Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 7 95442532 95442532 + Nonsense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 g.chr7:95442532G>A c.248G>A c.(247-249)tGg>tAg p.W83* BLCA 7 95457372 95457372 + Silent SNP C C A TCGA-5N-A9KM-01A-11D-A42E-08 TCGA-5N-A9KM-10A-01D-A42H-08 g.chr7:95457372C>A c.369C>A c.(367-369)acC>acA p.T123T BLCA 7 95457395 95457395 + Missense_Mutation SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr7:95457395C>T c.392C>T c.(391-393)tCa>tTa p.S131L BLCA 7 95499296 95499296 + Missense_Mutation SNP C C T TCGA-FD-A3N6-01A-11D-A21A-08 TCGA-FD-A3N6-10A-01D-A21A-08 g.chr7:95499296C>T c.527C>T c.(526-528)aCg>aTg p.T176M BLCA 7 95662061 95662061 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr7:95662061C>T c.1250C>T c.(1249-1251)tCc>tTc p.S417F BLCA 7 95665003 95665003 + Missense_Mutation SNP G G A TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr7:95665003G>A c.1354G>A c.(1354-1356)Gtc>Atc p.V452I BRCA 7 95434081 95434081 + Frame_Shift_Del DEL A A - TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr7:95434081delA c.40delA c.(40-42)aaafs p.K15fs BRCA 7 95499217 95499217 + Missense_Mutation SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 g.chr7:95499217G>A c.448G>A c.(448-450)Gtg>Atg p.V150M BRCA 7 95657609 95657609 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr7:95657609A>C c.1143A>C c.(1141-1143)acA>acC p.T381T BRCA 7 95657618 95657618 + Silent SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr7:95657618A>C c.1152A>C c.(1150-1152)tcA>tcC p.S384S BRCA 7 95661999 95661999 + Missense_Mutation SNP T T A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 g.chr7:95661999T>A c.1188T>A c.(1186-1188)aaT>aaA p.N396K BRCA 7 95665026 95665026 + Silent SNP T T C TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr7:95665026T>C c.1377T>C c.(1375-1377)agT>agC p.S459S BRCA 7 95668673 95668673 + Missense_Mutation SNP C C A TCGA-AR-A1AI-01A-11D-A12Q-09 TCGA-AR-A1AI-10A-01D-A12Q-09 g.chr7:95668673C>A c.1500C>A c.(1498-1500)gaC>gaA p.D500E BRCA 7 95726876 95726876 + Missense_Mutation SNP G G A TCGA-AR-A0TU-01A-31D-A10G-09 TCGA-AR-A0TU-10A-01D-A10G-09 g.chr7:95726876G>A c.1909G>A c.(1909-1911)Gag>Aag p.E637K CESC 7 95442584 95442584 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr7:95442584G>T c.300G>T c.(298-300)tcG>tcT p.S100S CESC 7 95705393 95705393 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 g.chr7:95705393G>A c.1585G>A c.(1585-1587)Gaa>Aaa p.E529K COAD 7 95434091 95434091 + Missense_Mutation SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr7:95434091G>A c.50G>A c.(49-51)cGc>cAc p.R17H COAD 7 95439789 95439789 + Missense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:95439789G>T c.194G>T c.(193-195)aGc>aTc p.S65I COAD 7 95442514 95442514 + Missense_Mutation SNP C C T TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr7:95442514C>T c.230C>T c.(229-231)cCg>cTg p.P77L COAD 7 95442584 95442584 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:95442584G>A c.300G>A c.(298-300)tcG>tcA p.S100S COAD 7 95442613 95442613 + Missense_Mutation SNP G G A TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr7:95442613G>A c.329G>A c.(328-330)gGa>gAa p.G110E COAD 7 95442628 95442628 + Missense_Mutation SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr7:95442628G>A c.344G>A c.(343-345)gGc>gAc p.G115D COAD 7 95606854 95606854 + Missense_Mutation SNP C C A TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chr7:95606854C>A c.572C>A c.(571-573)tCt>tAt p.S191Y COAD 7 95616429 95616429 + Nonsense_Mutation SNP A A T TCGA-AA-3693-01A-01W-0900-09 TCGA-AA-3693-10A-01W-0900-09 g.chr7:95616429A>T c.856A>T c.(856-858)Aag>Tag p.K286* COAD 7 95625304 95625305 + Frame_Shift_Ins INS - - C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr7:95625304_95625305insC c.939_940insC c.(940-942)cccfs p.P314fs COAD 7 95657500 95657500 + Missense_Mutation SNP C C T TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr7:95657500C>T c.1034C>T c.(1033-1035)tCg>tTg p.S345L COAD 7 95657561 95657561 + Silent SNP T T A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr7:95657561T>A c.1095T>A c.(1093-1095)atT>atA p.I365I COAD 7 95657604 95657604 + Missense_Mutation SNP C C T TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr7:95657604C>T c.1138C>T c.(1138-1140)Cgg>Tgg p.R380W COAD 7 95668610 95668610 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:95668610C>A c.1437C>A c.(1435-1437)gtC>gtA p.V479V COAD 7 95668610 95668610 + Silent SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:95668610C>A c.1437C>A c.(1435-1437)gtC>gtA p.V479V COAD 7 95668610 95668610 + Silent SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:95668610C>A c.1437C>A c.(1435-1437)gtC>gtA p.V479V COAD 7 95705506 95705506 + Silent SNP C C A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr7:95705506C>A c.1698C>A c.(1696-1698)acC>acA p.T566T COAD 7 95705506 95705506 + Silent SNP C C A TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr7:95705506C>A c.1698C>A c.(1696-1698)acC>acA p.T566T COAD 7 95726873 95726873 + Missense_Mutation SNP G G A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr7:95726873G>A c.1906G>A c.(1906-1908)Gag>Aag p.E636K COAD 7 95726873 95726873 + Missense_Mutation SNP G G A TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr7:95726873G>A c.1906G>A c.(1906-1908)Gag>Aag p.E636K COADREAD 7 95434091 95434091 + Missense_Mutation SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr7:95434091G>A c.50G>A c.(49-51)cGc>cAc p.R17H COADREAD 7 95439789 95439789 + Missense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:95439789G>T c.194G>T c.(193-195)aGc>aTc p.S65I COADREAD 7 95442514 95442514 + Missense_Mutation SNP C C T TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr7:95442514C>T c.230C>T c.(229-231)cCg>cTg p.P77L COADREAD 7 95442584 95442584 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:95442584G>A c.300G>A c.(298-300)tcG>tcA p.S100S COADREAD 7 95442613 95442613 + Missense_Mutation SNP G G A TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr7:95442613G>A c.329G>A c.(328-330)gGa>gAa p.G110E COADREAD 7 95442628 95442628 + Missense_Mutation SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr7:95442628G>A c.344G>A c.(343-345)gGc>gAc p.G115D COADREAD 7 95606854 95606854 + Missense_Mutation SNP C C A TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chr7:95606854C>A c.572C>A c.(571-573)tCt>tAt p.S191Y COADREAD 7 95616429 95616429 + Nonsense_Mutation SNP A A T TCGA-AA-3693-01A-01W-0900-09 TCGA-AA-3693-10A-01W-0900-09 g.chr7:95616429A>T c.856A>T c.(856-858)Aag>Tag p.K286* COADREAD 7 95625304 95625305 + Frame_Shift_Ins INS - - C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr7:95625304_95625305insC c.939_940insC c.(940-942)cccfs p.P314fs COADREAD 7 95657500 95657500 + Missense_Mutation SNP C C T TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr7:95657500C>T c.1034C>T c.(1033-1035)tCg>tTg p.S345L COADREAD 7 95657515 95657515 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:95657515G>A c.1049G>A c.(1048-1050)cGt>cAt p.R350H COADREAD 7 95657561 95657561 + Silent SNP T T A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr7:95657561T>A c.1095T>A c.(1093-1095)atT>atA p.I365I COADREAD 7 95657604 95657604 + Missense_Mutation SNP C C T TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr7:95657604C>T c.1138C>T c.(1138-1140)Cgg>Tgg p.R380W COADREAD 7 95657632 95657632 + Splice_Site SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:95657632C>T c.1166C>T c.(1165-1167)aCg>aTg p.T389M COADREAD 7 95665000 95665000 + Missense_Mutation SNP G G C TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr7:95665000G>C c.1351G>C c.(1351-1353)Gac>Cac p.D451H COADREAD 7 95665046 95665046 + Missense_Mutation SNP C C T TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr7:95665046C>T c.1397C>T c.(1396-1398)aCg>aTg p.T466M COADREAD 7 95668610 95668610 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:95668610C>A c.1437C>A c.(1435-1437)gtC>gtA p.V479V COADREAD 7 95668610 95668610 + Silent SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:95668610C>A c.1437C>A c.(1435-1437)gtC>gtA p.V479V COADREAD 7 95668610 95668610 + Silent SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:95668610C>A c.1437C>A c.(1435-1437)gtC>gtA p.V479V COADREAD 7 95705506 95705506 + Silent SNP C C A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr7:95705506C>A c.1698C>A c.(1696-1698)acC>acA p.T566T COADREAD 7 95705506 95705506 + Silent SNP C C A TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr7:95705506C>A c.1698C>A c.(1696-1698)acC>acA p.T566T COADREAD 7 95726873 95726873 + Missense_Mutation SNP G G A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr7:95726873G>A c.1906G>A c.(1906-1908)Gag>Aag p.E636K COADREAD 7 95726873 95726873 + Missense_Mutation SNP G G A TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr7:95726873G>A c.1906G>A c.(1906-1908)Gag>Aag p.E636K DLBC 7 95442624 95442624 + Missense_Mutation SNP T T A TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr7:95442624T>A c.340T>A c.(340-342)Tca>Aca p.S114T ESCA 7 95457368 95457368 + Splice_Site SNP G G A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 g.chr7:95457368G>A c.e5-1 ESCA 7 95616416 95616416 + Silent SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr7:95616416T>C c.843T>C c.(841-843)gaT>gaC p.D281D ESCA 7 95625347 95625347 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 g.chr7:95625347T>G c.982T>G c.(982-984)Ttt>Gtt p.F328V ESCA 7 95705494 95705494 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr7:95705494C>T c.1686C>T c.(1684-1686)ctC>ctT p.L562L GBM 7 95442583 95442583 + Missense_Mutation SNP C C T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 g.chr7:95442583C>T c.299C>T c.(298-300)tCg>tTg p.S100L GBM 7 95457400 95457400 + Missense_Mutation SNP C C T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 g.chr7:95457400C>T c.397C>T c.(397-399)Ctc>Ttc p.L133F GBM 7 95499217 95499217 + Missense_Mutation SNP G G A TCGA-06-0185-01A-01W-0254-08 TCGA-06-0185-10B-01W-0254-08 g.chr7:95499217G>A c.448G>A c.(448-450)Gtg>Atg p.V150M GBM 7 95616403 95616403 + Missense_Mutation SNP G G A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 g.chr7:95616403G>A c.830G>A c.(829-831)cGt>cAt p.R277H GBM 7 95657586 95657586 + Nonsense_Mutation SNP C C T TCGA-06-0129-01A-01D-1490-08 TCGA-06-0129-10A-01D-1490-08 g.chr7:95657586C>T c.1120C>T c.(1120-1122)Cga>Tga p.R374* GBM 7 95664970 95664970 + Missense_Mutation SNP G G A TCGA-41-3392-01A-01D-1495-08 TCGA-41-3392-10A-01D-1495-08 g.chr7:95664970G>A c.1321G>A c.(1321-1323)Gct>Act p.A441T GBM 7 95665015 95665015 + Missense_Mutation SNP G G A TCGA-26-6174-01A-21D-1845-08 TCGA-26-6174-10A-01D-1845-08 g.chr7:95665015G>A c.1366G>A c.(1366-1368)Gtg>Atg p.V456M GBMLGG 7 95442583 95442583 + Missense_Mutation SNP C C T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 g.chr7:95442583C>T c.299C>T c.(298-300)tCg>tTg p.S100L GBMLGG 7 95457400 95457400 + Missense_Mutation SNP C C T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 g.chr7:95457400C>T c.397C>T c.(397-399)Ctc>Ttc p.L133F GBMLGG 7 95499217 95499217 + Missense_Mutation SNP G G A TCGA-06-0185-01A-01W-0254-08 TCGA-06-0185-10B-01W-0254-08 g.chr7:95499217G>A c.448G>A c.(448-450)Gtg>Atg p.V150M GBMLGG 7 95616403 95616403 + Missense_Mutation SNP G G A TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 g.chr7:95616403G>A c.830G>A c.(829-831)cGt>cAt p.R277H GBMLGG 7 95657551 95657551 + Missense_Mutation SNP C C T TCGA-HT-7476-01A-11D-2024-08 TCGA-HT-7476-10A-01D-2024-08 g.chr7:95657551C>T c.1085C>T c.(1084-1086)tCg>tTg p.S362L GBMLGG 7 95657586 95657586 + Nonsense_Mutation SNP C C T TCGA-06-0129-01A-01D-1490-08 TCGA-06-0129-10A-01D-1490-08 g.chr7:95657586C>T c.1120C>T c.(1120-1122)Cga>Tga p.R374* GBMLGG 7 95657632 95657632 + Splice_Site SNP C C T TCGA-CS-6186-01A-12D-2024-08 TCGA-CS-6186-10A-01D-2024-08 g.chr7:95657632C>T c.1166C>T c.(1165-1167)aCg>aTg p.T389M GBMLGG 7 95664970 95664970 + Missense_Mutation SNP G G A TCGA-41-3392-01A-01D-1495-08 TCGA-41-3392-10A-01D-1495-08 g.chr7:95664970G>A c.1321G>A c.(1321-1323)Gct>Act p.A441T GBMLGG 7 95665015 95665015 + Missense_Mutation SNP G G A TCGA-26-6174-01A-21D-1845-08 TCGA-26-6174-10A-01D-1845-08 g.chr7:95665015G>A c.1366G>A c.(1366-1368)Gtg>Atg p.V456M GBMLGG 7 95665036 95665036 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:95665036A>G c.1387A>G c.(1387-1389)Aca>Gca p.T463A HNSC 7 95434085 95434085 + Missense_Mutation SNP A A G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr7:95434085A>G c.44A>G c.(43-45)aAg>aGg p.K15R HNSC 7 95439771 95439771 + Missense_Mutation SNP C C G TCGA-CV-7432-01A-11D-2129-08 TCGA-CV-7432-10A-01D-2129-08 g.chr7:95439771C>G c.176C>G c.(175-177)aCa>aGa p.T59R HNSC 7 95457426 95457426 + Silent SNP T T C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 g.chr7:95457426T>C c.423T>C c.(421-423)ctT>ctC p.L141L HNSC 7 95606909 95606909 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr7:95606909G>A c.627G>A c.(625-627)aaG>aaA p.K209K HNSC 7 95614203 95614203 + Silent SNP G G T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 g.chr7:95614203G>T c.708G>T c.(706-708)cgG>cgT p.R236R HNSC 7 95664996 95664996 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 g.chr7:95664996G>A c.1347G>A c.(1345-1347)acG>acA p.T449T HNSC 7 95668588 95668588 + Splice_Site SNP G G T TCGA-CV-7245-01A-11D-2012-08 TCGA-CV-7245-10A-01D-2013-08 g.chr7:95668588G>T c.e14-1 HNSC 7 95705417 95705417 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 g.chr7:95705417G>A c.1609G>A c.(1609-1611)Gat>Aat p.D537N HNSC 7 95726843 95726843 + Missense_Mutation SNP G G C TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 g.chr7:95726843G>C c.1876G>C c.(1876-1878)Gtg>Ctg p.V626L KICH 7 95668630 95668630 + Missense_Mutation SNP C C A TCGA-KO-8415-01A-11D-2310-10 TCGA-KO-8415-11A-01D-2311-10 g.chr7:95668630C>A c.1457C>A c.(1456-1458)cCa>cAa p.P486Q KIPAN 7 95439731 95439731 + Missense_Mutation SNP G G A TCGA-5P-A9JV-01A-12D-A42J-10 TCGA-5P-A9JV-10A-01D-A42M-10 g.chr7:95439731G>A c.136G>A c.(136-138)Gtt>Att p.V46I KIPAN 7 95668630 95668630 + Missense_Mutation SNP C C A TCGA-KO-8415-01A-11D-2310-10 TCGA-KO-8415-11A-01D-2311-10 g.chr7:95668630C>A c.1457C>A c.(1456-1458)cCa>cAa p.P486Q KIPAN 7 95668656 95668656 + Missense_Mutation SNP G G T TCGA-G7-A8LB-01A-11D-A35Z-10 TCGA-G7-A8LB-10A-01D-A35Z-10 g.chr7:95668656G>T c.1483G>T c.(1483-1485)Gca>Tca p.A495S KIPAN 7 95668696 95668696 + Missense_Mutation SNP C C T TCGA-B9-5155-01A-01D-1589-08 TCGA-B9-5155-10A-01D-1589-08 g.chr7:95668696C>T c.1523C>T c.(1522-1524)tCa>tTa p.S508L KIRP 7 95439731 95439731 + Missense_Mutation SNP G G A TCGA-5P-A9JV-01A-12D-A42J-10 TCGA-5P-A9JV-10A-01D-A42M-10 g.chr7:95439731G>A c.136G>A c.(136-138)Gtt>Att p.V46I KIRP 7 95668656 95668656 + Missense_Mutation SNP G G T TCGA-G7-A8LB-01A-11D-A35Z-10 TCGA-G7-A8LB-10A-01D-A35Z-10 g.chr7:95668656G>T c.1483G>T c.(1483-1485)Gca>Tca p.A495S KIRP 7 95668696 95668696 + Missense_Mutation SNP C C T TCGA-B9-5155-01A-01D-1589-08 TCGA-B9-5155-10A-01D-1589-08 g.chr7:95668696C>T c.1523C>T c.(1522-1524)tCa>tTa p.S508L LGG 7 95657551 95657551 + Missense_Mutation SNP C C T TCGA-HT-7476-01A-11D-2024-08 TCGA-HT-7476-10A-01D-2024-08 g.chr7:95657551C>T c.1085C>T c.(1084-1086)tCg>tTg p.S362L LGG 7 95657632 95657632 + Splice_Site SNP C C T TCGA-CS-6186-01A-12D-2024-08 TCGA-CS-6186-10A-01D-2024-08 g.chr7:95657632C>T c.1166C>T c.(1165-1167)aCg>aTg p.T389M LGG 7 95665036 95665036 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:95665036A>G c.1387A>G c.(1387-1389)Aca>Gca p.T463A LIHC 7 95442633 95442633 + Missense_Mutation SNP C C A TCGA-ED-A97K-01A-21D-A382-10 TCGA-ED-A97K-10A-01D-A385-10 g.chr7:95442633C>A c.349C>A c.(349-351)Ctg>Atg p.L117M LIHC 7 95614244 95614244 + Missense_Mutation SNP A A G TCGA-DD-A3A9-01A-11D-A25V-10 TCGA-DD-A3A9-11A-11D-A25V-10 g.chr7:95614244A>G c.749A>G c.(748-750)gAc>gGc p.D250G LIHC 7 95665003 95665003 + Missense_Mutation SNP G G A TCGA-2Y-A9H0-01A-11D-A382-10 TCGA-2Y-A9H0-10A-01D-A385-10 g.chr7:95665003G>A c.1354G>A c.(1354-1356)Gtc>Atc p.V452I LIHC 7 95705439 95705439 + Missense_Mutation SNP A A G TCGA-CC-A7IL-01A-11D-A33Q-10 TCGA-CC-A7IL-10A-01D-A33Q-10 g.chr7:95705439A>G c.1631A>G c.(1630-1632)cAt>cGt p.H544R LUAD 7 95439773 95439773 + Missense_Mutation SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 g.chr7:95439773G>A c.178G>A c.(178-180)Gag>Aag p.E60K LUAD 7 95439799 95439799 + Missense_Mutation SNP C C G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 g.chr7:95439799C>G c.204C>G c.(202-204)atC>atG p.I68M LUAD 7 95442509 95442509 + Splice_Site SNP G G T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr7:95442509G>T c.225G>T c.(223-225)gtG>gtT p.V75V LUAD 7 95442597 95442597 + Missense_Mutation SNP A A C TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr7:95442597A>C c.313A>C c.(313-315)Act>Cct p.T105P LUAD 7 95442627 95442627 + Missense_Mutation SNP G G T TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr7:95442627G>T c.343G>T c.(343-345)Ggc>Tgc p.G115C LUAD 7 95457399 95457399 + Silent SNP G G T TCGA-55-8510-01A-11D-2393-08 TCGA-55-8510-10A-01D-2393-08 g.chr7:95457399G>T c.396G>T c.(394-396)gtG>gtT p.V132V LUAD 7 95457405 95457405 + Missense_Mutation SNP G G T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr7:95457405G>T c.402G>T c.(400-402)caG>caT p.Q134H LUAD 7 95499231 95499231 + Silent SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 g.chr7:95499231C>T c.462C>T c.(460-462)acC>acT p.T154T LUAD 7 95499293 95499293 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 g.chr7:95499293C>A c.524C>A c.(523-525)gCc>gAc p.A175D LUAD 7 95499298 95499298 + Missense_Mutation SNP C C T TCGA-97-A4M7-01A-11D-A24P-08 TCGA-97-A4M7-10A-01D-A24P-08 g.chr7:95499298C>T c.529C>T c.(529-531)Cat>Tat p.H177Y LUAD 7 95614126 95614126 + Splice_Site SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 g.chr7:95614126G>T c.e8-1 LUAD 7 95614143 95614143 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 g.chr7:95614143G>C c.648G>C c.(646-648)ttG>ttC p.L216F LUAD 7 95616384 95616384 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 g.chr7:95616384G>T c.811G>T c.(811-813)Gcc>Tcc p.A271S LUAD 7 95616453 95616453 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 g.chr7:95616453G>T c.880G>T c.(880-882)Gac>Tac p.D294Y LUAD 7 95625311 95625311 + Nonsense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 g.chr7:95625311G>T c.946G>T c.(946-948)Gaa>Taa p.E316* LUAD 7 95657491 95657491 + Missense_Mutation SNP C C A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr7:95657491C>A c.1025C>A c.(1024-1026)tCt>tAt p.S342Y LUAD 7 95657570 95657570 + Missense_Mutation SNP G G T TCGA-17-Z028-01A-01W-0746-08 TCGA-17-Z028-11A-01W-0746-08 g.chr7:95657570G>T c.1104G>T c.(1102-1104)tgG>tgT p.W368C LUAD 7 95657604 95657604 + Missense_Mutation SNP C C G TCGA-44-6776-01A-11D-1855-08 TCGA-44-6776-10A-01D-1855-08 g.chr7:95657604C>G c.1138C>G c.(1138-1140)Cgg>Ggg p.R380G LUAD 7 95662047 95662047 + Silent SNP T T C TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr7:95662047T>C c.1236T>C c.(1234-1236)gaT>gaC p.D412D LUAD 7 95662065 95662065 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 g.chr7:95662065G>T c.1254G>T c.(1252-1254)tgG>tgT p.W418C LUAD 7 95662087 95662087 + Missense_Mutation SNP C C T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr7:95662087C>T c.1276C>T c.(1276-1278)Cca>Tca p.P426S LUAD 7 95664931 95664931 + Splice_Site SNP G G C TCGA-55-8299-01A-11D-2284-08 TCGA-55-8299-10B-01D-2323-08 g.chr7:95664931G>C c.1282G>C c.(1282-1284)Gag>Cag p.E428Q LUAD 7 95665003 95665003 + Missense_Mutation SNP G G A TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 g.chr7:95665003G>A c.1354G>A c.(1354-1356)Gtc>Atc p.V452I LUAD 7 95665044 95665044 + Silent SNP C C T TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 g.chr7:95665044C>T c.1395C>T c.(1393-1395)taC>taT p.Y465Y LUAD 7 95668715 95668715 + Silent SNP C C G TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr7:95668715C>G c.1542C>G c.(1540-1542)gtC>gtG p.V514V LUAD 7 95726812 95726812 + Silent SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 g.chr7:95726812T>C c.1845T>C c.(1843-1845)aaT>aaC p.N615N LUAD 7 95726882 95726882 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr7:95726882G>T c.1915G>T c.(1915-1917)Ggc>Tgc p.G639C LUSC 7 95442571 95442571 + Missense_Mutation SNP T T C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 g.chr7:95442571T>C c.287T>C c.(286-288)aTg>aCg p.M96T LUSC 7 95499246 95499246 + Silent SNP G G T TCGA-21-5784-01A-01D-1632-08 TCGA-21-5784-10A-01D-1632-08 g.chr7:95499246G>T c.477G>T c.(475-477)ctG>ctT p.L159L LUSC 7 95499272 95499272 + Missense_Mutation SNP A A G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr7:95499272A>G c.503A>G c.(502-504)aAg>aGg p.K168R LUSC 7 95606829 95606829 + Nonsense_Mutation SNP G G T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr7:95606829G>T c.547G>T c.(547-549)Gag>Tag p.E183* LUSC 7 95614265 95614265 + Missense_Mutation SNP G G T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 g.chr7:95614265G>T c.770G>T c.(769-771)gGc>gTc p.G257V LUSC 7 95616462 95616462 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr7:95616462C>T c.889C>T c.(889-891)Ctc>Ttc p.L297F LUSC 7 95657515 95657515 + Missense_Mutation SNP G G A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 g.chr7:95657515G>A c.1049G>A c.(1048-1050)cGt>cAt p.R350H LUSC 7 95665060 95665060 + Missense_Mutation SNP G G A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 g.chr7:95665060G>A c.1411G>A c.(1411-1413)Gga>Aga p.G471R LUSC 7 95709710 95709710 + Silent SNP C C A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 g.chr7:95709710C>A c.1737C>A c.(1735-1737)tcC>tcA p.S579S OV 7 95442612 95442612 + Nonsense_Mutation SNP G G T TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 g.chr7:95442612G>T c.328G>T c.(328-330)Gga>Tga p.G110* OV 7 95442627 95442627 + Missense_Mutation SNP G G A TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 g.chr7:95442627G>A c.343G>A c.(343-345)Ggc>Agc p.G115S OV 7 95705504 95705504 + Missense_Mutation SNP A A C TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 g.chr7:95705504A>C c.1696A>C c.(1696-1698)Acc>Ccc p.T566P OV 7 95726831 95726831 + Missense_Mutation SNP G G T TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 g.chr7:95726831G>T c.1864G>T c.(1864-1866)Gcc>Tcc p.A622S PAAD 7 95442629 95442629 + Silent SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 g.chr7:95442629C>T c.345C>T c.(343-345)ggC>ggT p.G115G PAAD 7 95614201 95614201 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr7:95614201C>A c.706C>A c.(706-708)Cgg>Agg p.R236R PAAD 7 95614249 95614249 + Frame_Shift_Del DEL T T - TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 g.chr7:95614249delT c.754delT c.(754-756)tttfs p.F253fs PAAD 7 95657489 95657489 + Silent SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:95657489C>A c.1023C>A c.(1021-1023)tcC>tcA p.S341S PAAD 7 95665004 95665004 + Missense_Mutation SNP T T A TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 g.chr7:95665004T>A c.1355T>A c.(1354-1356)gTc>gAc p.V452D PRAD 7 95616435 95616435 + Missense_Mutation SNP C C G TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 g.chr7:95616435C>G c.862C>G c.(862-864)Cga>Gga p.R288G PRAD 7 95705442 95705442 + Missense_Mutation SNP C C A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr7:95705442C>A c.1634C>A c.(1633-1635)cCt>cAt p.P545H PRAD 7 95705500 95705500 + Silent SNP T T C TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 g.chr7:95705500T>C c.1692T>C c.(1690-1692)aaT>aaC p.N564N READ 7 95657515 95657515 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:95657515G>A c.1049G>A c.(1048-1050)cGt>cAt p.R350H READ 7 95657632 95657632 + Splice_Site SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:95657632C>T c.1166C>T c.(1165-1167)aCg>aTg p.T389M READ 7 95665000 95665000 + Missense_Mutation SNP G G C TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr7:95665000G>C c.1351G>C c.(1351-1353)Gac>Cac p.D451H READ 7 95665046 95665046 + Missense_Mutation SNP C C T TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr7:95665046C>T c.1397C>T c.(1396-1398)aCg>aTg p.T466M SARC 7 95625320 95625320 + Missense_Mutation SNP G G C TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 g.chr7:95625320G>C c.955G>C c.(955-957)Gga>Cga p.G319R SARC 7 95657551 95657551 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr7:95657551C>T c.1085C>T c.(1084-1086)tCg>tTg p.S362L SKCM 7 95442563 95442563 + Silent SNP A A T TCGA-ER-A19M-06A-61D-A23B-08 TCGA-ER-A19M-10A-01D-A23B-08 g.chr7:95442563A>T c.279A>T c.(277-279)ccA>ccT p.P93P SKCM 7 95442568 95442568 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr7:95442568C>T c.284C>T c.(283-285)cCt>cTt p.P95L SKCM 7 95442576 95442576 + Missense_Mutation SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr7:95442576C>T c.292C>T c.(292-294)Ccc>Tcc p.P98S SKCM 7 95499310 95499310 + Splice_Site SNP G G A TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr7:95499310G>A c.541G>A c.(541-543)Gag>Aag p.E181K SKCM 7 95606832 95606832 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:95606832G>A c.550G>A c.(550-552)Gaa>Aaa p.E184K SKCM 7 95606880 95606880 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:95606880G>A c.598G>A c.(598-600)Gaa>Aaa p.E200K SKCM 7 95606905 95606905 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr7:95606905T>G c.623T>G c.(622-624)gTg>gGg p.V208G SKCM 7 95614188 95614188 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr7:95614188C>T c.693C>T c.(691-693)ctC>ctT p.L231L SKCM 7 95664990 95664990 + Silent SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr7:95664990C>T c.1341C>T c.(1339-1341)ttC>ttT p.F447F SKCM 7 95705405 95705405 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr7:95705405G>A c.1597G>A c.(1597-1599)Gac>Aac p.D533N SKCM 7 95709713 95709713 + Silent SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr7:95709713C>T c.1740C>T c.(1738-1740)gcC>gcT p.A580A SKCM 7 95709754 95709754 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr7:95709754C>T c.1781C>T c.(1780-1782)gCt>gTt p.A594V SKCM 7 95726821 95726821 + Nonsense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr7:95726821G>A c.1854G>A c.(1852-1854)tgG>tgA p.W618*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 7 95439755 95439755 single base substitution C T missense_variant R54C 160C>T BLCA-US 7 95442532 95442532 single base substitution G A intron_variant BLCA-US 7 95442532 95442532 single base substitution G A stop_gained W83* 248G>A BOCA-FR 7 95409955 95409955 single base substitution G A intron_variant BOCA-FR 7 95454285 95454285 single base substitution G A intron_variant BOCA-FR 7 95542471 95542471 single base substitution C T intron_variant BOCA-FR 7 95546017 95546017 single base substitution T C intron_variant BOCA-FR 7 95579689 95579689 single base substitution G A intron_variant BOCA-FR 7 95605806 95605806 single base substitution A G intron_variant BRCA-EU 7 95396894 95396894 single base substitution G T upstream_gene_variant BRCA-EU 7 95400157 95400157 single base substitution A G upstream_gene_variant BRCA-EU 7 95400602 95400602 single base substitution C G upstream_gene_variant BRCA-EU 7 95400900 95400900 single base substitution T G upstream_gene_variant BRCA-EU 7 95400927 95400927 single base substitution A T upstream_gene_variant BRCA-EU 7 95402162 95402162 single base substitution C T intron_variant BRCA-EU 7 95402971 95402971 single base substitution G C intron_variant BRCA-EU 7 95403354 95403354 single base substitution T C intron_variant BRCA-EU 7 95403740 95403740 single base substitution C A intron_variant BRCA-EU 7 95404064 95404064 single base substitution C G intron_variant BRCA-EU 7 95404092 95404092 single base substitution A G intron_variant BRCA-EU 7 95404564 95404564 single base substitution C T intron_variant BRCA-EU 7 95406046 95406046 single base substitution A G intron_variant BRCA-EU 7 95406674 95406674 single base substitution C G intron_variant BRCA-EU 7 95407388 95407388 single base substitution G C intron_variant BRCA-EU 7 95407540 95407540 single base substitution G T intron_variant BRCA-EU 7 95408163 95408163 single base substitution G C intron_variant BRCA-EU 7 95408562 95408562 insertion of <=200bp - T intron_variant BRCA-EU 7 95408596 95408596 single base substitution C A intron_variant BRCA-EU 7 95409584 95409584 single base substitution C T intron_variant BRCA-EU 7 95409595 95409595 single base substitution T C intron_variant BRCA-EU 7 95410321 95410321 single base substitution A C intron_variant BRCA-EU 7 95411184 95411184 single base substitution A G intron_variant BRCA-EU 7 95412360 95412360 single base substitution G T intron_variant BRCA-EU 7 95412601 95412601 single base substitution A G intron_variant BRCA-EU 7 95412655 95412655 single base substitution C G intron_variant BRCA-EU 7 95413116 95413116 single base substitution T A intron_variant BRCA-EU 7 95414119 95414119 single base substitution A G intron_variant BRCA-EU 7 95415401 95415401 single base substitution T A intron_variant BRCA-EU 7 95416321 95416321 single base substitution A C intron_variant BRCA-EU 7 95417441 95417441 single base substitution A G intron_variant BRCA-EU 7 95418491 95418491 single base substitution G C intron_variant BRCA-EU 7 95420130 95420130 single base substitution C T intron_variant BRCA-EU 7 95420654 95420654 single base substitution T C intron_variant BRCA-EU 7 95420666 95420666 single base substitution G C intron_variant BRCA-EU 7 95422268 95422268 single base substitution G A intron_variant BRCA-EU 7 95423664 95423664 single base substitution G C intron_variant BRCA-EU 7 95423836 95423836 single base substitution C T intron_variant BRCA-EU 7 95424039 95424039 single base substitution C G intron_variant BRCA-EU 7 95424247 95424247 single base substitution A G intron_variant BRCA-EU 7 95425263 95425263 single base substitution C G intron_variant BRCA-EU 7 95425361 95425361 deletion of <=200bp A - intron_variant BRCA-EU 7 95425684 95425684 single base substitution C T intron_variant BRCA-EU 7 95426461 95426461 single base substitution A T intron_variant BRCA-EU 7 95426793 95426793 single base substitution C G intron_variant BRCA-EU 7 95427038 95427038 single base substitution T G intron_variant BRCA-EU 7 95427258 95427258 deletion of <=200bp T - intron_variant BRCA-EU 7 95427258 95427258 insertion of <=200bp - T intron_variant BRCA-EU 7 95427267 95427267 deletion of <=200bp G - intron_variant BRCA-EU 7 95427644 95427644 deletion of <=200bp T - intron_variant BRCA-EU 7 95428399 95428399 single base substitution C G intron_variant BRCA-EU 7 95428905 95428905 insertion of <=200bp - T intron_variant BRCA-EU 7 95428905 95428905 insertion of <=200bp - T upstream_gene_variant BRCA-EU 7 95431001 95431001 single base substitution A G intron_variant BRCA-EU 7 95431001 95431001 single base substitution A G upstream_gene_variant BRCA-EU 7 95431649 95431649 single base substitution G C intron_variant BRCA-EU 7 95431649 95431649 single base substitution G C upstream_gene_variant BRCA-EU 7 95432886 95432886 single base substitution G T intron_variant BRCA-EU 7 95432886 95432886 single base substitution G T upstream_gene_variant BRCA-EU 7 95434011 95434011 deletion of <=200bp T - intron_variant BRCA-EU 7 95434919 95434919 single base substitution G T intron_variant BRCA-EU 7 95434988 95434988 single base substitution C T intron_variant BRCA-EU 7 95436584 95436584 single base substitution T C intron_variant BRCA-EU 7 95436964 95436964 single base substitution C A intron_variant BRCA-EU 7 95437631 95437631 deletion of <=200bp T - intron_variant BRCA-EU 7 95437697 95437697 single base substitution T G intron_variant BRCA-EU 7 95438562 95438562 single base substitution A G intron_variant BRCA-EU 7 95438935 95438935 single base substitution T C intron_variant BRCA-EU 7 95439086 95439086 single base substitution C G intron_variant BRCA-EU 7 95439343 95439343 single base substitution C A intron_variant BRCA-EU 7 95439696 95439696 single base substitution A G splice_region_variant BRCA-EU 7 95441375 95441375 single base substitution C T intron_variant BRCA-EU 7 95441508 95441508 single base substitution C T intron_variant BRCA-EU 7 95444768 95444768 single base substitution G A downstream_gene_variant BRCA-EU 7 95444768 95444768 single base substitution G A intron_variant BRCA-EU 7 95445686 95445686 single base substitution G C downstream_gene_variant BRCA-EU 7 95445686 95445686 single base substitution G C intron_variant BRCA-EU 7 95447295 95447295 single base substitution A T downstream_gene_variant BRCA-EU 7 95447295 95447295 single base substitution A T intron_variant BRCA-EU 7 95447698 95447698 single base substitution C T intron_variant BRCA-EU 7 95448383 95448383 single base substitution C T downstream_gene_variant BRCA-EU 7 95448383 95448383 single base substitution C T intron_variant BRCA-EU 7 95448667 95448667 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 95448667 95448667 deletion of <=200bp T - intron_variant BRCA-EU 7 95449615 95449615 single base substitution C G downstream_gene_variant BRCA-EU 7 95449615 95449615 single base substitution C G intron_variant BRCA-EU 7 95449912 95449912 single base substitution A C downstream_gene_variant BRCA-EU 7 95449912 95449912 single base substitution A C intron_variant BRCA-EU 7 95454496 95454496 single base substitution C T intron_variant BRCA-EU 7 95454615 95454615 single base substitution C T intron_variant BRCA-EU 7 95454711 95454711 single base substitution C T intron_variant BRCA-EU 7 95454853 95454853 single base substitution G C intron_variant BRCA-EU 7 95455516 95455516 single base substitution G A intron_variant BRCA-EU 7 95455666 95455666 single base substitution C T intron_variant BRCA-EU 7 95457419 95457419 single base substitution C G intron_variant BRCA-EU 7 95457419 95457419 single base substitution C G stop_gained S122* 365C>G BRCA-EU 7 95457419 95457419 single base substitution C G stop_gained S139* 416C>G BRCA-EU 7 95457844 95457848 deletion of <=200bp CTTTT - downstream_gene_variant BRCA-EU 7 95457844 95457848 deletion of <=200bp CTTTT - intron_variant BRCA-EU 7 95458141 95458141 single base substitution C A downstream_gene_variant BRCA-EU 7 95458141 95458141 single base substitution C A intron_variant BRCA-EU 7 95458464 95458464 single base substitution T G downstream_gene_variant BRCA-EU 7 95458464 95458464 single base substitution T G intron_variant BRCA-EU 7 95458882 95458882 single base substitution C A downstream_gene_variant BRCA-EU 7 95458882 95458882 single base substitution C A intron_variant BRCA-EU 7 95458980 95458980 single base substitution T A downstream_gene_variant BRCA-EU 7 95458980 95458980 single base substitution T A intron_variant BRCA-EU 7 95459328 95459328 single base substitution G C downstream_gene_variant BRCA-EU 7 95459328 95459328 single base substitution G C intron_variant BRCA-EU 7 95460650 95460650 single base substitution C T downstream_gene_variant BRCA-EU 7 95460650 95460650 single base substitution C T intron_variant BRCA-EU 7 95460715 95460715 single base substitution C G downstream_gene_variant BRCA-EU 7 95460715 95460715 single base substitution C G intron_variant BRCA-EU 7 95461011 95461011 single base substitution G A downstream_gene_variant BRCA-EU 7 95461011 95461011 single base substitution G A intron_variant BRCA-EU 7 95461281 95461281 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 95461281 95461281 deletion of <=200bp T - intron_variant BRCA-EU 7 95461498 95461498 single base substitution T A downstream_gene_variant BRCA-EU 7 95461498 95461498 single base substitution T A intron_variant BRCA-EU 7 95464174 95464174 single base substitution T C intron_variant BRCA-EU 7 95464174 95464174 single base substitution T C upstream_gene_variant BRCA-EU 7 95466675 95466675 single base substitution C G intron_variant BRCA-EU 7 95466675 95466675 single base substitution C G upstream_gene_variant BRCA-EU 7 95467254 95467254 single base substitution G A intron_variant BRCA-EU 7 95467431 95467431 single base substitution G A intron_variant BRCA-EU 7 95468409 95468409 single base substitution C G intron_variant BRCA-EU 7 95469046 95469046 deletion of <=200bp T - intron_variant BRCA-EU 7 95470052 95470052 single base substitution T C intron_variant BRCA-EU 7 95470829 95470829 single base substitution G A intron_variant BRCA-EU 7 95471255 95471255 single base substitution C T intron_variant BRCA-EU 7 95472949 95472949 single base substitution G A intron_variant BRCA-EU 7 95473382 95473382 single base substitution G A intron_variant BRCA-EU 7 95473594 95473594 single base substitution T G intron_variant BRCA-EU 7 95473727 95473727 single base substitution T C intron_variant BRCA-EU 7 95474626 95474626 single base substitution A G intron_variant BRCA-EU 7 95474816 95474816 single base substitution A G intron_variant BRCA-EU 7 95475710 95475710 single base substitution G C intron_variant BRCA-EU 7 95476716 95476716 single base substitution G T intron_variant BRCA-EU 7 95476965 95476965 single base substitution C T intron_variant BRCA-EU 7 95477040 95477040 single base substitution C G intron_variant BRCA-EU 7 95477763 95477763 deletion of <=200bp T - intron_variant BRCA-EU 7 95479988 95479988 single base substitution G A intron_variant BRCA-EU 7 95479992 95479992 single base substitution A G intron_variant BRCA-EU 7 95480290 95480290 single base substitution C G intron_variant BRCA-EU 7 95480838 95480838 single base substitution G A intron_variant BRCA-EU 7 95480986 95480986 deletion of <=200bp T - intron_variant BRCA-EU 7 95482457 95482457 deletion of <=200bp T - intron_variant BRCA-EU 7 95483330 95483330 single base substitution C G intron_variant BRCA-EU 7 95483692 95483692 single base substitution G A intron_variant BRCA-EU 7 95484182 95484182 single base substitution T A intron_variant BRCA-EU 7 95485427 95485427 deletion of <=200bp T - intron_variant BRCA-EU 7 95485726 95485726 single base substitution G A intron_variant BRCA-EU 7 95485994 95485994 single base substitution G A intron_variant BRCA-EU 7 95486491 95486491 single base substitution A G intron_variant BRCA-EU 7 95486738 95486738 single base substitution A C intron_variant BRCA-EU 7 95490026 95490026 single base substitution A G intron_variant BRCA-EU 7 95490229 95490229 single base substitution C A intron_variant BRCA-EU 7 95490289 95490289 single base substitution A G intron_variant BRCA-EU 7 95491317 95491317 single base substitution A G intron_variant BRCA-EU 7 95492504 95492504 single base substitution G C intron_variant BRCA-EU 7 95493185 95493185 single base substitution T A intron_variant BRCA-EU 7 95493578 95493578 single base substitution C G intron_variant BRCA-EU 7 95493738 95493738 insertion of <=200bp - T intron_variant BRCA-EU 7 95493951 95493951 single base substitution G C intron_variant BRCA-EU 7 95494397 95494397 single base substitution C A intron_variant BRCA-EU 7 95494803 95494803 single base substitution C G intron_variant BRCA-EU 7 95495092 95495092 single base substitution A T intron_variant BRCA-EU 7 95495134 95495134 single base substitution G A intron_variant BRCA-EU 7 95496448 95496448 single base substitution C T intron_variant BRCA-EU 7 95496494 95496494 single base substitution C T intron_variant BRCA-EU 7 95497445 95497445 single base substitution C T intron_variant BRCA-EU 7 95497686 95497686 single base substitution G A intron_variant BRCA-EU 7 95498078 95498078 single base substitution A T intron_variant BRCA-EU 7 95498462 95498462 single base substitution A T intron_variant BRCA-EU 7 95499037 95499037 single base substitution T A intron_variant BRCA-EU 7 95501626 95501626 single base substitution A G intron_variant BRCA-EU 7 95501630 95501630 single base substitution C T intron_variant BRCA-EU 7 95501749 95501749 single base substitution T C intron_variant BRCA-EU 7 95502290 95502290 single base substitution G T intron_variant BRCA-EU 7 95503112 95503112 single base substitution G A intron_variant BRCA-EU 7 95503270 95503270 insertion of <=200bp - T intron_variant BRCA-EU 7 95504123 95504123 single base substitution T G intron_variant BRCA-EU 7 95505293 95505293 single base substitution C T intron_variant BRCA-EU 7 95505358 95505358 single base substitution C G intron_variant BRCA-EU 7 95505856 95505856 insertion of <=200bp - C intron_variant BRCA-EU 7 95506255 95506255 deletion of <=200bp A - intron_variant BRCA-EU 7 95506637 95506637 single base substitution T G intron_variant BRCA-EU 7 95507831 95507831 single base substitution G T intron_variant BRCA-EU 7 95507904 95507904 single base substitution T C intron_variant BRCA-EU 7 95508847 95508847 single base substitution A T intron_variant BRCA-EU 7 95510383 95510383 single base substitution A G intron_variant BRCA-EU 7 95511333 95511333 deletion of <=200bp T - intron_variant BRCA-EU 7 95511474 95511474 single base substitution C G intron_variant BRCA-EU 7 95511613 95511613 single base substitution C A intron_variant BRCA-EU 7 95511993 95511993 insertion of <=200bp - T intron_variant BRCA-EU 7 95514720 95514720 single base substitution C G intron_variant BRCA-EU 7 95514765 95514765 single base substitution A C intron_variant BRCA-EU 7 95514974 95514974 deletion of <=200bp T - intron_variant BRCA-EU 7 95515146 95515146 single base substitution C G intron_variant BRCA-EU 7 95515218 95515218 insertion of <=200bp - T intron_variant BRCA-EU 7 95515408 95515408 single base substitution C T intron_variant BRCA-EU 7 95515843 95515843 single base substitution A C intron_variant BRCA-EU 7 95516405 95516405 single base substitution C T intron_variant BRCA-EU 7 95516760 95516760 single base substitution T A intron_variant BRCA-EU 7 95517820 95517820 single base substitution C G intron_variant BRCA-EU 7 95517972 95517972 single base substitution G C intron_variant BRCA-EU 7 95518768 95518768 single base substitution G C intron_variant BRCA-EU 7 95519056 95519058 deletion of <=200bp ACA - intron_variant BRCA-EU 7 95519363 95519363 single base substitution C T intron_variant BRCA-EU 7 95519932 95519932 single base substitution T A intron_variant BRCA-EU 7 95520680 95520680 single base substitution G A intron_variant BRCA-EU 7 95521250 95521250 single base substitution T C intron_variant BRCA-EU 7 95521780 95521780 single base substitution G A intron_variant BRCA-EU 7 95522133 95522133 single base substitution C G intron_variant BRCA-EU 7 95522897 95522897 single base substitution G T intron_variant BRCA-EU 7 95523169 95523169 single base substitution G A intron_variant BRCA-EU 7 95523726 95523726 single base substitution T C intron_variant BRCA-EU 7 95524253 95524253 single base substitution G C intron_variant BRCA-EU 7 95526200 95526200 single base substitution A C intron_variant BRCA-EU 7 95526738 95526738 single base substitution C T intron_variant BRCA-EU 7 95528246 95528246 single base substitution A T intron_variant BRCA-EU 7 95528808 95528808 single base substitution C T intron_variant BRCA-EU 7 95531006 95531006 deletion of <=200bp T - intron_variant BRCA-EU 7 95531165 95531165 single base substitution A T intron_variant BRCA-EU 7 95531472 95531472 deletion of <=200bp A - intron_variant BRCA-EU 7 95531907 95531907 single base substitution C G intron_variant BRCA-EU 7 95532637 95532637 single base substitution T C intron_variant BRCA-EU 7 95532907 95532907 single base substitution A T intron_variant BRCA-EU 7 95532913 95532913 single base substitution C T intron_variant BRCA-EU 7 95533417 95533417 single base substitution C T intron_variant BRCA-EU 7 95533658 95533658 single base substitution G A intron_variant BRCA-EU 7 95534805 95534805 single base substitution C A intron_variant BRCA-EU 7 95535121 95535121 single base substitution C A intron_variant BRCA-EU 7 95535994 95535994 single base substitution G C intron_variant BRCA-EU 7 95537710 95537710 single base substitution C A intron_variant BRCA-EU 7 95539298 95539298 single base substitution G C intron_variant BRCA-EU 7 95539803 95539803 single base substitution G C intron_variant BRCA-EU 7 95540457 95540457 single base substitution A T intron_variant BRCA-EU 7 95540590 95540590 single base substitution G T intron_variant BRCA-EU 7 95540834 95540834 single base substitution G C intron_variant BRCA-EU 7 95541696 95541696 single base substitution A T intron_variant BRCA-EU 7 95541785 95541785 single base substitution A T intron_variant BRCA-EU 7 95541804 95541804 single base substitution G A intron_variant BRCA-EU 7 95542291 95542291 deletion of <=200bp A - intron_variant BRCA-EU 7 95542628 95542628 single base substitution G T intron_variant BRCA-EU 7 95542771 95542771 single base substitution G A intron_variant BRCA-EU 7 95542973 95542973 single base substitution C G intron_variant BRCA-EU 7 95543127 95543127 single base substitution G T intron_variant BRCA-EU 7 95543228 95543228 single base substitution G C intron_variant BRCA-EU 7 95543419 95543419 single base substitution A G intron_variant BRCA-EU 7 95545059 95545059 single base substitution A G intron_variant BRCA-EU 7 95545243 95545243 single base substitution C G intron_variant BRCA-EU 7 95545986 95545986 single base substitution G T intron_variant BRCA-EU 7 95546021 95546021 single base substitution C A intron_variant BRCA-EU 7 95546083 95546083 single base substitution G C intron_variant BRCA-EU 7 95546459 95546459 single base substitution C T intron_variant BRCA-EU 7 95546756 95546756 single base substitution C G intron_variant BRCA-EU 7 95547910 95547910 deletion of <=200bp T - intron_variant BRCA-EU 7 95547910 95547910 insertion of <=200bp - T intron_variant BRCA-EU 7 95549935 95549935 single base substitution T G intron_variant BRCA-EU 7 95550196 95550196 single base substitution C G intron_variant BRCA-EU 7 95550243 95550243 single base substitution A G intron_variant BRCA-EU 7 95551118 95551118 single base substitution C T intron_variant BRCA-EU 7 95551914 95551914 single base substitution G C intron_variant BRCA-EU 7 95552544 95552544 single base substitution T C intron_variant BRCA-EU 7 95552672 95552672 insertion of <=200bp - T intron_variant BRCA-EU 7 95553544 95553544 single base substitution T G intron_variant BRCA-EU 7 95553865 95553865 single base substitution C T intron_variant BRCA-EU 7 95555474 95555474 single base substitution C T intron_variant BRCA-EU 7 95555755 95555755 single base substitution A T intron_variant BRCA-EU 7 95556129 95556129 single base substitution T C intron_variant BRCA-EU 7 95556133 95556133 single base substitution C A intron_variant BRCA-EU 7 95556167 95556167 single base substitution G A intron_variant BRCA-EU 7 95557024 95557024 single base substitution T G intron_variant BRCA-EU 7 95557533 95557533 single base substitution C T intron_variant BRCA-EU 7 95557689 95557689 single base substitution C G intron_variant BRCA-EU 7 95558096 95558096 single base substitution A G intron_variant BRCA-EU 7 95560194 95560194 single base substitution G A intron_variant BRCA-EU 7 95560896 95560896 single base substitution A C intron_variant BRCA-EU 7 95561639 95561639 single base substitution A G intron_variant BRCA-EU 7 95561871 95561871 single base substitution G A intron_variant BRCA-EU 7 95562391 95562391 single base substitution C T intron_variant BRCA-EU 7 95562458 95562458 single base substitution G A intron_variant BRCA-EU 7 95563028 95563028 single base substitution A T intron_variant BRCA-EU 7 95563154 95563176 deletion of <=200bp GGATTTATTTTGAGCCTAGTGGT - intron_variant BRCA-EU 7 95563214 95563214 single base substitution G T intron_variant BRCA-EU 7 95564117 95564117 single base substitution C A intron_variant BRCA-EU 7 95564219 95564219 deletion of <=200bp T - intron_variant BRCA-EU 7 95564361 95564361 single base substitution G T intron_variant BRCA-EU 7 95566821 95566821 single base substitution A G intron_variant BRCA-EU 7 95568296 95568296 single base substitution C G intron_variant BRCA-EU 7 95570015 95570015 single base substitution A T intron_variant BRCA-EU 7 95573680 95573680 single base substitution G A intron_variant BRCA-EU 7 95573844 95573844 single base substitution C A intron_variant BRCA-EU 7 95574530 95574530 single base substitution G A intron_variant BRCA-EU 7 95574531 95574531 single base substitution A G intron_variant BRCA-EU 7 95575695 95575695 single base substitution C G intron_variant BRCA-EU 7 95576962 95576962 single base substitution C G intron_variant BRCA-EU 7 95578375 95578375 single base substitution G C intron_variant BRCA-EU 7 95578897 95578897 single base substitution C A intron_variant BRCA-EU 7 95579094 95579094 single base substitution G C intron_variant BRCA-EU 7 95579649 95579649 single base substitution G T intron_variant BRCA-EU 7 95579776 95579776 single base substitution C T intron_variant BRCA-EU 7 95581715 95581715 single base substitution A T intron_variant BRCA-EU 7 95581951 95581951 single base substitution T C intron_variant BRCA-EU 7 95582729 95582730 deletion of <=200bp AG - intron_variant BRCA-EU 7 95583319 95583319 single base substitution A G intron_variant BRCA-EU 7 95584744 95584744 single base substitution C A intron_variant BRCA-EU 7 95586766 95586766 single base substitution C G intron_variant BRCA-EU 7 95587745 95587745 deletion of <=200bp T - intron_variant BRCA-EU 7 95587805 95587805 single base substitution C G intron_variant BRCA-EU 7 95587844 95587844 single base substitution G A intron_variant BRCA-EU 7 95588344 95588344 single base substitution G A intron_variant BRCA-EU 7 95589074 95589074 single base substitution T C intron_variant BRCA-EU 7 95589608 95589608 single base substitution G T intron_variant BRCA-EU 7 95590415 95590415 single base substitution T A intron_variant BRCA-EU 7 95590664 95590664 single base substitution C T intron_variant BRCA-EU 7 95590899 95590899 single base substitution G C intron_variant BRCA-EU 7 95591617 95591617 single base substitution C T intron_variant BRCA-EU 7 95592264 95592264 single base substitution A T intron_variant BRCA-EU 7 95594918 95594918 single base substitution T A intron_variant BRCA-EU 7 95594961 95594961 single base substitution G A intron_variant BRCA-EU 7 95597132 95597132 single base substitution C A intron_variant BRCA-EU 7 95597384 95597384 single base substitution T A intron_variant BRCA-EU 7 95598258 95598258 single base substitution C T intron_variant BRCA-EU 7 95598418 95598418 single base substitution C T intron_variant BRCA-EU 7 95598462 95598462 single base substitution G A intron_variant BRCA-EU 7 95599183 95599183 single base substitution G T intron_variant BRCA-EU 7 95599273 95599273 single base substitution T C intron_variant BRCA-EU 7 95601183 95601183 single base substitution G A intron_variant BRCA-EU 7 95601555 95601555 single base substitution G T intron_variant BRCA-EU 7 95602566 95602566 single base substitution T C intron_variant BRCA-EU 7 95603086 95603086 single base substitution C G intron_variant BRCA-EU 7 95604424 95604424 single base substitution C G intron_variant BRCA-EU 7 95605027 95605027 single base substitution C G intron_variant BRCA-EU 7 95605358 95605358 deletion of <=200bp A - intron_variant BRCA-EU 7 95606007 95606007 single base substitution A T intron_variant BRCA-EU 7 95606012 95606012 single base substitution G A intron_variant BRCA-EU 7 95606408 95606408 single base substitution T G intron_variant BRCA-EU 7 95607546 95607546 single base substitution G C intron_variant BRCA-EU 7 95608682 95608682 single base substitution A T intron_variant BRCA-EU 7 95609326 95609326 single base substitution G T intron_variant BRCA-EU 7 95609546 95609546 single base substitution C G intron_variant BRCA-EU 7 95610226 95610226 single base substitution G C intron_variant BRCA-EU 7 95610246 95610246 single base substitution G T intron_variant BRCA-EU 7 95610522 95610522 single base substitution A T intron_variant BRCA-EU 7 95611842 95611842 insertion of <=200bp - T intron_variant BRCA-EU 7 95611924 95611924 single base substitution G T intron_variant BRCA-EU 7 95612284 95612284 single base substitution C G intron_variant BRCA-EU 7 95613466 95613466 single base substitution C G intron_variant BRCA-EU 7 95614242 95614242 single base substitution C T exon_variant BRCA-EU 7 95614242 95614242 single base substitution C T synonymous_variant S212S 636C>T BRCA-EU 7 95614242 95614242 single base substitution C T synonymous_variant S229S 687C>T BRCA-EU 7 95614242 95614242 single base substitution C T synonymous_variant S232S 696C>T BRCA-EU 7 95614242 95614242 single base substitution C T synonymous_variant S249S 747C>T BRCA-EU 7 95616141 95616141 single base substitution A T intron_variant BRCA-EU 7 95616781 95616781 single base substitution T A intron_variant BRCA-EU 7 95616892 95616892 single base substitution C G intron_variant BRCA-EU 7 95616946 95616946 single base substitution C G intron_variant BRCA-EU 7 95617002 95617002 single base substitution C G intron_variant BRCA-EU 7 95617271 95617271 single base substitution T C intron_variant BRCA-EU 7 95618498 95618498 single base substitution G C intron_variant BRCA-EU 7 95618736 95618736 single base substitution G T intron_variant BRCA-EU 7 95619024 95619024 single base substitution C G intron_variant BRCA-EU 7 95620170 95620170 single base substitution C T intron_variant BRCA-EU 7 95621081 95621081 single base substitution C G intron_variant BRCA-EU 7 95622377 95622377 single base substitution C T intron_variant BRCA-EU 7 95622881 95622881 single base substitution C G intron_variant BRCA-EU 7 95623089 95623089 deletion of <=200bp A - intron_variant BRCA-EU 7 95623789 95623789 single base substitution T G intron_variant BRCA-EU 7 95624697 95624697 single base substitution C A intron_variant BRCA-EU 7 95625625 95625625 single base substitution A G intron_variant BRCA-EU 7 95625805 95625805 single base substitution C T intron_variant BRCA-EU 7 95625901 95625901 single base substitution C G intron_variant BRCA-EU 7 95627041 95627041 single base substitution T A intron_variant BRCA-EU 7 95627427 95627427 single base substitution C T intron_variant BRCA-EU 7 95629404 95629404 single base substitution C A intron_variant BRCA-EU 7 95629655 95629655 single base substitution G T intron_variant BRCA-EU 7 95630692 95630692 single base substitution G A intron_variant BRCA-EU 7 95630762 95630762 single base substitution C G intron_variant BRCA-EU 7 95630940 95630940 single base substitution G C intron_variant BRCA-EU 7 95631030 95631030 single base substitution G A intron_variant BRCA-EU 7 95631985 95631985 single base substitution A G intron_variant BRCA-EU 7 95632121 95632121 single base substitution T G intron_variant BRCA-EU 7 95632129 95632129 single base substitution G T intron_variant BRCA-EU 7 95632692 95632692 single base substitution C A intron_variant BRCA-EU 7 95632748 95632748 single base substitution C T intron_variant BRCA-EU 7 95632876 95632876 single base substitution A G intron_variant BRCA-EU 7 95633217 95633217 single base substitution G C intron_variant BRCA-EU 7 95633225 95633225 single base substitution C T intron_variant BRCA-EU 7 95635390 95635390 single base substitution G C intron_variant BRCA-EU 7 95636579 95636579 single base substitution A T intron_variant BRCA-EU 7 95636584 95636584 single base substitution A G intron_variant BRCA-EU 7 95636698 95636698 deletion of <=200bp A - intron_variant BRCA-EU 7 95637866 95637866 single base substitution G A intron_variant BRCA-EU 7 95638177 95638177 single base substitution A G intron_variant BRCA-EU 7 95638455 95638455 single base substitution C T intron_variant BRCA-EU 7 95638745 95638745 single base substitution T C intron_variant BRCA-EU 7 95639324 95639324 single base substitution C A intron_variant BRCA-EU 7 95639338 95639338 single base substitution G A intron_variant BRCA-EU 7 95639601 95639601 single base substitution G T intron_variant BRCA-EU 7 95640069 95640069 single base substitution T A intron_variant BRCA-EU 7 95640133 95640133 single base substitution G A intron_variant BRCA-EU 7 95640421 95640421 single base substitution C T intron_variant BRCA-EU 7 95641350 95641350 single base substitution G C intron_variant BRCA-EU 7 95642148 95642148 single base substitution C G intron_variant BRCA-EU 7 95642299 95642299 single base substitution G T intron_variant BRCA-EU 7 95642976 95642976 single base substitution G T intron_variant BRCA-EU 7 95643034 95643034 single base substitution G A intron_variant BRCA-EU 7 95643796 95643796 single base substitution G A intron_variant BRCA-EU 7 95643893 95643893 single base substitution G A intron_variant BRCA-EU 7 95643894 95643894 single base substitution C G intron_variant BRCA-EU 7 95644757 95644757 single base substitution C T intron_variant BRCA-EU 7 95645226 95645226 single base substitution T G intron_variant BRCA-EU 7 95645614 95645614 single base substitution G T intron_variant BRCA-EU 7 95646421 95646421 single base substitution C G intron_variant BRCA-EU 7 95646431 95646431 single base substitution G C intron_variant BRCA-EU 7 95646650 95646650 single base substitution C T intron_variant BRCA-EU 7 95646777 95646777 single base substitution C T intron_variant BRCA-EU 7 95646829 95646829 single base substitution A C intron_variant BRCA-EU 7 95647428 95647428 single base substitution C G intron_variant BRCA-EU 7 95647622 95647622 single base substitution G A intron_variant BRCA-EU 7 95648216 95648216 single base substitution T A intron_variant BRCA-EU 7 95649028 95649028 single base substitution A G intron_variant BRCA-EU 7 95650374 95650374 single base substitution A C intron_variant BRCA-EU 7 95653146 95653146 single base substitution C G intron_variant BRCA-EU 7 95654065 95654065 single base substitution A C intron_variant BRCA-EU 7 95654951 95654951 single base substitution A T intron_variant BRCA-EU 7 95655499 95655499 single base substitution A G intron_variant BRCA-EU 7 95655735 95655735 deletion of <=200bp T - intron_variant BRCA-EU 7 95656094 95656094 single base substitution C T intron_variant BRCA-EU 7 95656263 95656263 single base substitution G C intron_variant BRCA-EU 7 95656896 95656896 single base substitution G T intron_variant BRCA-EU 7 95657113 95657113 single base substitution A T intron_variant BRCA-EU 7 95657113 95657113 single base substitution A T upstream_gene_variant BRCA-EU 7 95657361 95657361 single base substitution C A intron_variant BRCA-EU 7 95657361 95657361 single base substitution C A upstream_gene_variant BRCA-EU 7 95658100 95658100 single base substitution G C downstream_gene_variant BRCA-EU 7 95658100 95658100 single base substitution G C intron_variant BRCA-EU 7 95658100 95658100 single base substitution G C upstream_gene_variant BRCA-EU 7 95658185 95658185 single base substitution G T downstream_gene_variant BRCA-EU 7 95658185 95658185 single base substitution G T intron_variant BRCA-EU 7 95658185 95658185 single base substitution G T upstream_gene_variant BRCA-EU 7 95658868 95658868 single base substitution A T downstream_gene_variant BRCA-EU 7 95658868 95658868 single base substitution A T intron_variant BRCA-EU 7 95658868 95658868 single base substitution A T upstream_gene_variant BRCA-EU 7 95659230 95659230 single base substitution A G downstream_gene_variant BRCA-EU 7 95659230 95659230 single base substitution A G intron_variant BRCA-EU 7 95659230 95659230 single base substitution A G upstream_gene_variant BRCA-EU 7 95659392 95659392 single base substitution T C downstream_gene_variant BRCA-EU 7 95659392 95659392 single base substitution T C intron_variant BRCA-EU 7 95659392 95659392 single base substitution T C upstream_gene_variant BRCA-EU 7 95660435 95660435 single base substitution A G downstream_gene_variant BRCA-EU 7 95660435 95660435 single base substitution A G intron_variant BRCA-EU 7 95660435 95660435 single base substitution A G upstream_gene_variant BRCA-EU 7 95661210 95661210 single base substitution G A downstream_gene_variant BRCA-EU 7 95661210 95661210 single base substitution G A intron_variant BRCA-EU 7 95661210 95661210 single base substitution G A upstream_gene_variant BRCA-EU 7 95661220 95661220 single base substitution C A downstream_gene_variant BRCA-EU 7 95661220 95661220 single base substitution C A intron_variant BRCA-EU 7 95661220 95661220 single base substitution C A upstream_gene_variant BRCA-EU 7 95661274 95661274 single base substitution A G downstream_gene_variant BRCA-EU 7 95661274 95661274 single base substitution A G intron_variant BRCA-EU 7 95661274 95661274 single base substitution A G upstream_gene_variant BRCA-EU 7 95662867 95662867 single base substitution T A intron_variant BRCA-EU 7 95663530 95663530 single base substitution C A intron_variant BRCA-EU 7 95663952 95663952 single base substitution T A intron_variant BRCA-EU 7 95664772 95664793 deletion of <=200bp ATGTCAGGGGCAGTAAAGCATG - intron_variant BRCA-EU 7 95664774 95664774 single base substitution G T intron_variant BRCA-EU 7 95665618 95665618 single base substitution G C intron_variant BRCA-EU 7 95666194 95666194 single base substitution A T intron_variant BRCA-EU 7 95668305 95668305 single base substitution G C intron_variant BRCA-EU 7 95669009 95669009 single base substitution A G intron_variant BRCA-EU 7 95669156 95669156 insertion of <=200bp - G intron_variant BRCA-EU 7 95670219 95670219 single base substitution G A intron_variant BRCA-EU 7 95670500 95670500 single base substitution A C intron_variant BRCA-EU 7 95673267 95673267 single base substitution G A intron_variant BRCA-EU 7 95674671 95674671 single base substitution G A intron_variant BRCA-EU 7 95676602 95676602 single base substitution A T intron_variant BRCA-EU 7 95677125 95677125 single base substitution A T intron_variant BRCA-EU 7 95677396 95677396 single base substitution T C intron_variant BRCA-EU 7 95677815 95677815 single base substitution C T intron_variant BRCA-EU 7 95678289 95678289 single base substitution A C intron_variant BRCA-EU 7 95678450 95678450 single base substitution G T intron_variant BRCA-EU 7 95678888 95678888 single base substitution C T intron_variant BRCA-EU 7 95679313 95679313 single base substitution G A intron_variant BRCA-EU 7 95680123 95680123 single base substitution G A intron_variant BRCA-EU 7 95681376 95681376 single base substitution G C intron_variant BRCA-EU 7 95681642 95681642 single base substitution G A intron_variant BRCA-EU 7 95681800 95681800 single base substitution C G intron_variant BRCA-EU 7 95681960 95681960 single base substitution G A intron_variant BRCA-EU 7 95683523 95683523 single base substitution C T intron_variant BRCA-EU 7 95684807 95684807 single base substitution G C intron_variant BRCA-EU 7 95685054 95685054 insertion of <=200bp - A intron_variant BRCA-EU 7 95685768 95685768 single base substitution G T downstream_gene_variant BRCA-EU 7 95685768 95685768 single base substitution G T intron_variant BRCA-EU 7 95688069 95688069 single base substitution C T downstream_gene_variant BRCA-EU 7 95688069 95688069 single base substitution C T intron_variant BRCA-EU 7 95688179 95688179 single base substitution C A downstream_gene_variant BRCA-EU 7 95688179 95688179 single base substitution C A intron_variant BRCA-EU 7 95688197 95688197 single base substitution C T downstream_gene_variant BRCA-EU 7 95688197 95688197 single base substitution C T intron_variant BRCA-EU 7 95688201 95688201 single base substitution C A downstream_gene_variant BRCA-EU 7 95688201 95688201 single base substitution C A intron_variant BRCA-EU 7 95689416 95689416 single base substitution C A downstream_gene_variant BRCA-EU 7 95689416 95689416 single base substitution C A intron_variant BRCA-EU 7 95690108 95690108 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 95690108 95690108 deletion of <=200bp A - intron_variant BRCA-EU 7 95690946 95690946 single base substitution G C intron_variant BRCA-EU 7 95693621 95693621 single base substitution G A intron_variant BRCA-EU 7 95693957 95693957 single base substitution G A intron_variant BRCA-EU 7 95694271 95694271 single base substitution C G intron_variant BRCA-EU 7 95694933 95694933 single base substitution C G intron_variant BRCA-EU 7 95695820 95695820 single base substitution A G intron_variant BRCA-EU 7 95697928 95697928 single base substitution C T intron_variant BRCA-EU 7 95698194 95698194 single base substitution C T intron_variant BRCA-EU 7 95699825 95699826 deletion of <=200bp CC - intron_variant BRCA-EU 7 95700233 95700233 single base substitution A G intron_variant BRCA-EU 7 95700283 95700283 single base substitution C G intron_variant BRCA-EU 7 95700337 95700337 deletion of <=200bp T - intron_variant BRCA-EU 7 95700365 95700365 single base substitution C T intron_variant BRCA-EU 7 95700595 95700595 insertion of <=200bp - T intron_variant BRCA-EU 7 95701407 95701407 single base substitution C T intron_variant BRCA-EU 7 95701924 95701924 single base substitution C T intron_variant BRCA-EU 7 95702108 95702108 single base substitution T C intron_variant BRCA-EU 7 95702897 95702897 single base substitution A C intron_variant BRCA-EU 7 95704263 95704263 deletion of <=200bp A - intron_variant BRCA-EU 7 95706293 95706293 insertion of <=200bp - T intron_variant BRCA-EU 7 95707953 95707953 single base substitution A T intron_variant BRCA-EU 7 95709790 95709790 single base substitution A G missense_variant D569G 1706A>G BRCA-EU 7 95709790 95709790 single base substitution A G missense_variant D586G 1757A>G BRCA-EU 7 95709790 95709790 single base substitution A G missense_variant D589G 1766A>G BRCA-EU 7 95709790 95709790 single base substitution A G missense_variant D606G 1817A>G BRCA-EU 7 95709830 95709830 single base substitution T A intron_variant BRCA-EU 7 95711466 95711466 single base substitution G A intron_variant BRCA-EU 7 95711901 95711901 single base substitution G C intron_variant BRCA-EU 7 95713360 95713360 deletion of <=200bp T - intron_variant BRCA-EU 7 95713565 95713565 single base substitution A G intron_variant BRCA-EU 7 95713780 95713780 single base substitution G A intron_variant BRCA-EU 7 95717506 95717506 single base substitution C G intron_variant BRCA-EU 7 95717673 95717673 single base substitution G T intron_variant BRCA-EU 7 95718525 95718525 single base substitution C G intron_variant BRCA-EU 7 95720100 95720100 single base substitution G A intron_variant BRCA-EU 7 95720473 95720473 single base substitution T A intron_variant BRCA-EU 7 95722831 95722831 single base substitution A C intron_variant BRCA-EU 7 95723106 95723106 single base substitution G C intron_variant BRCA-EU 7 95723594 95723594 single base substitution G A intron_variant BRCA-EU 7 95726480 95726480 single base substitution C G intron_variant BRCA-EU 7 95726724 95726724 single base substitution C T intron_variant BRCA-EU 7 95726973 95726973 single base substitution C A 3_prime_UTR_variant BRCA-EU 7 95726973 95726973 single base substitution C A intron_variant BRCA-EU 7 95730758 95730758 single base substitution G A downstream_gene_variant BRCA-EU 7 95730758 95730758 single base substitution G A intron_variant BRCA-EU 7 95731025 95731025 single base substitution G C downstream_gene_variant BRCA-EU 7 95731025 95731025 single base substitution G C intron_variant BRCA-EU 7 95731507 95731507 single base substitution T A downstream_gene_variant BRCA-EU 7 95731507 95731507 single base substitution T A intron_variant BRCA-EU 7 95731616 95731616 single base substitution C T downstream_gene_variant BRCA-EU 7 95731616 95731616 single base substitution C T intron_variant BRCA-EU 7 95731625 95731625 single base substitution C G downstream_gene_variant BRCA-EU 7 95731625 95731625 single base substitution C G intron_variant BRCA-EU 7 95731797 95731797 single base substitution C G downstream_gene_variant BRCA-EU 7 95731797 95731797 single base substitution C G intron_variant BRCA-EU 7 95731993 95731993 single base substitution T G downstream_gene_variant BRCA-EU 7 95731993 95731993 single base substitution T G intron_variant BRCA-EU 7 95733167 95733167 single base substitution A T intron_variant BRCA-EU 7 95735414 95735414 single base substitution T C intron_variant BRCA-EU 7 95735432 95735432 single base substitution T A intron_variant BRCA-EU 7 95735864 95735864 single base substitution A T intron_variant BRCA-EU 7 95736353 95736353 single base substitution T C intron_variant BRCA-EU 7 95736730 95736730 single base substitution G A intron_variant BRCA-EU 7 95737060 95737060 single base substitution G A intron_variant BRCA-EU 7 95738273 95738273 single base substitution C G intron_variant BRCA-EU 7 95738794 95738794 single base substitution T C intron_variant BRCA-EU 7 95739961 95739961 single base substitution C T downstream_gene_variant BRCA-EU 7 95740577 95740577 single base substitution G A downstream_gene_variant BRCA-EU 7 95741515 95741517 deletion of <=200bp TTG - downstream_gene_variant BRCA-EU 7 95741725 95741725 single base substitution A T downstream_gene_variant BRCA-EU 7 95741926 95741926 single base substitution A G downstream_gene_variant BRCA-EU 7 95741937 95741937 single base substitution C G downstream_gene_variant BRCA-EU 7 95742838 95742838 single base substitution G A downstream_gene_variant BRCA-EU 7 95743167 95743167 single base substitution C T downstream_gene_variant BRCA-EU 7 95743498 95743498 single base substitution C A downstream_gene_variant BRCA-EU 7 95743513 95743513 single base substitution G A downstream_gene_variant BRCA-EU 7 95744461 95744461 single base substitution C G downstream_gene_variant BRCA-FR 7 95396894 95396894 single base substitution G T upstream_gene_variant BRCA-FR 7 95402162 95402162 single base substitution C T intron_variant BRCA-FR 7 95404064 95404064 single base substitution C G intron_variant BRCA-FR 7 95426793 95426793 single base substitution C G intron_variant BRCA-FR 7 95429263 95429263 single base substitution A G intron_variant BRCA-FR 7 95429263 95429263 single base substitution A G upstream_gene_variant BRCA-FR 7 95434919 95434919 single base substitution G T intron_variant BRCA-FR 7 95438562 95438562 single base substitution A G intron_variant BRCA-FR 7 95439086 95439086 single base substitution C G intron_variant BRCA-FR 7 95441375 95441375 single base substitution C T intron_variant BRCA-FR 7 95445686 95445686 single base substitution G C downstream_gene_variant BRCA-FR 7 95445686 95445686 single base substitution G C intron_variant BRCA-FR 7 95447698 95447698 single base substitution C T intron_variant BRCA-FR 7 95458110 95458110 single base substitution C G downstream_gene_variant BRCA-FR 7 95458110 95458110 single base substitution C G intron_variant BRCA-FR 7 95460715 95460715 single base substitution C G downstream_gene_variant BRCA-FR 7 95460715 95460715 single base substitution C G intron_variant BRCA-FR 7 95473621 95473621 single base substitution G A intron_variant BRCA-FR 7 95476965 95476965 single base substitution C T intron_variant BRCA-FR 7 95483692 95483692 single base substitution G A intron_variant BRCA-FR 7 95492504 95492504 single base substitution G C intron_variant BRCA-FR 7 95497686 95497686 single base substitution G A intron_variant BRCA-FR 7 95504123 95504123 single base substitution T G intron_variant BRCA-FR 7 95505293 95505293 single base substitution C T intron_variant BRCA-FR 7 95515146 95515146 single base substitution C G intron_variant BRCA-FR 7 95517972 95517972 single base substitution G C intron_variant BRCA-FR 7 95518768 95518768 single base substitution G C intron_variant BRCA-FR 7 95523169 95523169 single base substitution G A intron_variant BRCA-FR 7 95524876 95524876 single base substitution T A intron_variant BRCA-FR 7 95530600 95530600 single base substitution C A intron_variant BRCA-FR 7 95531907 95531907 single base substitution C G intron_variant BRCA-FR 7 95532913 95532913 single base substitution C T intron_variant BRCA-FR 7 95533417 95533417 single base substitution C T intron_variant BRCA-FR 7 95534015 95534015 single base substitution C T intron_variant BRCA-FR 7 95545059 95545059 single base substitution A G intron_variant BRCA-FR 7 95588344 95588344 single base substitution G A intron_variant BRCA-FR 7 95588896 95588896 single base substitution A T intron_variant BRCA-FR 7 95592264 95592264 single base substitution A T intron_variant BRCA-FR 7 95594671 95594671 single base substitution T C intron_variant BRCA-FR 7 95601629 95601629 single base substitution C A intron_variant BRCA-FR 7 95605027 95605027 single base substitution C G intron_variant BRCA-FR 7 95607752 95607752 single base substitution T C intron_variant BRCA-FR 7 95610226 95610226 single base substitution G C intron_variant BRCA-FR 7 95616244 95616244 single base substitution A T intron_variant BRCA-FR 7 95616946 95616946 single base substitution C G intron_variant BRCA-FR 7 95617002 95617002 single base substitution C G intron_variant BRCA-FR 7 95629655 95629655 single base substitution G T intron_variant BRCA-FR 7 95635390 95635390 single base substitution G C intron_variant BRCA-FR 7 95638177 95638177 single base substitution A G intron_variant BRCA-FR 7 95643796 95643796 single base substitution G A intron_variant BRCA-FR 7 95646829 95646829 single base substitution A C intron_variant BRCA-FR 7 95655120 95655120 single base substitution C G intron_variant BRCA-FR 7 95655499 95655499 single base substitution A G intron_variant BRCA-FR 7 95668138 95668138 single base substitution C G intron_variant BRCA-FR 7 95668305 95668305 single base substitution G C intron_variant BRCA-FR 7 95670219 95670219 single base substitution G A intron_variant BRCA-FR 7 95681982 95681982 single base substitution G A intron_variant BRCA-FR 7 95685768 95685768 single base substitution G T downstream_gene_variant BRCA-FR 7 95685768 95685768 single base substitution G T intron_variant BRCA-FR 7 95689176 95689176 single base substitution G A downstream_gene_variant BRCA-FR 7 95689176 95689176 single base substitution G A intron_variant BRCA-FR 7 95690300 95690300 single base substitution T C downstream_gene_variant BRCA-FR 7 95690300 95690300 single base substitution T C intron_variant BRCA-FR 7 95693621 95693621 single base substitution G A intron_variant BRCA-FR 7 95719355 95719355 single base substitution C T intron_variant BRCA-FR 7 95720100 95720100 single base substitution G A intron_variant BRCA-FR 7 95721875 95721875 single base substitution C G intron_variant BRCA-FR 7 95731025 95731025 single base substitution G C downstream_gene_variant BRCA-FR 7 95731025 95731025 single base substitution G C intron_variant BRCA-FR 7 95731507 95731507 single base substitution T A downstream_gene_variant BRCA-FR 7 95731507 95731507 single base substitution T A intron_variant BRCA-FR 7 95738273 95738273 single base substitution C G intron_variant BRCA-FR 7 95741926 95741926 single base substitution A G downstream_gene_variant BRCA-FR 7 95741937 95741937 single base substitution C G downstream_gene_variant BRCA-UK 7 95400252 95400252 single base substitution C G upstream_gene_variant BRCA-UK 7 95407117 95407117 single base substitution T G intron_variant BRCA-UK 7 95414119 95414119 single base substitution A G intron_variant BRCA-UK 7 95424247 95424247 single base substitution A G intron_variant BRCA-UK 7 95439799 95439799 single base substitution C T synonymous_variant I68I 204C>T BRCA-UK 7 95439850 95439850 single base substitution C G intron_variant BRCA-UK 7 95442549 95442549 single base substitution C T intron_variant BRCA-UK 7 95442549 95442549 single base substitution C T missense_variant H89Y 265C>T BRCA-UK 7 95474816 95474816 single base substitution A G intron_variant BRCA-UK 7 95490852 95490852 single base substitution C T intron_variant BRCA-UK 7 95499268 95499268 single base substitution T G exon_variant BRCA-UK 7 95499268 95499268 single base substitution T G missense_variant S130A 388T>G BRCA-UK 7 95499268 95499268 single base substitution T G missense_variant S147A 439T>G BRCA-UK 7 95499268 95499268 single base substitution T G missense_variant S150A 448T>G BRCA-UK 7 95499268 95499268 single base substitution T G missense_variant S167A 499T>G BRCA-UK 7 95515843 95515843 single base substitution A C intron_variant BRCA-UK 7 95522897 95522897 single base substitution G T intron_variant BRCA-UK 7 95527543 95527543 single base substitution C G intron_variant BRCA-UK 7 95529918 95529918 single base substitution C T intron_variant BRCA-UK 7 95550196 95550196 single base substitution C G intron_variant BRCA-UK 7 95561639 95561639 single base substitution A G intron_variant BRCA-UK 7 95563214 95563214 single base substitution G T intron_variant BRCA-UK 7 95579776 95579776 single base substitution C T intron_variant BRCA-UK 7 95581951 95581951 single base substitution T C intron_variant BRCA-UK 7 95584744 95584744 single base substitution C A intron_variant BRCA-UK 7 95586263 95586263 single base substitution C T intron_variant BRCA-UK 7 95596881 95596881 single base substitution C T intron_variant BRCA-UK 7 95608682 95608682 single base substitution A T intron_variant BRCA-UK 7 95610522 95610522 single base substitution A T intron_variant BRCA-UK 7 95666194 95666194 single base substitution A T intron_variant BRCA-UK 7 95700367 95700367 single base substitution C T intron_variant BRCA-UK 7 95720473 95720473 single base substitution T A intron_variant BRCA-UK 7 95743800 95743800 single base substitution C T downstream_gene_variant BRCA-UK 7 95744461 95744461 single base substitution C G downstream_gene_variant BRCA-US 7 95434081 95434081 deletion of <=200bp A - frameshift_variant K14 BRCA-US 7 95499217 95499217 single base substitution G A exon_variant BRCA-US 7 95499217 95499217 single base substitution G A missense_variant V113M 337G>A BRCA-US 7 95499217 95499217 single base substitution G A missense_variant V130M 388G>A BRCA-US 7 95499217 95499217 single base substitution G A missense_variant V133M 397G>A BRCA-US 7 95499217 95499217 single base substitution G A missense_variant V150M 448G>A BRCA-US 7 95657609 95657609 single base substitution A C exon_variant BRCA-US 7 95657609 95657609 single base substitution A C synonymous_variant T344T 1032A>C BRCA-US 7 95657609 95657609 single base substitution A C synonymous_variant T361T 1083A>C BRCA-US 7 95657609 95657609 single base substitution A C synonymous_variant T364T 1092A>C BRCA-US 7 95657609 95657609 single base substitution A C synonymous_variant T381T 1143A>C BRCA-US 7 95657609 95657609 single base substitution A C upstream_gene_variant BRCA-US 7 95657618 95657618 single base substitution A C exon_variant BRCA-US 7 95657618 95657618 single base substitution A C synonymous_variant S347S 1041A>C BRCA-US 7 95657618 95657618 single base substitution A C synonymous_variant S364S 1092A>C BRCA-US 7 95657618 95657618 single base substitution A C synonymous_variant S367S 1101A>C BRCA-US 7 95657618 95657618 single base substitution A C synonymous_variant S384S 1152A>C BRCA-US 7 95657618 95657618 single base substitution A C upstream_gene_variant BRCA-US 7 95661999 95661999 single base substitution T A downstream_gene_variant BRCA-US 7 95661999 95661999 single base substitution T A exon_variant BRCA-US 7 95661999 95661999 single base substitution T A missense_variant N359K 1077T>A BRCA-US 7 95661999 95661999 single base substitution T A missense_variant N376K 1128T>A BRCA-US 7 95661999 95661999 single base substitution T A missense_variant N379K 1137T>A BRCA-US 7 95661999 95661999 single base substitution T A missense_variant N396K 1188T>A BRCA-US 7 95665026 95665026 single base substitution T C exon_variant BRCA-US 7 95665026 95665026 single base substitution T C synonymous_variant S422S 1266T>C BRCA-US 7 95665026 95665026 single base substitution T C synonymous_variant S439S 1317T>C BRCA-US 7 95665026 95665026 single base substitution T C synonymous_variant S442S 1326T>C BRCA-US 7 95665026 95665026 single base substitution T C synonymous_variant S459S 1377T>C BRCA-US 7 95668673 95668673 single base substitution C A exon_variant BRCA-US 7 95668673 95668673 single base substitution C A missense_variant D463E 1389C>A BRCA-US 7 95668673 95668673 single base substitution C A missense_variant D480E 1440C>A BRCA-US 7 95668673 95668673 single base substitution C A missense_variant D483E 1449C>A BRCA-US 7 95668673 95668673 single base substitution C A missense_variant D500E 1500C>A BRCA-US 7 95726876 95726876 single base substitution G A intron_variant BRCA-US 7 95726876 95726876 single base substitution G A missense_variant E600K 1798G>A BRCA-US 7 95726876 95726876 single base substitution G A missense_variant E617K 1849G>A BRCA-US 7 95726876 95726876 single base substitution G A missense_variant E620K 1858G>A BRCA-US 7 95726876 95726876 single base substitution G A missense_variant E637K 1909G>A BTCA-JP 7 95457564 95457564 single base substitution A T downstream_gene_variant BTCA-JP 7 95457564 95457564 single base substitution A T intron_variant BTCA-JP 7 95614265 95614265 single base substitution G A exon_variant BTCA-JP 7 95614265 95614265 single base substitution G A missense_variant G220D 659G>A BTCA-JP 7 95614265 95614265 single base substitution G A missense_variant G237D 710G>A BTCA-JP 7 95614265 95614265 single base substitution G A missense_variant G240D 719G>A BTCA-JP 7 95614265 95614265 single base substitution G A missense_variant G257D 770G>A BTCA-JP 7 95662018 95662018 single base substitution G A downstream_gene_variant BTCA-JP 7 95662018 95662018 single base substitution G A exon_variant BTCA-JP 7 95662018 95662018 single base substitution G A missense_variant A366T 1096G>A BTCA-JP 7 95662018 95662018 single base substitution G A missense_variant A383T 1147G>A BTCA-JP 7 95662018 95662018 single base substitution G A missense_variant A386T 1156G>A BTCA-JP 7 95662018 95662018 single base substitution G A missense_variant A403T 1207G>A CESC-US 7 95442584 95442584 single base substitution G T synonymous_variant S100S 300G>T CESC-US 7 95442584 95442584 single base substitution G T synonymous_variant S83S 249G>T CESC-US 7 95705393 95705393 single base substitution G A missense_variant E492K 1474G>A CESC-US 7 95705393 95705393 single base substitution G A missense_variant E509K 1525G>A CESC-US 7 95705393 95705393 single base substitution G A missense_variant E512K 1534G>A CESC-US 7 95705393 95705393 single base substitution G A missense_variant E529K 1585G>A CLLE-ES 7 95409625 95409625 single base substitution G A intron_variant CLLE-ES 7 95416287 95416287 single base substitution A T intron_variant CLLE-ES 7 95416415 95416415 single base substitution G A intron_variant CLLE-ES 7 95428793 95428793 single base substitution C G intron_variant CLLE-ES 7 95428793 95428793 single base substitution C G upstream_gene_variant CLLE-ES 7 95430369 95430369 single base substitution A C intron_variant CLLE-ES 7 95430369 95430369 single base substitution A C upstream_gene_variant CLLE-ES 7 95434179 95434179 single base substitution G A intron_variant CLLE-ES 7 95436893 95436893 single base substitution C T intron_variant CLLE-ES 7 95438477 95438477 single base substitution A T intron_variant CLLE-ES 7 95472836 95472836 single base substitution A G intron_variant CLLE-ES 7 95476699 95476699 deletion of <=200bp A - intron_variant CLLE-ES 7 95482408 95482408 single base substitution T C intron_variant CLLE-ES 7 95487129 95487129 single base substitution C A intron_variant CLLE-ES 7 95487180 95487180 single base substitution A T intron_variant CLLE-ES 7 95495032 95495032 single base substitution C T intron_variant CLLE-ES 7 95502579 95502579 single base substitution G A intron_variant CLLE-ES 7 95504655 95504655 single base substitution C T intron_variant CLLE-ES 7 95566596 95566596 single base substitution C G intron_variant CLLE-ES 7 95581382 95581382 single base substitution A C intron_variant CLLE-ES 7 95590957 95590957 single base substitution C G intron_variant CLLE-ES 7 95590967 95590967 single base substitution G A intron_variant CLLE-ES 7 95602916 95602916 single base substitution A C intron_variant CLLE-ES 7 95603076 95603076 single base substitution A C intron_variant CLLE-ES 7 95606714 95606714 single base substitution G A intron_variant CLLE-ES 7 95613518 95613518 single base substitution T A intron_variant CLLE-ES 7 95630745 95630745 single base substitution A T intron_variant CLLE-ES 7 95636031 95636031 single base substitution A C intron_variant CLLE-ES 7 95645566 95645566 single base substitution T C intron_variant CLLE-ES 7 95654632 95654632 single base substitution A T intron_variant CLLE-ES 7 95659010 95659010 single base substitution T C downstream_gene_variant CLLE-ES 7 95659010 95659010 single base substitution T C intron_variant CLLE-ES 7 95659010 95659010 single base substitution T C upstream_gene_variant CLLE-ES 7 95670511 95670511 single base substitution A G intron_variant CLLE-ES 7 95678666 95678666 single base substitution T G intron_variant CLLE-ES 7 95678870 95678870 single base substitution A C intron_variant CLLE-ES 7 95682285 95682285 single base substitution G T intron_variant CLLE-ES 7 95684086 95684086 single base substitution G A intron_variant CLLE-ES 7 95692413 95692413 single base substitution A G intron_variant CLLE-ES 7 95710311 95710311 single base substitution G A intron_variant CLLE-ES 7 95715465 95715465 single base substitution G A intron_variant CLLE-ES 7 95720522 95720522 single base substitution C T intron_variant CLLE-ES 7 95728523 95728523 single base substitution A G downstream_gene_variant CLLE-ES 7 95728523 95728523 single base substitution A G intron_variant CLLE-ES 7 95739361 95739361 single base substitution A G missense_variant K596R 1787A>G CLLE-ES 7 95742127 95742127 single base substitution T C downstream_gene_variant CLLE-ES 7 95742219 95742219 single base substitution T C downstream_gene_variant COAD-US 7 95606854 95606854 single base substitution C A exon_variant COAD-US 7 95606854 95606854 single base substitution C A missense_variant S154Y 461C>A COAD-US 7 95606854 95606854 single base substitution C A missense_variant S171Y 512C>A COAD-US 7 95606854 95606854 single base substitution C A missense_variant S174Y 521C>A COAD-US 7 95606854 95606854 single base substitution C A missense_variant S191Y 572C>A COAD-US 7 95625304 95625304 insertion of <=200bp - C exon_variant COAD-US 7 95625304 95625304 insertion of <=200bp - C frameshift_variant A276A? COAD-US 7 95625304 95625304 insertion of <=200bp - C frameshift_variant A293A? COAD-US 7 95625304 95625304 insertion of <=200bp - C frameshift_variant A296A? COAD-US 7 95625304 95625304 insertion of <=200bp - C frameshift_variant A313A? COAD-US 7 95657604 95657604 single base substitution C T exon_variant COAD-US 7 95657604 95657604 single base substitution C T missense_variant R343W 1027C>T COAD-US 7 95657604 95657604 single base substitution C T missense_variant R360W 1078C>T COAD-US 7 95657604 95657604 single base substitution C T missense_variant R363W 1087C>T COAD-US 7 95657604 95657604 single base substitution C T missense_variant R380W 1138C>T COAD-US 7 95657604 95657604 single base substitution C T upstream_gene_variant COAD-US 7 95668610 95668610 single base substitution C A exon_variant COAD-US 7 95668610 95668610 single base substitution C A synonymous_variant V442V 1326C>A COAD-US 7 95668610 95668610 single base substitution C A synonymous_variant V459V 1377C>A COAD-US 7 95668610 95668610 single base substitution C A synonymous_variant V462V 1386C>A COAD-US 7 95668610 95668610 single base substitution C A synonymous_variant V479V 1437C>A COAD-US 7 95709788 95709788 single base substitution T C synonymous_variant Y568Y 1704T>C COAD-US 7 95709788 95709788 single base substitution T C synonymous_variant Y585Y 1755T>C COAD-US 7 95709788 95709788 single base substitution T C synonymous_variant Y588Y 1764T>C COAD-US 7 95709788 95709788 single base substitution T C synonymous_variant Y605Y 1815T>C COAD-US 7 95726873 95726873 single base substitution G A intron_variant COAD-US 7 95726873 95726873 single base substitution G A missense_variant E599K 1795G>A COAD-US 7 95726873 95726873 single base substitution G A missense_variant E616K 1846G>A COAD-US 7 95726873 95726873 single base substitution G A missense_variant E619K 1855G>A COAD-US 7 95726873 95726873 single base substitution G A missense_variant E636K 1906G>A COCA-CN 7 95433477 95433477 single base substitution A G intron_variant COCA-CN 7 95433477 95433477 single base substitution A G upstream_gene_variant COCA-CN 7 95433683 95433683 single base substitution G T 5_prime_UTR_variant COCA-CN 7 95433683 95433683 single base substitution G T intron_variant COCA-CN 7 95434079 95434079 single base substitution G A missense_variant R13H 38G>A COCA-CN 7 95434523 95434523 single base substitution T C intron_variant COCA-CN 7 95439722 95439722 single base substitution A G missense_variant K43E 127A>G COCA-CN 7 95439756 95439756 single base substitution G A missense_variant R54H 161G>A COCA-CN 7 95455058 95455058 single base substitution C A intron_variant COCA-CN 7 95455394 95455394 single base substitution G A intron_variant COCA-CN 7 95461526 95461526 single base substitution T C downstream_gene_variant COCA-CN 7 95461526 95461526 single base substitution T C intron_variant COCA-CN 7 95461533 95461533 single base substitution C T downstream_gene_variant COCA-CN 7 95461533 95461533 single base substitution C T intron_variant COCA-CN 7 95463091 95463091 single base substitution G A intron_variant COCA-CN 7 95463091 95463091 single base substitution G A upstream_gene_variant COCA-CN 7 95463096 95463096 single base substitution T C intron_variant COCA-CN 7 95463096 95463096 single base substitution T C upstream_gene_variant COCA-CN 7 95463097 95463097 single base substitution G A intron_variant COCA-CN 7 95463097 95463097 single base substitution G A upstream_gene_variant COCA-CN 7 95463280 95463280 single base substitution G C intron_variant COCA-CN 7 95463280 95463280 single base substitution G C upstream_gene_variant COCA-CN 7 95466352 95466352 single base substitution C T intron_variant COCA-CN 7 95466352 95466352 single base substitution C T upstream_gene_variant COCA-CN 7 95466407 95466407 single base substitution G A intron_variant COCA-CN 7 95466407 95466407 single base substitution G A upstream_gene_variant COCA-CN 7 95471525 95471525 single base substitution A T intron_variant COCA-CN 7 95487441 95487441 single base substitution G A intron_variant COCA-CN 7 95499066 95499066 single base substitution C A intron_variant COCA-CN 7 95500196 95500196 single base substitution T C intron_variant COCA-CN 7 95523612 95523612 single base substitution C A intron_variant COCA-CN 7 95523771 95523771 single base substitution G T intron_variant COCA-CN 7 95527972 95527972 single base substitution G A intron_variant COCA-CN 7 95533943 95533943 single base substitution A G intron_variant COCA-CN 7 95536974 95536974 single base substitution A T intron_variant COCA-CN 7 95571562 95571562 single base substitution G A intron_variant COCA-CN 7 95572872 95572872 single base substitution T C intron_variant COCA-CN 7 95614201 95614201 single base substitution C T exon_variant COCA-CN 7 95614201 95614201 single base substitution C T missense_variant R199W 595C>T COCA-CN 7 95614201 95614201 single base substitution C T missense_variant R216W 646C>T COCA-CN 7 95614201 95614201 single base substitution C T missense_variant R219W 655C>T COCA-CN 7 95614201 95614201 single base substitution C T missense_variant R236W 706C>T COCA-CN 7 95614347 95614347 single base substitution T G intron_variant COCA-CN 7 95625370 95625370 single base substitution C T exon_variant COCA-CN 7 95625370 95625370 single base substitution C T synonymous_variant Y298Y 894C>T COCA-CN 7 95625370 95625370 single base substitution C T synonymous_variant Y315Y 945C>T COCA-CN 7 95625370 95625370 single base substitution C T synonymous_variant Y318Y 954C>T COCA-CN 7 95625370 95625370 single base substitution C T synonymous_variant Y335Y 1005C>T COCA-CN 7 95632420 95632420 single base substitution G T intron_variant COCA-CN 7 95632435 95632435 single base substitution G A intron_variant COCA-CN 7 95632552 95632552 single base substitution T C intron_variant COCA-CN 7 95639252 95639252 single base substitution C T intron_variant COCA-CN 7 95639487 95639487 single base substitution A C intron_variant COCA-CN 7 95652741 95652741 single base substitution A G intron_variant COCA-CN 7 95656339 95656339 single base substitution A G intron_variant COCA-CN 7 95657491 95657491 single base substitution C A exon_variant COCA-CN 7 95657491 95657491 single base substitution C A missense_variant S305Y 914C>A COCA-CN 7 95657491 95657491 single base substitution C A missense_variant S322Y 965C>A COCA-CN 7 95657491 95657491 single base substitution C A missense_variant S325Y 974C>A COCA-CN 7 95657491 95657491 single base substitution C A missense_variant S342Y 1025C>A COCA-CN 7 95657491 95657491 single base substitution C A upstream_gene_variant COCA-CN 7 95657552 95657552 single base substitution G A exon_variant COCA-CN 7 95657552 95657552 single base substitution G A synonymous_variant S325S 975G>A COCA-CN 7 95657552 95657552 single base substitution G A synonymous_variant S342S 1026G>A COCA-CN 7 95657552 95657552 single base substitution G A synonymous_variant S345S 1035G>A COCA-CN 7 95657552 95657552 single base substitution G A synonymous_variant S362S 1086G>A COCA-CN 7 95657552 95657552 single base substitution G A upstream_gene_variant COCA-CN 7 95664995 95664995 single base substitution C T exon_variant COCA-CN 7 95664995 95664995 single base substitution C T missense_variant T412M 1235C>T COCA-CN 7 95664995 95664995 single base substitution C T missense_variant T429M 1286C>T COCA-CN 7 95664995 95664995 single base substitution C T missense_variant T432M 1295C>T COCA-CN 7 95664995 95664995 single base substitution C T missense_variant T449M 1346C>T COCA-CN 7 95668675 95668675 single base substitution T G exon_variant COCA-CN 7 95668675 95668675 single base substitution T G missense_variant F464C 1391T>G COCA-CN 7 95668675 95668675 single base substitution T G missense_variant F481C 1442T>G COCA-CN 7 95668675 95668675 single base substitution T G missense_variant F484C 1451T>G COCA-CN 7 95668675 95668675 single base substitution T G missense_variant F501C 1502T>G COCA-CN 7 95684992 95684992 single base substitution A C intron_variant COCA-CN 7 95688078 95688078 single base substitution G T downstream_gene_variant COCA-CN 7 95688078 95688078 single base substitution G T intron_variant COCA-CN 7 95691024 95691024 single base substitution T A intron_variant COCA-CN 7 95693561 95693561 single base substitution C T intron_variant COCA-CN 7 95704085 95704085 single base substitution C T intron_variant COCA-CN 7 95705319 95705319 single base substitution C T intron_variant COCA-CN 7 95708534 95708534 single base substitution G A intron_variant COCA-CN 7 95726826 95726826 single base substitution G A intron_variant COCA-CN 7 95726826 95726826 single base substitution G A missense_variant R583Q 1748G>A COCA-CN 7 95726826 95726826 single base substitution G A missense_variant R600Q 1799G>A COCA-CN 7 95726826 95726826 single base substitution G A missense_variant R603Q 1808G>A COCA-CN 7 95726826 95726826 single base substitution G A missense_variant R620Q 1859G>A COCA-CN 7 95726852 95726852 single base substitution C T intron_variant COCA-CN 7 95726852 95726852 single base substitution C T missense_variant R592C 1774C>T COCA-CN 7 95726852 95726852 single base substitution C T missense_variant R609C 1825C>T COCA-CN 7 95726852 95726852 single base substitution C T missense_variant R612C 1834C>T COCA-CN 7 95726852 95726852 single base substitution C T missense_variant R629C 1885C>T COCA-CN 7 95734037 95734037 single base substitution T A intron_variant COCA-CN 7 95739518 95739518 single base substitution T C 3_prime_UTR_variant EOPC-DE 7 95400788 95400788 single base substitution G T upstream_gene_variant EOPC-DE 7 95401818 95401818 single base substitution A C upstream_gene_variant EOPC-DE 7 95438644 95438644 single base substitution T A intron_variant EOPC-DE 7 95468738 95468738 single base substitution T A intron_variant EOPC-DE 7 95508171 95508171 single base substitution A C intron_variant EOPC-DE 7 95543615 95543615 single base substitution C T intron_variant EOPC-DE 7 95613029 95613029 single base substitution C A intron_variant EOPC-DE 7 95719541 95719541 single base substitution C T intron_variant EOPC-DE 7 95727794 95727794 single base substitution T A downstream_gene_variant EOPC-DE 7 95727794 95727794 single base substitution T A intron_variant ESAD-UK 7 95396898 95396898 single base substitution A C upstream_gene_variant ESAD-UK 7 95397617 95397617 single base substitution T C upstream_gene_variant ESAD-UK 7 95400827 95400827 single base substitution T G upstream_gene_variant ESAD-UK 7 95402650 95402650 single base substitution C T intron_variant ESAD-UK 7 95402925 95402925 single base substitution G A intron_variant ESAD-UK 7 95404328 95404328 single base substitution G A intron_variant ESAD-UK 7 95404672 95404672 single base substitution C G intron_variant ESAD-UK 7 95404750 95404750 single base substitution A G intron_variant ESAD-UK 7 95405019 95405019 single base substitution T C intron_variant ESAD-UK 7 95405085 95405085 single base substitution G T intron_variant ESAD-UK 7 95405248 95405248 single base substitution C A intron_variant ESAD-UK 7 95406191 95406191 single base substitution A C intron_variant ESAD-UK 7 95406689 95406689 single base substitution T A intron_variant ESAD-UK 7 95406690 95406690 single base substitution G T intron_variant ESAD-UK 7 95408147 95408147 single base substitution T A intron_variant ESAD-UK 7 95408562 95408562 deletion of <=200bp T - intron_variant ESAD-UK 7 95408581 95408581 single base substitution T C intron_variant ESAD-UK 7 95409352 95409352 single base substitution G A intron_variant ESAD-UK 7 95409643 95409643 single base substitution G A intron_variant ESAD-UK 7 95409991 95409991 single base substitution A C intron_variant ESAD-UK 7 95410221 95410221 single base substitution C A intron_variant ESAD-UK 7 95410562 95410562 single base substitution T A intron_variant ESAD-UK 7 95410562 95410562 single base substitution T G intron_variant ESAD-UK 7 95410700 95410700 single base substitution C T intron_variant ESAD-UK 7 95411543 95411543 single base substitution A C intron_variant ESAD-UK 7 95413644 95413644 single base substitution G A intron_variant ESAD-UK 7 95414769 95414769 single base substitution T G intron_variant ESAD-UK 7 95415602 95415602 single base substitution T G intron_variant ESAD-UK 7 95416156 95416156 single base substitution C T intron_variant ESAD-UK 7 95416731 95416731 single base substitution G T intron_variant ESAD-UK 7 95417095 95417095 single base substitution T G intron_variant ESAD-UK 7 95417935 95417935 single base substitution G A intron_variant ESAD-UK 7 95418325 95418325 single base substitution C A intron_variant ESAD-UK 7 95418719 95418719 single base substitution A C intron_variant ESAD-UK 7 95419515 95419515 single base substitution G A intron_variant ESAD-UK 7 95420286 95420286 single base substitution T A intron_variant ESAD-UK 7 95420714 95420714 single base substitution C A intron_variant ESAD-UK 7 95420789 95420789 single base substitution A G intron_variant ESAD-UK 7 95420969 95420969 single base substitution G A intron_variant ESAD-UK 7 95421559 95421559 single base substitution C T intron_variant ESAD-UK 7 95422439 95422439 single base substitution A G intron_variant ESAD-UK 7 95422675 95422675 single base substitution T C intron_variant ESAD-UK 7 95424213 95424213 single base substitution A T intron_variant ESAD-UK 7 95425768 95425768 single base substitution G A intron_variant ESAD-UK 7 95425911 95425911 single base substitution T C intron_variant ESAD-UK 7 95426246 95426246 single base substitution A C intron_variant ESAD-UK 7 95428693 95428693 insertion of <=200bp - A intron_variant ESAD-UK 7 95428693 95428693 insertion of <=200bp - A upstream_gene_variant ESAD-UK 7 95428780 95428780 single base substitution G C intron_variant ESAD-UK 7 95428780 95428780 single base substitution G C upstream_gene_variant ESAD-UK 7 95428903 95428903 single base substitution T A intron_variant ESAD-UK 7 95428903 95428903 single base substitution T A upstream_gene_variant ESAD-UK 7 95428918 95428918 single base substitution T C intron_variant ESAD-UK 7 95428918 95428918 single base substitution T C upstream_gene_variant ESAD-UK 7 95429039 95429039 single base substitution T C intron_variant ESAD-UK 7 95429039 95429039 single base substitution T C upstream_gene_variant ESAD-UK 7 95431933 95431933 single base substitution C A intron_variant ESAD-UK 7 95431933 95431933 single base substitution C A upstream_gene_variant ESAD-UK 7 95432181 95432181 single base substitution G A intron_variant ESAD-UK 7 95432181 95432181 single base substitution G A upstream_gene_variant ESAD-UK 7 95432394 95432394 single base substitution T C intron_variant ESAD-UK 7 95432394 95432394 single base substitution T C upstream_gene_variant ESAD-UK 7 95432892 95432892 single base substitution C T intron_variant ESAD-UK 7 95432892 95432892 single base substitution C T upstream_gene_variant ESAD-UK 7 95433710 95433710 single base substitution A T intron_variant ESAD-UK 7 95433783 95433783 single base substitution C T intron_variant ESAD-UK 7 95434078 95434078 single base substitution C T missense_variant R13C 37C>T ESAD-UK 7 95434667 95434667 insertion of <=200bp - TA intron_variant ESAD-UK 7 95435469 95435469 single base substitution A C intron_variant ESAD-UK 7 95436249 95436249 single base substitution C A intron_variant ESAD-UK 7 95436675 95436675 single base substitution G T intron_variant ESAD-UK 7 95437249 95437249 single base substitution A C intron_variant ESAD-UK 7 95437631 95437631 deletion of <=200bp T - intron_variant ESAD-UK 7 95437635 95437635 single base substitution T C intron_variant ESAD-UK 7 95437635 95437635 single base substitution T G intron_variant ESAD-UK 7 95437682 95437682 single base substitution A C intron_variant ESAD-UK 7 95437809 95437809 single base substitution A C intron_variant ESAD-UK 7 95437816 95437816 single base substitution A G intron_variant ESAD-UK 7 95438395 95438395 single base substitution T C intron_variant ESAD-UK 7 95438839 95438839 single base substitution T G intron_variant ESAD-UK 7 95438869 95438869 single base substitution A G intron_variant ESAD-UK 7 95439444 95439444 single base substitution C G intron_variant ESAD-UK 7 95439488 95439488 single base substitution A C intron_variant ESAD-UK 7 95439864 95439864 single base substitution G A intron_variant ESAD-UK 7 95440145 95440145 single base substitution T C intron_variant ESAD-UK 7 95441237 95441237 single base substitution C T intron_variant ESAD-UK 7 95442363 95442363 single base substitution C G intron_variant ESAD-UK 7 95442482 95442482 single base substitution A C intron_variant ESAD-UK 7 95442654 95442654 single base substitution G A downstream_gene_variant ESAD-UK 7 95442654 95442654 single base substitution G A splice_region_variant ESAD-UK 7 95443500 95443500 single base substitution C G downstream_gene_variant ESAD-UK 7 95443500 95443500 single base substitution C G intron_variant ESAD-UK 7 95443661 95443661 single base substitution T G downstream_gene_variant ESAD-UK 7 95443661 95443661 single base substitution T G intron_variant ESAD-UK 7 95446040 95446040 single base substitution T A downstream_gene_variant ESAD-UK 7 95446040 95446040 single base substitution T A intron_variant ESAD-UK 7 95447224 95447224 single base substitution G A downstream_gene_variant ESAD-UK 7 95447224 95447224 single base substitution G A intron_variant ESAD-UK 7 95447681 95447681 single base substitution T G intron_variant ESAD-UK 7 95448232 95448232 single base substitution A C 3_prime_UTR_variant ESAD-UK 7 95448232 95448232 single base substitution A C intron_variant ESAD-UK 7 95448902 95448902 single base substitution G T downstream_gene_variant ESAD-UK 7 95448902 95448902 single base substitution G T intron_variant ESAD-UK 7 95449028 95449028 single base substitution T G downstream_gene_variant ESAD-UK 7 95449028 95449028 single base substitution T G intron_variant ESAD-UK 7 95449706 95449706 single base substitution G A downstream_gene_variant ESAD-UK 7 95449706 95449706 single base substitution G A intron_variant ESAD-UK 7 95450087 95450087 single base substitution G T downstream_gene_variant ESAD-UK 7 95450087 95450087 single base substitution G T intron_variant ESAD-UK 7 95450371 95450371 single base substitution A T downstream_gene_variant ESAD-UK 7 95450371 95450371 single base substitution A T intron_variant ESAD-UK 7 95451118 95451118 single base substitution T C downstream_gene_variant ESAD-UK 7 95451118 95451118 single base substitution T C intron_variant ESAD-UK 7 95451375 95451375 single base substitution A T downstream_gene_variant ESAD-UK 7 95451375 95451375 single base substitution A T intron_variant ESAD-UK 7 95451635 95451635 single base substitution C T downstream_gene_variant ESAD-UK 7 95451635 95451635 single base substitution C T intron_variant ESAD-UK 7 95451958 95451958 single base substitution A G downstream_gene_variant ESAD-UK 7 95451958 95451958 single base substitution A G intron_variant ESAD-UK 7 95452069 95452069 single base substitution C G downstream_gene_variant ESAD-UK 7 95452069 95452069 single base substitution C G intron_variant ESAD-UK 7 95452098 95452098 single base substitution G A downstream_gene_variant ESAD-UK 7 95452098 95452098 single base substitution G A intron_variant ESAD-UK 7 95452255 95452255 single base substitution G T downstream_gene_variant ESAD-UK 7 95452255 95452255 single base substitution G T intron_variant ESAD-UK 7 95452822 95452822 single base substitution G A downstream_gene_variant ESAD-UK 7 95452822 95452822 single base substitution G A intron_variant ESAD-UK 7 95452959 95452959 single base substitution C T downstream_gene_variant ESAD-UK 7 95452959 95452959 single base substitution C T intron_variant ESAD-UK 7 95454557 95454557 single base substitution T G intron_variant ESAD-UK 7 95454730 95454730 single base substitution T A intron_variant ESAD-UK 7 95456779 95456779 single base substitution C T intron_variant ESAD-UK 7 95457922 95457922 single base substitution A T downstream_gene_variant ESAD-UK 7 95457922 95457922 single base substitution A T intron_variant ESAD-UK 7 95459891 95459891 single base substitution C T downstream_gene_variant ESAD-UK 7 95459891 95459891 single base substitution C T intron_variant ESAD-UK 7 95459906 95459906 single base substitution G A downstream_gene_variant ESAD-UK 7 95459906 95459906 single base substitution G A intron_variant ESAD-UK 7 95460416 95460416 single base substitution C T downstream_gene_variant ESAD-UK 7 95460416 95460416 single base substitution C T intron_variant ESAD-UK 7 95461226 95461226 single base substitution T A downstream_gene_variant ESAD-UK 7 95461226 95461226 single base substitution T A intron_variant ESAD-UK 7 95461262 95461262 single base substitution C G downstream_gene_variant ESAD-UK 7 95461262 95461262 single base substitution C G intron_variant ESAD-UK 7 95467136 95467136 single base substitution G A intron_variant ESAD-UK 7 95468097 95468097 single base substitution A C intron_variant ESAD-UK 7 95468104 95468104 single base substitution G C intron_variant ESAD-UK 7 95468399 95468399 single base substitution G A intron_variant ESAD-UK 7 95468895 95468895 single base substitution A G intron_variant ESAD-UK 7 95468944 95468944 single base substitution T C intron_variant ESAD-UK 7 95469271 95469271 single base substitution C A intron_variant ESAD-UK 7 95471579 95471579 single base substitution C A intron_variant ESAD-UK 7 95471661 95471661 single base substitution A C intron_variant ESAD-UK 7 95471874 95471874 single base substitution A G intron_variant ESAD-UK 7 95472200 95472200 single base substitution G A intron_variant ESAD-UK 7 95472413 95472413 single base substitution T G intron_variant ESAD-UK 7 95472618 95472618 single base substitution G T intron_variant ESAD-UK 7 95473432 95473432 single base substitution A C intron_variant ESAD-UK 7 95473903 95473903 single base substitution G A intron_variant ESAD-UK 7 95474811 95474811 single base substitution A C intron_variant ESAD-UK 7 95475323 95475323 single base substitution T A intron_variant ESAD-UK 7 95475907 95475907 single base substitution C G intron_variant ESAD-UK 7 95477780 95477780 single base substitution G C intron_variant ESAD-UK 7 95479283 95479283 single base substitution G T intron_variant ESAD-UK 7 95479309 95479309 deletion of <=200bp T - intron_variant ESAD-UK 7 95479627 95479627 single base substitution C T intron_variant ESAD-UK 7 95479759 95479759 single base substitution C T intron_variant ESAD-UK 7 95480446 95480446 single base substitution T G intron_variant ESAD-UK 7 95480838 95480838 single base substitution G A intron_variant ESAD-UK 7 95481795 95481795 single base substitution C A intron_variant ESAD-UK 7 95482025 95482025 single base substitution G A intron_variant ESAD-UK 7 95483990 95483990 single base substitution A G intron_variant ESAD-UK 7 95484125 95484125 insertion of <=200bp - A intron_variant ESAD-UK 7 95484140 95484140 single base substitution G A intron_variant ESAD-UK 7 95485066 95485066 single base substitution G A intron_variant ESAD-UK 7 95485660 95485660 single base substitution T A intron_variant ESAD-UK 7 95486206 95486206 single base substitution G A intron_variant ESAD-UK 7 95486511 95486511 single base substitution T C intron_variant ESAD-UK 7 95487578 95487578 single base substitution A G intron_variant ESAD-UK 7 95487737 95487737 deletion of <=200bp T - intron_variant ESAD-UK 7 95488560 95488560 single base substitution T A intron_variant ESAD-UK 7 95488811 95488811 single base substitution G C intron_variant ESAD-UK 7 95490182 95490182 single base substitution C T intron_variant ESAD-UK 7 95490688 95490704 deletion of <=200bp AAACAAAATATTCAACT - intron_variant ESAD-UK 7 95490935 95490935 single base substitution T G intron_variant ESAD-UK 7 95491408 95491408 single base substitution T G intron_variant ESAD-UK 7 95492908 95492908 single base substitution C T intron_variant ESAD-UK 7 95493143 95493143 single base substitution G A intron_variant ESAD-UK 7 95494446 95494446 single base substitution G C intron_variant ESAD-UK 7 95494473 95494473 single base substitution T G intron_variant ESAD-UK 7 95496113 95496113 single base substitution C T intron_variant ESAD-UK 7 95497236 95497236 single base substitution T G intron_variant ESAD-UK 7 95498207 95498207 single base substitution T G intron_variant ESAD-UK 7 95499213 95499213 single base substitution G T exon_variant ESAD-UK 7 95499213 95499213 single base substitution G T synonymous_variant L111L 333G>T ESAD-UK 7 95499213 95499213 single base substitution G T synonymous_variant L128L 384G>T ESAD-UK 7 95499213 95499213 single base substitution G T synonymous_variant L131L 393G>T ESAD-UK 7 95499213 95499213 single base substitution G T synonymous_variant L148L 444G>T ESAD-UK 7 95500105 95500105 single base substitution A C intron_variant ESAD-UK 7 95501292 95501292 single base substitution A C intron_variant ESAD-UK 7 95502311 95502311 single base substitution C T intron_variant ESAD-UK 7 95502467 95502467 single base substitution T C intron_variant ESAD-UK 7 95502663 95502663 single base substitution A C intron_variant ESAD-UK 7 95502900 95502900 single base substitution C G intron_variant ESAD-UK 7 95503191 95503191 single base substitution A C intron_variant ESAD-UK 7 95503755 95503755 deletion of <=200bp A - intron_variant ESAD-UK 7 95504444 95504444 single base substitution A C intron_variant ESAD-UK 7 95505249 95505249 single base substitution C T intron_variant ESAD-UK 7 95505850 95505850 insertion of <=200bp - A intron_variant ESAD-UK 7 95506184 95506184 single base substitution A C intron_variant ESAD-UK 7 95506205 95506205 single base substitution G A intron_variant ESAD-UK 7 95506335 95506335 single base substitution G A intron_variant ESAD-UK 7 95506839 95506839 single base substitution A C intron_variant ESAD-UK 7 95508671 95508671 single base substitution T A intron_variant ESAD-UK 7 95509330 95509330 single base substitution A C intron_variant ESAD-UK 7 95509354 95509354 single base substitution A T intron_variant ESAD-UK 7 95510142 95510142 single base substitution G A intron_variant ESAD-UK 7 95510278 95510278 deletion of <=200bp T - intron_variant ESAD-UK 7 95511166 95511166 single base substitution T G intron_variant ESAD-UK 7 95511663 95511663 single base substitution T C intron_variant ESAD-UK 7 95513135 95513135 single base substitution A G intron_variant ESAD-UK 7 95514917 95514917 single base substitution A C intron_variant ESAD-UK 7 95515013 95515013 single base substitution C A intron_variant ESAD-UK 7 95515095 95515095 single base substitution G A intron_variant ESAD-UK 7 95517432 95517432 single base substitution G A intron_variant ESAD-UK 7 95517760 95517760 single base substitution G T intron_variant ESAD-UK 7 95517998 95517998 single base substitution C T intron_variant ESAD-UK 7 95518095 95518095 single base substitution G T intron_variant ESAD-UK 7 95518103 95518103 single base substitution T G intron_variant ESAD-UK 7 95518491 95518491 single base substitution A C intron_variant ESAD-UK 7 95518701 95518701 single base substitution T G intron_variant ESAD-UK 7 95519623 95519623 single base substitution T G intron_variant ESAD-UK 7 95520546 95520546 single base substitution A C intron_variant ESAD-UK 7 95520568 95520568 single base substitution C T intron_variant ESAD-UK 7 95520607 95520607 single base substitution G A intron_variant ESAD-UK 7 95520857 95520857 single base substitution T A intron_variant ESAD-UK 7 95521406 95521406 single base substitution A T intron_variant ESAD-UK 7 95522911 95522911 single base substitution T G intron_variant ESAD-UK 7 95523989 95523989 single base substitution A C intron_variant ESAD-UK 7 95524079 95524079 single base substitution T C intron_variant ESAD-UK 7 95524208 95524208 single base substitution T C intron_variant ESAD-UK 7 95525027 95525027 single base substitution A C intron_variant ESAD-UK 7 95525260 95525260 single base substitution G A intron_variant ESAD-UK 7 95528306 95528306 insertion of <=200bp - A intron_variant ESAD-UK 7 95528489 95528489 single base substitution A G intron_variant ESAD-UK 7 95528711 95528711 single base substitution T G intron_variant ESAD-UK 7 95529856 95529856 single base substitution C T intron_variant ESAD-UK 7 95530582 95530582 single base substitution T G intron_variant ESAD-UK 7 95531738 95531738 single base substitution T C intron_variant ESAD-UK 7 95531963 95531963 deletion of <=200bp T - intron_variant ESAD-UK 7 95533075 95533075 single base substitution C T intron_variant ESAD-UK 7 95533722 95533722 single base substitution A G intron_variant ESAD-UK 7 95534402 95534402 single base substitution T A intron_variant ESAD-UK 7 95534667 95534667 single base substitution A G intron_variant ESAD-UK 7 95534705 95534705 single base substitution C A intron_variant ESAD-UK 7 95534799 95534799 single base substitution A G intron_variant ESAD-UK 7 95534988 95534988 single base substitution C A intron_variant ESAD-UK 7 95535749 95535749 deletion of <=200bp T - intron_variant ESAD-UK 7 95537739 95537739 single base substitution A G intron_variant ESAD-UK 7 95538195 95538195 single base substitution G A intron_variant ESAD-UK 7 95539581 95539581 single base substitution A C intron_variant ESAD-UK 7 95540254 95540254 single base substitution T A intron_variant ESAD-UK 7 95540302 95540302 single base substitution G T intron_variant ESAD-UK 7 95540836 95540836 single base substitution A C intron_variant ESAD-UK 7 95542237 95542237 single base substitution A G intron_variant ESAD-UK 7 95545716 95545716 single base substitution T C intron_variant ESAD-UK 7 95546068 95546068 single base substitution A C intron_variant ESAD-UK 7 95546069 95546069 insertion of <=200bp - G intron_variant ESAD-UK 7 95546069 95546069 single base substitution A C intron_variant ESAD-UK 7 95546071 95546071 single base substitution A C intron_variant ESAD-UK 7 95546078 95546078 single base substitution G C intron_variant ESAD-UK 7 95546080 95546080 single base substitution A G intron_variant ESAD-UK 7 95546082 95546082 single base substitution A T intron_variant ESAD-UK 7 95546098 95546098 single base substitution A G intron_variant ESAD-UK 7 95546537 95546537 single base substitution G T intron_variant ESAD-UK 7 95546991 95546991 single base substitution G A intron_variant ESAD-UK 7 95547088 95547088 single base substitution G A intron_variant ESAD-UK 7 95547772 95547772 single base substitution C A intron_variant ESAD-UK 7 95547910 95547910 insertion of <=200bp - T intron_variant ESAD-UK 7 95548057 95548057 single base substitution C T intron_variant ESAD-UK 7 95549949 95549949 single base substitution C T intron_variant ESAD-UK 7 95553106 95553106 single base substitution C A intron_variant ESAD-UK 7 95554070 95554070 single base substitution T G intron_variant ESAD-UK 7 95560628 95560628 single base substitution A C intron_variant ESAD-UK 7 95562960 95562960 single base substitution A C intron_variant ESAD-UK 7 95563027 95563027 single base substitution T A intron_variant ESAD-UK 7 95563028 95563028 insertion of <=200bp - A intron_variant ESAD-UK 7 95563047 95563047 single base substitution A C intron_variant ESAD-UK 7 95563457 95563457 single base substitution G A intron_variant ESAD-UK 7 95563793 95563793 single base substitution G C intron_variant ESAD-UK 7 95564236 95564236 single base substitution T G intron_variant ESAD-UK 7 95574324 95574324 single base substitution T G intron_variant ESAD-UK 7 95575706 95575706 single base substitution G A intron_variant ESAD-UK 7 95576400 95576400 single base substitution A G intron_variant ESAD-UK 7 95577209 95577209 single base substitution A C intron_variant ESAD-UK 7 95577878 95577878 single base substitution G A intron_variant ESAD-UK 7 95579202 95579202 single base substitution G C intron_variant ESAD-UK 7 95581638 95581638 single base substitution A G intron_variant ESAD-UK 7 95582052 95582052 deletion of <=200bp A - intron_variant ESAD-UK 7 95582846 95582846 single base substitution T G intron_variant ESAD-UK 7 95582930 95582930 single base substitution C T intron_variant ESAD-UK 7 95584979 95584979 single base substitution C A intron_variant ESAD-UK 7 95585847 95585847 deletion of <=200bp C - intron_variant ESAD-UK 7 95586277 95586277 single base substitution C T intron_variant ESAD-UK 7 95586455 95586455 single base substitution A G intron_variant ESAD-UK 7 95587089 95587089 single base substitution T G intron_variant ESAD-UK 7 95589336 95589336 single base substitution G T intron_variant ESAD-UK 7 95589938 95589938 single base substitution T G intron_variant ESAD-UK 7 95590607 95590607 single base substitution A G intron_variant ESAD-UK 7 95599406 95599406 single base substitution C T intron_variant ESAD-UK 7 95599544 95599544 single base substitution G A intron_variant ESAD-UK 7 95600024 95600024 single base substitution C T intron_variant ESAD-UK 7 95600928 95600928 single base substitution T G intron_variant ESAD-UK 7 95601660 95601660 single base substitution T G intron_variant ESAD-UK 7 95602983 95602983 single base substitution A G intron_variant ESAD-UK 7 95604090 95604090 single base substitution C T intron_variant ESAD-UK 7 95605068 95605068 single base substitution T C intron_variant ESAD-UK 7 95605277 95605277 insertion of <=200bp - TG intron_variant ESAD-UK 7 95605717 95605717 single base substitution T C intron_variant ESAD-UK 7 95606056 95606056 single base substitution T A intron_variant ESAD-UK 7 95606057 95606057 single base substitution C A intron_variant ESAD-UK 7 95606093 95606093 single base substitution A G intron_variant ESAD-UK 7 95607400 95607400 single base substitution G T intron_variant ESAD-UK 7 95609776 95609776 single base substitution T G intron_variant ESAD-UK 7 95612815 95612815 single base substitution G T intron_variant ESAD-UK 7 95615237 95615237 deletion of <=200bp T - intron_variant ESAD-UK 7 95617355 95617355 single base substitution C A intron_variant ESAD-UK 7 95617734 95617734 single base substitution G A intron_variant ESAD-UK 7 95618195 95618195 single base substitution G C intron_variant ESAD-UK 7 95618867 95618867 single base substitution C G intron_variant ESAD-UK 7 95620700 95620700 single base substitution A G intron_variant ESAD-UK 7 95622438 95622438 deletion of <=200bp G - intron_variant ESAD-UK 7 95623857 95623857 single base substitution G C intron_variant ESAD-UK 7 95624197 95624197 single base substitution A C intron_variant ESAD-UK 7 95624609 95624609 single base substitution G C intron_variant ESAD-UK 7 95625962 95625962 single base substitution G A intron_variant ESAD-UK 7 95626976 95626976 deletion of <=200bp T - intron_variant ESAD-UK 7 95627042 95627042 single base substitution A T intron_variant ESAD-UK 7 95627577 95627577 single base substitution G A intron_variant ESAD-UK 7 95628039 95628039 single base substitution G A intron_variant ESAD-UK 7 95628420 95628420 single base substitution C T intron_variant ESAD-UK 7 95630164 95630164 single base substitution C T intron_variant ESAD-UK 7 95630587 95630587 single base substitution T G intron_variant ESAD-UK 7 95630658 95630658 single base substitution A C intron_variant ESAD-UK 7 95632057 95632057 single base substitution G T intron_variant ESAD-UK 7 95632142 95632142 deletion of <=200bp T - intron_variant ESAD-UK 7 95632153 95632153 deletion of <=200bp T - intron_variant ESAD-UK 7 95632982 95632982 single base substitution C T intron_variant ESAD-UK 7 95635548 95635548 single base substitution T A intron_variant ESAD-UK 7 95638092 95638092 deletion of <=200bp A - intron_variant ESAD-UK 7 95638233 95638233 single base substitution A G intron_variant ESAD-UK 7 95638889 95638889 single base substitution T C intron_variant ESAD-UK 7 95639167 95639167 single base substitution C G intron_variant ESAD-UK 7 95640911 95640911 single base substitution A C intron_variant ESAD-UK 7 95641722 95641722 single base substitution G A intron_variant ESAD-UK 7 95642137 95642137 single base substitution G C intron_variant ESAD-UK 7 95642192 95642192 insertion of <=200bp - T intron_variant ESAD-UK 7 95642745 95642745 single base substitution G T intron_variant ESAD-UK 7 95644834 95644834 deletion of <=200bp C - intron_variant ESAD-UK 7 95644834 95644834 insertion of <=200bp - C intron_variant ESAD-UK 7 95645062 95645062 single base substitution G A intron_variant ESAD-UK 7 95645161 95645161 single base substitution A C intron_variant ESAD-UK 7 95645262 95645262 single base substitution A G intron_variant ESAD-UK 7 95645360 95645360 single base substitution T C intron_variant ESAD-UK 7 95645915 95645915 insertion of <=200bp - T intron_variant ESAD-UK 7 95646044 95646044 deletion of <=200bp T - intron_variant ESAD-UK 7 95648698 95648698 single base substitution T G intron_variant ESAD-UK 7 95648754 95648754 single base substitution C T intron_variant ESAD-UK 7 95654347 95654347 single base substitution T A intron_variant ESAD-UK 7 95655743 95655743 single base substitution T G intron_variant ESAD-UK 7 95655879 95655879 single base substitution C A intron_variant ESAD-UK 7 95657579 95657579 single base substitution C T exon_variant ESAD-UK 7 95657579 95657579 single base substitution C T synonymous_variant R334R 1002C>T ESAD-UK 7 95657579 95657579 single base substitution C T synonymous_variant R351R 1053C>T ESAD-UK 7 95657579 95657579 single base substitution C T synonymous_variant R354R 1062C>T ESAD-UK 7 95657579 95657579 single base substitution C T synonymous_variant R371R 1113C>T ESAD-UK 7 95657579 95657579 single base substitution C T upstream_gene_variant ESAD-UK 7 95659073 95659073 single base substitution A C downstream_gene_variant ESAD-UK 7 95659073 95659073 single base substitution A C intron_variant ESAD-UK 7 95659073 95659073 single base substitution A C upstream_gene_variant ESAD-UK 7 95663334 95663334 insertion of <=200bp - ATT intron_variant ESAD-UK 7 95663454 95663454 single base substitution T A intron_variant ESAD-UK 7 95664956 95664956 single base substitution A G exon_variant ESAD-UK 7 95664956 95664956 single base substitution A G missense_variant K399R 1196A>G ESAD-UK 7 95664956 95664956 single base substitution A G missense_variant K416R 1247A>G ESAD-UK 7 95664956 95664956 single base substitution A G missense_variant K419R 1256A>G ESAD-UK 7 95664956 95664956 single base substitution A G missense_variant K436R 1307A>G ESAD-UK 7 95666507 95666507 single base substitution T C intron_variant ESAD-UK 7 95666700 95666700 single base substitution C T intron_variant ESAD-UK 7 95670498 95670498 single base substitution C A intron_variant ESAD-UK 7 95670550 95670550 single base substitution C T intron_variant ESAD-UK 7 95671462 95671462 single base substitution T C intron_variant ESAD-UK 7 95671736 95671736 single base substitution T G intron_variant ESAD-UK 7 95674228 95674228 single base substitution A G intron_variant ESAD-UK 7 95677334 95677334 single base substitution G C intron_variant ESAD-UK 7 95677393 95677393 single base substitution C T intron_variant ESAD-UK 7 95677942 95677942 single base substitution C T intron_variant ESAD-UK 7 95678024 95678024 single base substitution C A intron_variant ESAD-UK 7 95678054 95678054 single base substitution A G intron_variant ESAD-UK 7 95679194 95679194 single base substitution A C intron_variant ESAD-UK 7 95679472 95679472 single base substitution C T intron_variant ESAD-UK 7 95680163 95680163 insertion of <=200bp - A intron_variant ESAD-UK 7 95680869 95680869 single base substitution G T intron_variant ESAD-UK 7 95680941 95680941 insertion of <=200bp - A intron_variant ESAD-UK 7 95681059 95681059 single base substitution G A intron_variant ESAD-UK 7 95682730 95682730 single base substitution C T intron_variant ESAD-UK 7 95683193 95683193 insertion of <=200bp - A intron_variant ESAD-UK 7 95683949 95683949 single base substitution T C intron_variant ESAD-UK 7 95684760 95684760 single base substitution T C intron_variant ESAD-UK 7 95684783 95684783 single base substitution G A intron_variant ESAD-UK 7 95685996 95685996 single base substitution C A downstream_gene_variant ESAD-UK 7 95685996 95685996 single base substitution C A intron_variant ESAD-UK 7 95686607 95686607 single base substitution C A downstream_gene_variant ESAD-UK 7 95686607 95686607 single base substitution C A intron_variant ESAD-UK 7 95687565 95687565 single base substitution G A downstream_gene_variant ESAD-UK 7 95687565 95687565 single base substitution G A intron_variant ESAD-UK 7 95688881 95688881 single base substitution G C downstream_gene_variant ESAD-UK 7 95688881 95688881 single base substitution G C intron_variant ESAD-UK 7 95689376 95689376 single base substitution A G downstream_gene_variant ESAD-UK 7 95689376 95689376 single base substitution A G intron_variant ESAD-UK 7 95690243 95690243 single base substitution G A downstream_gene_variant ESAD-UK 7 95690243 95690243 single base substitution G A intron_variant ESAD-UK 7 95691757 95691757 single base substitution C A intron_variant ESAD-UK 7 95692279 95692279 single base substitution C G intron_variant ESAD-UK 7 95692518 95692518 single base substitution G A intron_variant ESAD-UK 7 95692644 95692644 single base substitution C T intron_variant ESAD-UK 7 95694165 95694165 single base substitution A T intron_variant ESAD-UK 7 95694227 95694227 single base substitution G A intron_variant ESAD-UK 7 95694994 95694994 single base substitution C T intron_variant ESAD-UK 7 95695578 95695578 single base substitution T G intron_variant ESAD-UK 7 95698303 95698303 single base substitution T C intron_variant ESAD-UK 7 95698577 95698577 single base substitution G A intron_variant ESAD-UK 7 95699810 95699810 single base substitution T A intron_variant ESAD-UK 7 95701105 95701105 single base substitution A G intron_variant ESAD-UK 7 95704263 95704263 deletion of <=200bp A - intron_variant ESAD-UK 7 95704364 95704364 single base substitution A G intron_variant ESAD-UK 7 95705659 95705659 single base substitution G A intron_variant ESAD-UK 7 95707118 95707118 insertion of <=200bp - T intron_variant ESAD-UK 7 95708367 95708367 single base substitution G C intron_variant ESAD-UK 7 95710121 95710121 single base substitution C T intron_variant ESAD-UK 7 95712695 95712695 single base substitution G A intron_variant ESAD-UK 7 95716286 95716286 deletion of <=200bp T - intron_variant ESAD-UK 7 95719099 95719099 single base substitution C G intron_variant ESAD-UK 7 95719687 95719687 single base substitution G C intron_variant ESAD-UK 7 95722534 95722534 single base substitution T G intron_variant ESAD-UK 7 95722750 95722750 single base substitution C A intron_variant ESAD-UK 7 95724680 95724680 single base substitution T A intron_variant ESAD-UK 7 95725338 95725338 single base substitution T G intron_variant ESAD-UK 7 95726983 95726983 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 95726983 95726983 single base substitution C T intron_variant ESAD-UK 7 95726984 95726984 single base substitution G C 3_prime_UTR_variant ESAD-UK 7 95726984 95726984 single base substitution G C intron_variant ESAD-UK 7 95727462 95727462 single base substitution G T 3_prime_UTR_variant ESAD-UK 7 95727462 95727462 single base substitution G T downstream_gene_variant ESAD-UK 7 95727462 95727462 single base substitution G T intron_variant ESAD-UK 7 95732195 95732195 single base substitution G T downstream_gene_variant ESAD-UK 7 95732195 95732195 single base substitution G T intron_variant ESAD-UK 7 95732687 95732687 single base substitution A C downstream_gene_variant ESAD-UK 7 95732687 95732687 single base substitution A C intron_variant ESAD-UK 7 95734286 95734286 single base substitution G T intron_variant ESAD-UK 7 95735734 95735734 single base substitution C G intron_variant ESAD-UK 7 95735797 95735797 single base substitution A T intron_variant ESAD-UK 7 95735937 95735937 single base substitution C A intron_variant ESAD-UK 7 95736036 95736036 single base substitution C A intron_variant ESAD-UK 7 95737129 95737129 single base substitution C T intron_variant ESAD-UK 7 95737660 95737660 single base substitution C T intron_variant ESAD-UK 7 95743166 95743166 single base substitution G A downstream_gene_variant ESAD-UK 7 95743605 95743605 single base substitution G A downstream_gene_variant ESCA-CN 7 95661938 95661938 single base substitution C A downstream_gene_variant ESCA-CN 7 95661938 95661938 single base substitution C A intron_variant ESCA-CN 7 95661938 95661938 single base substitution C A upstream_gene_variant GBM-US 7 95442583 95442583 single base substitution C T missense_variant S100L 299C>T GBM-US 7 95442583 95442583 single base substitution C T missense_variant S83L 248C>T GBM-US 7 95457400 95457400 single base substitution C T intron_variant GBM-US 7 95457400 95457400 single base substitution C T missense_variant L116F 346C>T GBM-US 7 95457400 95457400 single base substitution C T missense_variant L133F 397C>T GBM-US 7 95499217 95499217 single base substitution G A exon_variant GBM-US 7 95499217 95499217 single base substitution G A missense_variant V113M 337G>A GBM-US 7 95499217 95499217 single base substitution G A missense_variant V130M 388G>A GBM-US 7 95499217 95499217 single base substitution G A missense_variant V133M 397G>A GBM-US 7 95499217 95499217 single base substitution G A missense_variant V150M 448G>A GBM-US 7 95616403 95616403 single base substitution G A exon_variant GBM-US 7 95616403 95616403 single base substitution G A missense_variant R240H 719G>A GBM-US 7 95616403 95616403 single base substitution G A missense_variant R257H 770G>A GBM-US 7 95616403 95616403 single base substitution G A missense_variant R260H 779G>A GBM-US 7 95616403 95616403 single base substitution G A missense_variant R277H 830G>A GBM-US 7 95657586 95657586 single base substitution C T exon_variant GBM-US 7 95657586 95657586 single base substitution C T stop_gained R337* 1009C>T GBM-US 7 95657586 95657586 single base substitution C T stop_gained R354* 1060C>T GBM-US 7 95657586 95657586 single base substitution C T stop_gained R357* 1069C>T GBM-US 7 95657586 95657586 single base substitution C T stop_gained R374* 1120C>T GBM-US 7 95657586 95657586 single base substitution C T upstream_gene_variant GBM-US 7 95664970 95664970 single base substitution G A exon_variant GBM-US 7 95664970 95664970 single base substitution G A missense_variant A404T 1210G>A GBM-US 7 95664970 95664970 single base substitution G A missense_variant A421T 1261G>A GBM-US 7 95664970 95664970 single base substitution G A missense_variant A424T 1270G>A GBM-US 7 95664970 95664970 single base substitution G A missense_variant A441T 1321G>A GBM-US 7 95665015 95665015 single base substitution G A exon_variant GBM-US 7 95665015 95665015 single base substitution G A missense_variant V419M 1255G>A GBM-US 7 95665015 95665015 single base substitution G A missense_variant V436M 1306G>A GBM-US 7 95665015 95665015 single base substitution G A missense_variant V439M 1315G>A GBM-US 7 95665015 95665015 single base substitution G A missense_variant V456M 1366G>A KIRP-US 7 95668696 95668696 single base substitution C T exon_variant KIRP-US 7 95668696 95668696 single base substitution C T missense_variant S471L 1412C>T KIRP-US 7 95668696 95668696 single base substitution C T missense_variant S488L 1463C>T KIRP-US 7 95668696 95668696 single base substitution C T missense_variant S491L 1472C>T KIRP-US 7 95668696 95668696 single base substitution C T missense_variant S508L 1523C>T LAML-KR 7 95413590 95413590 single base substitution T C intron_variant LAML-KR 7 95442420 95442420 single base substitution C T intron_variant LAML-KR 7 95457160 95457160 single base substitution C T intron_variant LAML-KR 7 95457603 95457603 single base substitution G C downstream_gene_variant LAML-KR 7 95457603 95457603 single base substitution G C intron_variant LAML-KR 7 95466476 95466476 single base substitution G C intron_variant LAML-KR 7 95466476 95466476 single base substitution G C upstream_gene_variant LAML-KR 7 95466782 95466782 single base substitution C T intron_variant LAML-KR 7 95466782 95466782 single base substitution C T upstream_gene_variant LAML-KR 7 95466823 95466823 single base substitution C T intron_variant LAML-KR 7 95466823 95466823 single base substitution C T upstream_gene_variant LAML-KR 7 95572469 95572469 single base substitution T G intron_variant LAML-KR 7 95698525 95698525 single base substitution C T intron_variant LGG-US 7 95657551 95657551 single base substitution C T exon_variant LGG-US 7 95657551 95657551 single base substitution C T missense_variant S325L 974C>T LGG-US 7 95657551 95657551 single base substitution C T missense_variant S342L 1025C>T LGG-US 7 95657551 95657551 single base substitution C T missense_variant S345L 1034C>T LGG-US 7 95657551 95657551 single base substitution C T missense_variant S362L 1085C>T LGG-US 7 95657551 95657551 single base substitution C T upstream_gene_variant LGG-US 7 95657632 95657632 single base substitution C T exon_variant LGG-US 7 95657632 95657632 single base substitution C T missense_variant T352M 1055C>T LGG-US 7 95657632 95657632 single base substitution C T missense_variant T369M 1106C>T LGG-US 7 95657632 95657632 single base substitution C T missense_variant T372M 1115C>T LGG-US 7 95657632 95657632 single base substitution C T missense_variant T389M 1166C>T LGG-US 7 95657632 95657632 single base substitution C T upstream_gene_variant LICA-CN 7 95616441 95616441 single base substitution G T exon_variant LICA-CN 7 95616441 95616441 single base substitution G T missense_variant V253F 757G>T LICA-CN 7 95616441 95616441 single base substitution G T missense_variant V270F 808G>T LICA-CN 7 95616441 95616441 single base substitution G T missense_variant V273F 817G>T LICA-CN 7 95616441 95616441 single base substitution G T missense_variant V290F 868G>T LICA-FR 7 95401461 95401461 single base substitution C G upstream_gene_variant LICA-FR 7 95404299 95404299 single base substitution T C intron_variant LICA-FR 7 95405936 95405936 single base substitution C G intron_variant LICA-FR 7 95432732 95432732 single base substitution A G intron_variant LICA-FR 7 95432732 95432732 single base substitution A G upstream_gene_variant LICA-FR 7 95434080 95434080 single base substitution C T synonymous_variant R13R 39C>T LICA-FR 7 95459788 95459788 single base substitution C T downstream_gene_variant LICA-FR 7 95459788 95459788 single base substitution C T intron_variant LICA-FR 7 95461217 95461217 single base substitution T C downstream_gene_variant LICA-FR 7 95461217 95461217 single base substitution T C intron_variant LICA-FR 7 95462352 95462352 single base substitution A T downstream_gene_variant LICA-FR 7 95462352 95462352 single base substitution A T intron_variant LICA-FR 7 95462352 95462352 single base substitution A T upstream_gene_variant LICA-FR 7 95463280 95463280 single base substitution G C intron_variant LICA-FR 7 95463280 95463280 single base substitution G C upstream_gene_variant LICA-FR 7 95463485 95463485 single base substitution A T intron_variant LICA-FR 7 95463485 95463485 single base substitution A T upstream_gene_variant LICA-FR 7 95464463 95464463 single base substitution C T intron_variant LICA-FR 7 95464463 95464463 single base substitution C T upstream_gene_variant LICA-FR 7 95464467 95464467 single base substitution C G intron_variant LICA-FR 7 95464467 95464467 single base substitution C G upstream_gene_variant LICA-FR 7 95466837 95466837 single base substitution A G intron_variant LICA-FR 7 95466837 95466837 single base substitution A G upstream_gene_variant LICA-FR 7 95467022 95467022 single base substitution G T intron_variant LICA-FR 7 95467140 95467140 single base substitution C A intron_variant LICA-FR 7 95475439 95475439 single base substitution G T intron_variant LICA-FR 7 95484526 95484526 single base substitution A G intron_variant LICA-FR 7 95499217 95499217 single base substitution G A exon_variant LICA-FR 7 95499217 95499217 single base substitution G A missense_variant V113M 337G>A LICA-FR 7 95499217 95499217 single base substitution G A missense_variant V130M 388G>A LICA-FR 7 95499217 95499217 single base substitution G A missense_variant V133M 397G>A LICA-FR 7 95499217 95499217 single base substitution G A missense_variant V150M 448G>A LICA-FR 7 95503159 95503159 single base substitution T C intron_variant LICA-FR 7 95506572 95506572 single base substitution C A intron_variant LICA-FR 7 95521888 95521888 single base substitution G A intron_variant LICA-FR 7 95527309 95527309 single base substitution A G intron_variant LICA-FR 7 95531090 95531090 single base substitution G T intron_variant LICA-FR 7 95534863 95534863 single base substitution C A intron_variant LICA-FR 7 95548464 95548464 single base substitution T C intron_variant LICA-FR 7 95560117 95560117 single base substitution A G intron_variant LICA-FR 7 95569599 95569599 single base substitution C G intron_variant LICA-FR 7 95569636 95569636 single base substitution C T intron_variant LICA-FR 7 95569726 95569726 single base substitution C T intron_variant LICA-FR 7 95569730 95569730 single base substitution G A intron_variant LICA-FR 7 95572319 95572319 single base substitution G T intron_variant LICA-FR 7 95572330 95572330 single base substitution A G intron_variant LICA-FR 7 95572633 95572633 single base substitution A G intron_variant LICA-FR 7 95572675 95572675 single base substitution G A intron_variant LICA-FR 7 95572773 95572773 single base substitution T C intron_variant LICA-FR 7 95572933 95572933 single base substitution T C intron_variant LICA-FR 7 95592097 95592097 single base substitution C T intron_variant LICA-FR 7 95595049 95595049 single base substitution A G intron_variant LICA-FR 7 95612129 95612129 single base substitution G C intron_variant LICA-FR 7 95614191 95614191 single base substitution C T exon_variant LICA-FR 7 95614191 95614191 single base substitution C T synonymous_variant I195I 585C>T LICA-FR 7 95614191 95614191 single base substitution C T synonymous_variant I212I 636C>T LICA-FR 7 95614191 95614191 single base substitution C T synonymous_variant I215I 645C>T LICA-FR 7 95614191 95614191 single base substitution C T synonymous_variant I232I 696C>T LICA-FR 7 95626641 95626641 single base substitution A G intron_variant LICA-FR 7 95627569 95627569 single base substitution C T intron_variant LICA-FR 7 95630946 95630946 single base substitution T C intron_variant LICA-FR 7 95641914 95641914 single base substitution C G intron_variant LICA-FR 7 95650147 95650147 single base substitution C A intron_variant LICA-FR 7 95668628 95668628 single base substitution G A exon_variant LICA-FR 7 95668628 95668628 single base substitution G A synonymous_variant G448G 1344G>A LICA-FR 7 95668628 95668628 single base substitution G A synonymous_variant G465G 1395G>A LICA-FR 7 95668628 95668628 single base substitution G A synonymous_variant G468G 1404G>A LICA-FR 7 95668628 95668628 single base substitution G A synonymous_variant G485G 1455G>A LICA-FR 7 95684151 95684151 single base substitution A G intron_variant LICA-FR 7 95688603 95688603 single base substitution G T downstream_gene_variant LICA-FR 7 95688603 95688603 single base substitution G T intron_variant LICA-FR 7 95690966 95690967 deletion of <=200bp TC - intron_variant LICA-FR 7 95697078 95697078 single base substitution T C intron_variant LICA-FR 7 95713632 95713632 insertion of <=200bp - AA intron_variant LICA-FR 7 95738173 95738173 deletion of <=200bp A - intron_variant LICA-FR 7 95740930 95740930 single base substitution A G downstream_gene_variant LIHC-US 7 95614244 95614244 single base substitution A G exon_variant LIHC-US 7 95614244 95614244 single base substitution A G missense_variant D213G 638A>G LIHC-US 7 95614244 95614244 single base substitution A G missense_variant D230G 689A>G LIHC-US 7 95614244 95614244 single base substitution A G missense_variant D233G 698A>G LIHC-US 7 95614244 95614244 single base substitution A G missense_variant D250G 749A>G LIHC-US 7 95705439 95705439 single base substitution A G missense_variant H507R 1520A>G LIHC-US 7 95705439 95705439 single base substitution A G missense_variant H524R 1571A>G LIHC-US 7 95705439 95705439 single base substitution A G missense_variant H527R 1580A>G LIHC-US 7 95705439 95705439 single base substitution A G missense_variant H544R 1631A>G LINC-JP 7 95407670 95407670 single base substitution C A intron_variant LINC-JP 7 95419391 95419391 single base substitution C T intron_variant LINC-JP 7 95422919 95422919 single base substitution G T intron_variant LINC-JP 7 95433276 95433276 single base substitution G A intron_variant LINC-JP 7 95433276 95433276 single base substitution G A upstream_gene_variant LINC-JP 7 95436544 95436544 single base substitution A G intron_variant LINC-JP 7 95442635 95442635 single base substitution G A downstream_gene_variant LINC-JP 7 95442635 95442635 single base substitution G A synonymous_variant L100L 300G>A LINC-JP 7 95442635 95442635 single base substitution G A synonymous_variant L117L 351G>A LINC-JP 7 95452236 95452236 insertion of <=200bp - A downstream_gene_variant LINC-JP 7 95452236 95452236 insertion of <=200bp - A intron_variant LINC-JP 7 95452246 95452252 deletion of <=200bp GAAAGAT - downstream_gene_variant LINC-JP 7 95452246 95452252 deletion of <=200bp GAAAGAT - intron_variant LINC-JP 7 95454387 95454387 single base substitution G T intron_variant LINC-JP 7 95459225 95459225 single base substitution G T downstream_gene_variant LINC-JP 7 95459225 95459225 single base substitution G T intron_variant LINC-JP 7 95480838 95480838 single base substitution G A intron_variant LINC-JP 7 95495008 95495008 single base substitution C A intron_variant LINC-JP 7 95496405 95496405 single base substitution T A intron_variant LINC-JP 7 95497287 95497287 single base substitution C G intron_variant LINC-JP 7 95498180 95498180 single base substitution T C intron_variant LINC-JP 7 95498790 95498790 deletion of <=200bp T - intron_variant LINC-JP 7 95499248 95499248 single base substitution C A exon_variant LINC-JP 7 95499248 95499248 single base substitution C A missense_variant P123Q 368C>A LINC-JP 7 95499248 95499248 single base substitution C A missense_variant P140Q 419C>A LINC-JP 7 95499248 95499248 single base substitution C A missense_variant P143Q 428C>A LINC-JP 7 95499248 95499248 single base substitution C A missense_variant P160Q 479C>A LINC-JP 7 95501277 95501277 single base substitution G T intron_variant LINC-JP 7 95504790 95504790 single base substitution G A intron_variant LINC-JP 7 95511752 95511752 single base substitution A G intron_variant LINC-JP 7 95515980 95515980 single base substitution A C intron_variant LINC-JP 7 95523686 95523686 single base substitution T A intron_variant LINC-JP 7 95526072 95526072 single base substitution C G intron_variant LINC-JP 7 95535014 95535014 deletion of <=200bp T - intron_variant LINC-JP 7 95539269 95539269 single base substitution G C intron_variant LINC-JP 7 95556013 95556013 single base substitution A T intron_variant LINC-JP 7 95588766 95588766 single base substitution A G intron_variant LINC-JP 7 95589410 95589410 single base substitution C T intron_variant LINC-JP 7 95590282 95590282 single base substitution A G intron_variant LINC-JP 7 95597500 95597500 deletion of <=200bp A - intron_variant LINC-JP 7 95598031 95598031 single base substitution C T intron_variant LINC-JP 7 95606007 95606007 single base substitution A G intron_variant LINC-JP 7 95615313 95615313 single base substitution T C intron_variant LINC-JP 7 95618816 95618816 single base substitution C T intron_variant LINC-JP 7 95623159 95623159 single base substitution G A intron_variant LINC-JP 7 95627741 95627741 single base substitution G A intron_variant LINC-JP 7 95629613 95629613 single base substitution T C intron_variant LINC-JP 7 95636848 95636848 single base substitution C T intron_variant LINC-JP 7 95645145 95645145 single base substitution A G intron_variant LINC-JP 7 95653961 95653961 single base substitution G C intron_variant LINC-JP 7 95680440 95680440 single base substitution G A intron_variant LINC-JP 7 95680922 95680922 single base substitution G A intron_variant LINC-JP 7 95691913 95691913 single base substitution G A intron_variant LINC-JP 7 95692529 95692529 single base substitution T C intron_variant LINC-JP 7 95694897 95694897 single base substitution G A intron_variant LINC-JP 7 95696775 95696775 single base substitution A T intron_variant LINC-JP 7 95703196 95703196 single base substitution G A intron_variant LINC-JP 7 95705692 95705692 single base substitution A G intron_variant LINC-JP 7 95726705 95726705 single base substitution G T intron_variant LINC-JP 7 95732964 95732964 single base substitution G A intron_variant LIRI-JP 7 95397496 95397496 single base substitution T C upstream_gene_variant LIRI-JP 7 95399183 95399183 single base substitution T A upstream_gene_variant LIRI-JP 7 95400945 95400945 single base substitution T C upstream_gene_variant LIRI-JP 7 95401534 95401534 single base substitution A G upstream_gene_variant LIRI-JP 7 95402842 95402842 single base substitution G A intron_variant LIRI-JP 7 95407787 95407787 single base substitution T G intron_variant LIRI-JP 7 95408370 95408370 single base substitution A T intron_variant LIRI-JP 7 95409251 95409251 single base substitution A G intron_variant LIRI-JP 7 95410583 95410583 single base substitution T C intron_variant LIRI-JP 7 95412801 95412801 single base substitution A G intron_variant LIRI-JP 7 95415214 95415214 deletion of <=200bp G - intron_variant LIRI-JP 7 95416897 95416897 single base substitution C T intron_variant LIRI-JP 7 95417845 95417845 single base substitution G A intron_variant LIRI-JP 7 95419009 95419009 single base substitution A G intron_variant LIRI-JP 7 95420505 95420505 single base substitution T C intron_variant LIRI-JP 7 95420522 95420522 single base substitution A G intron_variant LIRI-JP 7 95420924 95420924 single base substitution A T intron_variant LIRI-JP 7 95423368 95423368 single base substitution T C intron_variant LIRI-JP 7 95423387 95423387 single base substitution A G intron_variant LIRI-JP 7 95423926 95423926 single base substitution T C intron_variant LIRI-JP 7 95427590 95427590 single base substitution G C intron_variant LIRI-JP 7 95428073 95428073 single base substitution G T intron_variant LIRI-JP 7 95428639 95428639 single base substitution C A intron_variant LIRI-JP 7 95428639 95428639 single base substitution C A upstream_gene_variant LIRI-JP 7 95428648 95428648 single base substitution G A intron_variant LIRI-JP 7 95428648 95428648 single base substitution G A upstream_gene_variant LIRI-JP 7 95432902 95432902 single base substitution C T intron_variant LIRI-JP 7 95432902 95432902 single base substitution C T upstream_gene_variant LIRI-JP 7 95433816 95433816 single base substitution A G intron_variant LIRI-JP 7 95436096 95436096 single base substitution T C intron_variant LIRI-JP 7 95439293 95439293 single base substitution G C intron_variant LIRI-JP 7 95441892 95441892 single base substitution A G intron_variant LIRI-JP 7 95442096 95442096 single base substitution T A intron_variant LIRI-JP 7 95445525 95445525 single base substitution A G downstream_gene_variant LIRI-JP 7 95445525 95445525 single base substitution A G intron_variant LIRI-JP 7 95445614 95445614 single base substitution G A downstream_gene_variant LIRI-JP 7 95445614 95445614 single base substitution G A intron_variant LIRI-JP 7 95446083 95446083 single base substitution A G downstream_gene_variant LIRI-JP 7 95446083 95446083 single base substitution A G intron_variant LIRI-JP 7 95446349 95446349 single base substitution G A downstream_gene_variant LIRI-JP 7 95446349 95446349 single base substitution G A intron_variant LIRI-JP 7 95450729 95450729 single base substitution G A downstream_gene_variant LIRI-JP 7 95450729 95450729 single base substitution G A intron_variant LIRI-JP 7 95451039 95451039 single base substitution A G downstream_gene_variant LIRI-JP 7 95451039 95451039 single base substitution A G intron_variant LIRI-JP 7 95452476 95452476 single base substitution G T downstream_gene_variant LIRI-JP 7 95452476 95452476 single base substitution G T intron_variant LIRI-JP 7 95452993 95452993 single base substitution C T downstream_gene_variant LIRI-JP 7 95452993 95452993 single base substitution C T intron_variant LIRI-JP 7 95453455 95453455 single base substitution A T intron_variant LIRI-JP 7 95453456 95453456 single base substitution C T intron_variant LIRI-JP 7 95454116 95454116 single base substitution T C intron_variant LIRI-JP 7 95454372 95454372 single base substitution C G intron_variant LIRI-JP 7 95454567 95454567 single base substitution A G intron_variant LIRI-JP 7 95456230 95456230 single base substitution T A intron_variant LIRI-JP 7 95457531 95457531 single base substitution C T downstream_gene_variant LIRI-JP 7 95457531 95457531 single base substitution C T intron_variant LIRI-JP 7 95457785 95457785 single base substitution T C downstream_gene_variant LIRI-JP 7 95457785 95457785 single base substitution T C intron_variant LIRI-JP 7 95457818 95457818 single base substitution T A downstream_gene_variant LIRI-JP 7 95457818 95457818 single base substitution T A intron_variant LIRI-JP 7 95459489 95459489 single base substitution C A downstream_gene_variant LIRI-JP 7 95459489 95459489 single base substitution C A intron_variant LIRI-JP 7 95459510 95459510 single base substitution C A downstream_gene_variant LIRI-JP 7 95459510 95459510 single base substitution C A intron_variant LIRI-JP 7 95460138 95460138 single base substitution G T downstream_gene_variant LIRI-JP 7 95460138 95460138 single base substitution G T intron_variant LIRI-JP 7 95460163 95460163 single base substitution C G downstream_gene_variant LIRI-JP 7 95460163 95460163 single base substitution C G intron_variant LIRI-JP 7 95461369 95461369 single base substitution C T downstream_gene_variant LIRI-JP 7 95461369 95461369 single base substitution C T intron_variant LIRI-JP 7 95465292 95465292 single base substitution T C intron_variant LIRI-JP 7 95465292 95465292 single base substitution T C upstream_gene_variant LIRI-JP 7 95467020 95467020 single base substitution T G intron_variant LIRI-JP 7 95467107 95467107 single base substitution C A intron_variant LIRI-JP 7 95467446 95467446 single base substitution T C intron_variant LIRI-JP 7 95468205 95468205 single base substitution C T intron_variant LIRI-JP 7 95469204 95469204 single base substitution T C intron_variant LIRI-JP 7 95470477 95470477 single base substitution T C intron_variant LIRI-JP 7 95471173 95471173 single base substitution A G intron_variant LIRI-JP 7 95472782 95472782 single base substitution T C intron_variant LIRI-JP 7 95472793 95472793 single base substitution C G intron_variant LIRI-JP 7 95473835 95473835 single base substitution A T intron_variant LIRI-JP 7 95474172 95474172 single base substitution T G intron_variant LIRI-JP 7 95474634 95474634 single base substitution C T intron_variant LIRI-JP 7 95474667 95474667 single base substitution A G intron_variant LIRI-JP 7 95475402 95475402 single base substitution C A intron_variant LIRI-JP 7 95478966 95478966 single base substitution T A intron_variant LIRI-JP 7 95479298 95479298 single base substitution T C intron_variant LIRI-JP 7 95479331 95479331 single base substitution G C intron_variant LIRI-JP 7 95479635 95479635 single base substitution T C intron_variant LIRI-JP 7 95484142 95484142 single base substitution A G intron_variant LIRI-JP 7 95484782 95484782 single base substitution A G intron_variant LIRI-JP 7 95487515 95487515 single base substitution T C intron_variant LIRI-JP 7 95487611 95487611 single base substitution G A intron_variant LIRI-JP 7 95487968 95487968 single base substitution T A intron_variant LIRI-JP 7 95488572 95488572 single base substitution A G intron_variant LIRI-JP 7 95489546 95489546 single base substitution G A intron_variant LIRI-JP 7 95489699 95489699 single base substitution A G intron_variant LIRI-JP 7 95490680 95490680 single base substitution T A intron_variant LIRI-JP 7 95491117 95491117 single base substitution C A intron_variant LIRI-JP 7 95491158 95491158 single base substitution T C intron_variant LIRI-JP 7 95491499 95491499 single base substitution A T intron_variant LIRI-JP 7 95492404 95492404 single base substitution A C intron_variant LIRI-JP 7 95497999 95497999 single base substitution A G intron_variant LIRI-JP 7 95499788 95499788 single base substitution G T intron_variant LIRI-JP 7 95504280 95504280 single base substitution T C intron_variant LIRI-JP 7 95504779 95504779 single base substitution A G intron_variant LIRI-JP 7 95504794 95504794 single base substitution A G intron_variant LIRI-JP 7 95505880 95505880 single base substitution A G intron_variant LIRI-JP 7 95506664 95506664 single base substitution G A intron_variant LIRI-JP 7 95507132 95507132 single base substitution G T intron_variant LIRI-JP 7 95507250 95507250 single base substitution G A intron_variant LIRI-JP 7 95508096 95508096 single base substitution A T intron_variant LIRI-JP 7 95509781 95509781 single base substitution G A intron_variant LIRI-JP 7 95510456 95510456 single base substitution A G intron_variant LIRI-JP 7 95512412 95512412 single base substitution T G intron_variant LIRI-JP 7 95513288 95513288 single base substitution A G intron_variant LIRI-JP 7 95513985 95513985 single base substitution C G intron_variant LIRI-JP 7 95515710 95515710 single base substitution C T intron_variant LIRI-JP 7 95517716 95517716 single base substitution T C intron_variant LIRI-JP 7 95518630 95518630 single base substitution A G intron_variant LIRI-JP 7 95521063 95521063 single base substitution T C intron_variant LIRI-JP 7 95521466 95521466 single base substitution T C intron_variant LIRI-JP 7 95522815 95522815 single base substitution C T intron_variant LIRI-JP 7 95524086 95524086 single base substitution C A intron_variant LIRI-JP 7 95524439 95524439 single base substitution C T intron_variant LIRI-JP 7 95525009 95525009 single base substitution A C intron_variant LIRI-JP 7 95526223 95526223 single base substitution C T intron_variant LIRI-JP 7 95529155 95529155 single base substitution C T intron_variant LIRI-JP 7 95531531 95531531 single base substitution C A intron_variant LIRI-JP 7 95535655 95535655 single base substitution T C intron_variant LIRI-JP 7 95537764 95537764 single base substitution A G intron_variant LIRI-JP 7 95541337 95541337 single base substitution C A intron_variant LIRI-JP 7 95543320 95543320 single base substitution G A intron_variant LIRI-JP 7 95544513 95544513 single base substitution C T intron_variant LIRI-JP 7 95544558 95544558 single base substitution A G intron_variant LIRI-JP 7 95545059 95545059 single base substitution A C intron_variant LIRI-JP 7 95545074 95545074 single base substitution T G intron_variant LIRI-JP 7 95545262 95545262 single base substitution T C intron_variant LIRI-JP 7 95545431 95545438 deletion of <=200bp GTCATACT - intron_variant LIRI-JP 7 95545474 95545474 single base substitution T C intron_variant LIRI-JP 7 95546070 95546070 single base substitution A C intron_variant LIRI-JP 7 95546858 95546858 single base substitution T C intron_variant LIRI-JP 7 95549449 95549449 single base substitution A G intron_variant LIRI-JP 7 95549580 95549580 single base substitution G A intron_variant LIRI-JP 7 95549697 95549697 single base substitution C A intron_variant LIRI-JP 7 95555359 95555359 single base substitution A T intron_variant LIRI-JP 7 95556509 95556509 single base substitution C A intron_variant LIRI-JP 7 95556883 95556883 single base substitution T C intron_variant LIRI-JP 7 95557873 95557873 single base substitution C T intron_variant LIRI-JP 7 95560130 95560130 single base substitution G A intron_variant LIRI-JP 7 95560692 95560692 single base substitution C T intron_variant LIRI-JP 7 95560740 95560740 single base substitution C T intron_variant LIRI-JP 7 95561380 95561380 single base substitution T G intron_variant LIRI-JP 7 95563473 95563473 single base substitution G A intron_variant LIRI-JP 7 95563915 95563915 deletion of <=200bp A - intron_variant LIRI-JP 7 95565375 95565375 single base substitution C T intron_variant LIRI-JP 7 95566701 95566701 single base substitution C T intron_variant LIRI-JP 7 95567625 95567625 single base substitution A C intron_variant LIRI-JP 7 95567950 95567950 single base substitution G A intron_variant LIRI-JP 7 95568578 95568578 single base substitution A G intron_variant LIRI-JP 7 95570377 95570377 single base substitution C T intron_variant LIRI-JP 7 95570378 95570378 single base substitution C T intron_variant LIRI-JP 7 95570498 95570498 single base substitution T C intron_variant LIRI-JP 7 95571624 95571624 single base substitution A G intron_variant LIRI-JP 7 95575020 95575020 single base substitution A C intron_variant LIRI-JP 7 95575022 95575022 single base substitution C T intron_variant LIRI-JP 7 95575096 95575096 single base substitution G T intron_variant LIRI-JP 7 95575383 95575383 single base substitution A T intron_variant LIRI-JP 7 95575822 95575822 single base substitution G T intron_variant LIRI-JP 7 95576255 95576255 single base substitution C A intron_variant LIRI-JP 7 95576505 95576505 single base substitution A G intron_variant LIRI-JP 7 95579078 95579078 single base substitution T C intron_variant LIRI-JP 7 95582014 95582014 single base substitution T C intron_variant LIRI-JP 7 95583730 95583730 single base substitution G A intron_variant LIRI-JP 7 95583878 95583878 single base substitution A T intron_variant LIRI-JP 7 95584428 95584428 single base substitution C T intron_variant LIRI-JP 7 95588856 95588856 single base substitution A G intron_variant LIRI-JP 7 95590938 95590938 single base substitution G A intron_variant LIRI-JP 7 95591210 95591210 single base substitution C T intron_variant LIRI-JP 7 95594929 95594929 single base substitution T C intron_variant LIRI-JP 7 95595182 95595182 single base substitution A G intron_variant LIRI-JP 7 95597702 95597702 single base substitution T C intron_variant LIRI-JP 7 95598773 95598773 single base substitution G T intron_variant LIRI-JP 7 95600234 95600234 single base substitution A C intron_variant LIRI-JP 7 95600674 95600674 single base substitution G A intron_variant LIRI-JP 7 95601500 95601500 single base substitution C T intron_variant LIRI-JP 7 95602359 95602359 single base substitution G C intron_variant LIRI-JP 7 95602513 95602513 single base substitution A T intron_variant LIRI-JP 7 95604086 95604086 single base substitution G T intron_variant LIRI-JP 7 95604873 95604873 single base substitution A G intron_variant LIRI-JP 7 95606996 95606996 single base substitution A G intron_variant LIRI-JP 7 95607093 95607093 single base substitution T G intron_variant LIRI-JP 7 95607099 95607099 single base substitution A G intron_variant LIRI-JP 7 95608110 95608110 single base substitution G C intron_variant LIRI-JP 7 95608381 95608381 single base substitution T C intron_variant LIRI-JP 7 95609048 95609048 single base substitution T A intron_variant LIRI-JP 7 95609567 95609567 single base substitution A G intron_variant LIRI-JP 7 95610392 95610392 single base substitution C T intron_variant LIRI-JP 7 95610777 95610777 single base substitution T C intron_variant LIRI-JP 7 95611394 95611394 single base substitution A T intron_variant LIRI-JP 7 95611947 95611947 single base substitution A G intron_variant LIRI-JP 7 95612164 95612164 single base substitution T C intron_variant LIRI-JP 7 95612481 95612481 single base substitution C A intron_variant LIRI-JP 7 95613580 95613580 single base substitution A G intron_variant LIRI-JP 7 95613669 95613669 single base substitution T C intron_variant LIRI-JP 7 95614393 95614393 single base substitution A G intron_variant LIRI-JP 7 95615409 95615409 single base substitution G A intron_variant LIRI-JP 7 95616208 95616208 single base substitution A G intron_variant LIRI-JP 7 95616263 95616263 single base substitution G A intron_variant LIRI-JP 7 95616265 95616265 single base substitution C G intron_variant LIRI-JP 7 95617656 95617656 single base substitution G C intron_variant LIRI-JP 7 95618285 95618285 single base substitution T C intron_variant LIRI-JP 7 95618885 95618885 single base substitution T A intron_variant LIRI-JP 7 95619120 95619120 single base substitution T C intron_variant LIRI-JP 7 95619921 95619921 single base substitution T C intron_variant LIRI-JP 7 95621571 95621571 single base substitution C T intron_variant LIRI-JP 7 95623307 95623307 single base substitution T A intron_variant LIRI-JP 7 95626048 95626048 single base substitution T C intron_variant LIRI-JP 7 95631639 95631639 single base substitution C T intron_variant LIRI-JP 7 95631840 95631840 single base substitution A G intron_variant LIRI-JP 7 95634220 95634220 single base substitution A C intron_variant LIRI-JP 7 95638773 95638773 single base substitution A G intron_variant LIRI-JP 7 95638929 95638929 single base substitution A G intron_variant LIRI-JP 7 95640843 95640843 single base substitution A G intron_variant LIRI-JP 7 95641633 95641633 single base substitution C T intron_variant LIRI-JP 7 95643613 95643613 single base substitution A T intron_variant LIRI-JP 7 95644493 95644493 single base substitution A G intron_variant LIRI-JP 7 95646086 95646086 single base substitution C T intron_variant LIRI-JP 7 95648139 95648139 single base substitution A T intron_variant LIRI-JP 7 95649504 95649504 single base substitution C T intron_variant LIRI-JP 7 95650975 95650975 single base substitution C A intron_variant LIRI-JP 7 95651739 95651739 single base substitution G A intron_variant LIRI-JP 7 95652155 95652155 single base substitution C T intron_variant LIRI-JP 7 95652903 95652903 single base substitution T C intron_variant LIRI-JP 7 95655703 95655703 single base substitution G T intron_variant LIRI-JP 7 95657054 95657054 single base substitution A C intron_variant LIRI-JP 7 95657054 95657054 single base substitution A C upstream_gene_variant LIRI-JP 7 95657326 95657326 single base substitution A G intron_variant LIRI-JP 7 95657326 95657326 single base substitution A G upstream_gene_variant LIRI-JP 7 95658409 95658409 single base substitution A G downstream_gene_variant LIRI-JP 7 95658409 95658409 single base substitution A G intron_variant LIRI-JP 7 95658409 95658409 single base substitution A G upstream_gene_variant LIRI-JP 7 95660358 95660358 single base substitution G A downstream_gene_variant LIRI-JP 7 95660358 95660358 single base substitution G A intron_variant LIRI-JP 7 95660358 95660358 single base substitution G A upstream_gene_variant LIRI-JP 7 95660379 95660379 single base substitution T C downstream_gene_variant LIRI-JP 7 95660379 95660379 single base substitution T C intron_variant LIRI-JP 7 95660379 95660379 single base substitution T C upstream_gene_variant LIRI-JP 7 95662386 95662386 single base substitution G A downstream_gene_variant LIRI-JP 7 95662386 95662386 single base substitution G A intron_variant LIRI-JP 7 95665152 95665152 single base substitution G C intron_variant LIRI-JP 7 95668773 95668773 single base substitution G A intron_variant LIRI-JP 7 95668895 95668895 single base substitution C A intron_variant LIRI-JP 7 95670286 95670286 single base substitution G A intron_variant LIRI-JP 7 95675045 95675045 single base substitution C G intron_variant LIRI-JP 7 95677597 95677597 single base substitution A G intron_variant LIRI-JP 7 95677792 95677792 single base substitution G A intron_variant LIRI-JP 7 95679928 95679928 single base substitution C T intron_variant LIRI-JP 7 95680876 95680876 single base substitution C T intron_variant LIRI-JP 7 95682841 95682841 single base substitution T G intron_variant LIRI-JP 7 95686294 95686294 single base substitution A G downstream_gene_variant LIRI-JP 7 95686294 95686294 single base substitution A G intron_variant LIRI-JP 7 95686483 95686483 single base substitution C A downstream_gene_variant LIRI-JP 7 95686483 95686483 single base substitution C A intron_variant LIRI-JP 7 95686484 95686484 single base substitution C T downstream_gene_variant LIRI-JP 7 95686484 95686484 single base substitution C T intron_variant LIRI-JP 7 95688086 95688086 single base substitution C T downstream_gene_variant LIRI-JP 7 95688086 95688086 single base substitution C T intron_variant LIRI-JP 7 95688792 95688792 single base substitution A G downstream_gene_variant LIRI-JP 7 95688792 95688792 single base substitution A G intron_variant LIRI-JP 7 95690013 95690013 single base substitution A G downstream_gene_variant LIRI-JP 7 95690013 95690013 single base substitution A G intron_variant LIRI-JP 7 95691102 95691102 single base substitution T G intron_variant LIRI-JP 7 95691772 95691772 single base substitution A G intron_variant LIRI-JP 7 95693607 95693607 single base substitution T C intron_variant LIRI-JP 7 95694199 95694199 single base substitution A G intron_variant LIRI-JP 7 95694949 95694949 single base substitution C T intron_variant LIRI-JP 7 95698898 95698898 single base substitution A G intron_variant LIRI-JP 7 95699221 95699223 deletion of <=200bp CTT - intron_variant LIRI-JP 7 95700217 95700217 single base substitution G A intron_variant LIRI-JP 7 95700613 95700613 single base substitution T C intron_variant LIRI-JP 7 95701408 95701408 single base substitution G A intron_variant LIRI-JP 7 95701707 95701707 single base substitution C T intron_variant LIRI-JP 7 95701711 95701711 single base substitution A G intron_variant LIRI-JP 7 95701737 95701737 single base substitution G A intron_variant LIRI-JP 7 95702598 95702598 single base substitution A C intron_variant LIRI-JP 7 95702616 95702616 single base substitution A G intron_variant LIRI-JP 7 95703963 95703963 single base substitution A T intron_variant LIRI-JP 7 95706049 95706049 single base substitution C A intron_variant LIRI-JP 7 95706677 95706677 single base substitution T C intron_variant LIRI-JP 7 95708527 95708527 single base substitution A G intron_variant LIRI-JP 7 95712250 95712250 single base substitution T A intron_variant LIRI-JP 7 95713283 95713283 single base substitution C A intron_variant LIRI-JP 7 95713375 95713375 single base substitution G A intron_variant LIRI-JP 7 95714102 95714102 single base substitution C T intron_variant LIRI-JP 7 95715399 95715399 single base substitution C T intron_variant LIRI-JP 7 95715747 95715747 single base substitution G T intron_variant LIRI-JP 7 95719976 95719976 single base substitution A G intron_variant LIRI-JP 7 95720082 95720082 single base substitution T C intron_variant LIRI-JP 7 95722846 95722846 single base substitution T C intron_variant LIRI-JP 7 95724750 95724750 single base substitution G A intron_variant LIRI-JP 7 95725763 95725763 single base substitution G A intron_variant LIRI-JP 7 95725808 95725808 single base substitution C T intron_variant LIRI-JP 7 95726656 95726656 single base substitution A T intron_variant LIRI-JP 7 95729142 95729142 single base substitution A G downstream_gene_variant LIRI-JP 7 95729142 95729142 single base substitution A G intron_variant LIRI-JP 7 95732825 95732825 single base substitution T C intron_variant LIRI-JP 7 95733999 95733999 single base substitution T C intron_variant LIRI-JP 7 95740327 95740327 single base substitution T C downstream_gene_variant LIRI-JP 7 95743622 95743622 single base substitution G C downstream_gene_variant LUSC-KR 7 95399441 95399441 single base substitution T C upstream_gene_variant LUSC-KR 7 95403462 95403462 single base substitution C A intron_variant LUSC-KR 7 95405952 95405952 single base substitution C A intron_variant LUSC-KR 7 95406619 95406619 single base substitution C T intron_variant LUSC-KR 7 95407768 95407768 single base substitution G T intron_variant LUSC-KR 7 95407769 95407769 single base substitution G C intron_variant LUSC-KR 7 95419456 95419456 single base substitution C G intron_variant LUSC-KR 7 95420056 95420056 single base substitution A C intron_variant LUSC-KR 7 95423010 95423010 single base substitution G A intron_variant LUSC-KR 7 95423626 95423626 single base substitution A G intron_variant LUSC-KR 7 95425173 95425173 single base substitution G T intron_variant LUSC-KR 7 95426161 95426161 single base substitution A G intron_variant LUSC-KR 7 95426587 95426587 single base substitution A G intron_variant LUSC-KR 7 95429321 95429321 single base substitution C A intron_variant LUSC-KR 7 95429321 95429321 single base substitution C A upstream_gene_variant LUSC-KR 7 95431192 95431192 single base substitution G C intron_variant LUSC-KR 7 95431192 95431192 single base substitution G C upstream_gene_variant LUSC-KR 7 95432977 95432977 single base substitution T A intron_variant LUSC-KR 7 95432977 95432977 single base substitution T A upstream_gene_variant LUSC-KR 7 95442420 95442420 single base substitution C T intron_variant LUSC-KR 7 95454167 95454167 single base substitution G A intron_variant LUSC-KR 7 95454327 95454327 single base substitution A G intron_variant LUSC-KR 7 95455843 95455843 single base substitution T A intron_variant LUSC-KR 7 95456158 95456158 single base substitution T A intron_variant LUSC-KR 7 95456894 95456894 single base substitution G A intron_variant LUSC-KR 7 95457009 95457009 single base substitution G T intron_variant LUSC-KR 7 95458391 95458391 single base substitution A G downstream_gene_variant LUSC-KR 7 95458391 95458391 single base substitution A G intron_variant LUSC-KR 7 95460694 95460694 single base substitution T A downstream_gene_variant LUSC-KR 7 95460694 95460694 single base substitution T A intron_variant LUSC-KR 7 95461314 95461314 single base substitution T C downstream_gene_variant LUSC-KR 7 95461314 95461314 single base substitution T C intron_variant LUSC-KR 7 95463546 95463546 single base substitution G T intron_variant LUSC-KR 7 95463546 95463546 single base substitution G T upstream_gene_variant LUSC-KR 7 95466165 95466165 single base substitution C G intron_variant LUSC-KR 7 95466165 95466165 single base substitution C G upstream_gene_variant LUSC-KR 7 95466501 95466501 single base substitution C G intron_variant LUSC-KR 7 95466501 95466501 single base substitution C G upstream_gene_variant LUSC-KR 7 95466782 95466782 single base substitution C T intron_variant LUSC-KR 7 95466782 95466782 single base substitution C T upstream_gene_variant LUSC-KR 7 95466796 95466796 single base substitution G A intron_variant LUSC-KR 7 95466796 95466796 single base substitution G A upstream_gene_variant LUSC-KR 7 95466841 95466841 single base substitution A T intron_variant LUSC-KR 7 95466841 95466841 single base substitution A T upstream_gene_variant LUSC-KR 7 95470709 95470709 single base substitution A C intron_variant LUSC-KR 7 95471952 95471952 single base substitution C A intron_variant LUSC-KR 7 95471998 95471998 single base substitution G T intron_variant LUSC-KR 7 95475961 95475961 single base substitution G T intron_variant LUSC-KR 7 95476963 95476963 single base substitution A T intron_variant LUSC-KR 7 95482169 95482169 single base substitution G T intron_variant LUSC-KR 7 95485679 95485679 single base substitution G T intron_variant LUSC-KR 7 95495587 95495587 single base substitution C A intron_variant LUSC-KR 7 95496611 95496611 single base substitution T C intron_variant LUSC-KR 7 95497419 95497419 single base substitution G T intron_variant LUSC-KR 7 95504372 95504372 single base substitution G C intron_variant LUSC-KR 7 95504713 95504713 single base substitution A G intron_variant LUSC-KR 7 95508235 95508235 single base substitution G T intron_variant LUSC-KR 7 95508921 95508921 single base substitution A C intron_variant LUSC-KR 7 95509409 95509409 single base substitution G T intron_variant LUSC-KR 7 95514736 95514736 single base substitution G A intron_variant LUSC-KR 7 95516687 95516687 single base substitution G C intron_variant LUSC-KR 7 95519086 95519086 single base substitution G A intron_variant LUSC-KR 7 95523584 95523584 single base substitution G T intron_variant LUSC-KR 7 95523788 95523788 single base substitution A T intron_variant LUSC-KR 7 95527086 95527086 single base substitution C G intron_variant LUSC-KR 7 95532434 95532434 single base substitution A T intron_variant LUSC-KR 7 95533345 95533345 single base substitution G C intron_variant LUSC-KR 7 95538518 95538518 single base substitution T A intron_variant LUSC-KR 7 95538539 95538539 single base substitution G C intron_variant LUSC-KR 7 95538766 95538766 single base substitution A G intron_variant LUSC-KR 7 95539122 95539122 single base substitution G A intron_variant LUSC-KR 7 95540727 95540727 single base substitution G T intron_variant LUSC-KR 7 95543964 95543964 single base substitution A G intron_variant LUSC-KR 7 95548836 95548836 single base substitution A T intron_variant LUSC-KR 7 95550711 95550711 single base substitution T C intron_variant LUSC-KR 7 95558056 95558056 single base substitution C A intron_variant LUSC-KR 7 95558196 95558196 single base substitution T C intron_variant LUSC-KR 7 95559165 95559165 single base substitution C T intron_variant LUSC-KR 7 95559818 95559818 single base substitution G A intron_variant LUSC-KR 7 95563214 95563214 single base substitution G C intron_variant LUSC-KR 7 95563269 95563269 single base substitution G C intron_variant LUSC-KR 7 95566787 95566787 single base substitution C T intron_variant LUSC-KR 7 95569244 95569244 single base substitution G T intron_variant LUSC-KR 7 95569272 95569272 single base substitution G T intron_variant LUSC-KR 7 95569672 95569672 single base substitution G C intron_variant LUSC-KR 7 95569843 95569843 single base substitution G A intron_variant LUSC-KR 7 95569856 95569856 single base substitution C A intron_variant LUSC-KR 7 95569905 95569905 single base substitution C G intron_variant LUSC-KR 7 95573255 95573255 single base substitution A C intron_variant LUSC-KR 7 95573943 95573943 single base substitution C T intron_variant LUSC-KR 7 95574042 95574042 single base substitution G A intron_variant LUSC-KR 7 95574342 95574342 single base substitution G A intron_variant LUSC-KR 7 95574344 95574344 single base substitution A T intron_variant LUSC-KR 7 95578202 95578202 single base substitution A G intron_variant LUSC-KR 7 95580371 95580371 single base substitution C T intron_variant LUSC-KR 7 95582822 95582822 single base substitution C G intron_variant LUSC-KR 7 95585006 95585006 single base substitution G A intron_variant LUSC-KR 7 95586571 95586571 single base substitution G C intron_variant LUSC-KR 7 95596518 95596518 single base substitution A T intron_variant LUSC-KR 7 95599317 95599317 single base substitution G A intron_variant LUSC-KR 7 95599972 95599972 single base substitution C G intron_variant LUSC-KR 7 95604908 95604908 single base substitution T C intron_variant LUSC-KR 7 95606236 95606236 single base substitution A C intron_variant LUSC-KR 7 95607030 95607030 single base substitution A G intron_variant LUSC-KR 7 95609808 95609808 single base substitution C G intron_variant LUSC-KR 7 95610172 95610172 single base substitution C A intron_variant LUSC-KR 7 95610769 95610769 single base substitution C A intron_variant LUSC-KR 7 95614349 95614349 single base substitution A G intron_variant LUSC-KR 7 95617808 95617808 single base substitution A T intron_variant LUSC-KR 7 95623590 95623590 single base substitution A T intron_variant LUSC-KR 7 95625423 95625423 single base substitution G T intron_variant LUSC-KR 7 95625995 95625995 single base substitution G T intron_variant LUSC-KR 7 95627052 95627052 single base substitution C T intron_variant LUSC-KR 7 95628478 95628478 single base substitution C T intron_variant LUSC-KR 7 95630863 95630863 single base substitution G T intron_variant LUSC-KR 7 95631733 95631733 single base substitution G A intron_variant LUSC-KR 7 95631847 95631847 single base substitution A T intron_variant LUSC-KR 7 95632720 95632720 single base substitution G C intron_variant LUSC-KR 7 95633453 95633453 single base substitution G C intron_variant LUSC-KR 7 95634422 95634422 single base substitution C T intron_variant LUSC-KR 7 95636469 95636469 single base substitution G T intron_variant LUSC-KR 7 95636931 95636931 single base substitution G T intron_variant LUSC-KR 7 95638400 95638400 single base substitution G T intron_variant LUSC-KR 7 95638963 95638963 single base substitution C T intron_variant LUSC-KR 7 95640458 95640458 single base substitution C T intron_variant LUSC-KR 7 95641451 95641451 single base substitution A T intron_variant LUSC-KR 7 95643746 95643746 single base substitution G T intron_variant LUSC-KR 7 95645395 95645395 single base substitution T A intron_variant LUSC-KR 7 95645506 95645506 single base substitution T G intron_variant LUSC-KR 7 95646840 95646840 single base substitution A T intron_variant LUSC-KR 7 95651510 95651510 single base substitution C A intron_variant LUSC-KR 7 95652573 95652573 single base substitution C G intron_variant LUSC-KR 7 95653058 95653058 single base substitution G T intron_variant LUSC-KR 7 95653715 95653715 single base substitution G T intron_variant LUSC-KR 7 95653940 95653940 single base substitution A G intron_variant LUSC-KR 7 95655249 95655249 single base substitution T C intron_variant LUSC-KR 7 95655733 95655733 single base substitution G T intron_variant LUSC-KR 7 95655837 95655837 single base substitution C T intron_variant LUSC-KR 7 95656129 95656129 single base substitution C A intron_variant LUSC-KR 7 95656310 95656310 single base substitution C T intron_variant LUSC-KR 7 95658370 95658370 single base substitution C T downstream_gene_variant LUSC-KR 7 95658370 95658370 single base substitution C T intron_variant LUSC-KR 7 95658370 95658370 single base substitution C T upstream_gene_variant LUSC-KR 7 95661818 95661818 single base substitution G T downstream_gene_variant LUSC-KR 7 95661818 95661818 single base substitution G T intron_variant LUSC-KR 7 95661818 95661818 single base substitution G T upstream_gene_variant LUSC-KR 7 95663374 95663374 single base substitution A C intron_variant LUSC-KR 7 95666634 95666634 single base substitution G A intron_variant LUSC-KR 7 95667495 95667495 single base substitution G T intron_variant LUSC-KR 7 95668150 95668150 single base substitution G T intron_variant LUSC-KR 7 95668664 95668664 single base substitution C A exon_variant LUSC-KR 7 95668664 95668664 single base substitution C A synonymous_variant G460G 1380C>A LUSC-KR 7 95668664 95668664 single base substitution C A synonymous_variant G477G 1431C>A LUSC-KR 7 95668664 95668664 single base substitution C A synonymous_variant G480G 1440C>A LUSC-KR 7 95668664 95668664 single base substitution C A synonymous_variant G497G 1491C>A LUSC-KR 7 95673696 95673696 single base substitution G T intron_variant LUSC-KR 7 95675779 95675779 single base substitution T C intron_variant LUSC-KR 7 95678679 95678679 single base substitution A T intron_variant LUSC-KR 7 95679109 95679109 single base substitution C T intron_variant LUSC-KR 7 95680344 95680344 single base substitution G A intron_variant LUSC-KR 7 95682504 95682504 single base substitution C T intron_variant LUSC-KR 7 95684349 95684349 single base substitution G T intron_variant LUSC-KR 7 95684568 95684568 single base substitution T C intron_variant LUSC-KR 7 95685567 95685567 single base substitution G C downstream_gene_variant LUSC-KR 7 95685567 95685567 single base substitution G C intron_variant LUSC-KR 7 95687442 95687442 single base substitution T A downstream_gene_variant LUSC-KR 7 95687442 95687442 single base substitution T A intron_variant LUSC-KR 7 95701408 95701408 single base substitution G T intron_variant LUSC-KR 7 95704418 95704418 single base substitution G C intron_variant LUSC-KR 7 95707624 95707624 single base substitution T C intron_variant LUSC-KR 7 95709183 95709183 single base substitution G C intron_variant LUSC-KR 7 95710677 95710677 single base substitution A G intron_variant LUSC-KR 7 95717750 95717750 single base substitution G T intron_variant LUSC-KR 7 95719959 95719959 single base substitution G C intron_variant LUSC-KR 7 95720265 95720265 single base substitution C A intron_variant LUSC-KR 7 95723371 95723371 single base substitution G T intron_variant LUSC-KR 7 95724908 95724908 single base substitution G A intron_variant LUSC-KR 7 95727807 95727807 single base substitution G T downstream_gene_variant LUSC-KR 7 95727807 95727807 single base substitution G T intron_variant LUSC-KR 7 95733133 95733133 single base substitution C A intron_variant LUSC-KR 7 95735740 95735740 single base substitution G C intron_variant LUSC-KR 7 95736862 95736862 single base substitution G T intron_variant LUSC-KR 7 95740121 95740121 single base substitution A G downstream_gene_variant LUSC-US 7 95442571 95442571 single base substitution T C missense_variant M79T 236T>C LUSC-US 7 95442571 95442571 single base substitution T C missense_variant M96T 287T>C LUSC-US 7 95499246 95499246 single base substitution G T exon_variant LUSC-US 7 95499246 95499246 single base substitution G T synonymous_variant L122L 366G>T LUSC-US 7 95499246 95499246 single base substitution G T synonymous_variant L139L 417G>T LUSC-US 7 95499246 95499246 single base substitution G T synonymous_variant L142L 426G>T LUSC-US 7 95499246 95499246 single base substitution G T synonymous_variant L159L 477G>T LUSC-US 7 95499272 95499272 single base substitution A G exon_variant LUSC-US 7 95499272 95499272 single base substitution A G missense_variant K131R 392A>G LUSC-US 7 95499272 95499272 single base substitution A G missense_variant K148R 443A>G LUSC-US 7 95499272 95499272 single base substitution A G missense_variant K151R 452A>G LUSC-US 7 95499272 95499272 single base substitution A G missense_variant K168R 503A>G LUSC-US 7 95606829 95606829 single base substitution G T exon_variant LUSC-US 7 95606829 95606829 single base substitution G T stop_gained E146* 436G>T LUSC-US 7 95606829 95606829 single base substitution G T stop_gained E163* 487G>T LUSC-US 7 95606829 95606829 single base substitution G T stop_gained E166* 496G>T LUSC-US 7 95606829 95606829 single base substitution G T stop_gained E183* 547G>T LUSC-US 7 95614265 95614265 single base substitution G T exon_variant LUSC-US 7 95614265 95614265 single base substitution G T missense_variant G220V 659G>T LUSC-US 7 95614265 95614265 single base substitution G T missense_variant G237V 710G>T LUSC-US 7 95614265 95614265 single base substitution G T missense_variant G240V 719G>T LUSC-US 7 95614265 95614265 single base substitution G T missense_variant G257V 770G>T LUSC-US 7 95616462 95616462 single base substitution C T exon_variant LUSC-US 7 95616462 95616462 single base substitution C T missense_variant L260F 778C>T LUSC-US 7 95616462 95616462 single base substitution C T missense_variant L277F 829C>T LUSC-US 7 95616462 95616462 single base substitution C T missense_variant L280F 838C>T LUSC-US 7 95616462 95616462 single base substitution C T missense_variant L297F 889C>T LUSC-US 7 95657515 95657515 single base substitution G A exon_variant LUSC-US 7 95657515 95657515 single base substitution G A missense_variant R313H 938G>A LUSC-US 7 95657515 95657515 single base substitution G A missense_variant R330H 989G>A LUSC-US 7 95657515 95657515 single base substitution G A missense_variant R333H 998G>A LUSC-US 7 95657515 95657515 single base substitution G A missense_variant R350H 1049G>A LUSC-US 7 95657515 95657515 single base substitution G A upstream_gene_variant LUSC-US 7 95665060 95665060 single base substitution G A exon_variant LUSC-US 7 95665060 95665060 single base substitution G A missense_variant G434R 1300G>A LUSC-US 7 95665060 95665060 single base substitution G A missense_variant G451R 1351G>A LUSC-US 7 95665060 95665060 single base substitution G A missense_variant G454R 1360G>A LUSC-US 7 95665060 95665060 single base substitution G A missense_variant G471R 1411G>A LUSC-US 7 95709710 95709710 single base substitution C A synonymous_variant S542S 1626C>A LUSC-US 7 95709710 95709710 single base substitution C A synonymous_variant S559S 1677C>A LUSC-US 7 95709710 95709710 single base substitution C A synonymous_variant S562S 1686C>A LUSC-US 7 95709710 95709710 single base substitution C A synonymous_variant S579S 1737C>A MALY-DE 7 95402283 95402283 single base substitution G T intron_variant MALY-DE 7 95402650 95402650 single base substitution C T intron_variant MALY-DE 7 95407009 95407009 single base substitution C T intron_variant MALY-DE 7 95410318 95410318 deletion of <=200bp A - intron_variant MALY-DE 7 95411543 95411543 single base substitution A C intron_variant MALY-DE 7 95411575 95411575 single base substitution T C intron_variant MALY-DE 7 95417206 95417206 single base substitution G T intron_variant MALY-DE 7 95420737 95420737 single base substitution T G intron_variant MALY-DE 7 95423534 95423534 single base substitution T G intron_variant MALY-DE 7 95425004 95425004 single base substitution G T intron_variant MALY-DE 7 95431966 95431966 single base substitution G C intron_variant MALY-DE 7 95431966 95431966 single base substitution G C upstream_gene_variant MALY-DE 7 95432267 95432267 single base substitution T G intron_variant MALY-DE 7 95432267 95432267 single base substitution T G upstream_gene_variant MALY-DE 7 95434191 95434191 single base substitution A G intron_variant MALY-DE 7 95434327 95434327 single base substitution C T intron_variant MALY-DE 7 95436309 95436309 single base substitution C A intron_variant MALY-DE 7 95437631 95437631 insertion of <=200bp - T intron_variant MALY-DE 7 95438010 95438010 single base substitution A T intron_variant MALY-DE 7 95439709 95439709 single base substitution T A missense_variant D38E 114T>A MALY-DE 7 95439977 95439977 single base substitution T C intron_variant MALY-DE 7 95442394 95442394 single base substitution C T intron_variant MALY-DE 7 95442670 95442670 single base substitution A T downstream_gene_variant MALY-DE 7 95442670 95442670 single base substitution A T intron_variant MALY-DE 7 95443480 95443480 single base substitution A C downstream_gene_variant MALY-DE 7 95443480 95443480 single base substitution A C intron_variant MALY-DE 7 95449234 95449234 single base substitution T C downstream_gene_variant MALY-DE 7 95449234 95449234 single base substitution T C intron_variant MALY-DE 7 95450340 95450340 single base substitution G A downstream_gene_variant MALY-DE 7 95450340 95450340 single base substitution G A intron_variant MALY-DE 7 95450506 95450506 single base substitution T G downstream_gene_variant MALY-DE 7 95450506 95450506 single base substitution T G intron_variant MALY-DE 7 95452036 95452036 single base substitution A C downstream_gene_variant MALY-DE 7 95452036 95452036 single base substitution A C intron_variant MALY-DE 7 95453986 95453986 single base substitution G T intron_variant MALY-DE 7 95454428 95454428 single base substitution C G intron_variant MALY-DE 7 95454629 95454629 single base substitution G C intron_variant MALY-DE 7 95456197 95456197 single base substitution A G intron_variant MALY-DE 7 95458750 95458750 single base substitution A G downstream_gene_variant MALY-DE 7 95458750 95458750 single base substitution A G intron_variant MALY-DE 7 95460663 95460663 single base substitution A G downstream_gene_variant MALY-DE 7 95460663 95460663 single base substitution A G intron_variant MALY-DE 7 95467510 95467510 insertion of <=200bp - T intron_variant MALY-DE 7 95467737 95467737 single base substitution A C intron_variant MALY-DE 7 95475630 95475630 single base substitution A G intron_variant MALY-DE 7 95477382 95477382 single base substitution A G intron_variant MALY-DE 7 95480075 95480075 single base substitution T G intron_variant MALY-DE 7 95481550 95481550 single base substitution G T intron_variant MALY-DE 7 95482874 95482874 deletion of <=200bp T - intron_variant MALY-DE 7 95483997 95483997 single base substitution T G intron_variant MALY-DE 7 95486595 95486595 single base substitution A T intron_variant MALY-DE 7 95490224 95490224 single base substitution C T intron_variant MALY-DE 7 95496066 95496066 single base substitution T C intron_variant MALY-DE 7 95496594 95496594 single base substitution C T intron_variant MALY-DE 7 95498417 95498417 single base substitution C T intron_variant MALY-DE 7 95500248 95500248 single base substitution G T intron_variant MALY-DE 7 95505396 95505396 single base substitution T G intron_variant MALY-DE 7 95506497 95506497 single base substitution C T intron_variant MALY-DE 7 95507247 95507247 single base substitution A C intron_variant MALY-DE 7 95508364 95508364 single base substitution A G intron_variant MALY-DE 7 95510285 95510285 single base substitution A G intron_variant MALY-DE 7 95510900 95510900 single base substitution T G intron_variant MALY-DE 7 95512331 95512331 single base substitution C A intron_variant MALY-DE 7 95517344 95517344 single base substitution T G intron_variant MALY-DE 7 95517762 95517762 single base substitution A G intron_variant MALY-DE 7 95520840 95520840 single base substitution A G intron_variant MALY-DE 7 95521462 95521462 single base substitution A T intron_variant MALY-DE 7 95523239 95523239 single base substitution A C intron_variant MALY-DE 7 95523710 95523710 single base substitution T G intron_variant MALY-DE 7 95526553 95526553 single base substitution T C intron_variant MALY-DE 7 95526772 95526772 single base substitution G A intron_variant MALY-DE 7 95528488 95528488 single base substitution T C intron_variant MALY-DE 7 95539972 95539972 single base substitution A C intron_variant MALY-DE 7 95540105 95540106 deletion of <=200bp CC - intron_variant MALY-DE 7 95542241 95542241 single base substitution A C intron_variant MALY-DE 7 95544354 95544354 single base substitution A G intron_variant MALY-DE 7 95545405 95545405 single base substitution A C intron_variant MALY-DE 7 95546164 95546164 single base substitution A C intron_variant MALY-DE 7 95547515 95547515 single base substitution T C intron_variant MALY-DE 7 95548548 95548548 deletion of <=200bp A - intron_variant MALY-DE 7 95550227 95550227 single base substitution T A intron_variant MALY-DE 7 95558043 95558043 single base substitution T C intron_variant MALY-DE 7 95565769 95565769 single base substitution C T intron_variant MALY-DE 7 95571609 95571609 single base substitution A C intron_variant MALY-DE 7 95574891 95574891 deletion of <=200bp A - intron_variant MALY-DE 7 95575118 95575118 single base substitution C T intron_variant MALY-DE 7 95575563 95575563 single base substitution C T intron_variant MALY-DE 7 95576884 95576884 single base substitution A G intron_variant MALY-DE 7 95577190 95577190 single base substitution C T intron_variant MALY-DE 7 95590702 95590702 single base substitution G T intron_variant MALY-DE 7 95592387 95592387 single base substitution T C intron_variant MALY-DE 7 95592792 95592792 single base substitution G A intron_variant MALY-DE 7 95594323 95594323 single base substitution C A intron_variant MALY-DE 7 95594632 95594632 single base substitution C T intron_variant MALY-DE 7 95595287 95595287 single base substitution A T intron_variant MALY-DE 7 95595451 95595451 single base substitution C T intron_variant MALY-DE 7 95596844 95596844 single base substitution C T intron_variant MALY-DE 7 95598742 95598742 single base substitution G A intron_variant MALY-DE 7 95601447 95601447 single base substitution C T intron_variant MALY-DE 7 95601795 95601795 single base substitution G C intron_variant MALY-DE 7 95602002 95602002 single base substitution T G intron_variant MALY-DE 7 95604943 95604943 single base substitution G A intron_variant MALY-DE 7 95606051 95606051 single base substitution G A intron_variant MALY-DE 7 95606837 95606837 single base substitution T C exon_variant MALY-DE 7 95606837 95606837 single base substitution T C synonymous_variant D148D 444T>C MALY-DE 7 95606837 95606837 single base substitution T C synonymous_variant D165D 495T>C MALY-DE 7 95606837 95606837 single base substitution T C synonymous_variant D168D 504T>C MALY-DE 7 95606837 95606837 single base substitution T C synonymous_variant D185D 555T>C MALY-DE 7 95609825 95609825 single base substitution G C intron_variant MALY-DE 7 95612532 95612534 deletion of <=200bp AGT - intron_variant MALY-DE 7 95614248 95614248 single base substitution C A exon_variant MALY-DE 7 95614248 95614248 single base substitution C A synonymous_variant I214I 642C>A MALY-DE 7 95614248 95614248 single base substitution C A synonymous_variant I231I 693C>A MALY-DE 7 95614248 95614248 single base substitution C A synonymous_variant I234I 702C>A MALY-DE 7 95614248 95614248 single base substitution C A synonymous_variant I251I 753C>A MALY-DE 7 95617671 95617671 insertion of <=200bp - A intron_variant MALY-DE 7 95618200 95618200 single base substitution A C intron_variant MALY-DE 7 95621930 95621930 single base substitution A G intron_variant MALY-DE 7 95626876 95626876 single base substitution T A intron_variant MALY-DE 7 95627913 95627913 single base substitution C T intron_variant MALY-DE 7 95628465 95628465 single base substitution G A intron_variant MALY-DE 7 95628890 95628890 deletion of <=200bp T - intron_variant MALY-DE 7 95632876 95632876 single base substitution A C intron_variant MALY-DE 7 95633151 95633151 single base substitution G A intron_variant MALY-DE 7 95633505 95633505 single base substitution G A intron_variant MALY-DE 7 95633955 95633955 single base substitution C G intron_variant MALY-DE 7 95637684 95637684 single base substitution G T intron_variant MALY-DE 7 95645986 95645986 single base substitution A C intron_variant MALY-DE 7 95647943 95647943 single base substitution A C intron_variant MALY-DE 7 95648591 95648591 single base substitution A G intron_variant MALY-DE 7 95651321 95651321 single base substitution T A intron_variant MALY-DE 7 95652182 95652184 deletion of <=200bp AAT - intron_variant MALY-DE 7 95652787 95652787 single base substitution A C intron_variant MALY-DE 7 95652917 95652917 single base substitution C T intron_variant MALY-DE 7 95654052 95654052 insertion of <=200bp - A intron_variant MALY-DE 7 95654638 95654638 single base substitution T G intron_variant MALY-DE 7 95655628 95655628 single base substitution A C intron_variant MALY-DE 7 95655746 95655746 single base substitution G A intron_variant MALY-DE 7 95656133 95656133 single base substitution C T intron_variant MALY-DE 7 95663336 95663336 single base substitution T A intron_variant MALY-DE 7 95663606 95663606 single base substitution T C intron_variant MALY-DE 7 95666810 95666810 single base substitution G A intron_variant MALY-DE 7 95669222 95669222 single base substitution A C intron_variant MALY-DE 7 95670041 95670041 single base substitution T C intron_variant MALY-DE 7 95671404 95671404 deletion of <=200bp A - intron_variant MALY-DE 7 95671878 95671878 single base substitution A G intron_variant MALY-DE 7 95672851 95672851 deletion of <=200bp A - intron_variant MALY-DE 7 95679785 95679785 single base substitution G T intron_variant MALY-DE 7 95680163 95680163 insertion of <=200bp - A intron_variant MALY-DE 7 95680556 95680556 single base substitution A T intron_variant MALY-DE 7 95686070 95686094 deletion of <=200bp GTATATATATATGCAGAAAGTTAAA - downstream_gene_variant MALY-DE 7 95686070 95686094 deletion of <=200bp GTATATATATATGCAGAAAGTTAAA - intron_variant MALY-DE 7 95688921 95688921 deletion of <=200bp A - downstream_gene_variant MALY-DE 7 95688921 95688921 deletion of <=200bp A - intron_variant MALY-DE 7 95691753 95691753 single base substitution T C intron_variant MALY-DE 7 95692802 95692802 single base substitution T G intron_variant MALY-DE 7 95693291 95693291 single base substitution G A intron_variant MALY-DE 7 95694941 95694941 single base substitution T A intron_variant MALY-DE 7 95698447 95698447 single base substitution C G intron_variant MALY-DE 7 95698460 95698460 single base substitution C T intron_variant MALY-DE 7 95699652 95699652 single base substitution A C intron_variant MALY-DE 7 95701740 95701740 deletion of <=200bp T - intron_variant MALY-DE 7 95702208 95702208 single base substitution A T intron_variant MALY-DE 7 95706012 95706012 single base substitution G A intron_variant MALY-DE 7 95706447 95706447 single base substitution A C intron_variant MALY-DE 7 95709766 95709766 single base substitution C T missense_variant S561L 1682C>T MALY-DE 7 95709766 95709766 single base substitution C T missense_variant S578L 1733C>T MALY-DE 7 95709766 95709766 single base substitution C T missense_variant S581L 1742C>T MALY-DE 7 95709766 95709766 single base substitution C T missense_variant S598L 1793C>T MALY-DE 7 95712944 95712944 single base substitution A G intron_variant MALY-DE 7 95718795 95718795 deletion of <=200bp A - intron_variant MALY-DE 7 95720616 95720616 single base substitution T G intron_variant MALY-DE 7 95721474 95721474 single base substitution T A intron_variant MALY-DE 7 95722185 95722185 single base substitution G A intron_variant MALY-DE 7 95723101 95723101 single base substitution T G intron_variant MALY-DE 7 95725144 95725144 deletion of <=200bp A - intron_variant MALY-DE 7 95731196 95731196 single base substitution C T downstream_gene_variant MALY-DE 7 95731196 95731196 single base substitution C T intron_variant MALY-DE 7 95738517 95738517 deletion of <=200bp T - intron_variant MALY-DE 7 95739669 95739669 single base substitution C G downstream_gene_variant MALY-DE 7 95744305 95744305 single base substitution T G downstream_gene_variant MELA-AU 7 95397414 95397414 single base substitution C T upstream_gene_variant MELA-AU 7 95397822 95397822 single base substitution C T upstream_gene_variant MELA-AU 7 95397928 95397928 single base substitution G A upstream_gene_variant MELA-AU 7 95398182 95398182 single base substitution C T upstream_gene_variant MELA-AU 7 95398891 95398891 single base substitution G A upstream_gene_variant MELA-AU 7 95398973 95398973 single base substitution G A upstream_gene_variant MELA-AU 7 95399032 95399032 single base substitution C T upstream_gene_variant MELA-AU 7 95399331 95399331 single base substitution C T upstream_gene_variant MELA-AU 7 95399438 95399438 single base substitution G A upstream_gene_variant MELA-AU 7 95399532 95399532 single base substitution G T upstream_gene_variant MELA-AU 7 95399552 95399552 single base substitution C T upstream_gene_variant MELA-AU 7 95399980 95399980 single base substitution G A upstream_gene_variant MELA-AU 7 95400063 95400063 single base substitution C T upstream_gene_variant MELA-AU 7 95400081 95400081 single base substitution C T upstream_gene_variant MELA-AU 7 95400308 95400308 single base substitution A C upstream_gene_variant MELA-AU 7 95400598 95400598 single base substitution C T upstream_gene_variant MELA-AU 7 95403502 95403502 single base substitution G A intron_variant MELA-AU 7 95403975 95403975 single base substitution C T intron_variant MELA-AU 7 95404154 95404154 single base substitution G A intron_variant MELA-AU 7 95404382 95404382 single base substitution G A intron_variant MELA-AU 7 95404596 95404596 single base substitution C T intron_variant MELA-AU 7 95404671 95404671 single base substitution C T intron_variant MELA-AU 7 95405273 95405273 single base substitution C T intron_variant MELA-AU 7 95405374 95405374 single base substitution C T intron_variant MELA-AU 7 95406490 95406490 single base substitution G C intron_variant MELA-AU 7 95406909 95406909 single base substitution C T intron_variant MELA-AU 7 95407018 95407018 single base substitution C T intron_variant MELA-AU 7 95407576 95407576 single base substitution C T intron_variant MELA-AU 7 95407941 95407941 single base substitution C T intron_variant MELA-AU 7 95408019 95408019 single base substitution G A intron_variant MELA-AU 7 95408919 95408919 single base substitution C T intron_variant MELA-AU 7 95409036 95409036 single base substitution C T intron_variant MELA-AU 7 95409066 95409066 single base substitution C T intron_variant MELA-AU 7 95409091 95409091 single base substitution C T intron_variant MELA-AU 7 95409510 95409510 single base substitution C T intron_variant MELA-AU 7 95409608 95409608 single base substitution G A intron_variant MELA-AU 7 95409887 95409887 single base substitution G A intron_variant MELA-AU 7 95409892 95409892 single base substitution A T intron_variant MELA-AU 7 95410043 95410043 single base substitution T C intron_variant MELA-AU 7 95410083 95410083 single base substitution C T intron_variant MELA-AU 7 95410174 95410174 single base substitution C T intron_variant MELA-AU 7 95410305 95410305 single base substitution G A intron_variant MELA-AU 7 95410488 95410488 single base substitution C T intron_variant MELA-AU 7 95410645 95410645 single base substitution T G intron_variant MELA-AU 7 95411508 95411508 single base substitution T C intron_variant MELA-AU 7 95411558 95411558 single base substitution G A intron_variant MELA-AU 7 95411576 95411576 single base substitution C T intron_variant MELA-AU 7 95411889 95411889 single base substitution C T intron_variant MELA-AU 7 95412115 95412115 single base substitution G A intron_variant MELA-AU 7 95412360 95412360 single base substitution G A intron_variant MELA-AU 7 95412914 95412914 deletion of <=200bp A - intron_variant MELA-AU 7 95413197 95413197 single base substitution C T intron_variant MELA-AU 7 95413410 95413410 single base substitution C T intron_variant MELA-AU 7 95413454 95413454 single base substitution C T intron_variant MELA-AU 7 95413666 95413672 deletion of <=200bp GAATGTT - intron_variant MELA-AU 7 95414157 95414157 single base substitution C T intron_variant MELA-AU 7 95414551 95414551 single base substitution C T intron_variant MELA-AU 7 95414854 95414854 single base substitution C G intron_variant MELA-AU 7 95414869 95414869 single base substitution C T intron_variant MELA-AU 7 95415103 95415103 single base substitution A G intron_variant MELA-AU 7 95415107 95415107 single base substitution A G intron_variant MELA-AU 7 95415559 95415559 single base substitution C T intron_variant MELA-AU 7 95415626 95415626 single base substitution C T intron_variant MELA-AU 7 95415682 95415682 single base substitution C T intron_variant MELA-AU 7 95415862 95415862 single base substitution C T intron_variant MELA-AU 7 95416052 95416052 single base substitution C T intron_variant MELA-AU 7 95416146 95416146 single base substitution G A intron_variant MELA-AU 7 95416223 95416223 single base substitution C T intron_variant MELA-AU 7 95416239 95416239 single base substitution C T intron_variant MELA-AU 7 95416635 95416635 single base substitution T C intron_variant MELA-AU 7 95417187 95417187 single base substitution G A intron_variant MELA-AU 7 95417692 95417692 single base substitution G A intron_variant MELA-AU 7 95418747 95418747 single base substitution C T intron_variant MELA-AU 7 95418796 95418796 deletion of <=200bp A - intron_variant MELA-AU 7 95419484 95419484 single base substitution C T intron_variant MELA-AU 7 95419509 95419509 single base substitution T A intron_variant MELA-AU 7 95419513 95419513 single base substitution C T intron_variant MELA-AU 7 95419533 95419533 single base substitution C T intron_variant MELA-AU 7 95419707 95419708 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 7 95419762 95419762 single base substitution C T intron_variant MELA-AU 7 95419768 95419768 single base substitution G A intron_variant MELA-AU 7 95419786 95419786 single base substitution C T intron_variant MELA-AU 7 95419900 95419900 single base substitution C T intron_variant MELA-AU 7 95420057 95420057 single base substitution A G intron_variant MELA-AU 7 95420372 95420372 single base substitution G A intron_variant MELA-AU 7 95420777 95420777 single base substitution T C intron_variant MELA-AU 7 95420914 95420914 single base substitution C T intron_variant MELA-AU 7 95420978 95420978 single base substitution C T intron_variant MELA-AU 7 95421056 95421056 single base substitution A T intron_variant MELA-AU 7 95421162 95421162 single base substitution T C intron_variant MELA-AU 7 95421255 95421255 single base substitution C T intron_variant MELA-AU 7 95421560 95421560 single base substitution G A intron_variant MELA-AU 7 95421936 95421936 single base substitution C T intron_variant MELA-AU 7 95422288 95422288 single base substitution C T intron_variant MELA-AU 7 95422357 95422357 single base substitution A T intron_variant MELA-AU 7 95422578 95422578 single base substitution G A intron_variant MELA-AU 7 95422844 95422844 single base substitution C T intron_variant MELA-AU 7 95422891 95422891 single base substitution C T intron_variant MELA-AU 7 95423071 95423071 single base substitution A G intron_variant MELA-AU 7 95423076 95423076 single base substitution G A intron_variant MELA-AU 7 95423400 95423400 single base substitution C T intron_variant MELA-AU 7 95423740 95423740 single base substitution C T intron_variant MELA-AU 7 95423793 95423793 single base substitution G A intron_variant MELA-AU 7 95423817 95423817 single base substitution C T intron_variant MELA-AU 7 95424228 95424228 single base substitution C T intron_variant MELA-AU 7 95424370 95424370 single base substitution C T intron_variant MELA-AU 7 95424610 95424610 single base substitution C T intron_variant MELA-AU 7 95424663 95424663 single base substitution C T intron_variant MELA-AU 7 95424664 95424664 single base substitution C T intron_variant MELA-AU 7 95424880 95424880 single base substitution G A intron_variant MELA-AU 7 95425078 95425078 single base substitution C T intron_variant MELA-AU 7 95425119 95425119 single base substitution G A intron_variant MELA-AU 7 95425208 95425208 single base substitution A T intron_variant MELA-AU 7 95425453 95425453 single base substitution C T intron_variant MELA-AU 7 95425539 95425539 single base substitution T C intron_variant MELA-AU 7 95425626 95425626 single base substitution C T intron_variant MELA-AU 7 95425704 95425704 single base substitution C T intron_variant MELA-AU 7 95425964 95425964 single base substitution C T intron_variant MELA-AU 7 95426351 95426351 single base substitution C T intron_variant MELA-AU 7 95426484 95426484 single base substitution G A intron_variant MELA-AU 7 95426994 95426994 single base substitution C T intron_variant MELA-AU 7 95427000 95427000 single base substitution A G intron_variant MELA-AU 7 95427042 95427042 single base substitution G A intron_variant MELA-AU 7 95427228 95427228 single base substitution G A intron_variant MELA-AU 7 95427421 95427421 single base substitution C T intron_variant MELA-AU 7 95428221 95428221 single base substitution G A intron_variant MELA-AU 7 95428852 95428852 single base substitution G A intron_variant MELA-AU 7 95428852 95428852 single base substitution G A upstream_gene_variant MELA-AU 7 95428976 95428976 single base substitution C T intron_variant MELA-AU 7 95428976 95428976 single base substitution C T upstream_gene_variant MELA-AU 7 95429078 95429078 single base substitution C T intron_variant MELA-AU 7 95429078 95429078 single base substitution C T upstream_gene_variant MELA-AU 7 95429316 95429317 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95429316 95429317 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 95429476 95429476 single base substitution G A intron_variant MELA-AU 7 95429476 95429476 single base substitution G A upstream_gene_variant MELA-AU 7 95429782 95429782 single base substitution G T intron_variant MELA-AU 7 95429782 95429782 single base substitution G T upstream_gene_variant MELA-AU 7 95429804 95429804 single base substitution G A intron_variant MELA-AU 7 95429804 95429804 single base substitution G A upstream_gene_variant MELA-AU 7 95429892 95429892 single base substitution G T intron_variant MELA-AU 7 95429892 95429892 single base substitution G T upstream_gene_variant MELA-AU 7 95429982 95429983 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 95429982 95429983 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 95431028 95431028 single base substitution G A intron_variant MELA-AU 7 95431028 95431028 single base substitution G A upstream_gene_variant MELA-AU 7 95431163 95431163 single base substitution G A intron_variant MELA-AU 7 95431163 95431163 single base substitution G A upstream_gene_variant MELA-AU 7 95431397 95431397 single base substitution C T intron_variant MELA-AU 7 95431397 95431397 single base substitution C T upstream_gene_variant MELA-AU 7 95431872 95431872 single base substitution C T intron_variant MELA-AU 7 95431872 95431872 single base substitution C T upstream_gene_variant MELA-AU 7 95431959 95431959 single base substitution A G intron_variant MELA-AU 7 95431959 95431959 single base substitution A G upstream_gene_variant MELA-AU 7 95432101 95432101 single base substitution T C 5_prime_UTR_variant MELA-AU 7 95432101 95432101 single base substitution T C intron_variant MELA-AU 7 95432101 95432101 single base substitution T C upstream_gene_variant MELA-AU 7 95432188 95432188 single base substitution C T intron_variant MELA-AU 7 95432188 95432188 single base substitution C T upstream_gene_variant MELA-AU 7 95432634 95432634 single base substitution C T intron_variant MELA-AU 7 95432634 95432634 single base substitution C T upstream_gene_variant MELA-AU 7 95432887 95432887 single base substitution A T intron_variant MELA-AU 7 95432887 95432887 single base substitution A T upstream_gene_variant MELA-AU 7 95432928 95432928 single base substitution C T intron_variant MELA-AU 7 95432928 95432928 single base substitution C T upstream_gene_variant MELA-AU 7 95433067 95433068 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95433067 95433068 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 95433287 95433287 single base substitution C T intron_variant MELA-AU 7 95433287 95433287 single base substitution C T upstream_gene_variant MELA-AU 7 95434137 95434137 single base substitution G A synonymous_variant R32R 96G>A MELA-AU 7 95434156 95434156 single base substitution C T splice_region_variant MELA-AU 7 95434157 95434157 single base substitution C T splice_region_variant MELA-AU 7 95434187 95434187 single base substitution G A intron_variant MELA-AU 7 95434246 95434246 single base substitution C T intron_variant MELA-AU 7 95434473 95434473 single base substitution C T intron_variant MELA-AU 7 95434571 95434571 single base substitution T G intron_variant MELA-AU 7 95434659 95434659 single base substitution C T intron_variant MELA-AU 7 95435081 95435081 single base substitution T A intron_variant MELA-AU 7 95435131 95435131 single base substitution C T intron_variant MELA-AU 7 95435304 95435304 single base substitution C T intron_variant MELA-AU 7 95435812 95435812 single base substitution G A intron_variant MELA-AU 7 95435892 95435892 single base substitution C T intron_variant MELA-AU 7 95435985 95435986 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95436138 95436138 single base substitution C G intron_variant MELA-AU 7 95436503 95436504 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95436572 95436572 single base substitution G A intron_variant MELA-AU 7 95436838 95436838 single base substitution C T intron_variant MELA-AU 7 95437067 95437067 single base substitution C T intron_variant MELA-AU 7 95437681 95437681 single base substitution G A intron_variant MELA-AU 7 95437922 95437922 single base substitution G A intron_variant MELA-AU 7 95438313 95438313 single base substitution G A intron_variant MELA-AU 7 95438764 95438764 single base substitution A G intron_variant MELA-AU 7 95438893 95438893 single base substitution C T intron_variant MELA-AU 7 95439006 95439006 single base substitution T C intron_variant MELA-AU 7 95439083 95439083 single base substitution C T intron_variant MELA-AU 7 95439197 95439197 single base substitution C T intron_variant MELA-AU 7 95439279 95439279 single base substitution C T intron_variant MELA-AU 7 95440563 95440563 single base substitution C T intron_variant MELA-AU 7 95440883 95440883 single base substitution A C intron_variant MELA-AU 7 95441527 95441527 single base substitution G A intron_variant MELA-AU 7 95441802 95441802 single base substitution C T intron_variant MELA-AU 7 95442380 95442380 single base substitution C T intron_variant MELA-AU 7 95442600 95442600 single base substitution C T downstream_gene_variant MELA-AU 7 95442600 95442600 single base substitution C T missense_variant P106S 316C>T MELA-AU 7 95442600 95442600 single base substitution C T missense_variant P89S 265C>T MELA-AU 7 95442649 95442649 single base substitution G A downstream_gene_variant MELA-AU 7 95442649 95442649 single base substitution G A missense_variant R105K 314G>A MELA-AU 7 95442649 95442649 single base substitution G A missense_variant R122K 365G>A MELA-AU 7 95443071 95443071 single base substitution C T downstream_gene_variant MELA-AU 7 95443071 95443071 single base substitution C T intron_variant MELA-AU 7 95443096 95443096 single base substitution T C downstream_gene_variant MELA-AU 7 95443096 95443096 single base substitution T C intron_variant MELA-AU 7 95443325 95443325 single base substitution C T downstream_gene_variant MELA-AU 7 95443325 95443325 single base substitution C T intron_variant MELA-AU 7 95443356 95443356 single base substitution C T downstream_gene_variant MELA-AU 7 95443356 95443356 single base substitution C T intron_variant MELA-AU 7 95443519 95443519 single base substitution C T downstream_gene_variant MELA-AU 7 95443519 95443519 single base substitution C T intron_variant MELA-AU 7 95443800 95443800 single base substitution C G downstream_gene_variant MELA-AU 7 95443800 95443800 single base substitution C G intron_variant MELA-AU 7 95443840 95443840 single base substitution T A downstream_gene_variant MELA-AU 7 95443840 95443840 single base substitution T A intron_variant MELA-AU 7 95444820 95444820 single base substitution G A downstream_gene_variant MELA-AU 7 95444820 95444820 single base substitution G A intron_variant MELA-AU 7 95445341 95445341 single base substitution A T downstream_gene_variant MELA-AU 7 95445341 95445341 single base substitution A T intron_variant MELA-AU 7 95445365 95445365 single base substitution C T downstream_gene_variant MELA-AU 7 95445365 95445365 single base substitution C T intron_variant MELA-AU 7 95445461 95445461 single base substitution C T downstream_gene_variant MELA-AU 7 95445461 95445461 single base substitution C T intron_variant MELA-AU 7 95445542 95445542 single base substitution C T downstream_gene_variant MELA-AU 7 95445542 95445542 single base substitution C T intron_variant MELA-AU 7 95445644 95445644 single base substitution G A downstream_gene_variant MELA-AU 7 95445644 95445644 single base substitution G A intron_variant MELA-AU 7 95445852 95445852 single base substitution G A downstream_gene_variant MELA-AU 7 95445852 95445852 single base substitution G A intron_variant MELA-AU 7 95445900 95445900 single base substitution C T downstream_gene_variant MELA-AU 7 95445900 95445900 single base substitution C T intron_variant MELA-AU 7 95446203 95446203 single base substitution G A downstream_gene_variant MELA-AU 7 95446203 95446203 single base substitution G A intron_variant MELA-AU 7 95446591 95446591 single base substitution G A downstream_gene_variant MELA-AU 7 95446591 95446591 single base substitution G A intron_variant MELA-AU 7 95446887 95446887 single base substitution C T downstream_gene_variant MELA-AU 7 95446887 95446887 single base substitution C T intron_variant MELA-AU 7 95446902 95446902 single base substitution C T downstream_gene_variant MELA-AU 7 95446902 95446902 single base substitution C T intron_variant MELA-AU 7 95447699 95447699 single base substitution G A intron_variant MELA-AU 7 95447704 95447704 single base substitution C T intron_variant MELA-AU 7 95447800 95447800 single base substitution T C intron_variant MELA-AU 7 95447832 95447832 single base substitution C T intron_variant MELA-AU 7 95447832 95447832 single base substitution C T synonymous_variant S112S 336C>T MELA-AU 7 95448127 95448127 single base substitution G A 3_prime_UTR_variant MELA-AU 7 95448127 95448127 single base substitution G A intron_variant MELA-AU 7 95448188 95448189 multiple base substitution (>=2bp and <=200bp) TA GT 3_prime_UTR_variant MELA-AU 7 95448188 95448189 multiple base substitution (>=2bp and <=200bp) TA GT intron_variant MELA-AU 7 95448238 95448238 single base substitution C T 3_prime_UTR_variant MELA-AU 7 95448238 95448238 single base substitution C T intron_variant MELA-AU 7 95448249 95448249 single base substitution C T 3_prime_UTR_variant MELA-AU 7 95448249 95448249 single base substitution C T intron_variant MELA-AU 7 95448307 95448307 single base substitution C T downstream_gene_variant MELA-AU 7 95448307 95448307 single base substitution C T intron_variant MELA-AU 7 95448329 95448329 single base substitution C T downstream_gene_variant MELA-AU 7 95448329 95448329 single base substitution C T intron_variant MELA-AU 7 95448628 95448628 single base substitution C T downstream_gene_variant MELA-AU 7 95448628 95448628 single base substitution C T intron_variant MELA-AU 7 95448687 95448687 single base substitution G A downstream_gene_variant MELA-AU 7 95448687 95448687 single base substitution G A intron_variant MELA-AU 7 95448832 95448832 single base substitution C T downstream_gene_variant MELA-AU 7 95448832 95448832 single base substitution C T intron_variant MELA-AU 7 95449098 95449098 single base substitution A C downstream_gene_variant MELA-AU 7 95449098 95449098 single base substitution A C intron_variant MELA-AU 7 95449536 95449536 single base substitution C T downstream_gene_variant MELA-AU 7 95449536 95449536 single base substitution C T intron_variant MELA-AU 7 95449559 95449559 single base substitution G A downstream_gene_variant MELA-AU 7 95449559 95449559 single base substitution G A intron_variant MELA-AU 7 95449779 95449779 single base substitution C T downstream_gene_variant MELA-AU 7 95449779 95449779 single base substitution C T intron_variant MELA-AU 7 95449780 95449780 single base substitution C T downstream_gene_variant MELA-AU 7 95449780 95449780 single base substitution C T intron_variant MELA-AU 7 95449807 95449807 single base substitution C T downstream_gene_variant MELA-AU 7 95449807 95449807 single base substitution C T intron_variant MELA-AU 7 95449865 95449865 single base substitution G C downstream_gene_variant MELA-AU 7 95449865 95449865 single base substitution G C intron_variant MELA-AU 7 95449905 95449905 single base substitution C T downstream_gene_variant MELA-AU 7 95449905 95449905 single base substitution C T intron_variant MELA-AU 7 95450395 95450395 single base substitution T A downstream_gene_variant MELA-AU 7 95450395 95450395 single base substitution T A intron_variant MELA-AU 7 95450565 95450565 single base substitution G A downstream_gene_variant MELA-AU 7 95450565 95450565 single base substitution G A intron_variant MELA-AU 7 95451081 95451081 single base substitution C T downstream_gene_variant MELA-AU 7 95451081 95451081 single base substitution C T intron_variant MELA-AU 7 95451124 95451124 single base substitution A T downstream_gene_variant MELA-AU 7 95451124 95451124 single base substitution A T intron_variant MELA-AU 7 95451394 95451394 single base substitution G A downstream_gene_variant MELA-AU 7 95451394 95451394 single base substitution G A intron_variant MELA-AU 7 95451578 95451578 single base substitution G A downstream_gene_variant MELA-AU 7 95451578 95451578 single base substitution G A intron_variant MELA-AU 7 95451997 95451997 single base substitution C T downstream_gene_variant MELA-AU 7 95451997 95451997 single base substitution C T intron_variant MELA-AU 7 95452106 95452106 single base substitution C T downstream_gene_variant MELA-AU 7 95452106 95452106 single base substitution C T intron_variant MELA-AU 7 95452429 95452429 single base substitution A T downstream_gene_variant MELA-AU 7 95452429 95452429 single base substitution A T intron_variant MELA-AU 7 95452603 95452603 single base substitution C T downstream_gene_variant MELA-AU 7 95452603 95452603 single base substitution C T intron_variant MELA-AU 7 95452622 95452622 single base substitution G A downstream_gene_variant MELA-AU 7 95452622 95452622 single base substitution G A intron_variant MELA-AU 7 95452846 95452846 single base substitution C T downstream_gene_variant MELA-AU 7 95452846 95452846 single base substitution C T intron_variant MELA-AU 7 95453153 95453154 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 95453153 95453154 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95453500 95453500 single base substitution C T intron_variant MELA-AU 7 95453509 95453509 single base substitution G C intron_variant MELA-AU 7 95453847 95453847 single base substitution T A intron_variant MELA-AU 7 95453925 95453925 single base substitution G A intron_variant MELA-AU 7 95453960 95453960 single base substitution T C intron_variant MELA-AU 7 95454014 95454015 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95454309 95454309 single base substitution G A intron_variant MELA-AU 7 95454361 95454361 single base substitution C T intron_variant MELA-AU 7 95454747 95454747 single base substitution C T intron_variant MELA-AU 7 95454995 95454995 single base substitution C T intron_variant MELA-AU 7 95455035 95455035 single base substitution C T intron_variant MELA-AU 7 95455274 95455274 single base substitution T C intron_variant MELA-AU 7 95455916 95455916 single base substitution C T intron_variant MELA-AU 7 95456337 95456337 single base substitution G A intron_variant MELA-AU 7 95456357 95456357 single base substitution G A intron_variant MELA-AU 7 95456529 95456529 single base substitution C T intron_variant MELA-AU 7 95456910 95456910 single base substitution T G intron_variant MELA-AU 7 95457637 95457637 single base substitution C T downstream_gene_variant MELA-AU 7 95457637 95457637 single base substitution C T intron_variant MELA-AU 7 95457748 95457748 single base substitution T G downstream_gene_variant MELA-AU 7 95457748 95457748 single base substitution T G intron_variant MELA-AU 7 95457915 95457915 single base substitution C T downstream_gene_variant MELA-AU 7 95457915 95457915 single base substitution C T intron_variant MELA-AU 7 95457916 95457916 single base substitution C T downstream_gene_variant MELA-AU 7 95457916 95457916 single base substitution C T intron_variant MELA-AU 7 95458106 95458106 single base substitution A T downstream_gene_variant MELA-AU 7 95458106 95458106 single base substitution A T intron_variant MELA-AU 7 95458466 95458466 single base substitution C T downstream_gene_variant MELA-AU 7 95458466 95458466 single base substitution C T intron_variant MELA-AU 7 95458582 95458583 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 95458582 95458583 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95458613 95458613 single base substitution C T downstream_gene_variant MELA-AU 7 95458613 95458613 single base substitution C T intron_variant MELA-AU 7 95459017 95459017 single base substitution A T downstream_gene_variant MELA-AU 7 95459017 95459017 single base substitution A T intron_variant MELA-AU 7 95459370 95459370 single base substitution T A downstream_gene_variant MELA-AU 7 95459370 95459370 single base substitution T A intron_variant MELA-AU 7 95459427 95459427 single base substitution C T downstream_gene_variant MELA-AU 7 95459427 95459427 single base substitution C T intron_variant MELA-AU 7 95459443 95459443 single base substitution C T downstream_gene_variant MELA-AU 7 95459443 95459443 single base substitution C T intron_variant MELA-AU 7 95459596 95459596 single base substitution G A downstream_gene_variant MELA-AU 7 95459596 95459596 single base substitution G A intron_variant MELA-AU 7 95459657 95459657 single base substitution C T downstream_gene_variant MELA-AU 7 95459657 95459657 single base substitution C T intron_variant MELA-AU 7 95460268 95460268 single base substitution C T downstream_gene_variant MELA-AU 7 95460268 95460268 single base substitution C T intron_variant MELA-AU 7 95460430 95460430 single base substitution A G downstream_gene_variant MELA-AU 7 95460430 95460430 single base substitution A G intron_variant MELA-AU 7 95460597 95460597 single base substitution G A downstream_gene_variant MELA-AU 7 95460597 95460597 single base substitution G A intron_variant MELA-AU 7 95460650 95460650 single base substitution C T downstream_gene_variant MELA-AU 7 95460650 95460650 single base substitution C T intron_variant MELA-AU 7 95460844 95460844 single base substitution G A downstream_gene_variant MELA-AU 7 95460844 95460844 single base substitution G A intron_variant MELA-AU 7 95460980 95460980 single base substitution C A downstream_gene_variant MELA-AU 7 95460980 95460980 single base substitution C A intron_variant MELA-AU 7 95461223 95461223 single base substitution G A downstream_gene_variant MELA-AU 7 95461223 95461223 single base substitution G A intron_variant MELA-AU 7 95462183 95462183 single base substitution C T downstream_gene_variant MELA-AU 7 95462183 95462183 single base substitution C T intron_variant MELA-AU 7 95462183 95462183 single base substitution C T upstream_gene_variant MELA-AU 7 95462239 95462239 single base substitution C T downstream_gene_variant MELA-AU 7 95462239 95462239 single base substitution C T intron_variant MELA-AU 7 95462239 95462239 single base substitution C T upstream_gene_variant MELA-AU 7 95463276 95463276 single base substitution C T intron_variant MELA-AU 7 95463276 95463276 single base substitution C T upstream_gene_variant MELA-AU 7 95464281 95464281 single base substitution C T intron_variant MELA-AU 7 95464281 95464281 single base substitution C T upstream_gene_variant MELA-AU 7 95465318 95465318 single base substitution C T intron_variant MELA-AU 7 95465318 95465318 single base substitution C T upstream_gene_variant MELA-AU 7 95465564 95465564 single base substitution G A intron_variant MELA-AU 7 95465564 95465564 single base substitution G A upstream_gene_variant MELA-AU 7 95465942 95465942 single base substitution C T intron_variant MELA-AU 7 95465942 95465942 single base substitution C T upstream_gene_variant MELA-AU 7 95466127 95466127 single base substitution C T intron_variant MELA-AU 7 95466127 95466127 single base substitution C T upstream_gene_variant MELA-AU 7 95466954 95466954 single base substitution C T exon_variant MELA-AU 7 95466954 95466954 single base substitution C T intron_variant MELA-AU 7 95466987 95466987 single base substitution C T intron_variant MELA-AU 7 95467304 95467304 single base substitution C T intron_variant MELA-AU 7 95467310 95467310 single base substitution C T intron_variant MELA-AU 7 95467423 95467423 single base substitution C T intron_variant MELA-AU 7 95467431 95467431 single base substitution G A intron_variant MELA-AU 7 95467500 95467500 single base substitution C T intron_variant MELA-AU 7 95467556 95467556 single base substitution C T intron_variant MELA-AU 7 95467620 95467620 single base substitution C T intron_variant MELA-AU 7 95467691 95467691 single base substitution C T intron_variant MELA-AU 7 95467733 95467733 single base substitution C T intron_variant MELA-AU 7 95467871 95467871 single base substitution C T intron_variant MELA-AU 7 95468022 95468022 single base substitution C T intron_variant MELA-AU 7 95468033 95468033 single base substitution C T intron_variant MELA-AU 7 95468059 95468059 single base substitution C T intron_variant MELA-AU 7 95468568 95468568 single base substitution C T intron_variant MELA-AU 7 95469214 95469214 single base substitution C T intron_variant MELA-AU 7 95469310 95469310 single base substitution C G intron_variant MELA-AU 7 95469438 95469438 single base substitution C T intron_variant MELA-AU 7 95469458 95469458 single base substitution C T intron_variant MELA-AU 7 95469585 95469585 single base substitution C T intron_variant MELA-AU 7 95469713 95469713 single base substitution C T intron_variant MELA-AU 7 95469757 95469757 single base substitution C T intron_variant MELA-AU 7 95469835 95469835 single base substitution C T intron_variant MELA-AU 7 95470074 95470074 single base substitution C T intron_variant MELA-AU 7 95470265 95470265 single base substitution C T intron_variant MELA-AU 7 95470478 95470478 single base substitution A C intron_variant MELA-AU 7 95470713 95470713 single base substitution C T intron_variant MELA-AU 7 95471322 95471322 single base substitution C T intron_variant MELA-AU 7 95471385 95471386 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 95471492 95471492 single base substitution G A intron_variant MELA-AU 7 95471930 95471930 single base substitution C T intron_variant MELA-AU 7 95472080 95472080 single base substitution C T intron_variant MELA-AU 7 95472110 95472110 single base substitution G A intron_variant MELA-AU 7 95472360 95472360 single base substitution C T intron_variant MELA-AU 7 95472503 95472503 single base substitution C T intron_variant MELA-AU 7 95472511 95472511 single base substitution C T intron_variant MELA-AU 7 95472512 95472512 single base substitution C T intron_variant MELA-AU 7 95472729 95472729 single base substitution G A intron_variant MELA-AU 7 95474042 95474042 single base substitution G A intron_variant MELA-AU 7 95474156 95474156 single base substitution C T intron_variant MELA-AU 7 95474224 95474224 single base substitution C T intron_variant MELA-AU 7 95474468 95474468 single base substitution C T intron_variant MELA-AU 7 95475054 95475054 single base substitution C T intron_variant MELA-AU 7 95476121 95476121 single base substitution C T intron_variant MELA-AU 7 95476282 95476282 single base substitution C T intron_variant MELA-AU 7 95476438 95476438 single base substitution G A intron_variant MELA-AU 7 95476467 95476467 single base substitution C T intron_variant MELA-AU 7 95476479 95476479 single base substitution C T intron_variant MELA-AU 7 95476513 95476513 single base substitution T A intron_variant MELA-AU 7 95476722 95476722 single base substitution T A intron_variant MELA-AU 7 95476732 95476732 single base substitution C T intron_variant MELA-AU 7 95476788 95476788 single base substitution C T intron_variant MELA-AU 7 95477154 95477154 single base substitution C T intron_variant MELA-AU 7 95477228 95477228 single base substitution C T intron_variant MELA-AU 7 95477488 95477488 single base substitution C T intron_variant MELA-AU 7 95477934 95477934 single base substitution C T intron_variant MELA-AU 7 95477963 95477963 single base substitution C T intron_variant MELA-AU 7 95478148 95478148 single base substitution T C intron_variant MELA-AU 7 95478594 95478594 single base substitution C T intron_variant MELA-AU 7 95479227 95479227 single base substitution C T intron_variant MELA-AU 7 95479420 95479420 single base substitution G A intron_variant MELA-AU 7 95479689 95479689 single base substitution C T intron_variant MELA-AU 7 95479945 95479945 single base substitution C T intron_variant MELA-AU 7 95480107 95480107 single base substitution C T intron_variant MELA-AU 7 95480464 95480464 single base substitution C T intron_variant MELA-AU 7 95480852 95480852 single base substitution C T intron_variant MELA-AU 7 95480903 95480903 single base substitution G A intron_variant MELA-AU 7 95481023 95481023 single base substitution C T intron_variant MELA-AU 7 95481282 95481282 single base substitution C T intron_variant MELA-AU 7 95481289 95481289 single base substitution C T intron_variant MELA-AU 7 95481575 95481575 single base substitution C T intron_variant MELA-AU 7 95481700 95481700 single base substitution C T intron_variant MELA-AU 7 95481702 95481702 single base substitution C T intron_variant MELA-AU 7 95482259 95482259 single base substitution T C intron_variant MELA-AU 7 95482296 95482296 single base substitution G A intron_variant MELA-AU 7 95482377 95482377 single base substitution G A intron_variant MELA-AU 7 95482399 95482399 single base substitution T G intron_variant MELA-AU 7 95482457 95482457 deletion of <=200bp T - intron_variant MELA-AU 7 95482672 95482672 single base substitution C T intron_variant MELA-AU 7 95483195 95483196 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95483202 95483203 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 7 95483395 95483395 single base substitution A G intron_variant MELA-AU 7 95483534 95483534 single base substitution C T intron_variant MELA-AU 7 95483643 95483643 single base substitution C T intron_variant MELA-AU 7 95484058 95484058 single base substitution C T intron_variant MELA-AU 7 95484251 95484251 single base substitution G A intron_variant MELA-AU 7 95484641 95484641 single base substitution C T intron_variant MELA-AU 7 95484879 95484879 single base substitution G A intron_variant MELA-AU 7 95484939 95484939 single base substitution C T intron_variant MELA-AU 7 95484940 95484940 single base substitution C T intron_variant MELA-AU 7 95485079 95485079 single base substitution G A intron_variant MELA-AU 7 95485108 95485108 single base substitution A T intron_variant MELA-AU 7 95485184 95485184 single base substitution T G intron_variant MELA-AU 7 95485308 95485308 single base substitution C G intron_variant MELA-AU 7 95485334 95485334 single base substitution T A intron_variant MELA-AU 7 95485730 95485730 single base substitution C T intron_variant MELA-AU 7 95486117 95486117 single base substitution C T intron_variant MELA-AU 7 95487061 95487061 single base substitution G A intron_variant MELA-AU 7 95487285 95487285 single base substitution C T intron_variant MELA-AU 7 95487520 95487520 single base substitution C T intron_variant MELA-AU 7 95487802 95487802 single base substitution C T intron_variant MELA-AU 7 95487969 95487969 single base substitution T C intron_variant MELA-AU 7 95488006 95488007 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 7 95488222 95488222 single base substitution T A intron_variant MELA-AU 7 95488340 95488340 single base substitution C T intron_variant MELA-AU 7 95488426 95488426 single base substitution C T intron_variant MELA-AU 7 95488527 95488527 single base substitution C T intron_variant MELA-AU 7 95488706 95488717 deletion of <=200bp AGGTCATGCATC - intron_variant MELA-AU 7 95488834 95488834 single base substitution G A intron_variant MELA-AU 7 95489391 95489391 single base substitution C T intron_variant MELA-AU 7 95489587 95489587 single base substitution G A intron_variant MELA-AU 7 95489678 95489678 single base substitution C T intron_variant MELA-AU 7 95489776 95489776 single base substitution G A intron_variant MELA-AU 7 95489954 95489954 single base substitution T C intron_variant MELA-AU 7 95490071 95490071 single base substitution C T intron_variant MELA-AU 7 95490126 95490126 single base substitution G A intron_variant MELA-AU 7 95490479 95490479 single base substitution T C intron_variant MELA-AU 7 95490957 95490957 single base substitution G A intron_variant MELA-AU 7 95491276 95491276 single base substitution G A intron_variant MELA-AU 7 95491513 95491513 single base substitution G A intron_variant MELA-AU 7 95491631 95491631 single base substitution T G intron_variant MELA-AU 7 95491783 95491783 single base substitution C T intron_variant MELA-AU 7 95492093 95492093 single base substitution C T intron_variant MELA-AU 7 95492473 95492473 single base substitution C T intron_variant MELA-AU 7 95492756 95492756 single base substitution G A intron_variant MELA-AU 7 95492917 95492917 single base substitution C T intron_variant MELA-AU 7 95493008 95493008 single base substitution C A intron_variant MELA-AU 7 95493270 95493270 single base substitution C T intron_variant MELA-AU 7 95493386 95493386 single base substitution C T intron_variant MELA-AU 7 95493654 95493654 single base substitution T G intron_variant MELA-AU 7 95493928 95493928 single base substitution C T intron_variant MELA-AU 7 95494604 95494604 single base substitution C T intron_variant MELA-AU 7 95494611 95494611 single base substitution T A intron_variant MELA-AU 7 95495826 95495826 single base substitution T C intron_variant MELA-AU 7 95495871 95495871 single base substitution G A intron_variant MELA-AU 7 95495941 95495941 single base substitution C T intron_variant MELA-AU 7 95496419 95496419 single base substitution C T intron_variant MELA-AU 7 95496591 95496591 single base substitution G A intron_variant MELA-AU 7 95497322 95497322 single base substitution C T intron_variant MELA-AU 7 95497325 95497325 single base substitution C T intron_variant MELA-AU 7 95498647 95498647 single base substitution A G intron_variant MELA-AU 7 95498713 95498713 single base substitution T C intron_variant MELA-AU 7 95498829 95498829 single base substitution C T intron_variant MELA-AU 7 95498831 95498831 single base substitution C T intron_variant MELA-AU 7 95498921 95498921 single base substitution G A intron_variant MELA-AU 7 95499475 95499475 single base substitution G A intron_variant MELA-AU 7 95499550 95499550 single base substitution G A intron_variant MELA-AU 7 95499698 95499698 single base substitution C T intron_variant MELA-AU 7 95499946 95499946 single base substitution C T intron_variant MELA-AU 7 95500038 95500038 single base substitution A G intron_variant MELA-AU 7 95500241 95500241 single base substitution C T intron_variant MELA-AU 7 95500531 95500531 single base substitution G C intron_variant MELA-AU 7 95500699 95500699 single base substitution A T intron_variant MELA-AU 7 95500758 95500758 single base substitution G A intron_variant MELA-AU 7 95500764 95500764 single base substitution C T intron_variant MELA-AU 7 95500768 95500768 single base substitution A G intron_variant MELA-AU 7 95501032 95501032 single base substitution C T intron_variant MELA-AU 7 95502107 95502107 single base substitution C T intron_variant MELA-AU 7 95502339 95502339 single base substitution C T intron_variant MELA-AU 7 95502845 95502845 single base substitution G A intron_variant MELA-AU 7 95502862 95502862 single base substitution G A intron_variant MELA-AU 7 95503304 95503304 single base substitution C T intron_variant MELA-AU 7 95503882 95503882 single base substitution G A intron_variant MELA-AU 7 95503903 95503903 single base substitution G A intron_variant MELA-AU 7 95503950 95503950 single base substitution G A intron_variant MELA-AU 7 95504331 95504331 single base substitution C T intron_variant MELA-AU 7 95504467 95504467 single base substitution G A intron_variant MELA-AU 7 95505189 95505189 single base substitution C T intron_variant MELA-AU 7 95505479 95505479 single base substitution C T intron_variant MELA-AU 7 95505724 95505724 single base substitution C T intron_variant MELA-AU 7 95506043 95506043 single base substitution C T intron_variant MELA-AU 7 95506362 95506362 single base substitution C T intron_variant MELA-AU 7 95506699 95506699 single base substitution G A intron_variant MELA-AU 7 95506824 95506824 single base substitution G A intron_variant MELA-AU 7 95506870 95506870 single base substitution G A intron_variant MELA-AU 7 95506880 95506880 single base substitution G A intron_variant MELA-AU 7 95507398 95507399 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95507495 95507495 single base substitution C T intron_variant MELA-AU 7 95507759 95507759 single base substitution C T intron_variant MELA-AU 7 95508202 95508202 single base substitution C T intron_variant MELA-AU 7 95508392 95508392 single base substitution G A intron_variant MELA-AU 7 95508599 95508599 single base substitution C T intron_variant MELA-AU 7 95508681 95508681 single base substitution C T intron_variant MELA-AU 7 95509216 95509216 single base substitution C T intron_variant MELA-AU 7 95509655 95509655 single base substitution C T intron_variant MELA-AU 7 95509756 95509756 single base substitution C T intron_variant MELA-AU 7 95509812 95509812 single base substitution C T intron_variant MELA-AU 7 95510239 95510239 single base substitution C T intron_variant MELA-AU 7 95510351 95510351 single base substitution G A intron_variant MELA-AU 7 95511422 95511422 single base substitution C T intron_variant MELA-AU 7 95511740 95511740 single base substitution T C intron_variant MELA-AU 7 95511999 95511999 single base substitution C T intron_variant MELA-AU 7 95512771 95512771 single base substitution A G intron_variant MELA-AU 7 95514804 95514804 single base substitution C T intron_variant MELA-AU 7 95514865 95514865 single base substitution A T intron_variant MELA-AU 7 95515056 95515056 single base substitution C T intron_variant MELA-AU 7 95515313 95515313 single base substitution G A intron_variant MELA-AU 7 95515372 95515372 single base substitution T A intron_variant MELA-AU 7 95515551 95515551 single base substitution C T intron_variant MELA-AU 7 95515872 95515872 single base substitution C T intron_variant MELA-AU 7 95516432 95516432 single base substitution C T intron_variant MELA-AU 7 95516950 95516950 single base substitution G A intron_variant MELA-AU 7 95517027 95517027 single base substitution C T intron_variant MELA-AU 7 95517275 95517275 single base substitution G A intron_variant MELA-AU 7 95517453 95517453 single base substitution G A intron_variant MELA-AU 7 95517541 95517541 single base substitution G A intron_variant MELA-AU 7 95517663 95517663 single base substitution C T intron_variant MELA-AU 7 95517889 95517889 single base substitution A T intron_variant MELA-AU 7 95517993 95517993 single base substitution C T intron_variant MELA-AU 7 95519026 95519026 single base substitution C T intron_variant MELA-AU 7 95520379 95520379 single base substitution C T intron_variant MELA-AU 7 95520553 95520553 single base substitution G A intron_variant MELA-AU 7 95520894 95520894 single base substitution G A intron_variant MELA-AU 7 95521099 95521099 single base substitution G A intron_variant MELA-AU 7 95521162 95521162 single base substitution C T intron_variant MELA-AU 7 95521372 95521372 single base substitution C T intron_variant MELA-AU 7 95521543 95521543 single base substitution G A intron_variant MELA-AU 7 95521582 95521582 single base substitution G T intron_variant MELA-AU 7 95521633 95521633 single base substitution T C intron_variant MELA-AU 7 95522494 95522494 single base substitution T C intron_variant MELA-AU 7 95522655 95522655 single base substitution C T intron_variant MELA-AU 7 95522873 95522873 single base substitution C T intron_variant MELA-AU 7 95523330 95523330 single base substitution C T intron_variant MELA-AU 7 95524041 95524041 single base substitution C T intron_variant MELA-AU 7 95524092 95524092 single base substitution G A intron_variant MELA-AU 7 95524291 95524291 single base substitution C T intron_variant MELA-AU 7 95524465 95524465 single base substitution G A intron_variant MELA-AU 7 95525028 95525028 single base substitution G C intron_variant MELA-AU 7 95525777 95525777 single base substitution C T intron_variant MELA-AU 7 95526781 95526781 single base substitution C T intron_variant MELA-AU 7 95526863 95526863 single base substitution A C intron_variant MELA-AU 7 95527645 95527645 single base substitution C T intron_variant MELA-AU 7 95528076 95528076 single base substitution C T intron_variant MELA-AU 7 95528263 95528263 single base substitution G A intron_variant MELA-AU 7 95528765 95528765 single base substitution C T intron_variant MELA-AU 7 95529027 95529027 single base substitution C T intron_variant MELA-AU 7 95529956 95529956 single base substitution A G intron_variant MELA-AU 7 95530558 95530558 single base substitution C T intron_variant MELA-AU 7 95530725 95530725 single base substitution A G intron_variant MELA-AU 7 95531126 95531126 single base substitution G A intron_variant MELA-AU 7 95531226 95531226 single base substitution C T intron_variant MELA-AU 7 95531227 95531227 single base substitution C T intron_variant MELA-AU 7 95531482 95531482 single base substitution T G intron_variant MELA-AU 7 95531496 95531496 single base substitution G A intron_variant MELA-AU 7 95531550 95531550 single base substitution C T intron_variant MELA-AU 7 95532252 95532252 single base substitution C T intron_variant MELA-AU 7 95533071 95533071 single base substitution G A intron_variant MELA-AU 7 95533157 95533157 single base substitution C T intron_variant MELA-AU 7 95533870 95533870 single base substitution T C intron_variant MELA-AU 7 95534068 95534068 single base substitution C T intron_variant MELA-AU 7 95534166 95534166 single base substitution T C intron_variant MELA-AU 7 95534688 95534688 single base substitution C T intron_variant MELA-AU 7 95534780 95534780 single base substitution T G intron_variant MELA-AU 7 95534976 95534976 single base substitution G A intron_variant MELA-AU 7 95535314 95535314 single base substitution C T intron_variant MELA-AU 7 95535491 95535491 single base substitution C T intron_variant MELA-AU 7 95535987 95535987 single base substitution T A intron_variant MELA-AU 7 95536246 95536246 single base substitution G A intron_variant MELA-AU 7 95536312 95536312 single base substitution C T intron_variant MELA-AU 7 95536534 95536534 single base substitution G A intron_variant MELA-AU 7 95536834 95536835 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95536968 95536968 single base substitution C T intron_variant MELA-AU 7 95537435 95537435 single base substitution C T intron_variant MELA-AU 7 95538072 95538072 single base substitution G A intron_variant MELA-AU 7 95538166 95538166 single base substitution C T intron_variant MELA-AU 7 95538994 95538994 single base substitution G A intron_variant MELA-AU 7 95539269 95539269 single base substitution G A intron_variant MELA-AU 7 95539391 95539391 single base substitution C T intron_variant MELA-AU 7 95539409 95539409 single base substitution G A intron_variant MELA-AU 7 95539410 95539410 single base substitution G C intron_variant MELA-AU 7 95540215 95540215 single base substitution C T intron_variant MELA-AU 7 95540286 95540286 deletion of <=200bp T - intron_variant MELA-AU 7 95540462 95540462 single base substitution A C intron_variant MELA-AU 7 95540683 95540683 single base substitution C T intron_variant MELA-AU 7 95541105 95541105 single base substitution G A intron_variant MELA-AU 7 95541545 95541545 single base substitution C T intron_variant MELA-AU 7 95541974 95541974 single base substitution C T intron_variant MELA-AU 7 95542794 95542794 single base substitution C T intron_variant MELA-AU 7 95543202 95543202 single base substitution G A intron_variant MELA-AU 7 95543278 95543278 single base substitution G A intron_variant MELA-AU 7 95543430 95543431 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 95543450 95543450 single base substitution C T intron_variant MELA-AU 7 95544063 95544063 single base substitution C T intron_variant MELA-AU 7 95544153 95544153 single base substitution C T intron_variant MELA-AU 7 95544629 95544629 single base substitution G A intron_variant MELA-AU 7 95545063 95545063 single base substitution G A intron_variant MELA-AU 7 95545079 95545079 single base substitution G A intron_variant MELA-AU 7 95545211 95545211 single base substitution G A intron_variant MELA-AU 7 95545317 95545317 single base substitution C T intron_variant MELA-AU 7 95545469 95545469 single base substitution G A intron_variant MELA-AU 7 95545567 95545567 single base substitution C T intron_variant MELA-AU 7 95545594 95545594 single base substitution C T intron_variant MELA-AU 7 95545719 95545719 single base substitution C T intron_variant MELA-AU 7 95546082 95546082 single base substitution A G intron_variant MELA-AU 7 95546235 95546235 single base substitution C T intron_variant MELA-AU 7 95546280 95546281 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95546420 95546420 single base substitution G A intron_variant MELA-AU 7 95546662 95546662 single base substitution C T intron_variant MELA-AU 7 95546687 95546687 single base substitution G A intron_variant MELA-AU 7 95546844 95546844 single base substitution A G intron_variant MELA-AU 7 95547057 95547057 single base substitution T G intron_variant MELA-AU 7 95547423 95547423 single base substitution G A intron_variant MELA-AU 7 95547543 95547543 single base substitution G A intron_variant MELA-AU 7 95548118 95548118 single base substitution C T intron_variant MELA-AU 7 95548205 95548205 single base substitution C T intron_variant MELA-AU 7 95548381 95548381 single base substitution C A intron_variant MELA-AU 7 95548452 95548452 single base substitution C T intron_variant MELA-AU 7 95548619 95548619 single base substitution G A intron_variant MELA-AU 7 95549650 95549650 single base substitution C T intron_variant MELA-AU 7 95549762 95549762 single base substitution C T intron_variant MELA-AU 7 95549890 95549890 single base substitution G A intron_variant MELA-AU 7 95549946 95549946 single base substitution G A intron_variant MELA-AU 7 95549983 95549983 single base substitution T C intron_variant MELA-AU 7 95550249 95550249 single base substitution G A intron_variant MELA-AU 7 95550417 95550417 single base substitution C T intron_variant MELA-AU 7 95550603 95550603 single base substitution C T intron_variant MELA-AU 7 95550831 95550831 single base substitution C T intron_variant MELA-AU 7 95551482 95551482 single base substitution C T intron_variant MELA-AU 7 95551812 95551812 single base substitution C T intron_variant MELA-AU 7 95551832 95551832 single base substitution C T intron_variant MELA-AU 7 95552143 95552143 single base substitution C T intron_variant MELA-AU 7 95552273 95552273 single base substitution G A intron_variant MELA-AU 7 95552574 95552574 single base substitution G A intron_variant MELA-AU 7 95552778 95552778 single base substitution C T intron_variant MELA-AU 7 95553083 95553083 single base substitution C T intron_variant MELA-AU 7 95553342 95553342 single base substitution C T intron_variant MELA-AU 7 95553429 95553429 single base substitution G A intron_variant MELA-AU 7 95553726 95553726 single base substitution T A intron_variant MELA-AU 7 95554282 95554282 single base substitution G A intron_variant MELA-AU 7 95554359 95554359 single base substitution T C intron_variant MELA-AU 7 95554435 95554435 single base substitution C T intron_variant MELA-AU 7 95554500 95554500 single base substitution G A intron_variant MELA-AU 7 95554587 95554587 single base substitution C T intron_variant MELA-AU 7 95555282 95555282 single base substitution C T intron_variant MELA-AU 7 95555717 95555717 single base substitution T C intron_variant MELA-AU 7 95555736 95555736 single base substitution C T intron_variant MELA-AU 7 95556294 95556294 single base substitution C T intron_variant MELA-AU 7 95556716 95556716 single base substitution G A intron_variant MELA-AU 7 95556939 95556939 single base substitution G A intron_variant MELA-AU 7 95557085 95557085 single base substitution C T intron_variant MELA-AU 7 95557409 95557409 single base substitution A T intron_variant MELA-AU 7 95557413 95557413 single base substitution G A intron_variant MELA-AU 7 95558083 95558084 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95558265 95558265 single base substitution C T intron_variant MELA-AU 7 95558354 95558354 single base substitution G A intron_variant MELA-AU 7 95558480 95558480 single base substitution C T intron_variant MELA-AU 7 95558481 95558481 single base substitution C T intron_variant MELA-AU 7 95558484 95558484 single base substitution C T intron_variant MELA-AU 7 95558538 95558538 single base substitution A C intron_variant MELA-AU 7 95558707 95558707 deletion of <=200bp T - intron_variant MELA-AU 7 95558712 95558712 single base substitution C G intron_variant MELA-AU 7 95558758 95558758 single base substitution A G intron_variant MELA-AU 7 95558930 95558930 single base substitution C T intron_variant MELA-AU 7 95559301 95559301 single base substitution G A intron_variant MELA-AU 7 95559302 95559302 single base substitution G A intron_variant MELA-AU 7 95559934 95559934 single base substitution C T intron_variant MELA-AU 7 95560311 95560311 single base substitution C T intron_variant MELA-AU 7 95560498 95560498 single base substitution C T intron_variant MELA-AU 7 95560815 95560815 single base substitution C T intron_variant MELA-AU 7 95561040 95561040 single base substitution G A intron_variant MELA-AU 7 95561262 95561262 single base substitution G A intron_variant MELA-AU 7 95561387 95561387 single base substitution G A intron_variant MELA-AU 7 95561583 95561583 single base substitution C T intron_variant MELA-AU 7 95562541 95562541 single base substitution G A intron_variant MELA-AU 7 95562669 95562669 single base substitution C T intron_variant MELA-AU 7 95563743 95563743 single base substitution C T intron_variant MELA-AU 7 95564231 95564231 single base substitution C T intron_variant MELA-AU 7 95564490 95564490 single base substitution C T intron_variant MELA-AU 7 95564566 95564566 single base substitution C T intron_variant MELA-AU 7 95564672 95564672 single base substitution T A intron_variant MELA-AU 7 95564872 95564872 single base substitution C T intron_variant MELA-AU 7 95564949 95564949 single base substitution G A intron_variant MELA-AU 7 95565085 95565085 single base substitution C T intron_variant MELA-AU 7 95565571 95565571 single base substitution G A intron_variant MELA-AU 7 95565757 95565757 single base substitution G A intron_variant MELA-AU 7 95567176 95567176 single base substitution C T intron_variant MELA-AU 7 95567348 95567348 single base substitution C T intron_variant MELA-AU 7 95567867 95567867 single base substitution C T intron_variant MELA-AU 7 95567924 95567924 single base substitution C T intron_variant MELA-AU 7 95568185 95568185 single base substitution C T intron_variant MELA-AU 7 95568401 95568401 single base substitution C T intron_variant MELA-AU 7 95568495 95568495 single base substitution C T intron_variant MELA-AU 7 95568653 95568653 single base substitution C T intron_variant MELA-AU 7 95568847 95568847 single base substitution C T intron_variant MELA-AU 7 95569897 95569897 single base substitution C T intron_variant MELA-AU 7 95570018 95570018 single base substitution C T intron_variant MELA-AU 7 95570126 95570126 single base substitution C T intron_variant MELA-AU 7 95570165 95570166 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95570225 95570225 single base substitution C T intron_variant MELA-AU 7 95570319 95570319 single base substitution C T intron_variant MELA-AU 7 95570333 95570333 single base substitution G A intron_variant MELA-AU 7 95571000 95571000 single base substitution T C intron_variant MELA-AU 7 95571035 95571035 single base substitution G A intron_variant MELA-AU 7 95571048 95571048 single base substitution C T intron_variant MELA-AU 7 95571349 95571349 single base substitution G A intron_variant MELA-AU 7 95571422 95571422 single base substitution T G intron_variant MELA-AU 7 95571490 95571490 single base substitution G A intron_variant MELA-AU 7 95571810 95571810 single base substitution G A intron_variant MELA-AU 7 95572711 95572711 single base substitution C T intron_variant MELA-AU 7 95574160 95574160 single base substitution G T intron_variant MELA-AU 7 95574342 95574342 single base substitution G A intron_variant MELA-AU 7 95574405 95574405 single base substitution C A intron_variant MELA-AU 7 95574798 95574798 single base substitution G A intron_variant MELA-AU 7 95574880 95574880 single base substitution C T intron_variant MELA-AU 7 95574951 95574951 single base substitution T C intron_variant MELA-AU 7 95575206 95575206 single base substitution G A intron_variant MELA-AU 7 95576042 95576042 single base substitution C T intron_variant MELA-AU 7 95576635 95576635 single base substitution C T intron_variant MELA-AU 7 95576917 95576918 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95577363 95577363 single base substitution G A intron_variant MELA-AU 7 95577447 95577447 single base substitution C T intron_variant MELA-AU 7 95577449 95577449 single base substitution C T intron_variant MELA-AU 7 95577496 95577496 single base substitution C T intron_variant MELA-AU 7 95577750 95577750 single base substitution G A intron_variant MELA-AU 7 95577885 95577885 single base substitution A G intron_variant MELA-AU 7 95577979 95577979 single base substitution G A intron_variant MELA-AU 7 95578140 95578140 single base substitution G A intron_variant MELA-AU 7 95578266 95578266 single base substitution C T intron_variant MELA-AU 7 95578469 95578469 single base substitution G A intron_variant MELA-AU 7 95578496 95578496 single base substitution G A intron_variant MELA-AU 7 95578756 95578756 single base substitution T G intron_variant MELA-AU 7 95579597 95579597 single base substitution C T intron_variant MELA-AU 7 95579628 95579628 single base substitution G C intron_variant MELA-AU 7 95580151 95580151 single base substitution A G intron_variant MELA-AU 7 95580270 95580270 single base substitution C T intron_variant MELA-AU 7 95580319 95580319 single base substitution G A intron_variant MELA-AU 7 95580395 95580395 single base substitution T G intron_variant MELA-AU 7 95580648 95580648 single base substitution G A intron_variant MELA-AU 7 95580832 95580832 single base substitution C T intron_variant MELA-AU 7 95580984 95580984 single base substitution A T intron_variant MELA-AU 7 95581460 95581460 single base substitution C T intron_variant MELA-AU 7 95581616 95581616 single base substitution C T intron_variant MELA-AU 7 95581933 95581933 single base substitution T C intron_variant MELA-AU 7 95581946 95581946 single base substitution C T intron_variant MELA-AU 7 95582508 95582508 single base substitution T C intron_variant MELA-AU 7 95582568 95582568 single base substitution C T intron_variant MELA-AU 7 95583001 95583001 single base substitution G A intron_variant MELA-AU 7 95583145 95583145 single base substitution C T intron_variant MELA-AU 7 95583326 95583326 single base substitution C T intron_variant MELA-AU 7 95583432 95583432 single base substitution G A intron_variant MELA-AU 7 95583492 95583492 single base substitution C T intron_variant MELA-AU 7 95583493 95583493 single base substitution C T intron_variant MELA-AU 7 95583896 95583896 single base substitution T A intron_variant MELA-AU 7 95583952 95583952 single base substitution C T intron_variant MELA-AU 7 95584030 95584030 single base substitution C G intron_variant MELA-AU 7 95584677 95584677 single base substitution C T intron_variant MELA-AU 7 95584679 95584679 single base substitution T A intron_variant MELA-AU 7 95584774 95584774 single base substitution C A intron_variant MELA-AU 7 95585172 95585172 single base substitution C T intron_variant MELA-AU 7 95585407 95585407 single base substitution C T intron_variant MELA-AU 7 95585487 95585487 single base substitution C T intron_variant MELA-AU 7 95585507 95585507 single base substitution G A intron_variant MELA-AU 7 95585634 95585634 single base substitution C T intron_variant MELA-AU 7 95585825 95585825 single base substitution C T intron_variant MELA-AU 7 95585841 95585841 single base substitution C T intron_variant MELA-AU 7 95586359 95586359 single base substitution A T intron_variant MELA-AU 7 95586496 95586496 single base substitution G A intron_variant MELA-AU 7 95586698 95586698 single base substitution C T intron_variant MELA-AU 7 95586820 95586820 single base substitution C T intron_variant MELA-AU 7 95586970 95586970 single base substitution G A intron_variant MELA-AU 7 95588082 95588082 single base substitution A T intron_variant MELA-AU 7 95588135 95588135 single base substitution C T intron_variant MELA-AU 7 95589172 95589172 single base substitution C T intron_variant MELA-AU 7 95589338 95589338 single base substitution T C intron_variant MELA-AU 7 95589848 95589848 single base substitution C T intron_variant MELA-AU 7 95590140 95590142 deletion of <=200bp AAA - intron_variant MELA-AU 7 95590481 95590481 single base substitution G A intron_variant MELA-AU 7 95591080 95591080 single base substitution C T intron_variant MELA-AU 7 95591184 95591184 single base substitution C T intron_variant MELA-AU 7 95591309 95591309 single base substitution G T intron_variant MELA-AU 7 95591582 95591582 single base substitution C T intron_variant MELA-AU 7 95593130 95593130 single base substitution T A intron_variant MELA-AU 7 95593162 95593162 single base substitution G A intron_variant MELA-AU 7 95593535 95593535 single base substitution A G intron_variant MELA-AU 7 95593723 95593723 single base substitution C A intron_variant MELA-AU 7 95594314 95594314 single base substitution G A intron_variant MELA-AU 7 95594352 95594352 single base substitution G A intron_variant MELA-AU 7 95594577 95594577 single base substitution C T intron_variant MELA-AU 7 95594626 95594626 single base substitution C T intron_variant MELA-AU 7 95594978 95594978 single base substitution A T intron_variant MELA-AU 7 95595357 95595357 single base substitution C T intron_variant MELA-AU 7 95595442 95595442 single base substitution G A intron_variant MELA-AU 7 95595460 95595460 single base substitution C T intron_variant MELA-AU 7 95595468 95595468 single base substitution A C intron_variant MELA-AU 7 95595765 95595766 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95595823 95595823 single base substitution C T intron_variant MELA-AU 7 95596147 95596147 single base substitution G T intron_variant MELA-AU 7 95596525 95596525 single base substitution A C intron_variant MELA-AU 7 95596580 95596580 single base substitution G A intron_variant MELA-AU 7 95596587 95596587 single base substitution C T intron_variant MELA-AU 7 95597054 95597054 single base substitution C T intron_variant MELA-AU 7 95597245 95597245 single base substitution G A intron_variant MELA-AU 7 95597527 95597527 single base substitution G A intron_variant MELA-AU 7 95597742 95597742 single base substitution C T intron_variant MELA-AU 7 95597913 95597913 single base substitution C T intron_variant MELA-AU 7 95598066 95598066 single base substitution A T intron_variant MELA-AU 7 95598088 95598088 single base substitution T A intron_variant MELA-AU 7 95598765 95598765 single base substitution G A intron_variant MELA-AU 7 95598866 95598866 single base substitution C T intron_variant MELA-AU 7 95599516 95599516 single base substitution C T intron_variant MELA-AU 7 95599741 95599741 single base substitution C T intron_variant MELA-AU 7 95600141 95600141 single base substitution G C intron_variant MELA-AU 7 95600161 95600161 single base substitution G A intron_variant MELA-AU 7 95600175 95600176 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 95600334 95600334 single base substitution G A intron_variant MELA-AU 7 95600335 95600335 single base substitution G A intron_variant MELA-AU 7 95600363 95600363 single base substitution C T intron_variant MELA-AU 7 95600919 95600919 single base substitution G A intron_variant MELA-AU 7 95600952 95600952 single base substitution C T intron_variant MELA-AU 7 95601110 95601110 single base substitution G A intron_variant MELA-AU 7 95601525 95601525 single base substitution G A intron_variant MELA-AU 7 95601573 95601573 single base substitution A C intron_variant MELA-AU 7 95601805 95601805 single base substitution C T intron_variant MELA-AU 7 95601889 95601889 single base substitution G A intron_variant MELA-AU 7 95602324 95602324 single base substitution C T intron_variant MELA-AU 7 95602751 95602751 single base substitution G A intron_variant MELA-AU 7 95602784 95602784 single base substitution C T intron_variant MELA-AU 7 95603227 95603227 single base substitution C T intron_variant MELA-AU 7 95603472 95603472 single base substitution C T intron_variant MELA-AU 7 95603682 95603682 single base substitution G A intron_variant MELA-AU 7 95603814 95603814 single base substitution G A intron_variant MELA-AU 7 95603876 95603876 single base substitution C T intron_variant MELA-AU 7 95604011 95604011 single base substitution G A intron_variant MELA-AU 7 95604121 95604121 single base substitution C T intron_variant MELA-AU 7 95604526 95604526 single base substitution G A intron_variant MELA-AU 7 95604650 95604650 single base substitution G A intron_variant MELA-AU 7 95604652 95604652 single base substitution C T intron_variant MELA-AU 7 95604666 95604666 single base substitution C T intron_variant MELA-AU 7 95604777 95604777 single base substitution C T intron_variant MELA-AU 7 95605362 95605362 single base substitution G A intron_variant MELA-AU 7 95605566 95605566 single base substitution G A intron_variant MELA-AU 7 95605994 95605994 single base substitution A G intron_variant MELA-AU 7 95606105 95606105 single base substitution G A intron_variant MELA-AU 7 95606140 95606140 single base substitution A T intron_variant MELA-AU 7 95606353 95606353 single base substitution G A intron_variant MELA-AU 7 95606384 95606384 single base substitution C T intron_variant MELA-AU 7 95606454 95606454 single base substitution C T intron_variant MELA-AU 7 95606571 95606571 single base substitution G C intron_variant MELA-AU 7 95606923 95606924 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 95607090 95607090 single base substitution G A intron_variant MELA-AU 7 95608071 95608071 single base substitution C G intron_variant MELA-AU 7 95608093 95608093 single base substitution C T intron_variant MELA-AU 7 95608587 95608587 single base substitution C T intron_variant MELA-AU 7 95608612 95608612 single base substitution C T intron_variant MELA-AU 7 95608701 95608701 single base substitution G A intron_variant MELA-AU 7 95608921 95608921 single base substitution G A intron_variant MELA-AU 7 95608950 95608950 single base substitution C T intron_variant MELA-AU 7 95609116 95609116 single base substitution C T intron_variant MELA-AU 7 95609173 95609173 single base substitution A C intron_variant MELA-AU 7 95609340 95609341 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 95609434 95609434 single base substitution C T intron_variant MELA-AU 7 95610035 95610035 single base substitution G A intron_variant MELA-AU 7 95610268 95610268 single base substitution C T intron_variant MELA-AU 7 95610287 95610287 single base substitution T C intron_variant MELA-AU 7 95610731 95610731 single base substitution T C intron_variant MELA-AU 7 95611321 95611321 single base substitution C T intron_variant MELA-AU 7 95611961 95611961 single base substitution C T intron_variant MELA-AU 7 95612296 95612296 single base substitution T C intron_variant MELA-AU 7 95612461 95612461 single base substitution C T intron_variant MELA-AU 7 95612871 95612871 single base substitution C T intron_variant MELA-AU 7 95613044 95613044 single base substitution G A intron_variant MELA-AU 7 95613525 95613525 single base substitution C T intron_variant MELA-AU 7 95613649 95613649 single base substitution G A intron_variant MELA-AU 7 95614089 95614089 single base substitution C T intron_variant MELA-AU 7 95614234 95614234 single base substitution G A exon_variant MELA-AU 7 95614234 95614234 single base substitution G A missense_variant E210K 628G>A MELA-AU 7 95614234 95614234 single base substitution G A missense_variant E227K 679G>A MELA-AU 7 95614234 95614234 single base substitution G A missense_variant E230K 688G>A MELA-AU 7 95614234 95614234 single base substitution G A missense_variant E247K 739G>A MELA-AU 7 95614604 95614604 single base substitution T C intron_variant MELA-AU 7 95614906 95614906 single base substitution C T intron_variant MELA-AU 7 95615290 95615290 single base substitution C T intron_variant MELA-AU 7 95615554 95615555 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 95615799 95615799 single base substitution G A intron_variant MELA-AU 7 95616116 95616116 single base substitution G A intron_variant MELA-AU 7 95616887 95616887 single base substitution G A intron_variant MELA-AU 7 95616910 95616910 single base substitution C T intron_variant MELA-AU 7 95617122 95617122 single base substitution C T intron_variant MELA-AU 7 95617186 95617186 single base substitution C T intron_variant MELA-AU 7 95617340 95617340 single base substitution C T intron_variant MELA-AU 7 95617437 95617437 single base substitution C T intron_variant MELA-AU 7 95617707 95617707 single base substitution C T intron_variant MELA-AU 7 95617720 95617720 single base substitution C T intron_variant MELA-AU 7 95618525 95618525 single base substitution A T intron_variant MELA-AU 7 95618528 95618528 single base substitution C T intron_variant MELA-AU 7 95618953 95618953 single base substitution G A intron_variant MELA-AU 7 95619080 95619080 single base substitution C G intron_variant MELA-AU 7 95619134 95619134 single base substitution G A intron_variant MELA-AU 7 95619482 95619482 single base substitution G A intron_variant MELA-AU 7 95619682 95619682 single base substitution G A intron_variant MELA-AU 7 95619898 95619899 multiple base substitution (>=2bp and <=200bp) TT AC intron_variant MELA-AU 7 95620495 95620496 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95620564 95620564 single base substitution C T intron_variant MELA-AU 7 95620708 95620708 single base substitution G A intron_variant MELA-AU 7 95621667 95621667 single base substitution G A intron_variant MELA-AU 7 95622013 95622014 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95622142 95622142 single base substitution G A intron_variant MELA-AU 7 95622290 95622290 single base substitution C T intron_variant MELA-AU 7 95623541 95623546 deletion of <=200bp AAGTTT - intron_variant MELA-AU 7 95623734 95623734 single base substitution T C intron_variant MELA-AU 7 95623954 95623954 single base substitution G A intron_variant MELA-AU 7 95624096 95624096 single base substitution G A intron_variant MELA-AU 7 95624788 95624788 single base substitution G A intron_variant MELA-AU 7 95625018 95625018 single base substitution G A intron_variant MELA-AU 7 95625102 95625102 single base substitution T G intron_variant MELA-AU 7 95625176 95625176 single base substitution T C intron_variant MELA-AU 7 95625328 95625328 single base substitution C T exon_variant MELA-AU 7 95625328 95625328 single base substitution C T synonymous_variant A284A 852C>T MELA-AU 7 95625328 95625328 single base substitution C T synonymous_variant A301A 903C>T MELA-AU 7 95625328 95625328 single base substitution C T synonymous_variant A304A 912C>T MELA-AU 7 95625328 95625328 single base substitution C T synonymous_variant A321A 963C>T MELA-AU 7 95625720 95625720 single base substitution G A intron_variant MELA-AU 7 95625863 95625863 single base substitution C T intron_variant MELA-AU 7 95627310 95627310 single base substitution G A intron_variant MELA-AU 7 95627413 95627413 single base substitution C T intron_variant MELA-AU 7 95627694 95627694 single base substitution G A intron_variant MELA-AU 7 95627727 95627727 single base substitution T C intron_variant MELA-AU 7 95627897 95627897 single base substitution C T intron_variant MELA-AU 7 95628053 95628053 single base substitution C T intron_variant MELA-AU 7 95628084 95628084 single base substitution T A intron_variant MELA-AU 7 95628898 95628898 single base substitution G A intron_variant MELA-AU 7 95628934 95628934 single base substitution C T intron_variant MELA-AU 7 95628957 95628957 single base substitution C T intron_variant MELA-AU 7 95628981 95628981 single base substitution G A intron_variant MELA-AU 7 95629455 95629455 single base substitution G A intron_variant MELA-AU 7 95629500 95629500 single base substitution C A intron_variant MELA-AU 7 95629685 95629685 single base substitution A T intron_variant MELA-AU 7 95630140 95630140 single base substitution G A intron_variant MELA-AU 7 95630245 95630245 single base substitution G A intron_variant MELA-AU 7 95630479 95630479 single base substitution C T intron_variant MELA-AU 7 95630589 95630589 single base substitution C T intron_variant MELA-AU 7 95631066 95631066 single base substitution C T intron_variant MELA-AU 7 95631207 95631207 single base substitution C T intron_variant MELA-AU 7 95631439 95631439 single base substitution G A intron_variant MELA-AU 7 95631701 95631701 single base substitution G A intron_variant MELA-AU 7 95631865 95631865 single base substitution C T intron_variant MELA-AU 7 95632016 95632016 single base substitution T C intron_variant MELA-AU 7 95632219 95632219 single base substitution G A intron_variant MELA-AU 7 95632380 95632380 single base substitution C T intron_variant MELA-AU 7 95632559 95632559 single base substitution C T intron_variant MELA-AU 7 95632593 95632593 single base substitution C T intron_variant MELA-AU 7 95632614 95632614 single base substitution C T intron_variant MELA-AU 7 95632785 95632785 single base substitution C T intron_variant MELA-AU 7 95632990 95632990 single base substitution C T intron_variant MELA-AU 7 95632993 95632993 single base substitution G A intron_variant MELA-AU 7 95633051 95633051 single base substitution C T intron_variant MELA-AU 7 95633081 95633081 single base substitution C T intron_variant MELA-AU 7 95633082 95633083 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95633294 95633294 single base substitution G A intron_variant MELA-AU 7 95633406 95633406 single base substitution T C intron_variant MELA-AU 7 95633466 95633466 single base substitution A G intron_variant MELA-AU 7 95633601 95633601 single base substitution C T intron_variant MELA-AU 7 95633673 95633673 single base substitution C T intron_variant MELA-AU 7 95634701 95634701 single base substitution C G intron_variant MELA-AU 7 95634802 95634802 single base substitution G A intron_variant MELA-AU 7 95635080 95635080 single base substitution G A intron_variant MELA-AU 7 95635087 95635087 single base substitution C T intron_variant MELA-AU 7 95635097 95635097 single base substitution A T intron_variant MELA-AU 7 95635644 95635644 single base substitution C T intron_variant MELA-AU 7 95635697 95635697 single base substitution C T intron_variant MELA-AU 7 95635701 95635701 single base substitution C T intron_variant MELA-AU 7 95635816 95635816 single base substitution C T intron_variant MELA-AU 7 95636046 95636046 single base substitution C T intron_variant MELA-AU 7 95636233 95636233 single base substitution C T intron_variant MELA-AU 7 95636400 95636400 single base substitution C T intron_variant MELA-AU 7 95636446 95636446 single base substitution A T intron_variant MELA-AU 7 95636681 95636681 single base substitution G A intron_variant MELA-AU 7 95636721 95636721 single base substitution C T intron_variant MELA-AU 7 95636764 95636764 single base substitution A C intron_variant MELA-AU 7 95637235 95637235 single base substitution C T intron_variant MELA-AU 7 95637278 95637278 single base substitution G A intron_variant MELA-AU 7 95637313 95637313 single base substitution C T intron_variant MELA-AU 7 95637368 95637368 single base substitution G A intron_variant MELA-AU 7 95637382 95637382 single base substitution C T intron_variant MELA-AU 7 95637672 95637672 single base substitution G A intron_variant MELA-AU 7 95637737 95637737 single base substitution C T intron_variant MELA-AU 7 95637889 95637889 single base substitution C T intron_variant MELA-AU 7 95637963 95637963 single base substitution C T intron_variant MELA-AU 7 95638354 95638354 single base substitution C T intron_variant MELA-AU 7 95638462 95638462 single base substitution C T intron_variant MELA-AU 7 95638614 95638614 single base substitution C T intron_variant MELA-AU 7 95638710 95638710 single base substitution C T intron_variant MELA-AU 7 95638765 95638765 single base substitution G A intron_variant MELA-AU 7 95639054 95639054 single base substitution A T intron_variant MELA-AU 7 95639290 95639290 single base substitution C T intron_variant MELA-AU 7 95639318 95639318 single base substitution C A intron_variant MELA-AU 7 95639338 95639338 single base substitution G C intron_variant MELA-AU 7 95639440 95639440 single base substitution T C intron_variant MELA-AU 7 95639918 95639918 single base substitution G A intron_variant MELA-AU 7 95640153 95640153 single base substitution G A intron_variant MELA-AU 7 95640657 95640657 single base substitution G A intron_variant MELA-AU 7 95640723 95640723 single base substitution C T intron_variant MELA-AU 7 95640826 95640826 single base substitution G A intron_variant MELA-AU 7 95641001 95641001 single base substitution C T intron_variant MELA-AU 7 95641076 95641076 single base substitution A T intron_variant MELA-AU 7 95641267 95641267 single base substitution C T intron_variant MELA-AU 7 95641703 95641703 single base substitution G A intron_variant MELA-AU 7 95642036 95642036 single base substitution C T intron_variant MELA-AU 7 95642200 95642200 single base substitution T A intron_variant MELA-AU 7 95642219 95642219 single base substitution C T intron_variant MELA-AU 7 95642220 95642220 single base substitution C T intron_variant MELA-AU 7 95642383 95642383 single base substitution G A intron_variant MELA-AU 7 95642521 95642521 single base substitution T A intron_variant MELA-AU 7 95642547 95642547 single base substitution A G intron_variant MELA-AU 7 95642636 95642636 single base substitution C T intron_variant MELA-AU 7 95643116 95643116 single base substitution G A intron_variant MELA-AU 7 95643154 95643154 single base substitution C T intron_variant MELA-AU 7 95643187 95643187 single base substitution C T intron_variant MELA-AU 7 95643209 95643209 single base substitution A T intron_variant MELA-AU 7 95643365 95643365 single base substitution G A intron_variant MELA-AU 7 95643644 95643644 single base substitution C T intron_variant MELA-AU 7 95643775 95643775 single base substitution A G intron_variant MELA-AU 7 95644053 95644053 single base substitution G A intron_variant MELA-AU 7 95644204 95644204 single base substitution G A intron_variant MELA-AU 7 95644442 95644442 single base substitution C T intron_variant MELA-AU 7 95644548 95644548 single base substitution C T intron_variant MELA-AU 7 95644765 95644765 single base substitution G A intron_variant MELA-AU 7 95645421 95645421 single base substitution T C intron_variant MELA-AU 7 95645578 95645578 single base substitution C T intron_variant MELA-AU 7 95645589 95645589 single base substitution T A intron_variant MELA-AU 7 95645618 95645618 single base substitution T G intron_variant MELA-AU 7 95646600 95646600 single base substitution C T intron_variant MELA-AU 7 95646673 95646673 single base substitution C T intron_variant MELA-AU 7 95646827 95646827 single base substitution C T intron_variant MELA-AU 7 95646981 95646982 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 7 95647801 95647801 single base substitution T C intron_variant MELA-AU 7 95647985 95647985 single base substitution C T intron_variant MELA-AU 7 95648092 95648092 single base substitution C T intron_variant MELA-AU 7 95648236 95648236 single base substitution C T intron_variant MELA-AU 7 95648593 95648593 single base substitution C T intron_variant MELA-AU 7 95649101 95649101 single base substitution A C intron_variant MELA-AU 7 95649284 95649284 single base substitution G A intron_variant MELA-AU 7 95649726 95649726 single base substitution C T intron_variant MELA-AU 7 95649957 95649957 single base substitution C T intron_variant MELA-AU 7 95650107 95650107 single base substitution G A intron_variant MELA-AU 7 95650131 95650131 single base substitution G A intron_variant MELA-AU 7 95650237 95650237 single base substitution G A intron_variant MELA-AU 7 95650311 95650311 single base substitution G A intron_variant MELA-AU 7 95650571 95650571 single base substitution G A intron_variant MELA-AU 7 95650705 95650705 single base substitution G A intron_variant MELA-AU 7 95651834 95651834 single base substitution C T intron_variant MELA-AU 7 95652416 95652416 single base substitution G A intron_variant MELA-AU 7 95652857 95652857 single base substitution G A intron_variant MELA-AU 7 95653439 95653439 single base substitution G A intron_variant MELA-AU 7 95653657 95653657 single base substitution C T intron_variant MELA-AU 7 95654423 95654423 single base substitution C T intron_variant MELA-AU 7 95654572 95654572 single base substitution G A intron_variant MELA-AU 7 95654958 95654958 single base substitution C T intron_variant MELA-AU 7 95655212 95655212 single base substitution C T intron_variant MELA-AU 7 95655247 95655247 single base substitution C T intron_variant MELA-AU 7 95655724 95655724 single base substitution G A intron_variant MELA-AU 7 95655743 95655743 single base substitution T G intron_variant MELA-AU 7 95655929 95655930 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95656390 95656390 single base substitution C T intron_variant MELA-AU 7 95656513 95656513 single base substitution C T intron_variant MELA-AU 7 95656636 95656636 single base substitution G A intron_variant MELA-AU 7 95656960 95656960 single base substitution G A intron_variant MELA-AU 7 95656990 95656990 single base substitution G A intron_variant MELA-AU 7 95656990 95656990 single base substitution G A upstream_gene_variant MELA-AU 7 95657581 95657581 single base substitution G A exon_variant MELA-AU 7 95657581 95657581 single base substitution G A missense_variant S335N 1004G>A MELA-AU 7 95657581 95657581 single base substitution G A missense_variant S352N 1055G>A MELA-AU 7 95657581 95657581 single base substitution G A missense_variant S355N 1064G>A MELA-AU 7 95657581 95657581 single base substitution G A missense_variant S372N 1115G>A MELA-AU 7 95657581 95657581 single base substitution G A upstream_gene_variant MELA-AU 7 95657718 95657718 single base substitution C T downstream_gene_variant MELA-AU 7 95657718 95657718 single base substitution C T intron_variant MELA-AU 7 95657718 95657718 single base substitution C T upstream_gene_variant MELA-AU 7 95657925 95657925 single base substitution C T downstream_gene_variant MELA-AU 7 95657925 95657925 single base substitution C T intron_variant MELA-AU 7 95657925 95657925 single base substitution C T upstream_gene_variant MELA-AU 7 95657926 95657926 single base substitution C T downstream_gene_variant MELA-AU 7 95657926 95657926 single base substitution C T intron_variant MELA-AU 7 95657926 95657926 single base substitution C T upstream_gene_variant MELA-AU 7 95658227 95658227 single base substitution C T downstream_gene_variant MELA-AU 7 95658227 95658227 single base substitution C T intron_variant MELA-AU 7 95658227 95658227 single base substitution C T upstream_gene_variant MELA-AU 7 95658731 95658731 single base substitution G A downstream_gene_variant MELA-AU 7 95658731 95658731 single base substitution G A intron_variant MELA-AU 7 95658731 95658731 single base substitution G A upstream_gene_variant MELA-AU 7 95658780 95658780 single base substitution C T downstream_gene_variant MELA-AU 7 95658780 95658780 single base substitution C T intron_variant MELA-AU 7 95658780 95658780 single base substitution C T upstream_gene_variant MELA-AU 7 95659242 95659242 single base substitution A T downstream_gene_variant MELA-AU 7 95659242 95659242 single base substitution A T intron_variant MELA-AU 7 95659242 95659242 single base substitution A T upstream_gene_variant MELA-AU 7 95659606 95659606 single base substitution G A downstream_gene_variant MELA-AU 7 95659606 95659606 single base substitution G A intron_variant MELA-AU 7 95659606 95659606 single base substitution G A upstream_gene_variant MELA-AU 7 95659625 95659626 multiple base substitution (>=2bp and <=200bp) CT TC downstream_gene_variant MELA-AU 7 95659625 95659626 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 7 95659625 95659626 multiple base substitution (>=2bp and <=200bp) CT TC upstream_gene_variant MELA-AU 7 95660460 95660460 single base substitution C T downstream_gene_variant MELA-AU 7 95660460 95660460 single base substitution C T intron_variant MELA-AU 7 95660460 95660460 single base substitution C T upstream_gene_variant MELA-AU 7 95660764 95660764 single base substitution C T downstream_gene_variant MELA-AU 7 95660764 95660764 single base substitution C T intron_variant MELA-AU 7 95660764 95660764 single base substitution C T upstream_gene_variant MELA-AU 7 95660803 95660803 single base substitution C T downstream_gene_variant MELA-AU 7 95660803 95660803 single base substitution C T intron_variant MELA-AU 7 95660803 95660803 single base substitution C T upstream_gene_variant MELA-AU 7 95661376 95661376 single base substitution C T downstream_gene_variant MELA-AU 7 95661376 95661376 single base substitution C T intron_variant MELA-AU 7 95661376 95661376 single base substitution C T upstream_gene_variant MELA-AU 7 95662108 95662108 single base substitution C T downstream_gene_variant MELA-AU 7 95662108 95662108 single base substitution C T intron_variant MELA-AU 7 95662243 95662244 multiple base substitution (>=2bp and <=200bp) CT TA downstream_gene_variant MELA-AU 7 95662243 95662244 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 7 95662364 95662364 single base substitution G C downstream_gene_variant MELA-AU 7 95662364 95662364 single base substitution G C intron_variant MELA-AU 7 95662447 95662447 single base substitution C T downstream_gene_variant MELA-AU 7 95662447 95662447 single base substitution C T intron_variant MELA-AU 7 95662469 95662469 single base substitution G A downstream_gene_variant MELA-AU 7 95662469 95662469 single base substitution G A intron_variant MELA-AU 7 95662685 95662685 single base substitution G A intron_variant MELA-AU 7 95662771 95662771 single base substitution G A intron_variant MELA-AU 7 95662806 95662806 single base substitution C T intron_variant MELA-AU 7 95663181 95663181 single base substitution G A intron_variant MELA-AU 7 95663430 95663430 single base substitution G A intron_variant MELA-AU 7 95663733 95663733 single base substitution C T intron_variant MELA-AU 7 95663793 95663793 single base substitution C T intron_variant MELA-AU 7 95664089 95664089 single base substitution C T intron_variant MELA-AU 7 95664163 95664163 single base substitution G A intron_variant MELA-AU 7 95664254 95664254 single base substitution C T intron_variant MELA-AU 7 95664288 95664288 single base substitution C T intron_variant MELA-AU 7 95664362 95664362 single base substitution T C intron_variant MELA-AU 7 95664446 95664446 single base substitution G A intron_variant MELA-AU 7 95664480 95664480 single base substitution C T intron_variant MELA-AU 7 95664578 95664578 single base substitution G A intron_variant MELA-AU 7 95664600 95664600 single base substitution G A intron_variant MELA-AU 7 95664990 95664990 single base substitution C T exon_variant MELA-AU 7 95664990 95664990 single base substitution C T synonymous_variant F410F 1230C>T MELA-AU 7 95664990 95664990 single base substitution C T synonymous_variant F427F 1281C>T MELA-AU 7 95664990 95664990 single base substitution C T synonymous_variant F430F 1290C>T MELA-AU 7 95664990 95664990 single base substitution C T synonymous_variant F447F 1341C>T MELA-AU 7 95665014 95665014 single base substitution C T exon_variant MELA-AU 7 95665014 95665014 single base substitution C T synonymous_variant F418F 1254C>T MELA-AU 7 95665014 95665014 single base substitution C T synonymous_variant F435F 1305C>T MELA-AU 7 95665014 95665014 single base substitution C T synonymous_variant F438F 1314C>T MELA-AU 7 95665014 95665014 single base substitution C T synonymous_variant F455F 1365C>T MELA-AU 7 95665475 95665475 single base substitution C T intron_variant MELA-AU 7 95665815 95665815 single base substitution T C intron_variant MELA-AU 7 95665842 95665842 single base substitution C T intron_variant MELA-AU 7 95665899 95665899 single base substitution C T intron_variant MELA-AU 7 95665961 95665961 single base substitution G A intron_variant MELA-AU 7 95665993 95665993 single base substitution C T intron_variant MELA-AU 7 95666017 95666017 single base substitution G A intron_variant MELA-AU 7 95666097 95666097 single base substitution C T intron_variant MELA-AU 7 95666221 95666221 single base substitution G A intron_variant MELA-AU 7 95666378 95666378 single base substitution T A intron_variant MELA-AU 7 95666742 95666742 single base substitution A G intron_variant MELA-AU 7 95667004 95667004 single base substitution C T intron_variant MELA-AU 7 95667126 95667126 single base substitution C T intron_variant MELA-AU 7 95667127 95667127 single base substitution C T intron_variant MELA-AU 7 95667202 95667202 single base substitution G A intron_variant MELA-AU 7 95667276 95667276 single base substitution C T intron_variant MELA-AU 7 95667316 95667316 single base substitution C T intron_variant MELA-AU 7 95667435 95667435 single base substitution C T intron_variant MELA-AU 7 95667964 95667964 single base substitution G A intron_variant MELA-AU 7 95668352 95668352 single base substitution C T intron_variant MELA-AU 7 95668398 95668398 single base substitution G A intron_variant MELA-AU 7 95668434 95668434 single base substitution C T intron_variant MELA-AU 7 95668783 95668783 single base substitution T G intron_variant MELA-AU 7 95668799 95668799 single base substitution G A intron_variant MELA-AU 7 95669144 95669144 single base substitution G A intron_variant MELA-AU 7 95669262 95669262 single base substitution C T intron_variant MELA-AU 7 95669593 95669593 single base substitution A C intron_variant MELA-AU 7 95669601 95669601 single base substitution C T intron_variant MELA-AU 7 95669722 95669722 single base substitution A T intron_variant MELA-AU 7 95669948 95669948 single base substitution T A intron_variant MELA-AU 7 95670048 95670048 single base substitution T A intron_variant MELA-AU 7 95670049 95670049 single base substitution T C intron_variant MELA-AU 7 95670151 95670151 single base substitution A C intron_variant MELA-AU 7 95670717 95670717 single base substitution G A intron_variant MELA-AU 7 95671234 95671234 single base substitution A T intron_variant MELA-AU 7 95672110 95672110 single base substitution G A intron_variant MELA-AU 7 95672181 95672185 deletion of <=200bp AATAA - intron_variant MELA-AU 7 95672278 95672278 single base substitution C T intron_variant MELA-AU 7 95672279 95672279 single base substitution C T intron_variant MELA-AU 7 95672439 95672439 single base substitution C T intron_variant MELA-AU 7 95672607 95672607 single base substitution C T intron_variant MELA-AU 7 95672775 95672775 single base substitution G A intron_variant MELA-AU 7 95673053 95673053 single base substitution C T intron_variant MELA-AU 7 95673104 95673104 single base substitution C T intron_variant MELA-AU 7 95673255 95673255 single base substitution C T intron_variant MELA-AU 7 95673398 95673398 single base substitution A G intron_variant MELA-AU 7 95673976 95673976 single base substitution G A intron_variant MELA-AU 7 95674034 95674035 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 7 95674257 95674257 single base substitution G A intron_variant MELA-AU 7 95674270 95674270 single base substitution A G intron_variant MELA-AU 7 95674341 95674341 single base substitution A G intron_variant MELA-AU 7 95674582 95674582 single base substitution C T intron_variant MELA-AU 7 95674746 95674746 single base substitution G A intron_variant MELA-AU 7 95674966 95674966 single base substitution T C intron_variant MELA-AU 7 95675233 95675233 single base substitution G A intron_variant MELA-AU 7 95675254 95675254 single base substitution C T intron_variant MELA-AU 7 95675490 95675490 single base substitution C T intron_variant MELA-AU 7 95675691 95675691 single base substitution C T intron_variant MELA-AU 7 95676269 95676269 single base substitution G A intron_variant MELA-AU 7 95676407 95676407 single base substitution G A intron_variant MELA-AU 7 95676455 95676455 single base substitution C T intron_variant MELA-AU 7 95676532 95676532 single base substitution C T intron_variant MELA-AU 7 95676569 95676569 single base substitution C T intron_variant MELA-AU 7 95676592 95676592 single base substitution A C intron_variant MELA-AU 7 95677115 95677115 single base substitution G A intron_variant MELA-AU 7 95677124 95677124 single base substitution G A intron_variant MELA-AU 7 95677230 95677230 single base substitution C T intron_variant MELA-AU 7 95677270 95677270 single base substitution G A intron_variant MELA-AU 7 95677679 95677680 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95677703 95677703 single base substitution C T intron_variant MELA-AU 7 95677830 95677831 deletion of <=200bp TG - intron_variant MELA-AU 7 95677946 95677946 single base substitution C T intron_variant MELA-AU 7 95678786 95678786 single base substitution T G intron_variant MELA-AU 7 95678943 95678943 single base substitution G A intron_variant MELA-AU 7 95679268 95679268 single base substitution C T intron_variant MELA-AU 7 95679274 95679274 single base substitution G A intron_variant MELA-AU 7 95680068 95680068 single base substitution C A intron_variant MELA-AU 7 95680118 95680118 single base substitution C T intron_variant MELA-AU 7 95680660 95680661 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95680798 95680798 single base substitution C T intron_variant MELA-AU 7 95681102 95681102 single base substitution C T intron_variant MELA-AU 7 95681173 95681173 single base substitution G A intron_variant MELA-AU 7 95681325 95681325 single base substitution C T intron_variant MELA-AU 7 95681385 95681385 single base substitution C T intron_variant MELA-AU 7 95681832 95681832 single base substitution C T intron_variant MELA-AU 7 95682100 95682100 single base substitution C T intron_variant MELA-AU 7 95682335 95682335 single base substitution G A intron_variant MELA-AU 7 95682351 95682351 single base substitution C T intron_variant MELA-AU 7 95682766 95682766 single base substitution T G intron_variant MELA-AU 7 95682834 95682834 single base substitution C T intron_variant MELA-AU 7 95682857 95682857 single base substitution T C intron_variant MELA-AU 7 95682901 95682901 single base substitution G A intron_variant MELA-AU 7 95683581 95683581 single base substitution G A intron_variant MELA-AU 7 95683591 95683591 single base substitution T A intron_variant MELA-AU 7 95683610 95683610 single base substitution C T intron_variant MELA-AU 7 95683633 95683633 single base substitution C T intron_variant MELA-AU 7 95683696 95683696 single base substitution C T intron_variant MELA-AU 7 95684252 95684252 single base substitution C T intron_variant MELA-AU 7 95684654 95684654 single base substitution G A intron_variant MELA-AU 7 95684727 95684727 single base substitution G A intron_variant MELA-AU 7 95684761 95684761 single base substitution C T intron_variant MELA-AU 7 95684777 95684777 single base substitution A T intron_variant MELA-AU 7 95685172 95685172 single base substitution G A exon_variant MELA-AU 7 95685172 95685172 single base substitution G A intron_variant MELA-AU 7 95685173 95685173 single base substitution G A exon_variant MELA-AU 7 95685173 95685173 single base substitution G A intron_variant MELA-AU 7 95685315 95685315 single base substitution G A exon_variant MELA-AU 7 95685315 95685315 single base substitution G A intron_variant MELA-AU 7 95685345 95685345 single base substitution C T exon_variant MELA-AU 7 95685345 95685345 single base substitution C T intron_variant MELA-AU 7 95685483 95685483 single base substitution C T downstream_gene_variant MELA-AU 7 95685483 95685483 single base substitution C T intron_variant MELA-AU 7 95686321 95686321 single base substitution C T downstream_gene_variant MELA-AU 7 95686321 95686321 single base substitution C T intron_variant MELA-AU 7 95686598 95686598 single base substitution G A downstream_gene_variant MELA-AU 7 95686598 95686598 single base substitution G A intron_variant MELA-AU 7 95686764 95686764 single base substitution A G downstream_gene_variant MELA-AU 7 95686764 95686764 single base substitution A G intron_variant MELA-AU 7 95686790 95686790 single base substitution T G downstream_gene_variant MELA-AU 7 95686790 95686790 single base substitution T G intron_variant MELA-AU 7 95687051 95687051 single base substitution C T downstream_gene_variant MELA-AU 7 95687051 95687051 single base substitution C T intron_variant MELA-AU 7 95687634 95687635 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 95687634 95687635 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 95687872 95687872 single base substitution G A downstream_gene_variant MELA-AU 7 95687872 95687872 single base substitution G A intron_variant MELA-AU 7 95688037 95688037 single base substitution C T downstream_gene_variant MELA-AU 7 95688037 95688037 single base substitution C T intron_variant MELA-AU 7 95688625 95688625 single base substitution G A downstream_gene_variant MELA-AU 7 95688625 95688625 single base substitution G A intron_variant MELA-AU 7 95688654 95688654 single base substitution C T downstream_gene_variant MELA-AU 7 95688654 95688654 single base substitution C T intron_variant MELA-AU 7 95688907 95688907 single base substitution G A downstream_gene_variant MELA-AU 7 95688907 95688907 single base substitution G A intron_variant MELA-AU 7 95689026 95689026 single base substitution G A downstream_gene_variant MELA-AU 7 95689026 95689026 single base substitution G A intron_variant MELA-AU 7 95689551 95689551 single base substitution C T downstream_gene_variant MELA-AU 7 95689551 95689551 single base substitution C T intron_variant MELA-AU 7 95689590 95689590 single base substitution C T downstream_gene_variant MELA-AU 7 95689590 95689590 single base substitution C T intron_variant MELA-AU 7 95689689 95689689 single base substitution C T downstream_gene_variant MELA-AU 7 95689689 95689689 single base substitution C T intron_variant MELA-AU 7 95689731 95689731 single base substitution C T downstream_gene_variant MELA-AU 7 95689731 95689731 single base substitution C T intron_variant MELA-AU 7 95689739 95689739 single base substitution G A downstream_gene_variant MELA-AU 7 95689739 95689739 single base substitution G A intron_variant MELA-AU 7 95689772 95689772 single base substitution G A downstream_gene_variant MELA-AU 7 95689772 95689772 single base substitution G A intron_variant MELA-AU 7 95689876 95689876 single base substitution G A downstream_gene_variant MELA-AU 7 95689876 95689876 single base substitution G A intron_variant MELA-AU 7 95690227 95690228 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 95690227 95690228 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95690249 95690249 single base substitution G A downstream_gene_variant MELA-AU 7 95690249 95690249 single base substitution G A intron_variant MELA-AU 7 95690361 95690361 single base substitution C T downstream_gene_variant MELA-AU 7 95690361 95690361 single base substitution C T intron_variant MELA-AU 7 95690367 95690367 single base substitution C T downstream_gene_variant MELA-AU 7 95690367 95690367 single base substitution C T intron_variant MELA-AU 7 95690489 95690489 single base substitution G A intron_variant MELA-AU 7 95690531 95690531 single base substitution C A intron_variant MELA-AU 7 95690906 95690906 single base substitution C T intron_variant MELA-AU 7 95691169 95691169 single base substitution C T intron_variant MELA-AU 7 95691556 95691556 single base substitution G A intron_variant MELA-AU 7 95691932 95691932 single base substitution C T intron_variant MELA-AU 7 95692413 95692413 single base substitution A G intron_variant MELA-AU 7 95692537 95692537 single base substitution G A intron_variant MELA-AU 7 95692706 95692707 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 7 95693263 95693263 single base substitution G A intron_variant MELA-AU 7 95693395 95693395 single base substitution G A intron_variant MELA-AU 7 95693576 95693576 single base substitution C T intron_variant MELA-AU 7 95693762 95693762 single base substitution G A intron_variant MELA-AU 7 95694019 95694019 single base substitution C G intron_variant MELA-AU 7 95694078 95694078 single base substitution G A intron_variant MELA-AU 7 95694176 95694176 single base substitution A G intron_variant MELA-AU 7 95694218 95694218 single base substitution G A intron_variant MELA-AU 7 95694387 95694387 single base substitution C T intron_variant MELA-AU 7 95694452 95694452 single base substitution C T intron_variant MELA-AU 7 95694820 95694820 single base substitution G A intron_variant MELA-AU 7 95694995 95694995 single base substitution G A intron_variant MELA-AU 7 95695008 95695008 single base substitution C T intron_variant MELA-AU 7 95695696 95695696 single base substitution C T intron_variant MELA-AU 7 95695803 95695803 single base substitution C T intron_variant MELA-AU 7 95695854 95695854 single base substitution C T intron_variant MELA-AU 7 95695928 95695928 single base substitution G A intron_variant MELA-AU 7 95696080 95696080 single base substitution C T intron_variant MELA-AU 7 95696116 95696116 single base substitution A G intron_variant MELA-AU 7 95696339 95696339 single base substitution G A intron_variant MELA-AU 7 95696511 95696527 deletion of <=200bp TTAACAAAATCAATAGT - intron_variant MELA-AU 7 95696677 95696677 single base substitution C T intron_variant MELA-AU 7 95697147 95697147 single base substitution C T intron_variant MELA-AU 7 95697271 95697271 single base substitution C T intron_variant MELA-AU 7 95697515 95697515 single base substitution G A intron_variant MELA-AU 7 95697526 95697526 single base substitution C T intron_variant MELA-AU 7 95697554 95697554 single base substitution G A intron_variant MELA-AU 7 95697944 95697944 single base substitution T C intron_variant MELA-AU 7 95698414 95698414 single base substitution C T intron_variant MELA-AU 7 95698479 95698479 single base substitution C T intron_variant MELA-AU 7 95698988 95698988 single base substitution G A intron_variant MELA-AU 7 95699365 95699365 single base substitution C T intron_variant MELA-AU 7 95699803 95699803 single base substitution T C intron_variant MELA-AU 7 95700250 95700250 single base substitution C A intron_variant MELA-AU 7 95700374 95700374 single base substitution G A intron_variant MELA-AU 7 95700393 95700393 single base substitution C T intron_variant MELA-AU 7 95700602 95700602 single base substitution C T intron_variant MELA-AU 7 95700603 95700603 single base substitution C T intron_variant MELA-AU 7 95700800 95700800 single base substitution C T intron_variant MELA-AU 7 95700995 95700995 single base substitution C T intron_variant MELA-AU 7 95701669 95701669 single base substitution C T intron_variant MELA-AU 7 95701770 95701770 single base substitution G A intron_variant MELA-AU 7 95702935 95702935 single base substitution C T intron_variant MELA-AU 7 95703011 95703011 single base substitution C T intron_variant MELA-AU 7 95703159 95703159 single base substitution C T intron_variant MELA-AU 7 95703160 95703160 single base substitution C T intron_variant MELA-AU 7 95703335 95703335 single base substitution C T intron_variant MELA-AU 7 95703429 95703429 single base substitution C T intron_variant MELA-AU 7 95703555 95703555 single base substitution C T intron_variant MELA-AU 7 95703745 95703745 single base substitution C T intron_variant MELA-AU 7 95704603 95704603 insertion of <=200bp - CA intron_variant MELA-AU 7 95704639 95704639 single base substitution G A intron_variant MELA-AU 7 95704773 95704773 single base substitution C T intron_variant MELA-AU 7 95704988 95704988 single base substitution C T intron_variant MELA-AU 7 95705239 95705239 single base substitution C T intron_variant MELA-AU 7 95705589 95705590 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 7 95706692 95706692 single base substitution C T intron_variant MELA-AU 7 95707848 95707848 single base substitution T C intron_variant MELA-AU 7 95708334 95708334 single base substitution T C intron_variant MELA-AU 7 95708929 95708929 single base substitution G A intron_variant MELA-AU 7 95709114 95709114 single base substitution T G intron_variant MELA-AU 7 95709671 95709671 single base substitution G A splice_region_variant MELA-AU 7 95710166 95710166 single base substitution G A intron_variant MELA-AU 7 95710521 95710521 single base substitution T C intron_variant MELA-AU 7 95710815 95710815 single base substitution C T intron_variant MELA-AU 7 95711640 95711640 single base substitution C T intron_variant MELA-AU 7 95711648 95711648 single base substitution C T intron_variant MELA-AU 7 95711659 95711659 single base substitution C T intron_variant MELA-AU 7 95712358 95712358 single base substitution G A intron_variant MELA-AU 7 95712415 95712415 single base substitution G T intron_variant MELA-AU 7 95712697 95712697 single base substitution C T intron_variant MELA-AU 7 95712704 95712704 single base substitution G A intron_variant MELA-AU 7 95712824 95712824 single base substitution C T intron_variant MELA-AU 7 95712980 95712980 single base substitution C T intron_variant MELA-AU 7 95713391 95713391 single base substitution C T intron_variant MELA-AU 7 95713989 95713989 single base substitution C T intron_variant MELA-AU 7 95714302 95714302 single base substitution G A intron_variant MELA-AU 7 95714529 95714529 single base substitution T A intron_variant MELA-AU 7 95715002 95715002 single base substitution T C intron_variant MELA-AU 7 95715210 95715210 single base substitution T C intron_variant MELA-AU 7 95715337 95715337 single base substitution C T intron_variant MELA-AU 7 95715746 95715746 single base substitution G A intron_variant MELA-AU 7 95715951 95715951 single base substitution C T intron_variant MELA-AU 7 95716117 95716117 single base substitution G A intron_variant MELA-AU 7 95716127 95716127 single base substitution G A intron_variant MELA-AU 7 95716456 95716456 single base substitution C T intron_variant MELA-AU 7 95716667 95716667 single base substitution C T intron_variant MELA-AU 7 95717207 95717207 single base substitution C T intron_variant MELA-AU 7 95717338 95717338 single base substitution C T intron_variant MELA-AU 7 95717560 95717560 single base substitution G A intron_variant MELA-AU 7 95717647 95717647 single base substitution T G intron_variant MELA-AU 7 95717941 95717941 single base substitution C T intron_variant MELA-AU 7 95718064 95718064 single base substitution T C intron_variant MELA-AU 7 95718328 95718329 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95718536 95718536 single base substitution C T intron_variant MELA-AU 7 95718892 95718892 single base substitution C T intron_variant MELA-AU 7 95718951 95718951 single base substitution C T intron_variant MELA-AU 7 95719581 95719581 single base substitution T A intron_variant MELA-AU 7 95719588 95719588 single base substitution C T intron_variant MELA-AU 7 95719692 95719692 single base substitution G A intron_variant MELA-AU 7 95719962 95719962 single base substitution G A intron_variant MELA-AU 7 95720517 95720517 single base substitution G A intron_variant MELA-AU 7 95720657 95720657 single base substitution C T intron_variant MELA-AU 7 95720810 95720810 single base substitution C T intron_variant MELA-AU 7 95721056 95721056 single base substitution T C intron_variant MELA-AU 7 95721197 95721197 single base substitution A C intron_variant MELA-AU 7 95721202 95721202 single base substitution G A intron_variant MELA-AU 7 95722072 95722072 single base substitution G A intron_variant MELA-AU 7 95722312 95722312 single base substitution C T intron_variant MELA-AU 7 95722564 95722564 single base substitution G T intron_variant MELA-AU 7 95722751 95722751 single base substitution T A intron_variant MELA-AU 7 95723063 95723063 single base substitution G A intron_variant MELA-AU 7 95723151 95723151 single base substitution C T intron_variant MELA-AU 7 95724181 95724181 single base substitution A T intron_variant MELA-AU 7 95724750 95724750 single base substitution G A intron_variant MELA-AU 7 95725160 95725160 single base substitution C T intron_variant MELA-AU 7 95725191 95725191 single base substitution G A intron_variant MELA-AU 7 95725273 95725273 single base substitution C T intron_variant MELA-AU 7 95726025 95726025 single base substitution C T intron_variant MELA-AU 7 95726225 95726225 single base substitution C T intron_variant MELA-AU 7 95726499 95726499 single base substitution C T intron_variant MELA-AU 7 95726816 95726816 single base substitution G A intron_variant MELA-AU 7 95726816 95726816 single base substitution G A missense_variant E580K 1738G>A MELA-AU 7 95726816 95726816 single base substitution G A missense_variant E597K 1789G>A MELA-AU 7 95726816 95726816 single base substitution G A missense_variant E600K 1798G>A MELA-AU 7 95726816 95726816 single base substitution G A missense_variant E617K 1849G>A MELA-AU 7 95726907 95726907 single base substitution G A 3_prime_UTR_variant MELA-AU 7 95726907 95726907 single base substitution G A intron_variant MELA-AU 7 95726983 95726983 single base substitution C T 3_prime_UTR_variant MELA-AU 7 95726983 95726983 single base substitution C T intron_variant MELA-AU 7 95727137 95727137 single base substitution G A 3_prime_UTR_variant MELA-AU 7 95727137 95727137 single base substitution G A intron_variant MELA-AU 7 95727152 95727152 single base substitution G A 3_prime_UTR_variant MELA-AU 7 95727152 95727152 single base substitution G A intron_variant MELA-AU 7 95727692 95727692 single base substitution T G 3_prime_UTR_variant MELA-AU 7 95727692 95727692 single base substitution T G downstream_gene_variant MELA-AU 7 95727692 95727692 single base substitution T G intron_variant MELA-AU 7 95727694 95727694 single base substitution C A 3_prime_UTR_variant MELA-AU 7 95727694 95727694 single base substitution C A downstream_gene_variant MELA-AU 7 95727694 95727694 single base substitution C A intron_variant MELA-AU 7 95727694 95727694 single base substitution C T 3_prime_UTR_variant MELA-AU 7 95727694 95727694 single base substitution C T downstream_gene_variant MELA-AU 7 95727694 95727694 single base substitution C T intron_variant MELA-AU 7 95728175 95728175 single base substitution C T downstream_gene_variant MELA-AU 7 95728175 95728175 single base substitution C T intron_variant MELA-AU 7 95728202 95728202 single base substitution C T downstream_gene_variant MELA-AU 7 95728202 95728202 single base substitution C T intron_variant MELA-AU 7 95728334 95728334 single base substitution C T downstream_gene_variant MELA-AU 7 95728334 95728334 single base substitution C T intron_variant MELA-AU 7 95729371 95729371 single base substitution C T downstream_gene_variant MELA-AU 7 95729371 95729371 single base substitution C T intron_variant MELA-AU 7 95729653 95729654 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 95729653 95729654 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95729700 95729700 single base substitution C T downstream_gene_variant MELA-AU 7 95729700 95729700 single base substitution C T intron_variant MELA-AU 7 95729725 95729725 single base substitution C T downstream_gene_variant MELA-AU 7 95729725 95729725 single base substitution C T intron_variant MELA-AU 7 95730367 95730367 single base substitution C T downstream_gene_variant MELA-AU 7 95730367 95730367 single base substitution C T intron_variant MELA-AU 7 95730482 95730482 single base substitution G A downstream_gene_variant MELA-AU 7 95730482 95730482 single base substitution G A intron_variant MELA-AU 7 95730688 95730688 single base substitution C T downstream_gene_variant MELA-AU 7 95730688 95730688 single base substitution C T intron_variant MELA-AU 7 95730766 95730766 single base substitution C T downstream_gene_variant MELA-AU 7 95730766 95730766 single base substitution C T intron_variant MELA-AU 7 95731038 95731038 single base substitution G A downstream_gene_variant MELA-AU 7 95731038 95731038 single base substitution G A intron_variant MELA-AU 7 95731432 95731432 single base substitution G A downstream_gene_variant MELA-AU 7 95731432 95731432 single base substitution G A intron_variant MELA-AU 7 95731646 95731646 single base substitution G A downstream_gene_variant MELA-AU 7 95731646 95731646 single base substitution G A intron_variant MELA-AU 7 95731650 95731650 single base substitution G A downstream_gene_variant MELA-AU 7 95731650 95731650 single base substitution G A intron_variant MELA-AU 7 95731756 95731756 single base substitution G A downstream_gene_variant MELA-AU 7 95731756 95731756 single base substitution G A intron_variant MELA-AU 7 95732224 95732224 single base substitution C T downstream_gene_variant MELA-AU 7 95732224 95732224 single base substitution C T intron_variant MELA-AU 7 95732742 95732742 single base substitution C T intron_variant MELA-AU 7 95732755 95732755 single base substitution C T intron_variant MELA-AU 7 95732767 95732767 single base substitution C T intron_variant MELA-AU 7 95732924 95732924 single base substitution G A intron_variant MELA-AU 7 95733136 95733137 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 95733262 95733262 single base substitution T C intron_variant MELA-AU 7 95733371 95733371 single base substitution C T intron_variant MELA-AU 7 95733619 95733619 single base substitution C T intron_variant MELA-AU 7 95733646 95733646 single base substitution C T intron_variant MELA-AU 7 95733941 95733941 single base substitution C T intron_variant MELA-AU 7 95734064 95734064 single base substitution C T intron_variant MELA-AU 7 95734889 95734889 single base substitution C T intron_variant MELA-AU 7 95734949 95734949 single base substitution T A intron_variant MELA-AU 7 95735482 95735482 single base substitution C T intron_variant MELA-AU 7 95735573 95735573 single base substitution G T intron_variant MELA-AU 7 95735761 95735761 single base substitution C T intron_variant MELA-AU 7 95735961 95735961 single base substitution C T intron_variant MELA-AU 7 95736408 95736408 single base substitution G A intron_variant MELA-AU 7 95736834 95736834 single base substitution C T intron_variant MELA-AU 7 95736840 95736840 single base substitution T C intron_variant MELA-AU 7 95737042 95737042 single base substitution C T intron_variant MELA-AU 7 95737763 95737763 single base substitution G A intron_variant MELA-AU 7 95737790 95737790 single base substitution C T intron_variant MELA-AU 7 95737904 95737905 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 95738388 95738388 single base substitution C T intron_variant MELA-AU 7 95738952 95738952 single base substitution C T intron_variant MELA-AU 7 95739042 95739042 single base substitution C T intron_variant MELA-AU 7 95739940 95739940 single base substitution G A downstream_gene_variant MELA-AU 7 95740043 95740043 single base substitution G A downstream_gene_variant MELA-AU 7 95740080 95740080 single base substitution C T downstream_gene_variant MELA-AU 7 95740257 95740257 single base substitution C T downstream_gene_variant MELA-AU 7 95740411 95740411 single base substitution G A downstream_gene_variant MELA-AU 7 95741185 95741185 single base substitution T C downstream_gene_variant MELA-AU 7 95742249 95742249 single base substitution G A downstream_gene_variant MELA-AU 7 95742655 95742655 single base substitution C T downstream_gene_variant MELA-AU 7 95742787 95742787 single base substitution C T downstream_gene_variant MELA-AU 7 95742847 95742847 single base substitution C T downstream_gene_variant MELA-AU 7 95743527 95743527 single base substitution C T downstream_gene_variant MELA-AU 7 95743540 95743540 single base substitution G A downstream_gene_variant MELA-AU 7 95744265 95744265 single base substitution T G downstream_gene_variant ORCA-IN 7 95417530 95417530 single base substitution G A intron_variant ORCA-IN 7 95419745 95419745 single base substitution C G intron_variant ORCA-IN 7 95440355 95440355 single base substitution T C intron_variant ORCA-IN 7 95476399 95476399 single base substitution C G intron_variant ORCA-IN 7 95487050 95487050 single base substitution C T intron_variant ORCA-IN 7 95507329 95507329 single base substitution G A intron_variant ORCA-IN 7 95515062 95515062 single base substitution G A intron_variant ORCA-IN 7 95524283 95524283 single base substitution G A intron_variant ORCA-IN 7 95527048 95527048 single base substitution G A intron_variant ORCA-IN 7 95553920 95553920 single base substitution G T intron_variant ORCA-IN 7 95564141 95564141 single base substitution G C intron_variant ORCA-IN 7 95576099 95576099 single base substitution A G intron_variant ORCA-IN 7 95588352 95588352 single base substitution G T intron_variant ORCA-IN 7 95591653 95591653 single base substitution T C intron_variant ORCA-IN 7 95595664 95595664 single base substitution C T intron_variant ORCA-IN 7 95608328 95608328 single base substitution G A intron_variant ORCA-IN 7 95631821 95631821 single base substitution G A intron_variant ORCA-IN 7 95654492 95654492 single base substitution C G intron_variant ORCA-IN 7 95663336 95663336 single base substitution T A intron_variant ORCA-IN 7 95687969 95687969 single base substitution C T downstream_gene_variant ORCA-IN 7 95687969 95687969 single base substitution C T intron_variant ORCA-IN 7 95696775 95696775 deletion of <=200bp A - intron_variant ORCA-IN 7 95706586 95706586 single base substitution T G intron_variant ORCA-IN 7 95723321 95723321 single base substitution A G intron_variant ORCA-IN 7 95727128 95727128 deletion of <=200bp A - 3_prime_UTR_variant ORCA-IN 7 95727128 95727128 deletion of <=200bp A - intron_variant ORCA-IN 7 95731021 95731021 single base substitution C A downstream_gene_variant ORCA-IN 7 95731021 95731021 single base substitution C A intron_variant OV-AU 7 95397079 95397079 single base substitution T A upstream_gene_variant OV-AU 7 95400514 95400514 single base substitution A G upstream_gene_variant OV-AU 7 95402002 95402002 single base substitution G T 5_prime_UTR_variant OV-AU 7 95402399 95402399 single base substitution C G intron_variant OV-AU 7 95407578 95407578 single base substitution G T intron_variant OV-AU 7 95409882 95409882 single base substitution G A intron_variant OV-AU 7 95413541 95413541 single base substitution G T intron_variant OV-AU 7 95416753 95416753 single base substitution T A intron_variant OV-AU 7 95418741 95418741 single base substitution A G intron_variant OV-AU 7 95421046 95421046 single base substitution C T intron_variant OV-AU 7 95428990 95428990 single base substitution C A intron_variant OV-AU 7 95428990 95428990 single base substitution C A upstream_gene_variant OV-AU 7 95430898 95430898 single base substitution C G intron_variant OV-AU 7 95430898 95430898 single base substitution C G upstream_gene_variant OV-AU 7 95435084 95435084 single base substitution T C intron_variant OV-AU 7 95439904 95439904 single base substitution C T intron_variant OV-AU 7 95440618 95440618 single base substitution T C intron_variant OV-AU 7 95441227 95441227 single base substitution T A intron_variant OV-AU 7 95446629 95446629 single base substitution T C downstream_gene_variant OV-AU 7 95446629 95446629 single base substitution T C intron_variant OV-AU 7 95452111 95452111 single base substitution C T downstream_gene_variant OV-AU 7 95452111 95452111 single base substitution C T intron_variant OV-AU 7 95452787 95452787 single base substitution T A downstream_gene_variant OV-AU 7 95452787 95452787 single base substitution T A intron_variant OV-AU 7 95455414 95455414 single base substitution C T intron_variant OV-AU 7 95455631 95455631 single base substitution G A intron_variant OV-AU 7 95458039 95458039 single base substitution A C downstream_gene_variant OV-AU 7 95458039 95458039 single base substitution A C intron_variant OV-AU 7 95459301 95459301 single base substitution C G downstream_gene_variant OV-AU 7 95459301 95459301 single base substitution C G intron_variant OV-AU 7 95462189 95462189 single base substitution T C downstream_gene_variant OV-AU 7 95462189 95462189 single base substitution T C intron_variant OV-AU 7 95462189 95462189 single base substitution T C upstream_gene_variant OV-AU 7 95468265 95468265 single base substitution T C intron_variant OV-AU 7 95469872 95469872 single base substitution G A intron_variant OV-AU 7 95474762 95474762 single base substitution C G intron_variant OV-AU 7 95477230 95477230 single base substitution T C intron_variant OV-AU 7 95478867 95478867 single base substitution C G intron_variant OV-AU 7 95480358 95480358 single base substitution C G intron_variant OV-AU 7 95481239 95481239 single base substitution G A intron_variant OV-AU 7 95481944 95481944 single base substitution G A intron_variant OV-AU 7 95485120 95485120 single base substitution G T intron_variant OV-AU 7 95485799 95485799 single base substitution C T intron_variant OV-AU 7 95486407 95486407 single base substitution G C intron_variant OV-AU 7 95489026 95489026 single base substitution G A intron_variant OV-AU 7 95493840 95493840 single base substitution G T intron_variant OV-AU 7 95494304 95494304 single base substitution G A intron_variant OV-AU 7 95495258 95495258 single base substitution T C intron_variant OV-AU 7 95504629 95504629 single base substitution G C intron_variant OV-AU 7 95510027 95510027 single base substitution A T intron_variant OV-AU 7 95517176 95517176 single base substitution G A intron_variant OV-AU 7 95522436 95522436 single base substitution A G intron_variant OV-AU 7 95523768 95523768 single base substitution T C intron_variant OV-AU 7 95527327 95527327 single base substitution A G intron_variant OV-AU 7 95530599 95530599 single base substitution T C intron_variant OV-AU 7 95534570 95534570 single base substitution G T intron_variant OV-AU 7 95535859 95535859 single base substitution G A intron_variant OV-AU 7 95536899 95536899 single base substitution C G intron_variant OV-AU 7 95540531 95540531 single base substitution G A intron_variant OV-AU 7 95541509 95541509 single base substitution C A intron_variant OV-AU 7 95552076 95552076 single base substitution A G intron_variant OV-AU 7 95554841 95554841 single base substitution T G intron_variant OV-AU 7 95559728 95559728 single base substitution G T intron_variant OV-AU 7 95560225 95560225 single base substitution A G intron_variant OV-AU 7 95561835 95561835 single base substitution A C intron_variant OV-AU 7 95563921 95563921 single base substitution C G intron_variant OV-AU 7 95567186 95567186 single base substitution C A intron_variant OV-AU 7 95570283 95570283 single base substitution T A intron_variant OV-AU 7 95574448 95574448 single base substitution C G intron_variant OV-AU 7 95577049 95577049 single base substitution G T intron_variant OV-AU 7 95584860 95584860 single base substitution A C intron_variant OV-AU 7 95586368 95586368 single base substitution C G intron_variant OV-AU 7 95589977 95589977 single base substitution A T intron_variant OV-AU 7 95592799 95592799 single base substitution G A intron_variant OV-AU 7 95596804 95596804 single base substitution G T intron_variant OV-AU 7 95597066 95597066 single base substitution C T intron_variant OV-AU 7 95603773 95603773 single base substitution C T intron_variant OV-AU 7 95606606 95606606 single base substitution T C intron_variant OV-AU 7 95607906 95607906 single base substitution G A intron_variant OV-AU 7 95610066 95610066 single base substitution T A intron_variant OV-AU 7 95611869 95611869 single base substitution A C intron_variant OV-AU 7 95616938 95616938 single base substitution C A intron_variant OV-AU 7 95618428 95618428 single base substitution C T intron_variant OV-AU 7 95618899 95618899 single base substitution C G intron_variant OV-AU 7 95619463 95619463 single base substitution A T intron_variant OV-AU 7 95621248 95621248 single base substitution C T intron_variant OV-AU 7 95621256 95621256 single base substitution T C intron_variant OV-AU 7 95622553 95622553 single base substitution G T intron_variant OV-AU 7 95622554 95622554 single base substitution C T intron_variant OV-AU 7 95625978 95625978 single base substitution C T intron_variant OV-AU 7 95626788 95626788 single base substitution T A intron_variant OV-AU 7 95629887 95629887 single base substitution C G intron_variant OV-AU 7 95635865 95635865 single base substitution C G intron_variant OV-AU 7 95636892 95636892 single base substitution A C intron_variant OV-AU 7 95638688 95638688 single base substitution C T intron_variant OV-AU 7 95642678 95642678 single base substitution C A intron_variant OV-AU 7 95644720 95644720 single base substitution A G intron_variant OV-AU 7 95647678 95647678 single base substitution G T intron_variant OV-AU 7 95648166 95648166 single base substitution C T intron_variant OV-AU 7 95650287 95650287 single base substitution T A intron_variant OV-AU 7 95656655 95656655 single base substitution A C intron_variant OV-AU 7 95659731 95659731 single base substitution C G downstream_gene_variant OV-AU 7 95659731 95659731 single base substitution C G intron_variant OV-AU 7 95659731 95659731 single base substitution C G upstream_gene_variant OV-AU 7 95662578 95662578 single base substitution T C downstream_gene_variant OV-AU 7 95662578 95662578 single base substitution T C intron_variant OV-AU 7 95663867 95663867 single base substitution A G intron_variant OV-AU 7 95666475 95666475 single base substitution G A intron_variant OV-AU 7 95671375 95671375 single base substitution A T intron_variant OV-AU 7 95671815 95671815 single base substitution G A intron_variant OV-AU 7 95672260 95672260 single base substitution T G intron_variant OV-AU 7 95673572 95673572 single base substitution T A intron_variant OV-AU 7 95673740 95673740 single base substitution A C intron_variant OV-AU 7 95674986 95674986 single base substitution T G intron_variant OV-AU 7 95675858 95675858 single base substitution G T intron_variant OV-AU 7 95682047 95682047 single base substitution A G intron_variant OV-AU 7 95684816 95684816 single base substitution T A intron_variant OV-AU 7 95686489 95686489 single base substitution A T downstream_gene_variant OV-AU 7 95686489 95686489 single base substitution A T intron_variant OV-AU 7 95687318 95687318 single base substitution T A downstream_gene_variant OV-AU 7 95687318 95687318 single base substitution T A intron_variant OV-AU 7 95688148 95688148 single base substitution G A downstream_gene_variant OV-AU 7 95688148 95688148 single base substitution G A intron_variant OV-AU 7 95690628 95690628 single base substitution C G intron_variant OV-AU 7 95693561 95693561 single base substitution C T intron_variant OV-AU 7 95693921 95693921 single base substitution G T intron_variant OV-AU 7 95694435 95694435 single base substitution C A intron_variant OV-AU 7 95696950 95696950 single base substitution T G intron_variant OV-AU 7 95705991 95705991 single base substitution C T intron_variant OV-AU 7 95707982 95707982 single base substitution A T intron_variant OV-AU 7 95708301 95708301 single base substitution T A intron_variant OV-AU 7 95711634 95711634 single base substitution T A intron_variant OV-AU 7 95719283 95719283 single base substitution C A intron_variant OV-AU 7 95725746 95725746 single base substitution A T intron_variant OV-AU 7 95726633 95726633 single base substitution A T intron_variant OV-AU 7 95731318 95731318 single base substitution A T downstream_gene_variant OV-AU 7 95731318 95731318 single base substitution A T intron_variant OV-AU 7 95731529 95731529 single base substitution G A downstream_gene_variant OV-AU 7 95731529 95731529 single base substitution G A intron_variant OV-AU 7 95733992 95733992 single base substitution A T intron_variant OV-AU 7 95734076 95734076 single base substitution G A intron_variant OV-AU 7 95737503 95737503 single base substitution T C intron_variant OV-AU 7 95738318 95738318 single base substitution A G intron_variant OV-AU 7 95742674 95742674 single base substitution T C downstream_gene_variant OV-US 7 95442612 95442612 single base substitution G T downstream_gene_variant OV-US 7 95442612 95442612 single base substitution G T stop_gained G110* 328G>T OV-US 7 95442612 95442612 single base substitution G T stop_gained G93* 277G>T OV-US 7 95442627 95442627 single base substitution G A downstream_gene_variant OV-US 7 95442627 95442627 single base substitution G A missense_variant G115S 343G>A OV-US 7 95442627 95442627 single base substitution G A missense_variant G98S 292G>A OV-US 7 95705504 95705504 single base substitution A C missense_variant T529P 1585A>C OV-US 7 95705504 95705504 single base substitution A C missense_variant T546P 1636A>C OV-US 7 95705504 95705504 single base substitution A C missense_variant T549P 1645A>C OV-US 7 95705504 95705504 single base substitution A C missense_variant T566P 1696A>C PACA-AU 7 95401117 95401117 single base substitution T G upstream_gene_variant PACA-AU 7 95405484 95405484 single base substitution G A intron_variant PACA-AU 7 95409192 95409192 single base substitution G T intron_variant PACA-AU 7 95409193 95409193 single base substitution A T intron_variant PACA-AU 7 95412646 95412646 single base substitution G A intron_variant PACA-AU 7 95413582 95413582 single base substitution A T intron_variant PACA-AU 7 95417049 95417049 deletion of <=200bp A - intron_variant PACA-AU 7 95419422 95419422 single base substitution C T intron_variant PACA-AU 7 95423111 95423111 single base substitution G A intron_variant PACA-AU 7 95427896 95427896 deletion of <=200bp C - intron_variant PACA-AU 7 95431221 95431221 single base substitution G A intron_variant PACA-AU 7 95431221 95431221 single base substitution G A upstream_gene_variant PACA-AU 7 95431428 95431428 single base substitution C G intron_variant PACA-AU 7 95431428 95431428 single base substitution C G upstream_gene_variant PACA-AU 7 95434062 95434062 insertion of <=200bp - A frameshift_variant L7L? PACA-AU 7 95435306 95435306 single base substitution T G intron_variant PACA-AU 7 95439562 95439562 single base substitution T G intron_variant PACA-AU 7 95439805 95439805 single base substitution G A synonymous_variant P70P 210G>A PACA-AU 7 95443512 95443512 single base substitution G A downstream_gene_variant PACA-AU 7 95443512 95443512 single base substitution G A intron_variant PACA-AU 7 95443615 95443615 single base substitution G C downstream_gene_variant PACA-AU 7 95443615 95443615 single base substitution G C intron_variant PACA-AU 7 95444061 95444061 single base substitution C T downstream_gene_variant PACA-AU 7 95444061 95444061 single base substitution C T intron_variant PACA-AU 7 95444066 95444066 single base substitution G A downstream_gene_variant PACA-AU 7 95444066 95444066 single base substitution G A intron_variant PACA-AU 7 95445199 95445199 single base substitution G C downstream_gene_variant PACA-AU 7 95445199 95445199 single base substitution G C intron_variant PACA-AU 7 95446241 95446241 single base substitution G T downstream_gene_variant PACA-AU 7 95446241 95446241 single base substitution G T intron_variant PACA-AU 7 95451080 95451081 deletion of <=200bp TC - downstream_gene_variant PACA-AU 7 95451080 95451081 deletion of <=200bp TC - intron_variant PACA-AU 7 95456701 95456701 single base substitution A G intron_variant PACA-AU 7 95457425 95457425 single base substitution T C intron_variant PACA-AU 7 95457425 95457425 single base substitution T C missense_variant L124P 371T>C PACA-AU 7 95457425 95457425 single base substitution T C missense_variant L141P 422T>C PACA-AU 7 95478256 95478256 single base substitution A G intron_variant PACA-AU 7 95481985 95481985 single base substitution A C intron_variant PACA-AU 7 95487737 95487737 deletion of <=200bp T - intron_variant PACA-AU 7 95491043 95491043 single base substitution T C intron_variant PACA-AU 7 95493441 95493441 deletion of <=200bp T - intron_variant PACA-AU 7 95494397 95494397 single base substitution C T intron_variant PACA-AU 7 95496054 95496054 single base substitution C A intron_variant PACA-AU 7 95496570 95496570 single base substitution A G intron_variant PACA-AU 7 95507260 95507260 single base substitution T A intron_variant PACA-AU 7 95517335 95517335 single base substitution G A intron_variant PACA-AU 7 95521038 95521038 single base substitution G T intron_variant PACA-AU 7 95523879 95523879 single base substitution C A intron_variant PACA-AU 7 95524786 95524786 single base substitution G A intron_variant PACA-AU 7 95525327 95525327 single base substitution G A intron_variant PACA-AU 7 95531963 95531963 deletion of <=200bp T - intron_variant PACA-AU 7 95534423 95534423 single base substitution T A intron_variant PACA-AU 7 95536500 95536500 single base substitution G T intron_variant PACA-AU 7 95540131 95540131 single base substitution A G intron_variant PACA-AU 7 95543723 95543723 single base substitution C T intron_variant PACA-AU 7 95555222 95555222 single base substitution A T intron_variant PACA-AU 7 95562609 95562613 deletion of <=200bp AAAGA - intron_variant PACA-AU 7 95563028 95563028 single base substitution A T intron_variant PACA-AU 7 95566307 95566307 single base substitution C T intron_variant PACA-AU 7 95569177 95569177 single base substitution G A intron_variant PACA-AU 7 95574079 95574079 single base substitution G A intron_variant PACA-AU 7 95576028 95576028 single base substitution G T intron_variant PACA-AU 7 95584551 95584551 single base substitution G A intron_variant PACA-AU 7 95587008 95587008 single base substitution G A intron_variant PACA-AU 7 95587579 95587579 single base substitution T C intron_variant PACA-AU 7 95591513 95591513 single base substitution G A intron_variant PACA-AU 7 95594803 95594803 single base substitution T C intron_variant PACA-AU 7 95599847 95599847 single base substitution G T intron_variant PACA-AU 7 95606494 95606494 single base substitution C A intron_variant PACA-AU 7 95607283 95607283 single base substitution G A intron_variant PACA-AU 7 95608570 95608570 single base substitution C T intron_variant PACA-AU 7 95610760 95610760 single base substitution T C intron_variant PACA-AU 7 95620341 95620341 insertion of <=200bp - TAAAA intron_variant PACA-AU 7 95620361 95620361 single base substitution T A intron_variant PACA-AU 7 95622445 95622445 single base substitution G T intron_variant PACA-AU 7 95624562 95624562 insertion of <=200bp - AAATAAAT intron_variant PACA-AU 7 95628271 95628271 deletion of <=200bp A - intron_variant PACA-AU 7 95635037 95635037 single base substitution T C intron_variant PACA-AU 7 95637093 95637093 single base substitution T A intron_variant PACA-AU 7 95637600 95637600 single base substitution A G intron_variant PACA-AU 7 95638497 95638497 single base substitution T C intron_variant PACA-AU 7 95639556 95639556 single base substitution C A intron_variant PACA-AU 7 95641912 95641912 single base substitution A C intron_variant PACA-AU 7 95643347 95643347 single base substitution C A intron_variant PACA-AU 7 95644221 95644221 single base substitution G C intron_variant PACA-AU 7 95655518 95655518 single base substitution G T intron_variant PACA-AU 7 95655747 95655747 single base substitution G T intron_variant PACA-AU 7 95658446 95658446 single base substitution T C downstream_gene_variant PACA-AU 7 95658446 95658446 single base substitution T C intron_variant PACA-AU 7 95658446 95658446 single base substitution T C upstream_gene_variant PACA-AU 7 95661423 95661436 deletion of <=200bp ACATTGTGCCAATA - downstream_gene_variant PACA-AU 7 95661423 95661436 deletion of <=200bp ACATTGTGCCAATA - intron_variant PACA-AU 7 95661423 95661436 deletion of <=200bp ACATTGTGCCAATA - upstream_gene_variant PACA-AU 7 95663816 95663816 single base substitution C T intron_variant PACA-AU 7 95667160 95667160 single base substitution T C intron_variant PACA-AU 7 95669486 95669486 single base substitution C T intron_variant PACA-AU 7 95669561 95669561 single base substitution T A intron_variant PACA-AU 7 95684359 95684359 single base substitution G A intron_variant PACA-AU 7 95686423 95686423 single base substitution G C downstream_gene_variant PACA-AU 7 95686423 95686423 single base substitution G C intron_variant PACA-AU 7 95694326 95694326 single base substitution C T intron_variant PACA-AU 7 95695889 95695889 single base substitution T C intron_variant PACA-AU 7 95696323 95696325 deletion of <=200bp CAT - intron_variant PACA-AU 7 95696986 95696986 single base substitution C T intron_variant PACA-AU 7 95697187 95697187 single base substitution G A intron_variant PACA-AU 7 95699824 95699824 single base substitution T C intron_variant PACA-AU 7 95701373 95701373 single base substitution C A intron_variant PACA-AU 7 95702407 95702407 single base substitution A G intron_variant PACA-AU 7 95709123 95709123 single base substitution A T intron_variant PACA-AU 7 95709861 95709861 single base substitution G A intron_variant PACA-AU 7 95710112 95710112 single base substitution G A intron_variant PACA-AU 7 95718483 95718483 single base substitution T G intron_variant PACA-AU 7 95729072 95729072 single base substitution G A downstream_gene_variant PACA-AU 7 95729072 95729072 single base substitution G A intron_variant PACA-AU 7 95732169 95732169 single base substitution G A downstream_gene_variant PACA-AU 7 95732169 95732169 single base substitution G A intron_variant PACA-AU 7 95734471 95734475 deletion of <=200bp TATAT - intron_variant PACA-AU 7 95736088 95736088 single base substitution T C intron_variant PACA-AU 7 95741185 95741185 single base substitution T C downstream_gene_variant PACA-AU 7 95742296 95742296 single base substitution C T downstream_gene_variant PACA-AU 7 95742524 95742524 single base substitution T C downstream_gene_variant PACA-CA 7 95398523 95398523 single base substitution C A upstream_gene_variant PACA-CA 7 95399192 95399192 single base substitution T C upstream_gene_variant PACA-CA 7 95406581 95406581 single base substitution T C intron_variant PACA-CA 7 95407368 95407368 single base substitution T C intron_variant PACA-CA 7 95407576 95407576 single base substitution C T intron_variant PACA-CA 7 95408937 95408937 single base substitution T C intron_variant PACA-CA 7 95411932 95411932 single base substitution C T intron_variant PACA-CA 7 95412060 95412060 single base substitution G A intron_variant PACA-CA 7 95415968 95415968 single base substitution A C intron_variant PACA-CA 7 95416139 95416139 single base substitution A G intron_variant PACA-CA 7 95417910 95417910 single base substitution G A intron_variant PACA-CA 7 95427623 95427623 single base substitution C T intron_variant PACA-CA 7 95431268 95431268 single base substitution G A intron_variant PACA-CA 7 95431268 95431268 single base substitution G A upstream_gene_variant PACA-CA 7 95431525 95431525 single base substitution C T intron_variant PACA-CA 7 95431525 95431525 single base substitution C T upstream_gene_variant PACA-CA 7 95434271 95434271 single base substitution A T intron_variant PACA-CA 7 95434674 95434674 insertion of <=200bp - T intron_variant PACA-CA 7 95435599 95435599 single base substitution C G intron_variant PACA-CA 7 95437631 95437631 deletion of <=200bp T - intron_variant PACA-CA 7 95437785 95437785 single base substitution G A intron_variant PACA-CA 7 95439263 95439263 single base substitution C T intron_variant PACA-CA 7 95442632 95442632 single base substitution T C downstream_gene_variant PACA-CA 7 95442632 95442632 single base substitution T C synonymous_variant D116D 348T>C PACA-CA 7 95442632 95442632 single base substitution T C synonymous_variant D99D 297T>C PACA-CA 7 95445614 95445614 single base substitution G A downstream_gene_variant PACA-CA 7 95445614 95445614 single base substitution G A intron_variant PACA-CA 7 95446822 95446822 single base substitution A G downstream_gene_variant PACA-CA 7 95446822 95446822 single base substitution A G intron_variant PACA-CA 7 95449771 95449771 single base substitution T C downstream_gene_variant PACA-CA 7 95449771 95449771 single base substitution T C intron_variant PACA-CA 7 95450701 95450701 single base substitution G C downstream_gene_variant PACA-CA 7 95450701 95450701 single base substitution G C intron_variant PACA-CA 7 95451591 95451591 single base substitution G T downstream_gene_variant PACA-CA 7 95451591 95451591 single base substitution G T intron_variant PACA-CA 7 95451635 95451635 single base substitution C T downstream_gene_variant PACA-CA 7 95451635 95451635 single base substitution C T intron_variant PACA-CA 7 95453892 95453892 single base substitution T G intron_variant PACA-CA 7 95454169 95454169 single base substitution C T intron_variant PACA-CA 7 95458843 95458843 insertion of <=200bp - A downstream_gene_variant PACA-CA 7 95458843 95458843 insertion of <=200bp - A intron_variant PACA-CA 7 95459167 95459170 deletion of <=200bp ATTT - downstream_gene_variant PACA-CA 7 95459167 95459170 deletion of <=200bp ATTT - intron_variant PACA-CA 7 95474059 95474059 single base substitution C A intron_variant PACA-CA 7 95477948 95477948 single base substitution C T intron_variant PACA-CA 7 95483541 95483541 single base substitution T C intron_variant PACA-CA 7 95487571 95487571 single base substitution A C intron_variant PACA-CA 7 95488466 95488466 insertion of <=200bp - T intron_variant PACA-CA 7 95494469 95494469 single base substitution G A intron_variant PACA-CA 7 95496042 95496042 single base substitution T A intron_variant PACA-CA 7 95498615 95498615 single base substitution A C intron_variant PACA-CA 7 95498846 95498846 single base substitution G A intron_variant PACA-CA 7 95502679 95502679 single base substitution A G intron_variant PACA-CA 7 95504718 95504718 single base substitution C G intron_variant PACA-CA 7 95507781 95507781 single base substitution A G intron_variant PACA-CA 7 95509269 95509269 single base substitution G C intron_variant PACA-CA 7 95510536 95510536 single base substitution A G intron_variant PACA-CA 7 95517880 95517880 single base substitution C T intron_variant PACA-CA 7 95518592 95518592 single base substitution G A intron_variant PACA-CA 7 95521415 95521415 single base substitution G A intron_variant PACA-CA 7 95521490 95521490 single base substitution C T intron_variant PACA-CA 7 95521513 95521513 single base substitution A T intron_variant PACA-CA 7 95523205 95523205 single base substitution G T intron_variant PACA-CA 7 95524886 95524886 single base substitution G A intron_variant PACA-CA 7 95526398 95526398 single base substitution T C intron_variant PACA-CA 7 95529575 95529575 single base substitution T C intron_variant PACA-CA 7 95530431 95530431 single base substitution C T intron_variant PACA-CA 7 95533573 95533573 single base substitution C T intron_variant PACA-CA 7 95536355 95536355 single base substitution C G intron_variant PACA-CA 7 95538984 95538984 deletion of <=200bp T - intron_variant PACA-CA 7 95544513 95544513 single base substitution C T intron_variant PACA-CA 7 95545896 95545896 single base substitution A T intron_variant PACA-CA 7 95547851 95547851 single base substitution C A intron_variant PACA-CA 7 95548428 95548428 single base substitution T C intron_variant PACA-CA 7 95550862 95550862 single base substitution T C intron_variant PACA-CA 7 95552188 95552188 single base substitution T G intron_variant PACA-CA 7 95552372 95552372 single base substitution C A intron_variant PACA-CA 7 95552810 95552810 single base substitution T C intron_variant PACA-CA 7 95556311 95556311 single base substitution C G intron_variant PACA-CA 7 95556400 95556400 single base substitution C T intron_variant PACA-CA 7 95556434 95556434 single base substitution C G intron_variant PACA-CA 7 95556863 95556863 single base substitution C T intron_variant PACA-CA 7 95557037 95557037 single base substitution C G intron_variant PACA-CA 7 95557163 95557163 single base substitution T C intron_variant PACA-CA 7 95563027 95563027 single base substitution T A intron_variant PACA-CA 7 95563961 95563961 insertion of <=200bp - T intron_variant PACA-CA 7 95563966 95563966 single base substitution A C intron_variant PACA-CA 7 95564844 95564844 single base substitution T A intron_variant PACA-CA 7 95570906 95570906 single base substitution G T intron_variant PACA-CA 7 95571100 95571100 single base substitution A T intron_variant PACA-CA 7 95571223 95571223 single base substitution T G intron_variant PACA-CA 7 95574407 95574407 single base substitution A C intron_variant PACA-CA 7 95574416 95574416 single base substitution T A intron_variant PACA-CA 7 95574891 95574891 deletion of <=200bp A - intron_variant PACA-CA 7 95578767 95578767 single base substitution C A intron_variant PACA-CA 7 95578989 95578989 single base substitution C G intron_variant PACA-CA 7 95582403 95582403 single base substitution T G intron_variant PACA-CA 7 95583352 95583352 single base substitution C T intron_variant PACA-CA 7 95584652 95584652 single base substitution A T intron_variant PACA-CA 7 95586769 95586769 single base substitution G C intron_variant PACA-CA 7 95590714 95590714 single base substitution A T intron_variant PACA-CA 7 95592067 95592067 single base substitution T C intron_variant PACA-CA 7 95593477 95593477 single base substitution G A intron_variant PACA-CA 7 95593934 95593934 single base substitution C G intron_variant PACA-CA 7 95594041 95594041 single base substitution G A intron_variant PACA-CA 7 95594586 95594586 single base substitution G A intron_variant PACA-CA 7 95598885 95598885 single base substitution T C intron_variant PACA-CA 7 95602244 95602244 single base substitution G A intron_variant PACA-CA 7 95605009 95605009 single base substitution T G intron_variant PACA-CA 7 95606193 95606193 single base substitution C T intron_variant PACA-CA 7 95611053 95611053 single base substitution T C intron_variant PACA-CA 7 95618352 95618352 single base substitution G T intron_variant PACA-CA 7 95619103 95619103 single base substitution T A intron_variant PACA-CA 7 95620595 95620595 single base substitution T C intron_variant PACA-CA 7 95622210 95622210 single base substitution G A intron_variant PACA-CA 7 95622745 95622745 insertion of <=200bp - AA intron_variant PACA-CA 7 95622746 95622746 insertion of <=200bp - AATATTATTG intron_variant PACA-CA 7 95622747 95622747 insertion of <=200bp - AGAAACAT intron_variant PACA-CA 7 95624657 95624657 single base substitution C T intron_variant PACA-CA 7 95625627 95625628 deletion of <=200bp GA - intron_variant PACA-CA 7 95625863 95625863 single base substitution C T intron_variant PACA-CA 7 95626286 95626302 deletion of <=200bp GAGCCAAGTATCTTTTT - intron_variant PACA-CA 7 95627690 95627690 single base substitution A G intron_variant PACA-CA 7 95627821 95627825 deletion of <=200bp CTATC - intron_variant PACA-CA 7 95632677 95632677 single base substitution C T intron_variant PACA-CA 7 95632806 95632806 single base substitution C T intron_variant PACA-CA 7 95637063 95637063 single base substitution C T intron_variant PACA-CA 7 95637781 95637781 insertion of <=200bp - T intron_variant PACA-CA 7 95637889 95637889 single base substitution C T intron_variant PACA-CA 7 95639517 95639517 single base substitution T A intron_variant PACA-CA 7 95648699 95648699 single base substitution T A intron_variant PACA-CA 7 95649852 95649852 single base substitution A T intron_variant PACA-CA 7 95650107 95650107 single base substitution G T intron_variant PACA-CA 7 95655743 95655743 single base substitution T G intron_variant PACA-CA 7 95656213 95656213 single base substitution A G intron_variant PACA-CA 7 95664023 95664036 deletion of <=200bp ATCACAGGATCAGA - intron_variant PACA-CA 7 95668803 95668803 single base substitution A T intron_variant PACA-CA 7 95671325 95671325 single base substitution A G intron_variant PACA-CA 7 95672086 95672086 single base substitution A G intron_variant PACA-CA 7 95674670 95674670 single base substitution C T intron_variant PACA-CA 7 95682319 95682319 single base substitution T C intron_variant PACA-CA 7 95682393 95682393 single base substitution C G intron_variant PACA-CA 7 95690576 95690576 single base substitution A G intron_variant PACA-CA 7 95691026 95691026 single base substitution A T intron_variant PACA-CA 7 95692411 95692411 single base substitution G A intron_variant PACA-CA 7 95692419 95692419 single base substitution A G intron_variant PACA-CA 7 95698554 95698554 single base substitution G T intron_variant PACA-CA 7 95698653 95698653 single base substitution A G intron_variant PACA-CA 7 95698762 95698762 single base substitution A C intron_variant PACA-CA 7 95698927 95698927 single base substitution T A intron_variant PACA-CA 7 95699769 95699769 single base substitution A T intron_variant PACA-CA 7 95704943 95704943 single base substitution A T intron_variant PACA-CA 7 95708462 95708462 single base substitution T C intron_variant PACA-CA 7 95714060 95714060 insertion of <=200bp - A intron_variant PACA-CA 7 95714688 95714688 single base substitution C A intron_variant PACA-CA 7 95715171 95715171 single base substitution T G intron_variant PACA-CA 7 95717960 95717960 single base substitution G A intron_variant PACA-CA 7 95718161 95718161 single base substitution G A intron_variant PACA-CA 7 95718577 95718577 single base substitution C G intron_variant PACA-CA 7 95723746 95723746 single base substitution G A intron_variant PACA-CA 7 95725177 95725177 single base substitution G C intron_variant PACA-CA 7 95727293 95727293 single base substitution T C 3_prime_UTR_variant PACA-CA 7 95727293 95727293 single base substitution T C intron_variant PACA-CA 7 95734523 95734523 deletion of <=200bp T - intron_variant PACA-CA 7 95735834 95735834 single base substitution C T intron_variant PACA-CA 7 95735865 95735865 single base substitution G A intron_variant PACA-CA 7 95738067 95738067 single base substitution G A intron_variant PACA-CA 7 95741158 95741158 insertion of <=200bp - TTCT downstream_gene_variant PACA-CA 7 95743067 95743067 single base substitution G A downstream_gene_variant PAEN-AU 7 95442683 95442683 single base substitution T G downstream_gene_variant PAEN-AU 7 95442683 95442683 single base substitution T G intron_variant PAEN-AU 7 95456775 95456775 single base substitution C A intron_variant PAEN-AU 7 95496994 95496994 single base substitution G T intron_variant PAEN-AU 7 95518213 95518213 single base substitution C G intron_variant PAEN-AU 7 95525235 95525235 single base substitution G A intron_variant PAEN-AU 7 95550034 95550034 single base substitution G T intron_variant PAEN-AU 7 95570181 95570181 single base substitution G C intron_variant PAEN-AU 7 95583102 95583102 single base substitution A G intron_variant PAEN-AU 7 95583824 95583824 single base substitution A G intron_variant PAEN-AU 7 95614247 95614247 single base substitution T A exon_variant PAEN-AU 7 95614247 95614247 single base substitution T A missense_variant I214N 641T>A PAEN-AU 7 95614247 95614247 single base substitution T A missense_variant I231N 692T>A PAEN-AU 7 95614247 95614247 single base substitution T A missense_variant I234N 701T>A PAEN-AU 7 95614247 95614247 single base substitution T A missense_variant I251N 752T>A PAEN-AU 7 95615115 95615115 single base substitution C T intron_variant PAEN-AU 7 95624562 95624562 insertion of <=200bp - AAATAAAT intron_variant PAEN-AU 7 95625476 95625476 single base substitution G T intron_variant PAEN-AU 7 95628829 95628829 single base substitution T G intron_variant PAEN-AU 7 95633957 95633957 single base substitution T C intron_variant PAEN-AU 7 95636885 95636885 deletion of <=200bp A - intron_variant PAEN-AU 7 95657545 95657545 single base substitution C A exon_variant PAEN-AU 7 95657545 95657545 single base substitution C A missense_variant T323N 968C>A PAEN-AU 7 95657545 95657545 single base substitution C A missense_variant T340N 1019C>A PAEN-AU 7 95657545 95657545 single base substitution C A missense_variant T343N 1028C>A PAEN-AU 7 95657545 95657545 single base substitution C A missense_variant T360N 1079C>A PAEN-AU 7 95657545 95657545 single base substitution C A upstream_gene_variant PAEN-AU 7 95661334 95661334 single base substitution A G downstream_gene_variant PAEN-AU 7 95661334 95661334 single base substitution A G intron_variant PAEN-AU 7 95661334 95661334 single base substitution A G upstream_gene_variant PAEN-AU 7 95668639 95668639 single base substitution G A exon_variant PAEN-AU 7 95668639 95668639 single base substitution G A missense_variant G452E 1355G>A PAEN-AU 7 95668639 95668639 single base substitution G A missense_variant G469E 1406G>A PAEN-AU 7 95668639 95668639 single base substitution G A missense_variant G472E 1415G>A PAEN-AU 7 95668639 95668639 single base substitution G A missense_variant G489E 1466G>A PAEN-AU 7 95693553 95693553 single base substitution T C intron_variant PAEN-AU 7 95741151 95741151 single base substitution T C downstream_gene_variant PAEN-IT 7 95424463 95424463 single base substitution C T intron_variant PAEN-IT 7 95451509 95451509 single base substitution A G downstream_gene_variant PAEN-IT 7 95451509 95451509 single base substitution A G intron_variant PAEN-IT 7 95457108 95457108 single base substitution G T intron_variant PAEN-IT 7 95493689 95493689 single base substitution C T intron_variant PAEN-IT 7 95577117 95577117 single base substitution G A intron_variant PAEN-IT 7 95609931 95609931 single base substitution C T intron_variant PAEN-IT 7 95614265 95614265 single base substitution G T exon_variant PAEN-IT 7 95614265 95614265 single base substitution G T missense_variant G220V 659G>T PAEN-IT 7 95614265 95614265 single base substitution G T missense_variant G237V 710G>T PAEN-IT 7 95614265 95614265 single base substitution G T missense_variant G240V 719G>T PAEN-IT 7 95614265 95614265 single base substitution G T missense_variant G257V 770G>T PAEN-IT 7 95693750 95693750 single base substitution A G intron_variant PAEN-IT 7 95703531 95703531 single base substitution G A intron_variant PBCA-DE 7 95400630 95400630 single base substitution G T upstream_gene_variant PBCA-DE 7 95411166 95411166 single base substitution G T intron_variant PBCA-DE 7 95412288 95412288 single base substitution G T intron_variant PBCA-DE 7 95412559 95412559 single base substitution G C intron_variant PBCA-DE 7 95415627 95415627 single base substitution G A intron_variant PBCA-DE 7 95424942 95424942 single base substitution G A intron_variant PBCA-DE 7 95425605 95425606 deletion of <=200bp TC - intron_variant PBCA-DE 7 95429946 95429946 single base substitution G A intron_variant PBCA-DE 7 95429946 95429946 single base substitution G A upstream_gene_variant PBCA-DE 7 95436711 95436711 single base substitution C T intron_variant PBCA-DE 7 95444028 95444028 single base substitution G A downstream_gene_variant PBCA-DE 7 95444028 95444028 single base substitution G A intron_variant PBCA-DE 7 95448667 95448667 deletion of <=200bp T - downstream_gene_variant PBCA-DE 7 95448667 95448667 deletion of <=200bp T - intron_variant PBCA-DE 7 95450970 95450970 single base substitution G A downstream_gene_variant PBCA-DE 7 95450970 95450970 single base substitution G A intron_variant PBCA-DE 7 95451795 95451795 single base substitution G A downstream_gene_variant PBCA-DE 7 95451795 95451795 single base substitution G A intron_variant PBCA-DE 7 95457940 95457940 single base substitution T A downstream_gene_variant PBCA-DE 7 95457940 95457940 single base substitution T A intron_variant PBCA-DE 7 95467431 95467431 single base substitution G A intron_variant PBCA-DE 7 95468014 95468014 insertion of <=200bp - T intron_variant PBCA-DE 7 95482405 95482405 single base substitution A C intron_variant PBCA-DE 7 95499412 95499412 single base substitution G A intron_variant PBCA-DE 7 95511769 95511769 single base substitution C A intron_variant PBCA-DE 7 95518816 95518816 single base substitution T C intron_variant PBCA-DE 7 95528667 95528667 single base substitution C T intron_variant PBCA-DE 7 95529983 95529983 single base substitution T C intron_variant PBCA-DE 7 95541350 95541350 deletion of <=200bp T - intron_variant PBCA-DE 7 95565293 95565293 insertion of <=200bp - T intron_variant PBCA-DE 7 95568187 95568187 insertion of <=200bp - T intron_variant PBCA-DE 7 95570128 95570128 single base substitution G A intron_variant PBCA-DE 7 95570941 95570941 single base substitution G A intron_variant PBCA-DE 7 95577980 95577980 single base substitution G T intron_variant PBCA-DE 7 95586794 95586794 single base substitution C T intron_variant PBCA-DE 7 95588274 95588274 single base substitution G T intron_variant PBCA-DE 7 95592917 95592917 single base substitution C T intron_variant PBCA-DE 7 95595038 95595043 deletion of <=200bp AAAAAT - intron_variant PBCA-DE 7 95600237 95600237 single base substitution G T intron_variant PBCA-DE 7 95602871 95602871 single base substitution T G intron_variant PBCA-DE 7 95609620 95609620 deletion of <=200bp T - intron_variant PBCA-DE 7 95615523 95615523 single base substitution C T intron_variant PBCA-DE 7 95617116 95617116 single base substitution T A intron_variant PBCA-DE 7 95625271 95625271 single base substitution G A exon_variant PBCA-DE 7 95625271 95625271 single base substitution G A synonymous_variant L265L 795G>A PBCA-DE 7 95625271 95625271 single base substitution G A synonymous_variant L282L 846G>A PBCA-DE 7 95625271 95625271 single base substitution G A synonymous_variant L285L 855G>A PBCA-DE 7 95625271 95625271 single base substitution G A synonymous_variant L302L 906G>A PBCA-DE 7 95629116 95629116 single base substitution C A intron_variant PBCA-DE 7 95631494 95631494 single base substitution A G intron_variant PBCA-DE 7 95634836 95634836 single base substitution A G intron_variant PBCA-DE 7 95635176 95635176 single base substitution A C intron_variant PBCA-DE 7 95637724 95637724 deletion of <=200bp A - intron_variant PBCA-DE 7 95645475 95645475 single base substitution C T intron_variant PBCA-DE 7 95649593 95649593 single base substitution T G intron_variant PBCA-DE 7 95649720 95649720 single base substitution G T intron_variant PBCA-DE 7 95655666 95655666 insertion of <=200bp - T intron_variant PBCA-DE 7 95659581 95659581 single base substitution A T downstream_gene_variant PBCA-DE 7 95659581 95659581 single base substitution A T intron_variant PBCA-DE 7 95659581 95659581 single base substitution A T upstream_gene_variant PBCA-DE 7 95661875 95661876 deletion of <=200bp TA - downstream_gene_variant PBCA-DE 7 95661875 95661876 deletion of <=200bp TA - intron_variant PBCA-DE 7 95661875 95661876 deletion of <=200bp TA - upstream_gene_variant PBCA-DE 7 95662713 95662713 single base substitution G C intron_variant PBCA-DE 7 95664135 95664135 single base substitution C A intron_variant PBCA-DE 7 95670498 95670498 single base substitution C A intron_variant PBCA-DE 7 95677001 95677001 single base substitution C T intron_variant PBCA-DE 7 95678358 95678358 single base substitution T G intron_variant PBCA-DE 7 95696080 95696080 single base substitution C A intron_variant PBCA-DE 7 95696638 95696638 insertion of <=200bp - T intron_variant PBCA-DE 7 95700996 95700996 single base substitution C A intron_variant PBCA-DE 7 95706552 95706553 deletion of <=200bp TG - intron_variant PBCA-DE 7 95708331 95708331 single base substitution G T intron_variant PBCA-DE 7 95709711 95709711 single base substitution G A missense_variant A543T 1627G>A PBCA-DE 7 95709711 95709711 single base substitution G A missense_variant A560T 1678G>A PBCA-DE 7 95709711 95709711 single base substitution G A missense_variant A563T 1687G>A PBCA-DE 7 95709711 95709711 single base substitution G A missense_variant A580T 1738G>A PBCA-DE 7 95712334 95712334 single base substitution G A intron_variant PBCA-DE 7 95716460 95716460 single base substitution T A intron_variant PBCA-DE 7 95720980 95720980 single base substitution T G intron_variant PBCA-DE 7 95729963 95729964 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 7 95729963 95729964 deletion of <=200bp TG - intron_variant PBCA-DE 7 95733019 95733019 single base substitution G T intron_variant PBCA-DE 7 95734444 95734444 single base substitution T G intron_variant PBCA-DE 7 95736884 95736884 single base substitution C T intron_variant PBCA-DE 7 95742501 95742502 deletion of <=200bp AT - downstream_gene_variant PBCA-DE 7 95743882 95743882 deletion of <=200bp A - downstream_gene_variant PBCA-DE 7 95744267 95744267 single base substitution C T downstream_gene_variant PRAD-CA 7 95406031 95406031 single base substitution T C intron_variant PRAD-CA 7 95417909 95417909 single base substitution C T intron_variant PRAD-CA 7 95464769 95464769 single base substitution A G intron_variant PRAD-CA 7 95464769 95464769 single base substitution A G upstream_gene_variant PRAD-CA 7 95490961 95490961 single base substitution C T intron_variant PRAD-CA 7 95509537 95509537 single base substitution T C intron_variant PRAD-CA 7 95511265 95511265 single base substitution C T intron_variant PRAD-CA 7 95514893 95514893 single base substitution G C intron_variant PRAD-CA 7 95561356 95561356 single base substitution T A intron_variant PRAD-CA 7 95592235 95592235 single base substitution T C intron_variant PRAD-CA 7 95644395 95644395 single base substitution C G intron_variant PRAD-CA 7 95652640 95652640 single base substitution C T intron_variant PRAD-CA 7 95657552 95657552 single base substitution G A exon_variant PRAD-CA 7 95657552 95657552 single base substitution G A synonymous_variant S325S 975G>A PRAD-CA 7 95657552 95657552 single base substitution G A synonymous_variant S342S 1026G>A PRAD-CA 7 95657552 95657552 single base substitution G A synonymous_variant S345S 1035G>A PRAD-CA 7 95657552 95657552 single base substitution G A synonymous_variant S362S 1086G>A PRAD-CA 7 95657552 95657552 single base substitution G A upstream_gene_variant PRAD-CA 7 95659007 95659007 single base substitution C A downstream_gene_variant PRAD-CA 7 95659007 95659007 single base substitution C A intron_variant PRAD-CA 7 95659007 95659007 single base substitution C A upstream_gene_variant PRAD-CA 7 95666203 95666203 single base substitution C G intron_variant PRAD-CA 7 95670043 95670043 single base substitution C T intron_variant PRAD-CA 7 95676367 95676367 single base substitution G T intron_variant PRAD-CA 7 95678695 95678695 single base substitution T C intron_variant PRAD-CA 7 95692445 95692445 single base substitution A G intron_variant PRAD-CA 7 95698576 95698576 single base substitution G T intron_variant PRAD-CA 7 95743821 95743821 single base substitution A C downstream_gene_variant PRAD-UK 7 95408753 95408753 single base substitution C G intron_variant PRAD-UK 7 95410217 95410217 single base substitution C T intron_variant PRAD-UK 7 95430437 95430445 deletion of <=200bp AATGGATCA - intron_variant PRAD-UK 7 95430437 95430445 deletion of <=200bp AATGGATCA - upstream_gene_variant PRAD-UK 7 95454287 95454287 single base substitution G A intron_variant PRAD-UK 7 95461277 95461277 single base substitution T A downstream_gene_variant PRAD-UK 7 95461277 95461277 single base substitution T A intron_variant PRAD-UK 7 95484457 95484459 deletion of <=200bp CTC - intron_variant PRAD-UK 7 95485463 95485463 insertion of <=200bp - T intron_variant PRAD-UK 7 95485472 95485472 insertion of <=200bp - T intron_variant PRAD-UK 7 95507149 95507149 single base substitution A G intron_variant PRAD-UK 7 95510770 95510770 single base substitution C A intron_variant PRAD-UK 7 95521790 95521790 insertion of <=200bp - T intron_variant PRAD-UK 7 95533516 95533516 single base substitution A G intron_variant PRAD-UK 7 95536064 95536064 single base substitution A G intron_variant PRAD-UK 7 95536148 95536148 single base substitution G A intron_variant PRAD-UK 7 95548286 95548286 single base substitution T C intron_variant PRAD-UK 7 95563027 95563027 single base substitution T A intron_variant PRAD-UK 7 95566961 95566961 single base substitution G T intron_variant PRAD-UK 7 95567841 95567841 single base substitution A C intron_variant PRAD-UK 7 95573538 95573538 single base substitution A C intron_variant PRAD-UK 7 95577484 95577484 single base substitution C T intron_variant PRAD-UK 7 95589440 95589440 single base substitution C T intron_variant PRAD-UK 7 95599795 95599795 single base substitution T A intron_variant PRAD-UK 7 95608283 95608283 single base substitution T C intron_variant PRAD-UK 7 95621685 95621685 single base substitution C T intron_variant PRAD-UK 7 95628958 95628958 single base substitution G A intron_variant PRAD-UK 7 95630569 95630569 single base substitution A C intron_variant PRAD-UK 7 95637393 95637393 single base substitution G A intron_variant PRAD-UK 7 95637782 95637782 insertion of <=200bp - T intron_variant PRAD-UK 7 95639925 95639925 insertion of <=200bp - T intron_variant PRAD-UK 7 95646834 95646834 single base substitution C T intron_variant PRAD-UK 7 95646986 95646986 single base substitution G T intron_variant PRAD-UK 7 95668143 95668143 single base substitution A G intron_variant PRAD-UK 7 95678439 95678439 single base substitution G A intron_variant PRAD-UK 7 95679529 95679529 single base substitution T C intron_variant PRAD-UK 7 95683256 95683256 deletion of <=200bp T - intron_variant PRAD-UK 7 95687479 95687479 single base substitution T C downstream_gene_variant PRAD-UK 7 95687479 95687479 single base substitution T C intron_variant PRAD-UK 7 95688666 95688666 insertion of <=200bp - A downstream_gene_variant PRAD-UK 7 95688666 95688666 insertion of <=200bp - A intron_variant PRAD-UK 7 95692866 95692866 single base substitution C G intron_variant PRAD-UK 7 95705707 95705712 deletion of <=200bp ATCCCT - intron_variant PRAD-UK 7 95705902 95705902 single base substitution G A intron_variant PRAD-UK 7 95706424 95706424 single base substitution G A intron_variant PRAD-UK 7 95709123 95709123 single base substitution A T intron_variant PRAD-UK 7 95720139 95720139 single base substitution T A intron_variant PRAD-UK 7 95725394 95725394 single base substitution A G intron_variant PRAD-UK 7 95729052 95729052 single base substitution C G downstream_gene_variant PRAD-UK 7 95729052 95729052 single base substitution C G intron_variant PRAD-US 7 95705442 95705442 single base substitution C A missense_variant P508H 1523C>A PRAD-US 7 95705442 95705442 single base substitution C A missense_variant P525H 1574C>A PRAD-US 7 95705442 95705442 single base substitution C A missense_variant P528H 1583C>A PRAD-US 7 95705442 95705442 single base substitution C A missense_variant P545H 1634C>A PRAD-US 7 95705500 95705500 single base substitution T C synonymous_variant N527N 1581T>C PRAD-US 7 95705500 95705500 single base substitution T C synonymous_variant N544N 1632T>C PRAD-US 7 95705500 95705500 single base substitution T C synonymous_variant N547N 1641T>C PRAD-US 7 95705500 95705500 single base substitution T C synonymous_variant N564N 1692T>C READ-US 7 95439755 95439755 single base substitution C T missense_variant R54C 160C>T READ-US 7 95657511 95657511 single base substitution G A exon_variant READ-US 7 95657511 95657511 single base substitution G A missense_variant A312T 934G>A READ-US 7 95657511 95657511 single base substitution G A missense_variant A329T 985G>A READ-US 7 95657511 95657511 single base substitution G A missense_variant A332T 994G>A READ-US 7 95657511 95657511 single base substitution G A missense_variant A349T 1045G>A READ-US 7 95657511 95657511 single base substitution G A upstream_gene_variant READ-US 7 95665014 95665014 single base substitution C T exon_variant READ-US 7 95665014 95665014 single base substitution C T synonymous_variant F418F 1254C>T READ-US 7 95665014 95665014 single base substitution C T synonymous_variant F435F 1305C>T READ-US 7 95665014 95665014 single base substitution C T synonymous_variant F438F 1314C>T READ-US 7 95665014 95665014 single base substitution C T synonymous_variant F455F 1365C>T READ-US 7 95665046 95665046 single base substitution C T exon_variant READ-US 7 95665046 95665046 single base substitution C T missense_variant T429M 1286C>T READ-US 7 95665046 95665046 single base substitution C T missense_variant T446M 1337C>T READ-US 7 95665046 95665046 single base substitution C T missense_variant T449M 1346C>T READ-US 7 95665046 95665046 single base substitution C T missense_variant T466M 1397C>T RECA-EU 7 95397648 95397648 single base substitution G T upstream_gene_variant RECA-EU 7 95404582 95404582 single base substitution C A intron_variant RECA-EU 7 95405791 95405791 single base substitution C G intron_variant RECA-EU 7 95413065 95413065 single base substitution A T intron_variant RECA-EU 7 95420617 95420617 single base substitution A T intron_variant RECA-EU 7 95421985 95421985 single base substitution A T intron_variant RECA-EU 7 95422425 95422425 single base substitution A G intron_variant RECA-EU 7 95423570 95423570 single base substitution A T intron_variant RECA-EU 7 95427256 95427256 single base substitution A G intron_variant RECA-EU 7 95433590 95433590 single base substitution C A 5_prime_UTR_variant RECA-EU 7 95433590 95433590 single base substitution C A intron_variant RECA-EU 7 95433590 95433590 single base substitution C A upstream_gene_variant RECA-EU 7 95434694 95434694 single base substitution A G intron_variant RECA-EU 7 95435000 95435000 single base substitution G T intron_variant RECA-EU 7 95435387 95435387 single base substitution A T intron_variant RECA-EU 7 95455030 95455030 single base substitution G T intron_variant RECA-EU 7 95457332 95457332 single base substitution T G intron_variant RECA-EU 7 95458786 95458786 single base substitution T A downstream_gene_variant RECA-EU 7 95458786 95458786 single base substitution T A intron_variant RECA-EU 7 95472332 95472332 single base substitution A T intron_variant RECA-EU 7 95483295 95483295 single base substitution G T intron_variant RECA-EU 7 95490372 95490372 single base substitution T C intron_variant RECA-EU 7 95490734 95490734 single base substitution T C intron_variant RECA-EU 7 95495589 95495589 single base substitution A T intron_variant RECA-EU 7 95499628 95499628 single base substitution T A intron_variant RECA-EU 7 95502312 95502312 single base substitution T C intron_variant RECA-EU 7 95504567 95504567 single base substitution C T intron_variant RECA-EU 7 95510314 95510314 single base substitution A G intron_variant RECA-EU 7 95514523 95514523 single base substitution A T intron_variant RECA-EU 7 95515579 95515579 single base substitution C A intron_variant RECA-EU 7 95519407 95519407 single base substitution T C intron_variant RECA-EU 7 95521017 95521017 single base substitution G T intron_variant RECA-EU 7 95524943 95524943 single base substitution G C intron_variant RECA-EU 7 95525093 95525093 single base substitution A T intron_variant RECA-EU 7 95525185 95525185 single base substitution C G intron_variant RECA-EU 7 95526089 95526089 single base substitution A G intron_variant RECA-EU 7 95527943 95527943 single base substitution A G intron_variant RECA-EU 7 95537820 95537820 single base substitution A T intron_variant RECA-EU 7 95540631 95540631 single base substitution G C intron_variant RECA-EU 7 95540632 95540632 single base substitution A T intron_variant RECA-EU 7 95545016 95545016 single base substitution C T intron_variant RECA-EU 7 95546280 95546280 single base substitution C A intron_variant RECA-EU 7 95554212 95554212 single base substitution A G intron_variant RECA-EU 7 95557970 95557970 single base substitution A T intron_variant RECA-EU 7 95560197 95560197 single base substitution C G intron_variant RECA-EU 7 95565296 95565296 single base substitution T C intron_variant RECA-EU 7 95566544 95566544 single base substitution A T intron_variant RECA-EU 7 95578475 95578475 single base substitution C G intron_variant RECA-EU 7 95579119 95579119 single base substitution A G intron_variant RECA-EU 7 95583656 95583656 single base substitution T C intron_variant RECA-EU 7 95584849 95584849 single base substitution C T intron_variant RECA-EU 7 95586185 95586185 single base substitution A T intron_variant RECA-EU 7 95590898 95590898 single base substitution T A intron_variant RECA-EU 7 95599845 95599845 single base substitution G C intron_variant RECA-EU 7 95602513 95602513 single base substitution A T intron_variant RECA-EU 7 95605928 95605928 single base substitution C A intron_variant RECA-EU 7 95611672 95611672 single base substitution A G intron_variant RECA-EU 7 95615606 95615606 single base substitution G A intron_variant RECA-EU 7 95616942 95616942 single base substitution T A intron_variant RECA-EU 7 95618942 95618942 single base substitution A G intron_variant RECA-EU 7 95623571 95623571 single base substitution G T intron_variant RECA-EU 7 95626601 95626601 single base substitution T A intron_variant RECA-EU 7 95628087 95628087 single base substitution A G intron_variant RECA-EU 7 95636607 95636607 single base substitution A T intron_variant RECA-EU 7 95642605 95642605 single base substitution A G intron_variant RECA-EU 7 95645534 95645534 single base substitution T A intron_variant RECA-EU 7 95645853 95645853 single base substitution A T intron_variant RECA-EU 7 95651461 95651461 single base substitution T G intron_variant RECA-EU 7 95654012 95654012 single base substitution A C intron_variant RECA-EU 7 95654761 95654761 single base substitution C A intron_variant RECA-EU 7 95658306 95658306 single base substitution C A downstream_gene_variant RECA-EU 7 95658306 95658306 single base substitution C A intron_variant RECA-EU 7 95658306 95658306 single base substitution C A upstream_gene_variant RECA-EU 7 95660521 95660521 single base substitution C T downstream_gene_variant RECA-EU 7 95660521 95660521 single base substitution C T intron_variant RECA-EU 7 95660521 95660521 single base substitution C T upstream_gene_variant RECA-EU 7 95663336 95663336 single base substitution T A intron_variant RECA-EU 7 95666810 95666810 single base substitution G T intron_variant RECA-EU 7 95686595 95686595 single base substitution C A downstream_gene_variant RECA-EU 7 95686595 95686595 single base substitution C A intron_variant RECA-EU 7 95697609 95697609 single base substitution A T intron_variant RECA-EU 7 95702113 95702113 single base substitution A T intron_variant RECA-EU 7 95709123 95709123 single base substitution A T intron_variant RECA-EU 7 95711402 95711402 single base substitution G A intron_variant RECA-EU 7 95715481 95715481 single base substitution C A intron_variant RECA-EU 7 95716116 95716116 single base substitution C T intron_variant RECA-EU 7 95723955 95723955 single base substitution C A intron_variant RECA-EU 7 95729729 95729729 single base substitution C A downstream_gene_variant RECA-EU 7 95729729 95729729 single base substitution C A intron_variant RECA-EU 7 95742230 95742230 single base substitution C T downstream_gene_variant SKCA-BR 7 95397394 95397394 single base substitution C T upstream_gene_variant SKCA-BR 7 95400384 95400384 single base substitution G A upstream_gene_variant SKCA-BR 7 95400598 95400598 single base substitution C T upstream_gene_variant SKCA-BR 7 95401461 95401461 single base substitution C G upstream_gene_variant SKCA-BR 7 95401673 95401673 single base substitution A G upstream_gene_variant SKCA-BR 7 95403382 95403382 single base substitution A C intron_variant SKCA-BR 7 95404907 95404907 single base substitution C T intron_variant SKCA-BR 7 95407963 95407963 insertion of <=200bp - TTTTA intron_variant SKCA-BR 7 95410237 95410237 single base substitution C T intron_variant SKCA-BR 7 95411972 95411972 single base substitution G A intron_variant SKCA-BR 7 95415103 95415103 single base substitution A G intron_variant SKCA-BR 7 95417039 95417039 single base substitution G A intron_variant SKCA-BR 7 95424613 95424613 insertion of <=200bp - TTTTAACTCTTCCATTTAACTCTTCCA intron_variant SKCA-BR 7 95429372 95429372 single base substitution A T intron_variant SKCA-BR 7 95429372 95429372 single base substitution A T upstream_gene_variant SKCA-BR 7 95430875 95430875 single base substitution G A intron_variant SKCA-BR 7 95430875 95430875 single base substitution G A upstream_gene_variant SKCA-BR 7 95432637 95432638 deletion of <=200bp GT - intron_variant SKCA-BR 7 95432637 95432638 deletion of <=200bp GT - upstream_gene_variant SKCA-BR 7 95434473 95434473 single base substitution C T intron_variant SKCA-BR 7 95435673 95435673 single base substitution T A intron_variant SKCA-BR 7 95435817 95435817 single base substitution T G intron_variant SKCA-BR 7 95439983 95439983 single base substitution G A intron_variant SKCA-BR 7 95440738 95440755 deletion of <=200bp AAATTATCATTTATTTCC - intron_variant SKCA-BR 7 95442532 95442532 single base substitution G A intron_variant SKCA-BR 7 95442532 95442532 single base substitution G A stop_gained W83* 248G>A SKCA-BR 7 95442533 95442533 single base substitution G A intron_variant SKCA-BR 7 95442533 95442533 single base substitution G A stop_gained W83* 249G>A SKCA-BR 7 95443619 95443619 single base substitution T C downstream_gene_variant SKCA-BR 7 95443619 95443619 single base substitution T C intron_variant SKCA-BR 7 95447298 95447298 single base substitution C T downstream_gene_variant SKCA-BR 7 95447298 95447298 single base substitution C T intron_variant SKCA-BR 7 95447598 95447598 single base substitution C T intron_variant SKCA-BR 7 95447846 95447846 single base substitution G A intron_variant SKCA-BR 7 95447846 95447846 single base substitution G A stop_retained_variant *117* 350G>A SKCA-BR 7 95449169 95449169 single base substitution G A downstream_gene_variant SKCA-BR 7 95449169 95449169 single base substitution G A intron_variant SKCA-BR 7 95454038 95454038 single base substitution G A intron_variant SKCA-BR 7 95458396 95458396 single base substitution C T downstream_gene_variant SKCA-BR 7 95458396 95458396 single base substitution C T intron_variant SKCA-BR 7 95460574 95460574 single base substitution C T downstream_gene_variant SKCA-BR 7 95460574 95460574 single base substitution C T intron_variant SKCA-BR 7 95461075 95461075 single base substitution C T downstream_gene_variant SKCA-BR 7 95461075 95461075 single base substitution C T intron_variant SKCA-BR 7 95462203 95462203 single base substitution C T downstream_gene_variant SKCA-BR 7 95462203 95462203 single base substitution C T intron_variant SKCA-BR 7 95462203 95462203 single base substitution C T upstream_gene_variant SKCA-BR 7 95463678 95463678 single base substitution G C intron_variant SKCA-BR 7 95463678 95463678 single base substitution G C upstream_gene_variant SKCA-BR 7 95463867 95463867 single base substitution C T intron_variant SKCA-BR 7 95463867 95463867 single base substitution C T upstream_gene_variant SKCA-BR 7 95463871 95463871 single base substitution C T intron_variant SKCA-BR 7 95463871 95463871 single base substitution C T upstream_gene_variant SKCA-BR 7 95464016 95464016 single base substitution G A intron_variant SKCA-BR 7 95464016 95464016 single base substitution G A upstream_gene_variant SKCA-BR 7 95464281 95464281 single base substitution C T intron_variant SKCA-BR 7 95464281 95464281 single base substitution C T upstream_gene_variant SKCA-BR 7 95465889 95465889 single base substitution C T intron_variant SKCA-BR 7 95465889 95465889 single base substitution C T upstream_gene_variant SKCA-BR 7 95465896 95465896 single base substitution C T intron_variant SKCA-BR 7 95465896 95465896 single base substitution C T upstream_gene_variant SKCA-BR 7 95466395 95466395 single base substitution C T intron_variant SKCA-BR 7 95466395 95466395 single base substitution C T upstream_gene_variant SKCA-BR 7 95467412 95467412 single base substitution C T intron_variant SKCA-BR 7 95470084 95470084 single base substitution C T intron_variant SKCA-BR 7 95472007 95472007 single base substitution G A intron_variant SKCA-BR 7 95474252 95474252 single base substitution T A intron_variant SKCA-BR 7 95477519 95477520 deletion of <=200bp TG - intron_variant SKCA-BR 7 95480015 95480015 single base substitution A T intron_variant SKCA-BR 7 95481585 95481585 single base substitution G A intron_variant SKCA-BR 7 95485434 95485434 single base substitution T A intron_variant SKCA-BR 7 95485962 95485962 single base substitution G A intron_variant SKCA-BR 7 95487000 95487000 single base substitution C T intron_variant SKCA-BR 7 95492671 95492671 single base substitution A G intron_variant SKCA-BR 7 95494100 95494100 single base substitution T C intron_variant SKCA-BR 7 95496920 95496920 single base substitution G T intron_variant SKCA-BR 7 95499790 95499790 single base substitution T G intron_variant SKCA-BR 7 95499834 95499834 single base substitution T A intron_variant SKCA-BR 7 95504283 95504283 single base substitution C T intron_variant SKCA-BR 7 95506458 95506458 single base substitution C T intron_variant SKCA-BR 7 95508277 95508277 single base substitution C A intron_variant SKCA-BR 7 95509719 95509719 single base substitution A G intron_variant SKCA-BR 7 95511286 95511286 single base substitution C T intron_variant SKCA-BR 7 95511548 95511548 single base substitution T A intron_variant SKCA-BR 7 95512123 95512123 insertion of <=200bp - TTCG intron_variant SKCA-BR 7 95513202 95513202 single base substitution A C intron_variant SKCA-BR 7 95514103 95514103 single base substitution G A intron_variant SKCA-BR 7 95516879 95516879 single base substitution C T intron_variant SKCA-BR 7 95517278 95517278 single base substitution G A intron_variant SKCA-BR 7 95521281 95521282 deletion of <=200bp CT - intron_variant SKCA-BR 7 95521343 95521343 single base substitution C G intron_variant SKCA-BR 7 95522656 95522656 single base substitution C T intron_variant SKCA-BR 7 95524328 95524328 single base substitution A G intron_variant SKCA-BR 7 95525508 95525508 single base substitution C T intron_variant SKCA-BR 7 95526834 95526834 single base substitution T G intron_variant SKCA-BR 7 95527794 95527794 single base substitution G A intron_variant SKCA-BR 7 95528461 95528461 single base substitution C T intron_variant SKCA-BR 7 95528462 95528462 single base substitution C G intron_variant SKCA-BR 7 95531011 95531011 single base substitution T C intron_variant SKCA-BR 7 95534983 95534983 single base substitution G A intron_variant SKCA-BR 7 95535266 95535266 single base substitution A G intron_variant SKCA-BR 7 95535603 95535603 single base substitution C T intron_variant SKCA-BR 7 95536792 95536792 single base substitution T C intron_variant SKCA-BR 7 95537928 95537928 single base substitution C G intron_variant SKCA-BR 7 95538295 95538295 single base substitution G A intron_variant SKCA-BR 7 95540631 95540631 single base substitution G A intron_variant SKCA-BR 7 95542231 95542231 single base substitution C T intron_variant SKCA-BR 7 95543963 95543963 single base substitution A C intron_variant SKCA-BR 7 95547447 95547447 single base substitution C T intron_variant SKCA-BR 7 95549049 95549049 single base substitution G A intron_variant SKCA-BR 7 95551894 95551894 single base substitution C T intron_variant SKCA-BR 7 95553257 95553257 single base substitution G A intron_variant SKCA-BR 7 95555530 95555530 single base substitution C T intron_variant SKCA-BR 7 95555884 95555884 single base substitution C T intron_variant SKCA-BR 7 95556294 95556294 single base substitution C T intron_variant SKCA-BR 7 95562191 95562191 insertion of <=200bp - AT intron_variant SKCA-BR 7 95563473 95563473 single base substitution G A intron_variant SKCA-BR 7 95564447 95564447 single base substitution C T intron_variant SKCA-BR 7 95566268 95566268 insertion of <=200bp - TCACA intron_variant SKCA-BR 7 95566268 95566268 insertion of <=200bp - TCA intron_variant SKCA-BR 7 95566268 95566268 insertion of <=200bp - TCTCACACACACACACA intron_variant SKCA-BR 7 95566270 95566270 single base substitution A T intron_variant SKCA-BR 7 95566787 95566787 single base substitution C T intron_variant SKCA-BR 7 95567622 95567622 single base substitution G A intron_variant SKCA-BR 7 95567951 95567951 single base substitution G T intron_variant SKCA-BR 7 95570335 95570335 single base substitution A G intron_variant SKCA-BR 7 95570431 95570431 single base substitution C T intron_variant SKCA-BR 7 95570829 95570829 single base substitution T C intron_variant SKCA-BR 7 95571931 95571931 single base substitution C T intron_variant SKCA-BR 7 95572410 95572410 single base substitution T C intron_variant SKCA-BR 7 95572773 95572773 single base substitution T C intron_variant SKCA-BR 7 95572916 95572916 single base substitution T C intron_variant SKCA-BR 7 95572933 95572933 single base substitution T C intron_variant SKCA-BR 7 95573835 95573835 single base substitution G A intron_variant SKCA-BR 7 95577866 95577866 single base substitution T C intron_variant SKCA-BR 7 95581840 95581840 single base substitution A G intron_variant SKCA-BR 7 95584042 95584042 single base substitution G A intron_variant SKCA-BR 7 95584043 95584043 single base substitution G A intron_variant SKCA-BR 7 95585649 95585649 single base substitution C T intron_variant SKCA-BR 7 95588102 95588102 single base substitution C T intron_variant SKCA-BR 7 95590909 95590909 single base substitution C T intron_variant SKCA-BR 7 95593062 95593062 single base substitution C A intron_variant SKCA-BR 7 95596347 95596347 single base substitution G A intron_variant SKCA-BR 7 95596422 95596422 single base substitution A G intron_variant SKCA-BR 7 95599068 95599068 single base substitution C T intron_variant SKCA-BR 7 95600725 95600725 single base substitution C T intron_variant SKCA-BR 7 95601853 95601853 single base substitution C T intron_variant SKCA-BR 7 95602844 95602844 insertion of <=200bp - TA intron_variant SKCA-BR 7 95603713 95603713 single base substitution C T intron_variant SKCA-BR 7 95604408 95604408 single base substitution C T intron_variant SKCA-BR 7 95606790 95606790 single base substitution G A intron_variant SKCA-BR 7 95609889 95609889 single base substitution G A intron_variant SKCA-BR 7 95617255 95617255 single base substitution G A intron_variant SKCA-BR 7 95617868 95617868 single base substitution G A intron_variant SKCA-BR 7 95619882 95619882 single base substitution A G intron_variant SKCA-BR 7 95620340 95620345 deletion of <=200bp TTAAAA - intron_variant SKCA-BR 7 95624697 95624697 single base substitution C T intron_variant SKCA-BR 7 95626894 95626894 insertion of <=200bp - CGT intron_variant SKCA-BR 7 95627567 95627567 single base substitution C T intron_variant SKCA-BR 7 95627771 95627771 single base substitution G A intron_variant SKCA-BR 7 95631627 95631627 single base substitution C T intron_variant SKCA-BR 7 95635500 95635500 single base substitution G A intron_variant SKCA-BR 7 95639945 95639945 single base substitution G A intron_variant SKCA-BR 7 95641628 95641628 single base substitution C T intron_variant SKCA-BR 7 95645961 95645961 single base substitution C A intron_variant SKCA-BR 7 95646666 95646666 single base substitution G A intron_variant SKCA-BR 7 95647390 95647390 single base substitution C T intron_variant SKCA-BR 7 95653890 95653890 single base substitution T C intron_variant SKCA-BR 7 95655152 95655152 insertion of <=200bp - CG intron_variant SKCA-BR 7 95658163 95658163 single base substitution C T downstream_gene_variant SKCA-BR 7 95658163 95658163 single base substitution C T intron_variant SKCA-BR 7 95658163 95658163 single base substitution C T upstream_gene_variant SKCA-BR 7 95661167 95661167 single base substitution C T downstream_gene_variant SKCA-BR 7 95661167 95661167 single base substitution C T intron_variant SKCA-BR 7 95661167 95661167 single base substitution C T upstream_gene_variant SKCA-BR 7 95662923 95662923 single base substitution A T intron_variant SKCA-BR 7 95663823 95663823 single base substitution G A intron_variant SKCA-BR 7 95665894 95665894 single base substitution C T intron_variant SKCA-BR 7 95668955 95668955 single base substitution C T intron_variant SKCA-BR 7 95669660 95669660 single base substitution G T intron_variant SKCA-BR 7 95672400 95672400 single base substitution G A intron_variant SKCA-BR 7 95672632 95672632 single base substitution C T intron_variant SKCA-BR 7 95673217 95673217 single base substitution T C intron_variant SKCA-BR 7 95676199 95676199 single base substitution G A intron_variant SKCA-BR 7 95676739 95676739 single base substitution C T intron_variant SKCA-BR 7 95677113 95677113 single base substitution A T intron_variant SKCA-BR 7 95678569 95678570 deletion of <=200bp CA - intron_variant SKCA-BR 7 95680052 95680052 single base substitution C T intron_variant SKCA-BR 7 95680468 95680468 single base substitution A T intron_variant SKCA-BR 7 95681914 95681914 single base substitution G A intron_variant SKCA-BR 7 95682542 95682542 single base substitution G A intron_variant SKCA-BR 7 95682901 95682901 single base substitution G A intron_variant SKCA-BR 7 95683696 95683696 single base substitution C T intron_variant SKCA-BR 7 95688112 95688112 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 7 95688112 95688112 insertion of <=200bp - AT intron_variant SKCA-BR 7 95691024 95691024 insertion of <=200bp - TCACA intron_variant SKCA-BR 7 95692419 95692419 insertion of <=200bp - ATG intron_variant SKCA-BR 7 95692445 95692445 single base substitution A G intron_variant SKCA-BR 7 95696383 95696383 single base substitution C A intron_variant SKCA-BR 7 95696399 95696399 single base substitution G T intron_variant SKCA-BR 7 95698332 95698332 single base substitution C T intron_variant SKCA-BR 7 95699501 95699501 single base substitution C T intron_variant SKCA-BR 7 95703472 95703472 single base substitution C T intron_variant SKCA-BR 7 95704967 95704967 single base substitution A G intron_variant SKCA-BR 7 95707241 95707241 single base substitution C T intron_variant SKCA-BR 7 95708250 95708250 single base substitution C T intron_variant SKCA-BR 7 95709145 95709145 single base substitution C T intron_variant SKCA-BR 7 95710390 95710390 single base substitution G A intron_variant SKCA-BR 7 95710391 95710391 insertion of <=200bp - AAAAAAAAAAG intron_variant SKCA-BR 7 95715806 95715806 single base substitution C T intron_variant SKCA-BR 7 95717093 95717093 single base substitution C T intron_variant SKCA-BR 7 95724904 95724904 single base substitution A T intron_variant SKCA-BR 7 95731228 95731228 single base substitution G A downstream_gene_variant SKCA-BR 7 95731228 95731228 single base substitution G A intron_variant SKCA-BR 7 95731334 95731334 single base substitution C T downstream_gene_variant SKCA-BR 7 95731334 95731334 single base substitution C T intron_variant SKCA-BR 7 95731741 95731741 single base substitution C T downstream_gene_variant SKCA-BR 7 95731741 95731741 single base substitution C T intron_variant SKCA-BR 7 95733137 95733137 single base substitution G A intron_variant SKCA-BR 7 95735557 95735557 single base substitution C T intron_variant SKCA-BR 7 95736345 95736345 insertion of <=200bp - CT intron_variant SKCA-BR 7 95736402 95736402 single base substitution G A intron_variant SKCA-BR 7 95737388 95737388 single base substitution G C intron_variant SKCA-BR 7 95737858 95737858 single base substitution G T intron_variant SKCA-BR 7 95738069 95738069 single base substitution G A intron_variant SKCA-BR 7 95738172 95738172 insertion of <=200bp - CAA intron_variant SKCA-BR 7 95739170 95739170 single base substitution G C intron_variant SKCA-BR 7 95739962 95739962 single base substitution C T downstream_gene_variant SKCA-BR 7 95740333 95740333 single base substitution G C downstream_gene_variant SKCA-BR 7 95741336 95741336 single base substitution G C downstream_gene_variant SKCA-BR 7 95741746 95741746 single base substitution G C downstream_gene_variant SKCA-BR 7 95742007 95742007 single base substitution G C downstream_gene_variant SKCA-BR 7 95742551 95742552 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 7 95742575 95742575 single base substitution G A downstream_gene_variant SKCA-BR 7 95743657 95743657 single base substitution C T downstream_gene_variant SKCM-US 7 95442563 95442563 single base substitution A T synonymous_variant P76P 228A>T SKCM-US 7 95442563 95442563 single base substitution A T synonymous_variant P93P 279A>T SKCM-US 7 95442568 95442568 single base substitution C T missense_variant P78L 233C>T SKCM-US 7 95442568 95442568 single base substitution C T missense_variant P95L 284C>T SKCM-US 7 95442576 95442576 single base substitution C T missense_variant P81S 241C>T SKCM-US 7 95442576 95442576 single base substitution C T missense_variant P98S 292C>T SKCM-US 7 95499310 95499310 single base substitution G A missense_variant E144K 430G>A SKCM-US 7 95499310 95499310 single base substitution G A missense_variant E161K 481G>A SKCM-US 7 95499310 95499310 single base substitution G A missense_variant E164K 490G>A SKCM-US 7 95499310 95499310 single base substitution G A missense_variant E181K 541G>A SKCM-US 7 95499310 95499310 single base substitution G A splice_region_variant SKCM-US 7 95606832 95606832 single base substitution G A exon_variant SKCM-US 7 95606832 95606832 single base substitution G A missense_variant E147K 439G>A SKCM-US 7 95606832 95606832 single base substitution G A missense_variant E164K 490G>A SKCM-US 7 95606832 95606832 single base substitution G A missense_variant E167K 499G>A SKCM-US 7 95606832 95606832 single base substitution G A missense_variant E184K 550G>A SKCM-US 7 95606880 95606880 single base substitution G A exon_variant SKCM-US 7 95606880 95606880 single base substitution G A missense_variant E163K 487G>A SKCM-US 7 95606880 95606880 single base substitution G A missense_variant E180K 538G>A SKCM-US 7 95606880 95606880 single base substitution G A missense_variant E183K 547G>A SKCM-US 7 95606880 95606880 single base substitution G A missense_variant E200K 598G>A SKCM-US 7 95606905 95606905 single base substitution T G exon_variant SKCM-US 7 95606905 95606905 single base substitution T G missense_variant V171G 512T>G SKCM-US 7 95606905 95606905 single base substitution T G missense_variant V188G 563T>G SKCM-US 7 95606905 95606905 single base substitution T G missense_variant V191G 572T>G SKCM-US 7 95606905 95606905 single base substitution T G missense_variant V208G 623T>G SKCM-US 7 95614188 95614188 single base substitution C T exon_variant SKCM-US 7 95614188 95614188 single base substitution C T synonymous_variant L194L 582C>T SKCM-US 7 95614188 95614188 single base substitution C T synonymous_variant L211L 633C>T SKCM-US 7 95614188 95614188 single base substitution C T synonymous_variant L214L 642C>T SKCM-US 7 95614188 95614188 single base substitution C T synonymous_variant L231L 693C>T SKCM-US 7 95616402 95616402 single base substitution C T exon_variant SKCM-US 7 95616402 95616402 single base substitution C T missense_variant R240C 718C>T SKCM-US 7 95616402 95616402 single base substitution C T missense_variant R257C 769C>T SKCM-US 7 95616402 95616402 single base substitution C T missense_variant R260C 778C>T SKCM-US 7 95616402 95616402 single base substitution C T missense_variant R277C 829C>T SKCM-US 7 95664990 95664990 single base substitution C T exon_variant SKCM-US 7 95664990 95664990 single base substitution C T synonymous_variant F410F 1230C>T SKCM-US 7 95664990 95664990 single base substitution C T synonymous_variant F427F 1281C>T SKCM-US 7 95664990 95664990 single base substitution C T synonymous_variant F430F 1290C>T SKCM-US 7 95664990 95664990 single base substitution C T synonymous_variant F447F 1341C>T SKCM-US 7 95705405 95705405 single base substitution G A missense_variant D496N 1486G>A SKCM-US 7 95705405 95705405 single base substitution G A missense_variant D513N 1537G>A SKCM-US 7 95705405 95705405 single base substitution G A missense_variant D516N 1546G>A SKCM-US 7 95705405 95705405 single base substitution G A missense_variant D533N 1597G>A SKCM-US 7 95709713 95709713 single base substitution C T synonymous_variant A543A 1629C>T SKCM-US 7 95709713 95709713 single base substitution C T synonymous_variant A560A 1680C>T SKCM-US 7 95709713 95709713 single base substitution C T synonymous_variant A563A 1689C>T SKCM-US 7 95709713 95709713 single base substitution C T synonymous_variant A580A 1740C>T SKCM-US 7 95709754 95709754 single base substitution C T missense_variant A557V 1670C>T SKCM-US 7 95709754 95709754 single base substitution C T missense_variant A574V 1721C>T SKCM-US 7 95709754 95709754 single base substitution C T missense_variant A577V 1730C>T SKCM-US 7 95709754 95709754 single base substitution C T missense_variant A594V 1781C>T SKCM-US 7 95726821 95726821 single base substitution G A intron_variant SKCM-US 7 95726821 95726821 single base substitution G A stop_gained W581* 1743G>A SKCM-US 7 95726821 95726821 single base substitution G A stop_gained W598* 1794G>A SKCM-US 7 95726821 95726821 single base substitution G A stop_gained W601* 1803G>A SKCM-US 7 95726821 95726821 single base substitution G A stop_gained W618* 1854G>A SKCM-US 7 95726867 95726867 single base substitution G A intron_variant SKCM-US 7 95726867 95726867 single base substitution G A missense_variant D597N 1789G>A SKCM-US 7 95726867 95726867 single base substitution G A missense_variant D614N 1840G>A SKCM-US 7 95726867 95726867 single base substitution G A missense_variant D617N 1849G>A SKCM-US 7 95726867 95726867 single base substitution G A missense_variant D634N 1900G>A STAD-US 7 95442521 95442521 deletion of <=200bp T - frameshift_variant H79 STAD-US 7 95442521 95442521 deletion of <=200bp T - intron_variant STAD-US 7 95499216 95499216 single base substitution C A exon_variant STAD-US 7 95499216 95499216 single base substitution C A synonymous_variant G112G 336C>A STAD-US 7 95499216 95499216 single base substitution C A synonymous_variant G129G 387C>A STAD-US 7 95499216 95499216 single base substitution C A synonymous_variant G132G 396C>A STAD-US 7 95499216 95499216 single base substitution C A synonymous_variant G149G 447C>A STAD-US 7 95499296 95499296 single base substitution C T exon_variant STAD-US 7 95499296 95499296 single base substitution C T missense_variant T139M 416C>T STAD-US 7 95499296 95499296 single base substitution C T missense_variant T156M 467C>T STAD-US 7 95499296 95499296 single base substitution C T missense_variant T159M 476C>T STAD-US 7 95499296 95499296 single base substitution C T missense_variant T176M 527C>T STAD-US 7 95614280 95614280 deletion of <=200bp A - exon_variant STAD-US 7 95614280 95614280 deletion of <=200bp A - frameshift_variant E225 STAD-US 7 95614280 95614280 deletion of <=200bp A - frameshift_variant E242 STAD-US 7 95614280 95614280 deletion of <=200bp A - frameshift_variant E245 STAD-US 7 95614280 95614280 deletion of <=200bp A - frameshift_variant E262 STAD-US 7 95661985 95661985 single base substitution G A downstream_gene_variant STAD-US 7 95661985 95661985 single base substitution G A exon_variant STAD-US 7 95661985 95661985 single base substitution G A missense_variant V355M 1063G>A STAD-US 7 95661985 95661985 single base substitution G A missense_variant V372M 1114G>A STAD-US 7 95661985 95661985 single base substitution G A missense_variant V375M 1123G>A STAD-US 7 95661985 95661985 single base substitution G A missense_variant V392M 1174G>A STAD-US 7 95664938 95664938 single base substitution T C exon_variant STAD-US 7 95664938 95664938 single base substitution T C missense_variant M393T 1178T>C STAD-US 7 95664938 95664938 single base substitution T C missense_variant M410T 1229T>C STAD-US 7 95664938 95664938 single base substitution T C missense_variant M413T 1238T>C STAD-US 7 95664938 95664938 single base substitution T C missense_variant M430T 1289T>C STAD-US 7 95665019 95665019 single base substitution T C exon_variant STAD-US 7 95665019 95665019 single base substitution T C missense_variant V420A 1259T>C STAD-US 7 95665019 95665019 single base substitution T C missense_variant V437A 1310T>C STAD-US 7 95665019 95665019 single base substitution T C missense_variant V440A 1319T>C STAD-US 7 95665019 95665019 single base substitution T C missense_variant V457A 1370T>C STAD-US 7 95665061 95665061 single base substitution G T exon_variant STAD-US 7 95665061 95665061 single base substitution G T missense_variant G434V 1301G>T STAD-US 7 95665061 95665061 single base substitution G T missense_variant G451V 1352G>T STAD-US 7 95665061 95665061 single base substitution G T missense_variant G454V 1361G>T STAD-US 7 95665061 95665061 single base substitution G T missense_variant G471V 1412G>T STAD-US 7 95709704 95709704 single base substitution G A synonymous_variant G540G 1620G>A STAD-US 7 95709704 95709704 single base substitution G A synonymous_variant G557G 1671G>A STAD-US 7 95709704 95709704 single base substitution G A synonymous_variant G560G 1680G>A STAD-US 7 95709704 95709704 single base substitution G A synonymous_variant G577G 1731G>A STAD-US 7 95709775 95709775 single base substitution G A missense_variant R564H 1691G>A STAD-US 7 95709775 95709775 single base substitution G A missense_variant R581H 1742G>A STAD-US 7 95709775 95709775 single base substitution G A missense_variant R584H 1751G>A STAD-US 7 95709775 95709775 single base substitution G A missense_variant R601H 1802G>A STAD-US 7 95726809 95726809 single base substitution C T intron_variant STAD-US 7 95726809 95726809 single base substitution C T synonymous_variant H577H 1731C>T STAD-US 7 95726809 95726809 single base substitution C T synonymous_variant H594H 1782C>T STAD-US 7 95726809 95726809 single base substitution C T synonymous_variant H597H 1791C>T STAD-US 7 95726809 95726809 single base substitution C T synonymous_variant H614H 1842C>T THCA-SA 7 95727533 95727533 single base substitution T A 3_prime_UTR_variant THCA-SA 7 95727533 95727533 single base substitution T A downstream_gene_variant THCA-SA 7 95727533 95727533 single base substitution T A intron_variant THCA-US 7 95442507 95442507 single base substitution G A intron_variant THCA-US 7 95442507 95442507 single base substitution G A splice_acceptor_variant THCA-US 7 95664979 95664979 single base substitution G A exon_variant THCA-US 7 95664979 95664979 single base substitution G A missense_variant G407R 1219G>A THCA-US 7 95664979 95664979 single base substitution G A missense_variant G424R 1270G>A THCA-US 7 95664979 95664979 single base substitution G A missense_variant G427R 1279G>A THCA-US 7 95664979 95664979 single base substitution G A missense_variant G444R 1330G>A UCEC-US 7 95434099 95434099 deletion of <=200bp C - frameshift_variant Q20 UCEC-US 7 95442514 95442514 single base substitution C T intron_variant UCEC-US 7 95442514 95442514 single base substitution C T missense_variant P77L 230C>T UCEC-US 7 95457425 95457425 single base substitution T G intron_variant UCEC-US 7 95457425 95457425 single base substitution T G missense_variant L124R 371T>G UCEC-US 7 95457425 95457425 single base substitution T G missense_variant L141R 422T>G UCEC-US 7 95499225 95499225 single base substitution G T exon_variant UCEC-US 7 95499225 95499225 single base substitution G T missense_variant K115N 345G>T UCEC-US 7 95499225 95499225 single base substitution G T missense_variant K132N 396G>T UCEC-US 7 95499225 95499225 single base substitution G T missense_variant K135N 405G>T UCEC-US 7 95499225 95499225 single base substitution G T missense_variant K152N 456G>T UCEC-US 7 95606854 95606854 single base substitution C A exon_variant UCEC-US 7 95606854 95606854 single base substitution C A missense_variant S154Y 461C>A UCEC-US 7 95606854 95606854 single base substitution C A missense_variant S171Y 512C>A UCEC-US 7 95606854 95606854 single base substitution C A missense_variant S174Y 521C>A UCEC-US 7 95606854 95606854 single base substitution C A missense_variant S191Y 572C>A UCEC-US 7 95614127 95614127 single base substitution C T missense_variant A174V 521C>T UCEC-US 7 95614127 95614127 single base substitution C T missense_variant A191V 572C>T UCEC-US 7 95614127 95614127 single base substitution C T missense_variant A194V 581C>T UCEC-US 7 95614127 95614127 single base substitution C T missense_variant A211V 632C>T UCEC-US 7 95614127 95614127 single base substitution C T splice_region_variant UCEC-US 7 95614144 95614144 single base substitution A G exon_variant UCEC-US 7 95614144 95614144 single base substitution A G missense_variant T180A 538A>G UCEC-US 7 95614144 95614144 single base substitution A G missense_variant T197A 589A>G UCEC-US 7 95614144 95614144 single base substitution A G missense_variant T200A 598A>G UCEC-US 7 95614144 95614144 single base substitution A G missense_variant T217A 649A>G UCEC-US 7 95614248 95614248 single base substitution C A exon_variant UCEC-US 7 95614248 95614248 single base substitution C A synonymous_variant I214I 642C>A UCEC-US 7 95614248 95614248 single base substitution C A synonymous_variant I231I 693C>A UCEC-US 7 95614248 95614248 single base substitution C A synonymous_variant I234I 702C>A UCEC-US 7 95614248 95614248 single base substitution C A synonymous_variant I251I 753C>A UCEC-US 7 95662061 95662061 single base substitution C T downstream_gene_variant UCEC-US 7 95662061 95662061 single base substitution C T exon_variant UCEC-US 7 95662061 95662061 single base substitution C T missense_variant S380F 1139C>T UCEC-US 7 95662061 95662061 single base substitution C T missense_variant S397F 1190C>T UCEC-US 7 95662061 95662061 single base substitution C T missense_variant S400F 1199C>T UCEC-US 7 95662061 95662061 single base substitution C T missense_variant S417F 1250C>T UCEC-US 7 95726852 95726852 single base substitution C T intron_variant UCEC-US 7 95726852 95726852 single base substitution C T missense_variant R592C 1774C>T UCEC-US 7 95726852 95726852 single base substitution C T missense_variant R609C 1825C>T UCEC-US 7 95726852 95726852 single base substitution C T missense_variant R612C 1834C>T UCEC-US 7 95726852 95726852 single base substitution C T missense_variant R629C 1885C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SNUH_G47_S1 COSM3982294 c.1702-9C>A p.? Unknown 7:96080354-96080354 + SS6003137 COSM3665280 c.166C>T p.R56* Substitution - Nonsense 7:95810449-95810449 + Pat_44_B COSM5873432 c.769G>A p.G257S Substitution - Missense 7:95984952-95984952 + T3246 COSM4679803 c.494C>T p.S165F Substitution - Missense 7:95869951-95869951 + LUAD-RT-S01777 COSM382490 c.136G>T p.V46F Substitution - Missense 7:95810419-95810419 + T2197 COSM4679808 c.1562_1564delACA p.N522delN Deletion - In frame 7:96076058-96076060 + TCGA-DI-A0WH-01 COSM1093378 c.989A>G p.K330R Substitution - Missense 7:95996042-95996042 + BCM257T COSM4951536 c.39C>T p.R13R Substitution - coding silent 7:95804768-95804768 + TCGA-EW-A423-01 COSM2150542 c.448G>A p.V150M Substitution - Missense 7:95869905-95869905 + HT115 COSM2865621 c.585G>T p.Q195H Substitution - Missense 7:95977555-95977555 + PT09_1 COSM5894863 c.895-8C>T p.? Unknown 7:95995940-95995940 + CSCC-27-T COSM4450282 c.631+1G>A p.? Unknown 7:95977602-95977602 + LUAD-LIP77 COSM342596 c.1376G>T p.S459I Substitution - Missense 7:96035713-96035713 + YUFERY COSM5408332 c.1793C>T p.S598L Substitution - Missense 7:96080454-96080454 + TCGA-EI-6917-01 COSM2865653 c.1365C>T p.F455F Substitution - coding silent 7:96035702-96035702 + ESO-H01 COSM1250834 c.1005C>T p.Y335Y Substitution - coding silent 7:95996058-95996058 + STC263 COSM5062686 c.1663G>T p.G555W Substitution - Missense 7:96076159-96076159 + DM102 COSM2149518 c.1120C>T p.R374* Substitution - Nonsense 7:96028274-96028274 + 16461 COSM5615909 c.55G>T p.A19S Substitution - Missense 7:95804784-95804784 + TCGA-CS-6186-01 COSM169788 c.1166C>T p.T389M Substitution - Missense 7:96028320-96028320 + TCGA-13-0760-01 COSM74468 c.343G>A p.G115S Substitution - Missense 7:95813315-95813315 + YUKSI COSM5408330 c.1738G>T p.A580S Substitution - Missense 7:96080399-96080399 + TCGA-BF-A3DL-01 COSM4904824 c.1900G>A p.D634N Substitution - Missense 7:96097555-96097555 + DM2 COSM2149518 c.1120C>T p.R374* Substitution - Nonsense 7:96028274-96028274 + TCGA-D3-A3MR-06 COSM3642601 c.1854G>A p.W618* Substitution - Nonsense 7:96097509-96097509 + TCGA-FW-A3R5-06 COSM3924298 c.550G>A p.E184K Substitution - Missense 7:95977520-95977520 + TCGA-GF-A6C9-06 COSM4900243 c.623T>G p.V208G Substitution - Missense 7:95977593-95977593 + PT48 COSM5932025 c.887C>T p.S296F Substitution - Missense 7:95987148-95987148 + HCA7 COSM4631243 c.813C>A p.A271A Substitution - coding silent 7:95987074-95987074 + HCC080T COSM5810624 c.868G>T p.V290F Substitution - Missense 7:95987129-95987129 + PT09_2 COSM5894863 c.895-8C>T p.? Unknown 7:95995940-95995940 + PT37 COSM5919290 c.1453G>A p.G485R Substitution - Missense 7:96039314-96039314 + CSCC-52-T COSM4503365 c.638C>T p.P213L Substitution - Missense 7:95984821-95984821 + YUKLAB COSM1698950 c.1493C>T p.P498L Substitution - Missense 7:96039354-96039354 + ITNET_0813_T COSM748411 c.770G>T p.G257V Substitution - Missense 7:95984953-95984953 + TCGA-EE-A3AA-06 COSM3642597 c.1341C>T p.F447F Substitution - coding silent 7:96035678-96035678 + 585208 COSM325218 c.1139G>C p.R380P Substitution - Missense 7:96028293-96028293 + SNUH_G76_S1 COSM4418247 c.465A>G p.Q155Q Substitution - coding silent 7:95869922-95869922 + Pat_07_A COSM5873438 c.1819G>A p.V607I Substitution - Missense 7:96080480-96080480 + TCGA-B9-5155-01 COSM3995764 c.1523C>T p.S508L Substitution - Missense 7:96039384-96039384 + Sample_1 COSM198763 c.230C>T p.P77L Substitution - Missense 7:95813202-95813202 + CHC1725T COSM2150542 c.448G>A p.V150M Substitution - Missense 7:95869905-95869905 + TCGA-F1-6874-01 COSM3883573 c.1412G>T p.G471V Substitution - Missense 7:96035749-96035749 + Pat_16_A COSM5873430 c.754delT p.F253fs*8 Deletion - Frameshift 7:95984937-95984937 + 61 COSM5738020 c.283C>A p.P95T Substitution - Missense 7:95813255-95813255 + 61 COSM5738025 c.805G>A p.A269T Substitution - Missense 7:95987066-95987066 + 2217537 COSM4421562 c.533A>T p.Q178L Substitution - Missense 7:95869990-95869990 + TCGA-26-6174-01 COSM3412519 c.1366G>A p.V456M Substitution - Missense 7:96035703-96035703 + TCGA-BG-A0M0-01 COSM1093376 c.649A>G p.T217A Substitution - Missense 7:95984832-95984832 + PD8612a COSM5785710 c.747C>T p.S249S Substitution - coding silent 7:95984930-95984930 + CHC736T COSM4957587 c.696C>T p.I232I Substitution - coding silent 7:95984879-95984879 + YUROG COSM4654294 c.1868G>T p.R623M Substitution - Missense 7:96097523-96097523 + pfg181T COSM4759013 c.1208C>T p.A403V Substitution - Missense 7:96032707-96032707 + T41 COSM5345426 c.696C>A p.I232I Substitution - coding silent 7:95984879-95984879 + sysucc-1050T COSM3396712 c.1086G>A p.S362S Substitution - coding silent 7:96028240-96028240 + TCGA-06-0166-01 COSM2150180 c.397C>T p.L133F Substitution - Missense 7:95828088-95828088 + TCGA-06-0166 COSM2150180 c.397C>T p.L133F Substitution - Missense 7:95828088-95828088 + Pat_37_B COSM1093380 c.1885C>T p.R629C Substitution - Missense 7:96097540-96097540 + TCGA-CG-5721-01 COSM3883572 c.1370T>C p.V457A Substitution - Missense 7:96035707-96035707 + PD2127a COSM51869 c.1118A>T p.H373L Substitution - Missense 7:96028272-96028272 + TCGA-13-1491-01 COSM79172 c.328G>T p.G110* Substitution - Nonsense 7:95813300-95813300 + TCGA-DD-A3A9-01 COSM4920539 c.749A>G p.D250G Substitution - Missense 7:95984932-95984932 + ESO-139 COSM1250830 c.338A>C p.D113A Substitution - Missense 7:95813310-95813310 + LUAD-NYU259 COSM371997 c.884G>T p.W295L Substitution - Missense 7:95987145-95987145 + 8057643 COSM4139366 c.752T>A p.I251N Substitution - Missense 7:95984935-95984935 + CSCC-11-T COSM4520788 c.1077G>A p.G359G Substitution - coding silent 7:96028231-96028231 + TCGA-HU-A4GQ-01 COSM3883575 c.1802G>A p.R601H Substitution - Missense 7:96080463-96080463 + TCGA-BP-4998-01 COSM485768 c.715C>T p.R239W Substitution - Missense 7:95984898-95984898 + S02279 COSM5683879 c.1304A>G p.N435S Substitution - Missense 7:96035641-96035641 + T3202 COSM1250834 c.1005C>T p.Y335Y Substitution - coding silent 7:95996058-95996058 + sysucc-311T COSM5467264 c.1502T>G p.F501C Substitution - Missense 7:96039363-96039363 + TCGA-D7-6528-01 COSM3883571 c.1289T>C p.M430T Substitution - Missense 7:96035626-96035626 + 61 COSM5738023 c.356C>A p.P119Q Substitution - Missense 7:95813328-95813328 + sysucc-882T COSM5447779 c.706C>T p.R236W Substitution - Missense 7:95984889-95984889 + TCGA-KK-A59V-01 COSM4878163 c.1634C>A p.P545H Substitution - Missense 7:96076130-96076130 + 37M COSM5583469 c.1267C>T p.L423F Substitution - Missense 7:96032766-96032766 + TCGA-FU-A3HZ-01 COSM4839737 c.300G>T p.S100S Substitution - coding silent 7:95813272-95813272 + PT37 COSM5919292 c.1859G>A p.R620Q Substitution - Missense 7:96097514-96097514 + TCGA-A5-A0VQ-01 COSM1093371 c.58delC p.Q20fs*2 Deletion - Frameshift 7:95804787-95804787 + S00035 COSM5656890 c.822_848del27 p.F275_H283delFNRQFYDEH Deletion - In frame 7:95987083-95987109 + CSCC-31-T COSM4504707 c.672C>T p.I224I Substitution - coding silent 7:95984855-95984855 + T2974 COSM4679802 c.135C>T p.P45P Substitution - coding silent 7:95810418-95810418 + LUAD-NYU284 COSM373283 c.265C>G p.H89D Substitution - Missense 7:95813237-95813237 + TCGA-BR-8081-01 COSM3883569 c.447C>A p.G149G Substitution - coding silent 7:95869904-95869904 + CSCC-44-T COSM4504742 c.673C>T p.L225F Substitution - Missense 7:95984856-95984856 + TCGA-F4-6809-01 COSM1093374 c.572C>A p.S191Y Substitution - Missense 7:95977542-95977542 + TCGA-A2-A0CR-01 COSM3833539 c.1188T>A p.N396K Substitution - Missense 7:96032687-96032687 + HCC90T COSM1623335 c.351G>A p.L117L Substitution - coding silent 7:95813323-95813323 + TCGA-E3-A3E5-01 COSM3374706 c.1330G>A p.G444R Substitution - Missense 7:96035667-96035667 + ESO-171 COSM1250831 c.1364T>C p.F455S Substitution - Missense 7:96035701-96035701 + 432 COSM4433599 c.1450C>T p.Q484* Substitution - Nonsense 7:96039311-96039311 + TCGA-37-4133-01 COSM171431 c.1049G>A p.R350H Substitution - Missense 7:96028203-96028203 + Pat_08_B COSM5873434 c.1247G>A p.C416Y Substitution - Missense 7:96032746-96032746 + TCGA-06-0185 COSM2150542 c.448G>A p.V150M Substitution - Missense 7:95869905-95869905 + 8016470 COSM3394960 c.210G>A p.P70P Substitution - coding silent 7:95810493-95810493 + TCGA-34-5232-01 COSM748415 c.287T>C p.M96T Substitution - Missense 7:95813259-95813259 + T3151 COSM4679804 c.707G>A p.R236Q Substitution - Missense 7:95984890-95984890 + TCGA-EI-6917-01 COSM1755442 c.160C>T p.R54C Substitution - Missense 7:95810443-95810443 + TCGA-AR-A0TU-01 COSM453614 c.1909G>A p.E637K Substitution - Missense 7:96097564-96097564 + CSCC-45-T COSM1623335 c.351G>A p.L117L Substitution - coding silent 7:95813323-95813323 + TCGA-AZ-4315-01 COSM280668 c.1437C>A p.V479V Substitution - coding silent 7:96039298-96039298 + MAVER-1 COSM1739411 c.1321G>T p.A441S Substitution - Missense 7:96035658-96035658 + LUAD-NYU669 COSM375875 c.1819G>T p.V607F Substitution - Missense 7:96080480-96080480 + 2521252 COSM5888988 c.1020+4G>A p.? Unknown 7:95996077-95996077 + YUPAT COSM1698949 c.1052T>G p.F351C Substitution - Missense 7:96028206-96028206 + DM99 COSM5608327 c.1348G>A p.G450R Substitution - Missense 7:96035685-96035685 + SJDES007-R1 COSM4587642 c.215C>T p.P72L Substitution - Missense 7:95810498-95810498 + CPCG_0001_Pr_P_F0 COSM3396712 c.1086G>A p.S362S Substitution - coding silent 7:96028240-96028240 + HCC90 COSM1623335 c.351G>A p.L117L Substitution - coding silent 7:95813323-95813323 + CPCG0103-P4 COSM3396711 c.182C>A p.A61D Substitution - Missense 7:95810465-95810465 + SB_06 COSM5752926 c.1498G>A p.D500N Substitution - Missense 7:96039359-96039359 + BD124T COSM2865642 c.1207G>A p.A403T Substitution - Missense 7:96032706-96032706 + TCGA-D8-A1XK-01 COSM3833538 c.1152A>C p.S384S Substitution - coding silent 7:96028306-96028306 + TCGA-DJ-A2Q1-01 COSM3374705 c.224-1G>A p.? Unknown 7:95813195-95813195 + DM29 COSM5608319 c.567G>A p.V189V Substitution - coding silent 7:95977537-95977537 + S02274 COSM5682592 c.1509C>A p.H503Q Substitution - Missense 7:96039370-96039370 + TCGA-AR-A1AI-01 COSM453613 c.1500C>A p.D500E Substitution - Missense 7:96039361-96039361 + cSCCP7 COSM139721 c.1138C>T p.R380W Substitution - Missense 7:96028292-96028292 + 35M COSM1093380 c.1885C>T p.R629C Substitution - Missense 7:96097540-96097540 + TCGA-FD-A3N6-01 COSM1313450 c.527C>T p.T176M Substitution - Missense 7:95869984-95869984 + HCC49 COSM1623336 c.479C>A p.P160Q Substitution - Missense 7:95869936-95869936 + TCGA-28-1747-01 COSM3412516 c.299C>T p.S100L Substitution - Missense 7:95813271-95813271 + YUFERY COSM5408331 c.1791C>T p.D597D Substitution - coding silent 7:96080452-96080452 + ESO-837 COSM1250833 c.1748G>A p.R583H Substitution - Missense 7:96080409-96080409 + Farage COSM1582037 c.15_16delTG p.S5fs*5 Deletion - Frameshift 7:95804744-95804745 + TCGA-D1-A16Y-01 COSM1093375 c.632C>T p.A211V Substitution - Missense 7:95984815-95984815 + B65-Tumor COSM1755442 c.160C>T p.R54C Substitution - Missense 7:95810443-95810443 + TCGA-AP-A059-01 COSM1093374 c.572C>A p.S191Y Substitution - Missense 7:95977542-95977542 + TCGA-23-1124-01 COSM74469 c.1696A>C p.T566P Substitution - Missense 7:96076192-96076192 + 219 COSM4425077 c.1559A>C p.K520T Substitution - Missense 7:96039420-96039420 + SC_9073 COSM5562852 c.209C>T p.P70L Substitution - Missense 7:95810492-95810492 + LUAD-S01356 COSM398369 c.1757_1758GG>TT p.W586>? Complex 7:96080418-96080419 + 61 COSM5738027 c.1396A>G p.T466A Substitution - Missense 7:96035733-96035733 + A549 COSM1673322 c.1066G>A p.V356M Substitution - Missense 7:96028220-96028220 + TCGA-06-0185-01 COSM2150542 c.448G>A p.V150M Substitution - Missense 7:95869905-95869905 + TCGA-21-5784-01 COSM748414 c.477G>T p.L159L Substitution - coding silent 7:95869934-95869934 + BD124T COSM2865624 c.770G>A p.G257D Substitution - Missense 7:95984953-95984953 + PD4120a COSM160617 c.265C>T p.H89Y Substitution - Missense 7:95813237-95813237 + TCGA-41-3392-01 COSM3412518 c.1321G>A p.A441T Substitution - Missense 7:96035658-96035658 + TCGA-CD-8536-01 COSM3883570 c.1174G>A p.V392M Substitution - Missense 7:96032673-96032673 + TCGA-FW-A3R5-06 COSM3924299 c.598G>A p.E200K Substitution - Missense 7:95977568-95977568 + SNUH_G73_S1 COSM4415766 c.528G>C p.T176T Substitution - coding silent 7:95869985-95869985 + TCGA-A8-A09Z-01 COSM2865600 c.40delA p.K15fs*4 Deletion - Frameshift 7:95804769-95804769 + DLBCL783 COSM1580841 c.614A>G p.K205R Substitution - Missense 7:95977584-95977584 + PDA_031 COSM1568791 c.1397C>T p.T466M Substitution - Missense 7:96035734-96035734 + DLBCL835 COSM1580842 c.1616T>G p.M539R Substitution - Missense 7:96076112-96076112 + S02120 COSM5673827 c.1853G>T p.W618L Substitution - Missense 7:96097508-96097508 + Pat_08_A COSM5873434 c.1247G>A p.C416Y Substitution - Missense 7:96032746-96032746 + TCGA-AA-A00N-01 COSM274909 c.300G>A p.S100S Substitution - coding silent 7:95813272-95813272 + sysucc-880T COSM1093380 c.1885C>T p.R629C Substitution - Missense 7:96097540-96097540 + PD4595a COSM160618 c.499T>G p.S167A Substitution - Missense 7:95869956-95869956 + CSCC-41-T COSM4478089 c.220C>T p.L74L Substitution - coding silent 7:95810503-95810503 + PT35 COSM3924299 c.598G>A p.E200K Substitution - Missense 7:95977568-95977568 + DM26 COSM274909 c.300G>A p.S100S Substitution - coding silent 7:95813272-95813272 + CHC736T COSM4957587 c.696C>T p.I232I Substitution - coding silent 7:95984879-95984879 + HN_62686 COSM122740 c.1701G>T p.E567D Substitution - Missense 7:96076197-96076197 + CSCC-49-T COSM4553645 c.597G>A p.L199L Substitution - coding silent 7:95977567-95977567 + CPCG0001-F1 COSM3396712 c.1086G>A p.S362S Substitution - coding silent 7:96028240-96028240 + LIM1899 COSM4640816 c.202A>T p.I68F Substitution - Missense 7:95810485-95810485 + PT52 COSM5939685 c.637C>T p.P213S Substitution - Missense 7:95984820-95984820 + pfg034T COSM4759014 c.1628T>G p.V543G Substitution - Missense 7:96076124-96076124 + LIM2405 COSM4613741 c.914_915insT p.S306fs*6 Insertion - Frameshift 7:95995967-95995968 + CSCC-5-T COSM4492635 c.400C>T p.Q134* Substitution - Nonsense 7:95828091-95828091 + TCGA-BR-7197-01 COSM3883574 c.1731G>A p.G577G Substitution - coding silent 7:96080392-96080392 + GHE0609 COSM5714276 c.1328C>G p.T443S Substitution - Missense 7:96035665-96035665 + Pat_07_B COSM5873438 c.1819G>A p.V607I Substitution - Missense 7:96080480-96080480 + TCGA-D3-A2JH-06 COSM3642595 c.693C>T p.L231L Substitution - coding silent 7:95984876-95984876 + LP2000104-DNA_A01 COSM5036883 c.365+5G>A p.? Unknown 7:95813342-95813342 + DM99 COSM5608325 c.1260G>A p.L420L Substitution - coding silent 7:96032759-96032759 + CHC1725T COSM2150542 c.448G>A p.V150M Substitution - Missense 7:95869905-95869905 + BCM257T COSM4951536 c.39C>T p.R13R Substitution - coding silent 7:95804768-95804768 + TCGA-HT-7476-01 COSM3929275 c.1085C>T p.S362L Substitution - Missense 7:96028239-96028239 + TCGA-EE-A29N-06 COSM3642599 c.1740C>T p.A580A Substitution - coding silent 7:96080401-96080401 + HCT-15 COSM1684110 c.44delA p.K15fs*4 Deletion - Frameshift 7:95804773-95804773 + ESO-179 COSM1250832 c.863G>A p.R288Q Substitution - Missense 7:95987124-95987124 + SNU-C4 COSM4654294 c.1868G>T p.R623M Substitution - Missense 7:96097523-96097523 + TCGA-D1-A16Y-01 COSM1093377 c.753C>A p.I251I Substitution - coding silent 7:95984936-95984936 + YUWIC COSM1093380 c.1885C>T p.R629C Substitution - Missense 7:96097540-96097540 + YUGATOR COSM5408329 c.787_794+3delAAAGATGGGTT p.? Unknown 7:95984970-95984980 + DM43 COSM5608321 c.880G>A p.D294N Substitution - Missense 7:95987141-95987141 + T1764 COSM4679807 c.1354G>A p.V452I Substitution - Missense 7:96035691-96035691 + N554T COSM236092 c.748G>A p.D250N Substitution - Missense 7:95984931-95984931 + TCGA-CD-8536-01 COSM1313450 c.527C>T p.T176M Substitution - Missense 7:95869984-95869984 + TCGA-D3-A1Q6-06 COSM3642594 c.292C>T p.P98S Substitution - Missense 7:95813264-95813264 + 1288T COSM5762497 c.1466G>A p.G489E Substitution - Missense 7:96039327-96039327 + TCGA-BM-6198-01 COSM3431907 c.1045G>A p.A349T Substitution - Missense 7:96028199-96028199 + MDA-MB-231 COSM1673323 c.1801C>A p.R601S Substitution - Missense 7:96080462-96080462 + PT35 COSM602647 c.178G>A p.E60K Substitution - Missense 7:95810461-95810461 + ESCC_10 COSM1453045 c.1034C>T p.S345L Substitution - Missense 7:96028188-96028188 + LUAD-RT-S01777 COSM382491 c.708G>T p.R236R Substitution - coding silent 7:95984891-95984891 + TCGA-CG-4442-01 COSM3883576 c.1842C>T p.H614H Substitution - coding silent 7:96097497-96097497 + HT COSM1580843 c.1820T>C p.V607A Substitution - Missense 7:96080481-96080481 + TCGA-AF-2693-01 COSM1568791 c.1397C>T p.T466M Substitution - Missense 7:96035734-96035734 + 8057559 COSM3394961 c.422T>C p.L141P Substitution - Missense 7:95828113-95828113 + YUKAT COSM2865630 c.894G>A p.Q298Q Substitution - coding silent 7:95987155-95987155 + TCGA-D8-A1XQ-01 COSM3833540 c.1377T>C p.S459S Substitution - coding silent 7:96035714-96035714 + HT115 COSM2865631 c.923A>G p.N308S Substitution - Missense 7:95995976-95995976 + 386 COSM3929275 c.1085C>T p.S362L Substitution - Missense 7:96028239-96028239 + DM10 COSM5608315 c.716G>T p.R239L Substitution - Missense 7:95984899-95984899 + TCGA-EE-A2GC-06 COSM3642593 c.284C>T p.P95L Substitution - Missense 7:95813256-95813256 + TCGA-EE-A29B-06 COSM3642598 c.1597G>A p.D533N Substitution - Missense 7:96076093-96076093 + Pat_54_A COSM5873430 c.754delT p.F253fs*8 Deletion - Frameshift 7:95984937-95984937 + Pat_53_B COSM5873436 c.1406G>A p.R469H Substitution - Missense 7:96035743-96035743 + DM45 COSM1093380 c.1885C>T p.R629C Substitution - Missense 7:96097540-96097540 + QC2-34-T2 COSM5654778 c.936T>C p.D312D Substitution - coding silent 7:95995989-95995989 + YUSAG COSM1698951 c.1517T>G p.V506G Substitution - Missense 7:96039378-96039378 + CRC-10T COSM5457723 c.127A>G p.K43E Substitution - Missense 7:95810410-95810410 + TCGA-C5-A7UH-01 COSM4856699 c.1585G>A p.E529K Substitution - Missense 7:96076081-96076081 + TCGA-CM-6678-01 COSM139721 c.1138C>T p.R380W Substitution - Missense 7:96028292-96028292 + TCGA-AD-5900-01 COSM3698614 c.1815T>C p.Y605Y Substitution - coding silent 7:96080476-96080476 + HCC2998 COSM2865667 c.1788G>A p.G596G Substitution - coding silent 7:96080449-96080449 + tumor_4136702 COSM5948031 c.555T>C p.D185D Substitution - coding silent 7:95977525-95977525 + 61 COSM3642593 c.284C>T p.P95L Substitution - Missense 7:95813256-95813256 + TCGA-EE-A3JB-06 COSM4551838 c.541G>A p.E181K Substitution - Missense 7:95869998-95869998 + TCGA-33-4538-01 COSM748408 c.1411G>A p.G471R Substitution - Missense 7:96035748-96035748 + TCGA-06-0129 COSM2149518 c.1120C>T p.R374* Substitution - Nonsense 7:96028274-96028274 + SNU-175 COSM2865668 c.1803T>C p.R601R Substitution - coding silent 7:96080464-96080464 + S01861 COSM2865610 c.297C>T p.S99S Substitution - coding silent 7:95813269-95813269 + YUBOT COSM1093380 c.1885C>T p.R629C Substitution - Missense 7:96097540-96097540 + TCGA-39-5019-01 COSM748407 c.1737C>A p.S579S Substitution - coding silent 7:96080398-96080398 + T207 COSM4679806 c.1139G>A p.R380Q Substitution - Missense 7:96028293-96028293 + TCGA-CA-6718-01 COSM280668 c.1437C>A p.V479V Substitution - coding silent 7:96039298-96039298 + CSCC-55-T COSM4486502 c.305C>T p.S102L Substitution - Missense 7:95813277-95813277 + SJTALL001 COSM305905 c.248G>A p.W83* Substitution - Nonsense 7:95813220-95813220 + TCGA-A8-A0A6-01 COSM3833537 c.1143A>C p.T381T Substitution - coding silent 7:96028297-96028297 + TCGA-ER-A19A-06 COSM3642596 c.829C>T p.R277C Substitution - Missense 7:95987090-95987090 + 6P2-2 COSM3734473 c.62T>G p.I21R Substitution - Missense 7:95804791-95804791 + STC252 COSM171431 c.1049G>A p.R350H Substitution - Missense 7:96028203-96028203 + PD18730a COSM5787172 c.1817A>G p.D606G Substitution - Missense 7:96080478-96080478 + LUAD-B00416 COSM331580 c.479C>G p.P160R Substitution - Missense 7:95869936-95869936 + HT115 COSM2149518 c.1120C>T p.R374* Substitution - Nonsense 7:96028274-96028274 + S01873 COSM5329309 c.529C>T p.H177Y Substitution - Missense 7:95869986-95869986 + YUGASP COSM1686540 c.1020+1G>A p.? Unknown 7:95996074-95996074 + TCGA-33-4583-01 COSM748413 c.503A>G p.K168R Substitution - Missense 7:95869960-95869960 + pfg181T COSM4759011 c.581G>A p.G194D Substitution - Missense 7:95977551-95977551 + TCGA-A5-A0GH-01 COSM198763 c.230C>T p.P77L Substitution - Missense 7:95813202-95813202 + EGC15 COSM5062685 c.1078A>G p.T360A Substitution - Missense 7:96028232-96028232 + 813T COSM748411 c.770G>T p.G257V Substitution - Missense 7:95984953-95984953 + 90738 COSM329338 c.1347G>A p.T449T Substitution - coding silent 7:96035684-96035684 + HCC49T COSM1623336 c.479C>A p.P160Q Substitution - Missense 7:95869936-95869936 + TCGA-18-3411-01 COSM748412 c.547G>T p.E183* Substitution - Nonsense 7:95977517-95977517 + TCGA-18-3409-01 COSM748409 c.889C>T p.L297F Substitution - Missense 7:95987150-95987150 + RL COSM1580840 c.449T>A p.V150E Substitution - Missense 7:95869906-95869906 + 1312T COSM5763050 c.1079C>A p.T360N Substitution - Missense 7:96028233-96028233 + Pat_02_B COSM5873430 c.754delT p.F253fs*8 Deletion - Frameshift 7:95984937-95984937 + TCGA-56-6546-01 COSM748411 c.770G>T p.G257V Substitution - Missense 7:95984953-95984953 + TCGA-BS-A0UV-01 COSM1093379 c.1250C>T p.S417F Substitution - Missense 7:96032749-96032749 + TCGA-14-1450-01 COSM3412517 c.830G>A p.R277H Substitution - Missense 7:95987091-95987091 + TCGA-EE-A29E-06 COSM3642600 c.1781C>T p.A594V Substitution - Missense 7:96080442-96080442 + 2492730 COSM5728936 c.941C>T p.P314L Substitution - Missense 7:95995994-95995994 + ATL009 COSM3412518 c.1321G>A p.A441T Substitution - Missense 7:96035658-96035658 + TCGA-AA-3693-01 COSM268305 c.856A>T p.K286* Substitution - Nonsense 7:95987117-95987117 + LS411 COSM2865630 c.894G>A p.Q298Q Substitution - coding silent 7:95987155-95987155 + TCGA-AA-A010-01 COSM280668 c.1437C>A p.V479V Substitution - coding silent 7:96039298-96039298 + TCGA-AX-A0J0-01 COSM1093372 c.422T>G p.L141R Substitution - Missense 7:95828113-95828113 + TCGA-CM-6170-01 COSM1453047 c.1906G>A p.E636K Substitution - Missense 7:96097561-96097561 + CSCC-62-T COSM4551838 c.541G>A p.E181K Substitution - Missense 7:95869998-95869998 + 587328 COSM1204765 c.73A>C p.K25Q Substitution - Missense 7:95804802-95804802 + 8 COSM4166919 c.1253G>A p.W418* Substitution - Nonsense 7:96032752-96032752 + CHC1704T COSM4803965 c.1455G>A p.G485G Substitution - coding silent 7:96039316-96039316 + T3144 COSM4679805 c.1053C>G p.F351L Substitution - Missense 7:96028207-96028207 + TCGA-GV-A40G-01 COSM305905 c.248G>A p.W83* Substitution - Nonsense 7:95813220-95813220 + HT115 COSM274909 c.300G>A p.S100S Substitution - coding silent 7:95813272-95813272 + TCGA-ER-A19M-06 COSM3642592 c.279A>T p.P93P Substitution - coding silent 7:95813251-95813251 + TCGA-AX-A05Z-01 COSM1093373 c.456G>T p.K152N Substitution - Missense 7:95869913-95869913 + TCGA-BS-A0UF-01 COSM1093379 c.1250C>T p.S417F Substitution - Missense 7:96032749-96032749 + S01297 COSM5667766 c.628G>A p.E210K Substitution - Missense 7:95977598-95977598 + CHC1704T COSM4803965 c.1455G>A p.G485G Substitution - coding silent 7:96039316-96039316 + TCGA-D1-A16X-01 COSM1093380 c.1885C>T p.R629C Substitution - Missense 7:96097540-96097540 + TCGA-AD-6964-01 COSM1453044 c.939_940insC p.H315fs*2 Insertion - Frameshift 7:95995992-95995993 + PR-09-5700 COSM244171 c.1905C>T p.S635S Substitution - coding silent 7:96097560-96097560 + 587298 COSM1204766 c.981G>T p.K327N Substitution - Missense 7:95996034-95996034 + D01 COSM1250833 c.1748G>A p.R583H Substitution - Missense 7:96080409-96080409 + TCGA-CC-A7IL-01 COSM4912012 c.1631A>G p.H544R Substitution - Missense 7:96076127-96076127 + 381_T COSM3950997 c.1176G>T p.V392V Substitution - coding silent 7:96032675-96032675 + T3021 COSM3412518 c.1321G>A p.A441T Substitution - Missense 7:96035658-96035658 + S0033 COSM5884611 c.145G>A p.D49N Substitution - Missense 7:95810428-95810428 + HCT116 COSM2865616 c.409T>C p.S137P Substitution - Missense 7:95828100-95828100 + YUDUTY COSM1093380 c.1885C>T p.R629C Substitution - Missense 7:96097540-96097540 + DLBCL798 COSM1580841 c.614A>G p.K205R Substitution - Missense 7:95977584-95977584 + MOLT-4 COSM1673321 c.214C>T p.P72S Substitution - Missense 7:95810497-95810497 + DM8 COSM5608323 c.289T>C p.S97P Substitution - Missense 7:95813261-95813261 + 462 COSM4436922 c.1609G>C p.D537H Substitution - Missense 7:96076105-96076105 + AA2004 COSM4169010 c.658G>T p.E220* Substitution - Nonsense 7:95984841-95984841 + SJTALL001 COSM305905 c.248G>A p.W83* Substitution - Nonsense 7:95813220-95813220 + TCGA-06-0129-01 COSM2149518 c.1120C>T p.R374* Substitution - Nonsense 7:96028274-96028274 + B65 COSM1755442 c.160C>T p.R54C Substitution - Missense 7:95810443-95810443 + TCGA-CM-5348-01 COSM1453047 c.1906G>A p.E636K Substitution - Missense 7:96097561-96097561 + PD4203a COSM160619 c.204C>T p.I68I Substitution - coding silent 7:95810487-95810487 + tumor_4136702 COSM1093377 c.753C>A p.I251I Substitution - coding silent 7:95984936-95984936 + TCGA-30-1855-01 COSM1330445 c.1864G>T p.A622S Substitution - Missense 7:96097519-96097519 + ccRCC-62 COSM1665452 c.599delA p.N201fs*8 Deletion - Frameshift 7:95977569-95977569 + TCGA-EJ-7331-01 COSM1472029 c.1692T>C p.N564N Substitution - coding silent 7:96076188-96076188 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.440322;Hs.440343;Hs.440364 7q21.3-q22.1 603772 1521775|dbSNP|BC022540|C/T|coding|Ser276Pro|1011|Candidate; 1521775|dbSNP|BC032945|C/T|coding|Ser279Pro|1063|Candidate; 1521775|dbSNP|BC037854|C/T|coding|Ser279Pro|1053|Candidate; 1521775|dbSNP|BC053542|C/T|coding|Ser279Pro|1051|Candidate; 1521781|dbSNP|BC022540|G/T|coding|Val548Val|1829|Validated; 1521781|dbSNP|BC032945|G/T|coding|Val551Val|1881|Validated; 1521781|dbSNP|BC037854|G/T|coding|Val551Val|1871|Validated; 1521781|dbSNP|BC053542|G/T|coding|Val551Val|1869|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.1-3673A>C 7 95430369 CLL A C IntronicSNV . c.542-25442A>C 7 95581382 CLL A C Missense p.D113A c.338A>C 7 95442622 ESCA A C Missense p.T566P c.1696A>C 7 95705504 OV A - Frameshift p.D264Mfs*39 c.789delA 7 95614280 STAD A G Missense p.K15R c.44A>G 7 95434085 HNSC A G Missense p.K168R c.503A>G 7 95499272 LUSC A G Missense p.T217A c.649A>G 7 95614144 UCEC A T Nonsense p.K286* c.856A>T 7 95616429 COREAD C A IntronicSNV . c.1021-44C>A 7 95657443 NSCLC C A Missense p.D500E c.1500C>A 7 95668673 BRCA C A Missense p.S342Y c.1025C>A 7 95657491 LUAD C A Synonymous p.I251I c.753C>A 7 95614248 UCEC C A Synonymous p.P391P c.1173C>A 7 95661984 CM C A Synonymous p.S579S c.1737C>A 7 95709710 LUSC C - Frameshift p.Q20Rfs*2 c.58delC 7 95434099 UCEC C G Missense p.N631K c.1893C>G 7 95726860 BRCA C G Missense p.Q195E c.583C>G 7 95606865 CM C G Missense p.R380G c.1138C>G 7 95657604 LUAD C G Missense p.T59R c.176C>G 7 95439771 HNSC C T IntronicSNV . c.108+2744C>T 7 95436893 CLL C T Missense p.A211V c.632C>T 7 95614127 UCEC C T Missense p.H89Y c.265C>T 7 95442549 BRCA C T Missense p.H89Y c.265C>T 7 95442549 CM C T Missense p.L133F c.397C>T 7 95457400 GBM C T Missense p.P426S c.1276C>T 7 95662087 LUAD C T Missense p.P77L c.230C>T 7 95442514 COREAD C T Missense p.P77L c.230C>T 7 95442514 UCEC C T Missense p.P95L c.284C>T 7 95442568 CM C T Missense p.P98S c.292C>T 7 95442576 CM C T Missense p.R277C c.829C>T 7 95616402 CM C T Missense p.S100L c.299C>T 7 95442583 GBM C T Missense p.S362L c.1085C>T 7 95657551 LGG C T Missense p.T176M c.527C>T 7 95499296 BLCA C T Missense p.T389M c.1166C>T 7 95657632 LGG C T Nonsense p.R258* c.772C>T 7 95614267 STAD C T Nonsense p.R374* c.1120C>T 7 95657586 GBM C T Synonymous p.A580A c.1740C>T 7 95709713 CM C T Synonymous p.F348F c.1044C>T 7 95657510 CM C T Synonymous p.F447F c.1341C>T 7 95664990 CM C T Synonymous p.I68I c.204C>T 7 95439799 BRCA C T Synonymous p.L231L c.693C>T 7 95614188 CM C T Synonymous p.T154T c.462C>T 7 95499231 LUAD C T Synonymous p.Y465Y c.1395C>T 7 95665044 LUAD G A IntronicSNV . c.1827+5665G>A 7 95715465 CLL G A Missense p.A441T c.1321G>A 7 95664970 GBM G A Missense p.D533N c.1597G>A 7 95705405 CM G A Missense p.D634N c.1900G>A 7 95726867 CM G A Missense p.E181K c.541G>A 7 95499310 CM G A Missense p.E60K c.178G>A 7 95439773 LUAD G A Missense p.E637K c.1909G>A 7 95726876 BRCA G A Missense p.G115S c.343G>A 7 95442627 OV G A Missense p.G444R c.1330G>A 7 95664979 THCA G A Missense p.G471R c.1411G>A 7 95665060 LUSC G A Missense p.R277H c.830G>A 7 95616403 GBM G A Missense p.R288Q c.863G>A 7 95616436 ESCA G A Missense p.R350H c.1049G>A 7 95657515 LUSC G A Missense p.R583H c.1748G>A 7 95709721 ESCA G A Missense p.V150M c.448G>A 7 95499217 GBM G A Missense p.V456M c.1366G>A 7 95665015 GBM G A Nonsense p.W618* c.1854G>A 7 95726821 CM G A SpliceAcceptorSNV . c.224-1G>A 7 95442507 THCA G A Synonymous p.T449T c.1347G>A 7 95664996 HNSC G C Missense p.D451H c.1351G>C 7 95665000 COREAD G C Missense p.L216F c.648G>C 7 95614143 LUAD G C Missense p.Q340H c.1020G>C 7 95625385 CM G C Missense p.R380P c.1139G>C 7 95657605 SCLC G C Synonymous p.L148L c.444G>C 7 95499213 CM G T Missense p.A19S c.55G>T 7 95434096 NSCLC G T Missense p.A271S c.811G>T 7 95616384 LUAD G T Missense p.E567D c.1701G>T 7 95705509 HNSC G T Missense p.G115C c.343G>T 7 95442627 LUAD G T Missense p.G257V c.770G>T 7 95614265 LUSC G T Missense p.G471V c.1412G>T 7 95665061 STAD G T Missense p.R258L c.773G>T 7 95614268 CM G T Missense p.W368C c.1104G>T 7 95657570 LUAD G T Missense p.W418C c.1254G>T 7 95662065 LUAD G T Nonsense p.E183* c.547G>T 7 95606829 LUSC G T Nonsense p.G110* c.328G>T 7 95442612 OV G T SpliceAcceptorSNV . c.1416-1G>T 7 95668588 HNSC G T Synonymous p.L159L c.477G>T 7 95499246 LUSC G T Synonymous p.V75V c.225G>T 7 95442509 LUAD T A Missense p.V392E c.1175T>A 7 95661986 CM T C Missense p.F455S c.1364T>C 7 95665013 ESCA T C Missense p.M430T c.1289T>C 7 95664938 STAD T C Missense p.M96T c.287T>C 7 95442571 LUSC T C Synonymous p.D412D c.1236T>C 7 95662047 LUAD T C Synonymous p.L62L c.184T>C 7 95439779 COREAD T C Synonymous p.N564N c.1692T>C 7 95705500 PRAD T G Missense p.S167A c.499T>G 7 95499268 BRCA T - IntronicDeletion . c.1560+4307delT 7 95673029 CM - T IntronicInsertion . c.1560+16749dupT 7 95685473 STAD