gene_variant MELA-AU 6 152422380 152422380 single base substitution G A intron_variant MELA-AU 6 152422539 152422539 single base substitution G A 3_prime_UTR_variant MELA-AU 6 152422539 152422539 single base substitution G A downstream_gene_variant MELA-AU 6 152422539 152422539 single base substitution G A intron_variant MELA-AU 6 152422695 152422695 single base substitution G A 3_prime_UTR_variant MELA-AU 6 152422695 152422695 single base substitution G A downstream_gene_variant MELA-AU 6 152422695 152422695 single base substitution G A intron_variant MELA-AU 6 152422773 152422773 single base substitution G A 3_prime_UTR_variant MELA-AU 6 152422773 152422773 single base substitution G A downstream_gene_variant MELA-AU 6 152422773 152422773 single base substitution G A intron_variant MELA-AU 6 152423390 152423390 single base substitution G A 3_prime_UTR_variant MELA-AU 6 152423390 152423390 single base substitution G A downstream_gene_variant MELA-AU 6 152423390 152423390 single base substitution G A intron_variant MELA-AU 6 152423747 152423747 single base substitution G C 3_prime_UTR_variant MELA-AU 6 152423747 152423747 single base substitution G C downstream_gene_variant MELA-AU 6 152423747 152423747 single base substitution G C intron_variant MELA-AU 6 152423904 152423904 single base substitution C T 3_prime_UTR_variant MELA-AU 6 152423904 152423904 single base substitution C T downstream_gene_variant MELA-AU 6 152423904 152423904 single base substitution C T intron_variant MELA-AU 6 152423971 152423971 single base substitution C T 3_prime_UTR_variant MELA-AU 6 152423971 152423971 single base substitution C T downstream_gene_variant MELA-AU 6 152423971 152423971 single base substitution C T intron_variant MELA-AU 6 152424555 152424555 single base substitution C T downstream_gene_variant MELA-AU 6 152424555 152424555 single base substitution C T intron_variant MELA-AU 6 152424808 152424808 single base substitution G A downstream_gene_variant MELA-AU 6 152424808 152424808 single base substitution G A intron_variant MELA-AU 6 152425392 152425392 single base substitution C T downstream_gene_variant MELA-AU 6 152425392 152425392 single base substitution C T intron_variant MELA-AU 6 152425412 152425412 single base substitution C T downstream_gene_variant MELA-AU 6 152425412 152425412 single base substitution C T intron_variant MELA-AU 6 152425428 152425428 single base substitution C T downstream_gene_variant MELA-AU 6 152425428 152425428 single base substitution C T intron_variant MELA-AU 6 152425470 152425470 single base substitution C G downstream_gene_variant MELA-AU 6 152425470 152425470 single base substitution C G intron_variant MELA-AU 6 152425584 152425584 single base substitution C T downstream_gene_variant MELA-AU 6 152425584 152425584 single base substitution C T intron_variant MELA-AU 6 152425655 152425655 single base substitution C T downstream_gene_variant MELA-AU 6 152425655 152425655 single base substitution C T intron_variant MELA-AU 6 152425782 152425782 single base substitution A T downstream_gene_variant MELA-AU 6 152425782 152425782 single base substitution A T intron_variant MELA-AU 6 152425982 152425982 single base substitution G A downstream_gene_variant MELA-AU 6 152425982 152425982 single base substitution G A intron_variant MELA-AU 6 152426109 152426109 single base substitution C T downstream_gene_variant MELA-AU 6 152426109 152426109 single base substitution C T intron_variant MELA-AU 6 152426175 152426175 single base substitution G A downstream_gene_variant MELA-AU 6 152426175 152426175 single base substitution G A intron_variant MELA-AU 6 152426211 152426211 single base substitution C T downstream_gene_variant MELA-AU 6 152426211 152426211 single base substitution C T intron_variant MELA-AU 6 152426253 152426253 single base substitution T G downstream_gene_variant MELA-AU 6 152426253 152426253 single base substitution T G intron_variant MELA-AU 6 152426282 152426282 single base substitution C T downstream_gene_variant MELA-AU 6 152426282 152426282 single base substitution C T intron_variant MELA-AU 6 152426480 152426480 single base substitution G A downstream_gene_variant MELA-AU 6 152426480 152426480 single base substitution G A intron_variant MELA-AU 6 152427590 152427590 single base substitution G A downstream_gene_variant MELA-AU 6 152427590 152427590 single base substitution G A intron_variant MELA-AU 6 152428839 152428839 single base substitution C T downstream_gene_variant MELA-AU 6 152428839 152428839 single base substitution C T intron_variant MELA-AU 6 152428860 152428860 single base substitution C T downstream_gene_variant MELA-AU 6 152428860 152428860 single base substitution C T intron_variant MELA-AU 6 152429587 152429587 single base substitution G A intron_variant MELA-AU 6 152429810 152429810 single base substitution G A intron_variant MELA-AU 6 152430308 152430308 single base substitution A G intron_variant MELA-AU 6 152430328 152430328 single base substitution C T intron_variant MELA-AU 6 152430657 152430657 single base substitution A T intron_variant MELA-AU 6 152430826 152430826 single base substitution G A intron_variant MELA-AU 6 152431029 152431029 single base substitution G A intron_variant MELA-AU 6 152431213 152431213 single base substitution G T intron_variant MELA-AU 6 152431540 152431540 single base substitution C T intron_variant MELA-AU 6 152431694 152431694 single base substitution G A intron_variant MELA-AU 6 152431983 152431984 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 152432656 152432656 single base substitution G A intron_variant MELA-AU 6 152432802 152432802 single base substitution C T intron_variant MELA-AU 6 152433787 152433787 single base substitution C T intron_variant MELA-AU 6 152433819 152433819 single base substitution G A intron_variant MELA-AU 6 152434563 152434563 single base substitution G A intron_variant MELA-AU 6 152434662 152434662 single base substitution G A intron_variant MELA-AU 6 152434693 152434693 single base substitution G A intron_variant MELA-AU 6 152435504 152435504 single base substitution A G intron_variant MELA-AU 6 152435539 152435539 deletion of <=200bp T - intron_variant MELA-AU 6 152435546 152435546 single base substitution G A intron_variant MELA-AU 6 152437370 152437370 single base substitution G A intron_variant MELA-AU 6 152437479 152437479 single base substitution G A intron_variant MELA-AU 6 152437638 152437638 single base substitution A G intron_variant MELA-AU 6 152437710 152437710 single base substitution G A intron_variant MELA-AU 6 152438140 152438140 single base substitution G A intron_variant MELA-AU 6 152438146 152438146 single base substitution C T intron_variant MELA-AU 6 152438527 152438527 single base substitution G A intron_variant MELA-AU 6 152438965 152438965 single base substitution G A intron_variant MELA-AU 6 152438986 152438986 single base substitution G A intron_variant MELA-AU 6 152439764 152439764 single base substitution G A intron_variant MELA-AU 6 152439952 152439952 single base substitution C T intron_variant MELA-AU 6 152440510 152440510 single base substitution G A intron_variant MELA-AU 6 152440546 152440546 single base substitution G A intron_variant MELA-AU 6 152441455 152441455 single base substitution C T intron_variant MELA-AU 6 152441586 152441586 single base substitution G A intron_variant MELA-AU 6 152441595 152441595 single base substitution C T intron_variant MELA-AU 6 152441619 152441619 single base substitution G A intron_variant MELA-AU 6 152441717 152441717 single base substitution G A intron_variant MELA-AU 6 152441775 152441775 single base substitution G A intron_variant MELA-AU 6 152441877 152441877 single base substitution G A intron_variant MELA-AU 6 152442374 152442374 single base substitution G A intron_variant MELA-AU 6 152442530 152442530 single base substitution G A intron_variant MELA-AU 6 152443619 152443619 single base substitution C T intron_variant MELA-AU 6 152443715 152443715 single base substitution G A intron_variant MELA-AU 6 152443757 152443757 single base substitution G A intron_variant MELA-AU 6 152443785 152443785 single base substitution G A intron_variant MELA-AU 6 152444063 152444063 single base substitution C T intron_variant MELA-AU 6 152444405 152444405 single base substitution G A intron_variant MELA-AU 6 152444728 152444728 single base substitution C T intron_variant MELA-AU 6 152444772 152444772 single base substitution G A intron_variant MELA-AU 6 152445067 152445067 single base substitution G A intron_variant MELA-AU 6 152445067 152445068 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 152445616 152445616 single base substitution C T intron_variant MELA-AU 6 152446255 152446255 single base substitution C T intron_variant MELA-AU 6 152446257 152446257 single base substitution T C intron_variant MELA-AU 6 152447812 152447812 single base substitution G A 3_prime_UTR_variant MELA-AU 6 152448210 152448210 single base substitution G A 3_prime_UTR_variant MELA-AU 6 152448341 152448341 single base substitution C T 3_prime_UTR_variant MELA-AU 6 152449909 152449909 single base substitution C T 3_prime_UTR_variant MELA-AU 6 152450182 152450182 single base substitution G A 3_prime_UTR_variant MELA-AU 6 152450476 152450476 single base substitution G A 3_prime_UTR_variant MELA-AU 6 152450488 152450488 single base substitution G A 3_prime_UTR_variant MELA-AU 6 152450488 152450489 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 6 152450736 152450736 single base substitution G A 3_prime_UTR_variant MELA-AU 6 152450767 152450767 single base substitution G A downstream_gene_variant MELA-AU 6 152450791 152450791 single base substitution G A downstream_gene_variant MELA-AU 6 152451011 152451011 single base substitution G A downstream_gene_variant MELA-AU 6 152451151 152451151 single base substitution G A downstream_gene_variant MELA-AU 6 152451344 152451344 single base substitution C T downstream_gene_variant MELA-AU 6 152451984 152451984 single base substitution G A downstream_gene_variant MELA-AU 6 152452447 152452447 single base substitution G A downstream_gene_variant MELA-AU 6 152452456 152452456 single base substitution G A downstream_gene_variant MELA-AU 6 152452687 152452687 single base substitution C T downstream_gene_variant MELA-AU 6 152452784 152452784 single base substitution G A downstream_gene_variant MELA-AU 6 152452841 152452841 single base substitution C A downstream_gene_variant MELA-AU 6 152452948 152452948 single base substitution A T downstream_gene_variant MELA-AU 6 152452984 152452984 single base substitution G A downstream_gene_variant MELA-AU 6 152453178 152453178 single base substitution C T downstream_gene_variant MELA-AU 6 152453425 152453425 single base substitution C T downstream_gene_variant MELA-AU 6 152453491 152453491 single base substitution G A downstream_gene_variant MELA-AU 6 152453587 152453587 single base substitution T C downstream_gene_variant MELA-AU 6 152454058 152454058 single base substitution G A downstream_gene_variant MELA-AU 6 152454565 152454565 single base substitution G A downstream_gene_variant MELA-AU 6 152454589 152454589 single base substitution C T downstream_gene_variant MELA-AU 6 152455050 152455050 single base substitution C T downstream_gene_variant MELA-AU 6 152455601 152455601 single base substitution C T downstream_gene_variant ORCA-IN 6 152006090 152006090 single base substitution C T intron_variant ORCA-IN 6 152017282 152017282 single base substitution G T intron_variant ORCA-IN 6 152023534 152023534 single base substitution T C intron_variant ORCA-IN 6 152033573 152033573 single base substitution G A intron_variant ORCA-IN 6 152047273 152047273 single base substitution G T intron_variant ORCA-IN 6 152047283 152047283 single base substitution C G intron_variant ORCA-IN 6 152097296 152097296 single base substitution A G intron_variant ORCA-IN 6 152102939 152102939 deletion of <=200bp C - intron_variant ORCA-IN 6 152104303 152104303 single base substitution G A intron_variant ORCA-IN 6 152104537 152104537 single base substitution G A intron_variant ORCA-IN 6 152108870 152108870 single base substitution G A intron_variant ORCA-IN 6 152132941 152132941 single base substitution C A downstream_gene_variant ORCA-IN 6 152132941 152132941 single base substitution C A intron_variant ORCA-IN 6 152152810 152152810 single base substitution C T intron_variant ORCA-IN 6 152160008 152160008 single base substitution A G intron_variant ORCA-IN 6 152204117 152204117 single base substitution C G intron_variant ORCA-IN 6 152206945 152206945 single base substitution G T intron_variant ORCA-IN 6 152222237 152222237 single base substitution G A intron_variant ORCA-IN 6 152223406 152223406 single base substitution C G intron_variant ORCA-IN 6 152236984 152236984 single base substitution C T intron_variant ORCA-IN 6 152242106 152242106 single base substitution G A intron_variant ORCA-IN 6 152251558 152251558 single base substitution C G intron_variant ORCA-IN 6 152276852 152276852 single base substitution A G intron_variant ORCA-IN 6 152291001 152291001 single base substitution A G intron_variant ORCA-IN 6 152301067 152301067 single base substitution G A intron_variant ORCA-IN 6 152323497 152323497 single base substitution G A intron_variant ORCA-IN 6 152332045 152332045 single base substitution T C intron_variant ORCA-IN 6 152342463 152342463 single base substitution C T intron_variant ORCA-IN 6 152364655 152364655 single base substitution C G intron_variant ORCA-IN 6 152365081 152365081 single base substitution T C intron_variant ORCA-IN 6 152383992 152383992 single base substitution G A downstream_gene_variant ORCA-IN 6 152383992 152383992 single base substitution G A intron_variant ORCA-IN 6 152384386 152384386 single base substitution C T downstream_gene_variant ORCA-IN 6 152384386 152384386 single base substitution C T intron_variant ORCA-IN 6 152399713 152399713 single base substitution G T intron_variant OV-AU 6 151980085 151980085 single base substitution C T intron_variant OV-AU 6 151983706 151983706 single base substitution T G intron_variant OV-AU 6 151983944 151983944 single base substitution C A intron_variant OV-AU 6 151987159 151987159 single base substitution A G intron_variant OV-AU 6 151990422 151990422 single base substitution T G intron_variant OV-AU 6 151993114 151993114 single base substitution G A intron_variant OV-AU 6 151998483 151998483 single base substitution A T intron_variant OV-AU 6 151999371 151999371 single base substitution G A intron_variant OV-AU 6 152007602 152007602 single base substitution C T intron_variant OV-AU 6 152007602 152007602 single base substitution C T upstream_gene_variant OV-AU 6 152009041 152009041 single base substitution G C intron_variant OV-AU 6 152009041 152009041 single base substitution G C upstream_gene_variant OV-AU 6 152012056 152012056 single base substitution C A intron_variant OV-AU 6 152012596 152012596 single base substitution A G intron_variant OV-AU 6 152015032 152015032 single base substitution C T intron_variant OV-AU 6 152026834 152026834 single base substitution C G intron_variant OV-AU 6 152030269 152030269 single base substitution C A intron_variant OV-AU 6 152033642 152033642 single base substitution C T intron_variant OV-AU 6 152035158 152035158 single base substitution G C intron_variant OV-AU 6 152036051 152036051 single base substitution C T intron_variant OV-AU 6 152038459 152038459 single base substitution G C intron_variant OV-AU 6 152041424 152041424 single base substitution G A intron_variant OV-AU 6 152041581 152041581 single base substitution G T intron_variant OV-AU 6 152043802 152043802 single base substitution C A intron_variant OV-AU 6 152049862 152049862 single base substitution C G intron_variant OV-AU 6 152054515 152054515 single base substitution G A intron_variant OV-AU 6 152059660 152059660 single base substitution C T intron_variant OV-AU 6 152060185 152060185 single base substitution G T intron_variant OV-AU 6 152065794 152065794 single base substitution G T intron_variant OV-AU 6 152076422 152076422 single base substitution C A intron_variant OV-AU 6 152086045 152086045 single base substitution T C intron_variant OV-AU 6 152090853 152090853 single base substitution A C intron_variant OV-AU 6 152091752 152091752 single base substitution C T intron_variant OV-AU 6 152103480 152103480 single base substitution C T intron_variant OV-AU 6 152116684 152116684 single base substitution A T intron_variant OV-AU 6 152118112 152118112 single base substitution C G intron_variant OV-AU 6 152118648 152118648 single base substitution T C intron_variant OV-AU 6 152120713 152120713 single base substitution A C intron_variant OV-AU 6 152120713 152120713 single base substitution A C upstream_gene_variant OV-AU 6 152131630 152131630 single base substitution C T downstream_gene_variant OV-AU 6 152131630 152131630 single base substitution C T intron_variant OV-AU 6 152134545 152134545 single base substitution T C downstream_gene_variant OV-AU 6 152134545 152134545 single base substitution T C intron_variant OV-AU 6 152148529 152148529 single base substitution T G intron_variant OV-AU 6 152155322 152155322 single base substitution C G intron_variant OV-AU 6 152156988 152156988 single base substitution G T intron_variant OV-AU 6 152171657 152171657 single base substitution G A intron_variant OV-AU 6 152180889 152180889 single base substitution G A intron_variant OV-AU 6 152185198 152185198 single base substitution G T intron_variant OV-AU 6 152206124 152206124 single base substitution C G intron_variant OV-AU 6 152220757 152220757 single base substitution C A intron_variant OV-AU 6 152226260 152226260 single base substitution A G intron_variant OV-AU 6 152230899 152230899 single base substitution G C intron_variant OV-AU 6 152232898 152232898 single base substitution G T intron_variant OV-AU 6 152236066 152236066 single base substitution A T intron_variant OV-AU 6 152239482 152239482 single base substitution C G intron_variant OV-AU 6 152240943 152240943 single base substitution G C intron_variant OV-AU 6 152242390 152242390 single base substitution G T intron_variant OV-AU 6 152245097 152245097 single base substitution T C intron_variant OV-AU 6 152262624 152262624 single base substitution T G intron_variant OV-AU 6 152262624 152262624 single base substitution T G upstream_gene_variant OV-AU 6 152273461 152273461 single base substitution G C intron_variant OV-AU 6 152275341 152275341 single base substitution C A intron_variant OV-AU 6 152279215 152279215 single base substitution C T intron_variant OV-AU 6 152287254 152287254 single base substitution A G intron_variant OV-AU 6 152291379 152291379 single base substitution C T intron_variant OV-AU 6 152303182 152303182 single base substitution T G intron_variant OV-AU 6 152306487 152306487 single base substitution A G downstream_gene_variant OV-AU 6 152306487 152306487 single base substitution A G intron_variant OV-AU 6 152316937 152316937 single base substitution G A intron_variant OV-AU 6 152319003 152319003 single base substitution T C intron_variant OV-AU 6 152319178 152319178 single base substitution G C intron_variant OV-AU 6 152352309 152352309 single base substitution C A intron_variant OV-AU 6 152356598 152356598 single base substitution G T intron_variant OV-AU 6 152357220 152357220 single base substitution C A intron_variant OV-AU 6 152364975 152364975 single base substitution C A intron_variant OV-AU 6 152366535 152366535 single base substitution C G intron_variant OV-AU 6 152370947 152370947 single base substitution G T intron_variant OV-AU 6 152378692 152378692 single base substitution C T intron_variant OV-AU 6 152388197 152388197 single base substitution C T intron_variant OV-AU 6 152390961 152390961 single base substitution G T intron_variant OV-AU 6 152391623 152391623 single base substitution G T intron_variant OV-AU 6 152391905 152391905 single base substitution T C intron_variant OV-AU 6 152403991 152403991 single base substitution A T intron_variant OV-AU 6 152404860 152404860 single base substitution C A intron_variant OV-AU 6 152408900 152408900 single base substitution G C intron_variant OV-AU 6 152415944 152415944 single base substitution G C intron_variant OV-AU 6 152418119 152418119 single base substitution C T intron_variant OV-AU 6 152423054 152423054 single base substitution T C 3_prime_UTR_variant OV-AU 6 152423054 152423054 single base substitution T C downstream_gene_variant OV-AU 6 152423054 152423054 single base substitution T C intron_variant OV-AU 6 152428433 152428433 single base substitution T G downstream_gene_variant OV-AU 6 152428433 152428433 single base substitution T G intron_variant OV-AU 6 152432056 152432056 single base substitution G T intron_variant OV-AU 6 152446868 152446868 single base substitution T C 3_prime_UTR_variant OV-AU 6 152452532 152452532 single base substitution A G downstream_gene_variant OV-AU 6 152454792 152454792 single base substitution T C downstream_gene_variant PACA-AU 6 151972904 151972904 deletion of <=200bp G - upstream_gene_variant PACA-AU 6 151974985 151974985 single base substitution G C upstream_gene_variant PACA-AU 6 151976031 151976031 deletion of <=200bp T - upstream_gene_variant PACA-AU 6 151980840 151980840 single base substitution G A intron_variant PACA-AU 6 151985192 151985192 single base substitution T A intron_variant PACA-AU 6 151994899 151994899 single base substitution G T intron_variant PACA-AU 6 151997765 151997765 single base substitution C A intron_variant PACA-AU 6 152001598 152001598 single base substitution C G intron_variant PACA-AU 6 152004198 152004198 single base substitution C T intron_variant PACA-AU 6 152004392 152004392 single base substitution G A intron_variant PACA-AU 6 152005739 152005739 single base substitution C T intron_variant PACA-AU 6 152007255 152007255 single base substitution G T intron_variant PACA-AU 6 152007255 152007255 single base substitution G T upstream_gene_variant PACA-AU 6 152007515 152007515 single base substitution T C intron_variant PACA-AU 6 152007515 152007515 single base substitution T C upstream_gene_variant PACA-AU 6 152008242 152008242 single base substitution A T intron_variant PACA-AU 6 152008242 152008242 single base substitution A T upstream_gene_variant PACA-AU 6 152009700 152009700 single base substitution A G intron_variant PACA-AU 6 152009700 152009700 single base substitution A G upstream_gene_variant PACA-AU 6 152012155 152012155 single base substitution T C intron_variant PACA-AU 6 152015741 152015741 single base substitution G A intron_variant PACA-AU 6 152024784 152024784 deletion of <=200bp A - intron_variant PACA-AU 6 152025476 152025476 single base substitution G A intron_variant PACA-AU 6 152025869 152025869 single base substitution C T intron_variant PACA-AU 6 152029787 152029787 single base substitution T G intron_variant PACA-AU 6 152033456 152033456 single base substitution C T intron_variant PACA-AU 6 152036702 152036702 single base substitution T G intron_variant PACA-AU 6 152039054 152039054 single base substitution C G intron_variant PACA-AU 6 152046356 152046356 single base substitution A C intron_variant PACA-AU 6 152048706 152048706 deletion of <=200bp T - intron_variant PACA-AU 6 152048918 152048938 deletion of <=200bp TCTGATAGTTTTATAAGGGCC - intron_variant PACA-AU 6 152052321 152052321 single base substitution G A intron_variant PACA-AU 6 152059479 152059479 single base substitution C T intron_variant PACA-AU 6 152062673 152062673 single base substitution G A intron_variant PACA-AU 6 152065871 152065871 single base substitution C A intron_variant PACA-AU 6 152071366 152071366 single base substitution C A intron_variant PACA-AU 6 152071600 152071600 single base substitution G T intron_variant PACA-AU 6 152076851 152076851 single base substitution C T intron_variant PACA-AU 6 152077536 152077536 single base substitution C G intron_variant PACA-AU 6 152077640 152077640 single base substitution C G intron_variant PACA-AU 6 152085226 152085226 single base substitution A T intron_variant PACA-AU 6 152089278 152089278 single base substitution T C intron_variant PACA-AU 6 152090640 152090640 single base substitution G A intron_variant PACA-AU 6 152100966 152100966 single base substitution C T intron_variant PACA-AU 6 152101930 152101930 single base substitution C G intron_variant PACA-AU 6 152102937 152102938 deletion of <=200bp CA - intron_variant PACA-AU 6 152104861 152104861 single base substitution A G intron_variant PACA-AU 6 152108678 152108678 single base substitution C A intron_variant PACA-AU 6 152126106 152126106 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 6 152126106 152126106 single base substitution C T intron_variant PACA-AU 6 152126106 152126106 single base substitution C T upstream_gene_variant PACA-AU 6 152126585 152126585 single base substitution C A 5_prime_UTR_variant PACA-AU 6 152126585 152126585 single base substitution C A intron_variant PACA-AU 6 152126585 152126585 single base substitution C A upstream_gene_variant PACA-AU 6 152127144 152127144 single base substitution C G intron_variant PACA-AU 6 152127144 152127144 single base substitution C G upstream_gene_variant PACA-AU 6 152129609 152129609 single base substitution C T downstream_gene_variant PACA-AU 6 152129609 152129609 single base substitution C T intron_variant PACA-AU 6 152129609 152129609 single base substitution C T upstream_gene_variant PACA-AU 6 152131283 152131283 single base substitution C T downstream_gene_variant PACA-AU 6 152131283 152131283 single base substitution C T intron_variant PACA-AU 6 152132170 152132170 single base substitution C G downstream_gene_variant PACA-AU 6 152132170 152132170 single base substitution C G exon_variant PACA-AU 6 152132170 152132170 single base substitution C G intron_variant PACA-AU 6 152135272 152135272 single base substitution T G downstream_gene_variant PACA-AU 6 152135272 152135272 single base substitution T G intron_variant PACA-AU 6 152138092 152138092 single base substitution G T intron_variant PACA-AU 6 152144852 152144852 single base substitution C T intron_variant PACA-AU 6 152147900 152147900 single base substitution A G intron_variant PACA-AU 6 152151615 152151617 deletion of <=200bp AAG - intron_variant PACA-AU 6 152154476 152154476 single base substitution G A intron_variant PACA-AU 6 152157400 152157400 single base substitution C G intron_variant PACA-AU 6 152159270 152159270 single base substitution G A intron_variant PACA-AU 6 152160545 152160545 single base substitution C A intron_variant PACA-AU 6 152163717 152163717 deletion of <=200bp T - intron_variant PACA-AU 6 152167263 152167263 single base substitution G A intron_variant PACA-AU 6 152169629 152169629 single base substitution A T intron_variant PACA-AU 6 152169962 152169962 single base substitution T G intron_variant PACA-AU 6 152172788 152172788 single base substitution G A intron_variant PACA-AU 6 152172851 152172851 single base substitution C G intron_variant PACA-AU 6 152174332 152174332 single base substitution A G intron_variant PACA-AU 6 152175569 152175569 single base substitution C T intron_variant PACA-AU 6 152175571 152175571 single base substitution G T intron_variant PACA-AU 6 152175849 152175849 single base substitution A G intron_variant PACA-AU 6 152177470 152177470 single base substitution C T intron_variant PACA-AU 6 152179074 152179074 single base substitution T G intron_variant PACA-AU 6 152184925 152184925 single base substitution G A intron_variant PACA-AU 6 152188743 152188743 single base substitution C T intron_variant PACA-AU 6 152193184 152193184 insertion of <=200bp - A intron_variant PACA-AU 6 152194946 152194946 single base substitution C G intron_variant PACA-AU 6 152195235 152195235 single base substitution T A intron_variant PACA-AU 6 152197531 152197531 single base substitution C T intron_variant PACA-AU 6 152197531 152197531 single base substitution C T upstream_gene_variant PACA-AU 6 152199047 152199047 single base substitution C T intron_variant PACA-AU 6 152199047 152199047 single base substitution C T upstream_gene_variant PACA-AU 6 152203926 152203926 single base substitution C T intron_variant PACA-AU 6 152204722 152204722 single base substitution G A intron_variant PACA-AU 6 152206523 152206523 single base substitution C A intron_variant PACA-AU 6 152206811 152206811 single base substitution C T intron_variant PACA-AU 6 152207085 152207085 single base substitution G C intron_variant PACA-AU 6 152209703 152209703 single base substitution T C intron_variant PACA-AU 6 152212146 152212146 single base substitution C T intron_variant PACA-AU 6 152212279 152212279 deletion of <=200bp T - intron_variant PACA-AU 6 152216148 152216148 single base substitution C T intron_variant PACA-AU 6 152218265 152218265 single base substitution G A intron_variant PACA-AU 6 152218956 152218956 single base substitution T C intron_variant PACA-AU 6 152220584 152220584 single base substitution C T intron_variant PACA-AU 6 152225496 152225496 single base substitution G T intron_variant PACA-AU 6 152229407 152229407 single base substitution G A intron_variant PACA-AU 6 152229970 152229970 single base substitution G A intron_variant PACA-AU 6 152230775 152230775 single base substitution G C intron_variant PACA-AU 6 152232018 152232018 single base substitution C T intron_variant PACA-AU 6 152234080 152234080 single base substitution G A intron_variant PACA-AU 6 152236368 152236368 single base substitution T G intron_variant PACA-AU 6 152237164 152237164 single base substitution A C intron_variant PACA-AU 6 152240728 152240728 single base substitution C T intron_variant PACA-AU 6 152242807 152242807 single base substitution C A intron_variant PACA-AU 6 152245788 152245788 single base substitution A G intron_variant PACA-AU 6 152250044 152250044 single base substitution G A intron_variant PACA-AU 6 152251906 152251906 single base substitution C A intron_variant PACA-AU 6 152258010 152258010 single base substitution G T intron_variant PACA-AU 6 152263354 152263354 single base substitution C T intron_variant PACA-AU 6 152263354 152263354 single base substitution C T upstream_gene_variant PACA-AU 6 152264026 152264026 single base substitution C A intron_variant PACA-AU 6 152264026 152264026 single base substitution C A upstream_gene_variant PACA-AU 6 152268174 152268174 single base substitution C T intron_variant PACA-AU 6 152268376 152268376 single base substitution C G intron_variant PACA-AU 6 152271095 152271095 single base substitution C A intron_variant PACA-AU 6 152273308 152273308 single base substitution A G intron_variant PACA-AU 6 152279451 152279451 single base substitution A G intron_variant PACA-AU 6 152288449 152288449 single base substitution C A intron_variant PACA-AU 6 152292750 152292750 deletion of <=200bp T - intron_variant PACA-AU 6 152292756 152292756 single base substitution T C intron_variant PACA-AU 6 152294126 152294126 single base substitution G A intron_variant PACA-AU 6 152294644 152294644 single base substitution G T intron_variant PACA-AU 6 152297680 152297680 single base substitution T G intron_variant PACA-AU 6 152299101 152299101 single base substitution A G intron_variant PACA-AU 6 152299232 152299232 single base substitution G T intron_variant PACA-AU 6 152299634 152299634 single base substitution C T intron_variant PACA-AU 6 152309550 152309550 single base substitution T C downstream_gene_variant PACA-AU 6 152309550 152309550 single base substitution T C intron_variant PACA-AU 6 152310748 152310748 single base substitution C A intron_variant PACA-AU 6 152311285 152311285 single base substitution C G intron_variant PACA-AU 6 152313634 152313634 single base substitution G C intron_variant PACA-AU 6 152314982 152314982 single base substitution G A intron_variant PACA-AU 6 152315091 152315091 single base substitution A G intron_variant PACA-AU 6 152320450 152320459 deletion of <=200bp TTTCACAGAG - intron_variant PACA-AU 6 152324089 152324089 single base substitution G A intron_variant PACA-AU 6 152326143 152326143 single base substitution C T intron_variant PACA-AU 6 152329096 152329096 single base substitution C T intron_variant PACA-AU 6 152329370 152329370 single base substitution C T intron_variant PACA-AU 6 152333191 152333191 single base substitution T A intron_variant PACA-AU 6 152333193 152333193 single base substitution T A intron_variant PACA-AU 6 152336855 152336855 single base substitution A C intron_variant PACA-AU 6 152339561 152339561 single base substitution A T intron_variant PACA-AU 6 152340649 152340649 single base substitution A C intron_variant PACA-AU 6 152343612 152343612 single base substitution C T intron_variant PACA-AU 6 152343872 152343872 single base substitution C T intron_variant PACA-AU 6 152350278 152350278 single base substitution G A intron_variant PACA-AU 6 152350913 152350913 single base substitution G A intron_variant PACA-AU 6 152356990 152356990 single base substitution C G intron_variant PACA-AU 6 152357904 152357904 single base substitution A G intron_variant PACA-AU 6 152362155 152362155 single base substitution G A intron_variant PACA-AU 6 152364531 152364531 single base substitution G A intron_variant PACA-AU 6 152373194 152373194 single base substitution G A intron_variant PACA-AU 6 152376533 152376533 single base substitution C T intron_variant PACA-AU 6 152377977 152377977 single base substitution G A intron_variant PACA-AU 6 152386913 152386913 single base substitution C A downstream_gene_variant PACA-AU 6 152386913 152386913 single base substitution C A intron_variant PACA-AU 6 152387095 152387095 single base substitution G A downstream_gene_variant PACA-AU 6 152387095 152387095 single base substitution G A intron_variant PACA-AU 6 152389697 152389697 single base substitution C T intron_variant PACA-AU 6 152393210 152393210 single base substitution G A intron_variant PACA-AU 6 152393218 152393218 single base substitution C T intron_variant PACA-AU 6 152396106 152396106 single base substitution T A intron_variant PACA-AU 6 152396122 152396122 single base substitution C G intron_variant PACA-AU 6 152396931 152396931 single base substitution A C intron_variant PACA-AU 6 152399778 152399778 single base substitution G A intron_variant PACA-AU 6 152400617 152400617 single base substitution T C intron_variant PACA-AU 6 152400772 152400772 single base substitution G C intron_variant PACA-AU 6 152401202 152401202 single base substitution C T intron_variant PACA-AU 6 152403293 152403293 single base substitution A G intron_variant PACA-AU 6 152409108 152409108 single base substitution A C intron_variant PACA-AU 6 152409509 152409509 single base substitution T C intron_variant PACA-AU 6 152410708 152410708 single base substitution C G intron_variant PACA-AU 6 152410750 152410750 single base substitution G A intron_variant PACA-AU 6 152414489 152414489 single base substitution T C intron_variant PACA-AU 6 152414948 152414948 single base substitution C A intron_variant PACA-AU 6 152421802 152421802 deletion of <=200bp G - 3_prime_UTR_variant PACA-AU 6 152421802 152421802 deletion of <=200bp G - downstream_gene_variant PACA-AU 6 152421802 152421802 deletion of <=200bp G - intron_variant PACA-AU 6 152431660 152431660 deletion of <=200bp G - intron_variant PACA-AU 6 152431743 152431743 single base substitution C A intron_variant PACA-AU 6 152442901 152442901 single base substitution A C intron_variant PACA-AU 6 152443456 152443456 single base substitution C T intron_variant PACA-AU 6 152443733 152443733 single base substitution G C intron_variant PACA-AU 6 152444190 152444190 deletion of <=200bp G - intron_variant PACA-AU 6 152445892 152445892 single base substitution T C intron_variant PACA-AU 6 152447057 152447057 single base substitution T C 3_prime_UTR_variant PACA-AU 6 152452163 152452163 single base substitution T A downstream_gene_variant PACA-AU 6 152455552 152455552 single base substitution C T downstream_gene_variant PACA-CA 6 151974282 151974282 single base substitution T C upstream_gene_variant PACA-CA 6 151975141 151975141 single base substitution G A upstream_gene_variant PACA-CA 6 151977367 151977367 single base substitution A C upstream_gene_variant PACA-CA 6 151977374 151977374 single base substitution T G upstream_gene_variant PACA-CA 6 151977753 151977753 deletion of <=200bp A - upstream_gene_variant PACA-CA 6 151977897 151977897 single base substitution A T splice_region_variant PACA-CA 6 151980768 151980768 single base substitution G T intron_variant PACA-CA 6 151982256 151982256 insertion of <=200bp - A intron_variant PACA-CA 6 151991857 151991857 single base substitution T C intron_variant PACA-CA 6 151993259 151993259 single base substitution C A intron_variant PACA-CA 6 151993395 151993395 single base substitution C T intron_variant PACA-CA 6 151995719 151995719 single base substitution G T intron_variant PACA-CA 6 152000773 152000773 single base substitution G A intron_variant PACA-CA 6 152001119 152001119 single base substitution G A intron_variant PACA-CA 6 152005149 152005149 single base substitution G A intron_variant PACA-CA 6 152007559 152007559 single base substitution G A intron_variant PACA-CA 6 152007559 152007559 single base substitution G A upstream_gene_variant PACA-CA 6 152013648 152013648 single base substitution C T intron_variant PACA-CA 6 152014037 152014037 single base substitution G A intron_variant PACA-CA 6 152014363 152014379 deletion of <=200bp TGGTACTCAATACATGT - intron_variant PACA-CA 6 152017634 152017634 single base substitution T C intron_variant PACA-CA 6 152019793 152019793 single base substitution A G intron_variant PACA-CA 6 152019803 152019803 single base substitution G T intron_variant PACA-CA 6 152023583 152023583 single base substitution T A intron_variant PACA-CA 6 152025326 152025326 insertion of <=200bp - T intron_variant PACA-CA 6 152029314 152029314 single base substitution G A intron_variant PACA-CA 6 152031100 152031100 single base substitution T A intron_variant PACA-CA 6 152032957 152032957 single base substitution C T intron_variant PACA-CA 6 152037945 152037945 single base substitution G C intron_variant PACA-CA 6 152039656 152039656 deletion of <=200bp A - intron_variant PACA-CA 6 152047293 152047293 single base substitution T C intron_variant PACA-CA 6 152048497 152048497 single base substitution C T intron_variant PACA-CA 6 152048706 152048706 deletion of <=200bp T - intron_variant PACA-CA 6 152051692 152051692 single base substitution G T intron_variant PACA-CA 6 152053878 152053878 insertion of <=200bp - T intron_variant PACA-CA 6 152055171 152055171 single base substitution G A intron_variant PACA-CA 6 152058181 152058181 single base substitution A G intron_variant PACA-CA 6 152061792 152061792 single base substitution C T intron_variant PACA-CA 6 152062702 152062702 single base substitution T A intron_variant PACA-CA 6 152062795 152062795 deletion of <=200bp T - intron_variant PACA-CA 6 152067876 152067876 single base substitution G A intron_variant PACA-CA 6 152068033 152068033 single base substitution G A intron_variant PACA-CA 6 152068688 152068688 insertion of <=200bp - T intron_variant PACA-CA 6 152071165 152071165 single base substitution C T intron_variant PACA-CA 6 152071166 152071166 single base substitution A T intron_variant PACA-CA 6 152071544 152071544 single base substitution C T intron_variant PACA-CA 6 152074323 152074323 single base substitution G C intron_variant PACA-CA 6 152078194 152078194 single base substitution A T intron_variant PACA-CA 6 152078440 152078440 single base substitution A T intron_variant PACA-CA 6 152079084 152079084 single base substitution G A intron_variant PACA-CA 6 152085411 152085411 insertion of <=200bp - T intron_variant PACA-CA 6 152091422 152091422 single base substitution T C intron_variant PACA-CA 6 152100015 152100015 single base substitution C A intron_variant PACA-CA 6 152100783 152100783 single base substitution A G intron_variant PACA-CA 6 152100949 152100949 single base substitution C T intron_variant PACA-CA 6 152100974 152100974 single base substitution G T intron_variant PACA-CA 6 152104285 152104285 single base substitution G T intron_variant PACA-CA 6 152109310 152109310 single base substitution C A intron_variant PACA-CA 6 152110562 152110562 single base substitution C G intron_variant PACA-CA 6 152111535 152111535 single base substitution G A intron_variant PACA-CA 6 152114274 152114274 single base substitution C A intron_variant PACA-CA 6 152116153 152116153 single base substitution T C intron_variant PACA-CA 6 152122728 152122728 insertion of <=200bp - T intron_variant PACA-CA 6 152122728 152122728 insertion of <=200bp - T upstream_gene_variant PACA-CA 6 152127660 152127660 insertion of <=200bp - TATATATATATAT intron_variant PACA-CA 6 152127660 152127660 insertion of <=200bp - TATATATATATAT upstream_gene_variant PACA-CA 6 152127711 152127711 single base substitution G T intron_variant PACA-CA 6 152127711 152127711 single base substitution G T upstream_gene_variant PACA-CA 6 152128928 152128928 single base substitution C T 5_prime_UTR_variant PACA-CA 6 152128928 152128928 single base substitution C T intron_variant PACA-CA 6 152128928 152128928 single base substitution C T upstream_gene_variant PACA-CA 6 152129713 152129713 insertion of <=200bp - A downstream_gene_variant PACA-CA 6 152129713 152129713 insertion of <=200bp - A intron_variant PACA-CA 6 152129713 152129713 insertion of <=200bp - A upstream_gene_variant PACA-CA 6 152134530 152134530 single base substitution C T downstream_gene_variant PACA-CA 6 152134530 152134530 single base substitution C T intron_variant PACA-CA 6 152136678 152136678 single base substitution T C downstream_gene_variant PACA-CA 6 152136678 152136678 single base substitution T C intron_variant PACA-CA 6 152138196 152138196 single base substitution T A intron_variant PACA-CA 6 152139959 152139959 single base substitution C T intron_variant PACA-CA 6 152139978 152139978 insertion of <=200bp - AT intron_variant PACA-CA 6 152141453 152141453 single base substitution T A intron_variant PACA-CA 6 152143063 152143063 single base substitution G A intron_variant PACA-CA 6 152145516 152145516 single base substitution C G intron_variant PACA-CA 6 152145752 152145752 single base substitution A C intron_variant PACA-CA 6 152148580 152148580 single base substitution C T intron_variant PACA-CA 6 152149330 152149330 single base substitution G T intron_variant PACA-CA 6 152150157 152150157 single base substitution C G intron_variant PACA-CA 6 152151087 152151087 single base substitution A T intron_variant PACA-CA 6 152151450 152151450 single base substitution T C intron_variant PACA-CA 6 152152729 152152729 single base substitution G A intron_variant PACA-CA 6 152154460 152154460 single base substitution C A intron_variant PACA-CA 6 152155299 152155299 single base substitution G C intron_variant PACA-CA 6 152159237 152159237 single base substitution C T intron_variant PACA-CA 6 152160835 152160835 single base substitution C A intron_variant PACA-CA 6 152161732 152161732 single base substitution G T intron_variant PACA-CA 6 152165082 152165082 single base substitution C T intron_variant PACA-CA 6 152169007 152169007 insertion of <=200bp - CT intron_variant PACA-CA 6 152171599 152171599 single base substitution A G intron_variant PACA-CA 6 152171684 152171684 single base substitution A C intron_variant PACA-CA 6 152172910 152172910 single base substitution G A intron_variant PACA-CA 6 152178571 152178571 single base substitution C T intron_variant PACA-CA 6 152181433 152181433 single base substitution C T intron_variant PACA-CA 6 152184915 152184915 single base substitution T G intron_variant PACA-CA 6 152184919 152184919 single base substitution A C intron_variant PACA-CA 6 152186314 152186314 single base substitution A C intron_variant PACA-CA 6 152186418 152186418 single base substitution A G intron_variant PACA-CA 6 152188489 152188489 single base substitution G A intron_variant PACA-CA 6 152190895 152190895 single base substitution A T intron_variant PACA-CA 6 152191446 152191446 single base substitution A T intron_variant PACA-CA 6 152193507 152193507 single base substitution A G intron_variant PACA-CA 6 152193837 152193837 single base substitution C G intron_variant PACA-CA 6 152196024 152196024 single base substitution G T intron_variant PACA-CA 6 152197404 152197404 single base substitution C T intron_variant PACA-CA 6 152197404 152197404 single base substitution C T upstream_gene_variant PACA-CA 6 152198448 152198448 insertion of <=200bp - A intron_variant PACA-CA 6 152198448 152198448 insertion of <=200bp - A upstream_gene_variant PACA-CA 6 152200484 152200484 single base substitution G T intron_variant PACA-CA 6 152200484 152200484 single base substitution G T upstream_gene_variant PACA-CA 6 152201378 152201378 single base substitution C T intron_variant PACA-CA 6 152201378 152201378 single base substitution C T upstream_gene_variant PACA-CA 6 152201594 152201594 single base substitution G T intron_variant PACA-CA 6 152201594 152201594 single base substitution G T upstream_gene_variant PACA-CA 6 152207565 152207565 deletion of <=200bp G - intron_variant PACA-CA 6 152207567 152207586 deletion of <=200bp CTTTATTTATTTTAATAACA - intron_variant PACA-CA 6 152207946 152207946 single base substitution C T intron_variant PACA-CA 6 152210449 152210449 single base substitution T A intron_variant PACA-CA 6 152210895 152210895 single base substitution C A intron_variant PACA-CA 6 152211975 152211975 insertion of <=200bp - T intron_variant PACA-CA 6 152212924 152212924 single base substitution C T intron_variant PACA-CA 6 152214090 152214090 single base substitution G A intron_variant PACA-CA 6 152215880 152215880 single base substitution C T intron_variant PACA-CA 6 152216132 152216132 single base substitution A T intron_variant PACA-CA 6 152216258 152216258 insertion of <=200bp - T intron_variant PACA-CA 6 152216262 152216262 single base substitution T C intron_variant PACA-CA 6 152216761 152216761 single base substitution A G intron_variant PACA-CA 6 152217121 152217121 single base substitution C T intron_variant PACA-CA 6 152220286 152220286 single base substitution C T intron_variant PACA-CA 6 152222865 152222865 single base substitution C T intron_variant PACA-CA 6 152224834 152224834 single base substitution G A intron_variant PACA-CA 6 152227975 152227975 single base substitution A G intron_variant PACA-CA 6 152228931 152228931 single base substitution G T intron_variant PACA-CA 6 152233545 152233545 insertion of <=200bp - T intron_variant PACA-CA 6 152235257 152235257 single base substitution C A intron_variant PACA-CA 6 152235902 152235902 single base substitution A T intron_variant PACA-CA 6 152236306 152236306 single base substitution G A intron_variant PACA-CA 6 152237006 152237006 single base substitution A C intron_variant PACA-CA 6 152237211 152237211 single base substitution G A intron_variant PACA-CA 6 152242016 152242016 single base substitution C T intron_variant PACA-CA 6 152242440 152242440 single base substitution G A intron_variant PACA-CA 6 152242642 152242643 deletion of <=200bp TA - intron_variant PACA-CA 6 152242646 152242655 deletion of <=200bp CCATCTTCCT - intron_variant PACA-CA 6 152242793 152242793 single base substitution G A intron_variant PACA-CA 6 152243765 152243765 single base substitution T C intron_variant PACA-CA 6 152245906 152245906 insertion of <=200bp - T intron_variant PACA-CA 6 152245959 152245959 single base substitution T A intron_variant PACA-CA 6 152246816 152246816 deletion of <=200bp T - intron_variant PACA-CA 6 152248004 152248004 single base substitution G T intron_variant PACA-CA 6 152255152 152255152 single base substitution C A intron_variant PACA-CA 6 152255334 152255334 single base substitution T C intron_variant PACA-CA 6 152257312 152257312 single base substitution C A intron_variant PACA-CA 6 152259274 152259274 single base substitution G C intron_variant PACA-CA 6 152259387 152259387 single base substitution G T intron_variant PACA-CA 6 152259500 152259500 single base substitution G T intron_variant PACA-CA 6 152259523 152259523 single base substitution G A intron_variant PACA-CA 6 152259551 152259551 single base substitution G C intron_variant PACA-CA 6 152259726 152259726 single base substitution G A intron_variant PACA-CA 6 152259758 152259758 single base substitution G C intron_variant PACA-CA 6 152259942 152259942 single base substitution G C intron_variant PACA-CA 6 152260040 152260040 single base substitution G A intron_variant PACA-CA 6 152260108 152260108 single base substitution G C intron_variant PACA-CA 6 152260168 152260168 single base substitution G A intron_variant PACA-CA 6 152260178 152260178 single base substitution G T intron_variant PACA-CA 6 152260372 152260372 single base substitution G A intron_variant PACA-CA 6 152260372 152260372 single base substitution G A upstream_gene_variant PACA-CA 6 152260420 152260420 single base substitution G A intron_variant PACA-CA 6 152260420 152260420 single base substitution G A upstream_gene_variant PACA-CA 6 152260557 152260557 single base substitution G A intron_variant PACA-CA 6 152260557 152260557 single base substitution G A upstream_gene_variant PACA-CA 6 152260581 152260581 single base substitution G C intron_variant PACA-CA 6 152260581 152260581 single base substitution G C upstream_gene_variant PACA-CA 6 152260770 152260770 single base substitution G C intron_variant PACA-CA 6 152260770 152260770 single base substitution G C upstream_gene_variant PACA-CA 6 152260856 152260856 single base substitution G A intron_variant PACA-CA 6 152260856 152260856 single base substitution G A upstream_gene_variant PACA-CA 6 152260954 152260954 single base substitution G T intron_variant PACA-CA 6 152260954 152260954 single base substitution G T upstream_gene_variant PACA-CA 6 152261001 152261001 single base substitution G A intron_variant PACA-CA 6 152261001 152261001 single base substitution G A upstream_gene_variant PACA-CA 6 152261091 152261091 single base substitution G T intron_variant PACA-CA 6 152261091 152261091 single base substitution G T upstream_gene_variant PACA-CA 6 152261223 152261223 single base substitution G T intron_variant PACA-CA 6 152261223 152261223 single base substitution G T upstream_gene_variant PACA-CA 6 152261258 152261258 single base substitution A G intron_variant PACA-CA 6 152261258 152261258 single base substitution A G upstream_gene_variant PACA-CA 6 152261292 152261292 single base substitution G C intron_variant PACA-CA 6 152261292 152261292 single base substitution G C upstream_gene_variant PACA-CA 6 152261320 152261320 single base substitution G T intron_variant PACA-CA 6 152261320 152261320 single base substitution G T upstream_gene_variant PACA-CA 6 152261330 152261330 single base substitution G C intron_variant PACA-CA 6 152261330 152261330 single base substitution G C upstream_gene_variant PACA-CA 6 152261451 152261451 single base substitution G T intron_variant PACA-CA 6 152261451 152261451 single base substitution G T upstream_gene_variant PACA-CA 6 152261538 152261538 single base substitution G A intron_variant PACA-CA 6 152261538 152261538 single base substitution G A upstream_gene_variant PACA-CA 6 152261546 152261546 single base substitution G C intron_variant PACA-CA 6 152261546 152261546 single base substitution G C upstream_gene_variant PACA-CA 6 152261998 152261998 single base substitution G A intron_variant PACA-CA 6 152261998 152261998 single base substitution G A upstream_gene_variant PACA-CA 6 152262044 152262044 single base substitution G A intron_variant PACA-CA 6 152262044 152262044 single base substitution G A upstream_gene_variant PACA-CA 6 152262093 152262093 single base substitution G T intron_variant PACA-CA 6 152262093 152262093 single base substitution G T upstream_gene_variant PACA-CA 6 152262207 152262207 single base substitution G T intron_variant PACA-CA 6 152262207 152262207 single base substitution G T upstream_gene_variant PACA-CA 6 152262223 152262223 single base substitution G A intron_variant PACA-CA 6 152262223 152262223 single base substitution G A upstream_gene_variant PACA-CA 6 152262430 152262430 single base substitution G A intron_variant PACA-CA 6 152262430 152262430 single base substitution G A upstream_gene_variant PACA-CA 6 152262462 152262462 single base substitution G C intron_variant PACA-CA 6 152262462 152262462 single base substitution G C upstream_gene_variant PACA-CA 6 152262497 152262497 single base substitution G A intron_variant PACA-CA 6 152262497 152262497 single base substitution G A upstream_gene_variant PACA-CA 6 152262586 152262586 single base substitution G A intron_variant PACA-CA 6 152262586 152262586 single base substitution G A upstream_gene_variant PACA-CA 6 152262593 152262593 single base substitution G A intron_variant PACA-CA 6 152262593 152262593 single base substitution G A upstream_gene_variant PACA-CA 6 152262709 152262709 single base substitution G T intron_variant PACA-CA 6 152262709 152262709 single base substitution G T upstream_gene_variant PACA-CA 6 152262760 152262760 single base substitution G A intron_variant PACA-CA 6 152262760 152262760 single base substitution G A upstream_gene_variant PACA-CA 6 152262784 152262784 single base substitution G C intron_variant PACA-CA 6 152262784 152262784 single base substitution G C upstream_gene_variant PACA-CA 6 152262875 152262875 single base substitution G A intron_variant PACA-CA 6 152262875 152262875 single base substitution G A upstream_gene_variant PACA-CA 6 152262933 152262933 single base substitution G C intron_variant PACA-CA 6 152262933 152262933 single base substitution G C upstream_gene_variant PACA-CA 6 152263037 152263037 single base substitution G T intron_variant PACA-CA 6 152263037 152263037 single base substitution G T upstream_gene_variant PACA-CA 6 152263039 152263039 single base substitution G A intron_variant PACA-CA 6 152263039 152263039 single base substitution G A upstream_gene_variant PACA-CA 6 152263154 152263154 single base substitution G C intron_variant PACA-CA 6 152263154 152263154 single base substitution G C upstream_gene_variant PACA-CA 6 152263315 152263315 single base substitution G A intron_variant PACA-CA 6 152263315 152263315 single base substitution G A upstream_gene_variant PACA-CA 6 152263479 152263479 single base substitution G C intron_variant PACA-CA 6 152263479 152263479 single base substitution G C upstream_gene_variant PACA-CA 6 152263560 152263560 single base substitution G T intron_variant PACA-CA 6 152263560 152263560 single base substitution G T upstream_gene_variant PACA-CA 6 152263569 152263569 single base substitution G C intron_variant PACA-CA 6 152263569 152263569 single base substitution G C upstream_gene_variant PACA-CA 6 152263692 152263692 single base substitution G A intron_variant PACA-CA 6 152263692 152263692 single base substitution G A upstream_gene_variant PACA-CA 6 152263724 152263724 single base substitution G A intron_variant PACA-CA 6 152263724 152263724 single base substitution G A upstream_gene_variant PACA-CA 6 152263843 152263843 single base substitution G T intron_variant PACA-CA 6 152263843 152263843 single base substitution G T upstream_gene_variant PACA-CA 6 152263890 152263890 single base substitution G A intron_variant PACA-CA 6 152263890 152263890 single base substitution G A upstream_gene_variant PACA-CA 6 152263926 152263926 single base substitution G C intron_variant PACA-CA 6 152263926 152263926 single base substitution G C upstream_gene_variant PACA-CA 6 152264844 152264844 single base substitution T A intron_variant PACA-CA 6 152264844 152264844 single base substitution T A upstream_gene_variant PACA-CA 6 152265553 152265553 single base substitution C G exon_variant PACA-CA 6 152265553 152265553 single base substitution C G intron_variant PACA-CA 6 152265553 152265553 single base substitution C G missense_variant P163A 487C>G PACA-CA 6 152265553 152265553 single base substitution C G missense_variant P336A 1006C>G PACA-CA 6 152265779 152265779 single base substitution C T intron_variant PACA-CA 6 152266984 152266984 single base substitution T C intron_variant PACA-CA 6 152271552 152271552 single base substitution T C intron_variant PACA-CA 6 152274804 152274804 single base substitution C T intron_variant PACA-CA 6 152275576 152275576 single base substitution G A intron_variant PACA-CA 6 152277865 152277865 insertion of <=200bp - A intron_variant PACA-CA 6 152278098 152278098 single base substitution G A intron_variant PACA-CA 6 152278730 152278730 single base substitution C T intron_variant PACA-CA 6 152279986 152279986 single base substitution C T intron_variant PACA-CA 6 152281873 152281873 single base substitution A G intron_variant PACA-CA 6 152287496 152287496 single base substitution G A intron_variant PACA-CA 6 152289015 152289015 single base substitution C A intron_variant PACA-CA 6 152291276 152291276 single base substitution G C intron_variant PACA-CA 6 152291286 152291286 single base substitution C T intron_variant PACA-CA 6 152291453 152291453 single base substitution G A intron_variant PACA-CA 6 152293276 152293276 single base substitution C T intron_variant PACA-CA 6 152293387 152293387 single base substitution G T intron_variant PACA-CA 6 152296074 152296074 single base substitution G A intron_variant PACA-CA 6 152296605 152296605 single base substitution A T intron_variant PACA-CA 6 152296662 152296662 single base substitution G A intron_variant PACA-CA 6 152297016 152297016 single base substitution G A intron_variant PACA-CA 6 152297773 152297773 single base substitution T C intron_variant PACA-CA 6 152298326 152298326 single base substitution G A intron_variant PACA-CA 6 152301055 152301055 single base substitution T G intron_variant PACA-CA 6 152301143 152301143 insertion of <=200bp - T intron_variant PACA-CA 6 152304731 152304731 insertion of <=200bp - A intron_variant PACA-CA 6 152305440 152305440 single base substitution T A downstream_gene_variant PACA-CA 6 152305440 152305440 single base substitution T A intron_variant PACA-CA 6 152307023 152307023 single base substitution C A downstream_gene_variant PACA-CA 6 152307023 152307023 single base substitution C A intron_variant PACA-CA 6 152309019 152309019 insertion of <=200bp - TA downstream_gene_variant PACA-CA 6 152309019 152309019 insertion of <=200bp - TA intron_variant PACA-CA 6 152310073 152310073 insertion of <=200bp - T downstream_gene_variant PACA-CA 6 152310073 152310073 insertion of <=200bp - T intron_variant PACA-CA 6 152310491 152310491 single base substitution C T intron_variant PACA-CA 6 152315326 152315326 single base substitution G A intron_variant PACA-CA 6 152316040 152316040 single base substitution G A intron_variant PACA-CA 6 152318216 152318216 single base substitution C A intron_variant PACA-CA 6 152318439 152318439 single base substitution A G intron_variant PACA-CA 6 152319350 152319350 single base substitution A T intron_variant PACA-CA 6 152320921 152320921 single base substitution A G intron_variant PACA-CA 6 152321053 152321053 single base substitution A G intron_variant PACA-CA 6 152321652 152321652 deletion of <=200bp T - intron_variant PACA-CA 6 152322699 152322699 single base substitution T C intron_variant PACA-CA 6 152325493 152325493 single base substitution T C intron_variant PACA-CA 6 152329961 152329961 single base substitution G A intron_variant PACA-CA 6 152330148 152330148 single base substitution C T intron_variant PACA-CA 6 152332858 152332858 single base substitution G A intron_variant PACA-CA 6 152332858 152332858 single base substitution G A missense_variant M215I 645G>A PACA-CA 6 152332858 152332858 single base substitution G A missense_variant M276I 828G>A PACA-CA 6 152332858 152332858 single base substitution G A missense_variant M388I 1164G>A PACA-CA 6 152332858 152332858 single base substitution G A missense_variant M61I 183G>A PACA-CA 6 152333185 152333185 insertion of <=200bp - CT intron_variant PACA-CA 6 152333403 152333403 single base substitution G A intron_variant PACA-CA 6 152334266 152334266 single base substitution T G intron_variant PACA-CA 6 152335970 152335970 single base substitution A C intron_variant PACA-CA 6 152337763 152337763 single base substitution G A intron_variant PACA-CA 6 152338013 152338013 single base substitution C T intron_variant PACA-CA 6 152338338 152338338 single base substitution C T intron_variant PACA-CA 6 152340081 152340082 deletion of <=200bp AA - intron_variant PACA-CA 6 152340581 152340581 single base substitution A G intron_variant PACA-CA 6 152342219 152342219 single base substitution C A intron_variant PACA-CA 6 152342456 152342456 single base substitution G A intron_variant PACA-CA 6 152343166 152343166 single base substitution C T intron_variant PACA-CA 6 152343708 152343708 single base substitution T G intron_variant PACA-CA 6 152344176 152344176 single base substitution G A intron_variant PACA-CA 6 152345954 152345954 single base substitution T C intron_variant PACA-CA 6 152347188 152347188 single base substitution T A intron_variant PACA-CA 6 152347195 152347195 single base substitution C A intron_variant PACA-CA 6 152349542 152349542 single base substitution G A intron_variant PACA-CA 6 152350125 152350125 single base substitution C T intron_variant PACA-CA 6 152350278 152350278 single base substitution G A intron_variant PACA-CA 6 152353323 152353323 single base substitution T C intron_variant PACA-CA 6 152355264 152355264 single base substitution C T intron_variant PACA-CA 6 152358830 152358830 single base substitution G A intron_variant PACA-CA 6 152359527 152359527 single base substitution T C intron_variant PACA-CA 6 152361468 152361468 single base substitution G A intron_variant PACA-CA 6 152363714 152363714 single base substitution G T intron_variant PACA-CA 6 152364109 152364109 insertion of <=200bp - TATAA intron_variant PACA-CA 6 152366849 152366849 single base substitution A G intron_variant PACA-CA 6 152367230 152367230 deletion of <=200bp C - intron_variant PACA-CA 6 152368010 152368010 single base substitution A C intron_variant PACA-CA 6 152371061 152371084 deletion of <=200bp CTGCCTGAGAGAAATACTCACTTC - intron_variant PACA-CA 6 152371678 152371678 single base substitution G A intron_variant PACA-CA 6 152371704 152371704 single base substitution A G intron_variant PACA-CA 6 152375606 152375606 single base substitution C T intron_variant PACA-CA 6 152376664 152376664 single base substitution G T intron_variant PACA-CA 6 152377170 152377170 single base substitution G C intron_variant PACA-CA 6 152380021 152380021 single base substitution C T intron_variant PACA-CA 6 152382222 152382222 single base substitution G A downstream_gene_variant PACA-CA 6 152382222 152382222 single base substitution G A synonymous_variant E183E 549G>A PACA-CA 6 152382222 152382222 single base substitution G A synonymous_variant E271E 813G>A PACA-CA 6 152382222 152382222 single base substitution G A synonymous_variant E332E 996G>A PACA-CA 6 152382222 152382222 single base substitution G A synonymous_variant E444E 1332G>A PACA-CA 6 152383633 152383633 single base substitution C T downstream_gene_variant PACA-CA 6 152383633 152383633 single base substitution C T intron_variant PACA-CA 6 152388683 152388683 single base substitution A G intron_variant PACA-CA 6 152389758 152389758 deletion of <=200bp T - intron_variant PACA-CA 6 152392078 152392078 single base substitution A G intron_variant PACA-CA 6 152392223 152392223 single base substitution G C intron_variant PACA-CA 6 152392280 152392280 single base substitution C A intron_variant PACA-CA 6 152392377 152392377 single base substitution T G intron_variant PACA-CA 6 152393486 152393486 single base substitution G A intron_variant PACA-CA 6 152394852 152394852 single base substitution C A intron_variant PACA-CA 6 152399664 152399664 single base substitution T G intron_variant PACA-CA 6 152401068 152401068 single base substitution G T intron_variant PACA-CA 6 152402584 152402584 single base substitution C A intron_variant PACA-CA 6 152402916 152402916 single base substitution T A intron_variant PACA-CA 6 152409854 152409854 single base substitution C G intron_variant PACA-CA 6 152413106 152413106 single base substitution G A intron_variant PACA-CA 6 152414214 152414214 single base substitution C T intron_variant PACA-CA 6 152414489 152414489 single base substitution T C intron_variant PACA-CA 6 152420001 152420001 single base substitution C T intron_variant PACA-CA 6 152420001 152420001 single base substitution C T missense_variant T302M 905C>T PACA-CA 6 152420001 152420001 single base substitution C T missense_variant T451M 1352C>T PACA-CA 6 152420001 152420001 single base substitution C T missense_variant T563M 1688C>T PACA-CA 6 152422460 152422460 single base substitution G A 3_prime_UTR_variant PACA-CA 6 152422460 152422460 single base substitution G A downstream_gene_variant PACA-CA 6 152422460 152422460 single base substitution G A intron_variant PACA-CA 6 152425996 152425996 single base substitution C T downstream_gene_variant PACA-CA 6 152425996 152425996 single base substitution C T intron_variant PACA-CA 6 152428321 152428321 single base substitution T C downstream_gene_variant PACA-CA 6 152428321 152428321 single base substitution T C intron_variant PACA-CA 6 152430470 152430470 single base substitution A G intron_variant PACA-CA 6 152430907 152430907 single base substitution G A intron_variant PACA-CA 6 152432505 152432505 single base substitution G A intron_variant PACA-CA 6 152435462 152435462 single base substitution G T intron_variant PACA-CA 6 152438577 152438577 single base substitution C T intron_variant PACA-CA 6 152439040 152439040 single base substitution A C intron_variant PACA-CA 6 152440018 152440018 single base substitution C T intron_variant PACA-CA 6 152440302 152440302 single base substitution A C intron_variant PACA-CA 6 152440771 152440771 single base substitution C T intron_variant PACA-CA 6 152441045 152441045 single base substitution T A intron_variant PACA-CA 6 152444260 152444260 single base substitution A T intron_variant PACA-CA 6 152445176 152445176 single base substitution G C intron_variant PACA-CA 6 152446575 152446575 single base substitution C T 3_prime_UTR_variant PACA-CA 6 152446690 152446690 single base substitution A G 3_prime_UTR_variant PACA-CA 6 152446848 152446848 single base substitution G A 3_prime_UTR_variant PACA-CA 6 152447886 152447898 deletion of <=200bp CTAAAATCACACC - 3_prime_UTR_variant PACA-CA 6 152450604 152450604 single base substitution C T 3_prime_UTR_variant PACA-CA 6 152451273 152451273 single base substitution T A downstream_gene_variant PACA-CA 6 152452497 152452497 single base substitution A G downstream_gene_variant PAEN-AU 6 152000792 152000792 single base substitution G C intron_variant PAEN-AU 6 152047673 152047673 single base substitution G A intron_variant PAEN-AU 6 152071989 152071989 single base substitution C G intron_variant PAEN-AU 6 152139657 152139657 single base substitution T G intron_variant PAEN-AU 6 152153239 152153239 single base substitution T G intron_variant PAEN-AU 6 152191883 152191883 single base substitution T G intron_variant PAEN-AU 6 152203018 152203025 deletion of <=200bp AATAAATA - intron_variant PAEN-AU 6 152203660 152203660 single base substitution G A intron_variant PAEN-AU 6 152220686 152220686 single base substitution C T intron_variant PAEN-AU 6 152229855 152229855 single base substitution A C intron_variant PAEN-AU 6 152258922 152258922 single base substitution A G intron_variant PAEN-AU 6 152269769 152269769 single base substitution C T intron_variant PAEN-AU 6 152283201 152283201 single base substitution G A intron_variant PAEN-AU 6 152292935 152292935 single base substitution C T intron_variant PAEN-AU 6 152335602 152335602 single base substitution C A intron_variant PAEN-AU 6 152337210 152337210 single base substitution T C intron_variant PAEN-AU 6 152353666 152353666 single base substitution T C intron_variant PAEN-AU 6 152356096 152356096 single base substitution A G intron_variant PAEN-AU 6 152356195 152356195 single base substitution C A intron_variant PAEN-AU 6 152359429 152359429 single base substitution C T intron_variant PAEN-AU 6 152377726 152377726 single base substitution G C intron_variant PAEN-IT 6 151980519 151980519 single base substitution C A intron_variant PAEN-IT 6 152001527 152001527 single base substitution C T intron_variant PAEN-IT 6 152025266 152025266 single base substitution T C intron_variant PAEN-IT 6 152093485 152093485 single base substitution A T intron_variant PAEN-IT 6 152104251 152104251 single base substitution C G intron_variant PAEN-IT 6 152130906 152130906 single base substitution A G downstream_gene_variant PAEN-IT 6 152130906 152130906 single base substitution A G intron_variant PAEN-IT 6 152148098 152148098 single base substitution G C intron_variant PAEN-IT 6 152186756 152186756 single base substitution C T intron_variant PAEN-IT 6 152210157 152210157 single base substitution G T intron_variant PAEN-IT 6 152285403 152285403 single base substitution A T intron_variant PAEN-IT 6 152285825 152285825 single base substitution G T intron_variant PAEN-IT 6 152293739 152293739 single base substitution C A intron_variant PAEN-IT 6 152388977 152388977 single base substitution A C intron_variant PAEN-IT 6 152419419 152419419 single base substitution G A intron_variant PBCA-DE 6 151977403 151977403 single base substitution G A upstream_gene_variant PBCA-DE 6 151991580 151991580 single base substitution C A intron_variant PBCA-DE 6 152002912 152002912 single base substitution C T intron_variant PBCA-DE 6 152010104 152010104 insertion of <=200bp - T intron_variant PBCA-DE 6 152010104 152010104 insertion of <=200bp - T upstream_gene_variant PBCA-DE 6 152011352 152011352 insertion of <=200bp - T intron_variant PBCA-DE 6 152011352 152011352 insertion of <=200bp - T upstream_gene_variant PBCA-DE 6 152014500 152014500 single base substitution G T intron_variant PBCA-DE 6 152019659 152019659 single base substitution C A intron_variant PBCA-DE 6 152026707 152026707 single base substitution C A intron_variant PBCA-DE 6 152030387 152030387 single base substitution C T intron_variant PBCA-DE 6 152031306 152031320 deletion of <=200bp ATTGCTTTGATTATA - intron_variant PBCA-DE 6 152033378 152033378 single base substitution G A intron_variant PBCA-DE 6 152033549 152033549 single base substitution C G intron_variant PBCA-DE 6 152038280 152038280 single base substitution C A intron_variant PBCA-DE 6 152047297 152047297 single base substitution C T intron_variant PBCA-DE 6 152048344 152048344 deletion of <=200bp T - intron_variant PBCA-DE 6 152049527 152049527 single base substitution A G intron_variant PBCA-DE 6 152049823 152049823 single base substitution C T intron_variant PBCA-DE 6 152049952 152049952 single base substitution C T intron_variant PBCA-DE 6 152050866 152050866 single base substitution C T intron_variant PBCA-DE 6 152052664 152052664 single base substitution G A intron_variant PBCA-DE 6 152067619 152067619 single base substitution C T intron_variant PBCA-DE 6 152071471 152071471 single base substitution G A intron_variant PBCA-DE 6 152074816 152074816 single base substitution G A intron_variant PBCA-DE 6 152079425 152079425 single base substitution G A intron_variant PBCA-DE 6 152083901 152083901 single base substitution C T intron_variant PBCA-DE 6 152088636 152088636 insertion of <=200bp - A intron_variant PBCA-DE 6 152089936 152089936 single base substitution G A intron_variant PBCA-DE 6 152097584 152097584 single base substitution G A intron_variant PBCA-DE 6 152102407 152102407 single base substitution T C intron_variant PBCA-DE 6 152109214 152109214 single base substitution G A intron_variant PBCA-DE 6 152111990 152111990 single base substitution A T intron_variant PBCA-DE 6 152125884 152125884 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant PBCA-DE 6 152125884 152125884 single base substitution A G intron_variant PBCA-DE 6 152125884 152125884 single base substitution A G upstream_gene_variant PBCA-DE 6 152131005 152131005 insertion of <=200bp - T downstream_gene_variant PBCA-DE 6 152131005 152131005 insertion of <=200bp - T intron_variant PBCA-DE 6 152140115 152140115 single base substitution C A intron_variant PBCA-DE 6 152147478 152147478 single base substitution G A intron_variant PBCA-DE 6 152156196 152156196 single base substitution A G intron_variant PBCA-DE 6 152166754 152166754 single base substitution G A intron_variant PBCA-DE 6 152171519 152171520 deletion of <=200bp AG - intron_variant PBCA-DE 6 152174031 152174031 single base substitution C T intron_variant PBCA-DE 6 152175438 152175438 single base substitution A G intron_variant PBCA-DE 6 152177169 152177169 single base substitution C T intron_variant PBCA-DE 6 152187280 152187280 single base substitution A T intron_variant PBCA-DE 6 152187931 152187931 single base substitution G A intron_variant PBCA-DE 6 152197118 152197118 single base substitution A G intron_variant PBCA-DE 6 152197118 152197118 single base substitution A G upstream_gene_variant PBCA-DE 6 152201775 152201775 insertion of <=200bp - T intron_variant PBCA-DE 6 152201775 152201775 insertion of <=200bp - T upstream_gene_variant PBCA-DE 6 152205533 152205533 single base substitution C T intron_variant PBCA-DE 6 152214160 152214160 single base substitution C G intron_variant PBCA-DE 6 152214326 152214326 insertion of <=200bp - A intron_variant PBCA-DE 6 152214662 152214662 single base substitution C T intron_variant PBCA-DE 6 152215384 152215384 insertion of <=200bp - T intron_variant PBCA-DE 6 152217027 152217027 single base substitution C T intron_variant PBCA-DE 6 152220440 152220440 deletion of <=200bp C - intron_variant PBCA-DE 6 152220687 152220687 deletion of <=200bp G - intron_variant PBCA-DE 6 152220971 152220973 deletion of <=200bp GAT - intron_variant PBCA-DE 6 152231946 152231946 single base substitution A G intron_variant PBCA-DE 6 152234968 152234968 single base substitution C A intron_variant PBCA-DE 6 152235053 152235053 single base substitution A C intron_variant PBCA-DE 6 152235708 152235708 single base substitution T C intron_variant PBCA-DE 6 152241327 152241327 single base substitution C T intron_variant PBCA-DE 6 152243102 152243102 deletion of <=200bp T - intron_variant PBCA-DE 6 152248123 152248123 single base substitution T A intron_variant PBCA-DE 6 152250024 152250024 single base substitution T C intron_variant PBCA-DE 6 152250975 152250975 single base substitution G A intron_variant PBCA-DE 6 152256868 152256868 single base substitution A G intron_variant PBCA-DE 6 152260720 152260720 single base substitution G A intron_variant PBCA-DE 6 152260720 152260720 single base substitution G A upstream_gene_variant PBCA-DE 6 152264282 152264282 single base substitution G A intron_variant PBCA-DE 6 152264282 152264282 single base substitution G A upstream_gene_variant PBCA-DE 6 152267758 152267758 single base substitution C A intron_variant PBCA-DE 6 152270049 152270049 single base substitution C A intron_variant PBCA-DE 6 152275252 152275252 single base substitution C T intron_variant PBCA-DE 6 152280109 152280110 deletion of <=200bp GT - intron_variant PBCA-DE 6 152280553 152280553 insertion of <=200bp - A intron_variant PBCA-DE 6 152285400 152285400 single base substitution T C intron_variant PBCA-DE 6 152286067 152286067 single base substitution G A intron_variant PBCA-DE 6 152286367 152286368 deletion of <=200bp TA - intron_variant PBCA-DE 6 152288461 152288461 single base substitution C T intron_variant PBCA-DE 6 152290597 152290598 deletion of <=200bp TG - intron_variant PBCA-DE 6 152304857 152304857 single base substitution C G intron_variant PBCA-DE 6 152304990 152304990 single base substitution A T intron_variant PBCA-DE 6 152307863 152307863 single base substitution A G downstream_gene_variant PBCA-DE 6 152307863 152307863 single base substitution A G intron_variant PBCA-DE 6 152308039 152308040 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 6 152308039 152308040 deletion of <=200bp TG - intron_variant PBCA-DE 6 152309987 152309987 single base substitution T C downstream_gene_variant PBCA-DE 6 152309987 152309987 single base substitution T C intron_variant PBCA-DE 6 152310147 152310147 single base substitution G A downstream_gene_variant PBCA-DE 6 152310147 152310147 single base substitution G A intron_variant PBCA-DE 6 152311043 152311043 single base substitution G A intron_variant PBCA-DE 6 152311379 152311380 deletion of <=200bp GT - intron_variant PBCA-DE 6 152323321 152323322 deletion of <=200bp GT - intron_variant PBCA-DE 6 152323893 152323893 insertion of <=200bp - A intron_variant PBCA-DE 6 152324476 152324477 deletion of <=200bp TG - intron_variant PBCA-DE 6 152327056 152327059 deletion of <=200bp AAGA - intron_variant PBCA-DE 6 152327445 152327445 single base substitution G A intron_variant PBCA-DE 6 152336142 152336142 single base substitution C T intron_variant PBCA-DE 6 152339185 152339185 single base substitution C A intron_variant PBCA-DE 6 152339894 152339894 single base substitution T A intron_variant PBCA-DE 6 152351308 152351308 single base substitution G T intron_variant PBCA-DE 6 152355295 152355295 single base substitution G T intron_variant PBCA-DE 6 152355709 152355709 single base substitution G A intron_variant PBCA-DE 6 152356400 152356400 insertion of <=200bp - A intron_variant PBCA-DE 6 152370078 152370078 single base substitution T G intron_variant PBCA-DE 6 152376579 152376579 single base substitution G C intron_variant PBCA-DE 6 152390546 152390546 deletion of <=200bp T - intron_variant PBCA-DE 6 152395856 152395856 single base substitution T G intron_variant PBCA-DE 6 152399472 152399472 single base substitution C G intron_variant PBCA-DE 6 152414490 152414491 deletion of <=200bp TC - intron_variant PBCA-DE 6 152419669 152419669 single base substitution G A intron_variant PBCA-DE 6 152422187 152422187 single base substitution G T 3_prime_UTR_variant PBCA-DE 6 152422187 152422187 single base substitution G T downstream_gene_variant PBCA-DE 6 152422187 152422187 single base substitution G T intron_variant PBCA-DE 6 152431004 152431004 insertion of <=200bp - CACCTC intron_variant PBCA-DE 6 152434314 152434314 single base substitution G A intron_variant PBCA-DE 6 152434710 152434711 deletion of <=200bp TG - intron_variant PBCA-DE 6 152440974 152440974 single base substitution G A intron_variant PBCA-DE 6 152442904 152442904 deletion of <=200bp T - intron_variant PBCA-DE 6 152447139 152447139 single base substitution A G 3_prime_UTR_variant PBCA-DE 6 152450947 152450947 single base substitution C T downstream_gene_variant PRAD-CA 6 152012736 152012736 single base substitution T C intron_variant PRAD-CA 6 152023242 152023242 single base substitution A C intron_variant PRAD-CA 6 152038217 152038217 single base substitution C T intron_variant PRAD-CA 6 152042599 152042599 single base substitution C T intron_variant PRAD-CA 6 152078355 152078355 single base substitution C G intron_variant PRAD-CA 6 152094952 152094952 single base substitution C A intron_variant PRAD-CA 6 152096609 152096609 single base substitution G A intron_variant PRAD-CA 6 152110251 152110251 single base substitution A G intron_variant PRAD-CA 6 152116636 152116636 single base substitution A T intron_variant PRAD-CA 6 152127694 152127694 single base substitution C T intron_variant PRAD-CA 6 152127694 152127694 single base substitution C T upstream_gene_variant PRAD-CA 6 152129487 152129487 single base substitution C T downstream_gene_variant PRAD-CA 6 152129487 152129487 single base substitution C T exon_variant PRAD-CA 6 152129487 152129487 single base substitution C T missense_variant P147L 440C>T PRAD-CA 6 152129487 152129487 single base substitution C T upstream_gene_variant PRAD-CA 6 152134130 152134130 single base substitution G T downstream_gene_variant PRAD-CA 6 152134130 152134130 single base substitution G T intron_variant PRAD-CA 6 152150013 152150013 single base substitution C G intron_variant PRAD-CA 6 152158689 152158689 single base substitution C T intron_variant PRAD-CA 6 152185846 152185846 single base substitution A G intron_variant PRAD-CA 6 152189131 152189131 single base substitution G T intron_variant PRAD-CA 6 152206260 152206260 single base substitution C A intron_variant PRAD-CA 6 152217534 152217534 single base substitution C G intron_variant PRAD-CA 6 152218071 152218071 single base substitution A G intron_variant PRAD-CA 6 152234202 152234202 single base substitution C A intron_variant PRAD-CA 6 152237481 152237481 single base substitution A G intron_variant PRAD-CA 6 152250962 152250962 single base substitution A G intron_variant PRAD-CA 6 152268423 152268423 single base substitution C T intron_variant PRAD-CA 6 152271341 152271341 single base substitution G T intron_variant PRAD-CA 6 152302180 152302180 single base substitution T A intron_variant PRAD-CA 6 152314045 152314045 single base substitution C T intron_variant PRAD-CA 6 152333402 152333402 single base substitution C T intron_variant PRAD-CA 6 152336555 152336555 single base substitution T C intron_variant PRAD-CA 6 152345077 152345077 single base substitution G A intron_variant PRAD-CA 6 152391728 152391728 single base substitution C G intron_variant PRAD-CA 6 152414420 152414420 single base substitution C A intron_variant PRAD-CA 6 152432565 152432565 single base substitution C T intron_variant PRAD-CA 6 152438979 152438979 single base substitution A G intron_variant PRAD-CA 6 152452237 152452237 single base substitution C A downstream_gene_variant PRAD-UK 6 151974592 151974592 single base substitution C T upstream_gene_variant PRAD-UK 6 151979614 151979614 single base substitution A T intron_variant PRAD-UK 6 151983279 151983279 single base substitution G A intron_variant PRAD-UK 6 151987983 151987983 single base substitution C T intron_variant PRAD-UK 6 151994557 151994557 single base substitution G T intron_variant PRAD-UK 6 151998803 151998803 single base substitution C T intron_variant PRAD-UK 6 152000484 152000484 single base substitution G A intron_variant PRAD-UK 6 152013052 152013052 single base substitution A C intron_variant PRAD-UK 6 152015660 152015660 single base substitution C T intron_variant PRAD-UK 6 152019728 152019728 single base substitution C T intron_variant PRAD-UK 6 152021942 152021942 single base substitution C A intron_variant PRAD-UK 6 152028873 152028873 single base substitution A G intron_variant PRAD-UK 6 152030601 152030601 single base substitution C A intron_variant PRAD-UK 6 152032645 152032645 single base substitution C T intron_variant PRAD-UK 6 152033685 152033685 single base substitution C A intron_variant PRAD-UK 6 152035733 152035733 single base substitution C G intron_variant PRAD-UK 6 152035943 152035943 single base substitution C G intron_variant PRAD-UK 6 152041411 152041411 single base substitution G T intron_variant PRAD-UK 6 152045326 152045326 single base substitution A C intron_variant PRAD-UK 6 152049773 152049773 single base substitution T G intron_variant PRAD-UK 6 152051061 152051061 deletion of <=200bp G - intron_variant PRAD-UK 6 152053043 152053043 single base substitution A C intron_variant PRAD-UK 6 152055071 152055071 insertion of <=200bp - T intron_variant PRAD-UK 6 152055075 152055075 insertion of <=200bp - T intron_variant PRAD-UK 6 152059655 152059655 single base substitution A G intron_variant PRAD-UK 6 152060476 152060476 single base substitution T A intron_variant PRAD-UK 6 152062524 152062524 single base substitution C T intron_variant PRAD-UK 6 152064421 152064421 single base substitution G T intron_variant PRAD-UK 6 152070927 152070927 single base substitution C T intron_variant PRAD-UK 6 152078116 152078116 single base substitution C A intron_variant PRAD-UK 6 152079079 152079079 single base substitution T A intron_variant PRAD-UK 6 152081853 152081853 single base substitution C A intron_variant PRAD-UK 6 152084386 152084386 single base substitution A G intron_variant PRAD-UK 6 152096795 152096795 single base substitution G A intron_variant PRAD-UK 6 152097419 152097419 single base substitution A T intron_variant PRAD-UK 6 152098426 152098426 single base substitution G A intron_variant PRAD-UK 6 152112956 152112956 single base substitution C A intron_variant PRAD-UK 6 152112976 152112976 insertion of <=200bp - A intron_variant PRAD-UK 6 152112984 152112984 insertion of <=200bp - A intron_variant PRAD-UK 6 152122962 152122962 single base substitution C T intron_variant PRAD-UK 6 152122962 152122962 single base substitution C T upstream_gene_variant PRAD-UK 6 152126952 152126952 single base substitution C A 5_prime_UTR_variant PRAD-UK 6 152126952 152126952 single base substitution C A intron_variant PRAD-UK 6 152126952 152126952 single base substitution C A upstream_gene_variant PRAD-UK 6 152128412 152128412 single base substitution G A 5_prime_UTR_variant PRAD-UK 6 152128412 152128412 single base substitution G A intron_variant PRAD-UK 6 152128412 152128412 single base substitution G A upstream_gene_variant PRAD-UK 6 152136872 152136872 single base substitution G A downstream_gene_variant PRAD-UK 6 152136872 152136872 single base substitution G A intron_variant PRAD-UK 6 152137561 152137561 single base substitution T G intron_variant PRAD-UK 6 152157015 152157015 deletion of <=200bp C - intron_variant PRAD-UK 6 152158041 152158041 deletion of <=200bp A - intron_variant PRAD-UK 6 152158041 152158041 single base substitution A T intron_variant PRAD-UK 6 152158414 152158414 insertion of <=200bp - T intron_variant PRAD-UK 6 152159921 152159921 single base substitution G A intron_variant PRAD-UK 6 152163575 152163575 single base substitution C A intron_variant PRAD-UK 6 152163723 152163723 single base substitution T C intron_variant PRAD-UK 6 152183788 152183788 single base substitution C A intron_variant PRAD-UK 6 152184674 152184674 single base substitution T G intron_variant PRAD-UK 6 152185467 152185467 insertion of <=200bp - A intron_variant PRAD-UK 6 152191611 152191611 single base substitution A G intron_variant PRAD-UK 6 152198608 152198608 single base substitution T A intron_variant PRAD-UK 6 152198608 152198608 single base substitution T A upstream_gene_variant PRAD-UK 6 152199582 152199582 single base substitution G T intron_variant PRAD-UK 6 152199582 152199582 single base substitution G T upstream_gene_variant PRAD-UK 6 152210126 152210126 single base substitution C G intron_variant PRAD-UK 6 152213688 152213688 single base substitution A G intron_variant PRAD-UK 6 152215058 152215058 single base substitution T C intron_variant PRAD-UK 6 152215814 152215814 single base substitution C A intron_variant PRAD-UK 6 152217889 152217889 single base substitution T C intron_variant PRAD-UK 6 152220251 152220251 single base substitution G T intron_variant PRAD-UK 6 152227193 152227193 single base substitution G A intron_variant PRAD-UK 6 152233510 152233510 single base substitution G T intron_variant PRAD-UK 6 152245441 152245441 single base substitution G C intron_variant PRAD-UK 6 152255162 152255162 single base substitution C A intron_variant PRAD-UK 6 152258521 152258521 single base substitution C A intron_variant PRAD-UK 6 152258533 152258533 single base substitution G C intron_variant PRAD-UK 6 152260014 152260014 single base substitution C A intron_variant PRAD-UK 6 152268717 152268717 single base substitution G T intron_variant PRAD-UK 6 152272360 152272360 single base substitution G A intron_variant PRAD-UK 6 152277446 152277446 single base substitution C A intron_variant PRAD-UK 6 152286142 152286142 single base substitution A T intron_variant PRAD-UK 6 152287977 152287977 single base substitution C A intron_variant PRAD-UK 6 152294849 152294849 single base substitution G A intron_variant PRAD-UK 6 152300812 152300812 single base substitution T C intron_variant PRAD-UK 6 152300845 152300845 single base substitution T A intron_variant PRAD-UK 6 152302065 152302065 single base substitution C T intron_variant PRAD-UK 6 152303125 152303125 single base substitution G C intron_variant PRAD-UK 6 152303783 152303783 single base substitution C T intron_variant PRAD-UK 6 152308941 152308941 single base substitution T A downstream_gene_variant PRAD-UK 6 152308941 152308941 single base substitution T A intron_variant PRAD-UK 6 152310929 152310929 single base substitution A G intron_variant PRAD-UK 6 152332451 152332451 single base substitution G A intron_variant PRAD-UK 6 152353210 152353210 single base substitution T A intron_variant PRAD-UK 6 152365293 152365293 single base substitution C T intron_variant PRAD-UK 6 152370089 152370089 single base substitution T C intron_variant PRAD-UK 6 152379992 152379992 single base substitution T C intron_variant PRAD-UK 6 152389567 152389567 single base substitution G T intron_variant PRAD-UK 6 152392957 152392957 deletion of <=200bp T - intron_variant PRAD-UK 6 152394996 152394996 single base substitution G A intron_variant PRAD-UK 6 152397402 152397402 single base substitution G T intron_variant PRAD-UK 6 152397564 152397564 single base substitution C A intron_variant PRAD-UK 6 152412587 152412587 deletion of <=200bp G - intron_variant PRAD-UK 6 152413427 152413427 single base substitution C T intron_variant PRAD-UK 6 152415639 152415639 single base substitution C T intron_variant PRAD-UK 6 152415639 152415639 single base substitution C T synonymous_variant L236L 706C>T PRAD-UK 6 152415639 152415639 single base substitution C T synonymous_variant L385L 1153C>T PRAD-UK 6 152415639 152415639 single base substitution C T synonymous_variant L497L 1489C>T PRAD-UK 6 152425599 152425599 single base substitution C A downstream_gene_variant PRAD-UK 6 152425599 152425599 single base substitution C A intron_variant PRAD-UK 6 152430942 152430942 single base substitution C G intron_variant PRAD-UK 6 152439908 152439908 single base substitution A C intron_variant PRAD-UK 6 152444994 152444994 single base substitution G A intron_variant PRAD-US 6 152265313 152265313 single base substitution C T exon_variant PRAD-US 6 152265313 152265313 single base substitution C T intron_variant PRAD-US 6 152265313 152265313 single base substitution C T stop_gained R256* 766C>T PRAD-US 6 152265313 152265313 single base substitution C T stop_gained R83* 247C>T READ-US 6 152129076 152129076 single base substitution C G downstream_gene_variant READ-US 6 152129076 152129076 single base substitution C G missense_variant S10C 29C>G READ-US 6 152129076 152129076 single base substitution C G upstream_gene_variant READ-US 6 152163731 152163731 single base substitution G T intron_variant READ-US 6 152163731 152163731 single base substitution G T splice_acceptor_variant READ-US 6 152163847 152163847 single base substitution G A intron_variant READ-US 6 152163847 152163847 single base substitution G A missense_variant D17N 49G>A READ-US 6 152163847 152163847 single base substitution G A missense_variant D190N 568G>A READ-US 6 152201796 152201796 single base substitution A G intron_variant READ-US 6 152201796 152201796 single base substitution A G missense_variant N217S 650A>G READ-US 6 152201796 152201796 single base substitution A G missense_variant N2S 5A>G READ-US 6 152201796 152201796 single base substitution A G missense_variant N44S 131A>G READ-US 6 152201885 152201885 single base substitution G A intron_variant READ-US 6 152201885 152201885 single base substitution G A missense_variant E247K 739G>A READ-US 6 152201885 152201885 single base substitution G A missense_variant E32K 94G>A READ-US 6 152201885 152201885 single base substitution G A missense_variant E74K 220G>A READ-US 6 152443655 152443655 single base substitution T G intron_variant READ-US 6 152454537 152454537 single base substitution T C downstream_gene_variant RECA-EU 6 151981753 151981753 single base substitution A G intron_variant RECA-EU 6 151982134 151982134 single base substitution C T intron_variant RECA-EU 6 151983834 151983834 single base substitution G A intron_variant RECA-EU 6 151984300 151984300 single base substitution A G intron_variant RECA-EU 6 151991607 151991607 single base substitution G T intron_variant RECA-EU 6 151995073 151995073 single base substitution A G intron_variant RECA-EU 6 151995719 151995719 single base substitution G T intron_variant RECA-EU 6 151996460 151996460 single base substitution C A intron_variant RECA-EU 6 151998728 151998728 single base substitution A T intron_variant RECA-EU 6 152018023 152018023 single base substitution T A intron_variant RECA-EU 6 152026810 152026810 single base substitution G A intron_variant RECA-EU 6 152045438 152045438 single base substitution G A intron_variant RECA-EU 6 152051227 152051227 single base substitution G A intron_variant RECA-EU 6 152057363 152057363 single base substitution G T intron_variant RECA-EU 6 152057513 152057513 single base substitution T C intron_variant RECA-EU 6 152062255 152062255 single base substitution A T intron_variant RECA-EU 6 152079011 152079011 single base substitution A T intron_variant RECA-EU 6 152082731 152082731 single base substitution A T intron_variant RECA-EU 6 152083825 152083825 single base substitution G A intron_variant RECA-EU 6 152083826 152083826 single base substitution C T intron_variant RECA-EU 6 152093542 152093542 single base substitution A T intron_variant RECA-EU 6 152093735 152093735 single base substitution T A intron_variant RECA-EU 6 152094422 152094422 single base substitution A G intron_variant RECA-EU 6 152102616 152102616 single base substitution C T intron_variant RECA-EU 6 152102617 152102617 single base substitution T A intron_variant RECA-EU 6 152104172 152104172 single base substitution C T intron_variant RECA-EU 6 152105687 152105687 single base substitution A G intron_variant RECA-EU 6 152112956 152112956 single base substitution C A intron_variant RECA-EU 6 152123747 152123747 single base substitution T G intron_variant RECA-EU 6 152123747 152123747 single base substitution T G upstream_gene_variant RECA-EU 6 152140554 152140554 single base substitution G T intron_variant RECA-EU 6 152144853 152144853 single base substitution G A intron_variant RECA-EU 6 152147063 152147063 single base substitution A G intron_variant RECA-EU 6 152159635 152159635 single base substitution G T intron_variant RECA-EU 6 152159816 152159816 single base substitution T G intron_variant RECA-EU 6 152171533 152171533 single base substitution A G intron_variant RECA-EU 6 152174386 152174386 single base substitution A T intron_variant RECA-EU 6 152178008 152178008 single base substitution A T intron_variant RECA-EU 6 152185846 152185846 single base substitution A G intron_variant RECA-EU 6 152193630 152193630 single base substitution T C intron_variant RECA-EU 6 152196556 152196556 single base substitution A T intron_variant RECA-EU 6 152205549 152205549 single base substitution C G intron_variant RECA-EU 6 152209360 152209360 single base substitution G T intron_variant RECA-EU 6 152230296 152230296 single base substitution G A intron_variant RECA-EU 6 152231895 152231895 single base substitution A T intron_variant RECA-EU 6 152243622 152243622 single base substitution T A intron_variant RECA-EU 6 152244861 152244861 single base substitution T G intron_variant RECA-EU 6 152264604 152264604 single base substitution A T intron_variant RECA-EU 6 152264604 152264604 single base substitution A T upstream_gene_variant RECA-EU 6 152266593 152266593 single base substitution G T intron_variant RECA-EU 6 152272242 152272242 single base substitution C T intron_variant RECA-EU 6 152280441 152280441 single base substitution G T intron_variant RECA-EU 6 152291932 152291932 single base substitution A G intron_variant RECA-EU 6 152294754 152294754 single base substitution T C intron_variant RECA-EU 6 152310057 152310057 single base substitution T A downstream_gene_variant RECA-EU 6 152310057 152310057 single base substitution T A intron_variant RECA-EU 6 152313505 152313505 single base substitution C T intron_variant RECA-EU 6 152317514 152317514 single base substitution C A intron_variant RECA-EU 6 152318418 152318418 single base substitution A G intron_variant RECA-EU 6 152348482 152348482 single base substitution C A intron_variant RECA-EU 6 152351345 152351345 single base substitution G A intron_variant RECA-EU 6 152352503 152352503 single base substitution T A intron_variant RECA-EU 6 152378051 152378051 single base substitution C A intron_variant RECA-EU 6 152384404 152384404 single base substitution A T downstream_gene_variant RECA-EU 6 152384404 152384404 single base substitution A T intron_variant RECA-EU 6 152384487 152384487 single base substitution C A downstream_gene_variant RECA-EU 6 152384487 152384487 single base substitution C A intron_variant RECA-EU 6 152388917 152388917 single base substitution G A intron_variant RECA-EU 6 152403393 152403393 single base substitution T A intron_variant RECA-EU 6 152403394 152403394 single base substitution C A intron_variant RECA-EU 6 152404793 152404793 single base substitution G T intron_variant RECA-EU 6 152405079 152405079 single base substitution A T intron_variant RECA-EU 6 152436356 152436356 single base substitution G T intron_variant RECA-EU 6 152446249 152446249 single base substitution G T intron_variant RECA-EU 6 152447957 152447957 single base substitution G C 3_prime_UTR_variant SKCA-BR 6 151974122 151974122 single base substitution C T upstream_gene_variant SKCA-BR 6 151975184 151975184 single base substitution C T upstream_gene_variant SKCA-BR 6 151975670 151975670 single base substitution G A upstream_gene_variant SKCA-BR 6 151978985 151978985 single base substitution C T intron_variant SKCA-BR 6 151980684 151980684 single base substitution G A intron_variant SKCA-BR 6 151981370 151981370 single base substitution G A intron_variant SKCA-BR 6 151984129 151984129 single base substitution C T intron_variant SKCA-BR 6 151988418 151988418 single base substitution C T intron_variant SKCA-BR 6 151988486 151988486 single base substitution G A intron_variant SKCA-BR 6 151990314 151990328 deletion of <=200bp AGAGAGAGAGATGGG - intron_variant SKCA-BR 6 151991720 151991721 deletion of <=200bp TA - intron_variant SKCA-BR 6 151993021 151993021 single base substitution G A intron_variant SKCA-BR 6 151994821 151994821 single base substitution C T intron_variant SKCA-BR 6 151995308 151995308 single base substitution C T intron_variant SKCA-BR 6 151995564 151995564 single base substitution C T intron_variant SKCA-BR 6 151996136 151996136 single base substitution G A intron_variant SKCA-BR 6 151996138 151996138 single base substitution T A intron_variant SKCA-BR 6 151999356 151999356 single base substitution C T intron_variant SKCA-BR 6 152000575 152000575 single base substitution C T intron_variant SKCA-BR 6 152000576 152000576 single base substitution C T intron_variant SKCA-BR 6 152003136 152003136 single base substitution A G intron_variant SKCA-BR 6 152003453 152003453 single base substitution C T intron_variant SKCA-BR 6 152004999 152004999 single base substitution A T intron_variant SKCA-BR 6 152005431 152005431 single base substitution G A intron_variant SKCA-BR 6 152005807 152005807 single base substitution T C intron_variant SKCA-BR 6 152007199 152007199 insertion of <=200bp - AT intron_variant SKCA-BR 6 152007199 152007199 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 6 152007824 152007824 insertion of <=200bp - AAACC intron_variant SKCA-BR 6 152007824 152007824 insertion of <=200bp - AAACC upstream_gene_variant SKCA-BR 6 152009638 152009638 single base substitution A G intron_variant SKCA-BR 6 152009638 152009638 single base substitution A G upstream_gene_variant SKCA-BR 6 152022346 152022346 insertion of <=200bp - GT intron_variant SKCA-BR 6 152022685 152022688 deletion of <=200bp AAAG - intron_variant SKCA-BR 6 152027688 152027688 single base substitution T G intron_variant SKCA-BR 6 152028867 152028867 single base substitution C T intron_variant SKCA-BR 6 152030206 152030206 single base substitution C T intron_variant SKCA-BR 6 152030207 152030207 single base substitution C T intron_variant SKCA-BR 6 152031017 152031017 single base substitution C T intron_variant SKCA-BR 6 152037812 152037812 single base substitution T C intron_variant SKCA-BR 6 152040446 152040446 single base substitution C T intron_variant SKCA-BR 6 152044699 152044699 single base substitution C T intron_variant SKCA-BR 6 152046909 152046909 single base substitution C T intron_variant SKCA-BR 6 152047602 152047602 single base substitution G A intron_variant SKCA-BR 6 152057402 152057402 insertion of <=200bp - ATAAAC intron_variant SKCA-BR 6 152057513 152057513 single base substitution T C intron_variant SKCA-BR 6 152058954 152058954 single base substitution C T intron_variant SKCA-BR 6 152062613 152062613 single base substitution T A intron_variant SKCA-BR 6 152063056 152063056 single base substitution C T intron_variant SKCA-BR 6 152063088 152063088 single base substitution C T intron_variant SKCA-BR 6 152067324 152067324 single base substitution C T intron_variant SKCA-BR 6 152068419 152068419 single base substitution T G intron_variant SKCA-BR 6 152068943 152068943 single base substitution C T intron_variant SKCA-BR 6 152069101 152069101 single base substitution C T intron_variant SKCA-BR 6 152069992 152069992 single base substitution A G intron_variant SKCA-BR 6 152070327 152070329 deletion of <=200bp CAA - intron_variant SKCA-BR 6 152071470 152071470 single base substitution C T intron_variant SKCA-BR 6 152074933 152074933 single base substitution G A intron_variant SKCA-BR 6 152083610 152083610 single base substitution C T intron_variant SKCA-BR 6 152084360 152084360 single base substitution A T intron_variant SKCA-BR 6 152084386 152084386 single base substitution A C intron_variant SKCA-BR 6 152084458 152084459 deletion of <=200bp TA - intron_variant SKCA-BR 6 152086685 152086685 single base substitution C T intron_variant SKCA-BR 6 152088374 152088374 single base substitution T G intron_variant SKCA-BR 6 152096859 152096859 single base substitution T G intron_variant SKCA-BR 6 152097848 152097848 single base substitution C T intron_variant SKCA-BR 6 152106510 152106510 single base substitution C T intron_variant SKCA-BR 6 152107810 152107810 insertion of <=200bp - CT intron_variant SKCA-BR 6 152108811 152108811 single base substitution G A intron_variant SKCA-BR 6 152109938 152109938 single base substitution G A intron_variant SKCA-BR 6 152111568 152111568 single base substitution G A intron_variant SKCA-BR 6 152112103 152112103 single base substitution C T intron_variant SKCA-BR 6 152116065 152116065 single base substitution G A intron_variant SKCA-BR 6 152117320 152117320 single base substitution C A intron_variant SKCA-BR 6 152121562 152121562 single base substitution C T intron_variant SKCA-BR 6 152121562 152121562 single base substitution C T upstream_gene_variant SKCA-BR 6 152122014 152122014 single base substitution C T intron_variant SKCA-BR 6 152122014 152122014 single base substitution C T upstream_gene_variant SKCA-BR 6 152122320 152122320 single base substitution G A intron_variant SKCA-BR 6 152122320 152122320 single base substitution G A upstream_gene_variant SKCA-BR 6 152122359 152122359 single base substitution G A intron_variant SKCA-BR 6 152122359 152122359 single base substitution G A upstream_gene_variant SKCA-BR 6 152129077 152129077 single base substitution T C downstream_gene_variant SKCA-BR 6 152129077 152129077 single base substitution T C synonymous_variant S10S 30T>C SKCA-BR 6 152129077 152129077 single base substitution T C upstream_gene_variant SKCA-BR 6 152129382 152129382 single base substitution A C downstream_gene_variant SKCA-BR 6 152129382 152129382 single base substitution A C exon_variant SKCA-BR 6 152129382 152129382 single base substitution A C missense_variant H112P 335A>C SKCA-BR 6 152129382 152129382 single base substitution A C upstream_gene_variant SKCA-BR 6 152134103 152134104 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 6 152134103 152134104 deletion of <=200bp CA - intron_variant SKCA-BR 6 152136760 152136760 single base substitution G A downstream_gene_variant SKCA-BR 6 152136760 152136760 single base substitution G A intron_variant SKCA-BR 6 152138113 152138113 single base substitution C T intron_variant SKCA-BR 6 152140616 152140616 single base substitution C T intron_variant SKCA-BR 6 152143117 152143117 single base substitution T G intron_variant SKCA-BR 6 152143753 152143753 single base substitution C T intron_variant SKCA-BR 6 152146167 152146167 single base substitution T G intron_variant SKCA-BR 6 152149825 152149825 single base substitution C G intron_variant SKCA-BR 6 152155832 152155832 single base substitution A G intron_variant SKCA-BR 6 152156197 152156197 single base substitution G A intron_variant SKCA-BR 6 152156410 152156410 single base substitution G A intron_variant SKCA-BR 6 152156728 152156728 single base substitution G A intron_variant SKCA-BR 6 152157709 152157721 deletion of <=200bp ATCAAGGACCTAC - intron_variant SKCA-BR 6 152158940 152158940 single base substitution G A intron_variant SKCA-BR 6 152160390 152160390 single base substitution T G intron_variant SKCA-BR 6 152166118 152166118 single base substitution G A intron_variant SKCA-BR 6 152166333 152166333 single base substitution G A intron_variant SKCA-BR 6 152167436 152167436 single base substitution C T intron_variant SKCA-BR 6 152168528 152168528 single base substitution C T intron_variant SKCA-BR 6 152169163 152169163 single base substitution T C intron_variant SKCA-BR 6 152169520 152169520 single base substitution G A intron_variant SKCA-BR 6 152169521 152169521 single base substitution A C intron_variant SKCA-BR 6 152169613 152169614 deletion of <=200bp TA - intron_variant SKCA-BR 6 152170313 152170313 single base substitution C T intron_variant SKCA-BR 6 152171113 152171119 deletion of <=200bp TTATATA - intron_variant SKCA-BR 6 152171193 152171193 single base substitution A T intron_variant SKCA-BR 6 152171231 152171233 deletion of <=200bp TTA - intron_variant SKCA-BR 6 152171238 152171238 single base substitution T C intron_variant SKCA-BR 6 152171247 152171247 single base substitution A T intron_variant SKCA-BR 6 152172417 152172417 single base substitution C A intron_variant SKCA-BR 6 152173774 152173774 insertion of <=200bp - GTT intron_variant SKCA-BR 6 152175346 152175346 single base substitution G A intron_variant SKCA-BR 6 152175792 152175792 single base substitution A T intron_variant SKCA-BR 6 152176036 152176036 single base substitution C T intron_variant SKCA-BR 6 152176443 152176443 single base substitution T A intron_variant SKCA-BR 6 152176759 152176759 single base substitution C T intron_variant SKCA-BR 6 152177007 152177007 single base substitution G T intron_variant SKCA-BR 6 152180683 152180683 single base substitution A C intron_variant SKCA-BR 6 152181079 152181079 single base substitution G A intron_variant SKCA-BR 6 152181241 152181241 single base substitution T G intron_variant SKCA-BR 6 152182925 152182925 single base substitution C T intron_variant SKCA-BR 6 152183277 152183277 single base substitution C T intron_variant SKCA-BR 6 152185637 152185637 single base substitution G A intron_variant SKCA-BR 6 152185965 152185965 single base substitution T C intron_variant SKCA-BR 6 152186085 152186085 single base substitution A G intron_variant SKCA-BR 6 152186773 152186773 single base substitution C A intron_variant SKCA-BR 6 152187845 152187845 single base substitution C T intron_variant SKCA-BR 6 152188147 152188147 single base substitution G A intron_variant SKCA-BR 6 152189206 152189226 deletion of <=200bp AGTACCCAATGATAGTTTTTT - intron_variant SKCA-BR 6 152189590 152189590 single base substitution C T intron_variant SKCA-BR 6 152195514 152195514 single base substitution C T intron_variant SKCA-BR 6 152197641 152197641 single base substitution G A intron_variant SKCA-BR 6 152197641 152197641 single base substitution G A upstream_gene_variant SKCA-BR 6 152197723 152197723 single base substitution G A intron_variant SKCA-BR 6 152197723 152197723 single base substitution G A upstream_gene_variant SKCA-BR 6 152197890 152197890 single base substitution C T intron_variant SKCA-BR 6 152197890 152197890 single base substitution C T upstream_gene_variant SKCA-BR 6 152197921 152197921 single base substitution C T intron_variant SKCA-BR 6 152197921 152197921 single base substitution C T upstream_gene_variant SKCA-BR 6 152199118 152199118 insertion of <=200bp - AT intron_variant SKCA-BR 6 152199118 152199118 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 6 152201573 152201573 single base substitution C T intron_variant SKCA-BR 6 152201573 152201573 single base substitution C T upstream_gene_variant SKCA-BR 6 152202411 152202411 single base substitution A C intron_variant SKCA-BR 6 152203170 152203170 single base substitution G A intron_variant SKCA-BR 6 152205935 152205935 single base substitution C T intron_variant SKCA-BR 6 152206405 152206405 single base substitution C T intron_variant SKCA-BR 6 152210730 152210731 deletion of <=200bp TA - intron_variant SKCA-BR 6 152210732 152210732 single base substitution A T intron_variant SKCA-BR 6 152211027 152211027 single base substitution T A intron_variant SKCA-BR 6 152214072 152214072 single base substitution C T intron_variant SKCA-BR 6 152215204 152215204 single base substitution G A intron_variant SKCA-BR 6 152217647 152217647 single base substitution C T intron_variant SKCA-BR 6 152218920 152218920 single base substitution G A intron_variant SKCA-BR 6 152220092 152220092 single base substitution C T intron_variant SKCA-BR 6 152222421 152222421 single base substitution C T intron_variant SKCA-BR 6 152224825 152224825 single base substitution A C intron_variant SKCA-BR 6 152225182 152225182 single base substitution C T intron_variant SKCA-BR 6 152227908 152227908 single base substitution C T intron_variant SKCA-BR 6 152229543 152229543 single base substitution C T intron_variant SKCA-BR 6 152230333 152230333 single base substitution C T intron_variant SKCA-BR 6 152230357 152230357 single base substitution G T intron_variant SKCA-BR 6 152230386 152230386 single base substitution C T intron_variant SKCA-BR 6 152232249 152232249 single base substitution C T intron_variant SKCA-BR 6 152233721 152233721 single base substitution C T intron_variant SKCA-BR 6 152235186 152235186 single base substitution C T intron_variant SKCA-BR 6 152239319 152239319 single base substitution C T intron_variant SKCA-BR 6 152240487 152240487 single base substitution C T intron_variant SKCA-BR 6 152241436 152241437 deletion of <=200bp CT - intron_variant SKCA-BR 6 152246259 152246259 insertion of <=200bp - TTTTTTTTGTTTG intron_variant SKCA-BR 6 152247492 152247492 single base substitution C T intron_variant SKCA-BR 6 152249181 152249181 single base substitution T A intron_variant SKCA-BR 6 152250134 152250134 single base substitution C T intron_variant SKCA-BR 6 152251905 152251905 single base substitution C T intron_variant SKCA-BR 6 152252460 152252460 single base substitution C T intron_variant SKCA-BR 6 152252966 152252966 single base substitution T C intron_variant SKCA-BR 6 152253094 152253094 single base substitution C T intron_variant SKCA-BR 6 152255302 152255302 single base substitution C T intron_variant SKCA-BR 6 152257593 152257593 single base substitution C T intron_variant SKCA-BR 6 152258799 152258799 single base substitution C T intron_variant SKCA-BR 6 152260971 152260971 single base substitution C T intron_variant SKCA-BR 6 152260971 152260971 single base substitution C T upstream_gene_variant SKCA-BR 6 152268998 152268998 single base substitution A C intron_variant SKCA-BR 6 152270455 152270455 single base substitution G T intron_variant SKCA-BR 6 152270491 152270491 single base substitution C T intron_variant SKCA-BR 6 152271093 152271093 single base substitution C T intron_variant SKCA-BR 6 152273582 152273582 single base substitution C T intron_variant SKCA-BR 6 152275135 152275135 single base substitution A C intron_variant SKCA-BR 6 152276923 152276923 single base substitution G A intron_variant SKCA-BR 6 152277361 152277361 single base substitution C T intron_variant SKCA-BR 6 152277956 152277956 single base substitution A T intron_variant SKCA-BR 6 152277974 152277984 deletion of <=200bp AATAAATATAT - intron_variant SKCA-BR 6 152277984 152277984 single base substitution T A intron_variant SKCA-BR 6 152278016 152278016 single base substitution A T intron_variant SKCA-BR 6 152279438 152279438 single base substitution G A intron_variant SKCA-BR 6 152280965 152280965 single base substitution C T intron_variant SKCA-BR 6 152284458 152284458 single base substitution G A intron_variant SKCA-BR 6 152287140 152287141 deletion of <=200bp GT - intron_variant SKCA-BR 6 152287142 152287143 deletion of <=200bp TG - intron_variant SKCA-BR 6 152289844 152289844 single base substitution T C intron_variant SKCA-BR 6 152290125 152290125 single base substitution C T intron_variant SKCA-BR 6 152291966 152291966 single base substitution C T intron_variant SKCA-BR 6 152291967 152291967 single base substitution C T intron_variant SKCA-BR 6 152292053 152292053 single base substitution C T intron_variant SKCA-BR 6 152292596 152292596 single base substitution G A intron_variant SKCA-BR 6 152294476 152294476 insertion of <=200bp - CAA intron_variant SKCA-BR 6 152295308 152295308 single base substitution C T intron_variant SKCA-BR 6 152296704 152296704 single base substitution A G intron_variant SKCA-BR 6 152297571 152297571 insertion of <=200bp - AT intron_variant SKCA-BR 6 152298678 152298678 single base substitution C T intron_variant SKCA-BR 6 152300397 152300397 single base substitution T C intron_variant SKCA-BR 6 152302751 152302751 single base substitution G A intron_variant SKCA-BR 6 152303621 152303621 insertion of <=200bp - AT intron_variant SKCA-BR 6 152309715 152309715 single base substitution G A downstream_gene_variant SKCA-BR 6 152309715 152309715 single base substitution G A intron_variant SKCA-BR 6 152311162 152311162 single base substitution C T intron_variant SKCA-BR 6 152313956 152313956 single base substitution G A intron_variant SKCA-BR 6 152323847 152323847 single base substitution C T intron_variant SKCA-BR 6 152324475 152324475 insertion of <=200bp - ATGTGTG intron_variant SKCA-BR 6 152329510 152329510 single base substitution G A intron_variant SKCA-BR 6 152329511 152329511 single base substitution G A intron_variant SKCA-BR 6 152331639 152331639 single base substitution G A intron_variant SKCA-BR 6 152333383 152333383 single base substitution C G intron_variant SKCA-BR 6 152335810 152335810 single base substitution C T intron_variant SKCA-BR 6 152337742 152337742 single base substitution G T intron_variant SKCA-BR 6 152345614 152345614 single base substitution C T intron_variant SKCA-BR 6 152345615 152345615 single base substitution C T intron_variant SKCA-BR 6 152348143 152348143 single base substitution C T intron_variant SKCA-BR 6 152349782 152349782 single base substitution A G intron_variant SKCA-BR 6 152350300 152350300 single base substitution G A intron_variant SKCA-BR 6 152350890 152350890 single base substitution G A intron_variant SKCA-BR 6 152351292 152351292 single base substitution G A intron_variant SKCA-BR 6 152351795 152351795 single base substitution G A intron_variant SKCA-BR 6 152354205 152354205 single base substitution G A intron_variant SKCA-BR 6 152358624 152358624 single base substitution G C intron_variant SKCA-BR 6 152359219 152359219 single base substitution C T intron_variant SKCA-BR 6 152363411 152363411 single base substitution G A intron_variant SKCA-BR 6 152374353 152374353 single base substitution C T intron_variant SKCA-BR 6 152375497 152375497 single base substitution C T intron_variant SKCA-BR 6 152375523 152375523 single base substitution C T intron_variant SKCA-BR 6 152380096 152380096 single base substitution G A intron_variant SKCA-BR 6 152384555 152384555 single base substitution C T downstream_gene_variant SKCA-BR 6 152384555 152384555 single base substitution C T intron_variant SKCA-BR 6 152388333 152388333 single base substitution G A intron_variant SKCA-BR 6 152390335 152390347 deletion of <=200bp TAGGCTTTTTAAG - intron_variant SKCA-BR 6 152390351 152390351 single base substitution A C intron_variant SKCA-BR 6 152392429 152392429 single base substitution G A intron_variant SKCA-BR 6 152393896 152393896 single base substitution A G intron_variant SKCA-BR 6 152396501 152396501 single base substitution C T intron_variant SKCA-BR 6 152398235 152398235 single base substitution G A intron_variant SKCA-BR 6 152401666 152401666 single base substitution A C intron_variant SKCA-BR 6 152405532 152405532 single base substitution T G intron_variant SKCA-BR 6 152407236 152407236 single base substitution G A intron_variant SKCA-BR 6 152414930 152414930 single base substitution G A intron_variant SKCA-BR 6 152415639 152415639 single base substitution C T intron_variant SKCA-BR 6 152415639 152415639 single base substitution C T synonymous_variant L236L 706C>T SKCA-BR 6 152415639 152415639 single base substitution C T synonymous_variant L385L 1153C>T SKCA-BR 6 152415639 152415639 single base substitution C T synonymous_variant L497L 1489C>T SKCA-BR 6 152416905 152416905 single base substitution C T intron_variant SKCA-BR 6 152422169 152422170 deletion of <=200bp GT - 3_prime_UTR_variant SKCA-BR 6 152422169 152422170 deletion of <=200bp GT - downstream_gene_variant SKCA-BR 6 152422169 152422170 deletion of <=200bp GT - intron_variant SKCA-BR 6 152422678 152422678 single base substitution G A 3_prime_UTR_variant SKCA-BR 6 152422678 152422678 single base substitution G A downstream_gene_variant SKCA-BR 6 152422678 152422678 single base substitution G A intron_variant SKCA-BR 6 152423622 152423622 single base substitution C T 3_prime_UTR_variant SKCA-BR 6 152423622 152423622 single base substitution C T downstream_gene_variant SKCA-BR 6 152423622 152423622 single base substitution C T intron_variant SKCA-BR 6 152424268 152424268 single base substitution G A 3_prime_UTR_variant SKCA-BR 6 152424268 152424268 single base substitution G A downstream_gene_variant SKCA-BR 6 152424268 152424268 single base substitution G A intron_variant SKCA-BR 6 152425115 152425115 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 6 152425115 152425115 insertion of <=200bp - CT intron_variant SKCA-BR 6 152425344 152425344 single base substitution T G downstream_gene_variant SKCA-BR 6 152425344 152425344 single base substitution T G intron_variant SKCA-BR 6 152427098 152427098 single base substitution A T downstream_gene_variant SKCA-BR 6 152427098 152427098 single base substitution A T intron_variant SKCA-BR 6 152432974 152432974 single base substitution C T intron_variant SKCA-BR 6 152435381 152435381 single base substitution T C intron_variant SKCA-BR 6 152435843 152435843 single base substitution G A intron_variant SKCA-BR 6 152438906 152438906 single base substitution T G intron_variant SKCA-BR 6 152439677 152439677 single base substitution G A intron_variant SKCA-BR 6 152441056 152441056 single base substitution C T intron_variant SKCA-BR 6 152442496 152442496 single base substitution G A intron_variant SKCA-BR 6 152444535 152444535 single base substitution G A intron_variant SKCA-BR 6 152444536 152444536 single base substitution G A intron_variant SKCA-BR 6 152445591 152445591 single base substitution T G intron_variant SKCA-BR 6 152450746 152450746 insertion of <=200bp - GA 3_prime_UTR_variant SKCA-BR 6 152451646 152451646 single base substitution C T downstream_gene_variant SKCA-BR 6 152455659 152455659 single base substitution T C downstream_gene_variant SKCM-US 6 152201873 152201873 single base substitution C T intron_variant SKCM-US 6 152201873 152201873 single base substitution C T missense_variant R243C 727C>T SKCM-US 6 152201873 152201873 single base substitution C T missense_variant R28C 82C>T SKCM-US 6 152201873 152201873 single base substitution C T missense_variant R70C 208C>T SKCM-US 6 152201885 152201885 single base substitution G A intron_variant SKCM-US 6 152201885 152201885 single base substitution G A missense_variant E247K 739G>A SKCM-US 6 152201885 152201885 single base substitution G A missense_variant E32K 94G>A SKCM-US 6 152201885 152201885 single base substitution G A missense_variant E74K 220G>A SKCM-US 6 152382133 152382133 single base substitution G A missense_variant G154R 460G>A SKCM-US 6 152382133 152382133 single base substitution G A missense_variant G242R 724G>A SKCM-US 6 152382133 152382133 single base substitution G A missense_variant G303R 907G>A SKCM-US 6 152382133 152382133 single base substitution G A missense_variant G415R 1243G>A SKCM-US 6 152382133 152382133 single base substitution G A missense_variant G88R 262G>A SKCM-US 6 152382190 152382190 single base substitution C T missense_variant R107W 319C>T SKCM-US 6 152382190 152382190 single base substitution C T missense_variant R173W 517C>T SKCM-US 6 152382190 152382190 single base substitution C T missense_variant R261W 781C>T SKCM-US 6 152382190 152382190 single base substitution C T missense_variant R322W 964C>T SKCM-US 6 152382190 152382190 single base substitution C T missense_variant R434W 1300C>T SKCM-US 6 152415538 152415538 single base substitution C T intron_variant SKCM-US 6 152415538 152415538 single base substitution C T missense_variant S202F 605C>T SKCM-US 6 152415538 152415538 single base substitution C T missense_variant S351F 1052C>T SKCM-US 6 152415538 152415538 single base substitution C T missense_variant S463F 1388C>T SKCM-US 6 152420037 152420037 single base substitution C T intron_variant SKCM-US 6 152420037 152420037 single base substitution C T missense_variant S314L 941C>T SKCM-US 6 152420037 152420037 single base substitution C T missense_variant S463L 1388C>T SKCM-US 6 152420037 152420037 single base substitution C T missense_variant S575L 1724C>T SKCM-US 6 152443613 152443613 single base substitution G A intron_variant SKCM-US 6 152443755 152443755 single base substitution C T intron_variant SKCM-US 6 152443788 152443788 single base substitution G A intron_variant SKCM-US 6 152453312 152453312 single base substitution G A downstream_gene_variant STAD-US 6 152129084 152129084 single base substitution G A downstream_gene_variant STAD-US 6 152129084 152129084 single base substitution G A missense_variant A13T 37G>A STAD-US 6 152129084 152129084 single base substitution G A upstream_gene_variant STAD-US 6 152129139 152129139 single base substitution T C downstream_gene_variant STAD-US 6 152129139 152129139 single base substitution T C missense_variant L31P 92T>C STAD-US 6 152129139 152129139 single base substitution T C upstream_gene_variant STAD-US 6 152201865 152201865 single base substitution G A intron_variant STAD-US 6 152201865 152201865 single base substitution G A missense_variant C240Y 719G>A STAD-US 6 152201865 152201865 single base substitution G A missense_variant C25Y 74G>A STAD-US 6 152201865 152201865 single base substitution G A missense_variant C67Y 200G>A STAD-US 6 152201884 152201884 single base substitution C T intron_variant STAD-US 6 152201884 152201884 single base substitution C T synonymous_variant Y246Y 738C>T STAD-US 6 152201884 152201884 single base substitution C T synonymous_variant Y31Y 93C>T STAD-US 6 152201884 152201884 single base substitution C T synonymous_variant Y73Y 219C>T STAD-US 6 152265479 152265479 single base substitution C T exon_variant STAD-US 6 152265479 152265479 single base substitution C T intron_variant STAD-US 6 152265479 152265479 single base substitution C T missense_variant T138M 413C>T STAD-US 6 152265479 152265479 single base substitution C T missense_variant T311M 932C>T STAD-US 6 152265607 152265607 single base substitution C A exon_variant STAD-US 6 152265607 152265607 single base substitution C A intron_variant STAD-US 6 152265607 152265607 single base substitution C A missense_variant L181M 541C>A STAD-US 6 152265607 152265607 single base substitution C A missense_variant L354M 1060C>A STAD-US 6 152332821 152332821 single base substitution T C intron_variant STAD-US 6 152332821 152332821 single base substitution T C missense_variant V203A 608T>C STAD-US 6 152332821 152332821 single base substitution T C missense_variant V264A 791T>C STAD-US 6 152332821 152332821 single base substitution T C missense_variant V376A 1127T>C STAD-US 6 152332821 152332821 single base substitution T C missense_variant V49A 146T>C STAD-US 6 152415579 152415579 single base substitution C T intron_variant STAD-US 6 152415579 152415579 single base substitution C T stop_gained R216* 646C>T STAD-US 6 152415579 152415579 single base substitution C T stop_gained R365* 1093C>T STAD-US 6 152415579 152415579 single base substitution C T stop_gained R477* 1429C>T STAD-US 6 152419910 152419910 single base substitution G A intron_variant STAD-US 6 152419910 152419910 single base substitution G A missense_variant V272M 814G>A STAD-US 6 152419910 152419910 single base substitution G A missense_variant V421M 1261G>A STAD-US 6 152419910 152419910 single base substitution G A missense_variant V533M 1597G>A STAD-US 6 152420094 152420094 single base substitution C T intron_variant STAD-US 6 152420094 152420094 single base substitution C T missense_variant T333M 998C>T STAD-US 6 152420094 152420094 single base substitution C T missense_variant T482M 1445C>T STAD-US 6 152420094 152420094 single base substitution C T missense_variant T594M 1781C>T STAD-US 6 152443751 152443751 single base substitution G A intron_variant STAD-US 6 152453304 152453304 single base substitution A G downstream_gene_variant STAD-US 6 152453334 152453334 single base substitution A T downstream_gene_variant THCA-SA 6 152129077 152129077 single base substitution T C downstream_gene_variant THCA-SA 6 152129077 152129077 single base substitution T C synonymous_variant S10S 30T>C THCA-SA 6 152129077 152129077 single base substitution T C upstream_gene_variant THCA-SA 6 152420685 152420685 single base substitution C G 3_prime_UTR_variant THCA-SA 6 152420685 152420685 single base substitution C G downstream_gene_variant THCA-SA 6 152420685 152420685 single base substitution C G intron_variant THCA-SA 6 152454445 152454445 insertion of <=200bp - T downstream_gene_variant THCA-US 6 152332842 152332842 single base substitution G A intron_variant THCA-US 6 152332842 152332842 single base substitution G A stop_gained W210* 629G>A THCA-US 6 152332842 152332842 single base substitution G A stop_gained W271* 812G>A THCA-US 6 152332842 152332842 single base substitution G A stop_gained W383* 1148G>A THCA-US 6 152332842 152332842 single base substitution G A stop_gained W56* 167G>A UCEC-US 6 152163850 152163850 single base substitution T C intron_variant UCEC-US 6 152163850 152163850 single base substitution T C missense_variant Y18H 52T>C UCEC-US 6 152163850 152163850 single base substitution T C missense_variant Y191H 571T>C UCEC-US 6 152201798 152201798 single base substitution G A intron_variant UCEC-US 6 152201798 152201798 single base substitution G A missense_variant D218N 652G>A UCEC-US 6 152201798 152201798 single base substitution G A missense_variant D3N 7G>A UCEC-US 6 152201798 152201798 single base substitution G A missense_variant D45N 133G>A UCEC-US 6 152201885 152201885 single base substitution G A intron_variant UCEC-US 6 152201885 152201885 single base substitution G A missense_variant E247K 739G>A UCEC-US 6 152201885 152201885 single base substitution G A missense_variant E32K 94G>A UCEC-US 6 152201885 152201885 single base substitution G A missense_variant E74K 220G>A UCEC-US 6 152382133 152382141 deletion of <=200bp GGAAAATGT - inframe_deletion GKC154 UCEC-US 6 152382133 152382141 deletion of <=200bp GGAAAATGT - inframe_deletion GKC242 UCEC-US 6 152382133 152382141 deletion of <=200bp GGAAAATGT - inframe_deletion GKC303 UCEC-US 6 152382133 152382141 deletion of <=200bp GGAAAATGT - inframe_deletion GKC415 UCEC-US 6 152382133 152382141 deletion of <=200bp GGAAAATGT - inframe_deletion GKC88 UCEC-US 6 152382138 152382138 single base substitution A C missense_variant K155N 465A>C UCEC-US 6 152382138 152382138 single base substitution A C missense_variant K243N 729A>C UCEC-US 6 152382138 152382138 single base substitution A C missense_variant K304N 912A>C UCEC-US 6 152382138 152382138 single base substitution A C missense_variant K416N 1248A>C UCEC-US 6 152382138 152382138 single base substitution A C missense_variant K89N 267A>C UCEC-US 6 152382152 152382154 deletion of <=200bp TGG - inframe_deletion MV160M UCEC-US 6 152382152 152382154 deletion of <=200bp TGG - inframe_deletion MV248M UCEC-US 6 152382152 152382154 deletion of <=200bp TGG - inframe_deletion MV309M UCEC-US 6 152382152 152382154 deletion of <=200bp TGG - inframe_deletion MV421M UCEC-US 6 152382152 152382154 deletion of <=200bp TGG - inframe_deletion MV94M UCEC-US 6 152382210 152382210 single base substitution G A downstream_gene_variant UCEC-US 6 152382210 152382210 single base substitution G A synonymous_variant L179L 537G>A UCEC-US 6 152382210 152382210 single base substitution G A synonymous_variant L267L 801G>A UCEC-US 6 152382210 152382210 single base substitution G A synonymous_variant L328L 984G>A UCEC-US 6 152382210 152382210 single base substitution G A synonymous_variant L440L 1320G>A UCEC-US 6 152382234 152382234 single base substitution C G downstream_gene_variant UCEC-US 6 152382234 152382234 single base substitution C G synonymous_variant L187L 561C>G UCEC-US 6 152382234 152382234 single base substitution C G synonymous_variant L275L 825C>G UCEC-US 6 152382234 152382234 single base substitution C G synonymous_variant L336L 1008C>G UCEC-US 6 152382234 152382234 single base substitution C G synonymous_variant L448L 1344C>G UCEC-US 6 152419922 152419922 single base substitution T A intron_variant UCEC-US 6 152419922 152419922 single base substitution T A missense_variant Y276N 826T>A UCEC-US 6 152419922 152419922 single base substitution T A missense_variant Y425N 1273T>A UCEC-US 6 152419922 152419922 single base substitution T A missense_variant Y537N 1609T>A UCEC-US 6 152419923 152419923 single base substitution A C intron_variant UCEC-US 6 152419923 152419923 single base substitution A C missense_variant Y276S 827A>C UCEC-US 6 152419923 152419923 single base substitution A C missense_variant Y425S 1274A>C UCEC-US 6 152419923 152419923 single base substitution A C missense_variant Y537S 1610A>C UCEC-US 6 152419923 152419923 single base substitution A G intron_variant UCEC-US 6 152419923 152419923 single base substitution A G missense_variant Y276C 827A>G UCEC-US 6 152419923 152419923 single base substitution A G missense_variant Y425C 1274A>G UCEC-US 6 152419923 152419923 single base substitution A G missense_variant Y537C 1610A>G UCEC-US 6 152419926 152419926 single base substitution A G intron_variant UCEC-US 6 152419926 152419926 single base substitution A G missense_variant D277G 830A>G UCEC-US 6 152419926 152419926 single base substitution A G missense_variant D426G 1277A>G UCEC-US 6 152419926 152419926 single base substitution A G missense_variant D538G 1613A>G UCEC-US 6 152419977 152419977 single base substitution G A intron_variant UCEC-US 6 152419977 152419977 single base substitution G A missense_variant R294H 881G>A UCEC-US 6 152419977 152419977 single base substitution G A missense_variant R443H 1328G>A UCEC-US 6 152419977 152419977 single base substitution G A missense_variant R555H 1664G>A UCEC-US 6 152443751 152443751 single base substitution G A intron_variant UCEC-US 6 152443792 152443792 single base substitution C T intron_variant UCEC-US 6 152451882 152451882 single base substitution C T downstream_gene_variant UCEC-US 6 152453303 152453303 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BD177T COSM5517355 c.1074C>G p.I358M Substitution - Missense 6:151944486-151944486 + 2462444 COSM5415893 c.? p.L536_D538>P Complex - deletion inframe 2308941 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-D8-A27V-01 COSM3829320 c.1138G>C p.E380Q Substitution - Missense 6:152011697-152011697 + 2308093 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + Gp5D COSM3019459 c.544A>G p.T182A Substitution - Missense 6:151842688-151842688 + TCGA-AO-A03M-01 COSM3829323 c.1567G>C p.E523Q Substitution - Missense 6:152098745-152098745 + 2308921 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308103 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-19-1790 COSM2156042 c.496G>T p.A166S Substitution - Missense 6:151842640-151842640 + 2313154 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + TCGA-EI-6882-01 COSM3430123 c.650A>G p.N217S Substitution - Missense 6:151880661-151880661 + 585208 COSM325271 c.1A>G p.M1V Substitution - Missense 6:151807913-151807913 + 2308988 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2307951 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308950 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-BR-4257-01 COSM3859166 c.37G>A p.A13T Substitution - Missense 6:151807949-151807949 + PD18264a COSM1074637 c.1610A>G p.Y537C Substitution - Missense 6:152098788-152098788 + 7T COSM5575622 c.190G>A p.A64T Substitution - Missense 6:151808102-151808102 + 2309024 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2443656 COSM5413588 c.? p.D538G Substitution - Missense TCGA-B5-A11F-01 COSM1074639 c.1610A>C p.Y537S Substitution - Missense 6:152098788-152098788 + T2643 COSM4681735 c.1753A>T p.T585S Substitution - Missense 6:152098931-152098931 + 2308966 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-BS-A0U8-01 COSM1074622 c.857T>C p.M286T Substitution - Missense 6:151944269-151944269 + 2492703 COSM5716136 c.1071G>A p.M357I Substitution - Missense 6:151944483-151944483 + SH-7282 COSM3761556 c.1782G>A p.T594T Substitution - coding silent 6:152098960-152098960 + CSCC-27-T COSM4503501 c.640C>T p.Q214* Substitution - Nonsense 6:151842784-151842784 + 2308854 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + CPCG0249-F1 COSM4879972 c.440C>T p.P147L Substitution - Missense 6:151808352-151808352 + 0006_CRUK_PC_0006_T4_DNA COSM3849689 c.1489C>T p.L497L Substitution - coding silent 6:152094504-152094504 + 2462468 COSM5415894 c.? p.Y537N Substitution - Missense 2308996 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-37-5819-01 COSM740574 c.1117C>A p.H373N Substitution - Missense 6:152011676-152011676 + TCGA-EE-A29M-06 COSM3621515 c.1724C>T p.S575L Substitution - Missense 6:152098902-152098902 + 2492721 COSM5720794 c.795G>A p.L265L Substitution - coding silent 6:151944207-151944207 + 2308112 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308896 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308993 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + T16 COSM1074642 c.1664G>A p.R555H Substitution - Missense 6:152098842-152098842 + 2443653 COSM5413588 c.? p.D538G Substitution - Missense 2309026 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308969 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + SNUH_G73_S1 COSM3761554 c.30T>C p.S10S Substitution - coding silent 6:151807942-151807942 + 2468257 COSM5413589 c.? p.Y537S Substitution - Missense 2468315 COSM5413589 c.? p.Y537S Substitution - Missense TCGA-CJ-5678-01 COSM483551 c.1284G>T p.L428L Substitution - coding silent 6:152061039-152061039 + 2308684 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + S12-23181-TP COSM4992439 c.630G>A p.K210K Substitution - coding silent 6:151842774-151842774 + LUAD-B02216 COSM335708 c.802A>C p.K268Q Substitution - Missense 6:151944214-151944214 + TCGA-B5-A0K7-01 COSM1074624 c.1243_1251delGGAAAATGT p.G415_C417delGKC Deletion - In frame 6:152060998-152061006 + 2308975 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2307946 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + YUKSI COSM5404575 c.1430G>A p.R477Q Substitution - Missense 6:152094445-152094445 + 2313920 COSM3829320 c.1138G>C p.E380Q Substitution - Missense 6:152011697-152011697 + WHIM24 COSM3829320 c.1138G>C p.E380Q Substitution - Missense 6:152011697-152011697 + SK00072_P COSM1599950 c.472C>T p.R158C Substitution - Missense 6:151842616-151842616 + 2443751 COSM5413588 c.? p.D538G Substitution - Missense 2308104 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + CHC433T COSM3761556 c.1782G>A p.T594T Substitution - coding silent 6:152098960-152098960 + 2546229 COSM1074635 c.1609T>A p.Y537N Substitution - Missense 6:152098787-152098787 + TCGA-HU-A4G8-01 COSM3859168 c.719G>A p.C240Y Substitution - Missense 6:151880730-151880730 + ESCC_111 COSM5639379 c.996T>C p.D332D Substitution - coding silent 6:151944408-151944408 + 2468257 COSM5415894 c.? p.Y537N Substitution - Missense TCGA-CA-6716-01 COSM1441236 c.1635C>T p.D545D Substitution - coding silent 6:152098813-152098813 + 2308994 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-AA-A010-01 COSM280866 c.25G>A p.A9T Substitution - Missense 6:151807937-151807937 + 2308962 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308953 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + SC-her2-071 COSM1074639 c.1610A>C p.Y537S Substitution - Missense 6:152098788-152098788 + BD165T COSM5506218 c.309G>A p.V103V Substitution - coding silent 6:151808221-151808221 + TCGA-F5-6814-01 COSM3430122 c.453-1G>T p.? Unknown 6:151842596-151842596 + 2308931 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308985 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + I2L-P19Tb-Tumor-Organoid COSM5357378 c.1257G>T p.E419D Substitution - Missense 6:152061012-152061012 + ML_30_T_01 COSM3761554 c.30T>C p.S10S Substitution - coding silent 6:151807942-151807942 + 2308928 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2309022 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308999 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + I2L-P19Tb-Tumor-Biopsy COSM5357378 c.1257G>T p.E419D Substitution - Missense 6:152061012-152061012 + 2468318 COSM5413589 c.? p.Y537S Substitution - Missense sysucc-1317T COSM5450193 c.180C>T p.Y60Y Substitution - coding silent 6:151808092-151808092 + TCGA-E2-A10A-01 COSM450698 c.81_84delCCGT p.P29fs*79 Deletion - Frameshift 6:151807993-151807996 + TCGA-BR-4188-01 COSM206426 c.932C>T p.T311M Substitution - Missense 6:151944344-151944344 + 2313877 COSM4944018 c.? p.P535H Substitution - Missense 2308844 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308933 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2309027 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2462456 COSM5413589 c.? p.Y537S Substitution - Missense ESO-721 COSM1251507 c.411C>A p.S137R Substitution - Missense 6:151808323-151808323 + T4 COSM5345064 c.1131C>A p.H377Q Substitution - Missense 6:152011690-152011690 + 2308979 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2462445 COSM5413590 c.? p.Y537C Substitution - Missense 164T COSM1441237 c.1643G>A p.R548H Substitution - Missense 6:152098821-152098821 + LN18 COSM3019480 c.1677C>G p.S559S Substitution - coding silent 6:152098855-152098855 + 2308927 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308990 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2462457 COSM5413589 c.? p.Y537S Substitution - Missense WHIM23 COSM1074639 c.1610A>C p.Y537S Substitution - Missense 6:152098788-152098788 + TCGA-AX-A0IS-01 COSM1074635 c.1609T>A p.Y537N Substitution - Missense 6:152098787-152098787 + 2308983 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308853 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + BD216T COSM3662204 c.1269G>T p.E423D Substitution - Missense 6:152061024-152061024 + TCGA-BG-A0MU-01 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + 2308679 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-37-3783-01 COSM740582 c.119G>T p.G40V Substitution - Missense 6:151808031-151808031 + I2L-P19Ta-Tumor-Organoid COSM5357250 c.1600G>A p.V534M Substitution - Missense 6:152098778-152098778 + SH-1679 COSM3761556 c.1782G>A p.T594T Substitution - coding silent 6:152098960-152098960 + TCGA-06-0645-01 COSM42918 c.936C>T p.A312A Substitution - coding silent 6:151944348-151944348 + SC-her2-070 COSM1074639 c.1610A>C p.Y537S Substitution - Missense 6:152098788-152098788 + S00022 COSM5656533 c.267C>A p.F89L Substitution - Missense 6:151808179-151808179 + 2308945 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + SH-1439 COSM1559733 c.16C>T p.H6Y Substitution - Missense 6:151807928-151807928 + 2308929 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308957 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2307949 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308847 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + SC-her2-025 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + PCSI0048 COSM216739 c.1688C>T p.T563M Substitution - Missense 6:152098866-152098866 + TCGA-KK-A59X-01 COSM4877756 c.766C>T p.R256* Substitution - Nonsense 6:151944178-151944178 + SH-2871 COSM3761556 c.1782G>A p.T594T Substitution - coding silent 6:152098960-152098960 + 2313923 COSM1074637 c.1610A>G p.Y537C Substitution - Missense 6:152098788-152098788 + 2313924 COSM1074635 c.1609T>A p.Y537N Substitution - Missense 6:152098787-152098787 + 9583_CLM COSM5756778 c.721C>T p.R241W Substitution - Missense 6:151880732-151880732 + 2308910 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308620 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308965 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2468316 COSM5413589 c.? p.Y537S Substitution - Missense TCGA-18-3409-01 COSM740571 c.1462C>T p.H488Y Substitution - Missense 6:152094477-152094477 + TCGA-B5-A11E-01 COSM1074619 c.652G>A p.D218N Substitution - Missense 6:151880663-151880663 + 2318581 COSM1074635 c.1609T>A p.Y537N Substitution - Missense 6:152098787-152098787 + 2308956 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308919 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-AX-A06H-01 COSM1074630 c.1320G>A p.L440L Substitution - coding silent 6:152061075-152061075 + CTCM165 COSM5413588 c.? p.D538G Substitution - Missense pfg043T COSM4762688 c.1357T>G p.L453V Substitution - Missense 6:152061112-152061112 + 2308934 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2309220 COSM1074639 c.1610A>C p.Y537S Substitution - Missense 6:152098788-152098788 + 2309233 COSM1074635 c.1609T>A p.Y537N Substitution - Missense 6:152098787-152098787 + TCGA-AN-A046-01 COSM3829324 c.1778C>A p.A593D Substitution - Missense 6:152098956-152098956 + 2309012 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-EI-6507-01 COSM1568008 c.568G>A p.D190N Substitution - Missense 6:151842712-151842712 + TCGA-DR-A0ZM-01 COSM461875 c.1116C>G p.L372L Substitution - coding silent 6:152011675-152011675 + TCGA-F5-6814-01 COSM280867 c.739G>A p.E247K Substitution - Missense 6:151880750-151880750 + 2443652 COSM5413590 c.? p.Y537C Substitution - Missense 2468261 COSM5413589 c.? p.Y537S Substitution - Missense 2468261 COSM5413588 c.? p.D538G Substitution - Missense TCGA-21-1076-01 COSM740570 c.1542C>A p.I514I Substitution - coding silent 6:152094557-152094557 + TCGA-ES-A2HS-01 COSM4910532 c.1279A>G p.M427V Substitution - Missense 6:152061034-152061034 + 2308923 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308951 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + PD13622a COSM5780168 c.848C>T p.A283V Substitution - Missense 6:151944260-151944260 + 2309175 COSM1074637 c.1610A>G p.Y537C Substitution - Missense 6:152098788-152098788 + 2308944 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308842 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-08-0360-01 COSM1559734 c.288T>G p.G96G Substitution - coding silent 6:151808200-151808200 + 2313165 COSM4745938 c.207C>G p.N69K Substitution - Missense 6:151808119-151808119 + CAL27 COSM3019455 c.473G>A p.R158H Substitution - Missense 6:151842617-151842617 + 2308981 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + T2944 COSM3859170 c.738C>T p.Y246Y Substitution - coding silent 6:151880749-151880749 + TCGA-18-3417-01 COSM740575 c.885G>T p.P295P Substitution - coding silent 6:151944297-151944297 + 2492722 COSM5720794 c.795G>A p.L265L Substitution - coding silent 6:151944207-151944207 + TCGA-G4-6321-01 COSM3761555 c.261G>C p.A87A Substitution - coding silent 6:151808173-151808173 + 2308683 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2462462 COSM5413588 c.? p.D538G Substitution - Missense 2308902 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2313156 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + 2443661 COSM5413588 c.? p.D538G Substitution - Missense TCGA-BR-6452-01 COSM3859177 c.1429C>T p.R477* Substitution - Nonsense 6:152094444-152094444 + NB-1480 COSM1284781 c.1653G>A p.A551A Substitution - coding silent 6:152098831-152098831 + COLO205 COSM4621386 c.342G>A p.P114P Substitution - coding silent 6:151808254-151808254 + 2443715 COSM5413588 c.? p.D538G Substitution - Missense TCGA-06-0189-01 COSM1559733 c.16C>T p.H6Y Substitution - Missense 6:151807928-151807928 + 2308848 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-CI-6621-01 COSM3430121 c.29C>G p.S10C Substitution - Missense 6:151807941-151807941 + 2308109 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308903 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + T3724 COSM4681727 c.659T>C p.M220T Substitution - Missense 6:151880670-151880670 + 2468319 COSM5413589 c.? p.Y537S Substitution - Missense 2462459 COSM5413589 c.? p.Y537S Substitution - Missense TCGA-AA-3858-01 COSM272033 c.681C>A p.C227* Substitution - Nonsense 6:151880692-151880692 + 2308936 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2307940 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2309025 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2313876 COSM1074635 c.1609T>A p.Y537N Substitution - Missense 6:152098787-152098787 + 2308938 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308937 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308599 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308926 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + ESO-135 COSM1251506 c.981C>G p.L327L Substitution - coding silent 6:151944393-151944393 + 2309171 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + CN-AML-CR-67-Dx COSM3761554 c.30T>C p.S10S Substitution - coding silent 6:151807942-151807942 + SK00072_M COSM1599950 c.472C>T p.R158C Substitution - Missense 6:151842616-151842616 + Pat_51_A COSM5869520 c.728G>T p.R243L Substitution - Missense 6:151880739-151880739 + 2308856 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308946 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-CM-5861-01 COSM1441231 c.919G>T p.A307S Substitution - Missense 6:151944331-151944331 + WA48 COSM239746 c.1597G>A p.V533M Substitution - Missense 6:152098775-152098775 + 2462460 COSM5413589 c.? p.Y537S Substitution - Missense HX5T COSM1621070 c.349C>T p.L117L Substitution - coding silent 6:151808261-151808261 + WHIM20 COSM1074639 c.1610A>C p.Y537S Substitution - Missense 6:152098788-152098788 + 2307939 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308907 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308846 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308899 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2313922 COSM4774826 c.1607T>G p.L536R Substitution - Missense 6:152098785-152098785 + 2443657 COSM5413589 c.? p.Y537S Substitution - Missense ESCC_126 COSM5641375 c.339G>C p.P113P Substitution - coding silent 6:151808251-151808251 + 2309011 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2318502 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + TCGA-EE-A29D-06 COSM3621512 c.1300C>T p.R434W Substitution - Missense 6:152061055-152061055 + 2308914 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2309015 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + CLN2 COSM5024784 c.1292C>T p.T431I Substitution - Missense 6:152061047-152061047 + 2468314 COSM5413589 c.? p.Y537S Substitution - Missense PCSI_0048_Pa_P COSM216739 c.1688C>T p.T563M Substitution - Missense 6:152098866-152098866 + 2308915 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2309018 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308110 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + SNU-C1 COSM4651023 c.345G>A p.P115P Substitution - coding silent 6:151808257-151808257 + 2462458 COSM5413589 c.? p.Y537S Substitution - Missense 2313879 COSM1074639 c.1610A>C p.Y537S Substitution - Missense 6:152098788-152098788 + 2308897 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308942 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + SH-1641 COSM3761556 c.1782G>A p.T594T Substitution - coding silent 6:152098960-152098960 + TCGA-AM-5821-01 COSM3761554 c.30T>C p.S10S Substitution - coding silent 6:151807942-151807942 + 2308987 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308930 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2307941 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308967 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2468262 COSM5413590 c.? p.Y537C Substitution - Missense SC-her2-019 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + T578 COSM280867 c.739G>A p.E247K Substitution - Missense 6:151880750-151880750 + 2308849 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2307937 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-BH-A0DS-01 COSM450699 c.664C>T p.P222S Substitution - Missense 6:151880675-151880675 + SC_9021 COSM5560915 c.870C>A p.N290K Substitution - Missense 6:151944282-151944282 + BD141T COSM3621508 c.727C>T p.R243C Substitution - Missense 6:151880738-151880738 + 2313924 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + 2462469 COSM5413588 c.? p.D538G Substitution - Missense 2318503 COSM1074639 c.1610A>C p.Y537S Substitution - Missense 6:152098788-152098788 + 2367119 COSM1074637 c.1610A>G p.Y537C Substitution - Missense 6:152098788-152098788 + 2443654 COSM5413588 c.? p.D538G Substitution - Missense PCSI_0048_Pa_P_526 COSM216739 c.1688C>T p.T563M Substitution - Missense 6:152098866-152098866 + TCGA-A5-A0GQ-01 COSM1074628 c.1262_1264delTGG p.V422delV Deletion - In frame 6:152061017-152061019 + 2309014 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308839 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2309193 COSM3829320 c.1138G>C p.E380Q Substitution - Missense 6:152011697-152011697 + 2313165 COSM4745939 c.1186A>G p.M396V Substitution - Missense 6:152011745-152011745 + SC-her2-044 COSM4774827 c.1601T>A p.V534E Substitution - Missense 6:152098779-152098779 + 587226 COSM1205678 c.172G>A p.A58T Substitution - Missense 6:151808084-151808084 + 2308974 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308976 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + M5A COSM5413588 c.? p.D538G Substitution - Missense 2318496 COSM1074639 c.1610A>C p.Y537S Substitution - Missense 6:152098788-152098788 + TCGA-AC-A23H-01 COSM1074632 c.1344C>G p.L448L Substitution - coding silent 6:152061099-152061099 + 2309208 COSM1074635 c.1609T>A p.Y537N Substitution - Missense 6:152098787-152098787 + ESCC_73 COSM5634610 c.912C>T p.N304N Substitution - coding silent 6:151944324-151944324 + 2492720 COSM5720794 c.795G>A p.L265L Substitution - coding silent 6:151944207-151944207 + 2492723 COSM5720794 c.795G>A p.L265L Substitution - coding silent 6:151944207-151944207 + 2308841 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2309023 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2307948 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2468266 COSM5413590 c.? p.Y537C Substitution - Missense 2318491 COSM4766050 c.1607_1608TC>AG p.L536Q Substitution - Missense 6:152098785-152098786 + TCGA-CM-4743-01 COSM1441228 c.792G>T p.M264I Substitution - Missense 6:151944204-151944204 + 2309000 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2309309 COSM4745842 c.1507C>T p.R503W Substitution - Missense 6:152094522-152094522 + TCGA-IR-A3LA-01 COSM4845847 c.617A>G p.K206R Substitution - Missense 6:151842761-151842761 + 2462443 COSM5413588 c.? p.D538G Substitution - Missense 2309005 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308909 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-A6-5667-01 COSM244313 c.987C>T p.S329S Substitution - coding silent 6:151944399-151944399 + 2546230 COSM1074635 c.1609T>A p.Y537N Substitution - Missense 6:152098787-152098787 + 2308958 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308840 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308932 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308948 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2307936 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-CC-A7II-01 COSM4937570 c.129C>A p.Y43* Substitution - Nonsense 6:151808041-151808041 + BD121T COSM3019471 c.1096+10C>T p.? Unknown 6:151944518-151944518 + 2313150 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + 587376 COSM1205680 c.632G>T p.R211I Substitution - Missense 6:151842776-151842776 + 2367159 COSM1074639 c.1610A>C p.Y537S Substitution - Missense 6:152098788-152098788 + TCGA-19-1790-01 COSM2156042 c.496G>T p.A166S Substitution - Missense 6:151842640-151842640 + 2308964 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308924 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2307945 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-G4-6302-01 COSM3697577 c.276C>T p.N92N Substitution - coding silent 6:151808188-151808188 + 2462453 COSM5413588 c.? p.D538G Substitution - Missense TCGA-EE-A29L-06 COSM3621510 c.1243G>A p.G415R Substitution - Missense 6:152060998-152060998 + 2308973 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 462 COSM4436896 c.1573C>T p.L525L Substitution - coding silent 6:152098751-152098751 + ESCC_126 COSM5641373 c.335A>T p.H112L Substitution - Missense 6:151808247-151808247 + T3225 COSM4681733 c.1636G>A p.A546T Substitution - Missense 6:152098814-152098814 + 2309228 COSM1074637 c.1610A>G p.Y537C Substitution - Missense 6:152098788-152098788 + TCGA-51-4081-01 COSM740580 c.512A>T p.K171M Substitution - Missense 6:151842656-151842656 + 2308978 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308901 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308984 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308096 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2307938 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2462467 COSM5413590 c.? p.Y537C Substitution - Missense 2462448 COSM5413589 c.? p.Y537S Substitution - Missense PD18264a COSM1074637 c.1610A>G p.Y537C Substitution - Missense 6:152098788-152098788 + 587376 COSM1205681 c.643G>T p.G215* Substitution - Nonsense 6:151842787-151842787 + TCGA-G3-A7M7-01 COSM4929936 c.1370-1G>A p.? Unknown 6:152094384-152094384 + 2313878 COSM1074637 c.1610A>G p.Y537C Substitution - Missense 6:152098788-152098788 + 2443713 COSM5413588 c.? p.D538G Substitution - Missense TCGA-AA-3712-01 COSM3761555 c.261G>C p.A87A Substitution - coding silent 6:151808173-151808173 + 2468320 COSM5415894 c.? p.Y537N Substitution - Missense SC-her2-026 COSM4774826 c.1607T>G p.L536R Substitution - Missense 6:152098785-152098785 + 2443650 COSM5413588 c.? p.D538G Substitution - Missense 2308916 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-A6-6653-01 COSM1441230 c.885G>A p.P295P Substitution - coding silent 6:151944297-151944297 + PCSI_0210_Pa_P_526 COSM4964383 c.1006C>G p.P336A Substitution - Missense 6:151944418-151944418 + 2468267 COSM5413589 c.? p.Y537S Substitution - Missense TCGA-AA-A010-01 COSM280867 c.739G>A p.E247K Substitution - Missense 6:151880750-151880750 + 2308678 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308086 COSM4745828 c.905_905delA p.K302fs*9 Deletion - Frameshift 6:151944317-151944317 + CR108 COSM4994794 c.974C>T p.P325L Substitution - Missense 6:151944386-151944386 + SC-her2-025 COSM1074639 c.1610A>C p.Y537S Substitution - Missense 6:152098788-152098788 + TCGA-DI-A1NN-01 COSM1074632 c.1344C>G p.L448L Substitution - coding silent 6:152061099-152061099 + 2309007 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308837 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2309017 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308998 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308980 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2309020 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + Gp2D COSM3019459 c.544A>G p.T182A Substitution - Missense 6:151842688-151842688 + PD13768a COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + 2462464 COSM5413588 c.? p.D538G Substitution - Missense LUAD-S01413 COSM347326 c.1713G>A p.A571A Substitution - coding silent 6:152098891-152098891 + SH-6055 COSM3761556 c.1782G>A p.T594T Substitution - coding silent 6:152098960-152098960 + CTCM72 COSM5413588 c.? p.D538G Substitution - Missense 2468265 COSM5415894 c.? p.Y537N Substitution - Missense 2309008 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2313921 COSM1545070 c.1174G>A p.V392I Substitution - Missense 6:152011733-152011733 + P149 COSM1545070 c.1174G>A p.V392I Substitution - Missense 6:152011733-152011733 + T368 COSM4681726 c.148G>A p.A50T Substitution - Missense 6:151808060-151808060 + 2468264 COSM5415894 c.? p.Y537N Substitution - Missense 2308090 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308904 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + SH-7032 COSM3761556 c.1782G>A p.T594T Substitution - coding silent 6:152098960-152098960 + 2462452 COSM5413588 c.? p.D538G Substitution - Missense 2307943 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2492701 COSM5716136 c.1071G>A p.M357I Substitution - Missense 6:151944483-151944483 + 2313880 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + 2462446 COSM5413588 c.? p.D538G Substitution - Missense 2308905 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308959 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-06-0645 COSM42918 c.936C>T p.A312A Substitution - coding silent 6:151944348-151944348 + TCGA-66-2771-01 COSM740577 c.587A>G p.H196R Substitution - Missense 6:151842731-151842731 + TCGA-19-1789 COSM2156027 c.671C>A p.T224N Substitution - Missense 6:151880682-151880682 + 2308949 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-08-0357-01 COSM1559735 c.703A>T p.K235* Substitution - Nonsense 6:151880714-151880714 + 2309235 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + 2309219 COSM4745843 c.1033_1034insGCT p.G344_L345insC Insertion - In frame 6:151944445-151944446 + SH-0348 COSM3761556 c.1782G>A p.T594T Substitution - coding silent 6:152098960-152098960 + SC-her2-014 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + 2308900 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2462461 COSM5413589 c.? p.Y537S Substitution - Missense PT55 COSM3621512 c.1300C>T p.R434W Substitution - Missense 6:152061055-152061055 + CTCM62 COSM5413588 c.? p.D538G Substitution - Missense 2313925 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + 2318582 COSM4766056 c.140G>C p.S47T Substitution - Missense 6:151808052-151808052 + 2308913 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308972 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308920 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + LUAD-S01346 COSM397837 c.86C>A p.P29Q Substitution - Missense 6:151807998-151807998 + 2468266 COSM5413589 c.? p.Y537S Substitution - Missense CTCM109 COSM5413588 c.? p.D538G Substitution - Missense CTCM14 COSM5413588 c.? p.D538G Substitution - Missense S01022 COSM5666097 c.1603C>A p.P535T Substitution - Missense 6:152098781-152098781 + 112628 COSM94248 c.1465C>G p.L489V Substitution - Missense 6:152094480-152094480 + 2318583 COSM4766057 c.1591A>G p.K531E Substitution - Missense 6:152098769-152098769 + 2308111 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 9399_CLM COSM5756780 c.1165A>C p.I389L Substitution - Missense 6:152011724-152011724 + 2308917 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308908 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308935 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + T3204 COSM4681734 c.1652C>T p.A551V Substitution - Missense 6:152098830-152098830 + M5D COSM5413588 c.? p.D538G Substitution - Missense 2318492 COSM1074639 c.1610A>C p.Y537S Substitution - Missense 6:152098788-152098788 + 2308955 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-D1-A17Q-01 COSM1074642 c.1664G>A p.R555H Substitution - Missense 6:152098842-152098842 + T3024 COSM4681734 c.1652C>T p.A551V Substitution - Missense 6:152098830-152098830 + 2443652 COSM5413589 c.? p.Y537S Substitution - Missense 2462455 COSM5413588 c.? p.D538G Substitution - Missense 3N38-VS-3T38 COSM1074632 c.1344C>G p.L448L Substitution - coding silent 6:152061099-152061099 + 2309010 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + CCC1T COSM3662204 c.1269G>T p.E423D Substitution - Missense 6:152061024-152061024 + 396 COSM4428864 c.597C>T p.V199V Substitution - coding silent 6:151842741-151842741 + Br07X COSM40959 c.1022C>T p.S341L Substitution - Missense 6:151944434-151944434 + TCGA-AZ-6601-01 COSM1441237 c.1643G>A p.R548H Substitution - Missense 6:152098821-152098821 + 2308947 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308091 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308954 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + SC-her2-005 COSM1074639 c.1610A>C p.Y537S Substitution - Missense 6:152098788-152098788 + PD8622a COSM5802338 c.58_59insG p.N21fs*65 Insertion - Frameshift 6:151807970-151807971 + 2308989 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + PD24320a COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + 2443714 COSM5413589 c.? p.Y537S Substitution - Missense 2462470 COSM5415895 c.? p.V533M Substitution - Missense 587342 COSM1205679 c.1471G>A p.A491T Substitution - Missense 6:152094486-152094486 + SC-her2-019 COSM4771561 c.1387T>C p.S463P Substitution - Missense 6:152094402-152094402 + CCC1 COSM3662204 c.1269G>T p.E423D Substitution - Missense 6:152061024-152061024 + 2307947 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2309004 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-AP-A0LM-01 COSM1074626 c.1248A>C p.K416N Substitution - Missense 6:152061003-152061003 + 2309006 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308681 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308850 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2468255 COSM5413590 c.? p.Y537C Substitution - Missense S00035 COSM5656853 c.824A>T p.E275V Substitution - Missense 6:151944236-151944236 + I2L-P19Ta-Tumor-Biopsy COSM5357250 c.1600G>A p.V534M Substitution - Missense 6:152098778-152098778 + TCGA-AA-3492-01 COSM1441225 c.202G>A p.A68T Substitution - Missense 6:151808114-151808114 + TCGA-18-3409-01 COSM740573 c.1461C>T p.I487I Substitution - coding silent 6:152094476-152094476 + CHC892T COSM4798340 c.305G>A p.S102N Substitution - Missense 6:151808217-151808217 + 2308092 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2367117 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + 2367118 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + TCGA-42-2587-01 COSM1329267 c.1006C>A p.P336T Substitution - Missense 6:151944418-151944418 + MO_1012 COSM5547761 c.1755delG p.E587fs*>9 Deletion - Frameshift 6:152098933-152098933 + 2308943 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308108 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2468317 COSM5413589 c.? p.Y537S Substitution - Missense CSCC-18-T COSM4506677 c.726C>T p.L242L Substitution - coding silent 6:151880737-151880737 + 2443659 COSM5413588 c.? p.D538G Substitution - Missense 2443752 COSM5413588 c.? p.D538G Substitution - Missense PCSI_0326_Pa_P_526 COSM4965319 c.1164G>A p.M388I Substitution - Missense 6:152011723-152011723 + 2308991 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308992 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2309002 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2307944 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-AP-A056-01 COSM280867 c.739G>A p.E247K Substitution - Missense 6:151880750-151880750 + 2468268 COSM5413589 c.? p.Y537S Substitution - Missense TCGA-EE-A3JD-06 COSM280867 c.739G>A p.E247K Substitution - Missense 6:151880750-151880750 + 2308922 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308952 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2462463 COSM5413588 c.? p.D538G Substitution - Missense BD121T COSM5515166 c.1403C>T p.S468F Substitution - Missense 6:152094418-152094418 + 2308971 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308102 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + ESCC_126 COSM5641374 c.338C>A p.P113Q Substitution - Missense 6:151808250-151808250 + 4760_PT COSM206426 c.932C>T p.T311M Substitution - Missense 6:151944344-151944344 + TCGA-B5-A0K9-01 COSM239746 c.1597G>A p.V533M Substitution - Missense 6:152098775-152098775 + 107546 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + M14 COSM5413588 c.? p.D538G Substitution - Missense 2308852 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 4760_CLM COSM206426 c.932C>T p.T311M Substitution - Missense 6:151944344-151944344 + SH-9161 COSM3761556 c.1782G>A p.T594T Substitution - coding silent 6:152098960-152098960 + TCGA-G4-6588-01 COSM1441229 c.871C>A p.L291I Substitution - Missense 6:151944283-151944283 + TCGA-HF-7132-01 COSM3859167 c.92T>C p.L31P Substitution - Missense 6:151808004-151808004 + TCGA-BS-A0TA-01 COSM1074617 c.571T>C p.Y191H Substitution - Missense 6:151842715-151842715 + 2308906 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2309001 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308977 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2309019 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308968 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308898 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + T263 COSM4681729 c.720C>T p.C240C Substitution - coding silent 6:151880731-151880731 + 2309218 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + TCGA-DJ-A3UU-01 COSM3374095 c.1148G>A p.W383* Substitution - Nonsense 6:152011707-152011707 + 2309009 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308855 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2462465 COSM5413590 c.? p.Y537C Substitution - Missense 2309216 COSM1074639 c.1610A>C p.Y537S Substitution - Missense 6:152098788-152098788 + CHC892T COSM4798340 c.305G>A p.S102N Substitution - Missense 6:151808217-151808217 + 2308088 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308097 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308680 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2462454 COSM5413589 c.? p.Y537S Substitution - Missense TCGA-BR-7196-01 COSM3859178 c.1781C>T p.T594M Substitution - Missense 6:152098959-152098959 + T2269 COSM1599950 c.472C>T p.R158C Substitution - Missense 6:151842616-151842616 + TCGA-AA-A00N-01 COSM298658 c.767G>A p.R256Q Substitution - Missense 6:151944179-151944179 + 2308960 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + Pat_59_A COSM5869522 c.1343T>C p.L448P Substitution - Missense 6:152061098-152061098 + 86576 COSM94249 c.1470G>C p.M490I Substitution - Missense 6:152094485-152094485 + HT115 COSM280867 c.739G>A p.E247K Substitution - Missense 6:151880750-151880750 + S03-45671-TP COSM4992437 c.624C>T p.F208F Substitution - coding silent 6:151842768-151842768 + 2307942 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308925 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2309016 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2462466 COSM5413590 c.? p.Y537C Substitution - Missense 2318494 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + PD13768a COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + TCGA-CC-A3MB-01 COSM4933668 c.887T>C p.L296P Substitution - Missense 6:151944299-151944299 + TCGA-D3-A3MR-06 COSM3621508 c.727C>T p.R243C Substitution - Missense 6:151880738-151880738 + 2308843 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2313147 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + SJHGG024_R COSM4969495 c.805C>T p.R269C Substitution - Missense 6:151944217-151944217 + 2308099 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2468258 COSM5413590 c.? p.Y537C Substitution - Missense SNU-C2B COSM1441230 c.885G>A p.P295P Substitution - coding silent 6:151944297-151944297 + 2313152 COSM94250 c.1613A>G p.D538G Substitution - Missense 6:152098791-152098791 + TCGA-D3-A5GO-06 COSM3621514 c.1388C>T p.S463F Substitution - Missense 6:152094403-152094403 + 2462447 COSM5415894 c.? p.Y537N Substitution - Missense 2309021 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308982 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2443649 COSM5413588 c.? p.D538G Substitution - Missense 2308911 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2443714 COSM5413588 c.? p.D538G Substitution - Missense sysucc-1116T COSM3621508 c.727C>T p.R243C Substitution - Missense 6:151880738-151880738 + 2307950 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + SNU-C2B COSM3019464 c.827G>A p.G276D Substitution - Missense 6:151944239-151944239 + SJHGG024_D COSM4969495 c.805C>T p.R269C Substitution - Missense 6:151944217-151944217 + 2308105 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308995 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2309028 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + T3301 COSM4681731 c.995A>T p.D332V Substitution - Missense 6:151944407-151944407 + TCGA-A6-6781-01 COSM1441227 c.776G>A p.R259Q Substitution - Missense 6:151944188-151944188 + YUSIV COSM206400 c.469C>T p.R157* Substitution - Nonsense 6:151842613-151842613 + 2443660 COSM5413588 c.? p.D538G Substitution - Missense 3N62-VS-3T62 COSM4984478 c.1218T>A p.P406P Substitution - coding silent 6:152011777-152011777 + 2308094 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308997 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + SC-her2-045 COSM1074635 c.1609T>A p.Y537N Substitution - Missense 6:152098787-152098787 + TCGA-AD-5900-01 COSM1441233 c.987C>A p.S329S Substitution - coding silent 6:151944399-151944399 + 2309003 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-BR-4184-01 COSM3859170 c.738C>T p.Y246Y Substitution - coding silent 6:151880749-151880749 + 2468265 COSM5413588 c.? p.D538G Substitution - Missense pfg057T COSM4762683 c.1211T>G p.F404C Substitution - Missense 6:152011770-152011770 + CTCM138 COSM5574254 c.? p.E380Q Substitution - Missense 2308621 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + SH-4885 COSM5018985 c.1160T>C p.L387P Substitution - Missense 6:152011719-152011719 + 2468257 COSM5413588 c.? p.D538G Substitution - Missense CSCC-10-T COSM4499782 c.54C>T p.I18I Substitution - coding silent 6:151807966-151807966 + LUAD-B00915 COSM333038 c.514G>T p.G172* Substitution - Nonsense 6:151842658-151842658 + 2492702 COSM5716136 c.1071G>A p.M357I Substitution - Missense 6:151944483-151944483 + SH-102782 COSM3761556 c.1782G>A p.T594T Substitution - coding silent 6:152098960-152098960 + 2546892 COSM5413589 c.? p.Y537S Substitution - Missense CTCM159 COSM5413588 c.? p.D538G Substitution - Missense T12 COSM5345063 c.220G>A p.G74S Substitution - Missense 6:151808132-151808132 + 19 COSM5746648 c.282delG p.G96fs*13 Deletion - Frameshift 6:151808194-151808194 + CSCC-37-T COSM4560010 c.826G>A p.G276S Substitution - Missense 6:151944238-151944238 + 2468261 COSM5415894 c.? p.Y537N Substitution - Missense 2308095 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308963 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + BD121T COSM280867 c.739G>A p.E247K Substitution - Missense 6:151880750-151880750 + 2308940 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308087 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2309013 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + pfg088T COSM3621512 c.1300C>T p.R434W Substitution - Missense 6:152061055-152061055 + TCGA-BQ-7048-01 COSM3994662 c.747A>G p.G249G Substitution - coding silent 6:151880758-151880758 + S00825 COSM5659269 c.529G>T p.E177* Substitution - Nonsense 6:151842673-151842673 + TCGA-51-4081-01 COSM740578 c.513G>A p.K171K Substitution - coding silent 6:151842657-151842657 + 2308838 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308101 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308086 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + CTCM150 COSM5413588 c.? p.D538G Substitution - Missense PT13 COSM5895812 c.851G>A p.G284E Substitution - Missense 6:151944263-151944263 + 2308100 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + C709 COSM4444115 c.1394C>A p.T465N Substitution - Missense 6:152094409-152094409 + TCGA-BR-8368-01 COSM3859175 c.1127T>C p.V376A Substitution - Missense 6:152011686-152011686 + TCGA-A5-A0GN-01 COSM1074637 c.1610A>G p.Y537C Substitution - Missense 6:152098788-152098788 + 2308106 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308986 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + SH-7166 COSM3761556 c.1782G>A p.T594T Substitution - coding silent 6:152098960-152098960 + 2462449 COSM5413589 c.? p.Y537S Substitution - Missense 2462451 COSM5413589 c.? p.Y537S Substitution - Missense 2468260 COSM5413588 c.? p.D538G Substitution - Missense TCGA-02-0047-01 COSM1559734 c.288T>G p.G96G Substitution - coding silent 6:151808200-151808200 + 2308851 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308939 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308970 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308961 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308682 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2443658 COSM5413589 c.? p.Y537S Substitution - Missense CTCM106 COSM5413588 c.? p.D538G Substitution - Missense PCSI_0009_Pa_X COSM3381460 c.1332G>A p.E444E Substitution - coding silent 6:152061087-152061087 + 2492700 COSM5716136 c.1071G>A p.M357I Substitution - Missense 6:151944483-151944483 + CTCM75 COSM5413588 c.? p.D538G Substitution - Missense PR-09-5702 COSM244313 c.987C>T p.S329S Substitution - coding silent 6:151944399-151944399 + TCGA-D8-A1J8-01 COSM3829318 c.822G>A p.G274G Substitution - coding silent 6:151944234-151944234 + 2308089 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-FP-A4BE-01 COSM239746 c.1597G>A p.V533M Substitution - Missense 6:152098775-152098775 + 2462450 COSM5413589 c.? p.Y537S Substitution - Missense 2443652 COSM5413588 c.? p.D538G Substitution - Missense TCGA-A6-5665-01 COSM1441226 c.240delC p.Y80fs*1 Deletion - Frameshift 6:151808152-151808152 + 2313876 COSM4771561 c.1387T>C p.S463P Substitution - Missense 6:152094402-152094402 + 2308098 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308918 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + SNUH_G45_S1 COSM4003740 c.975G>C p.P325P Substitution - coding silent 6:151944387-151944387 + ME016T COSM224935 c.1733C>A p.S578Y Substitution - Missense 6:152098911-152098911 + TCGA-B0-5098-01 COSM1496280 c.1054A>C p.R352R Substitution - coding silent 6:151944466-151944466 + 2308107 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308845 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + 2308912 COSM4745827 c.908A>G p.K303R Substitution - Missense 6:151944320-151944320 + TCGA-AM-5821-01 COSM3761556 c.1782G>A p.T594T Substitution - coding silent 6:152098960-152098960 + CTCM112 COSM5413589 c.? p.Y537S Substitution - Missense TCGA-D7-6817-01 COSM3859173 c.1060C>A p.L354M Substitution - Missense 6:151944472-151944472 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.208098;Hs.208111;Hs.208124 6q25.1 133430

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.Y537S c.1610A>C 6 152419923 UCEC A C Synonymous p.G415G c.1245A>C 6 152382135 CM A G CdsStartSNV . c.1A>G 6 152129048 SCLC A G IntronicSNV . c.1236-23442A>G 6 152358684 PIA A G IntronicSNV . c.1-3164A>G 6 152125884 MB A G IntronicSNV . c.1-92755A>G 6 152036293 CLL A G IntronicSNV . c.453-16669A>G 6 152147063 CLL A G Missense p.D538G c.1613A>G 6 152419926 UCEC A G Missense p.H196R c.587A>G 6 152163866 LUSC A G Missense p.Y197C c.590A>G 6 152163869 HNSC A G Missense p.Y537C c.1610A>G 6 152419923 UCEC A T Missense p.K171M c.512A>T 6 152163791 LUSC C A Missense p.A551E c.1652C>A 6 152419965 LUAD C A Missense p.H373N c.1117C>A 6 152332811 LUSC C A Missense p.L132M c.394C>A 6 152129441 HNSC C A Missense p.L354M c.1060C>A 6 152265607 STAD C A Missense p.S137R c.411C>A 6 152129458 ESCA C A Missense p.S578Y c.1733C>A 6 152420046 CM C A Nonsense p.C227* c.681C>A 6 152201827 COREAD C A Synonymous p.G276G c.828C>A 6 152265375 LUAD C A Synonymous p.I514I c.1542C>A 6 152415692 LUSC CCGT - Frameshift p.P29Sfs*79 c.84_87delTCCG 6 152129128 BRCA - C Frameshift p.L100Tfs*57 c.296dupC 6 152129338 HNSC C G Synonymous p.L327L c.981C>G 6 152265528 ESCA C G Synonymous p.L448L c.1344C>G 6 152382234 UCEC C T 5-UTRSNV . c.1-6C>T 6 152129042 ESCA C T IntronicSNV . c.1096+8291C>T 6 152273934 CLL C T Missense p.H267Y c.799C>T 6 152265346 STAD C T Missense p.P222S c.664C>T 6 152201810 BRCA C T Missense p.R158C c.472C>T 6 152163751 BRCA C T Missense p.R243C c.727C>T 6 152201873 CM C T Missense p.S329F c.986C>T 6 152265533 CM C T Missense p.S341L c.1022C>T 6 152265569 GBM C T Missense p.S575L c.1724C>T 6 152420037 CM C T Missense p.T311M c.932C>T 6 152265479 STAD C T Missense p.T563M c.1688C>T 6 152420001 PAAD C T Nonsense p.R157* c.469C>T 6 152163748 COREAD C T Nonsense p.R256* c.766C>T 6 152265313 PRAD C T Synonymous p.A312A c.936C>T 6 152265483 GBM C T Synonymous p.I358I c.1074C>T 6 152265621 CM C T Synonymous p.I510I c.1530C>T 6 152415680 CM G A IntronicSNV . c.1097-14964G>A 6 152317827 PIA G A Missense p.A13T c.37G>A 6 152129084 STAD G A Missense p.E247K c.739G>A 6 152201885 CM G A Missense p.G415R c.1243G>A 6 152382133 CM G A Nonsense p.W383* c.1148G>A 6 152332842 THCA G A Synonymous p.A551A c.1653G>A 6 152419966 NB G A Synonymous p.E133E c.399G>A 6 152129446 HNSC G A Synonymous p.K171K c.513G>A 6 152163792 LUSC G A Synonymous p.L410L c.1230G>A 6 152332924 CM G A Synonymous p.L440L c.1320G>A 6 152382210 UCEC G - Frameshift p.I326Yfs*17 c.975delG 6 152265522 LUSC GGAAAATGT - InFrameDeletion p.G415_C417delGKC c.1244_1252delGAAAATGTG 6 152382133 UCEC G T IntronicSNV . c.1236-15659G>T 6 152366467 CLL G T Missense p.A166S c.496G>T 6 152163775 GBM G T Missense p.G40V c.119G>T 6 152129166 LUSC G T Missense p.R394L c.1181G>T 6 152332875 COREAD G T Synonymous p.L428L c.1284G>T 6 152382174 RCCC G T Synonymous p.P295P c.885G>T 6 152265432 LUSC T A Missense p.Y537N c.1609T>A 6 152419922 UCEC TATTAT - InFrameDeletion p.I451_I452delII c.1351_1356delATTATT 6 152382240 BRCA T C Missense p.Y191H c.571T>C 6 152163850 UCEC TGG - InFrameDeletion p.V422delV c.1265_1267delTGG 6 152382152 UCEC