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 11 72551973 72551973 + Silent SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 g.chr11:72551973G>A c.2088C>T c.(2086-2088)ttC>ttT p.F696F BLCA 11 72553845 72553845 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr11:72553845C>T c.1747G>A c.(1747-1749)Gat>Aat p.D583N BLCA 11 72554550 72554550 + Missense_Mutation SNP C C G TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr11:72554550C>G c.1471G>C c.(1471-1473)Gag>Cag p.E491Q BLCA 11 72726931 72726931 + Splice_Site SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 g.chr11:72726931C>G c.e4-1 BRCA 11 72552500 72552500 + Splice_Site SNP G G A TCGA-A7-A26I-01A-11D-A167-09 TCGA-A7-A26I-10A-01D-A167-09 g.chr11:72552500G>A c.2055C>T c.(2053-2055)aaC>aaT p.N685N BRCA 11 72554333 72554333 + Frame_Shift_Del DEL T T - TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr11:72554333delT c.1568delA c.(1567-1569)aagfs p.K523fs BRCA 11 72712106 72712106 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr11:72712106C>G c.316G>C c.(316-318)Gaa>Caa p.E106Q CESC 11 72551993 72551993 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 g.chr11:72551993G>A c.2068C>T c.(2068-2070)Cat>Tat p.H690Y CESC 11 72553785 72553785 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr11:72553785C>T c.1807G>A c.(1807-1809)Gat>Aat p.D603N COAD 11 72549836 72549836 + Nonstop_Mutation SNP T T C TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr11:72549836T>C c.2223A>G c.(2221-2223)tgA>tgG p.*741W COAD 11 72551960 72551960 + Missense_Mutation SNP T T C TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr11:72551960T>C c.2101A>G c.(2101-2103)Agg>Ggg p.R701G COAD 11 72552500 72552500 + Splice_Site SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr11:72552500G>A c.2055C>T c.(2053-2055)aaC>aaT p.N685N COAD 11 72553807 72553807 + Silent SNP A A G TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chr11:72553807A>G c.1785T>C c.(1783-1785)cgT>cgC p.R595R COAD 11 72554254 72554254 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr11:72554254C>T c.1647G>A c.(1645-1647)acG>acA p.T549T COAD 11 72554353 72554353 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:72554353T>C c.1548A>G c.(1546-1548)caA>caG p.Q516Q COAD 11 72560892 72560892 + Missense_Mutation SNP C C T TCGA-AA-3972-01A-01W-0995-10 TCGA-AA-3972-10A-01W-0999-10 g.chr11:72560892C>T c.1351G>A c.(1351-1353)Gat>Aat p.D451N COAD 11 72560905 72560905 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr11:72560905G>A c.1338C>T c.(1336-1338)ggC>ggT p.G446G COAD 11 72579048 72579048 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:72579048G>A c.1170C>T c.(1168-1170)gcC>gcT p.A390A COAD 11 72600904 72600904 + Silent SNP A A C TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr11:72600904A>C c.1011T>G c.(1009-1011)cgT>cgG p.R337R COAD 11 72613604 72613604 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr11:72613604G>A c.908C>T c.(907-909)cCt>cTt p.P303L COAD 11 72613652 72613652 + Frame_Shift_Del DEL A A - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr11:72613652delA c.860delT c.(859-861)ttgfs p.L287fs COAD 11 72632940 72632940 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:72632940C>T c.761G>A c.(760-762)cGg>cAg p.R254Q COAD 11 72700021 72700021 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:72700021T>C c.509A>G c.(508-510)gAc>gGc p.D170G COAD 11 72712059 72712059 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr11:72712059G>A c.363C>T c.(361-363)agC>agT p.S121S COADREAD 11 72549836 72549836 + Nonstop_Mutation SNP T T C TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr11:72549836T>C c.2223A>G c.(2221-2223)tgA>tgG p.*741W COADREAD 11 72551960 72551960 + Missense_Mutation SNP T T C TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr11:72551960T>C c.2101A>G c.(2101-2103)Agg>Ggg p.R701G COADREAD 11 72552500 72552500 + Splice_Site SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr11:72552500G>A c.2055C>T c.(2053-2055)aaC>aaT p.N685N COADREAD 11 72553764 72553764 + Missense_Mutation SNP C C G TCGA-AG-3586-01A-02W-0831-10 TCGA-AG-3586-10A-01W-0831-10 g.chr11:72553764C>G c.1828G>C c.(1828-1830)Ggg>Cgg p.G610R COADREAD 11 72553794 72553794 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:72553794C>A c.1798G>T c.(1798-1800)Gaa>Taa p.E600* COADREAD 11 72553807 72553807 + Silent SNP A A G TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chr11:72553807A>G c.1785T>C c.(1783-1785)cgT>cgC p.R595R COADREAD 11 72554254 72554254 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr11:72554254C>T c.1647G>A c.(1645-1647)acG>acA p.T549T COADREAD 11 72554353 72554353 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:72554353T>C c.1548A>G c.(1546-1548)caA>caG p.Q516Q COADREAD 11 72560840 72560840 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:72560840C>A c.1403G>T c.(1402-1404)aGa>aTa p.R468I COADREAD 11 72560892 72560892 + Missense_Mutation SNP C C T TCGA-AA-3972-01A-01W-0995-10 TCGA-AA-3972-10A-01W-0999-10 g.chr11:72560892C>T c.1351G>A c.(1351-1353)Gat>Aat p.D451N COADREAD 11 72560905 72560905 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr11:72560905G>A c.1338C>T c.(1336-1338)ggC>ggT p.G446G COADREAD 11 72579048 72579048 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:72579048G>A c.1170C>T c.(1168-1170)gcC>gcT p.A390A COADREAD 11 72579065 72579065 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:72579065T>G c.1153A>C c.(1153-1155)Aaa>Caa p.K385Q COADREAD 11 72600904 72600904 + Silent SNP A A C TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr11:72600904A>C c.1011T>G c.(1009-1011)cgT>cgG p.R337R COADREAD 11 72613604 72613604 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr11:72613604G>A c.908C>T c.(907-909)cCt>cTt p.P303L COADREAD 11 72613652 72613652 + Frame_Shift_Del DEL A A - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr11:72613652delA c.860delT c.(859-861)ttgfs p.L287fs COADREAD 11 72632940 72632940 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:72632940C>T c.761G>A c.(760-762)cGg>cAg p.R254Q COADREAD 11 72700017 72700017 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:72700017G>A c.513C>T c.(511-513)atC>atT p.I171I COADREAD 11 72700021 72700021 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:72700021T>C c.509A>G c.(508-510)gAc>gGc p.D170G COADREAD 11 72712059 72712059 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr11:72712059G>A c.363C>T c.(361-363)agC>agT p.S121S ESCA 11 72552577 72552577 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 g.chr11:72552577C>T c.1978G>A c.(1978-1980)Gac>Aac p.D660N ESCA 11 72613670 72613670 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr11:72613670T>C c.842A>G c.(841-843)tAc>tGc p.Y281C ESCA 11 72700022 72700022 + Missense_Mutation SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr11:72700022C>T c.508G>A c.(508-510)Gac>Aac p.D170N GBMLGG 11 72726854 72726854 + Splice_Site SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:72726854C>A c.242G>T c.(241-243)aGg>aTg p.R81M HNSC 11 72553697 72553697 + Missense_Mutation SNP T T A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr11:72553697T>A c.1895A>T c.(1894-1896)aAt>aTt p.N632I HNSC 11 72553832 72553832 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 g.chr11:72553832G>C c.1760C>G c.(1759-1761)tCt>tGt p.S587C HNSC 11 72554523 72554523 + Missense_Mutation SNP C C T TCGA-CQ-6220-01A-11D-1912-08 TCGA-CQ-6220-10A-01D-1912-08 g.chr11:72554523C>T c.1498G>A c.(1498-1500)Gaa>Aaa p.E500K HNSC 11 72600885 72600885 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr11:72600885G>A c.1030C>T c.(1030-1032)Cac>Tac p.H344Y HNSC 11 72696108 72696108 + Splice_Site DEL T T - TCGA-CV-6939-01A-11D-1912-08 TCGA-CV-6939-10A-01D-1912-08 g.chr11:72696108delT c.575delA c.(574-576)aag>ag p.K192fs HNSC 11 72712082 72712082 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr11:72712082C>G c.340G>C c.(340-342)Gag>Cag p.E114Q KIPAN 11 72552500 72552500 + Splice_Site SNP G G A TCGA-SX-A71U-01A-12D-A33Q-10 TCGA-SX-A71U-10A-01D-A33Q-10 g.chr11:72552500G>A c.2055C>T c.(2053-2055)aaC>aaT p.N685N KIPAN 11 72700036 72700036 + Missense_Mutation SNP A A G TCGA-Y8-A8RY-01A-11D-A36X-10 TCGA-Y8-A8RY-10A-01D-A370-10 g.chr11:72700036A>G c.494T>C c.(493-495)gTa>gCa p.V165A KIRP 11 72552500 72552500 + Splice_Site SNP G G A TCGA-SX-A71U-01A-12D-A33Q-10 TCGA-SX-A71U-10A-01D-A33Q-10 g.chr11:72552500G>A c.2055C>T c.(2053-2055)aaC>aaT p.N685N KIRP 11 72700036 72700036 + Missense_Mutation SNP A A G TCGA-Y8-A8RY-01A-11D-A36X-10 TCGA-Y8-A8RY-10A-01D-A370-10 g.chr11:72700036A>G c.494T>C c.(493-495)gTa>gCa p.V165A LGG 11 72726854 72726854 + Splice_Site SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:72726854C>A c.242G>T c.(241-243)aGg>aTg p.R81M LIHC 11 72551945 72551945 + Missense_Mutation SNP T T C TCGA-DD-A1ED-01A-11D-A152-10 TCGA-DD-A1ED-10A-01D-A152-10 g.chr11:72551945T>C c.2116A>G c.(2116-2118)Acc>Gcc p.T706A LIHC 11 72551974 72551974 + Missense_Mutation SNP A A G TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr11:72551974A>G c.2087T>C c.(2086-2088)tTc>tCc p.F696S LUAD 11 72554227 72554227 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr11:72554227G>C c.1674C>G c.(1672-1674)ctC>ctG p.L558L LUAD 11 72554509 72554509 + Missense_Mutation SNP C C A TCGA-62-A470-01A-11D-A24D-08 TCGA-62-A470-10A-01D-A24F-08 g.chr11:72554509C>A c.1512G>T c.(1510-1512)atG>atT p.M504I LUAD 11 72598594 72598594 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr11:72598594C>A c.1067G>T c.(1066-1068)gGa>gTa p.G356V LUAD 11 72695253 72695253 + Silent SNP G G A TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr11:72695253G>A c.585C>T c.(583-585)gcC>gcT p.A195A LUAD 11 72712069 72712069 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 g.chr11:72712069G>A c.353C>T c.(352-354)aCa>aTa p.T118I LUAD 11 72726866 72726866 + Missense_Mutation SNP C C T TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr11:72726866C>T c.230G>A c.(229-231)cGg>cAg p.R77Q LUSC 11 72598570 72598570 + Missense_Mutation SNP C C A TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr11:72598570C>A c.1091G>T c.(1090-1092)cGa>cTa p.R364L LUSC 11 72695219 72695219 + Missense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr11:72695219C>A c.619G>T c.(619-621)Gca>Tca p.A207S LUSC 11 72712089 72712089 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr11:72712089G>A c.333C>T c.(331-333)ttC>ttT p.F111F OV 11 72554254 72554254 + Silent SNP C C T TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 g.chr11:72554254C>T c.1647G>A c.(1645-1647)acG>acA p.T549T OV 11 72712057 72712057 + Frame_Shift_Del DEL A A - TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 g.chr11:72712057delA c.365delT c.(364-366)ttafs p.L122fs PAAD 11 72578921 72578921 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:72578921T>C c.1297A>G c.(1297-1299)Act>Gct p.T433A PRAD 11 72554562 72554562 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr11:72554562C>T c.1459G>A c.(1459-1461)Gag>Aag p.E487K READ 11 72553764 72553764 + Missense_Mutation SNP C C G TCGA-AG-3586-01A-02W-0831-10 TCGA-AG-3586-10A-01W-0831-10 g.chr11:72553764C>G c.1828G>C c.(1828-1830)Ggg>Cgg p.G610R READ 11 72553794 72553794 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:72553794C>A c.1798G>T c.(1798-1800)Gaa>Taa p.E600* READ 11 72560840 72560840 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:72560840C>A c.1403G>T c.(1402-1404)aGa>aTa p.R468I READ 11 72579065 72579065 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:72579065T>G c.1153A>C c.(1153-1155)Aaa>Caa p.K385Q READ 11 72700017 72700017 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:72700017G>A c.513C>T c.(511-513)atC>atT p.I171I SARC 11 72553810 72553810 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr11:72553810G>A c.1782C>T c.(1780-1782)atC>atT p.I594I SKCM 11 72549866 72549866 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr11:72549866C>T c.2193G>A c.(2191-2193)aaG>aaA p.K731K SKCM 11 72551959 72551959 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr11:72551959C>T c.2102G>A c.(2101-2103)aGg>aAg p.R701K SKCM 11 72552619 72552619 + Missense_Mutation SNP A A G TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr11:72552619A>G c.1936T>C c.(1936-1938)Tcc>Ccc p.S646P SKCM 11 72560874 72560874 + Missense_Mutation SNP C C T TCGA-ER-A19W-06A-41D-A23B-08 TCGA-ER-A19W-10A-01D-A23B-08 g.chr11:72560874C>T c.1369G>A c.(1369-1371)Gat>Aat p.D457N SKCM 11 72560920 72560920 + Silent SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr11:72560920G>T c.1323C>A c.(1321-1323)acC>acA p.T441T SKCM 11 72579048 72579048 + Silent SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr11:72579048G>A c.1170C>T c.(1168-1170)gcC>gcT p.A390A SKCM 11 72598571 72598571 + Missense_Mutation SNP G G C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr11:72598571G>C c.1090C>G c.(1090-1092)Cga>Gga p.R364G SKCM 11 72598615 72598615 + Missense_Mutation SNP A A C TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr11:72598615A>C c.1046T>G c.(1045-1047)cTa>cGa p.L349R SKCM 11 72600875 72600875 + Splice_Site SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr11:72600875C>T c.1040G>A c.(1039-1041)cGg>cAg p.R347Q SKCM 11 72695196 72695196 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr11:72695196G>A c.642C>T c.(640-642)acC>acT p.T214T SKCM 11 72794770 72794770 + Missense_Mutation SNP C C G TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr11:72794770C>G c.135G>C c.(133-135)aaG>aaC p.K45N

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 11 72554516 72554516 single base substitution C A 3_prime_UTR_variant BLCA-CN 11 72554516 72554516 single base substitution C A 5_prime_UTR_variant BLCA-CN 11 72554516 72554516 single base substitution C A missense_variant G366V 1097G>T BLCA-CN 11 72554516 72554516 single base substitution C A missense_variant G446V 1337G>T BLCA-CN 11 72554516 72554516 single base substitution C A missense_variant G502V 1505G>T BLCA-CN 11 72554516 72554516 single base substitution C A missense_variant G526V 1577G>T BRCA-EU 11 72544976 72544976 single base substitution A T downstream_gene_variant BRCA-EU 11 72544978 72544978 single base substitution T A downstream_gene_variant BRCA-EU 11 72544979 72544979 single base substitution T A downstream_gene_variant BRCA-EU 11 72545601 72545601 single base substitution A G downstream_gene_variant BRCA-EU 11 72546579 72546579 single base substitution G A downstream_gene_variant BRCA-EU 11 72546645 72546645 single base substitution C T downstream_gene_variant BRCA-EU 11 72547621 72547621 single base substitution A G downstream_gene_variant BRCA-EU 11 72549349 72549349 single base substitution C T 3_prime_UTR_variant BRCA-EU 11 72549349 72549349 single base substitution C T downstream_gene_variant BRCA-EU 11 72549625 72549625 single base substitution G C 3_prime_UTR_variant BRCA-EU 11 72549625 72549625 single base substitution G C downstream_gene_variant BRCA-EU 11 72550356 72550356 deletion of <=200bp A - downstream_gene_variant BRCA-EU 11 72550356 72550356 deletion of <=200bp A - intron_variant BRCA-EU 11 72551447 72551447 single base substitution G A downstream_gene_variant BRCA-EU 11 72551447 72551447 single base substitution G A intron_variant BRCA-EU 11 72551458 72551458 single base substitution G C downstream_gene_variant BRCA-EU 11 72551458 72551458 single base substitution G C intron_variant BRCA-EU 11 72551965 72551965 single base substitution G A downstream_gene_variant BRCA-EU 11 72551965 72551965 single base substitution G A missense_variant A563V 1688C>T BRCA-EU 11 72551965 72551965 single base substitution G A missense_variant A60V 179C>T BRCA-EU 11 72551965 72551965 single base substitution G A missense_variant A643V 1928C>T BRCA-EU 11 72551965 72551965 single base substitution G A missense_variant A699V 2096C>T BRCA-EU 11 72551965 72551965 single base substitution G A missense_variant A723V 2168C>T BRCA-EU 11 72552372 72552372 single base substitution G C downstream_gene_variant BRCA-EU 11 72552372 72552372 single base substitution G C intron_variant BRCA-EU 11 72552592 72552592 single base substitution G C downstream_gene_variant BRCA-EU 11 72552592 72552592 single base substitution G C missense_variant P16A 46C>G BRCA-EU 11 72552592 72552592 single base substitution G C missense_variant P519A 1555C>G BRCA-EU 11 72552592 72552592 single base substitution G C missense_variant P599A 1795C>G BRCA-EU 11 72552592 72552592 single base substitution G C missense_variant P655A 1963C>G BRCA-EU 11 72552592 72552592 single base substitution G C missense_variant P679A 2035C>G BRCA-EU 11 72553229 72553229 single base substitution C T downstream_gene_variant BRCA-EU 11 72553229 72553229 single base substitution C T intron_variant BRCA-EU 11 72554618 72554618 single base substitution G A intron_variant BRCA-EU 11 72554618 72554618 single base substitution G A upstream_gene_variant BRCA-EU 11 72555600 72555600 single base substitution G A intron_variant BRCA-EU 11 72555600 72555600 single base substitution G A upstream_gene_variant BRCA-EU 11 72556667 72556667 single base substitution A C intron_variant BRCA-EU 11 72556667 72556667 single base substitution A C upstream_gene_variant BRCA-EU 11 72557588 72557588 single base substitution T A intron_variant BRCA-EU 11 72557588 72557588 single base substitution T A upstream_gene_variant BRCA-EU 11 72561233 72561233 single base substitution G A intron_variant BRCA-EU 11 72561986 72561986 deletion of <=200bp A - intron_variant BRCA-EU 11 72562177 72562177 single base substitution A G intron_variant BRCA-EU 11 72563006 72563006 single base substitution C T intron_variant BRCA-EU 11 72563617 72563617 single base substitution G A intron_variant BRCA-EU 11 72566202 72566202 single base substitution C T intron_variant BRCA-EU 11 72566864 72566864 single base substitution G T intron_variant BRCA-EU 11 72567339 72567339 single base substitution G A intron_variant BRCA-EU 11 72568956 72568956 single base substitution G C intron_variant BRCA-EU 11 72569459 72569459 single base substitution A G intron_variant BRCA-EU 11 72571082 72571082 single base substitution C A intron_variant BRCA-EU 11 72573699 72573699 single base substitution C G intron_variant BRCA-EU 11 72574532 72574532 single base substitution G C intron_variant BRCA-EU 11 72576732 72576732 single base substitution T C intron_variant BRCA-EU 11 72576803 72576803 single base substitution T A intron_variant BRCA-EU 11 72576847 72576847 single base substitution G A intron_variant BRCA-EU 11 72577787 72577787 single base substitution G A intron_variant BRCA-EU 11 72578110 72578110 single base substitution G T intron_variant BRCA-EU 11 72578279 72578279 single base substitution G C intron_variant BRCA-EU 11 72578308 72578308 single base substitution G A intron_variant BRCA-EU 11 72578710 72578710 deletion of <=200bp A - intron_variant BRCA-EU 11 72578941 72578941 single base substitution G A exon_variant BRCA-EU 11 72578941 72578941 single base substitution G A missense_variant P290L 869C>T BRCA-EU 11 72578941 72578941 single base substitution G A missense_variant P370L 1109C>T BRCA-EU 11 72578941 72578941 single base substitution G A missense_variant P426L 1277C>T BRCA-EU 11 72578941 72578941 single base substitution G A missense_variant P450L 1349C>T BRCA-EU 11 72579319 72579319 single base substitution C G intron_variant BRCA-EU 11 72580323 72580323 single base substitution A T intron_variant BRCA-EU 11 72581051 72581051 single base substitution C A intron_variant BRCA-EU 11 72582053 72582053 single base substitution A T intron_variant BRCA-EU 11 72583118 72583118 single base substitution G A intron_variant BRCA-EU 11 72584139 72584139 single base substitution C G intron_variant BRCA-EU 11 72584282 72584282 single base substitution G A intron_variant BRCA-EU 11 72584436 72584436 single base substitution G A intron_variant BRCA-EU 11 72588192 72588192 single base substitution C A intron_variant BRCA-EU 11 72588195 72588195 single base substitution C G intron_variant BRCA-EU 11 72588325 72588325 single base substitution C T intron_variant BRCA-EU 11 72588649 72588649 single base substitution C G intron_variant BRCA-EU 11 72592180 72592180 single base substitution G A intron_variant BRCA-EU 11 72592311 72592311 single base substitution G C intron_variant BRCA-EU 11 72592421 72592421 single base substitution G C intron_variant BRCA-EU 11 72592453 72592453 single base substitution G T intron_variant BRCA-EU 11 72592461 72592461 single base substitution G A intron_variant BRCA-EU 11 72592511 72592511 single base substitution G C intron_variant BRCA-EU 11 72592537 72592537 single base substitution G A intron_variant BRCA-EU 11 72592538 72592538 single base substitution A T intron_variant BRCA-EU 11 72592755 72592755 single base substitution G C intron_variant BRCA-EU 11 72593195 72593195 single base substitution A G intron_variant BRCA-EU 11 72594050 72594060 deletion of <=200bp ATACACATATG - intron_variant BRCA-EU 11 72594376 72594376 single base substitution C G intron_variant BRCA-EU 11 72594421 72594421 single base substitution G C intron_variant BRCA-EU 11 72595027 72595027 insertion of <=200bp - A intron_variant BRCA-EU 11 72595151 72595151 single base substitution C T intron_variant BRCA-EU 11 72599042 72599042 single base substitution G C intron_variant BRCA-EU 11 72599042 72599042 single base substitution G C upstream_gene_variant BRCA-EU 11 72599354 72599354 single base substitution G A intron_variant BRCA-EU 11 72599354 72599354 single base substitution G A upstream_gene_variant BRCA-EU 11 72599577 72599590 deletion of <=200bp AAATGAAACAGAAA - intron_variant BRCA-EU 11 72599577 72599590 deletion of <=200bp AAATGAAACAGAAA - upstream_gene_variant BRCA-EU 11 72600349 72600365 deletion of <=200bp TATATTAATTCAACATA - intron_variant BRCA-EU 11 72600349 72600365 deletion of <=200bp TATATTAATTCAACATA - upstream_gene_variant BRCA-EU 11 72600446 72600446 single base substitution G C intron_variant BRCA-EU 11 72600446 72600446 single base substitution G C upstream_gene_variant BRCA-EU 11 72600755 72600755 single base substitution T G intron_variant BRCA-EU 11 72600755 72600755 single base substitution T G upstream_gene_variant BRCA-EU 11 72601483 72601483 single base substitution G A intron_variant BRCA-EU 11 72601483 72601483 single base substitution G A upstream_gene_variant BRCA-EU 11 72601575 72601575 single base substitution T C intron_variant BRCA-EU 11 72601575 72601575 single base substitution T C upstream_gene_variant BRCA-EU 11 72602985 72602985 insertion of <=200bp - A intron_variant BRCA-EU 11 72602985 72602985 insertion of <=200bp - A upstream_gene_variant BRCA-EU 11 72603890 72603890 single base substitution C G intron_variant BRCA-EU 11 72607077 72607077 insertion of <=200bp - T intron_variant BRCA-EU 11 72607988 72607988 single base substitution C A intron_variant BRCA-EU 11 72608306 72608306 single base substitution T C intron_variant BRCA-EU 11 72608923 72608923 single base substitution C T intron_variant BRCA-EU 11 72611979 72611979 single base substitution T C intron_variant BRCA-EU 11 72612234 72612234 single base substitution C T intron_variant BRCA-EU 11 72612781 72612781 single base substitution G C intron_variant BRCA-EU 11 72615181 72615181 single base substitution G A intron_variant BRCA-EU 11 72617286 72617286 single base substitution C A intron_variant BRCA-EU 11 72617910 72617910 single base substitution C G intron_variant BRCA-EU 11 72619268 72619268 single base substitution C A intron_variant BRCA-EU 11 72619508 72619528 deletion of <=200bp TTTCCATAGCGGTTGTACTAA - intron_variant BRCA-EU 11 72622918 72622918 single base substitution C G intron_variant BRCA-EU 11 72625931 72625931 single base substitution G T intron_variant BRCA-EU 11 72626862 72626862 single base substitution C G intron_variant BRCA-EU 11 72628142 72628142 single base substitution G A intron_variant BRCA-EU 11 72628953 72628953 single base substitution T A intron_variant BRCA-EU 11 72629436 72629436 single base substitution T C intron_variant BRCA-EU 11 72630397 72630397 single base substitution A T intron_variant BRCA-EU 11 72631207 72631207 single base substitution G A intron_variant BRCA-EU 11 72632290 72632290 single base substitution A C intron_variant BRCA-EU 11 72635005 72635005 single base substitution A C intron_variant BRCA-EU 11 72636355 72636355 single base substitution G C intron_variant BRCA-EU 11 72637070 72637070 single base substitution G A intron_variant BRCA-EU 11 72638312 72638312 single base substitution T G intron_variant BRCA-EU 11 72639477 72639477 single base substitution A C intron_variant BRCA-EU 11 72639810 72639810 single base substitution A G intron_variant BRCA-EU 11 72641173 72641198 deletion of <=200bp TTGAGGGGCCAGGAGGAAAAAGCACT - intron_variant BRCA-EU 11 72641775 72641775 single base substitution G A intron_variant BRCA-EU 11 72643153 72643153 single base substitution G A intron_variant BRCA-EU 11 72644421 72644421 single base substitution G T intron_variant BRCA-EU 11 72646149 72646149 single base substitution G A intron_variant BRCA-EU 11 72646153 72646153 deletion of <=200bp A - intron_variant BRCA-EU 11 72647279 72647279 single base substitution T C intron_variant BRCA-EU 11 72647348 72647348 single base substitution A T intron_variant BRCA-EU 11 72650429 72650454 deletion of <=200bp TTTTAAATTATTAAACAAAAATTAAG - intron_variant BRCA-EU 11 72651103 72651103 single base substitution G C intron_variant BRCA-EU 11 72651719 72651719 single base substitution C T intron_variant BRCA-EU 11 72652268 72652268 single base substitution G A intron_variant BRCA-EU 11 72652518 72652518 single base substitution C A intron_variant BRCA-EU 11 72653758 72653758 single base substitution T C intron_variant BRCA-EU 11 72655633 72655633 single base substitution T G intron_variant BRCA-EU 11 72656673 72656673 single base substitution G A intron_variant BRCA-EU 11 72657270 72657270 single base substitution G A intron_variant BRCA-EU 11 72659064 72659064 insertion of <=200bp - T intron_variant BRCA-EU 11 72659119 72659119 single base substitution C T intron_variant BRCA-EU 11 72659929 72659929 single base substitution C G intron_variant BRCA-EU 11 72664026 72664026 single base substitution T C intron_variant BRCA-EU 11 72664050 72664050 single base substitution G C intron_variant BRCA-EU 11 72666125 72666126 deletion of <=200bp CT - intron_variant BRCA-EU 11 72666482 72666482 single base substitution T G intron_variant BRCA-EU 11 72667696 72667696 single base substitution G C intron_variant BRCA-EU 11 72668046 72668046 single base substitution G C intron_variant BRCA-EU 11 72668472 72668472 single base substitution C T intron_variant BRCA-EU 11 72669163 72669163 single base substitution G A intron_variant BRCA-EU 11 72669279 72669279 single base substitution C A intron_variant BRCA-EU 11 72669562 72669562 insertion of <=200bp - A intron_variant BRCA-EU 11 72670605 72670605 single base substitution T C intron_variant BRCA-EU 11 72670763 72670763 single base substitution G A intron_variant BRCA-EU 11 72671756 72671756 single base substitution C G intron_variant BRCA-EU 11 72673051 72673051 single base substitution T C intron_variant BRCA-EU 11 72673509 72673509 single base substitution G A intron_variant BRCA-EU 11 72673639 72673639 single base substitution A T intron_variant BRCA-EU 11 72674215 72674215 single base substitution T A intron_variant BRCA-EU 11 72674765 72674765 single base substitution G T intron_variant BRCA-EU 11 72675203 72675203 single base substitution T C intron_variant BRCA-EU 11 72675452 72675452 single base substitution T C intron_variant BRCA-EU 11 72676165 72676165 single base substitution G C intron_variant BRCA-EU 11 72678474 72678474 deletion of <=200bp A - intron_variant BRCA-EU 11 72678674 72678674 single base substitution G A intron_variant BRCA-EU 11 72680153 72680153 single base substitution C T intron_variant BRCA-EU 11 72683369 72683369 single base substitution T C intron_variant BRCA-EU 11 72683614 72683614 single base substitution G C intron_variant BRCA-EU 11 72684367 72684367 single base substitution G A intron_variant BRCA-EU 11 72684464 72684464 insertion of <=200bp - AT intron_variant BRCA-EU 11 72688342 72688342 single base substitution C A intron_variant BRCA-EU 11 72689004 72689004 single base substitution C T intron_variant BRCA-EU 11 72689760 72689760 single base substitution A G intron_variant BRCA-EU 11 72690009 72690009 single base substitution C T downstream_gene_variant BRCA-EU 11 72690009 72690009 single base substitution C T intron_variant BRCA-EU 11 72690558 72690558 single base substitution C A downstream_gene_variant BRCA-EU 11 72690558 72690558 single base substitution C A intron_variant BRCA-EU 11 72691547 72691547 single base substitution A C downstream_gene_variant BRCA-EU 11 72691547 72691547 single base substitution A C intron_variant BRCA-EU 11 72692170 72692170 single base substitution G T downstream_gene_variant BRCA-EU 11 72692170 72692170 single base substitution G T intron_variant BRCA-EU 11 72693904 72693904 deletion of <=200bp T - downstream_gene_variant BRCA-EU 11 72693904 72693904 deletion of <=200bp T - intron_variant BRCA-EU 11 72694747 72694747 single base substitution C T downstream_gene_variant BRCA-EU 11 72694747 72694747 single base substitution C T intron_variant BRCA-EU 11 72695289 72695289 single base substitution G A downstream_gene_variant BRCA-EU 11 72695289 72695289 single base substitution G A intron_variant BRCA-EU 11 72695752 72695752 single base substitution A G downstream_gene_variant BRCA-EU 11 72695752 72695752 single base substitution A G intron_variant BRCA-EU 11 72695760 72695760 single base substitution C A downstream_gene_variant BRCA-EU 11 72695760 72695760 single base substitution C A intron_variant BRCA-EU 11 72696158 72696158 single base substitution A G downstream_gene_variant BRCA-EU 11 72696158 72696158 single base substitution A G synonymous_variant S119S 357T>C BRCA-EU 11 72696158 72696158 single base substitution A G synonymous_variant S15S 45T>C BRCA-EU 11 72696158 72696158 single base substitution A G synonymous_variant S175S 525T>C BRCA-EU 11 72696158 72696158 single base substitution A G synonymous_variant S17S 51T>C BRCA-EU 11 72697536 72697536 single base substitution G A downstream_gene_variant BRCA-EU 11 72697536 72697536 single base substitution G A intron_variant BRCA-EU 11 72698363 72698363 single base substitution A G downstream_gene_variant BRCA-EU 11 72698363 72698363 single base substitution A G intron_variant BRCA-EU 11 72698735 72698735 single base substitution G A downstream_gene_variant BRCA-EU 11 72698735 72698735 single base substitution G A intron_variant BRCA-EU 11 72699434 72699434 deletion of <=200bp A - downstream_gene_variant BRCA-EU 11 72699434 72699434 deletion of <=200bp A - intron_variant BRCA-EU 11 72699624 72699624 single base substitution C T downstream_gene_variant BRCA-EU 11 72699624 72699624 single base substitution C T intron_variant BRCA-EU 11 72701967 72701967 single base substitution G T intron_variant BRCA-EU 11 72701967 72701967 single base substitution G T upstream_gene_variant BRCA-EU 11 72704274 72704274 single base substitution G A intron_variant BRCA-EU 11 72704274 72704274 single base substitution G A upstream_gene_variant BRCA-EU 11 72708384 72708384 single base substitution G T intron_variant BRCA-EU 11 72709397 72709397 single base substitution C A intron_variant BRCA-EU 11 72711355 72711355 single base substitution T G intron_variant BRCA-EU 11 72714550 72714550 single base substitution G A intron_variant BRCA-EU 11 72716164 72716164 single base substitution G C intron_variant BRCA-EU 11 72717545 72717545 single base substitution A G intron_variant BRCA-EU 11 72718830 72718830 single base substitution C T intron_variant BRCA-EU 11 72719467 72719467 single base substitution T A intron_variant BRCA-EU 11 72724940 72724940 single base substitution G C intron_variant BRCA-EU 11 72726562 72726562 single base substitution C T intron_variant BRCA-EU 11 72727094 72727094 single base substitution T A intron_variant BRCA-EU 11 72727484 72727484 single base substitution G C intron_variant BRCA-EU 11 72728564 72728564 single base substitution C G intron_variant BRCA-EU 11 72729294 72729294 single base substitution G C intron_variant BRCA-EU 11 72729449 72729449 single base substitution C T intron_variant BRCA-EU 11 72730022 72730022 single base substitution G C intron_variant BRCA-EU 11 72730552 72730552 single base substitution G A intron_variant BRCA-EU 11 72730609 72730609 single base substitution C T intron_variant BRCA-EU 11 72730707 72730707 single base substitution C G intron_variant BRCA-EU 11 72730972 72730972 insertion of <=200bp - T intron_variant BRCA-EU 11 72730979 72730979 single base substitution C G intron_variant BRCA-EU 11 72731166 72731166 single base substitution G A intron_variant BRCA-EU 11 72733173 72733173 single base substitution C T intron_variant BRCA-EU 11 72734685 72734685 single base substitution G C intron_variant BRCA-EU 11 72736011 72736011 single base substitution G A intron_variant BRCA-EU 11 72736070 72736070 single base substitution C T intron_variant BRCA-EU 11 72736833 72736833 single base substitution T C intron_variant BRCA-EU 11 72737478 72737478 single base substitution T C intron_variant BRCA-EU 11 72740632 72740632 single base substitution A T intron_variant BRCA-EU 11 72740839 72740839 single base substitution G A intron_variant BRCA-EU 11 72741439 72741439 single base substitution G A intron_variant BRCA-EU 11 72741582 72741582 single base substitution G A intron_variant BRCA-EU 11 72742135 72742135 single base substitution G A intron_variant BRCA-EU 11 72742898 72742898 single base substitution T C intron_variant BRCA-EU 11 72743278 72743278 insertion of <=200bp - T intron_variant BRCA-EU 11 72745166 72745166 single base substitution G A intron_variant BRCA-EU 11 72746994 72746994 single base substitution G A intron_variant BRCA-EU 11 72747987 72747987 single base substitution G A intron_variant BRCA-EU 11 72748244 72748244 single base substitution C A intron_variant BRCA-EU 11 72749641 72749641 single base substitution A T intron_variant BRCA-EU 11 72754382 72754382 single base substitution G A intron_variant BRCA-EU 11 72754626 72754626 single base substitution G A intron_variant BRCA-EU 11 72756123 72756123 single base substitution A G intron_variant BRCA-EU 11 72756334 72756334 single base substitution G T intron_variant BRCA-EU 11 72757726 72757726 single base substitution G T intron_variant BRCA-EU 11 72758814 72758814 deletion of <=200bp T - intron_variant BRCA-EU 11 72760025 72760025 single base substitution T G intron_variant BRCA-EU 11 72763399 72763399 single base substitution C T intron_variant BRCA-EU 11 72764459 72764459 single base substitution C G intron_variant BRCA-EU 11 72765602 72765602 single base substitution G T intron_variant BRCA-EU 11 72766575 72766575 single base substitution A G intron_variant BRCA-EU 11 72767106 72767106 deletion of <=200bp A - intron_variant BRCA-EU 11 72767401 72767401 deletion of <=200bp T - intron_variant BRCA-EU 11 72767972 72767972 insertion of <=200bp - A intron_variant BRCA-EU 11 72768045 72768045 single base substitution G A intron_variant BRCA-EU 11 72768193 72768193 single base substitution G C intron_variant BRCA-EU 11 72769504 72769504 single base substitution T C intron_variant BRCA-EU 11 72771107 72771107 single base substitution G C intron_variant BRCA-EU 11 72771624 72771624 single base substitution G C intron_variant BRCA-EU 11 72772840 72772840 single base substitution G C intron_variant BRCA-EU 11 72773780 72773780 single base substitution C G intron_variant BRCA-EU 11 72774284 72774284 single base substitution G A intron_variant BRCA-EU 11 72774661 72774661 deletion of <=200bp A - intron_variant BRCA-EU 11 72777459 72777459 single base substitution A T intron_variant BRCA-EU 11 72777487 72777487 single base substitution A G intron_variant BRCA-EU 11 72777519 72777519 single base substitution C T intron_variant BRCA-EU 11 72777968 72777968 single base substitution A G intron_variant BRCA-EU 11 72778214 72778214 single base substitution T A intron_variant BRCA-EU 11 72778830 72778830 single base substitution C A intron_variant BRCA-EU 11 72780004 72780004 single base substitution G C intron_variant BRCA-EU 11 72782677 72782677 single base substitution C G intron_variant BRCA-EU 11 72782723 72782723 single base substitution C T intron_variant BRCA-EU 11 72786073 72786073 single base substitution G C intron_variant BRCA-EU 11 72786768 72786768 single base substitution G C intron_variant BRCA-EU 11 72787015 72787015 single base substitution T C intron_variant BRCA-EU 11 72788015 72788015 single base substitution C T intron_variant BRCA-EU 11 72789930 72789930 deletion of <=200bp T - intron_variant BRCA-EU 11 72792973 72792973 single base substitution C T intron_variant BRCA-EU 11 72794402 72794402 single base substitution C A intron_variant BRCA-EU 11 72796275 72796275 single base substitution T A intron_variant BRCA-EU 11 72796327 72796327 single base substitution G C intron_variant BRCA-EU 11 72797028 72797028 single base substitution G A intron_variant BRCA-EU 11 72797238 72797238 single base substitution G C intron_variant BRCA-EU 11 72797500 72797500 single base substitution G A intron_variant BRCA-EU 11 72798233 72798233 single base substitution C G intron_variant BRCA-EU 11 72798651 72798651 single base substitution G A intron_variant BRCA-EU 11 72798683 72798683 single base substitution G A intron_variant BRCA-EU 11 72798808 72798808 insertion of <=200bp - AAATAAACAGCCTAC intron_variant BRCA-EU 11 72798982 72798982 single base substitution G A intron_variant BRCA-EU 11 72799276 72799276 single base substitution G A intron_variant BRCA-EU 11 72800819 72800819 single base substitution C A intron_variant BRCA-EU 11 72802621 72802621 single base substitution A G intron_variant BRCA-EU 11 72803703 72803703 single base substitution G C intron_variant BRCA-EU 11 72805366 72805366 single base substitution G T intron_variant BRCA-EU 11 72805920 72805920 single base substitution C T intron_variant BRCA-EU 11 72808517 72808517 single base substitution C A intron_variant BRCA-EU 11 72809217 72809217 single base substitution C G intron_variant BRCA-EU 11 72810301 72810301 single base substitution G C intron_variant BRCA-EU 11 72811643 72811643 single base substitution G A intron_variant BRCA-EU 11 72817097 72817097 single base substitution G C intron_variant BRCA-EU 11 72817207 72817207 single base substitution G A intron_variant BRCA-EU 11 72817370 72817370 single base substitution G C intron_variant BRCA-EU 11 72817656 72817656 single base substitution G C intron_variant BRCA-EU 11 72817911 72817911 single base substitution T C intron_variant BRCA-EU 11 72817942 72817942 single base substitution G A intron_variant BRCA-EU 11 72818441 72818441 single base substitution G C intron_variant BRCA-EU 11 72818619 72818619 single base substitution C T intron_variant BRCA-EU 11 72820576 72820576 single base substitution C A intron_variant BRCA-EU 11 72821383 72821383 single base substitution C T intron_variant BRCA-EU 11 72823198 72823198 single base substitution T A intron_variant BRCA-EU 11 72824374 72824374 single base substitution G A intron_variant BRCA-EU 11 72826345 72826345 single base substitution G C intron_variant BRCA-EU 11 72826607 72826607 single base substitution C T intron_variant BRCA-EU 11 72830653 72830653 single base substitution G A intron_variant BRCA-EU 11 72832437 72832437 single base substitution G C intron_variant BRCA-EU 11 72832573 72832573 single base substitution G C intron_variant BRCA-EU 11 72834520 72834520 single base substitution C A intron_variant BRCA-EU 11 72834527 72834527 single base substitution C T intron_variant BRCA-EU 11 72835788 72835788 single base substitution G A intron_variant BRCA-EU 11 72836261 72836261 single base substitution C T intron_variant BRCA-EU 11 72836645 72836645 single base substitution G T intron_variant BRCA-EU 11 72836694 72836694 single base substitution G A intron_variant BRCA-EU 11 72836751 72836751 deletion of <=200bp A - intron_variant BRCA-EU 11 72837286 72837286 single base substitution G A intron_variant BRCA-EU 11 72837684 72837684 single base substitution G C intron_variant BRCA-EU 11 72838600 72838600 single base substitution C T intron_variant BRCA-EU 11 72840474 72840474 single base substitution C T intron_variant BRCA-EU 11 72841252 72841252 single base substitution C T intron_variant BRCA-EU 11 72842092 72842092 single base substitution C T intron_variant BRCA-EU 11 72842165 72842165 single base substitution G T intron_variant BRCA-EU 11 72844130 72844130 single base substitution G C intron_variant BRCA-EU 11 72844624 72844624 single base substitution C G intron_variant BRCA-EU 11 72845038 72845038 deletion of <=200bp A - intron_variant BRCA-EU 11 72845370 72845370 single base substitution C T intron_variant BRCA-EU 11 72846034 72846034 single base substitution G C intron_variant BRCA-EU 11 72847605 72847605 deletion of <=200bp A - intron_variant BRCA-EU 11 72848083 72848083 deletion of <=200bp A - intron_variant BRCA-EU 11 72848083 72848083 insertion of <=200bp - A intron_variant BRCA-EU 11 72849322 72849322 single base substitution G C intron_variant BRCA-EU 11 72850154 72850154 single base substitution G C intron_variant BRCA-EU 11 72851089 72851089 single base substitution G A 5_prime_UTR_variant BRCA-EU 11 72851089 72851089 single base substitution G A intron_variant BRCA-EU 11 72851089 72851089 single base substitution G A missense_variant L15F 43C>T BRCA-EU 11 72851089 72851089 single base substitution G A missense_variant L36F 106C>T BRCA-EU 11 72852985 72852985 single base substitution G C 5_prime_UTR_variant BRCA-EU 11 72852985 72852985 single base substitution G C upstream_gene_variant BRCA-EU 11 72853450 72853450 single base substitution C A upstream_gene_variant BRCA-EU 11 72853503 72853503 single base substitution G A upstream_gene_variant BRCA-EU 11 72853506 72853506 single base substitution C T upstream_gene_variant BRCA-EU 11 72854976 72854976 single base substitution A T upstream_gene_variant BRCA-EU 11 72855849 72855849 single base substitution G C upstream_gene_variant BRCA-FR 11 72573699 72573699 single base substitution C G intron_variant BRCA-FR 11 72601483 72601483 single base substitution G A intron_variant BRCA-FR 11 72601483 72601483 single base substitution G A upstream_gene_variant BRCA-FR 11 72612781 72612781 single base substitution G C intron_variant BRCA-FR 11 72636355 72636355 single base substitution G C intron_variant BRCA-FR 11 72637070 72637070 single base substitution G A intron_variant BRCA-FR 11 72643153 72643153 single base substitution G A intron_variant BRCA-FR 11 72656673 72656673 single base substitution G A intron_variant BRCA-FR 11 72667283 72667283 single base substitution G T intron_variant BRCA-FR 11 72669163 72669163 single base substitution G A intron_variant BRCA-FR 11 72676165 72676165 single base substitution G C intron_variant BRCA-FR 11 72685060 72685060 single base substitution A G intron_variant BRCA-FR 11 72685853 72685853 single base substitution A T intron_variant BRCA-FR 11 72688342 72688342 single base substitution C A intron_variant BRCA-FR 11 72691421 72691421 single base substitution G C downstream_gene_variant BRCA-FR 11 72691421 72691421 single base substitution G C intron_variant BRCA-FR 11 72694747 72694747 single base substitution C T downstream_gene_variant BRCA-FR 11 72694747 72694747 single base substitution C T intron_variant BRCA-FR 11 72719467 72719467 single base substitution T A intron_variant BRCA-FR 11 72724940 72724940 single base substitution G C intron_variant BRCA-FR 11 72727393 72727393 single base substitution C A intron_variant BRCA-FR 11 72730022 72730022 single base substitution G C intron_variant BRCA-FR 11 72730609 72730609 single base substitution C T intron_variant BRCA-FR 11 72730707 72730707 single base substitution C G intron_variant BRCA-FR 11 72742135 72742135 single base substitution G A intron_variant BRCA-FR 11 72772799 72772799 single base substitution G A intron_variant BRCA-FR 11 72797500 72797500 single base substitution G A intron_variant BRCA-FR 11 72803703 72803703 single base substitution G C intron_variant BRCA-FR 11 72817097 72817097 single base substitution G C intron_variant BRCA-FR 11 72817942 72817942 single base substitution G A intron_variant BRCA-FR 11 72822267 72822267 single base substitution C T intron_variant BRCA-FR 11 72824456 72824456 single base substitution T C intron_variant BRCA-FR 11 72826345 72826345 single base substitution G C intron_variant BRCA-FR 11 72826607 72826607 single base substitution C T intron_variant BRCA-FR 11 72832437 72832437 single base substitution G C intron_variant BRCA-FR 11 72832573 72832573 single base substitution G C intron_variant BRCA-FR 11 72838098 72838098 single base substitution A C intron_variant BRCA-FR 11 72838524 72838524 single base substitution G A intron_variant BRCA-UK 11 72557588 72557588 single base substitution T A intron_variant BRCA-UK 11 72557588 72557588 single base substitution T A upstream_gene_variant BRCA-UK 11 72569510 72569510 single base substitution G T intron_variant BRCA-UK 11 72569560 72569560 single base substitution G A intron_variant BRCA-UK 11 72584171 72584171 single base substitution G C intron_variant BRCA-UK 11 72588325 72588325 single base substitution C T intron_variant BRCA-UK 11 72620981 72620981 single base substitution G A intron_variant BRCA-UK 11 72626648 72626648 single base substitution G A intron_variant BRCA-UK 11 72639810 72639810 single base substitution A G intron_variant BRCA-UK 11 72642631 72642631 single base substitution G A intron_variant BRCA-UK 11 72642759 72642759 single base substitution G C intron_variant BRCA-UK 11 72659992 72659992 single base substitution G C intron_variant BRCA-UK 11 72664026 72664026 single base substitution T C intron_variant BRCA-UK 11 72673181 72673181 single base substitution C T intron_variant BRCA-UK 11 72689717 72689717 single base substitution G C intron_variant BRCA-UK 11 72706771 72706771 single base substitution G C intron_variant BRCA-UK 11 72716164 72716164 single base substitution G C intron_variant BRCA-UK 11 72734025 72734025 single base substitution G C intron_variant BRCA-UK 11 72740839 72740839 single base substitution G A intron_variant BRCA-UK 11 72742898 72742898 single base substitution T C intron_variant BRCA-UK 11 72754197 72754197 single base substitution C T intron_variant BRCA-UK 11 72761273 72761273 single base substitution G C intron_variant BRCA-UK 11 72775245 72775245 single base substitution G A intron_variant BRCA-UK 11 72851089 72851089 single base substitution G A 5_prime_UTR_variant BRCA-UK 11 72851089 72851089 single base substitution G A intron_variant BRCA-UK 11 72851089 72851089 single base substitution G A missense_variant L15F 43C>T BRCA-UK 11 72851089 72851089 single base substitution G A missense_variant L36F 106C>T BRCA-US 11 72552500 72552500 single base substitution G A downstream_gene_variant BRCA-US 11 72552500 72552500 single base substitution G A splice_region_variant BRCA-US 11 72554333 72554333 deletion of <=200bp T - 3_prime_UTR_variant BRCA-US 11 72554333 72554333 deletion of <=200bp T - 5_prime_UTR_variant BRCA-US 11 72554333 72554333 deletion of <=200bp T - frameshift_variant K387 BRCA-US 11 72554333 72554333 deletion of <=200bp T - frameshift_variant K467 BRCA-US 11 72554333 72554333 deletion of <=200bp T - frameshift_variant K523 BRCA-US 11 72554333 72554333 deletion of <=200bp T - frameshift_variant K547 BRCA-US 11 72712106 72712106 single base substitution C G intron_variant BRCA-US 11 72712106 72712106 single base substitution C G missense_variant E106Q 316G>C BRCA-US 11 72712106 72712106 single base substitution C G missense_variant E50Q 148G>C BRCA-US 11 72712106 72712106 single base substitution C G missense_variant E85Q 253G>C BTCA-JP 11 72549939 72549939 single base substitution G A downstream_gene_variant BTCA-JP 11 72549939 72549939 single base substitution G A intron_variant BTCA-JP 11 72554529 72554529 single base substitution C T 3_prime_UTR_variant BTCA-JP 11 72554529 72554529 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 11 72554529 72554529 single base substitution C T missense_variant V362M 1084G>A BTCA-JP 11 72554529 72554529 single base substitution C T missense_variant V442M 1324G>A BTCA-JP 11 72554529 72554529 single base substitution C T missense_variant V498M 1492G>A BTCA-JP 11 72554529 72554529 single base substitution C T missense_variant V522M 1564G>A BTCA-JP 11 72598604 72598604 single base substitution C G exon_variant BTCA-JP 11 72598604 72598604 single base substitution C G missense_variant E217Q 649G>C BTCA-JP 11 72598604 72598604 single base substitution C G missense_variant E297Q 889G>C BTCA-JP 11 72598604 72598604 single base substitution C G missense_variant E353Q 1057G>C BTCA-JP 11 72598604 72598604 single base substitution C G missense_variant E377Q 1129G>C BTCA-JP 11 72695238 72695238 single base substitution A G downstream_gene_variant BTCA-JP 11 72695238 72695238 single base substitution A G synonymous_variant C144C 432T>C BTCA-JP 11 72695238 72695238 single base substitution A G synonymous_variant C200C 600T>C BTCA-JP 11 72695238 72695238 single base substitution A G synonymous_variant C40C 120T>C BTCA-JP 11 72695238 72695238 single base substitution A G synonymous_variant C42C 126T>C BTCA-JP 11 72794604 72794604 single base substitution A G intron_variant CESC-US 11 72551993 72551993 single base substitution G A downstream_gene_variant CESC-US 11 72551993 72551993 single base substitution G A missense_variant H51Y 151C>T CESC-US 11 72551993 72551993 single base substitution G A missense_variant H554Y 1660C>T CESC-US 11 72551993 72551993 single base substitution G A missense_variant H634Y 1900C>T CESC-US 11 72551993 72551993 single base substitution G A missense_variant H690Y 2068C>T CESC-US 11 72551993 72551993 single base substitution G A missense_variant H714Y 2140C>T CESC-US 11 72553785 72553785 single base substitution C T downstream_gene_variant CESC-US 11 72553785 72553785 single base substitution C T intron_variant CESC-US 11 72553785 72553785 single base substitution C T missense_variant D467N 1399G>A CESC-US 11 72553785 72553785 single base substitution C T missense_variant D547N 1639G>A CESC-US 11 72553785 72553785 single base substitution C T missense_variant D603N 1807G>A CESC-US 11 72553785 72553785 single base substitution C T missense_variant D627N 1879G>A CESC-US 11 72554398 72554398 single base substitution C T intron_variant CLLE-ES 11 72554525 72554525 single base substitution A G 3_prime_UTR_variant CLLE-ES 11 72554525 72554525 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant CLLE-ES 11 72554525 72554525 single base substitution A G missense_variant I363T 1088T>C CLLE-ES 11 72554525 72554525 single base substitution A G missense_variant I443T 1328T>C CLLE-ES 11 72554525 72554525 single base substitution A G missense_variant I499T 1496T>C CLLE-ES 11 72554525 72554525 single base substitution A G missense_variant I523T 1568T>C CLLE-ES 11 72559945 72559945 single base substitution T A intron_variant CLLE-ES 11 72581242 72581242 single base substitution C G intron_variant CLLE-ES 11 72587582 72587582 insertion of <=200bp - A intron_variant CLLE-ES 11 72589250 72589250 single base substitution G C intron_variant CLLE-ES 11 72590991 72590991 single base substitution C A intron_variant CLLE-ES 11 72621773 72621773 single base substitution T G intron_variant CLLE-ES 11 72624878 72624878 single base substitution A C intron_variant CLLE-ES 11 72661957 72661957 single base substitution T A intron_variant CLLE-ES 11 72662025 72662025 single base substitution T C intron_variant CLLE-ES 11 72662657 72662657 single base substitution C T intron_variant CLLE-ES 11 72677682 72677685 deletion of <=200bp ATAT - intron_variant CLLE-ES 11 72698298 72698298 single base substitution T A downstream_gene_variant CLLE-ES 11 72698298 72698298 single base substitution T A intron_variant CLLE-ES 11 72727511 72727511 single base substitution A C intron_variant CLLE-ES 11 72755168 72755168 single base substitution T C intron_variant CLLE-ES 11 72758999 72758999 single base substitution T C intron_variant CLLE-ES 11 72792746 72792746 single base substitution T A intron_variant CLLE-ES 11 72811287 72811290 deletion of <=200bp CCTC - intron_variant CLLE-ES 11 72846709 72846709 single base substitution T A intron_variant COAD-US 11 72552500 72552500 single base substitution G A downstream_gene_variant COAD-US 11 72552500 72552500 single base substitution G A splice_region_variant COAD-US 11 72554353 72554353 single base substitution T C 3_prime_UTR_variant COAD-US 11 72554353 72554353 single base substitution T C 5_prime_UTR_variant COAD-US 11 72554353 72554353 single base substitution T C synonymous_variant Q380Q 1140A>G COAD-US 11 72554353 72554353 single base substitution T C synonymous_variant Q460Q 1380A>G COAD-US 11 72554353 72554353 single base substitution T C synonymous_variant Q516Q 1548A>G COAD-US 11 72554353 72554353 single base substitution T C synonymous_variant Q540Q 1620A>G COAD-US 11 72560905 72560905 single base substitution G A exon_variant COAD-US 11 72560905 72560905 single base substitution G A synonymous_variant G310G 930C>T COAD-US 11 72560905 72560905 single base substitution G A synonymous_variant G390G 1170C>T COAD-US 11 72560905 72560905 single base substitution G A synonymous_variant G446G 1338C>T COAD-US 11 72560905 72560905 single base substitution G A synonymous_variant G470G 1410C>T COAD-US 11 72579048 72579048 single base substitution G A exon_variant COAD-US 11 72579048 72579048 single base substitution G A synonymous_variant A254A 762C>T COAD-US 11 72579048 72579048 single base substitution G A synonymous_variant A334A 1002C>T COAD-US 11 72579048 72579048 single base substitution G A synonymous_variant A390A 1170C>T COAD-US 11 72579048 72579048 single base substitution G A synonymous_variant A414A 1242C>T COAD-US 11 72613604 72613604 single base substitution G A missense_variant P143L 428C>T COAD-US 11 72613604 72613604 single base substitution G A missense_variant P247L 740C>T COAD-US 11 72613604 72613604 single base substitution G A missense_variant P303L 908C>T COAD-US 11 72613652 72613652 deletion of <=200bp A - frameshift_variant L127 COAD-US 11 72613652 72613652 deletion of <=200bp A - frameshift_variant L231 COAD-US 11 72613652 72613652 deletion of <=200bp A - frameshift_variant L287 COAD-US 11 72712059 72712059 single base substitution G A intron_variant COAD-US 11 72712059 72712059 single base substitution G A synonymous_variant S100S 300C>T COAD-US 11 72712059 72712059 single base substitution G A synonymous_variant S121S 363C>T COAD-US 11 72712059 72712059 single base substitution G A synonymous_variant S65S 195C>T COCA-CN 11 72551797 72551797 single base substitution C A downstream_gene_variant COCA-CN 11 72551797 72551797 single base substitution C A intron_variant COCA-CN 11 72552411 72552411 single base substitution C A downstream_gene_variant COCA-CN 11 72552411 72552411 single base substitution C A intron_variant COCA-CN 11 72553607 72553607 single base substitution C A downstream_gene_variant COCA-CN 11 72553607 72553607 single base substitution C A intron_variant COCA-CN 11 72565960 72565960 single base substitution A T intron_variant COCA-CN 11 72599285 72599285 single base substitution A G intron_variant COCA-CN 11 72599285 72599285 single base substitution A G upstream_gene_variant COCA-CN 11 72626029 72626029 single base substitution G T intron_variant COCA-CN 11 72627080 72627080 single base substitution C T intron_variant COCA-CN 11 72632765 72632765 single base substitution C T intron_variant COCA-CN 11 72712096 72712096 single base substitution T G intron_variant COCA-CN 11 72712096 72712096 single base substitution T G missense_variant K109T 326A>C COCA-CN 11 72712096 72712096 single base substitution T G missense_variant K53T 158A>C COCA-CN 11 72712096 72712096 single base substitution T G missense_variant K88T 263A>C COCA-CN 11 72726775 72726775 single base substitution G C intron_variant COCA-CN 11 72733476 72733476 single base substitution G A intron_variant COCA-CN 11 72758353 72758353 single base substitution C T intron_variant COCA-CN 11 72794603 72794603 single base substitution A G intron_variant COCA-CN 11 72794604 72794604 single base substitution A G intron_variant COCA-CN 11 72794605 72794605 single base substitution A G intron_variant COCA-CN 11 72851158 72851158 single base substitution C A 5_prime_UTR_variant COCA-CN 11 72851158 72851158 single base substitution C A intron_variant COCA-CN 11 72851158 72851158 single base substitution C A stop_gained E13* 37G>T COCA-CN 11 72851158 72851158 single base substitution C A upstream_gene_variant EOPC-DE 11 72591169 72591169 single base substitution C A intron_variant EOPC-DE 11 72619821 72619821 single base substitution C T intron_variant EOPC-DE 11 72630226 72630226 single base substitution A T intron_variant EOPC-DE 11 72635876 72635876 single base substitution T C intron_variant EOPC-DE 11 72703868 72703868 single base substitution A T intron_variant EOPC-DE 11 72703868 72703868 single base substitution A T upstream_gene_variant EOPC-DE 11 72703877 72703877 single base substitution C G intron_variant EOPC-DE 11 72703877 72703877 single base substitution C G upstream_gene_variant EOPC-DE 11 72703890 72703890 single base substitution T C intron_variant EOPC-DE 11 72703890 72703890 single base substitution T C upstream_gene_variant EOPC-DE 11 72741220 72741220 single base substitution C T intron_variant EOPC-DE 11 72758671 72758671 single base substitution A C intron_variant ESAD-UK 11 72544794 72544794 single base substitution C T downstream_gene_variant ESAD-UK 11 72544977 72544978 deletion of <=200bp AT - downstream_gene_variant ESAD-UK 11 72545924 72545924 single base substitution C G downstream_gene_variant ESAD-UK 11 72545937 72545937 single base substitution C A downstream_gene_variant ESAD-UK 11 72548181 72548181 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 11 72548181 72548181 insertion of <=200bp - A downstream_gene_variant ESAD-UK 11 72549941 72549941 single base substitution A G downstream_gene_variant ESAD-UK 11 72549941 72549941 single base substitution A G intron_variant ESAD-UK 11 72552302 72552302 single base substitution C T downstream_gene_variant ESAD-UK 11 72552302 72552302 single base substitution C T intron_variant ESAD-UK 11 72552646 72552646 single base substitution G A downstream_gene_variant ESAD-UK 11 72552646 72552646 single base substitution G A intron_variant ESAD-UK 11 72555066 72555066 insertion of <=200bp - A intron_variant ESAD-UK 11 72555066 72555066 insertion of <=200bp - A upstream_gene_variant ESAD-UK 11 72562819 72562819 deletion of <=200bp A - intron_variant ESAD-UK 11 72563532 72563532 single base substitution G A intron_variant ESAD-UK 11 72564180 72564188 deletion of <=200bp CTTAAAAGT - intron_variant ESAD-UK 11 72564199 72564199 insertion of <=200bp - TTGAGT intron_variant ESAD-UK 11 72564546 72564546 single base substitution G A intron_variant ESAD-UK 11 72566650 72566650 single base substitution G A intron_variant ESAD-UK 11 72566758 72566758 single base substitution G A intron_variant ESAD-UK 11 72567643 72567643 single base substitution C A intron_variant ESAD-UK 11 72567970 72567970 deletion of <=200bp A - intron_variant ESAD-UK 11 72568772 72568772 single base substitution G C intron_variant ESAD-UK 11 72570896 72570896 single base substitution G A intron_variant ESAD-UK 11 72572890 72572890 single base substitution C T intron_variant ESAD-UK 11 72575230 72575269 deletion of <=200bp AACATTGTGGGCTATAGTTTGAAAATGTAAGCAATAAAAG - intron_variant ESAD-UK 11 72579561 72579561 single base substitution C T intron_variant ESAD-UK 11 72580312 72580312 insertion of <=200bp - T intron_variant ESAD-UK 11 72580333 72580333 single base substitution A C intron_variant ESAD-UK 11 72583817 72583817 single base substitution G T intron_variant ESAD-UK 11 72584100 72584100 single base substitution C T intron_variant ESAD-UK 11 72584566 72584566 single base substitution T C intron_variant ESAD-UK 11 72584953 72584953 single base substitution A G intron_variant ESAD-UK 11 72585409 72585409 insertion of <=200bp - T intron_variant ESAD-UK 11 72589045 72589045 single base substitution A T intron_variant ESAD-UK 11 72590134 72590134 single base substitution C T intron_variant ESAD-UK 11 72590627 72590627 single base substitution A G intron_variant ESAD-UK 11 72592666 72592666 single base substitution G T intron_variant ESAD-UK 11 72594003 72594003 single base substitution A G intron_variant ESAD-UK 11 72595995 72595995 single base substitution G C intron_variant ESAD-UK 11 72601940 72601940 single base substitution A T intron_variant ESAD-UK 11 72601940 72601940 single base substitution A T upstream_gene_variant ESAD-UK 11 72605138 72605138 single base substitution G A intron_variant ESAD-UK 11 72605295 72605295 single base substitution A C intron_variant ESAD-UK 11 72606332 72606332 single base substitution T C intron_variant ESAD-UK 11 72606828 72606828 single base substitution C G intron_variant ESAD-UK 11 72608717 72608717 single base substitution C T intron_variant ESAD-UK 11 72609422 72609422 single base substitution G A intron_variant ESAD-UK 11 72610026 72610026 single base substitution G A intron_variant ESAD-UK 11 72611693 72611693 single base substitution T A intron_variant ESAD-UK 11 72612158 72612158 single base substitution C T intron_variant ESAD-UK 11 72619125 72619125 single base substitution G A intron_variant ESAD-UK 11 72619835 72619835 single base substitution C T intron_variant ESAD-UK 11 72620205 72620205 single base substitution C A intron_variant ESAD-UK 11 72620293 72620293 single base substitution G A intron_variant ESAD-UK 11 72622475 72622475 single base substitution T C intron_variant ESAD-UK 11 72622877 72622877 single base substitution T A intron_variant ESAD-UK 11 72623551 72623551 single base substitution G A intron_variant ESAD-UK 11 72624989 72624989 insertion of <=200bp - A intron_variant ESAD-UK 11 72629380 72629380 single base substitution T C intron_variant ESAD-UK 11 72630855 72630855 single base substitution A G intron_variant ESAD-UK 11 72630956 72630956 single base substitution T C intron_variant ESAD-UK 11 72632176 72632176 single base substitution A T intron_variant ESAD-UK 11 72633030 72633030 single base substitution A G intron_variant ESAD-UK 11 72638217 72638217 single base substitution C T intron_variant ESAD-UK 11 72641891 72641891 deletion of <=200bp A - intron_variant ESAD-UK 11 72641891 72641891 insertion of <=200bp - A intron_variant ESAD-UK 11 72643554 72643554 single base substitution A G intron_variant ESAD-UK 11 72644366 72644366 single base substitution C T intron_variant ESAD-UK 11 72644413 72644413 single base substitution A G intron_variant ESAD-UK 11 72646297 72646297 single base substitution A C intron_variant ESAD-UK 11 72646475 72646475 single base substitution C G intron_variant ESAD-UK 11 72647838 72647838 single base substitution G C intron_variant ESAD-UK 11 72650165 72650165 single base substitution C A intron_variant ESAD-UK 11 72651270 72651270 single base substitution C T intron_variant ESAD-UK 11 72654676 72654676 single base substitution T G intron_variant ESAD-UK 11 72657182 72657182 single base substitution G T intron_variant ESAD-UK 11 72658371 72658371 single base substitution A C intron_variant ESAD-UK 11 72660872 72660872 single base substitution C T intron_variant ESAD-UK 11 72664180 72664180 single base substitution G T intron_variant ESAD-UK 11 72664381 72664381 single base substitution T C intron_variant ESAD-UK 11 72664799 72664799 single base substitution G C intron_variant ESAD-UK 11 72666142 72666142 single base substitution G A intron_variant ESAD-UK 11 72668453 72668453 single base substitution C T intron_variant ESAD-UK 11 72668741 72668741 single base substitution G A intron_variant ESAD-UK 11 72669451 72669451 deletion of <=200bp T - intron_variant ESAD-UK 11 72669562 72669562 insertion of <=200bp - A intron_variant ESAD-UK 11 72670664 72670664 single base substitution G T intron_variant ESAD-UK 11 72671846 72671846 single base substitution C G intron_variant ESAD-UK 11 72672135 72672135 single base substitution T C intron_variant ESAD-UK 11 72672496 72672496 single base substitution T C intron_variant ESAD-UK 11 72672515 72672515 single base substitution G A intron_variant ESAD-UK 11 72672982 72672982 single base substitution G C intron_variant ESAD-UK 11 72673647 72673647 single base substitution T C intron_variant ESAD-UK 11 72674984 72674984 single base substitution A G intron_variant ESAD-UK 11 72678911 72678911 single base substitution C T intron_variant ESAD-UK 11 72680893 72680893 single base substitution G T intron_variant ESAD-UK 11 72681239 72681239 single base substitution T C intron_variant ESAD-UK 11 72681766 72681766 single base substitution C T intron_variant ESAD-UK 11 72683304 72683304 single base substitution G A intron_variant ESAD-UK 11 72683655 72683655 single base substitution G A intron_variant ESAD-UK 11 72688507 72688507 single base substitution T C intron_variant ESAD-UK 11 72688828 72688828 single base substitution T C intron_variant ESAD-UK 11 72689045 72689045 single base substitution T C intron_variant ESAD-UK 11 72691173 72691173 single base substitution C T downstream_gene_variant ESAD-UK 11 72691173 72691173 single base substitution C T intron_variant ESAD-UK 11 72692772 72692772 single base substitution G A downstream_gene_variant ESAD-UK 11 72692772 72692772 single base substitution G A intron_variant ESAD-UK 11 72693108 72693108 single base substitution A G downstream_gene_variant ESAD-UK 11 72693108 72693108 single base substitution A G intron_variant ESAD-UK 11 72693344 72693344 single base substitution A G downstream_gene_variant ESAD-UK 11 72693344 72693344 single base substitution A G intron_variant ESAD-UK 11 72693484 72693484 single base substitution T C downstream_gene_variant ESAD-UK 11 72693484 72693484 single base substitution T C intron_variant ESAD-UK 11 72698034 72698034 single base substitution G A downstream_gene_variant ESAD-UK 11 72698034 72698034 single base substitution G A intron_variant ESAD-UK 11 72698410 72698410 single base substitution C T downstream_gene_variant ESAD-UK 11 72698410 72698410 single base substitution C T intron_variant ESAD-UK 11 72701270 72701270 single base substitution T C intron_variant ESAD-UK 11 72701270 72701270 single base substitution T C upstream_gene_variant ESAD-UK 11 72705670 72705670 single base substitution G A intron_variant ESAD-UK 11 72706281 72706281 single base substitution T C intron_variant ESAD-UK 11 72707480 72707480 single base substitution G A intron_variant ESAD-UK 11 72708892 72708892 single base substitution T C intron_variant ESAD-UK 11 72709378 72709378 single base substitution A T intron_variant ESAD-UK 11 72709774 72709774 single base substitution C G intron_variant ESAD-UK 11 72709838 72709838 single base substitution G A intron_variant ESAD-UK 11 72709877 72709877 single base substitution A T intron_variant ESAD-UK 11 72716812 72716812 single base substitution A C intron_variant ESAD-UK 11 72717653 72717653 single base substitution C G intron_variant ESAD-UK 11 72719032 72719032 single base substitution A T intron_variant ESAD-UK 11 72720889 72720889 single base substitution G A intron_variant ESAD-UK 11 72724580 72724583 deletion of <=200bp AAGA - intron_variant ESAD-UK 11 72726054 72726054 single base substitution A G intron_variant ESAD-UK 11 72726517 72726517 single base substitution G A intron_variant ESAD-UK 11 72726680 72726680 single base substitution A C intron_variant ESAD-UK 11 72727314 72727314 single base substitution C T intron_variant ESAD-UK 11 72727624 72727624 deletion of <=200bp A - intron_variant ESAD-UK 11 72728862 72728862 single base substitution C T intron_variant ESAD-UK 11 72730971 72730971 single base substitution A T intron_variant ESAD-UK 11 72732357 72732357 single base substitution G T intron_variant ESAD-UK 11 72733101 72733101 single base substitution T G intron_variant ESAD-UK 11 72733561 72733561 single base substitution A G intron_variant ESAD-UK 11 72735130 72735130 single base substitution T C intron_variant ESAD-UK 11 72735189 72735189 single base substitution G A intron_variant ESAD-UK 11 72738327 72738327 single base substitution T G intron_variant ESAD-UK 11 72741098 72741098 single base substitution A C intron_variant ESAD-UK 11 72741399 72741399 single base substitution A G intron_variant ESAD-UK 11 72741568 72741568 single base substitution A G intron_variant ESAD-UK 11 72743240 72743240 single base substitution T G intron_variant ESAD-UK 11 72743585 72743585 single base substitution A C intron_variant ESAD-UK 11 72744638 72744638 single base substitution T A intron_variant ESAD-UK 11 72745078 72745078 single base substitution T G intron_variant ESAD-UK 11 72748187 72748187 single base substitution T C intron_variant ESAD-UK 11 72749897 72749897 insertion of <=200bp - A intron_variant ESAD-UK 11 72752870 72752870 single base substitution T G intron_variant ESAD-UK 11 72753497 72753497 single base substitution T G intron_variant ESAD-UK 11 72753499 72753499 single base substitution A C intron_variant ESAD-UK 11 72754947 72754947 single base substitution C T intron_variant ESAD-UK 11 72760977 72760977 single base substitution A T intron_variant ESAD-UK 11 72763461 72763461 single base substitution A T intron_variant ESAD-UK 11 72764020 72764020 single base substitution T A intron_variant ESAD-UK 11 72765410 72765410 single base substitution C T intron_variant ESAD-UK 11 72772149 72772149 single base substitution G A intron_variant ESAD-UK 11 72772515 72772515 single base substitution C T intron_variant ESAD-UK 11 72776315 72776315 single base substitution A G intron_variant ESAD-UK 11 72777780 72777780 single base substitution C T intron_variant ESAD-UK 11 72779076 72779076 single base substitution A G intron_variant ESAD-UK 11 72782799 72782799 single base substitution G A intron_variant ESAD-UK 11 72783537 72783537 single base substitution G T intron_variant ESAD-UK 11 72786974 72786974 single base substitution G A intron_variant ESAD-UK 11 72787015 72787015 single base substitution T A intron_variant ESAD-UK 11 72794738 72794738 insertion of <=200bp - A splice_donor_variant ESAD-UK 11 72796574 72796574 single base substitution C T intron_variant ESAD-UK 11 72800664 72800664 single base substitution C G intron_variant ESAD-UK 11 72801517 72801517 single base substitution G A intron_variant ESAD-UK 11 72804265 72804265 single base substitution G C intron_variant ESAD-UK 11 72812265 72812265 single base substitution G T intron_variant ESAD-UK 11 72813916 72813916 single base substitution G A intron_variant ESAD-UK 11 72814414 72814414 single base substitution T A intron_variant ESAD-UK 11 72815850 72815850 single base substitution G A intron_variant ESAD-UK 11 72819148 72819148 single base substitution G A intron_variant ESAD-UK 11 72825921 72825921 single base substitution C T intron_variant ESAD-UK 11 72832676 72832676 single base substitution C T intron_variant ESAD-UK 11 72833394 72833395 deletion of <=200bp CT - intron_variant ESAD-UK 11 72833666 72833666 single base substitution A G intron_variant ESAD-UK 11 72837268 72837268 single base substitution C A intron_variant ESAD-UK 11 72838492 72838492 single base substitution A C intron_variant ESAD-UK 11 72838853 72838853 single base substitution C T intron_variant ESAD-UK 11 72840623 72840623 single base substitution C T intron_variant ESAD-UK 11 72841903 72841903 single base substitution G T intron_variant ESAD-UK 11 72844948 72844948 single base substitution G T intron_variant ESAD-UK 11 72845879 72845879 single base substitution A G intron_variant ESAD-UK 11 72846656 72846656 single base substitution G A intron_variant ESAD-UK 11 72848926 72848926 single base substitution G A intron_variant ESAD-UK 11 72850446 72850446 single base substitution T C intron_variant ESAD-UK 11 72853463 72853463 single base substitution C T upstream_gene_variant ESAD-UK 11 72855511 72855511 single base substitution G C upstream_gene_variant ESAD-UK 11 72855605 72855605 single base substitution A G upstream_gene_variant KIRC-US 11 72600920 72600920 single base substitution G C missense_variant A196G 587C>G KIRC-US 11 72600920 72600920 single base substitution G C missense_variant A276G 827C>G KIRC-US 11 72600920 72600920 single base substitution G C missense_variant A332G 995C>G KIRC-US 11 72600920 72600920 single base substitution G C missense_variant A356G 1067C>G KIRC-US 11 72600920 72600920 single base substitution G C upstream_gene_variant LAML-KR 11 72589045 72589045 single base substitution A T intron_variant LAML-KR 11 72621050 72621050 single base substitution A G intron_variant LAML-KR 11 72677225 72677225 single base substitution C T intron_variant LAML-KR 11 72788159 72788159 single base substitution G A intron_variant LAML-KR 11 72788165 72788165 single base substitution G A intron_variant LAML-KR 11 72788174 72788174 single base substitution G A intron_variant LAML-KR 11 72807871 72807871 single base substitution C A intron_variant LICA-CN 11 72613584 72613584 single base substitution T A splice_region_variant LICA-CN 11 72613593 72613593 single base substitution C G missense_variant D147H 439G>C LICA-CN 11 72613593 72613593 single base substitution C G missense_variant D251H 751G>C LICA-CN 11 72613593 72613593 single base substitution C G missense_variant D307H 919G>C LICA-FR 11 72558063 72558063 single base substitution G A intron_variant LICA-FR 11 72558063 72558063 single base substitution G A upstream_gene_variant LICA-FR 11 72562923 72562925 deletion of <=200bp TTT - intron_variant LICA-FR 11 72585670 72585670 single base substitution A G intron_variant LICA-FR 11 72589240 72589240 single base substitution T C intron_variant LICA-FR 11 72590133 72590133 single base substitution G A intron_variant LICA-FR 11 72590134 72590134 single base substitution C A intron_variant LICA-FR 11 72596898 72596898 single base substitution A G intron_variant LICA-FR 11 72608365 72608365 deletion of <=200bp A - intron_variant LICA-FR 11 72620114 72620114 single base substitution T A intron_variant LICA-FR 11 72656607 72656607 single base substitution A T intron_variant LICA-FR 11 72661596 72661596 single base substitution T C intron_variant LICA-FR 11 72667881 72667881 single base substitution A G intron_variant LICA-FR 11 72670039 72670042 deletion of <=200bp TGTG - intron_variant LICA-FR 11 72695134 72695134 insertion of <=200bp - TTCATAA downstream_gene_variant LICA-FR 11 72695134 72695134 insertion of <=200bp - TTCATAA frameshift_variant K179NYE? LICA-FR 11 72695134 72695134 insertion of <=200bp - TTCATAA frameshift_variant K235NYE? LICA-FR 11 72695134 72695134 insertion of <=200bp - TTCATAA frameshift_variant K75NYE? LICA-FR 11 72695134 72695134 insertion of <=200bp - TTCATAA frameshift_variant K77NYE? LICA-FR 11 72704418 72704418 single base substitution T A intron_variant LICA-FR 11 72704418 72704418 single base substitution T A upstream_gene_variant LICA-FR 11 72704428 72704428 single base substitution A T intron_variant LICA-FR 11 72704428 72704428 single base substitution A T upstream_gene_variant LICA-FR 11 72721837 72721837 single base substitution C T intron_variant LICA-FR 11 72725526 72725526 single base substitution T C intron_variant LICA-FR 11 72762914 72762925 deletion of <=200bp ACACACACACAC - intron_variant LICA-FR 11 72847331 72847331 single base substitution T C intron_variant LINC-JP 11 72544525 72544525 single base substitution G T downstream_gene_variant LINC-JP 11 72560569 72560569 single base substitution C T intron_variant LINC-JP 11 72563963 72563963 single base substitution T C intron_variant LINC-JP 11 72571239 72571239 single base substitution G A intron_variant LINC-JP 11 72576710 72576710 single base substitution C T intron_variant LINC-JP 11 72587664 72587664 single base substitution A T intron_variant LINC-JP 11 72598565 72598565 single base substitution C T exon_variant LINC-JP 11 72598565 72598565 single base substitution C T missense_variant E230K 688G>A LINC-JP 11 72598565 72598565 single base substitution C T missense_variant E310K 928G>A LINC-JP 11 72598565 72598565 single base substitution C T missense_variant E366K 1096G>A LINC-JP 11 72598565 72598565 single base substitution C T missense_variant E390K 1168G>A LINC-JP 11 72600880 72600880 single base substitution T C synonymous_variant Q209Q 627A>G LINC-JP 11 72600880 72600880 single base substitution T C synonymous_variant Q289Q 867A>G LINC-JP 11 72600880 72600880 single base substitution T C synonymous_variant Q345Q 1035A>G LINC-JP 11 72600880 72600880 single base substitution T C synonymous_variant Q369Q 1107A>G LINC-JP 11 72600880 72600880 single base substitution T C upstream_gene_variant LINC-JP 11 72613216 72613216 single base substitution G C intron_variant LINC-JP 11 72616799 72616799 single base substitution C A intron_variant LINC-JP 11 72626719 72626719 single base substitution C T intron_variant LINC-JP 11 72630014 72630014 single base substitution T C intron_variant LINC-JP 11 72636104 72636104 deletion of <=200bp A - intron_variant LINC-JP 11 72652529 72652529 deletion of <=200bp A - intron_variant LINC-JP 11 72672314 72672314 single base substitution T C intron_variant LINC-JP 11 72681621 72681621 single base substitution G A intron_variant LINC-JP 11 72683194 72683194 single base substitution C T intron_variant LINC-JP 11 72695216 72695216 single base substitution T C downstream_gene_variant LINC-JP 11 72695216 72695216 single base substitution T C missense_variant R152G 454A>G LINC-JP 11 72695216 72695216 single base substitution T C missense_variant R208G 622A>G LINC-JP 11 72695216 72695216 single base substitution T C missense_variant R48G 142A>G LINC-JP 11 72695216 72695216 single base substitution T C missense_variant R50G 148A>G LINC-JP 11 72699304 72699304 single base substitution T C downstream_gene_variant LINC-JP 11 72699304 72699304 single base substitution T C intron_variant LINC-JP 11 72708934 72708934 single base substitution C T intron_variant LINC-JP 11 72710515 72710515 single base substitution C A intron_variant LINC-JP 11 72713326 72713326 single base substitution T A intron_variant LINC-JP 11 72716931 72716931 single base substitution C A intron_variant LINC-JP 11 72734842 72734842 single base substitution T A intron_variant LINC-JP 11 72740101 72740101 single base substitution T C intron_variant LINC-JP 11 72760043 72760043 single base substitution T A intron_variant LINC-JP 11 72761603 72761603 single base substitution T C intron_variant LINC-JP 11 72762221 72762221 single base substitution C T intron_variant LINC-JP 11 72781784 72781784 deletion of <=200bp A - intron_variant LINC-JP 11 72787512 72787512 single base substitution T G intron_variant LINC-JP 11 72793372 72793372 single base substitution A T intron_variant LINC-JP 11 72795274 72795274 single base substitution T A intron_variant LINC-JP 11 72819419 72819419 single base substitution T C intron_variant LINC-JP 11 72824006 72824006 single base substitution C T intron_variant LINC-JP 11 72840035 72840035 single base substitution G A intron_variant LINC-JP 11 72856829 72856829 single base substitution G A upstream_gene_variant LIRI-JP 11 72544069 72544069 single base substitution T C downstream_gene_variant LIRI-JP 11 72545163 72545163 single base substitution C G downstream_gene_variant LIRI-JP 11 72545875 72545875 single base substitution C G downstream_gene_variant LIRI-JP 11 72546292 72546292 single base substitution T C downstream_gene_variant LIRI-JP 11 72548752 72548773 deletion of <=200bp CATAGAAAGCTGGTTTCCTCCA - 3_prime_UTR_variant LIRI-JP 11 72548752 72548773 deletion of <=200bp CATAGAAAGCTGGTTTCCTCCA - downstream_gene_variant LIRI-JP 11 72549756 72549756 single base substitution C T 3_prime_UTR_variant LIRI-JP 11 72549756 72549756 single base substitution C T downstream_gene_variant LIRI-JP 11 72550915 72550915 single base substitution G A downstream_gene_variant LIRI-JP 11 72550915 72550915 single base substitution G A intron_variant LIRI-JP 11 72553276 72553276 single base substitution A C downstream_gene_variant LIRI-JP 11 72553276 72553276 single base substitution A C intron_variant LIRI-JP 11 72553649 72553649 single base substitution T C downstream_gene_variant LIRI-JP 11 72553649 72553649 single base substitution T C intron_variant LIRI-JP 11 72554062 72554062 single base substitution G A 3_prime_UTR_variant LIRI-JP 11 72554062 72554062 single base substitution G A downstream_gene_variant LIRI-JP 11 72554062 72554062 single base substitution G A intron_variant LIRI-JP 11 72565030 72565030 single base substitution T C intron_variant LIRI-JP 11 72567482 72567482 single base substitution T C intron_variant LIRI-JP 11 72570313 72570313 single base substitution T C intron_variant LIRI-JP 11 72571647 72571647 single base substitution T C intron_variant LIRI-JP 11 72573771 72573771 single base substitution T A intron_variant LIRI-JP 11 72575796 72575796 single base substitution T C intron_variant LIRI-JP 11 72580357 72580357 single base substitution A T intron_variant LIRI-JP 11 72581409 72581409 single base substitution T A intron_variant LIRI-JP 11 72581477 72581477 single base substitution A C intron_variant LIRI-JP 11 72585109 72585109 single base substitution G C intron_variant LIRI-JP 11 72585992 72585992 single base substitution A C intron_variant LIRI-JP 11 72587919 72587919 single base substitution T C intron_variant LIRI-JP 11 72588430 72588430 single base substitution G A intron_variant LIRI-JP 11 72589911 72589911 single base substitution G A intron_variant LIRI-JP 11 72592410 72592410 single base substitution T C intron_variant LIRI-JP 11 72593397 72593397 single base substitution C T intron_variant LIRI-JP 11 72594287 72594287 single base substitution T C intron_variant LIRI-JP 11 72594714 72594714 single base substitution C T intron_variant LIRI-JP 11 72594921 72594921 single base substitution G C intron_variant LIRI-JP 11 72599601 72599601 single base substitution T C intron_variant LIRI-JP 11 72599601 72599601 single base substitution T C upstream_gene_variant LIRI-JP 11 72600388 72600388 single base substitution A C intron_variant LIRI-JP 11 72600388 72600388 single base substitution A C upstream_gene_variant LIRI-JP 11 72603119 72603119 single base substitution A G intron_variant LIRI-JP 11 72603119 72603119 single base substitution A G upstream_gene_variant LIRI-JP 11 72603576 72603576 single base substitution T C intron_variant LIRI-JP 11 72603576 72603576 single base substitution T C upstream_gene_variant LIRI-JP 11 72605260 72605260 single base substitution T G intron_variant LIRI-JP 11 72612461 72612461 single base substitution T C intron_variant LIRI-JP 11 72612526 72612526 single base substitution T C intron_variant LIRI-JP 11 72614835 72614835 single base substitution T G intron_variant LIRI-JP 11 72615007 72615007 single base substitution T A intron_variant LIRI-JP 11 72615927 72615927 single base substitution T C intron_variant LIRI-JP 11 72616535 72616535 single base substitution C T intron_variant LIRI-JP 11 72616943 72616943 single base substitution T C intron_variant LIRI-JP 11 72617705 72617705 single base substitution C G intron_variant LIRI-JP 11 72617727 72617727 single base substitution T C intron_variant LIRI-JP 11 72619304 72619304 single base substitution C T intron_variant LIRI-JP 11 72619460 72619460 single base substitution A G intron_variant LIRI-JP 11 72619761 72619761 single base substitution G C intron_variant LIRI-JP 11 72621583 72621583 single base substitution T A intron_variant LIRI-JP 11 72623524 72623524 single base substitution G C intron_variant LIRI-JP 11 72625005 72625005 single base substitution T C intron_variant LIRI-JP 11 72626831 72626831 single base substitution C T intron_variant LIRI-JP 11 72628168 72628168 single base substitution T C intron_variant LIRI-JP 11 72629535 72629535 single base substitution T C intron_variant LIRI-JP 11 72630447 72630447 single base substitution T C intron_variant LIRI-JP 11 72630471 72630471 single base substitution A G intron_variant LIRI-JP 11 72631631 72631631 single base substitution C T intron_variant LIRI-JP 11 72632192 72632192 single base substitution T C intron_variant LIRI-JP 11 72635991 72635991 single base substitution G A intron_variant LIRI-JP 11 72636276 72636277 deletion of <=200bp TC - intron_variant LIRI-JP 11 72636319 72636319 single base substitution G C intron_variant LIRI-JP 11 72637233 72637233 single base substitution T A intron_variant LIRI-JP 11 72638311 72638311 single base substitution T C intron_variant LIRI-JP 11 72642539 72642539 single base substitution T C intron_variant LIRI-JP 11 72642793 72642793 single base substitution G T intron_variant LIRI-JP 11 72645879 72645879 single base substitution T C intron_variant LIRI-JP 11 72646122 72646122 single base substitution C A intron_variant LIRI-JP 11 72646271 72646271 single base substitution T C intron_variant LIRI-JP 11 72646914 72646914 single base substitution C T intron_variant LIRI-JP 11 72652421 72652421 single base substitution T A intron_variant LIRI-JP 11 72656525 72656525 single base substitution T C intron_variant LIRI-JP 11 72658007 72658007 single base substitution C A intron_variant LIRI-JP 11 72662323 72662323 single base substitution T C intron_variant LIRI-JP 11 72664311 72664311 single base substitution C T intron_variant LIRI-JP 11 72666925 72666925 single base substitution T C intron_variant LIRI-JP 11 72667687 72667687 single base substitution A G intron_variant LIRI-JP 11 72669700 72669700 insertion of <=200bp - A intron_variant LIRI-JP 11 72671229 72671229 single base substitution G T intron_variant LIRI-JP 11 72673205 72673205 single base substitution T G intron_variant LIRI-JP 11 72673433 72673433 single base substitution A C intron_variant LIRI-JP 11 72677919 72677919 single base substitution G T intron_variant LIRI-JP 11 72678462 72678462 single base substitution T C intron_variant LIRI-JP 11 72678577 72678577 single base substitution G A intron_variant LIRI-JP 11 72679250 72679250 single base substitution A G intron_variant LIRI-JP 11 72679525 72679525 single base substitution A G intron_variant LIRI-JP 11 72682128 72682128 single base substitution G A intron_variant LIRI-JP 11 72685020 72685020 single base substitution T C intron_variant LIRI-JP 11 72685700 72685700 single base substitution C A intron_variant LIRI-JP 11 72688577 72688577 single base substitution T C intron_variant LIRI-JP 11 72688623 72688623 single base substitution A G intron_variant LIRI-JP 11 72690861 72690861 single base substitution T C downstream_gene_variant LIRI-JP 11 72690861 72690861 single base substitution T C intron_variant LIRI-JP 11 72692824 72692824 single base substitution T C downstream_gene_variant LIRI-JP 11 72692824 72692824 single base substitution T C intron_variant LIRI-JP 11 72692985 72692985 single base substitution C T downstream_gene_variant LIRI-JP 11 72692985 72692985 single base substitution C T intron_variant LIRI-JP 11 72695561 72695561 single base substitution A G downstream_gene_variant LIRI-JP 11 72695561 72695561 single base substitution A G intron_variant LIRI-JP 11 72697165 72697165 single base substitution G A downstream_gene_variant LIRI-JP 11 72697165 72697165 single base substitution G A intron_variant LIRI-JP 11 72699018 72699018 single base substitution T C downstream_gene_variant LIRI-JP 11 72699018 72699018 single base substitution T C intron_variant LIRI-JP 11 72699104 72699104 single base substitution G C downstream_gene_variant LIRI-JP 11 72699104 72699104 single base substitution G C intron_variant LIRI-JP 11 72699622 72699622 single base substitution A T downstream_gene_variant LIRI-JP 11 72699622 72699622 single base substitution A T intron_variant LIRI-JP 11 72700892 72700892 single base substitution A G intron_variant LIRI-JP 11 72700892 72700892 single base substitution A G upstream_gene_variant LIRI-JP 11 72701227 72701227 single base substitution A T intron_variant LIRI-JP 11 72701227 72701227 single base substitution A T upstream_gene_variant LIRI-JP 11 72707198 72707198 single base substitution T A intron_variant LIRI-JP 11 72707980 72707980 single base substitution G T intron_variant LIRI-JP 11 72708311 72708311 single base substitution G A intron_variant LIRI-JP 11 72709580 72709580 single base substitution T A intron_variant LIRI-JP 11 72712562 72712562 single base substitution A T intron_variant LIRI-JP 11 72713601 72713601 single base substitution T C intron_variant LIRI-JP 11 72713724 72713724 single base substitution T A intron_variant LIRI-JP 11 72717383 72717383 single base substitution T C intron_variant LIRI-JP 11 72718179 72718179 single base substitution T C intron_variant LIRI-JP 11 72718339 72718339 single base substitution T C intron_variant LIRI-JP 11 72718441 72718441 single base substitution G A intron_variant LIRI-JP 11 72721176 72721176 single base substitution T G intron_variant LIRI-JP 11 72723340 72723340 single base substitution T C intron_variant LIRI-JP 11 72725279 72725279 single base substitution C T intron_variant LIRI-JP 11 72725910 72725910 single base substitution C A intron_variant LIRI-JP 11 72726351 72726351 single base substitution T C intron_variant LIRI-JP 11 72729086 72729086 single base substitution T C intron_variant LIRI-JP 11 72734595 72734595 single base substitution C T intron_variant LIRI-JP 11 72734821 72734821 single base substitution G C intron_variant LIRI-JP 11 72735090 72735090 single base substitution A G intron_variant LIRI-JP 11 72735240 72735240 single base substitution G A intron_variant LIRI-JP 11 72739479 72739479 single base substitution C T intron_variant LIRI-JP 11 72740189 72740189 single base substitution T C intron_variant LIRI-JP 11 72747467 72747467 single base substitution A G intron_variant LIRI-JP 11 72750765 72750765 single base substitution A C intron_variant LIRI-JP 11 72751612 72751612 single base substitution G A intron_variant LIRI-JP 11 72752666 72752666 single base substitution T A intron_variant LIRI-JP 11 72754646 72754646 single base substitution T C intron_variant LIRI-JP 11 72755032 72755032 single base substitution T C intron_variant LIRI-JP 11 72756482 72756482 single base substitution T C intron_variant LIRI-JP 11 72757335 72757335 single base substitution C A intron_variant LIRI-JP 11 72758459 72758459 single base substitution G T intron_variant LIRI-JP 11 72761527 72761527 deletion of <=200bp T - intron_variant LIRI-JP 11 72761756 72761756 single base substitution T C intron_variant LIRI-JP 11 72761937 72761937 single base substitution T C intron_variant LIRI-JP 11 72762652 72762652 single base substitution A T intron_variant LIRI-JP 11 72768174 72768174 single base substitution G T intron_variant LIRI-JP 11 72770509 72770509 single base substitution T C intron_variant LIRI-JP 11 72770612 72770612 single base substitution G T intron_variant LIRI-JP 11 72772034 72772034 single base substitution G T intron_variant LIRI-JP 11 72772922 72772922 single base substitution C T intron_variant LIRI-JP 11 72776278 72776278 single base substitution G A intron_variant LIRI-JP 11 72776506 72776506 single base substitution C G intron_variant LIRI-JP 11 72777613 72777613 single base substitution T C intron_variant LIRI-JP 11 72777928 72777928 single base substitution T A intron_variant LIRI-JP 11 72779210 72779210 single base substitution T C intron_variant LIRI-JP 11 72780935 72780935 single base substitution T C intron_variant LIRI-JP 11 72782316 72782316 single base substitution T A intron_variant LIRI-JP 11 72785049 72785049 single base substitution G T intron_variant LIRI-JP 11 72786073 72786073 single base substitution G C intron_variant LIRI-JP 11 72786580 72786580 single base substitution G A intron_variant LIRI-JP 11 72789347 72789347 single base substitution T A intron_variant LIRI-JP 11 72792435 72792435 single base substitution C T intron_variant LIRI-JP 11 72794383 72794383 single base substitution C G intron_variant LIRI-JP 11 72799329 72799329 single base substitution T A intron_variant LIRI-JP 11 72801031 72801031 single base substitution A G intron_variant LIRI-JP 11 72801239 72801239 single base substitution T C intron_variant LIRI-JP 11 72802948 72802948 single base substitution C T intron_variant LIRI-JP 11 72803539 72803539 single base substitution C G intron_variant LIRI-JP 11 72806439 72806439 single base substitution T C intron_variant LIRI-JP 11 72810560 72810560 single base substitution A C intron_variant LIRI-JP 11 72810884 72810884 single base substitution T C intron_variant LIRI-JP 11 72811279 72811282 deletion of <=200bp CGTC - intron_variant LIRI-JP 11 72812067 72812067 single base substitution T C intron_variant LIRI-JP 11 72812468 72812468 single base substitution T C intron_variant LIRI-JP 11 72813307 72813307 single base substitution T C intron_variant LIRI-JP 11 72817047 72817047 single base substitution T C intron_variant LIRI-JP 11 72818618 72818618 single base substitution T C intron_variant LIRI-JP 11 72818703 72818703 single base substitution T C intron_variant LIRI-JP 11 72819887 72819887 single base substitution A G intron_variant LIRI-JP 11 72821407 72821407 single base substitution C T intron_variant LIRI-JP 11 72822171 72822171 single base substitution G C intron_variant LIRI-JP 11 72825023 72825023 single base substitution G A intron_variant LIRI-JP 11 72826533 72826533 single base substitution T C intron_variant LIRI-JP 11 72826744 72826744 single base substitution T C intron_variant LIRI-JP 11 72827867 72827867 single base substitution C T intron_variant LIRI-JP 11 72831979 72831979 single base substitution C T intron_variant LIRI-JP 11 72832805 72832805 single base substitution A C intron_variant LIRI-JP 11 72834885 72834885 single base substitution G C intron_variant LIRI-JP 11 72835997 72835997 single base substitution C G intron_variant LIRI-JP 11 72836373 72836373 single base substitution T C intron_variant LIRI-JP 11 72837801 72837801 single base substitution G A intron_variant LIRI-JP 11 72838170 72838170 single base substitution A G intron_variant LIRI-JP 11 72838378 72838378 single base substitution T C intron_variant LIRI-JP 11 72838430 72838430 single base substitution A C intron_variant LIRI-JP 11 72840760 72840760 single base substitution C A intron_variant LIRI-JP 11 72841279 72841279 single base substitution T C intron_variant LIRI-JP 11 72842734 72842734 single base substitution C A intron_variant LIRI-JP 11 72844042 72844042 single base substitution C A intron_variant LIRI-JP 11 72844237 72844237 single base substitution T C intron_variant LIRI-JP 11 72844370 72844370 single base substitution T C intron_variant LIRI-JP 11 72844451 72844451 single base substitution T C intron_variant LIRI-JP 11 72846231 72846231 single base substitution A T intron_variant LIRI-JP 11 72847961 72847961 single base substitution T C intron_variant LIRI-JP 11 72848360 72848360 single base substitution C T intron_variant LIRI-JP 11 72850017 72850017 single base substitution C T intron_variant LIRI-JP 11 72850596 72850596 single base substitution T C intron_variant LIRI-JP 11 72851817 72851817 single base substitution T G intron_variant LIRI-JP 11 72851817 72851817 single base substitution T G upstream_gene_variant LIRI-JP 11 72857583 72857583 single base substitution A T upstream_gene_variant LIRI-JP 11 72858174 72858174 single base substitution G C upstream_gene_variant LUSC-KR 11 72547314 72547314 single base substitution A C downstream_gene_variant LUSC-KR 11 72552411 72552411 single base substitution C A downstream_gene_variant LUSC-KR 11 72552411 72552411 single base substitution C A intron_variant LUSC-KR 11 72565512 72565512 single base substitution T G intron_variant LUSC-KR 11 72568341 72568341 single base substitution C G intron_variant LUSC-KR 11 72594551 72594551 single base substitution G A intron_variant LUSC-KR 11 72598759 72598759 single base substitution T C intron_variant LUSC-KR 11 72598759 72598759 single base substitution T C upstream_gene_variant LUSC-KR 11 72605903 72605903 single base substitution C T intron_variant LUSC-KR 11 72617447 72617447 single base substitution T A intron_variant LUSC-KR 11 72618173 72618173 single base substitution C A intron_variant LUSC-KR 11 72622677 72622677 single base substitution C A intron_variant LUSC-KR 11 72622678 72622678 single base substitution C G intron_variant LUSC-KR 11 72626029 72626029 single base substitution G T intron_variant LUSC-KR 11 72626968 72626968 single base substitution G A intron_variant LUSC-KR 11 72627370 72627370 single base substitution A T intron_variant LUSC-KR 11 72636141 72636141 single base substitution T C intron_variant LUSC-KR 11 72643497 72643497 single base substitution T C intron_variant LUSC-KR 11 72645242 72645242 single base substitution G A intron_variant LUSC-KR 11 72645394 72645394 single base substitution G A intron_variant LUSC-KR 11 72645396 72645396 single base substitution G A intron_variant LUSC-KR 11 72645477 72645477 single base substitution G C intron_variant LUSC-KR 11 72646272 72646272 single base substitution G A intron_variant LUSC-KR 11 72646966 72646966 single base substitution G C intron_variant LUSC-KR 11 72650596 72650596 single base substitution G C intron_variant LUSC-KR 11 72651047 72651047 single base substitution G A intron_variant LUSC-KR 11 72659642 72659642 single base substitution G T intron_variant LUSC-KR 11 72662109 72662109 single base substitution G C intron_variant LUSC-KR 11 72662115 72662115 single base substitution G T intron_variant LUSC-KR 11 72667166 72667166 single base substitution T C intron_variant LUSC-KR 11 72676320 72676320 single base substitution T C intron_variant LUSC-KR 11 72684366 72684366 single base substitution C A intron_variant LUSC-KR 11 72691051 72691051 single base substitution G A downstream_gene_variant LUSC-KR 11 72691051 72691051 single base substitution G A intron_variant LUSC-KR 11 72692130 72692130 single base substitution G A downstream_gene_variant LUSC-KR 11 72692130 72692130 single base substitution G A intron_variant LUSC-KR 11 72693561 72693561 single base substitution G A downstream_gene_variant LUSC-KR 11 72693561 72693561 single base substitution G A intron_variant LUSC-KR 11 72696438 72696438 single base substitution T A downstream_gene_variant LUSC-KR 11 72696438 72696438 single base substitution T A intron_variant LUSC-KR 11 72699200 72699200 single base substitution C A downstream_gene_variant LUSC-KR 11 72699200 72699200 single base substitution C A intron_variant LUSC-KR 11 72700227 72700227 single base substitution C A intron_variant LUSC-KR 11 72700227 72700227 single base substitution C A upstream_gene_variant LUSC-KR 11 72712191 72712191 single base substitution G C intron_variant LUSC-KR 11 72719253 72719253 single base substitution G A intron_variant LUSC-KR 11 72723327 72723327 single base substitution T A intron_variant LUSC-KR 11 72727049 72727049 single base substitution G A intron_variant LUSC-KR 11 72728588 72728588 single base substitution C G intron_variant LUSC-KR 11 72729803 72729803 single base substitution G C intron_variant LUSC-KR 11 72737656 72737656 single base substitution G C intron_variant LUSC-KR 11 72741465 72741465 single base substitution C T intron_variant LUSC-KR 11 72742059 72742059 single base substitution A T intron_variant LUSC-KR 11 72744109 72744109 single base substitution G A intron_variant LUSC-KR 11 72744158 72744158 single base substitution C A intron_variant LUSC-KR 11 72744537 72744537 single base substitution C A intron_variant LUSC-KR 11 72744874 72744874 single base substitution C A intron_variant LUSC-KR 11 72745050 72745050 single base substitution T C intron_variant LUSC-KR 11 72748472 72748472 single base substitution G T intron_variant LUSC-KR 11 72748958 72748958 single base substitution C A intron_variant LUSC-KR 11 72762185 72762185 single base substitution G C intron_variant LUSC-KR 11 72763576 72763576 single base substitution G A intron_variant LUSC-KR 11 72769559 72769559 single base substitution G C intron_variant LUSC-KR 11 72771133 72771133 single base substitution C G intron_variant LUSC-KR 11 72772034 72772034 single base substitution G C intron_variant LUSC-KR 11 72772968 72772968 single base substitution G C intron_variant LUSC-KR 11 72773429 72773429 single base substitution C A intron_variant LUSC-KR 11 72774350 72774350 single base substitution G A intron_variant LUSC-KR 11 72774472 72774472 single base substitution C G intron_variant LUSC-KR 11 72775899 72775899 single base substitution G A intron_variant LUSC-KR 11 72777046 72777046 single base substitution C A intron_variant LUSC-KR 11 72777333 72777333 single base substitution T A intron_variant LUSC-KR 11 72789812 72789812 single base substitution G A intron_variant LUSC-KR 11 72790319 72790319 single base substitution G A intron_variant LUSC-KR 11 72790429 72790429 single base substitution G C intron_variant LUSC-KR 11 72790473 72790473 single base substitution G A intron_variant LUSC-KR 11 72791541 72791541 single base substitution G C intron_variant LUSC-KR 11 72791603 72791603 single base substitution G A intron_variant LUSC-KR 11 72791672 72791672 single base substitution G C intron_variant LUSC-KR 11 72792056 72792056 single base substitution G A intron_variant LUSC-KR 11 72792491 72792491 single base substitution A T intron_variant LUSC-KR 11 72798766 72798766 single base substitution T A intron_variant LUSC-KR 11 72801682 72801682 single base substitution G C intron_variant LUSC-KR 11 72803393 72803393 single base substitution G A intron_variant LUSC-KR 11 72807454 72807454 single base substitution G A intron_variant LUSC-KR 11 72822381 72822381 single base substitution G T intron_variant LUSC-KR 11 72823716 72823716 single base substitution C G intron_variant LUSC-KR 11 72833977 72833977 single base substitution G A intron_variant LUSC-KR 11 72852581 72852581 single base substitution C A intron_variant LUSC-KR 11 72852581 72852581 single base substitution C A upstream_gene_variant LUSC-KR 11 72853964 72853964 single base substitution A G upstream_gene_variant LUSC-KR 11 72854125 72854125 single base substitution G A upstream_gene_variant LUSC-KR 11 72854238 72854238 single base substitution C G upstream_gene_variant LUSC-KR 11 72855721 72855721 single base substitution C A upstream_gene_variant LUSC-US 11 72598570 72598570 single base substitution C A exon_variant LUSC-US 11 72598570 72598570 single base substitution C A missense_variant R228L 683G>T LUSC-US 11 72598570 72598570 single base substitution C A missense_variant R308L 923G>T LUSC-US 11 72598570 72598570 single base substitution C A missense_variant R364L 1091G>T LUSC-US 11 72598570 72598570 single base substitution C A missense_variant R388L 1163G>T LUSC-US 11 72695219 72695219 single base substitution C A downstream_gene_variant LUSC-US 11 72695219 72695219 single base substitution C A missense_variant A151S 451G>T LUSC-US 11 72695219 72695219 single base substitution C A missense_variant A207S 619G>T LUSC-US 11 72695219 72695219 single base substitution C A missense_variant A47S 139G>T LUSC-US 11 72695219 72695219 single base substitution C A missense_variant A49S 145G>T LUSC-US 11 72712089 72712089 single base substitution G A intron_variant LUSC-US 11 72712089 72712089 single base substitution G A synonymous_variant F111F 333C>T LUSC-US 11 72712089 72712089 single base substitution G A synonymous_variant F55F 165C>T LUSC-US 11 72712089 72712089 single base substitution G A synonymous_variant F90F 270C>T MALY-DE 11 72545409 72545409 single base substitution T C downstream_gene_variant MALY-DE 11 72547149 72547149 single base substitution T C downstream_gene_variant MALY-DE 11 72553060 72553060 single base substitution G A downstream_gene_variant MALY-DE 11 72553060 72553060 single base substitution G A intron_variant MALY-DE 11 72563969 72563984 deletion of <=200bp GTGGGAGCTAAATGAT - intron_variant MALY-DE 11 72566325 72566325 insertion of <=200bp - AAAC intron_variant MALY-DE 11 72575645 72575645 single base substitution C G intron_variant MALY-DE 11 72575711 72575711 single base substitution T C intron_variant MALY-DE 11 72579959 72579959 single base substitution T G intron_variant MALY-DE 11 72588413 72588413 single base substitution C T intron_variant MALY-DE 11 72589628 72589628 insertion of <=200bp - G intron_variant MALY-DE 11 72594382 72594382 single base substitution T G intron_variant MALY-DE 11 72595599 72595599 insertion of <=200bp - AT intron_variant MALY-DE 11 72597078 72597078 single base substitution G A intron_variant MALY-DE 11 72607255 72607255 single base substitution C T intron_variant MALY-DE 11 72607494 72607494 single base substitution C A intron_variant MALY-DE 11 72609133 72609133 single base substitution T G intron_variant MALY-DE 11 72614429 72614429 insertion of <=200bp - T intron_variant MALY-DE 11 72622571 72622571 single base substitution G A intron_variant MALY-DE 11 72622976 72622976 single base substitution T C intron_variant MALY-DE 11 72625006 72625006 single base substitution C T intron_variant MALY-DE 11 72626877 72626881 deletion of <=200bp AAAAG - intron_variant MALY-DE 11 72627854 72627854 single base substitution T G intron_variant MALY-DE 11 72629888 72629888 single base substitution T C intron_variant MALY-DE 11 72646883 72646883 single base substitution A T intron_variant MALY-DE 11 72646885 72646885 single base substitution T C intron_variant MALY-DE 11 72648462 72648462 single base substitution A C intron_variant MALY-DE 11 72650450 72650454 deletion of <=200bp TTAAG - intron_variant MALY-DE 11 72653901 72653901 single base substitution G C intron_variant MALY-DE 11 72662887 72662887 single base substitution G A intron_variant MALY-DE 11 72665354 72665354 single base substitution T A intron_variant MALY-DE 11 72666406 72666410 deletion of <=200bp AAGAA - intron_variant MALY-DE 11 72669800 72669800 single base substitution A C intron_variant MALY-DE 11 72672477 72672477 single base substitution G T intron_variant MALY-DE 11 72673521 72673521 single base substitution T C intron_variant MALY-DE 11 72673804 72673804 insertion of <=200bp - A intron_variant MALY-DE 11 72674464 72674464 insertion of <=200bp - A intron_variant MALY-DE 11 72677898 72677898 single base substitution G T intron_variant MALY-DE 11 72690395 72690395 single base substitution A G downstream_gene_variant MALY-DE 11 72690395 72690395 single base substitution A G intron_variant MALY-DE 11 72690401 72690401 single base substitution A G downstream_gene_variant MALY-DE 11 72690401 72690401 single base substitution A G intron_variant MALY-DE 11 72692375 72692375 single base substitution A T downstream_gene_variant MALY-DE 11 72692375 72692375 single base substitution A T intron_variant MALY-DE 11 72694677 72694677 single base substitution T A downstream_gene_variant MALY-DE 11 72694677 72694677 single base substitution T A intron_variant MALY-DE 11 72695834 72695834 single base substitution T G downstream_gene_variant MALY-DE 11 72695834 72695834 single base substitution T G intron_variant MALY-DE 11 72696466 72696466 single base substitution C A downstream_gene_variant MALY-DE 11 72696466 72696466 single base substitution C A intron_variant MALY-DE 11 72701972 72701972 insertion of <=200bp - T intron_variant MALY-DE 11 72701972 72701972 insertion of <=200bp - T upstream_gene_variant MALY-DE 11 72708440 72708440 single base substitution A T intron_variant MALY-DE 11 72712818 72712818 insertion of <=200bp - ATT intron_variant MALY-DE 11 72713900 72713900 single base substitution T C intron_variant MALY-DE 11 72713931 72713931 single base substitution T C intron_variant MALY-DE 11 72713960 72713960 single base substitution G A intron_variant MALY-DE 11 72719486 72719486 single base substitution G C intron_variant MALY-DE 11 72722969 72722969 single base substitution G A intron_variant MALY-DE 11 72725797 72725797 single base substitution G A intron_variant MALY-DE 11 72725896 72725896 insertion of <=200bp - T intron_variant MALY-DE 11 72736468 72736468 single base substitution A C intron_variant MALY-DE 11 72736944 72736944 single base substitution G A intron_variant MALY-DE 11 72738892 72738892 single base substitution A G intron_variant MALY-DE 11 72740457 72740457 single base substitution G C intron_variant MALY-DE 11 72740632 72740632 single base substitution A G intron_variant MALY-DE 11 72741243 72741243 single base substitution A T intron_variant MALY-DE 11 72742517 72742517 single base substitution G A intron_variant MALY-DE 11 72744265 72744265 single base substitution G A intron_variant MALY-DE 11 72749157 72749157 single base substitution G A intron_variant MALY-DE 11 72749564 72749564 single base substitution G A intron_variant MALY-DE 11 72754528 72754528 single base substitution A T intron_variant MALY-DE 11 72754629 72754629 single base substitution C A intron_variant MALY-DE 11 72759460 72759460 single base substitution G A intron_variant MALY-DE 11 72759528 72759528 single base substitution A G intron_variant MALY-DE 11 72759536 72759536 single base substitution A G intron_variant MALY-DE 11 72764149 72764149 single base substitution C A intron_variant MALY-DE 11 72770844 72770844 single base substitution A T intron_variant MALY-DE 11 72775515 72775515 single base substitution A C intron_variant MALY-DE 11 72776035 72776035 single base substitution C T intron_variant MALY-DE 11 72780393 72780393 single base substitution A C intron_variant MALY-DE 11 72780546 72780546 single base substitution A C intron_variant MALY-DE 11 72782756 72782756 insertion of <=200bp - A intron_variant MALY-DE 11 72786412 72786412 single base substitution G A intron_variant MALY-DE 11 72788083 72788083 single base substitution A G intron_variant MALY-DE 11 72789630 72789630 single base substitution G A intron_variant MALY-DE 11 72796803 72796803 single base substitution C T intron_variant MALY-DE 11 72798765 72798765 single base substitution A T intron_variant MALY-DE 11 72798771 72798771 single base substitution A T intron_variant MALY-DE 11 72804161 72804161 single base substitution G C intron_variant MALY-DE 11 72807980 72807980 single base substitution A C intron_variant MALY-DE 11 72818081 72818082 deletion of <=200bp TA - intron_variant MALY-DE 11 72818096 72818096 single base substitution A T intron_variant MALY-DE 11 72818148 72818148 single base substitution A G intron_variant MALY-DE 11 72819970 72819970 single base substitution T A intron_variant MALY-DE 11 72820081 72820081 single base substitution T G intron_variant MALY-DE 11 72822745 72822745 single base substitution A G intron_variant MALY-DE 11 72823641 72823647 deletion of <=200bp CCTGCCT - intron_variant MALY-DE 11 72825502 72825502 single base substitution A G intron_variant MALY-DE 11 72825616 72825616 single base substitution C T intron_variant MALY-DE 11 72825960 72825960 single base substitution G A intron_variant MALY-DE 11 72827486 72827486 single base substitution C A intron_variant MALY-DE 11 72828935 72828935 single base substitution T A intron_variant MALY-DE 11 72830258 72830258 single base substitution G A intron_variant MALY-DE 11 72832220 72832221 deletion of <=200bp AC - intron_variant MALY-DE 11 72833601 72833601 single base substitution A G intron_variant MALY-DE 11 72836257 72836257 single base substitution G C intron_variant MALY-DE 11 72843183 72843183 single base substitution A C intron_variant MALY-DE 11 72847362 72847362 single base substitution G C intron_variant MALY-DE 11 72849414 72849414 single base substitution A T intron_variant MALY-DE 11 72851034 72851034 single base substitution A G intron_variant MALY-DE 11 72851065 72851065 single base substitution T C intron_variant MALY-DE 11 72851067 72851067 single base substitution T A intron_variant MALY-DE 11 72851289 72851289 single base substitution T C intron_variant MALY-DE 11 72851289 72851289 single base substitution T C upstream_gene_variant MALY-DE 11 72851633 72851633 single base substitution G A intron_variant MALY-DE 11 72851633 72851633 single base substitution G A upstream_gene_variant MALY-DE 11 72851921 72851921 single base substitution G A intron_variant MALY-DE 11 72851921 72851921 single base substitution G A upstream_gene_variant MALY-DE 11 72851934 72851934 single base substitution C T intron_variant MALY-DE 11 72851934 72851934 single base substitution C T upstream_gene_variant MALY-DE 11 72852543 72852543 single base substitution C G intron_variant MALY-DE 11 72852543 72852543 single base substitution C G upstream_gene_variant MALY-DE 11 72856972 72856972 single base substitution C T upstream_gene_variant MELA-AU 11 72543601 72543601 single base substitution G A downstream_gene_variant MELA-AU 11 72543752 72543753 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 72543946 72543950 deletion of <=200bp TCATA - downstream_gene_variant MELA-AU 11 72543953 72543953 single base substitution C T downstream_gene_variant MELA-AU 11 72544882 72544882 single base substitution C T downstream_gene_variant MELA-AU 11 72547349 72547349 single base substitution G A downstream_gene_variant MELA-AU 11 72547365 72547366 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 72549373 72549374 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 11 72549373 72549374 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 72551402 72551402 single base substitution C T downstream_gene_variant MELA-AU 11 72551402 72551402 single base substitution C T intron_variant MELA-AU 11 72551513 72551513 single base substitution G A downstream_gene_variant MELA-AU 11 72551513 72551513 single base substitution G A intron_variant MELA-AU 11 72551661 72551661 single base substitution C T downstream_gene_variant MELA-AU 11 72551661 72551661 single base substitution C T intron_variant MELA-AU 11 72551678 72551678 single base substitution C T downstream_gene_variant MELA-AU 11 72551678 72551678 single base substitution C T intron_variant MELA-AU 11 72552031 72552031 single base substitution T C downstream_gene_variant MELA-AU 11 72552031 72552031 single base substitution T C intron_variant MELA-AU 11 72552071 72552071 single base substitution G A downstream_gene_variant MELA-AU 11 72552071 72552071 single base substitution G A intron_variant MELA-AU 11 72552440 72552440 single base substitution G A downstream_gene_variant MELA-AU 11 72552440 72552440 single base substitution G A intron_variant MELA-AU 11 72552520 72552520 single base substitution G A downstream_gene_variant MELA-AU 11 72552520 72552520 single base substitution G A missense_variant P40S 118C>T MELA-AU 11 72552520 72552520 single base substitution G A missense_variant P543S 1627C>T MELA-AU 11 72552520 72552520 single base substitution G A missense_variant P623S 1867C>T MELA-AU 11 72552520 72552520 single base substitution G A missense_variant P679S 2035C>T MELA-AU 11 72552520 72552520 single base substitution G A missense_variant P703S 2107C>T MELA-AU 11 72552617 72552617 single base substitution G A downstream_gene_variant MELA-AU 11 72552617 72552617 single base substitution G A synonymous_variant S510S 1530C>T MELA-AU 11 72552617 72552617 single base substitution G A synonymous_variant S590S 1770C>T MELA-AU 11 72552617 72552617 single base substitution G A synonymous_variant S646S 1938C>T MELA-AU 11 72552617 72552617 single base substitution G A synonymous_variant S670S 2010C>T MELA-AU 11 72552617 72552617 single base substitution G A synonymous_variant S7S 21C>T MELA-AU 11 72553793 72553793 single base substitution T G downstream_gene_variant MELA-AU 11 72553793 72553793 single base substitution T G intron_variant MELA-AU 11 72553793 72553793 single base substitution T G missense_variant E464A 1391A>C MELA-AU 11 72553793 72553793 single base substitution T G missense_variant E544A 1631A>C MELA-AU 11 72553793 72553793 single base substitution T G missense_variant E600A 1799A>C MELA-AU 11 72553793 72553793 single base substitution T G missense_variant E624A 1871A>C MELA-AU 11 72555484 72555484 single base substitution C T intron_variant MELA-AU 11 72555484 72555484 single base substitution C T upstream_gene_variant MELA-AU 11 72556026 72556026 single base substitution C T intron_variant MELA-AU 11 72556026 72556026 single base substitution C T upstream_gene_variant MELA-AU 11 72556982 72556982 single base substitution A G intron_variant MELA-AU 11 72556982 72556982 single base substitution A G upstream_gene_variant MELA-AU 11 72557100 72557100 single base substitution G A intron_variant MELA-AU 11 72557100 72557100 single base substitution G A upstream_gene_variant MELA-AU 11 72557357 72557357 single base substitution C G intron_variant MELA-AU 11 72557357 72557357 single base substitution C G upstream_gene_variant MELA-AU 11 72557827 72557827 single base substitution C T intron_variant MELA-AU 11 72557827 72557827 single base substitution C T upstream_gene_variant MELA-AU 11 72558551 72558551 single base substitution G A intron_variant MELA-AU 11 72558551 72558551 single base substitution G A upstream_gene_variant MELA-AU 11 72559157 72559157 single base substitution C T intron_variant MELA-AU 11 72559157 72559157 single base substitution C T upstream_gene_variant MELA-AU 11 72559819 72559819 single base substitution A G intron_variant MELA-AU 11 72560939 72560939 single base substitution G A intron_variant MELA-AU 11 72560939 72560939 single base substitution G A splice_region_variant MELA-AU 11 72561766 72561766 single base substitution C T intron_variant MELA-AU 11 72562294 72562294 single base substitution G A intron_variant MELA-AU 11 72562494 72562494 single base substitution A G intron_variant MELA-AU 11 72562732 72562732 single base substitution G A intron_variant MELA-AU 11 72563015 72563016 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 72563288 72563288 single base substitution G A intron_variant MELA-AU 11 72563296 72563296 single base substitution G A intron_variant MELA-AU 11 72564235 72564235 single base substitution T C intron_variant MELA-AU 11 72564456 72564456 single base substitution G A intron_variant MELA-AU 11 72564468 72564468 single base substitution G A intron_variant MELA-AU 11 72565707 72565707 single base substitution C T intron_variant MELA-AU 11 72566325 72566325 insertion of <=200bp - AAAC intron_variant MELA-AU 11 72566436 72566436 single base substitution A C intron_variant MELA-AU 11 72566642 72566642 single base substitution G A intron_variant MELA-AU 11 72568000 72568000 single base substitution A T intron_variant MELA-AU 11 72568083 72568083 single base substitution G A intron_variant MELA-AU 11 72569633 72569633 single base substitution G A intron_variant MELA-AU 11 72569634 72569634 single base substitution G A intron_variant MELA-AU 11 72569664 72569664 single base substitution G A intron_variant MELA-AU 11 72569994 72569994 single base substitution G A intron_variant MELA-AU 11 72570838 72570838 single base substitution G A intron_variant MELA-AU 11 72571303 72571303 single base substitution A G intron_variant MELA-AU 11 72571524 72571524 single base substitution G A intron_variant MELA-AU 11 72571902 72571902 single base substitution G A intron_variant MELA-AU 11 72571928 72571928 single base substitution G A intron_variant MELA-AU 11 72572284 72572284 single base substitution A G intron_variant MELA-AU 11 72572417 72572417 single base substitution G A intron_variant MELA-AU 11 72572559 72572559 single base substitution G A intron_variant MELA-AU 11 72573241 72573241 single base substitution T G intron_variant MELA-AU 11 72573785 72573785 single base substitution G A intron_variant MELA-AU 11 72575415 72575415 single base substitution G A intron_variant MELA-AU 11 72577268 72577268 single base substitution G A intron_variant MELA-AU 11 72577435 72577435 single base substitution C T intron_variant MELA-AU 11 72577448 72577448 single base substitution G A intron_variant MELA-AU 11 72577449 72577449 single base substitution G A intron_variant MELA-AU 11 72577720 72577720 single base substitution G A intron_variant MELA-AU 11 72578148 72578148 single base substitution C G intron_variant MELA-AU 11 72578290 72578290 single base substitution G A intron_variant MELA-AU 11 72578623 72578623 single base substitution G A intron_variant MELA-AU 11 72579048 72579048 single base substitution G A exon_variant MELA-AU 11 72579048 72579048 single base substitution G A synonymous_variant A254A 762C>T MELA-AU 11 72579048 72579048 single base substitution G A synonymous_variant A334A 1002C>T MELA-AU 11 72579048 72579048 single base substitution G A synonymous_variant A390A 1170C>T MELA-AU 11 72579048 72579048 single base substitution G A synonymous_variant A414A 1242C>T MELA-AU 11 72579642 72579642 single base substitution G A intron_variant MELA-AU 11 72580461 72580461 single base substitution G A intron_variant MELA-AU 11 72581321 72581321 single base substitution G A intron_variant MELA-AU 11 72581747 72581747 single base substitution C T intron_variant MELA-AU 11 72581797 72581797 single base substitution T A intron_variant MELA-AU 11 72582338 72582338 single base substitution G A intron_variant MELA-AU 11 72583169 72583169 single base substitution T C intron_variant MELA-AU 11 72583588 72583588 single base substitution A T intron_variant MELA-AU 11 72584231 72584231 single base substitution G A intron_variant MELA-AU 11 72584414 72584414 single base substitution G A intron_variant MELA-AU 11 72584884 72584884 single base substitution A G intron_variant MELA-AU 11 72585505 72585505 single base substitution G A intron_variant MELA-AU 11 72587214 72587214 single base substitution G A intron_variant MELA-AU 11 72587302 72587302 single base substitution G A intron_variant MELA-AU 11 72587923 72587923 single base substitution T A intron_variant MELA-AU 11 72587931 72587931 single base substitution G A intron_variant MELA-AU 11 72588166 72588166 single base substitution G A intron_variant MELA-AU 11 72588598 72588598 single base substitution A G intron_variant MELA-AU 11 72589093 72589093 single base substitution G A intron_variant MELA-AU 11 72589247 72589247 single base substitution C T intron_variant MELA-AU 11 72589688 72589688 single base substitution G A intron_variant MELA-AU 11 72589778 72589778 single base substitution G A intron_variant MELA-AU 11 72590110 72590110 single base substitution A C intron_variant MELA-AU 11 72590217 72590217 single base substitution G A intron_variant MELA-AU 11 72591549 72591549 single base substitution C T intron_variant MELA-AU 11 72592112 72592112 single base substitution G A intron_variant MELA-AU 11 72592511 72592511 single base substitution G A intron_variant MELA-AU 11 72592785 72592785 single base substitution G A intron_variant MELA-AU 11 72593123 72593123 single base substitution G A intron_variant MELA-AU 11 72593511 72593511 single base substitution G A intron_variant MELA-AU 11 72593602 72593602 single base substitution G A intron_variant MELA-AU 11 72593618 72593618 single base substitution G T intron_variant MELA-AU 11 72593912 72593912 single base substitution C T intron_variant MELA-AU 11 72594179 72594179 single base substitution C A intron_variant MELA-AU 11 72595925 72595925 single base substitution C T intron_variant MELA-AU 11 72596106 72596106 single base substitution G A intron_variant MELA-AU 11 72596200 72596200 single base substitution T C intron_variant MELA-AU 11 72596414 72596414 single base substitution T C intron_variant MELA-AU 11 72596596 72596596 single base substitution G A intron_variant MELA-AU 11 72597874 72597874 single base substitution G A intron_variant MELA-AU 11 72598075 72598075 single base substitution G A intron_variant MELA-AU 11 72598818 72598818 single base substitution G A intron_variant MELA-AU 11 72598818 72598818 single base substitution G A upstream_gene_variant MELA-AU 11 72599272 72599272 single base substitution C T intron_variant MELA-AU 11 72599272 72599272 single base substitution C T upstream_gene_variant MELA-AU 11 72600199 72600199 single base substitution C T intron_variant MELA-AU 11 72600199 72600199 single base substitution C T upstream_gene_variant MELA-AU 11 72600490 72600490 single base substitution G A intron_variant MELA-AU 11 72600490 72600490 single base substitution G A upstream_gene_variant MELA-AU 11 72600561 72600561 single base substitution C T intron_variant MELA-AU 11 72600561 72600561 single base substitution C T upstream_gene_variant MELA-AU 11 72601903 72601903 single base substitution G A intron_variant MELA-AU 11 72601903 72601903 single base substitution G A upstream_gene_variant MELA-AU 11 72601938 72601938 single base substitution G A intron_variant MELA-AU 11 72601938 72601938 single base substitution G A upstream_gene_variant MELA-AU 11 72602545 72602545 single base substitution G A intron_variant MELA-AU 11 72602545 72602545 single base substitution G A upstream_gene_variant MELA-AU 11 72604005 72604005 single base substitution C T intron_variant MELA-AU 11 72604780 72604780 single base substitution G A intron_variant MELA-AU 11 72604873 72604873 single base substitution A C intron_variant MELA-AU 11 72604976 72604976 single base substitution G A intron_variant MELA-AU 11 72605365 72605365 single base substitution A C intron_variant MELA-AU 11 72605457 72605457 single base substitution C G intron_variant MELA-AU 11 72605770 72605770 single base substitution A G intron_variant MELA-AU 11 72605782 72605782 single base substitution T C intron_variant MELA-AU 11 72606058 72606058 single base substitution A G intron_variant MELA-AU 11 72606169 72606169 single base substitution G A intron_variant MELA-AU 11 72606454 72606454 single base substitution C T intron_variant MELA-AU 11 72606715 72606715 single base substitution G A intron_variant MELA-AU 11 72607351 72607351 single base substitution G A intron_variant MELA-AU 11 72607551 72607551 single base substitution G A intron_variant MELA-AU 11 72607800 72607800 single base substitution G A intron_variant MELA-AU 11 72607801 72607801 single base substitution G A intron_variant MELA-AU 11 72608065 72608065 single base substitution G A intron_variant MELA-AU 11 72608486 72608486 single base substitution G A intron_variant MELA-AU 11 72608809 72608810 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 72609909 72609909 single base substitution G A intron_variant MELA-AU 11 72610214 72610214 single base substitution G A intron_variant MELA-AU 11 72610459 72610459 single base substitution G A intron_variant MELA-AU 11 72610502 72610502 single base substitution G A intron_variant MELA-AU 11 72610701 72610701 single base substitution G A intron_variant MELA-AU 11 72610907 72610908 multiple base substitution (>=2bp and <=200bp) CT GA intron_variant MELA-AU 11 72611105 72611105 single base substitution G A intron_variant MELA-AU 11 72611189 72611189 single base substitution G A intron_variant MELA-AU 11 72611264 72611264 single base substitution T A intron_variant MELA-AU 11 72611776 72611776 single base substitution G A intron_variant MELA-AU 11 72612118 72612118 single base substitution G A intron_variant MELA-AU 11 72612758 72612758 single base substitution G A intron_variant MELA-AU 11 72613071 72613071 single base substitution G A intron_variant MELA-AU 11 72613173 72613173 single base substitution G A intron_variant MELA-AU 11 72613281 72613281 single base substitution G A intron_variant MELA-AU 11 72613691 72613691 single base substitution G A splice_region_variant MELA-AU 11 72614233 72614233 single base substitution T C intron_variant MELA-AU 11 72614510 72614510 single base substitution G A intron_variant MELA-AU 11 72615614 72615614 single base substitution C T intron_variant MELA-AU 11 72616056 72616056 single base substitution G A intron_variant MELA-AU 11 72616902 72616902 single base substitution G A intron_variant MELA-AU 11 72616972 72616972 single base substitution G A intron_variant MELA-AU 11 72617418 72617418 single base substitution G A intron_variant MELA-AU 11 72617799 72617799 single base substitution G A intron_variant MELA-AU 11 72617888 72617888 single base substitution G A intron_variant MELA-AU 11 72617972 72617972 single base substitution G A intron_variant MELA-AU 11 72618118 72618118 single base substitution G A intron_variant MELA-AU 11 72618209 72618209 single base substitution G A intron_variant MELA-AU 11 72618716 72618716 single base substitution A G intron_variant MELA-AU 11 72619000 72619000 single base substitution G A intron_variant MELA-AU 11 72620065 72620065 single base substitution G A intron_variant MELA-AU 11 72620180 72620180 single base substitution C T intron_variant MELA-AU 11 72620272 72620272 single base substitution G A intron_variant MELA-AU 11 72620339 72620339 single base substitution C T intron_variant MELA-AU 11 72620436 72620436 single base substitution C T intron_variant MELA-AU 11 72620714 72620714 single base substitution G A intron_variant MELA-AU 11 72620751 72620751 single base substitution G A intron_variant MELA-AU 11 72620791 72620791 single base substitution G A intron_variant MELA-AU 11 72620851 72620851 single base substitution G A intron_variant MELA-AU 11 72620972 72620972 single base substitution C G intron_variant MELA-AU 11 72621038 72621038 single base substitution G A intron_variant MELA-AU 11 72621050 72621050 single base substitution A G intron_variant MELA-AU 11 72621089 72621089 single base substitution G A intron_variant MELA-AU 11 72621145 72621145 single base substitution C T intron_variant MELA-AU 11 72621165 72621165 single base substitution G A intron_variant MELA-AU 11 72621274 72621274 single base substitution C A intron_variant MELA-AU 11 72621424 72621424 single base substitution G A intron_variant MELA-AU 11 72621438 72621438 single base substitution G A intron_variant MELA-AU 11 72621557 72621557 single base substitution C G intron_variant MELA-AU 11 72621789 72621789 single base substitution C A intron_variant MELA-AU 11 72622180 72622180 single base substitution A G intron_variant MELA-AU 11 72622238 72622238 single base substitution C T intron_variant MELA-AU 11 72622648 72622648 single base substitution C T intron_variant MELA-AU 11 72622699 72622699 single base substitution A G intron_variant MELA-AU 11 72624058 72624058 single base substitution G A intron_variant MELA-AU 11 72624089 72624089 single base substitution G A intron_variant MELA-AU 11 72624178 72624178 single base substitution G A intron_variant MELA-AU 11 72624184 72624184 single base substitution C T intron_variant MELA-AU 11 72624476 72624476 single base substitution G A intron_variant MELA-AU 11 72625252 72625252 single base substitution G A intron_variant MELA-AU 11 72625682 72625682 single base substitution G A intron_variant MELA-AU 11 72625882 72625882 single base substitution G A intron_variant MELA-AU 11 72625931 72625931 single base substitution G A intron_variant MELA-AU 11 72626212 72626212 single base substitution C A intron_variant MELA-AU 11 72626636 72626636 single base substitution G A intron_variant MELA-AU 11 72626656 72626656 single base substitution G A intron_variant MELA-AU 11 72626886 72626886 single base substitution G A intron_variant MELA-AU 11 72627009 72627009 single base substitution G A intron_variant MELA-AU 11 72627124 72627124 single base substitution G A intron_variant MELA-AU 11 72627126 72627126 single base substitution G A intron_variant MELA-AU 11 72627337 72627337 single base substitution G A intron_variant MELA-AU 11 72627608 72627608 single base substitution C T intron_variant MELA-AU 11 72627944 72627944 single base substitution A G intron_variant MELA-AU 11 72628700 72628700 single base substitution G A intron_variant MELA-AU 11 72628899 72628899 single base substitution C T intron_variant MELA-AU 11 72628916 72628916 single base substitution G A intron_variant MELA-AU 11 72630800 72630800 single base substitution C T intron_variant MELA-AU 11 72630940 72630940 single base substitution G A intron_variant MELA-AU 11 72631023 72631023 single base substitution G A intron_variant MELA-AU 11 72631078 72631078 single base substitution A T intron_variant MELA-AU 11 72631104 72631104 single base substitution A C intron_variant MELA-AU 11 72632708 72632708 single base substitution G A intron_variant MELA-AU 11 72633345 72633345 single base substitution G A intron_variant MELA-AU 11 72633503 72633503 single base substitution G A intron_variant MELA-AU 11 72633568 72633568 single base substitution A G intron_variant MELA-AU 11 72633624 72633624 single base substitution G A intron_variant MELA-AU 11 72634060 72634060 single base substitution G A intron_variant MELA-AU 11 72634968 72634968 single base substitution G A intron_variant MELA-AU 11 72635255 72635255 single base substitution G A intron_variant MELA-AU 11 72635814 72635814 single base substitution G A intron_variant MELA-AU 11 72635887 72635887 single base substitution A G intron_variant MELA-AU 11 72636093 72636093 single base substitution A C intron_variant MELA-AU 11 72636234 72636234 single base substitution G A intron_variant MELA-AU 11 72636296 72636296 single base substitution A G intron_variant MELA-AU 11 72636551 72636551 single base substitution A G intron_variant MELA-AU 11 72636628 72636628 single base substitution G A intron_variant MELA-AU 11 72636765 72636765 single base substitution G A intron_variant MELA-AU 11 72636952 72636952 single base substitution A C intron_variant MELA-AU 11 72637108 72637108 single base substitution G A intron_variant MELA-AU 11 72637650 72637650 single base substitution G A intron_variant MELA-AU 11 72638516 72638516 single base substitution A T intron_variant MELA-AU 11 72638849 72638849 single base substitution A T intron_variant MELA-AU 11 72639913 72639913 single base substitution C T intron_variant MELA-AU 11 72640338 72640338 single base substitution G A intron_variant MELA-AU 11 72640871 72640871 single base substitution C T intron_variant MELA-AU 11 72640914 72640914 single base substitution A C intron_variant MELA-AU 11 72641544 72641544 single base substitution C T intron_variant MELA-AU 11 72641740 72641740 single base substitution A G intron_variant MELA-AU 11 72642097 72642097 insertion of <=200bp - AT intron_variant MELA-AU 11 72642097 72642098 deletion of <=200bp AT - intron_variant MELA-AU 11 72642490 72642490 single base substitution T G intron_variant MELA-AU 11 72642596 72642596 single base substitution G A intron_variant MELA-AU 11 72643033 72643033 single base substitution A G intron_variant MELA-AU 11 72644051 72644051 single base substitution A G intron_variant MELA-AU 11 72644248 72644248 single base substitution G A intron_variant MELA-AU 11 72644399 72644399 single base substitution G A intron_variant MELA-AU 11 72644736 72644736 single base substitution C T intron_variant MELA-AU 11 72644840 72644840 single base substitution T A intron_variant MELA-AU 11 72646604 72646604 single base substitution C T intron_variant MELA-AU 11 72646901 72646901 single base substitution G A intron_variant MELA-AU 11 72647418 72647418 single base substitution A G intron_variant MELA-AU 11 72647448 72647448 single base substitution A C intron_variant MELA-AU 11 72648481 72648481 single base substitution T C intron_variant MELA-AU 11 72649451 72649451 single base substitution G A intron_variant MELA-AU 11 72649713 72649713 single base substitution C T intron_variant MELA-AU 11 72649987 72649987 single base substitution G T intron_variant MELA-AU 11 72650531 72650531 single base substitution T A intron_variant MELA-AU 11 72650694 72650694 single base substitution C T intron_variant MELA-AU 11 72650744 72650744 single base substitution A G intron_variant MELA-AU 11 72650799 72650799 single base substitution G A intron_variant MELA-AU 11 72650889 72650890 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 72651161 72651161 single base substitution C T intron_variant MELA-AU 11 72651731 72651731 single base substitution G A intron_variant MELA-AU 11 72651768 72651768 single base substitution C T intron_variant MELA-AU 11 72652515 72652515 single base substitution C T intron_variant MELA-AU 11 72652520 72652520 single base substitution A C intron_variant MELA-AU 11 72652530 72652530 single base substitution A T intron_variant MELA-AU 11 72654621 72654621 single base substitution G A intron_variant MELA-AU 11 72655581 72655581 single base substitution G A intron_variant MELA-AU 11 72655771 72655771 deletion of <=200bp A - intron_variant MELA-AU 11 72656155 72656155 single base substitution G A intron_variant MELA-AU 11 72656409 72656409 single base substitution G A intron_variant MELA-AU 11 72656961 72656961 single base substitution G A intron_variant MELA-AU 11 72657206 72657206 single base substitution G A intron_variant MELA-AU 11 72657402 72657402 single base substitution G A intron_variant MELA-AU 11 72657458 72657458 single base substitution G T intron_variant MELA-AU 11 72657884 72657884 single base substitution G A intron_variant MELA-AU 11 72658058 72658058 single base substitution G T intron_variant MELA-AU 11 72658127 72658127 single base substitution C T intron_variant MELA-AU 11 72658149 72658149 single base substitution A T intron_variant MELA-AU 11 72658166 72658166 single base substitution G A intron_variant MELA-AU 11 72659028 72659028 single base substitution G A intron_variant MELA-AU 11 72659387 72659387 single base substitution A G intron_variant MELA-AU 11 72659412 72659412 single base substitution C G intron_variant MELA-AU 11 72659512 72659512 single base substitution C T intron_variant MELA-AU 11 72659853 72659853 single base substitution G A intron_variant MELA-AU 11 72660309 72660309 single base substitution A G intron_variant MELA-AU 11 72661591 72661591 single base substitution G C intron_variant MELA-AU 11 72661906 72661906 single base substitution G A intron_variant MELA-AU 11 72663003 72663003 single base substitution G A intron_variant MELA-AU 11 72663264 72663264 single base substitution T C intron_variant MELA-AU 11 72663769 72663769 single base substitution G A intron_variant MELA-AU 11 72663933 72663934 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 72664850 72664850 single base substitution G A intron_variant MELA-AU 11 72664964 72664964 single base substitution T A intron_variant MELA-AU 11 72665240 72665240 single base substitution G A intron_variant MELA-AU 11 72665705 72665705 single base substitution G A intron_variant MELA-AU 11 72666565 72666565 single base substitution G A intron_variant MELA-AU 11 72666743 72666744 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 72667034 72667034 single base substitution G A intron_variant MELA-AU 11 72667438 72667438 single base substitution G A intron_variant MELA-AU 11 72667814 72667814 single base substitution G A intron_variant MELA-AU 11 72667846 72667846 single base substitution G A intron_variant MELA-AU 11 72669109 72669109 single base substitution A G intron_variant MELA-AU 11 72669421 72669421 single base substitution G A intron_variant MELA-AU 11 72669466 72669466 single base substitution G A intron_variant MELA-AU 11 72669504 72669505 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 11 72670305 72670305 single base substitution C T intron_variant MELA-AU 11 72671253 72671253 single base substitution G A intron_variant MELA-AU 11 72671317 72671317 single base substitution G A intron_variant MELA-AU 11 72671453 72671453 single base substitution C T intron_variant MELA-AU 11 72671591 72671591 single base substitution C T intron_variant MELA-AU 11 72671767 72671767 single base substitution A T intron_variant MELA-AU 11 72671798 72671798 single base substitution G A intron_variant MELA-AU 11 72671934 72671934 single base substitution G A intron_variant MELA-AU 11 72672354 72672354 single base substitution G A intron_variant MELA-AU 11 72673042 72673042 single base substitution T C intron_variant MELA-AU 11 72673370 72673370 single base substitution G A intron_variant MELA-AU 11 72673646 72673646 single base substitution C T intron_variant MELA-AU 11 72675234 72675234 single base substitution G A intron_variant MELA-AU 11 72675898 72675898 single base substitution G C intron_variant MELA-AU 11 72676363 72676363 single base substitution G A intron_variant MELA-AU 11 72677160 72677160 single base substitution C T intron_variant MELA-AU 11 72677340 72677340 single base substitution G T intron_variant MELA-AU 11 72677960 72677960 single base substitution G A intron_variant MELA-AU 11 72678004 72678004 single base substitution G A intron_variant MELA-AU 11 72678053 72678053 single base substitution C T intron_variant MELA-AU 11 72678654 72678654 single base substitution G A intron_variant MELA-AU 11 72678663 72678663 single base substitution G A intron_variant MELA-AU 11 72678679 72678680 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 72678687 72678687 single base substitution G A intron_variant MELA-AU 11 72678764 72678764 single base substitution A C intron_variant MELA-AU 11 72678768 72678768 single base substitution A C intron_variant MELA-AU 11 72679142 72679142 single base substitution A G intron_variant MELA-AU 11 72679322 72679322 single base substitution C T intron_variant MELA-AU 11 72679636 72679636 single base substitution G A intron_variant MELA-AU 11 72679666 72679666 single base substitution G A intron_variant MELA-AU 11 72679706 72679706 single base substitution G A intron_variant MELA-AU 11 72681151 72681151 single base substitution G A intron_variant MELA-AU 11 72681402 72681402 single base substitution T C intron_variant MELA-AU 11 72681520 72681520 single base substitution G T intron_variant MELA-AU 11 72681556 72681556 single base substitution G A intron_variant MELA-AU 11 72681834 72681834 single base substitution A C intron_variant MELA-AU 11 72682040 72682040 single base substitution G A intron_variant MELA-AU 11 72682088 72682088 single base substitution G A intron_variant MELA-AU 11 72683293 72683293 single base substitution G A intron_variant MELA-AU 11 72684109 72684109 single base substitution C T intron_variant MELA-AU 11 72685326 72685326 single base substitution G A intron_variant MELA-AU 11 72685353 72685353 single base substitution C T intron_variant MELA-AU 11 72685832 72685832 single base substitution C T intron_variant MELA-AU 11 72686268 72686268 single base substitution G A intron_variant MELA-AU 11 72687355 72687355 single base substitution G A intron_variant MELA-AU 11 72687650 72687650 single base substitution G A intron_variant MELA-AU 11 72687700 72687700 single base substitution C T intron_variant MELA-AU 11 72687847 72687847 single base substitution G A intron_variant MELA-AU 11 72688061 72688061 single base substitution C T intron_variant MELA-AU 11 72688490 72688490 single base substitution G A intron_variant MELA-AU 11 72688550 72688550 single base substitution A T intron_variant MELA-AU 11 72688867 72688867 single base substitution C T intron_variant MELA-AU 11 72688893 72688893 single base substitution G T intron_variant MELA-AU 11 72689972 72689972 single base substitution G A downstream_gene_variant MELA-AU 11 72689972 72689972 single base substitution G A intron_variant MELA-AU 11 72690108 72690108 single base substitution T G downstream_gene_variant MELA-AU 11 72690108 72690108 single base substitution T G intron_variant MELA-AU 11 72690652 72690652 single base substitution T A downstream_gene_variant MELA-AU 11 72690652 72690652 single base substitution T A intron_variant MELA-AU 11 72691006 72691006 single base substitution G A downstream_gene_variant MELA-AU 11 72691006 72691006 single base substitution G A intron_variant MELA-AU 11 72691048 72691048 single base substitution G A downstream_gene_variant MELA-AU 11 72691048 72691048 single base substitution G A intron_variant MELA-AU 11 72691051 72691051 single base substitution G A downstream_gene_variant MELA-AU 11 72691051 72691051 single base substitution G A intron_variant MELA-AU 11 72691306 72691306 single base substitution G A downstream_gene_variant MELA-AU 11 72691306 72691306 single base substitution G A intron_variant MELA-AU 11 72691427 72691427 single base substitution G C downstream_gene_variant MELA-AU 11 72691427 72691427 single base substitution G C intron_variant MELA-AU 11 72691470 72691470 single base substitution C T downstream_gene_variant MELA-AU 11 72691470 72691470 single base substitution C T intron_variant MELA-AU 11 72692069 72692069 single base substitution G A downstream_gene_variant MELA-AU 11 72692069 72692069 single base substitution G A intron_variant MELA-AU 11 72692085 72692085 single base substitution G A downstream_gene_variant MELA-AU 11 72692085 72692085 single base substitution G A intron_variant MELA-AU 11 72692727 72692727 single base substitution G A downstream_gene_variant MELA-AU 11 72692727 72692727 single base substitution G A intron_variant MELA-AU 11 72692842 72692842 single base substitution G A downstream_gene_variant MELA-AU 11 72692842 72692842 single base substitution G A intron_variant MELA-AU 11 72693600 72693600 single base substitution G A downstream_gene_variant MELA-AU 11 72693600 72693600 single base substitution G A intron_variant MELA-AU 11 72693639 72693641 deletion of <=200bp CTA - downstream_gene_variant MELA-AU 11 72693639 72693641 deletion of <=200bp CTA - intron_variant MELA-AU 11 72694073 72694073 single base substitution C T downstream_gene_variant MELA-AU 11 72694073 72694073 single base substitution C T intron_variant MELA-AU 11 72694075 72694075 single base substitution C A downstream_gene_variant MELA-AU 11 72694075 72694075 single base substitution C A intron_variant MELA-AU 11 72694350 72694350 single base substitution A T downstream_gene_variant MELA-AU 11 72694350 72694350 single base substitution A T intron_variant MELA-AU 11 72694694 72694694 single base substitution A T downstream_gene_variant MELA-AU 11 72694694 72694694 single base substitution A T intron_variant MELA-AU 11 72695136 72695136 single base substitution C T downstream_gene_variant MELA-AU 11 72695136 72695136 single base substitution C T missense_variant M178I 534G>A MELA-AU 11 72695136 72695136 single base substitution C T missense_variant M234I 702G>A MELA-AU 11 72695136 72695136 single base substitution C T missense_variant M74I 222G>A MELA-AU 11 72695136 72695136 single base substitution C T missense_variant M76I 228G>A MELA-AU 11 72695298 72695298 single base substitution G A downstream_gene_variant MELA-AU 11 72695298 72695298 single base substitution G A intron_variant MELA-AU 11 72695996 72695996 single base substitution A G downstream_gene_variant MELA-AU 11 72695996 72695996 single base substitution A G intron_variant MELA-AU 11 72696142 72696142 single base substitution G A downstream_gene_variant MELA-AU 11 72696142 72696142 single base substitution G A stop_gained Q125* 373C>T MELA-AU 11 72696142 72696142 single base substitution G A stop_gained Q181* 541C>T MELA-AU 11 72696142 72696142 single base substitution G A stop_gained Q21* 61C>T MELA-AU 11 72696142 72696142 single base substitution G A stop_gained Q23* 67C>T MELA-AU 11 72696630 72696630 single base substitution C T downstream_gene_variant MELA-AU 11 72696630 72696630 single base substitution C T intron_variant MELA-AU 11 72698918 72698918 single base substitution G A downstream_gene_variant MELA-AU 11 72698918 72698918 single base substitution G A intron_variant MELA-AU 11 72699647 72699647 single base substitution G A downstream_gene_variant MELA-AU 11 72699647 72699647 single base substitution G A intron_variant MELA-AU 11 72700201 72700201 single base substitution C T intron_variant MELA-AU 11 72700201 72700201 single base substitution C T upstream_gene_variant MELA-AU 11 72701295 72701295 single base substitution T C intron_variant MELA-AU 11 72701295 72701295 single base substitution T C upstream_gene_variant MELA-AU 11 72702312 72702312 single base substitution G A intron_variant MELA-AU 11 72702312 72702312 single base substitution G A upstream_gene_variant MELA-AU 11 72702710 72702710 single base substitution G A intron_variant MELA-AU 11 72702710 72702710 single base substitution G A upstream_gene_variant MELA-AU 11 72703479 72703479 single base substitution G A intron_variant MELA-AU 11 72703479 72703479 single base substitution G A upstream_gene_variant MELA-AU 11 72703503 72703503 single base substitution T C intron_variant MELA-AU 11 72703503 72703503 single base substitution T C upstream_gene_variant MELA-AU 11 72705377 72705377 single base substitution C T intron_variant MELA-AU 11 72705414 72705414 single base substitution C T intron_variant MELA-AU 11 72705533 72705533 single base substitution G A intron_variant MELA-AU 11 72705958 72705958 single base substitution A G intron_variant MELA-AU 11 72706274 72706274 single base substitution G A intron_variant MELA-AU 11 72706896 72706896 single base substitution G A intron_variant MELA-AU 11 72707013 72707013 single base substitution G A intron_variant MELA-AU 11 72707226 72707226 single base substitution G A intron_variant MELA-AU 11 72707326 72707326 single base substitution A C intron_variant MELA-AU 11 72707344 72707344 single base substitution C T intron_variant MELA-AU 11 72708733 72708733 single base substitution C T intron_variant MELA-AU 11 72708794 72708794 single base substitution G A intron_variant MELA-AU 11 72708880 72708880 single base substitution G A intron_variant MELA-AU 11 72709174 72709174 single base substitution G A intron_variant MELA-AU 11 72709860 72709860 single base substitution G A intron_variant MELA-AU 11 72709982 72709982 single base substitution G A intron_variant MELA-AU 11 72710555 72710556 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 72710923 72710923 single base substitution C A intron_variant MELA-AU 11 72710933 72710933 single base substitution A C intron_variant MELA-AU 11 72711486 72711486 single base substitution G A intron_variant MELA-AU 11 72711603 72711603 single base substitution G A intron_variant MELA-AU 11 72711781 72711782 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 72712626 72712626 single base substitution G A intron_variant MELA-AU 11 72713349 72713349 single base substitution G A intron_variant MELA-AU 11 72713643 72713643 single base substitution A T intron_variant MELA-AU 11 72714856 72714856 single base substitution G A intron_variant MELA-AU 11 72714973 72714973 single base substitution G A intron_variant MELA-AU 11 72715107 72715107 single base substitution T C intron_variant MELA-AU 11 72716154 72716154 single base substitution A G intron_variant MELA-AU 11 72717773 72717773 single base substitution T C intron_variant MELA-AU 11 72718242 72718242 single base substitution A C intron_variant MELA-AU 11 72718395 72718407 deletion of <=200bp GTGGCTCACGCAT - intron_variant MELA-AU 11 72718399 72718399 single base substitution C T intron_variant MELA-AU 11 72718442 72718442 single base substitution G A intron_variant MELA-AU 11 72718531 72718531 single base substitution G A intron_variant MELA-AU 11 72718568 72718568 single base substitution G A intron_variant MELA-AU 11 72718676 72718676 single base substitution G A intron_variant MELA-AU 11 72718719 72718719 single base substitution C A intron_variant MELA-AU 11 72719107 72719107 single base substitution G A intron_variant MELA-AU 11 72719738 72719738 single base substitution G A intron_variant MELA-AU 11 72720200 72720200 single base substitution G A intron_variant MELA-AU 11 72720236 72720236 single base substitution G A intron_variant MELA-AU 11 72720299 72720300 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 72721590 72721590 single base substitution G A intron_variant MELA-AU 11 72721681 72721681 single base substitution G A intron_variant MELA-AU 11 72722178 72722178 single base substitution G A intron_variant MELA-AU 11 72722204 72722205 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 72723450 72723450 single base substitution G A intron_variant MELA-AU 11 72723578 72723578 single base substitution G A intron_variant MELA-AU 11 72723747 72723748 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 11 72723884 72723885 deletion of <=200bp AC - intron_variant MELA-AU 11 72723888 72723888 insertion of <=200bp - A intron_variant MELA-AU 11 72724595 72724595 single base substitution A G intron_variant MELA-AU 11 72724728 72724728 single base substitution G A intron_variant MELA-AU 11 72724810 72724812 multiple base substitution (>=2bp and <=200bp) GGA TAG intron_variant MELA-AU 11 72725814 72725814 single base substitution G A intron_variant MELA-AU 11 72725831 72725831 single base substitution G A intron_variant MELA-AU 11 72726734 72726734 single base substitution G A intron_variant MELA-AU 11 72727166 72727166 single base substitution G A intron_variant MELA-AU 11 72727496 72727496 single base substitution G A intron_variant MELA-AU 11 72728240 72728240 single base substitution G T intron_variant MELA-AU 11 72728254 72728254 single base substitution G A intron_variant MELA-AU 11 72729098 72729098 single base substitution G A intron_variant MELA-AU 11 72729897 72729897 single base substitution G T intron_variant MELA-AU 11 72730587 72730587 single base substitution G A intron_variant MELA-AU 11 72731663 72731663 single base substitution G A intron_variant MELA-AU 11 72732034 72732034 single base substitution C T intron_variant MELA-AU 11 72732641 72732641 single base substitution T A intron_variant MELA-AU 11 72732676 72732676 single base substitution G A intron_variant MELA-AU 11 72732770 72732770 single base substitution A C intron_variant MELA-AU 11 72732938 72732938 single base substitution G A intron_variant MELA-AU 11 72733042 72733042 single base substitution G C intron_variant MELA-AU 11 72733717 72733717 single base substitution G A intron_variant MELA-AU 11 72734031 72734031 single base substitution C T intron_variant MELA-AU 11 72734270 72734270 single base substitution G A intron_variant MELA-AU 11 72734623 72734623 single base substitution G A intron_variant MELA-AU 11 72735062 72735062 single base substitution G A intron_variant MELA-AU 11 72735618 72735618 single base substitution T C intron_variant MELA-AU 11 72736197 72736197 single base substitution G A intron_variant MELA-AU 11 72736328 72736328 single base substitution A C intron_variant MELA-AU 11 72736396 72736396 single base substitution G A intron_variant MELA-AU 11 72737027 72737027 single base substitution G A intron_variant MELA-AU 11 72737959 72737959 single base substitution G A intron_variant MELA-AU 11 72738265 72738265 single base substitution C T intron_variant MELA-AU 11 72738385 72738385 single base substitution A C intron_variant MELA-AU 11 72738565 72738565 single base substitution G A intron_variant MELA-AU 11 72738783 72738783 single base substitution G A intron_variant MELA-AU 11 72738904 72738904 single base substitution G A intron_variant MELA-AU 11 72738954 72738954 single base substitution G A intron_variant MELA-AU 11 72739100 72739100 single base substitution A C intron_variant MELA-AU 11 72739224 72739224 single base substitution G A intron_variant MELA-AU 11 72739225 72739225 single base substitution G A intron_variant MELA-AU 11 72739295 72739295 single base substitution G A intron_variant MELA-AU 11 72739706 72739706 single base substitution G A intron_variant MELA-AU 11 72739769 72739769 single base substitution G A intron_variant MELA-AU 11 72740280 72740280 single base substitution G A intron_variant MELA-AU 11 72740337 72740337 single base substitution G A intron_variant MELA-AU 11 72740969 72740969 single base substitution G A intron_variant MELA-AU 11 72741015 72741015 single base substitution G A intron_variant MELA-AU 11 72741132 72741132 single base substitution G A intron_variant MELA-AU 11 72741184 72741184 single base substitution G A intron_variant MELA-AU 11 72741302 72741302 single base substitution G A intron_variant MELA-AU 11 72741395 72741395 single base substitution G A intron_variant MELA-AU 11 72741421 72741421 single base substitution G A intron_variant MELA-AU 11 72741422 72741422 single base substitution G A intron_variant MELA-AU 11 72741435 72741435 single base substitution A C intron_variant MELA-AU 11 72741508 72741508 single base substitution G A intron_variant MELA-AU 11 72741618 72741618 single base substitution A C intron_variant MELA-AU 11 72742562 72742562 single base substitution G A intron_variant MELA-AU 11 72742690 72742690 single base substitution C T intron_variant MELA-AU 11 72742916 72742916 single base substitution G A intron_variant MELA-AU 11 72743738 72743738 single base substitution G A intron_variant MELA-AU 11 72743811 72743811 single base substitution G A intron_variant MELA-AU 11 72744227 72744227 single base substitution G A intron_variant MELA-AU 11 72744463 72744463 single base substitution G A intron_variant MELA-AU 11 72745499 72745499 single base substitution G C intron_variant MELA-AU 11 72745610 72745610 single base substitution G A intron_variant MELA-AU 11 72746484 72746484 single base substitution G A intron_variant MELA-AU 11 72747870 72747870 single base substitution G A intron_variant MELA-AU 11 72748581 72748581 single base substitution C T intron_variant MELA-AU 11 72749409 72749409 single base substitution G A intron_variant MELA-AU 11 72749747 72749747 single base substitution G A intron_variant MELA-AU 11 72750119 72750119 single base substitution G A intron_variant MELA-AU 11 72750334 72750334 single base substitution G A intron_variant MELA-AU 11 72750384 72750384 single base substitution G A intron_variant MELA-AU 11 72750409 72750409 single base substitution G A intron_variant MELA-AU 11 72750840 72750840 single base substitution A C intron_variant MELA-AU 11 72751041 72751041 single base substitution G A intron_variant MELA-AU 11 72751668 72751668 single base substitution T G intron_variant MELA-AU 11 72751773 72751773 single base substitution G A intron_variant MELA-AU 11 72752007 72752026 deletion of <=200bp TGAGTGAGAACATGTGATAT - intron_variant MELA-AU 11 72752061 72752061 single base substitution T G intron_variant MELA-AU 11 72752108 72752108 single base substitution T G intron_variant MELA-AU 11 72752581 72752581 single base substitution G A intron_variant MELA-AU 11 72752702 72752702 single base substitution C G intron_variant MELA-AU 11 72753255 72753255 single base substitution C T intron_variant MELA-AU 11 72753582 72753582 single base substitution T C intron_variant MELA-AU 11 72753792 72753792 single base substitution G A intron_variant MELA-AU 11 72754262 72754262 single base substitution G A intron_variant MELA-AU 11 72754521 72754521 single base substitution G A intron_variant MELA-AU 11 72754869 72754869 single base substitution G A intron_variant MELA-AU 11 72754991 72754991 single base substitution G A intron_variant MELA-AU 11 72755415 72755415 single base substitution G A intron_variant MELA-AU 11 72755930 72755953 deletion of <=200bp ACAGTGAAACCCCATCTCTACTAA - intron_variant MELA-AU 11 72755956 72755956 single base substitution A C intron_variant MELA-AU 11 72756143 72756143 single base substitution G A intron_variant MELA-AU 11 72756986 72756986 single base substitution G A intron_variant MELA-AU 11 72757257 72757257 single base substitution G A intron_variant MELA-AU 11 72757481 72757481 single base substitution G A intron_variant MELA-AU 11 72758056 72758056 single base substitution G A intron_variant MELA-AU 11 72758150 72758150 single base substitution A T intron_variant MELA-AU 11 72758152 72758152 single base substitution A T intron_variant MELA-AU 11 72758156 72758156 single base substitution G A intron_variant MELA-AU 11 72758265 72758265 single base substitution G A intron_variant MELA-AU 11 72759570 72759570 single base substitution A C intron_variant MELA-AU 11 72759815 72759815 single base substitution G A intron_variant MELA-AU 11 72759936 72759936 single base substitution G A intron_variant MELA-AU 11 72760599 72760599 single base substitution G A intron_variant MELA-AU 11 72762112 72762112 single base substitution A G intron_variant MELA-AU 11 72762288 72762288 single base substitution G A intron_variant MELA-AU 11 72762486 72762486 single base substitution G A intron_variant MELA-AU 11 72762604 72762604 single base substitution G A intron_variant MELA-AU 11 72764077 72764077 single base substitution G A intron_variant MELA-AU 11 72764285 72764285 single base substitution A G intron_variant MELA-AU 11 72765649 72765649 single base substitution G A intron_variant MELA-AU 11 72765662 72765662 single base substitution G A intron_variant MELA-AU 11 72766080 72766080 single base substitution G A intron_variant MELA-AU 11 72766202 72766202 single base substitution G A intron_variant MELA-AU 11 72767521 72767521 single base substitution G A intron_variant MELA-AU 11 72767608 72767608 single base substitution G A intron_variant MELA-AU 11 72767762 72767762 single base substitution A T intron_variant MELA-AU 11 72767822 72767822 single base substitution G A intron_variant MELA-AU 11 72767823 72767823 single base substitution G A intron_variant MELA-AU 11 72767833 72767833 single base substitution C T intron_variant MELA-AU 11 72769059 72769059 single base substitution G A intron_variant MELA-AU 11 72769086 72769086 single base substitution G A intron_variant MELA-AU 11 72769206 72769206 single base substitution G A intron_variant MELA-AU 11 72769843 72769843 single base substitution C T intron_variant MELA-AU 11 72770091 72770091 single base substitution A G intron_variant MELA-AU 11 72770726 72770726 single base substitution T C intron_variant MELA-AU 11 72771250 72771250 single base substitution G A intron_variant MELA-AU 11 72772260 72772260 single base substitution G A intron_variant MELA-AU 11 72772362 72772362 single base substitution G A intron_variant MELA-AU 11 72772451 72772451 single base substitution G A intron_variant MELA-AU 11 72772457 72772457 single base substitution C T intron_variant MELA-AU 11 72772505 72772505 single base substitution G A intron_variant MELA-AU 11 72772641 72772641 single base substitution G A intron_variant MELA-AU 11 72772673 72772673 single base substitution G A intron_variant MELA-AU 11 72772817 72772817 single base substitution G A intron_variant MELA-AU 11 72772859 72772859 single base substitution G A intron_variant MELA-AU 11 72772877 72772877 single base substitution C T intron_variant MELA-AU 11 72773157 72773157 single base substitution G A intron_variant MELA-AU 11 72773293 72773293 single base substitution G A intron_variant MELA-AU 11 72773511 72773526 deletion of <=200bp GAAGGTGGGTAATAAC - intron_variant MELA-AU 11 72773588 72773588 single base substitution A T intron_variant MELA-AU 11 72773878 72773878 single base substitution A T intron_variant MELA-AU 11 72774057 72774057 single base substitution G A intron_variant MELA-AU 11 72774106 72774106 single base substitution G A intron_variant MELA-AU 11 72774310 72774311 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 72774946 72774946 single base substitution G A intron_variant MELA-AU 11 72775380 72775380 single base substitution G A intron_variant MELA-AU 11 72775402 72775402 single base substitution T C intron_variant MELA-AU 11 72775838 72775838 single base substitution G A intron_variant MELA-AU 11 72775861 72775861 single base substitution G A intron_variant MELA-AU 11 72776020 72776020 single base substitution G A intron_variant MELA-AU 11 72776130 72776130 single base substitution G A intron_variant MELA-AU 11 72776206 72776206 single base substitution G A intron_variant MELA-AU 11 72776561 72776561 single base substitution G A intron_variant MELA-AU 11 72776914 72776914 single base substitution G A intron_variant MELA-AU 11 72776935 72776935 single base substitution G A intron_variant MELA-AU 11 72777459 72777459 single base substitution A T intron_variant MELA-AU 11 72777540 72777540 single base substitution G A intron_variant MELA-AU 11 72777645 72777645 single base substitution G A intron_variant MELA-AU 11 72777855 72777855 single base substitution G A intron_variant MELA-AU 11 72777898 72777898 single base substitution G A intron_variant MELA-AU 11 72778042 72778042 single base substitution G A intron_variant MELA-AU 11 72778211 72778211 single base substitution G A intron_variant MELA-AU 11 72778285 72778285 single base substitution G A intron_variant MELA-AU 11 72780251 72780251 single base substitution G A intron_variant MELA-AU 11 72780887 72780887 single base substitution A T intron_variant MELA-AU 11 72780987 72780987 single base substitution G A intron_variant MELA-AU 11 72782068 72782068 single base substitution G A intron_variant MELA-AU 11 72782282 72782282 single base substitution T C intron_variant MELA-AU 11 72782312 72782312 single base substitution G A intron_variant MELA-AU 11 72782519 72782519 single base substitution G A intron_variant MELA-AU 11 72782800 72782800 single base substitution G A intron_variant MELA-AU 11 72782851 72782851 single base substitution G A intron_variant MELA-AU 11 72782887 72782887 single base substitution G A intron_variant MELA-AU 11 72783592 72783592 single base substitution G A intron_variant MELA-AU 11 72783920 72783920 single base substitution A G intron_variant MELA-AU 11 72784134 72784134 single base substitution G A intron_variant MELA-AU 11 72784301 72784301 single base substitution G A intron_variant MELA-AU 11 72785156 72785156 single base substitution G A intron_variant MELA-AU 11 72785643 72785643 single base substitution A T intron_variant MELA-AU 11 72785997 72785997 single base substitution G A intron_variant MELA-AU 11 72786181 72786181 single base substitution G A intron_variant MELA-AU 11 72786459 72786459 single base substitution G A intron_variant MELA-AU 11 72786528 72786528 single base substitution G A intron_variant MELA-AU 11 72787060 72787060 single base substitution A G intron_variant MELA-AU 11 72787837 72787837 single base substitution G A intron_variant MELA-AU 11 72788294 72788294 single base substitution A C intron_variant MELA-AU 11 72788555 72788555 single base substitution G A intron_variant MELA-AU 11 72788591 72788591 single base substitution G A intron_variant MELA-AU 11 72788803 72788804 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 72788810 72788810 single base substitution G A intron_variant MELA-AU 11 72789032 72789032 single base substitution G A intron_variant MELA-AU 11 72789827 72789827 single base substitution G A intron_variant MELA-AU 11 72789849 72789849 single base substitution G A intron_variant MELA-AU 11 72789951 72789951 single base substitution G A intron_variant MELA-AU 11 72789985 72789985 single base substitution A G intron_variant MELA-AU 11 72791361 72791361 single base substitution A G intron_variant MELA-AU 11 72791482 72791482 single base substitution A T intron_variant MELA-AU 11 72792298 72792298 single base substitution G A intron_variant MELA-AU 11 72792305 72792305 single base substitution C T intron_variant MELA-AU 11 72792315 72792315 single base substitution C T intron_variant MELA-AU 11 72792677 72792677 single base substitution C A intron_variant MELA-AU 11 72793267 72793267 single base substitution A C intron_variant MELA-AU 11 72793397 72793397 single base substitution A G intron_variant MELA-AU 11 72793615 72793615 single base substitution G A intron_variant MELA-AU 11 72793860 72793860 single base substitution G A intron_variant MELA-AU 11 72794144 72794144 single base substitution G A intron_variant MELA-AU 11 72794275 72794275 single base substitution A G intron_variant MELA-AU 11 72794280 72794280 single base substitution G A intron_variant MELA-AU 11 72794580 72794580 single base substitution G A intron_variant MELA-AU 11 72797426 72797426 single base substitution C T intron_variant MELA-AU 11 72799768 72799768 single base substitution C T intron_variant MELA-AU 11 72800947 72800947 single base substitution T A intron_variant MELA-AU 11 72801093 72801093 single base substitution T C intron_variant MELA-AU 11 72801710 72801710 single base substitution G A intron_variant MELA-AU 11 72802488 72802488 single base substitution G A intron_variant MELA-AU 11 72803355 72803355 single base substitution T G intron_variant MELA-AU 11 72805477 72805477 single base substitution G A intron_variant MELA-AU 11 72806031 72806031 single base substitution G A intron_variant MELA-AU 11 72806262 72806262 single base substitution A T intron_variant MELA-AU 11 72807126 72807126 single base substitution A T intron_variant MELA-AU 11 72807268 72807268 single base substitution G A intron_variant MELA-AU 11 72807494 72807494 single base substitution G A intron_variant MELA-AU 11 72808151 72808151 single base substitution A G intron_variant MELA-AU 11 72808383 72808383 single base substitution G A intron_variant MELA-AU 11 72808637 72808637 single base substitution C T intron_variant MELA-AU 11 72810411 72810411 single base substitution T C intron_variant MELA-AU 11 72810663 72810663 single base substitution C T intron_variant MELA-AU 11 72810780 72810780 single base substitution G A intron_variant MELA-AU 11 72810800 72810800 single base substitution C T intron_variant MELA-AU 11 72811263 72811263 single base substitution G A intron_variant MELA-AU 11 72811288 72811288 single base substitution C T intron_variant MELA-AU 11 72811700 72811700 single base substitution G A intron_variant MELA-AU 11 72812212 72812212 single base substitution G A intron_variant MELA-AU 11 72812412 72812412 single base substitution G A intron_variant MELA-AU 11 72812673 72812673 single base substitution G A intron_variant MELA-AU 11 72812841 72812841 single base substitution C T intron_variant MELA-AU 11 72813529 72813529 single base substitution G A intron_variant MELA-AU 11 72815946 72815946 single base substitution G A intron_variant MELA-AU 11 72816289 72816289 single base substitution C T intron_variant MELA-AU 11 72816462 72816463 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 11 72816807 72816807 single base substitution T C intron_variant MELA-AU 11 72818441 72818441 single base substitution G A intron_variant MELA-AU 11 72819161 72819161 single base substitution G A intron_variant MELA-AU 11 72819512 72819512 single base substitution G A intron_variant MELA-AU 11 72819978 72819978 single base substitution G A intron_variant MELA-AU 11 72820636 72820636 single base substitution G A intron_variant MELA-AU 11 72820714 72820714 single base substitution C T intron_variant MELA-AU 11 72820726 72820726 single base substitution G A intron_variant MELA-AU 11 72821125 72821125 single base substitution C T intron_variant MELA-AU 11 72821336 72821336 single base substitution G A intron_variant MELA-AU 11 72821713 72821713 single base substitution T A intron_variant MELA-AU 11 72822491 72822491 single base substitution G A intron_variant MELA-AU 11 72822764 72822764 single base substitution G A intron_variant MELA-AU 11 72823617 72823617 single base substitution A G intron_variant MELA-AU 11 72823849 72823849 single base substitution A C intron_variant MELA-AU 11 72825004 72825004 single base substitution G A intron_variant MELA-AU 11 72825404 72825404 single base substitution C T intron_variant MELA-AU 11 72825772 72825772 single base substitution C T intron_variant MELA-AU 11 72827708 72827708 single base substitution G T intron_variant MELA-AU 11 72827952 72827953 multiple base substitution (>=2bp and <=200bp) AA GG intron_variant MELA-AU 11 72828209 72828209 single base substitution A T intron_variant MELA-AU 11 72828544 72828544 single base substitution A G intron_variant MELA-AU 11 72828589 72828589 single base substitution G A intron_variant MELA-AU 11 72829508 72829508 single base substitution C A intron_variant MELA-AU 11 72829587 72829587 single base substitution G A intron_variant MELA-AU 11 72829686 72829686 single base substitution G A intron_variant MELA-AU 11 72829763 72829763 single base substitution A C intron_variant MELA-AU 11 72829901 72829901 single base substitution G A intron_variant MELA-AU 11 72830384 72830384 single base substitution G A intron_variant MELA-AU 11 72830760 72830760 single base substitution G T intron_variant MELA-AU 11 72830844 72830844 single base substitution G A intron_variant MELA-AU 11 72832311 72832311 single base substitution G A intron_variant MELA-AU 11 72832412 72832412 single base substitution G A intron_variant MELA-AU 11 72832484 72832484 single base substitution A G intron_variant MELA-AU 11 72832520 72832520 single base substitution A T intron_variant MELA-AU 11 72832637 72832637 single base substitution G A intron_variant MELA-AU 11 72833769 72833769 single base substitution A C intron_variant MELA-AU 11 72834040 72834040 single base substitution A G intron_variant MELA-AU 11 72834109 72834109 single base substitution G A intron_variant MELA-AU 11 72834543 72834543 single base substitution T A intron_variant MELA-AU 11 72834713 72834713 single base substitution G A intron_variant MELA-AU 11 72835021 72835021 single base substitution G A intron_variant MELA-AU 11 72835127 72835127 single base substitution A T intron_variant MELA-AU 11 72835155 72835155 single base substitution G A intron_variant MELA-AU 11 72835315 72835315 single base substitution G A intron_variant MELA-AU 11 72835355 72835355 single base substitution A C intron_variant MELA-AU 11 72835946 72835946 single base substitution G A intron_variant MELA-AU 11 72836300 72836300 single base substitution C T intron_variant MELA-AU 11 72836797 72836797 single base substitution G A intron_variant MELA-AU 11 72837102 72837102 single base substitution C T intron_variant MELA-AU 11 72837153 72837153 single base substitution G C intron_variant MELA-AU 11 72837320 72837320 single base substitution G A intron_variant MELA-AU 11 72837852 72837852 single base substitution G A intron_variant MELA-AU 11 72838369 72838369 single base substitution C T intron_variant MELA-AU 11 72839546 72839547 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 72839614 72839614 single base substitution G A intron_variant MELA-AU 11 72839624 72839624 single base substitution T C intron_variant MELA-AU 11 72840299 72840299 single base substitution C A intron_variant MELA-AU 11 72840758 72840758 single base substitution A C intron_variant MELA-AU 11 72841829 72841829 single base substitution G A intron_variant MELA-AU 11 72842323 72842323 single base substitution G A intron_variant MELA-AU 11 72844054 72844054 single base substitution G A intron_variant MELA-AU 11 72844189 72844189 single base substitution G A intron_variant MELA-AU 11 72844782 72844782 single base substitution G A intron_variant MELA-AU 11 72845000 72845000 single base substitution A C intron_variant MELA-AU 11 72845288 72845288 single base substitution G A intron_variant MELA-AU 11 72845833 72845833 single base substitution T A intron_variant MELA-AU 11 72845877 72845877 single base substitution G A intron_variant MELA-AU 11 72846250 72846250 single base substitution A G intron_variant MELA-AU 11 72846530 72846530 single base substitution A G intron_variant MELA-AU 11 72846888 72846888 single base substitution G A intron_variant MELA-AU 11 72846913 72846913 single base substitution G A intron_variant MELA-AU 11 72848881 72848881 single base substitution G A intron_variant MELA-AU 11 72849961 72849961 single base substitution G A intron_variant MELA-AU 11 72850000 72850000 single base substitution G A intron_variant MELA-AU 11 72850001 72850001 single base substitution G A intron_variant MELA-AU 11 72851656 72851656 single base substitution G A intron_variant MELA-AU 11 72851656 72851656 single base substitution G A upstream_gene_variant MELA-AU 11 72853770 72853770 single base substitution C T upstream_gene_variant MELA-AU 11 72855183 72855183 single base substitution A T upstream_gene_variant MELA-AU 11 72855615 72855615 single base substitution C T upstream_gene_variant MELA-AU 11 72856515 72856515 single base substitution G A upstream_gene_variant MELA-AU 11 72856587 72856588 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 72856662 72856662 single base substitution T C upstream_gene_variant MELA-AU 11 72856782 72856782 single base substitution C T upstream_gene_variant MELA-AU 11 72857004 72857004 single base substitution A G upstream_gene_variant MELA-AU 11 72857076 72857076 single base substitution C T upstream_gene_variant MELA-AU 11 72857108 72857108 single base substitution C T upstream_gene_variant MELA-AU 11 72857416 72857416 single base substitution A T upstream_gene_variant MELA-AU 11 72857519 72857519 single base substitution C T upstream_gene_variant MELA-AU 11 72858157 72858157 single base substitution G A upstream_gene_variant ORCA-IN 11 72551682 72551682 single base substitution G C downstream_gene_variant ORCA-IN 11 72551682 72551682 single base substitution G C intron_variant ORCA-IN 11 72553839 72553839 single base substitution C T downstream_gene_variant ORCA-IN 11 72553839 72553839 single base substitution C T intron_variant ORCA-IN 11 72553839 72553839 single base substitution C T missense_variant E449K 1345G>A ORCA-IN 11 72553839 72553839 single base substitution C T missense_variant E529K 1585G>A ORCA-IN 11 72553839 72553839 single base substitution C T missense_variant E585K 1753G>A ORCA-IN 11 72553839 72553839 single base substitution C T missense_variant E609K 1825G>A ORCA-IN 11 72601436 72601436 single base substitution T C intron_variant ORCA-IN 11 72601436 72601436 single base substitution T C upstream_gene_variant ORCA-IN 11 72602036 72602036 single base substitution C T intron_variant ORCA-IN 11 72602036 72602036 single base substitution C T upstream_gene_variant ORCA-IN 11 72633957 72633957 single base substitution C T intron_variant ORCA-IN 11 72644187 72644187 single base substitution G T intron_variant ORCA-IN 11 72664072 72664072 single base substitution G C intron_variant ORCA-IN 11 72673656 72673656 insertion of <=200bp - A intron_variant ORCA-IN 11 72753429 72753429 single base substitution T A intron_variant ORCA-IN 11 72786938 72786938 single base substitution C A intron_variant ORCA-IN 11 72818515 72818515 single base substitution G A intron_variant OV-AU 11 72546144 72546144 single base substitution A T downstream_gene_variant OV-AU 11 72548753 72548753 single base substitution A G 3_prime_UTR_variant OV-AU 11 72548753 72548753 single base substitution A G downstream_gene_variant OV-AU 11 72552027 72552027 single base substitution C T downstream_gene_variant OV-AU 11 72552027 72552027 single base substitution C T intron_variant OV-AU 11 72552327 72552327 single base substitution G A downstream_gene_variant OV-AU 11 72552327 72552327 single base substitution G A intron_variant OV-AU 11 72557096 72557096 single base substitution A G intron_variant OV-AU 11 72557096 72557096 single base substitution A G upstream_gene_variant OV-AU 11 72560278 72560278 single base substitution T C intron_variant OV-AU 11 72562417 72562417 single base substitution A G intron_variant OV-AU 11 72566397 72566397 single base substitution T G intron_variant OV-AU 11 72568585 72568585 single base substitution G C intron_variant OV-AU 11 72568903 72568903 single base substitution G T intron_variant OV-AU 11 72570909 72570909 single base substitution A C intron_variant OV-AU 11 72575334 72575334 single base substitution G A intron_variant OV-AU 11 72577839 72577839 single base substitution A T intron_variant OV-AU 11 72580910 72580910 single base substitution C T intron_variant OV-AU 11 72583988 72583988 single base substitution G A intron_variant OV-AU 11 72586414 72586414 single base substitution G C intron_variant OV-AU 11 72590251 72590251 single base substitution A C intron_variant OV-AU 11 72591759 72591759 single base substitution G A intron_variant OV-AU 11 72614420 72614420 single base substitution C A intron_variant OV-AU 11 72614516 72614516 single base substitution G C intron_variant OV-AU 11 72616229 72616229 single base substitution T C intron_variant OV-AU 11 72620699 72620699 single base substitution T G intron_variant OV-AU 11 72622429 72622429 single base substitution G C intron_variant OV-AU 11 72624425 72624425 single base substitution C A intron_variant OV-AU 11 72633901 72633901 single base substitution G C intron_variant OV-AU 11 72638351 72638351 single base substitution T A intron_variant OV-AU 11 72641248 72641248 single base substitution C T intron_variant OV-AU 11 72652504 72652504 single base substitution T C intron_variant OV-AU 11 72655087 72655087 single base substitution C A intron_variant OV-AU 11 72658875 72658875 single base substitution T G intron_variant OV-AU 11 72677974 72677974 single base substitution T G intron_variant OV-AU 11 72684693 72684693 single base substitution A G intron_variant OV-AU 11 72685875 72685875 single base substitution A G intron_variant OV-AU 11 72689060 72689060 single base substitution C A intron_variant OV-AU 11 72689299 72689299 single base substitution A C intron_variant OV-AU 11 72691315 72691315 single base substitution G C downstream_gene_variant OV-AU 11 72691315 72691315 single base substitution G C intron_variant OV-AU 11 72695737 72695737 single base substitution G C downstream_gene_variant OV-AU 11 72695737 72695737 single base substitution G C intron_variant OV-AU 11 72708713 72708713 single base substitution C T intron_variant OV-AU 11 72710421 72710421 single base substitution G A intron_variant OV-AU 11 72710935 72710935 single base substitution C A intron_variant OV-AU 11 72711810 72711810 single base substitution A C intron_variant OV-AU 11 72715583 72715583 single base substitution A G intron_variant OV-AU 11 72727040 72727040 single base substitution T A intron_variant OV-AU 11 72728520 72728520 single base substitution C G intron_variant OV-AU 11 72741952 72741952 single base substitution A G intron_variant OV-AU 11 72748488 72748488 single base substitution C A intron_variant OV-AU 11 72748783 72748783 single base substitution A C intron_variant OV-AU 11 72750180 72750180 single base substitution C A intron_variant OV-AU 11 72750615 72750615 single base substitution G C intron_variant OV-AU 11 72751558 72751558 single base substitution A G intron_variant OV-AU 11 72752189 72752189 single base substitution G C intron_variant OV-AU 11 72752802 72752802 single base substitution T C intron_variant OV-AU 11 72755721 72755721 single base substitution A C intron_variant OV-AU 11 72758253 72758253 single base substitution C A intron_variant OV-AU 11 72761454 72761454 single base substitution G T intron_variant OV-AU 11 72768628 72768628 single base substitution A G intron_variant OV-AU 11 72774256 72774256 single base substitution T C intron_variant OV-AU 11 72780469 72780469 single base substitution A T intron_variant OV-AU 11 72785929 72785929 single base substitution C G intron_variant OV-AU 11 72789129 72789129 single base substitution G C intron_variant OV-AU 11 72800529 72800529 single base substitution A C intron_variant OV-AU 11 72807720 72807720 single base substitution T C intron_variant OV-AU 11 72812705 72812705 single base substitution C A intron_variant OV-AU 11 72820639 72820639 single base substitution T G intron_variant OV-AU 11 72821297 72821297 single base substitution T A intron_variant OV-AU 11 72824551 72824551 single base substitution C A intron_variant OV-AU 11 72824635 72824635 single base substitution G C intron_variant OV-AU 11 72830085 72830085 single base substitution G C intron_variant OV-AU 11 72831092 72831092 single base substitution A G intron_variant OV-AU 11 72831115 72831115 single base substitution C G intron_variant OV-AU 11 72850784 72850784 single base substitution T C intron_variant OV-AU 11 72853069 72853069 single base substitution A C 5_prime_UTR_variant OV-AU 11 72853069 72853069 single base substitution A C upstream_gene_variant OV-AU 11 72853106 72853106 single base substitution G T 5_prime_UTR_variant OV-AU 11 72853106 72853106 single base substitution G T upstream_gene_variant OV-US 11 72554254 72554254 single base substitution C T 5_prime_UTR_variant OV-US 11 72554254 72554254 single base substitution C T downstream_gene_variant OV-US 11 72554254 72554254 single base substitution C T synonymous_variant T413T 1239G>A OV-US 11 72554254 72554254 single base substitution C T synonymous_variant T493T 1479G>A OV-US 11 72554254 72554254 single base substitution C T synonymous_variant T549T 1647G>A OV-US 11 72554254 72554254 single base substitution C T synonymous_variant T573T 1719G>A PACA-AU 11 72543943 72543943 single base substitution C T downstream_gene_variant PACA-AU 11 72544376 72544376 single base substitution A G downstream_gene_variant PACA-AU 11 72549568 72549568 single base substitution C T 3_prime_UTR_variant PACA-AU 11 72549568 72549568 single base substitution C T downstream_gene_variant PACA-AU 11 72556788 72556788 single base substitution C A intron_variant PACA-AU 11 72556788 72556788 single base substitution C A upstream_gene_variant PACA-AU 11 72556854 72556854 single base substitution C T intron_variant PACA-AU 11 72556854 72556854 single base substitution C T upstream_gene_variant PACA-AU 11 72563105 72563105 single base substitution T G intron_variant PACA-AU 11 72564492 72564492 single base substitution C A intron_variant PACA-AU 11 72565578 72565578 single base substitution G A intron_variant PACA-AU 11 72565596 72565596 deletion of <=200bp C - intron_variant PACA-AU 11 72566325 72566328 deletion of <=200bp AAAC - intron_variant PACA-AU 11 72566780 72566780 single base substitution T C intron_variant PACA-AU 11 72569750 72569750 deletion of <=200bp C - intron_variant PACA-AU 11 72577316 72577316 single base substitution G T intron_variant PACA-AU 11 72579055 72579055 single base substitution G A exon_variant PACA-AU 11 72579055 72579055 single base substitution G A missense_variant A252V 755C>T PACA-AU 11 72579055 72579055 single base substitution G A missense_variant A332V 995C>T PACA-AU 11 72579055 72579055 single base substitution G A missense_variant A388V 1163C>T PACA-AU 11 72579055 72579055 single base substitution G A missense_variant A412V 1235C>T PACA-AU 11 72582352 72582352 single base substitution C T intron_variant PACA-AU 11 72584733 72584733 single base substitution T G intron_variant PACA-AU 11 72596058 72596058 single base substitution T G intron_variant PACA-AU 11 72597633 72597633 single base substitution G T intron_variant PACA-AU 11 72598363 72598363 single base substitution A G intron_variant PACA-AU 11 72600073 72600073 single base substitution C T intron_variant PACA-AU 11 72600073 72600073 single base substitution C T upstream_gene_variant PACA-AU 11 72608766 72608766 single base substitution C T intron_variant PACA-AU 11 72611331 72611331 single base substitution C G intron_variant PACA-AU 11 72611331 72611331 single base substitution C G missense_variant V163L 487G>C PACA-AU 11 72611331 72611331 single base substitution C G missense_variant V323L 967G>C PACA-AU 11 72616562 72616562 single base substitution C T intron_variant PACA-AU 11 72618981 72618981 single base substitution G T intron_variant PACA-AU 11 72618989 72618989 single base substitution A G intron_variant PACA-AU 11 72621078 72621078 single base substitution A C intron_variant PACA-AU 11 72625749 72625749 single base substitution C G intron_variant PACA-AU 11 72626594 72626594 single base substitution G A intron_variant PACA-AU 11 72637970 72637970 deletion of <=200bp A - intron_variant PACA-AU 11 72647651 72647651 single base substitution C T intron_variant PACA-AU 11 72648828 72648828 single base substitution C T intron_variant PACA-AU 11 72654331 72654331 single base substitution C T intron_variant PACA-AU 11 72658472 72658472 single base substitution C G intron_variant PACA-AU 11 72665924 72665924 single base substitution C T intron_variant PACA-AU 11 72668762 72668762 single base substitution T C intron_variant PACA-AU 11 72669202 72669202 single base substitution G A intron_variant PACA-AU 11 72673642 72673642 insertion of <=200bp - C intron_variant PACA-AU 11 72676350 72676350 single base substitution G A intron_variant PACA-AU 11 72683169 72683169 single base substitution C T intron_variant PACA-AU 11 72684432 72684432 single base substitution G T intron_variant PACA-AU 11 72689355 72689355 deletion of <=200bp A - intron_variant PACA-AU 11 72695054 72695054 single base substitution C G downstream_gene_variant PACA-AU 11 72695054 72695054 single base substitution C G intron_variant PACA-AU 11 72696979 72696979 single base substitution G A downstream_gene_variant PACA-AU 11 72696979 72696979 single base substitution G A intron_variant PACA-AU 11 72700717 72700717 single base substitution G A intron_variant PACA-AU 11 72700717 72700717 single base substitution G A upstream_gene_variant PACA-AU 11 72707129 72707129 single base substitution G A intron_variant PACA-AU 11 72708217 72708217 insertion of <=200bp - AAA intron_variant PACA-AU 11 72709480 72709480 single base substitution A C intron_variant PACA-AU 11 72709825 72709825 single base substitution C G intron_variant PACA-AU 11 72720044 72720044 single base substitution A T intron_variant PACA-AU 11 72731785 72731785 single base substitution C T intron_variant PACA-AU 11 72734374 72734374 single base substitution A G intron_variant PACA-AU 11 72748364 72748364 single base substitution T C intron_variant PACA-AU 11 72748365 72748365 single base substitution T A intron_variant PACA-AU 11 72748367 72748367 single base substitution T A intron_variant PACA-AU 11 72749104 72749104 single base substitution C T intron_variant PACA-AU 11 72759244 72759244 single base substitution A C intron_variant PACA-AU 11 72785646 72785646 single base substitution A C intron_variant PACA-AU 11 72787938 72787938 single base substitution G A intron_variant PACA-AU 11 72796275 72796275 single base substitution T A intron_variant PACA-AU 11 72803371 72803371 single base substitution G C intron_variant PACA-AU 11 72809275 72809275 single base substitution G A intron_variant PACA-AU 11 72811718 72811718 single base substitution T G intron_variant PACA-AU 11 72833664 72833664 single base substitution G C intron_variant PACA-AU 11 72844220 72844220 single base substitution A G intron_variant PACA-AU 11 72850442 72850442 single base substitution T C intron_variant PACA-AU 11 72853594 72853594 single base substitution A G upstream_gene_variant PACA-AU 11 72857307 72857307 single base substitution A G upstream_gene_variant PACA-CA 11 72547797 72547797 insertion of <=200bp - T 3_prime_UTR_variant PACA-CA 11 72547797 72547797 insertion of <=200bp - T downstream_gene_variant PACA-CA 11 72557434 72557434 single base substitution T G intron_variant PACA-CA 11 72557434 72557434 single base substitution T G upstream_gene_variant PACA-CA 11 72558791 72558791 single base substitution G A intron_variant PACA-CA 11 72558791 72558791 single base substitution G A upstream_gene_variant PACA-CA 11 72562736 72562736 single base substitution C T intron_variant PACA-CA 11 72566558 72566558 single base substitution G A intron_variant PACA-CA 11 72577313 72577316 deletion of <=200bp TTTG - intron_variant PACA-CA 11 72579735 72579735 insertion of <=200bp - AAAC intron_variant PACA-CA 11 72581150 72581150 single base substitution C G intron_variant PACA-CA 11 72581197 72581197 single base substitution C T intron_variant PACA-CA 11 72581775 72581775 single base substitution C G intron_variant PACA-CA 11 72584459 72584459 single base substitution T C intron_variant PACA-CA 11 72586817 72586817 single base substitution C T intron_variant PACA-CA 11 72591990 72591990 single base substitution G T intron_variant PACA-CA 11 72601236 72601236 single base substitution C G intron_variant PACA-CA 11 72601236 72601236 single base substitution C G upstream_gene_variant PACA-CA 11 72602708 72602708 single base substitution G A intron_variant PACA-CA 11 72602708 72602708 single base substitution G A upstream_gene_variant PACA-CA 11 72611744 72611744 single base substitution A T intron_variant PACA-CA 11 72612449 72612449 insertion of <=200bp - T intron_variant PACA-CA 11 72615235 72615235 single base substitution A C intron_variant PACA-CA 11 72615927 72615927 single base substitution T C intron_variant PACA-CA 11 72616599 72616599 single base substitution C T intron_variant PACA-CA 11 72617318 72617318 single base substitution G A intron_variant PACA-CA 11 72621111 72621111 single base substitution G A intron_variant PACA-CA 11 72621516 72621516 single base substitution C G intron_variant PACA-CA 11 72623444 72623444 single base substitution G T intron_variant PACA-CA 11 72629693 72629693 insertion of <=200bp - T intron_variant PACA-CA 11 72634724 72634724 single base substitution C T intron_variant PACA-CA 11 72637731 72637731 single base substitution T C intron_variant PACA-CA 11 72638148 72638148 single base substitution C T intron_variant PACA-CA 11 72638567 72638567 single base substitution A G intron_variant PACA-CA 11 72639003 72639003 single base substitution T C intron_variant PACA-CA 11 72642233 72642233 single base substitution G A intron_variant PACA-CA 11 72643923 72643923 single base substitution C T intron_variant PACA-CA 11 72651012 72651012 single base substitution G T intron_variant PACA-CA 11 72651252 72651252 single base substitution T C intron_variant PACA-CA 11 72652717 72652717 single base substitution T C intron_variant PACA-CA 11 72653464 72653464 single base substitution T C intron_variant PACA-CA 11 72653473 72653473 single base substitution T C intron_variant PACA-CA 11 72655613 72655613 single base substitution G A intron_variant PACA-CA 11 72656010 72656010 single base substitution G C intron_variant PACA-CA 11 72656289 72656289 single base substitution G A intron_variant PACA-CA 11 72659524 72659524 single base substitution T C intron_variant PACA-CA 11 72660597 72660597 single base substitution G T intron_variant PACA-CA 11 72660668 72660668 single base substitution C T intron_variant PACA-CA 11 72663871 72663871 single base substitution T C intron_variant PACA-CA 11 72665562 72665562 single base substitution C A intron_variant PACA-CA 11 72668055 72668055 single base substitution G A intron_variant PACA-CA 11 72669086 72669086 single base substitution C G intron_variant PACA-CA 11 72669317 72669317 single base substitution C T intron_variant PACA-CA 11 72672453 72672453 single base substitution G T intron_variant PACA-CA 11 72673005 72673005 single base substitution G A intron_variant PACA-CA 11 72673006 72673006 single base substitution C T intron_variant PACA-CA 11 72674834 72674834 single base substitution G A intron_variant PACA-CA 11 72675962 72675962 single base substitution G A intron_variant PACA-CA 11 72682217 72682217 single base substitution A G intron_variant PACA-CA 11 72682461 72682461 single base substitution G C intron_variant PACA-CA 11 72686058 72686058 single base substitution A G intron_variant PACA-CA 11 72686551 72686551 single base substitution G T intron_variant PACA-CA 11 72687047 72687047 single base substitution G A intron_variant PACA-CA 11 72688461 72688461 single base substitution A C intron_variant PACA-CA 11 72692805 72692805 single base substitution A G downstream_gene_variant PACA-CA 11 72692805 72692805 single base substitution A G intron_variant PACA-CA 11 72696946 72696946 single base substitution A T downstream_gene_variant PACA-CA 11 72696946 72696946 single base substitution A T intron_variant PACA-CA 11 72697291 72697291 single base substitution G T downstream_gene_variant PACA-CA 11 72697291 72697291 single base substitution G T intron_variant PACA-CA 11 72703342 72703342 single base substitution T G intron_variant PACA-CA 11 72703342 72703342 single base substitution T G upstream_gene_variant PACA-CA 11 72706381 72706381 single base substitution A C intron_variant PACA-CA 11 72707976 72707976 single base substitution T C intron_variant PACA-CA 11 72708039 72708039 single base substitution T C intron_variant PACA-CA 11 72709131 72709131 single base substitution G A intron_variant PACA-CA 11 72723112 72723112 single base substitution C G intron_variant PACA-CA 11 72727049 72727049 insertion of <=200bp - A intron_variant PACA-CA 11 72727221 72727221 single base substitution G A intron_variant PACA-CA 11 72727375 72727382 deletion of <=200bp AACCAACC - intron_variant PACA-CA 11 72728324 72728324 single base substitution A G intron_variant PACA-CA 11 72737503 72737503 single base substitution T C intron_variant PACA-CA 11 72739338 72739338 single base substitution C T intron_variant PACA-CA 11 72739976 72739976 single base substitution G C intron_variant PACA-CA 11 72740455 72740455 single base substitution T C intron_variant PACA-CA 11 72742873 72742873 single base substitution C T intron_variant PACA-CA 11 72743435 72743435 single base substitution A T intron_variant PACA-CA 11 72746498 72746498 single base substitution G A intron_variant PACA-CA 11 72750605 72750605 single base substitution A G intron_variant PACA-CA 11 72752556 72752556 single base substitution T C intron_variant PACA-CA 11 72753373 72753373 single base substitution A G intron_variant PACA-CA 11 72757909 72757909 single base substitution T C intron_variant PACA-CA 11 72758162 72758162 single base substitution C T intron_variant PACA-CA 11 72758907 72758907 single base substitution T G intron_variant PACA-CA 11 72763591 72763599 deletion of <=200bp ACTACTGTT - intron_variant PACA-CA 11 72764800 72764800 single base substitution A C intron_variant PACA-CA 11 72766502 72766502 single base substitution G A intron_variant PACA-CA 11 72767106 72767106 deletion of <=200bp A - intron_variant PACA-CA 11 72767854 72767854 single base substitution G A intron_variant PACA-CA 11 72772391 72772391 single base substitution A T intron_variant PACA-CA 11 72773061 72773061 single base substitution A G intron_variant PACA-CA 11 72773593 72773593 single base substitution G A intron_variant PACA-CA 11 72774765 72774765 single base substitution A C intron_variant PACA-CA 11 72775275 72775275 single base substitution G A intron_variant PACA-CA 11 72775560 72775562 deletion of <=200bp AGA - intron_variant PACA-CA 11 72776679 72776679 single base substitution A C intron_variant PACA-CA 11 72777487 72777487 single base substitution A G intron_variant PACA-CA 11 72781310 72781310 single base substitution A G intron_variant PACA-CA 11 72789499 72789499 single base substitution T G intron_variant PACA-CA 11 72789775 72789775 deletion of <=200bp T - intron_variant PACA-CA 11 72794550 72794550 single base substitution C T intron_variant PACA-CA 11 72796287 72796287 insertion of <=200bp - A intron_variant PACA-CA 11 72800166 72800166 single base substitution G T intron_variant PACA-CA 11 72806498 72806498 single base substitution A G intron_variant PACA-CA 11 72807091 72807091 single base substitution A C intron_variant PACA-CA 11 72811264 72811264 single base substitution G C intron_variant PACA-CA 11 72817901 72817901 single base substitution G A intron_variant PACA-CA 11 72819862 72819862 single base substitution C T intron_variant PACA-CA 11 72823610 72823610 single base substitution C T intron_variant PACA-CA 11 72830072 72830072 single base substitution C T intron_variant PACA-CA 11 72832221 72832221 single base substitution C T intron_variant PACA-CA 11 72834540 72834540 single base substitution G T intron_variant PACA-CA 11 72834583 72834583 single base substitution C A intron_variant PACA-CA 11 72838939 72838939 single base substitution G C intron_variant PACA-CA 11 72842766 72842766 single base substitution A T intron_variant PACA-CA 11 72851062 72851063 deletion of <=200bp TA - intron_variant PACA-CA 11 72853626 72853626 single base substitution A T upstream_gene_variant PAEN-AU 11 72557096 72557096 single base substitution A G intron_variant PAEN-AU 11 72557096 72557096 single base substitution A G upstream_gene_variant PAEN-AU 11 72569984 72569984 single base substitution T C intron_variant PAEN-AU 11 72572589 72572589 single base substitution T C intron_variant PAEN-AU 11 72601363 72601363 single base substitution A C intron_variant PAEN-AU 11 72601363 72601363 single base substitution A C upstream_gene_variant PAEN-AU 11 72643841 72643841 single base substitution C A intron_variant PAEN-AU 11 72646681 72646681 single base substitution G T intron_variant PAEN-AU 11 72662605 72662605 single base substitution C A intron_variant PAEN-AU 11 72670377 72670377 single base substitution C A intron_variant PAEN-AU 11 72701960 72701960 single base substitution T G intron_variant PAEN-AU 11 72701960 72701960 single base substitution T G upstream_gene_variant PAEN-AU 11 72715655 72715655 single base substitution C G intron_variant PAEN-AU 11 72751019 72751019 single base substitution C A intron_variant PAEN-AU 11 72780535 72780535 single base substitution C G intron_variant PAEN-AU 11 72793961 72793961 single base substitution T C intron_variant PAEN-AU 11 72842594 72842594 single base substitution C T intron_variant PAEN-AU 11 72848756 72848756 single base substitution G A intron_variant PAEN-IT 11 72639262 72639262 single base substitution G T intron_variant PAEN-IT 11 72646955 72646955 single base substitution C G intron_variant PAEN-IT 11 72660329 72660329 single base substitution T C intron_variant PBCA-DE 11 72550581 72550581 single base substitution G A downstream_gene_variant PBCA-DE 11 72550581 72550581 single base substitution G A intron_variant PBCA-DE 11 72551640 72551643 deletion of <=200bp TTAA - downstream_gene_variant PBCA-DE 11 72551640 72551643 deletion of <=200bp TTAA - intron_variant PBCA-DE 11 72561013 72561013 single base substitution G T intron_variant PBCA-DE 11 72577224 72577224 single base substitution G A intron_variant PBCA-DE 11 72585139 72585139 insertion of <=200bp - A intron_variant PBCA-DE 11 72588629 72588629 single base substitution A T intron_variant PBCA-DE 11 72606621 72606621 single base substitution G A intron_variant PBCA-DE 11 72612735 72612735 insertion of <=200bp - A intron_variant PBCA-DE 11 72620823 72620823 single base substitution C G intron_variant PBCA-DE 11 72631999 72631999 single base substitution C G intron_variant PBCA-DE 11 72691794 72691794 single base substitution T C downstream_gene_variant PBCA-DE 11 72691794 72691794 single base substitution T C intron_variant PBCA-DE 11 72697974 72697974 single base substitution C T downstream_gene_variant PBCA-DE 11 72697974 72697974 single base substitution C T intron_variant PBCA-DE 11 72741154 72741154 single base substitution T G intron_variant PBCA-DE 11 72746632 72746632 single base substitution C G intron_variant PBCA-DE 11 72750999 72750999 single base substitution C T intron_variant PBCA-DE 11 72759450 72759450 single base substitution G T intron_variant PBCA-DE 11 72765751 72765751 deletion of <=200bp G - intron_variant PBCA-DE 11 72773783 72773783 insertion of <=200bp - A intron_variant PBCA-DE 11 72780463 72780463 deletion of <=200bp A - intron_variant PBCA-DE 11 72786842 72786842 deletion of <=200bp A - intron_variant PBCA-DE 11 72792246 72792246 single base substitution C T intron_variant PBCA-DE 11 72793522 72793522 single base substitution C T intron_variant PBCA-DE 11 72801077 72801077 insertion of <=200bp - A intron_variant PBCA-DE 11 72809650 72809650 insertion of <=200bp - A intron_variant PBCA-DE 11 72817066 72817066 single base substitution T A intron_variant PBCA-DE 11 72822100 72822100 insertion of <=200bp - T intron_variant PBCA-DE 11 72823147 72823147 single base substitution A C intron_variant PBCA-DE 11 72828875 72828875 deletion of <=200bp G - intron_variant PBCA-DE 11 72829486 72829486 single base substitution C T intron_variant PBCA-DE 11 72832220 72832221 deletion of <=200bp AC - intron_variant PBCA-DE 11 72837789 72837789 single base substitution A C intron_variant PBCA-DE 11 72839743 72839743 single base substitution C T intron_variant PBCA-DE 11 72845733 72845733 single base substitution G T intron_variant PBCA-DE 11 72850462 72850462 single base substitution C A intron_variant PRAD-CA 11 72551589 72551589 single base substitution G A downstream_gene_variant PRAD-CA 11 72551589 72551589 single base substitution G A intron_variant PRAD-CA 11 72557415 72557415 single base substitution C T intron_variant PRAD-CA 11 72557415 72557415 single base substitution C T upstream_gene_variant PRAD-CA 11 72592642 72592642 single base substitution T A intron_variant PRAD-CA 11 72621423 72621423 single base substitution C T intron_variant PRAD-CA 11 72621431 72621431 single base substitution A G intron_variant PRAD-CA 11 72624880 72624880 single base substitution C A intron_variant PRAD-CA 11 72644949 72644949 single base substitution T C intron_variant PRAD-CA 11 72651070 72651070 single base substitution G T intron_variant PRAD-CA 11 72652012 72652012 single base substitution A C intron_variant PRAD-CA 11 72674604 72674604 single base substitution G C intron_variant PRAD-CA 11 72691480 72691480 single base substitution A C downstream_gene_variant PRAD-CA 11 72691480 72691480 single base substitution A C intron_variant PRAD-CA 11 72691720 72691720 single base substitution G A downstream_gene_variant PRAD-CA 11 72691720 72691720 single base substitution G A intron_variant PRAD-CA 11 72696783 72696783 single base substitution T A downstream_gene_variant PRAD-CA 11 72696783 72696783 single base substitution T A intron_variant PRAD-CA 11 72751679 72751679 single base substitution C T intron_variant PRAD-CA 11 72772181 72772181 single base substitution G A intron_variant PRAD-CA 11 72812607 72812607 single base substitution C A intron_variant PRAD-CA 11 72814572 72814572 single base substitution T C intron_variant PRAD-CA 11 72825472 72825472 single base substitution A C intron_variant PRAD-UK 11 72547798 72547798 insertion of <=200bp - T 3_prime_UTR_variant PRAD-UK 11 72547798 72547798 insertion of <=200bp - T downstream_gene_variant PRAD-UK 11 72547806 72547806 insertion of <=200bp - T 3_prime_UTR_variant PRAD-UK 11 72547806 72547806 insertion of <=200bp - T downstream_gene_variant PRAD-UK 11 72548078 72548078 single base substitution C A 3_prime_UTR_variant PRAD-UK 11 72548078 72548078 single base substitution C A downstream_gene_variant PRAD-UK 11 72576443 72576443 single base substitution G T intron_variant PRAD-UK 11 72592953 72592953 single base substitution G A intron_variant PRAD-UK 11 72598582 72598582 single base substitution G C exon_variant PRAD-UK 11 72598582 72598582 single base substitution G C stop_gained S224* 671C>G PRAD-UK 11 72598582 72598582 single base substitution G C stop_gained S304* 911C>G PRAD-UK 11 72598582 72598582 single base substitution G C stop_gained S360* 1079C>G PRAD-UK 11 72598582 72598582 single base substitution G C stop_gained S384* 1151C>G PRAD-UK 11 72606698 72606698 single base substitution G A intron_variant PRAD-UK 11 72618078 72618078 single base substitution G A intron_variant PRAD-UK 11 72626594 72626594 single base substitution G A intron_variant PRAD-UK 11 72626700 72626700 single base substitution C A intron_variant PRAD-UK 11 72636737 72636737 single base substitution G A intron_variant PRAD-UK 11 72636833 72636833 single base substitution G T intron_variant PRAD-UK 11 72640755 72640755 single base substitution C T intron_variant PRAD-UK 11 72641156 72641156 single base substitution A C intron_variant PRAD-UK 11 72645633 72645633 single base substitution C A intron_variant PRAD-UK 11 72651538 72651538 single base substitution C T intron_variant PRAD-UK 11 72655742 72655742 single base substitution C T intron_variant PRAD-UK 11 72658868 72658868 deletion of <=200bp G - intron_variant PRAD-UK 11 72698840 72698840 single base substitution T C downstream_gene_variant PRAD-UK 11 72698840 72698840 single base substitution T C intron_variant PRAD-UK 11 72702209 72702209 single base substitution A C intron_variant PRAD-UK 11 72702209 72702209 single base substitution A C upstream_gene_variant PRAD-UK 11 72720348 72720348 single base substitution C T intron_variant PRAD-UK 11 72728562 72728562 single base substitution G C intron_variant PRAD-UK 11 72731450 72731450 single base substitution T C intron_variant PRAD-UK 11 72737439 72737439 single base substitution T G intron_variant PRAD-UK 11 72743286 72743286 single base substitution T C intron_variant PRAD-UK 11 72783176 72783176 single base substitution C A intron_variant PRAD-UK 11 72810235 72810235 single base substitution C T intron_variant PRAD-UK 11 72813292 72813292 single base substitution C G intron_variant PRAD-UK 11 72818081 72818082 deletion of <=200bp TA - intron_variant PRAD-UK 11 72836423 72836435 deletion of <=200bp TATTAACTCTAAG - intron_variant PRAD-UK 11 72840208 72840208 single base substitution G A intron_variant PRAD-UK 11 72844465 72844465 single base substitution G A intron_variant PRAD-UK 11 72853113 72853113 single base substitution A T 5_prime_UTR_variant PRAD-UK 11 72853113 72853113 single base substitution A T upstream_gene_variant RECA-EU 11 72550308 72550308 single base substitution G C downstream_gene_variant RECA-EU 11 72550308 72550308 single base substitution G C intron_variant RECA-EU 11 72554093 72554093 single base substitution C T 3_prime_UTR_variant RECA-EU 11 72554093 72554093 single base substitution C T downstream_gene_variant RECA-EU 11 72554093 72554093 single base substitution C T intron_variant RECA-EU 11 72573311 72573311 single base substitution A C intron_variant RECA-EU 11 72575915 72575915 single base substitution G T intron_variant RECA-EU 11 72579689 72579689 single base substitution T A intron_variant RECA-EU 11 72582638 72582638 single base substitution G T intron_variant RECA-EU 11 72583864 72583864 single base substitution T C intron_variant RECA-EU 11 72587160 72587160 single base substitution T A intron_variant RECA-EU 11 72587404 72587404 single base substitution G A intron_variant RECA-EU 11 72596664 72596664 single base substitution G A intron_variant RECA-EU 11 72608498 72608498 single base substitution T C intron_variant RECA-EU 11 72631109 72631109 single base substitution A C intron_variant RECA-EU 11 72638364 72638364 single base substitution T A intron_variant RECA-EU 11 72649488 72649488 single base substitution A T intron_variant RECA-EU 11 72653897 72653897 single base substitution G C intron_variant RECA-EU 11 72663699 72663699 single base substitution T A intron_variant RECA-EU 11 72663790 72663790 single base substitution T A intron_variant RECA-EU 11 72675269 72675269 single base substitution C T intron_variant RECA-EU 11 72683026 72683026 single base substitution T C intron_variant RECA-EU 11 72690402 72690402 single base substitution A T downstream_gene_variant RECA-EU 11 72690402 72690402 single base substitution A T intron_variant RECA-EU 11 72701218 72701218 single base substitution A C intron_variant RECA-EU 11 72701218 72701218 single base substitution A C upstream_gene_variant RECA-EU 11 72707909 72707909 single base substitution A C intron_variant RECA-EU 11 72708735 72708735 single base substitution A C intron_variant RECA-EU 11 72720567 72720567 single base substitution T A intron_variant RECA-EU 11 72723335 72723335 single base substitution T G intron_variant RECA-EU 11 72724334 72724334 single base substitution G A intron_variant RECA-EU 11 72725240 72725240 single base substitution A T intron_variant RECA-EU 11 72738354 72738354 single base substitution C T intron_variant RECA-EU 11 72741545 72741545 single base substitution C T intron_variant RECA-EU 11 72743942 72743942 single base substitution C A intron_variant RECA-EU 11 72748899 72748899 single base substitution T C intron_variant RECA-EU 11 72762005 72762005 single base substitution T A intron_variant RECA-EU 11 72762006 72762006 single base substitution A T intron_variant RECA-EU 11 72765162 72765162 single base substitution C T intron_variant RECA-EU 11 72767960 72767960 single base substitution T C intron_variant RECA-EU 11 72788738 72788738 single base substitution G T intron_variant RECA-EU 11 72791818 72791818 single base substitution A G intron_variant RECA-EU 11 72821177 72821177 single base substitution C T intron_variant RECA-EU 11 72833988 72833988 single base substitution T A intron_variant RECA-EU 11 72854255 72854255 single base substitution G A upstream_gene_variant SKCA-BR 11 72547034 72547034 single base substitution C T downstream_gene_variant SKCA-BR 11 72548858 72548858 single base substitution A C 3_prime_UTR_variant SKCA-BR 11 72548858 72548858 single base substitution A C downstream_gene_variant SKCA-BR 11 72551216 72551216 single base substitution A C downstream_gene_variant SKCA-BR 11 72551216 72551216 single base substitution A C intron_variant SKCA-BR 11 72553494 72553494 single base substitution G A downstream_gene_variant SKCA-BR 11 72553494 72553494 single base substitution G A intron_variant SKCA-BR 11 72556502 72556507 deletion of <=200bp AAAAAC - intron_variant SKCA-BR 11 72556502 72556507 deletion of <=200bp AAAAAC - upstream_gene_variant SKCA-BR 11 72556505 72556507 deletion of <=200bp AAC - intron_variant SKCA-BR 11 72556505 72556507 deletion of <=200bp AAC - upstream_gene_variant SKCA-BR 11 72557138 72557139 deletion of <=200bp TA - intron_variant SKCA-BR 11 72557138 72557139 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 11 72558180 72558180 single base substitution G A intron_variant SKCA-BR 11 72558180 72558180 single base substitution G A upstream_gene_variant SKCA-BR 11 72559005 72559005 single base substitution G A intron_variant SKCA-BR 11 72559005 72559005 single base substitution G A upstream_gene_variant SKCA-BR 11 72564318 72564318 single base substitution G A intron_variant SKCA-BR 11 72574209 72574209 single base substitution G A intron_variant SKCA-BR 11 72576083 72576083 single base substitution C T intron_variant SKCA-BR 11 72579509 72579509 single base substitution G A intron_variant SKCA-BR 11 72579667 72579667 single base substitution G A intron_variant SKCA-BR 11 72579887 72579887 single base substitution T G intron_variant SKCA-BR 11 72581944 72581944 insertion of <=200bp - CAA intron_variant SKCA-BR 11 72590708 72590708 single base substitution G A intron_variant SKCA-BR 11 72592861 72592861 single base substitution G A intron_variant SKCA-BR 11 72598827 72598827 single base substitution A C intron_variant SKCA-BR 11 72598827 72598827 single base substitution A C upstream_gene_variant SKCA-BR 11 72602881 72602881 single base substitution G A intron_variant SKCA-BR 11 72602881 72602881 single base substitution G A upstream_gene_variant SKCA-BR 11 72603564 72603564 single base substitution G A intron_variant SKCA-BR 11 72603564 72603564 single base substitution G A upstream_gene_variant SKCA-BR 11 72606232 72606232 single base substitution G A intron_variant SKCA-BR 11 72606512 72606512 single base substitution G A intron_variant SKCA-BR 11 72609034 72609034 single base substitution C T intron_variant SKCA-BR 11 72614240 72614252 deletion of <=200bp TTATTTATTTATA - intron_variant SKCA-BR 11 72614332 72614332 single base substitution G A intron_variant SKCA-BR 11 72617437 72617437 single base substitution G A intron_variant SKCA-BR 11 72618644 72618644 insertion of <=200bp - GT intron_variant SKCA-BR 11 72619897 72619897 single base substitution C T intron_variant SKCA-BR 11 72624177 72624177 single base substitution G A intron_variant SKCA-BR 11 72624305 72624305 single base substitution G A intron_variant SKCA-BR 11 72626004 72626004 single base substitution G A intron_variant SKCA-BR 11 72626532 72626532 single base substitution G A intron_variant SKCA-BR 11 72627103 72627103 single base substitution G A intron_variant SKCA-BR 11 72628013 72628030 deletion of <=200bp CTTTTTTTTTTTTTTTTT - intron_variant SKCA-BR 11 72628706 72628706 single base substitution G A intron_variant SKCA-BR 11 72628707 72628707 single base substitution G A intron_variant SKCA-BR 11 72631387 72631387 single base substitution G A intron_variant SKCA-BR 11 72637505 72637505 single base substitution C T intron_variant SKCA-BR 11 72638038 72638038 single base substitution G A intron_variant SKCA-BR 11 72638976 72638976 single base substitution G A intron_variant SKCA-BR 11 72640117 72640117 single base substitution A G intron_variant SKCA-BR 11 72643808 72643808 single base substitution G A intron_variant SKCA-BR 11 72649231 72649231 single base substitution T G intron_variant SKCA-BR 11 72651114 72651114 single base substitution T A intron_variant SKCA-BR 11 72662354 72662354 single base substitution T G intron_variant SKCA-BR 11 72667693 72667693 single base substitution C T intron_variant SKCA-BR 11 72668952 72668952 single base substitution C A intron_variant SKCA-BR 11 72670898 72670898 insertion of <=200bp - GGT intron_variant SKCA-BR 11 72672671 72672671 single base substitution G C intron_variant SKCA-BR 11 72682085 72682085 single base substitution A T intron_variant SKCA-BR 11 72683146 72683146 single base substitution C T intron_variant SKCA-BR 11 72687961 72687961 single base substitution C A intron_variant SKCA-BR 11 72688690 72688690 single base substitution G C intron_variant SKCA-BR 11 72689011 72689011 single base substitution G A intron_variant SKCA-BR 11 72693699 72693699 single base substitution G A downstream_gene_variant SKCA-BR 11 72693699 72693699 single base substitution G A intron_variant SKCA-BR 11 72694122 72694122 single base substitution G A downstream_gene_variant SKCA-BR 11 72694122 72694122 single base substitution G A intron_variant SKCA-BR 11 72694350 72694350 single base substitution A T downstream_gene_variant SKCA-BR 11 72694350 72694350 single base substitution A T intron_variant SKCA-BR 11 72694355 72694355 single base substitution A T downstream_gene_variant SKCA-BR 11 72694355 72694355 single base substitution A T intron_variant SKCA-BR 11 72696318 72696318 single base substitution C T downstream_gene_variant SKCA-BR 11 72696318 72696318 single base substitution C T intron_variant SKCA-BR 11 72699657 72699657 single base substitution C A downstream_gene_variant SKCA-BR 11 72699657 72699657 single base substitution C A intron_variant SKCA-BR 11 72702337 72702337 single base substitution A G intron_variant SKCA-BR 11 72702337 72702337 single base substitution A G upstream_gene_variant SKCA-BR 11 72702579 72702579 single base substitution C T intron_variant SKCA-BR 11 72702579 72702579 single base substitution C T upstream_gene_variant SKCA-BR 11 72702975 72702975 single base substitution G A intron_variant SKCA-BR 11 72702975 72702975 single base substitution G A upstream_gene_variant SKCA-BR 11 72703307 72703307 single base substitution A C intron_variant SKCA-BR 11 72703307 72703307 single base substitution A C upstream_gene_variant SKCA-BR 11 72706372 72706372 single base substitution G A intron_variant SKCA-BR 11 72709409 72709409 single base substitution A C intron_variant SKCA-BR 11 72711176 72711176 single base substitution G A intron_variant SKCA-BR 11 72713448 72713448 single base substitution T C intron_variant SKCA-BR 11 72716947 72716948 deletion of <=200bp CT - intron_variant SKCA-BR 11 72717912 72717912 single base substitution G A intron_variant SKCA-BR 11 72718831 72718831 single base substitution G A intron_variant SKCA-BR 11 72721654 72721654 single base substitution G A intron_variant SKCA-BR 11 72722102 72722102 single base substitution T G intron_variant SKCA-BR 11 72722127 72722127 single base substitution T C intron_variant SKCA-BR 11 72722794 72722794 single base substitution G A intron_variant SKCA-BR 11 72727906 72727906 single base substitution T C intron_variant SKCA-BR 11 72731340 72731340 single base substitution C T intron_variant SKCA-BR 11 72731341 72731341 single base substitution T C intron_variant SKCA-BR 11 72736036 72736036 single base substitution A C intron_variant SKCA-BR 11 72739784 72739784 single base substitution G A intron_variant SKCA-BR 11 72742916 72742916 single base substitution G A intron_variant SKCA-BR 11 72746250 72746250 single base substitution C T intron_variant SKCA-BR 11 72746739 72746739 insertion of <=200bp - GTATT intron_variant SKCA-BR 11 72746739 72746743 deletion of <=200bp GTTTT - intron_variant SKCA-BR 11 72746746 72746746 single base substitution T A intron_variant SKCA-BR 11 72749392 72749392 insertion of <=200bp - GA intron_variant SKCA-BR 11 72750574 72750574 single base substitution G A intron_variant SKCA-BR 11 72756775 72756775 single base substitution G A intron_variant SKCA-BR 11 72756970 72756970 single base substitution G A intron_variant SKCA-BR 11 72761578 72761578 single base substitution G A intron_variant SKCA-BR 11 72763731 72763731 single base substitution G A intron_variant SKCA-BR 11 72765652 72765652 single base substitution G A intron_variant SKCA-BR 11 72766274 72766274 single base substitution G A intron_variant SKCA-BR 11 72768330 72768330 single base substitution G A intron_variant SKCA-BR 11 72768655 72768655 single base substitution G A intron_variant SKCA-BR 11 72770227 72770227 single base substitution G A intron_variant SKCA-BR 11 72773284 72773284 single base substitution A C intron_variant SKCA-BR 11 72775202 72775202 single base substitution G A intron_variant SKCA-BR 11 72775320 72775320 single base substitution A T intron_variant SKCA-BR 11 72775321 72775321 single base substitution C T intron_variant SKCA-BR 11 72776439 72776439 single base substitution A C intron_variant SKCA-BR 11 72779858 72779858 insertion of <=200bp - TA intron_variant SKCA-BR 11 72780548 72780548 single base substitution G A intron_variant SKCA-BR 11 72781594 72781594 single base substitution G A intron_variant SKCA-BR 11 72782474 72782474 single base substitution C T intron_variant SKCA-BR 11 72783284 72783284 single base substitution G A intron_variant SKCA-BR 11 72783790 72783790 single base substitution G C intron_variant SKCA-BR 11 72787619 72787619 single base substitution A T intron_variant SKCA-BR 11 72788142 72788142 insertion of <=200bp - CA intron_variant SKCA-BR 11 72788821 72788821 single base substitution G A intron_variant SKCA-BR 11 72788830 72788830 single base substitution G A intron_variant SKCA-BR 11 72793408 72793408 single base substitution G A intron_variant SKCA-BR 11 72793413 72793413 single base substitution G A intron_variant SKCA-BR 11 72793570 72793570 single base substitution C A intron_variant SKCA-BR 11 72795310 72795310 single base substitution C T intron_variant SKCA-BR 11 72795658 72795658 single base substitution G A intron_variant SKCA-BR 11 72804886 72804886 single base substitution G A intron_variant SKCA-BR 11 72810993 72810993 single base substitution C T intron_variant SKCA-BR 11 72810994 72810994 single base substitution T C intron_variant SKCA-BR 11 72820836 72820836 single base substitution G A intron_variant SKCA-BR 11 72820982 72820982 single base substitution C T intron_variant SKCA-BR 11 72826631 72826631 single base substitution G A intron_variant SKCA-BR 11 72829228 72829228 single base substitution G A intron_variant SKCA-BR 11 72829509 72829509 single base substitution C T intron_variant SKCA-BR 11 72835968 72835968 single base substitution G A intron_variant SKCA-BR 11 72837601 72837601 single base substitution C T intron_variant SKCA-BR 11 72844830 72844830 single base substitution T C intron_variant SKCA-BR 11 72844837 72844839 deletion of <=200bp CAA - intron_variant SKCA-BR 11 72846983 72846983 single base substitution G A intron_variant SKCA-BR 11 72847877 72847877 single base substitution G A intron_variant SKCM-US 11 72549866 72549866 single base substitution C T downstream_gene_variant SKCM-US 11 72549866 72549866 single base substitution C T synonymous_variant K595K 1785G>A SKCM-US 11 72549866 72549866 single base substitution C T synonymous_variant K675K 2025G>A SKCM-US 11 72549866 72549866 single base substitution C T synonymous_variant K731K 2193G>A SKCM-US 11 72549866 72549866 single base substitution C T synonymous_variant K755K 2265G>A SKCM-US 11 72549866 72549866 single base substitution C T synonymous_variant K92K 276G>A SKCM-US 11 72551959 72551959 single base substitution C T downstream_gene_variant SKCM-US 11 72551959 72551959 single base substitution C T missense_variant R565K 1694G>A SKCM-US 11 72551959 72551959 single base substitution C T missense_variant R62K 185G>A SKCM-US 11 72551959 72551959 single base substitution C T missense_variant R645K 1934G>A SKCM-US 11 72551959 72551959 single base substitution C T missense_variant R701K 2102G>A SKCM-US 11 72551959 72551959 single base substitution C T missense_variant R725K 2174G>A SKCM-US 11 72552619 72552619 single base substitution A G downstream_gene_variant SKCM-US 11 72552619 72552619 single base substitution A G missense_variant S510P 1528T>C SKCM-US 11 72552619 72552619 single base substitution A G missense_variant S590P 1768T>C SKCM-US 11 72552619 72552619 single base substitution A G missense_variant S646P 1936T>C SKCM-US 11 72552619 72552619 single base substitution A G missense_variant S670P 2008T>C SKCM-US 11 72552619 72552619 single base substitution A G missense_variant S7P 19T>C SKCM-US 11 72560874 72560874 single base substitution C T exon_variant SKCM-US 11 72560874 72560874 single base substitution C T missense_variant D321N 961G>A SKCM-US 11 72560874 72560874 single base substitution C T missense_variant D401N 1201G>A SKCM-US 11 72560874 72560874 single base substitution C T missense_variant D457N 1369G>A SKCM-US 11 72560874 72560874 single base substitution C T missense_variant D481N 1441G>A SKCM-US 11 72560920 72560920 single base substitution G T exon_variant SKCM-US 11 72560920 72560920 single base substitution G T synonymous_variant T305T 915C>A SKCM-US 11 72560920 72560920 single base substitution G T synonymous_variant T385T 1155C>A SKCM-US 11 72560920 72560920 single base substitution G T synonymous_variant T441T 1323C>A SKCM-US 11 72560920 72560920 single base substitution G T synonymous_variant T465T 1395C>A SKCM-US 11 72579048 72579048 single base substitution G A exon_variant SKCM-US 11 72579048 72579048 single base substitution G A synonymous_variant A254A 762C>T SKCM-US 11 72579048 72579048 single base substitution G A synonymous_variant A334A 1002C>T SKCM-US 11 72579048 72579048 single base substitution G A synonymous_variant A390A 1170C>T SKCM-US 11 72579048 72579048 single base substitution G A synonymous_variant A414A 1242C>T SKCM-US 11 72598615 72598615 single base substitution A C exon_variant SKCM-US 11 72598615 72598615 single base substitution A C missense_variant L213R 638T>G SKCM-US 11 72598615 72598615 single base substitution A C missense_variant L293R 878T>G SKCM-US 11 72598615 72598615 single base substitution A C missense_variant L349R 1046T>G SKCM-US 11 72598615 72598615 single base substitution A C missense_variant L373R 1118T>G SKCM-US 11 72600882 72600882 single base substitution G T missense_variant Q209K 625C>A SKCM-US 11 72600882 72600882 single base substitution G T missense_variant Q289K 865C>A SKCM-US 11 72600882 72600882 single base substitution G T missense_variant Q345K 1033C>A SKCM-US 11 72600882 72600882 single base substitution G T missense_variant Q369K 1105C>A SKCM-US 11 72600882 72600882 single base substitution G T upstream_gene_variant SKCM-US 11 72695196 72695196 single base substitution G A downstream_gene_variant SKCM-US 11 72695196 72695196 single base substitution G A synonymous_variant T158T 474C>T SKCM-US 11 72695196 72695196 single base substitution G A synonymous_variant T214T 642C>T SKCM-US 11 72695196 72695196 single base substitution G A synonymous_variant T54T 162C>T SKCM-US 11 72695196 72695196 single base substitution G A synonymous_variant T56T 168C>T SKCM-US 11 72794770 72794770 single base substitution C G 5_prime_UTR_variant SKCM-US 11 72794770 72794770 single base substitution C G missense_variant K24N 72G>C SKCM-US 11 72794770 72794770 single base substitution C G missense_variant K45N 135G>C STAD-US 11 72553748 72553748 single base substitution C T downstream_gene_variant STAD-US 11 72553748 72553748 single base substitution C T intron_variant STAD-US 11 72553748 72553748 single base substitution C T missense_variant R479H 1436G>A STAD-US 11 72553748 72553748 single base substitution C T missense_variant R559H 1676G>A STAD-US 11 72553748 72553748 single base substitution C T missense_variant R615H 1844G>A STAD-US 11 72553748 72553748 single base substitution C T missense_variant R639H 1916G>A STAD-US 11 72553749 72553749 single base substitution G A downstream_gene_variant STAD-US 11 72553749 72553749 single base substitution G A intron_variant STAD-US 11 72553749 72553749 single base substitution G A missense_variant R479C 1435C>T STAD-US 11 72553749 72553749 single base substitution G A missense_variant R559C 1675C>T STAD-US 11 72553749 72553749 single base substitution G A missense_variant R615C 1843C>T STAD-US 11 72553749 72553749 single base substitution G A missense_variant R639C 1915C>T STAD-US 11 72554356 72554356 single base substitution G A 3_prime_UTR_variant STAD-US 11 72554356 72554356 single base substitution G A 5_prime_UTR_variant STAD-US 11 72554356 72554356 single base substitution G A synonymous_variant G379G 1137C>T STAD-US 11 72554356 72554356 single base substitution G A synonymous_variant G459G 1377C>T STAD-US 11 72554356 72554356 single base substitution G A synonymous_variant G515G 1545C>T STAD-US 11 72554356 72554356 single base substitution G A synonymous_variant G539G 1617C>T STAD-US 11 72598525 72598525 single base substitution C T exon_variant STAD-US 11 72598525 72598525 single base substitution C T missense_variant R243H 728G>A STAD-US 11 72598525 72598525 single base substitution C T missense_variant R323H 968G>A STAD-US 11 72598525 72598525 single base substitution C T missense_variant R379H 1136G>A STAD-US 11 72598525 72598525 single base substitution C T missense_variant R403H 1208G>A STAD-US 11 72600987 72600987 single base substitution G A stop_gained R174* 520C>T STAD-US 11 72600987 72600987 single base substitution G A stop_gained R254* 760C>T STAD-US 11 72600987 72600987 single base substitution G A stop_gained R310* 928C>T STAD-US 11 72600987 72600987 single base substitution G A stop_gained R334* 1000C>T STAD-US 11 72600987 72600987 single base substitution G A upstream_gene_variant STAD-US 11 72695167 72695167 single base substitution C T downstream_gene_variant STAD-US 11 72695167 72695167 single base substitution C T missense_variant R168H 503G>A STAD-US 11 72695167 72695167 single base substitution C T missense_variant R224H 671G>A STAD-US 11 72695167 72695167 single base substitution C T missense_variant R64H 191G>A STAD-US 11 72695167 72695167 single base substitution C T missense_variant R66H 197G>A STAD-US 11 72695249 72695249 single base substitution G T downstream_gene_variant STAD-US 11 72695249 72695249 single base substitution G T synonymous_variant R141R 421C>A STAD-US 11 72695249 72695249 single base substitution G T synonymous_variant R197R 589C>A STAD-US 11 72695249 72695249 single base substitution G T synonymous_variant R37R 109C>A STAD-US 11 72695249 72695249 single base substitution G T synonymous_variant R39R 115C>A STAD-US 11 72712093 72712093 deletion of <=200bp T - frameshift_variant N110 STAD-US 11 72712093 72712093 deletion of <=200bp T - frameshift_variant N54 STAD-US 11 72712093 72712093 deletion of <=200bp T - frameshift_variant N89 STAD-US 11 72712093 72712093 deletion of <=200bp T - intron_variant THCA-SA 11 72548453 72548453 single base substitution T C 3_prime_UTR_variant THCA-SA 11 72548453 72548453 single base substitution T C downstream_gene_variant UCEC-US 11 72549849 72549849 single base substitution A T downstream_gene_variant UCEC-US 11 72549849 72549849 single base substitution A T missense_variant I601N 1802T>A UCEC-US 11 72549849 72549849 single base substitution A T missense_variant I681N 2042T>A UCEC-US 11 72549849 72549849 single base substitution A T missense_variant I737N 2210T>A UCEC-US 11 72549849 72549849 single base substitution A T missense_variant I761N 2282T>A UCEC-US 11 72549849 72549849 single base substitution A T missense_variant I98N 293T>A UCEC-US 11 72552500 72552500 single base substitution G A downstream_gene_variant UCEC-US 11 72552500 72552500 single base substitution G A splice_region_variant UCEC-US 11 72552537 72552537 single base substitution C A downstream_gene_variant UCEC-US 11 72552537 72552537 single base substitution C A missense_variant R34M 101G>T UCEC-US 11 72552537 72552537 single base substitution C A missense_variant R537M 1610G>T UCEC-US 11 72552537 72552537 single base substitution C A missense_variant R617M 1850G>T UCEC-US 11 72552537 72552537 single base substitution C A missense_variant R673M 2018G>T UCEC-US 11 72552537 72552537 single base substitution C A missense_variant R697M 2090G>T UCEC-US 11 72553855 72553855 single base substitution C A downstream_gene_variant UCEC-US 11 72553855 72553855 single base substitution C A intron_variant UCEC-US 11 72553855 72553855 single base substitution C A missense_variant E443D 1329G>T UCEC-US 11 72553855 72553855 single base substitution C A missense_variant E523D 1569G>T UCEC-US 11 72553855 72553855 single base substitution C A missense_variant E579D 1737G>T UCEC-US 11 72553855 72553855 single base substitution C A missense_variant E603D 1809G>T UCEC-US 11 72560875 72560875 single base substitution G A exon_variant UCEC-US 11 72560875 72560875 single base substitution G A synonymous_variant F320F 960C>T UCEC-US 11 72560875 72560875 single base substitution G A synonymous_variant F400F 1200C>T UCEC-US 11 72560875 72560875 single base substitution G A synonymous_variant F456F 1368C>T UCEC-US 11 72560875 72560875 single base substitution G A synonymous_variant F480F 1440C>T UCEC-US 11 72560908 72560908 single base substitution T G exon_variant UCEC-US 11 72560908 72560908 single base substitution T G missense_variant E309D 927A>C UCEC-US 11 72560908 72560908 single base substitution T G missense_variant E389D 1167A>C UCEC-US 11 72560908 72560908 single base substitution T G missense_variant E445D 1335A>C UCEC-US 11 72560908 72560908 single base substitution T G missense_variant E469D 1407A>C UCEC-US 11 72613641 72613641 single base substitution C T missense_variant A131T 391G>A UCEC-US 11 72613641 72613641 single base substitution C T missense_variant A235T 703G>A UCEC-US 11 72613641 72613641 single base substitution C T missense_variant A291T 871G>A UCEC-US 11 72696122 72696122 single base substitution C A downstream_gene_variant UCEC-US 11 72696122 72696122 single base substitution C A missense_variant Q131H 393G>T UCEC-US 11 72696122 72696122 single base substitution C A missense_variant Q187H 561G>T UCEC-US 11 72696122 72696122 single base substitution C A missense_variant Q27H 81G>T UCEC-US 11 72696122 72696122 single base substitution C A missense_variant Q29H 87G>T UCEC-US 11 72700091 72700091 single base substitution C A 5_prime_UTR_variant UCEC-US 11 72700091 72700091 single base substitution C A missense_variant D126Y 376G>T UCEC-US 11 72700091 72700091 single base substitution C A missense_variant D147Y 439G>T UCEC-US 11 72700091 72700091 single base substitution C A missense_variant D91Y 271G>T UCEC-US 11 72700091 72700091 single base substitution C A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand C086 COSM690772 c.165C>T p.F55F Substitution - coding silent 11:73001044-73001044 - TCGA-AA-3555-01 COSM292314 c.2055A>G p.*685W Nonstop extension 11:72838791-72838791 - YUKLAB COSM1704368 c.1784C>T p.A595V Substitution - Missense 11:72841558-72841558 - I2L-P24Tb-Tumor-Organoid COSM5360829 c.1200C>A p.F400L Substitution - Missense 11:72849830-72849830 - TCGA-BR-6452-01 COSM4036561 c.1377C>T p.G459G Substitution - coding silent 11:72843311-72843311 - TCGA-18-3409-01 COSM690772 c.165C>T p.F55F Substitution - coding silent 11:73001044-73001044 - HCC2998 COSM2016758 c.36T>C p.D12D Substitution - coding silent 11:73015847-73015847 - ESCC_76 COSM1168734 c.995C>T p.A332V Substitution - Missense 11:72868010-72868010 - 3206A7_009_T COSM5038937 c.1783G>T p.A595S Substitution - Missense 11:72841559-72841559 - TCGA-EK-A2R8-01 COSM4822844 c.1900C>T p.H634Y Substitution - Missense 11:72840948-72840948 - TCGA-BS-A0UV-01 COSM931772 c.1167A>C p.E389D Substitution - Missense 11:72849863-72849863 - PT15_1 COSM5897789 c.911C>T p.S304L Substitution - Missense 11:72887537-72887537 - TCGA-DI-A0WH-01 COSM931776 c.444T>C p.A148A Substitution - coding silent 11:72984181-72984181 - SJHGG033_D COSM4969586 c.979A>T p.I327L Substitution - Missense 11:72868026-72868026 - SJHGG033_R COSM4969586 c.979A>T p.I327L Substitution - Missense 11:72868026-72868026 - HCT8 COSM2016736 c.451G>C p.A151P Substitution - Missense 11:72984174-72984174 - TCGA-EE-A29M-06 COSM3453136 c.474C>T p.T158T Substitution - coding silent 11:72984151-72984151 - TCGA-EE-A2GO-06 COSM3453132 c.878T>G p.L293R Substitution - Missense 11:72887570-72887570 - 8035388 COSM1168734 c.995C>T p.A332V Substitution - Missense 11:72868010-72868010 - TCGA-BR-6852-01 COSM4036559 c.1675C>T p.R559C Substitution - Missense 11:72842704-72842704 - HCC153T COSM3703680 c.928G>A p.E310K Substitution - Missense 11:72887520-72887520 - TCGA-A7-A26I-01 COSM931762 c.1887C>T p.N629N Substitution - coding silent 11:72841455-72841455 - TCGA-HU-8602-01 COSM4036567 c.503G>A p.R168H Substitution - Missense 11:72984122-72984122 - PTC-7C COSM4146309 c.1868C>A p.P623H Substitution - Missense 11:72841474-72841474 - CHEWS005 COSM4574778 c.62G>A p.R21Q Substitution - Missense 11:73015821-73015821 - HCT116 COSM2016680 c.1437C>T p.S479S Substitution - coding silent 11:72843251-72843251 - 342-01-2TD COSM5418434 c.1328T>C p.I443T Substitution - Missense 11:72843480-72843480 - PD4952a COSM5787929 c.357T>C p.S119S Substitution - coding silent 11:72985113-72985113 - H322T COSM1194959 c.1070T>G p.V357G Substitution - Missense 11:72867935-72867935 - 2492730 COSM5728794 c.162C>T p.N54N Substitution - coding silent 11:73001047-73001047 - TCGA-AO-A128-01 COSM5209594 c.1400delA p.K467fs*12 Deletion - Frameshift 11:72843288-72843288 - ME001T COSM221777 c.1145A>C p.N382T Substitution - Missense 11:72849885-72849885 - TCGA-EE-A2MR-06 COSM3453128 c.1934G>A p.R645K Substitution - Missense 11:72840914-72840914 - YUNACK COSM1704370 c.1690C>T p.P564S Substitution - Missense 11:72842689-72842689 - C086 COSM5531156 c.666C>T p.V222V Substitution - coding silent 11:72902633-72902633 - TCGA-AA-A010-01 COSM281124 c.341A>G p.D114G Substitution - Missense 11:72988976-72988976 - TCGA-13-1498-01 COSM81179 c.1479G>A p.T493T Substitution - coding silent 11:72843209-72843209 - TCGA-AA-3510-01 COSM5098960 c.1141-8T>G p.? Unknown 11:72849897-72849897 - TCGA-EE-A2GT-06 COSM3870174 c.1768T>C p.S590P Substitution - Missense 11:72841574-72841574 - TCGA-A5-A0VP-01 COSM931760 c.2042T>A p.I681N Substitution - Missense 11:72838804-72838804 - HCC028T COSM5807714 c.751G>C p.D251H Substitution - Missense 11:72902548-72902548 - LUAD-F00257 COSM340040 c.1469G>C p.R490P Substitution - Missense 11:72843219-72843219 - HCC92 COSM1605201 c.867A>G p.Q289Q Substitution - coding silent 11:72889835-72889835 - TCGA-D7-A4YU-01 COSM4036557 c.1676G>A p.R559H Substitution - Missense 11:72842703-72842703 - A549 COSM1193327 c.1220C>G p.P407R Substitution - Missense 11:72849810-72849810 - T2949 COSM4684217 c.1888G>A p.E630K Substitution - Missense 11:72841454-72841454 - PD13756a COSM5773459 c.1109C>T p.P370L Substitution - Missense 11:72867896-72867896 - TCGA-AA-3821-01 COSM5111107 c.837_873+577>15 p.? Unknown 11:72889252-72889865 - ESCC-F66 COSM5048278 c.871C>T p.R291W Substitution - Missense 11:72889831-72889831 - LUAD-RT-S01770 COSM381141 c.1529A>C p.D510A Substitution - Missense 11:72843159-72843159 - HCC92T COSM1605201 c.867A>G p.Q289Q Substitution - coding silent 11:72889835-72889835 - S00501 COSM5658147 c.508T>C p.Y170H Substitution - Missense 11:72984117-72984117 - OSCC-GB_00020111 COSM3710431 c.1585G>A p.E529K Substitution - Missense 11:72842794-72842794 - I2L-P24Ta-Tumor-Organoid COSM5360829 c.1200C>A p.F400L Substitution - Missense 11:72849830-72849830 - TCGA-AX-A0J1-01 COSM931762 c.1887C>T p.N629N Substitution - coding silent 11:72841455-72841455 - TCGA-F4-6856-01 COSM1356858 c.740C>T p.P247L Substitution - Missense 11:72902559-72902559 - HCC122T COSM1605203 c.454A>G p.R152G Substitution - Missense 11:72984171-72984171 - PDA_004 COSM4997987 c.759C>G p.S253R Substitution - Missense 11:72889943-72889943 - Pat_50_A COSM5839565 c.460G>A p.D154N Substitution - Missense 11:72984165-72984165 - PTC-7C COSM4146311 c.1860G>A p.L620L Substitution - coding silent 11:72841482-72841482 - TCGA-AA-3972-01 COSM297286 c.1183G>A p.D395N Substitution - Missense 11:72849847-72849847 - TCGA-B0-4824-01 COSM3359388 c.827C>G p.A276G Substitution - Missense 11:72889875-72889875 - T3446 COSM4684219 c.641delT p.L214fs*2 Deletion - Frameshift 11:72921847-72921847 - TARGET-30-PASNZU COSM1284943 c.1874C>A p.S625Y Substitution - Missense 11:72841468-72841468 - TCGA-B5-A0JY-01 COSM931780 c.271G>T p.D91Y Substitution - Missense 11:72989046-72989046 - TCGA-B5-A0JY-01 COSM931774 c.703G>A p.A235T Substitution - Missense 11:72902596-72902596 - 587238 COSM1206945 c.1852A>C p.S618R Substitution - Missense 11:72841490-72841490 - BD152T COSM5506962 c.1324G>A p.V442M Substitution - Missense 11:72843484-72843484 - TCGA-AD-5900-01 COSM1356860 c.692delT p.L231fs*26 Deletion - Frameshift 11:72902607-72902607 - TCGA-AP-A0LM-01 COSM931778 c.393G>T p.Q131H Substitution - Missense 11:72985077-72985077 - 201 COSM3721807 c.103C>T p.L35F Substitution - Missense 11:73001106-73001106 - TCGA-AA-3819-01 COSM294017 c.1617T>C p.R539R Substitution - coding silent 11:72842762-72842762 - HCC153 COSM3703680 c.928G>A p.E310K Substitution - Missense 11:72887520-72887520 - LUAD-2GUGK COSM400464 c.832C>T p.R278C Substitution - Missense 11:72889870-72889870 - HCT15 COSM2016736 c.451G>C p.A151P Substitution - Missense 11:72984174-72984174 - TCGA-EE-A20C-06 COSM1356856 c.1002C>T p.A334A Substitution - coding silent 11:72868003-72868003 - PD11372a COSM5767190 c.1928C>T p.A643V Substitution - Missense 11:72840920-72840920 - 0119_CRUK_PC_0119_T1_DNA COSM5422452 c.911C>G p.S304* Substitution - Nonsense 11:72887537-72887537 - TCGA-A6-3809-01 COSM1356849 c.1933A>G p.R645G Substitution - Missense 11:72840915-72840915 - A9 COSM2016668 c.1750G>C p.E584Q Substitution - Missense 11:72842629-72842629 - TCGA-85-6561-01 COSM690774 c.451G>T p.A151S Substitution - Missense 11:72984174-72984174 - TCGA-B5-A0JY-01 COSM931766 c.1569G>T p.E523D Substitution - Missense 11:72842810-72842810 - TCGA-AS-3778-01 COSM1492669 c.1538-2A>T p.? Unknown 11:72842843-72842843 - PT52 COSM5940132 c.1970C>T p.P657L Substitution - Missense 11:72840878-72840878 - BHY COSM2016716 c.750T>A p.S250R Substitution - Missense 11:72902549-72902549 - TCGA-AA-A010-01 COSM281122 c.593G>A p.R198Q Substitution - Missense 11:72921895-72921895 - TCGA-ER-A19P-06 COSM3453130 c.1155C>A p.T385T Substitution - coding silent 11:72849875-72849875 - TCGA-CA-6717-01 COSM1356856 c.1002C>T p.A334A Substitution - coding silent 11:72868003-72868003 - I2L-P24Tb-Tumor-Biopsy COSM5360829 c.1200C>A p.F400L Substitution - Missense 11:72849830-72849830 - ESCC_79 COSM5635571 c.1883C>G p.A628G Substitution - Missense 11:72841459-72841459 - TCGA-AO-A03M-01 COSM3810382 c.148G>C p.E50Q Substitution - Missense 11:73001061-73001061 - TCGA-13-0793-01 COSM111461 c.197delT p.L66fs*1 Deletion - Frameshift 11:73001012-73001012 - WA49 COSM239851 c.913G>T p.E305* Substitution - Nonsense 11:72887535-72887535 - SNU-C4 COSM4652071 c.1103G>A p.R368H Substitution - Missense 11:72867902-72867902 - TCGA-66-2754-01 COSM690778 c.923G>T p.R308L Substitution - Missense 11:72887525-72887525 - TCGA-AA-3492-01 COSM931762 c.1887C>T p.N629N Substitution - coding silent 11:72841455-72841455 - 422_T COSM3953781 c.219+3A>G p.? Unknown 11:73000987-73000987 - I2L-P24Ta-Tumor-Biopsy COSM5360829 c.1200C>A p.F400L Substitution - Missense 11:72849830-72849830 - HT115 COSM2016682 c.1422G>A p.S474S Substitution - coding silent 11:72843266-72843266 - TCGA-CA-6717-01 COSM1356852 c.1380A>G p.Q460Q Substitution - coding silent 11:72843308-72843308 - MO_1277 COSM5563291 c.256C>A p.Q86K Substitution - Missense 11:72989061-72989061 - TCGA-AZ-4315-01 COSM1356854 c.1170C>T p.G390G Substitution - coding silent 11:72849860-72849860 - TCGA-AP-A0LM-01 COSM931764 c.1850G>T p.R617M Substitution - Missense 11:72841492-72841492 - BD180T COSM5495122 c.889G>C p.E297Q Substitution - Missense 11:72887559-72887559 - TCGA-EE-A3AC-06 COSM3453134 c.865C>A p.Q289K Substitution - Missense 11:72889837-72889837 - TCGA-BR-8487-01 COSM4036563 c.968G>A p.R323H Substitution - Missense 11:72887480-72887480 - TCGA-D3-A5GO-06 COSM3453126 c.2025G>A p.K675K Substitution - coding silent 11:72838821-72838821 - 3N27-VS-3T27 COSM4980247 c.511C>T p.Q171* Substitution - Nonsense 11:72984114-72984114 - LUAD-RT-S01477 COSM377428 c.1291G>A p.E431K Substitution - Missense 11:72843517-72843517 - HCA7 COSM4611988 c.766_769delTTAG p.L256fs*12 Deletion - Frameshift 11:72889933-72889936 - TCGA-D7-8578-01 COSM4036569 c.421C>A p.R141R Substitution - coding silent 11:72984204-72984204 - Au3 COSM5601483 c.105C>T p.L35L Substitution - coding silent 11:73001104-73001104 - 2T COSM3710431 c.1585G>A p.E529K Substitution - Missense 11:72842794-72842794 - TCGA-AZ-4315-01 COSM1356862 c.195C>T p.S65S Substitution - coding silent 11:73001014-73001014 - HDC54 COSM4636250 c.1466G>A p.S489N Substitution - Missense 11:72843222-72843222 - TCGA-B5-A0JY-01 COSM931770 c.1200C>T p.F400F Substitution - coding silent 11:72849830-72849830 - TCGA-ER-A19W-06 COSM4398719 c.1201G>A p.D401N Substitution - Missense 11:72849829-72849829 - 8029775 COSM1168734 c.995C>T p.A332V Substitution - Missense 11:72868010-72868010 - CSCC-31-T COSM4567838 c.724_725CC>TT p.P242F Substitution - Missense 11:72902574-72902575 - TCGA-AA-3966-01 COSM272687 c.843T>G p.R281R Substitution - coding silent 11:72889859-72889859 - HCC122 COSM1605203 c.454A>G p.R152G Substitution - Missense 11:72984171-72984171 - pfg068T COSM4757325 c.1660G>T p.G554W Substitution - Missense 11:72842719-72842719 - PD11372a COSM5767144 c.1795C>G p.P599A Substitution - Missense 11:72841547-72841547 - B18-Tumor COSM3931435 c.1337G>T p.G446V Substitution - Missense 11:72843471-72843471 - HCC2998 COSM2016752 c.202G>T p.E68* Substitution - Nonsense 11:73001007-73001007 - TCGA-HU-A4H8-01 COSM4036565 c.760C>T p.R254* Substitution - Nonsense 11:72889942-72889942 - DLD1 COSM2016736 c.451G>C p.A151P Substitution - Missense 11:72984174-72984174 - 6481_PT COSM5753802 c.1895G>A p.S632N Substitution - Missense 11:72840953-72840953 - PTC-7C COSM4146305 c.1872G>C p.R624R Substitution - coding silent 11:72841470-72841470 - BK0033 COSM4186962 c.1275G>C p.K425N Substitution - Missense 11:72849755-72849755 - HCC022T COSM5817600 c.756+4A>T p.? Unknown 11:72902539-72902539 - HCT116 COSM2016718 c.681T>C p.L227L Substitution - coding silent 11:72902618-72902618 - SNUH_G35_S1 COSM3676313 c.2027T>C p.I676T Substitution - Missense 11:72838819-72838819 - PTC-7C COSM4146307 c.1871G>C p.R624P Substitution - Missense 11:72841471-72841471 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.743346 11q13.4

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L349R c.1046T>G 11 72598615 CM A - Frameshift p.L122*fs*1 c.365delT 11 72712057 OV AGC - IntronicDeletion . c.2056+88_2056+90delGCT 11 72552409 CM A G Missense p.F678S c.2033T>C 11 72552522 CM A G Missense p.I499T c.1496T>C 11 72554525 CLL A G Missense p.S646P c.1936T>C 11 72552619 CM A G Synonymous p.R595R c.1785T>C 11 72553807 COREAD A T Missense p.I737N c.2210T>A 11 72549849 UCEC C A Missense p.A207S c.619G>T 11 72695219 LUSC C A Missense p.R364L c.1091G>T 11 72598570 LUSC CC AA Missense p.E353* c.1056_1057delinsTT 11 72598604 CM CC AA SpliceAcceptorBlockSubstitution . c.166-1_166delinsTT 11 72726930 CM CC TT SpliceDonorBlockSubstitution . c.1040_1041delinsAA 11 72600874 CM CG AT Missense p.E442* c.1323_1324delinsAT 11 72560919 CM CG AT Missense p.R391M c.1171_1172delinsAT 11 72579046 CM C G Missense p.G610R c.1828G>C 11 72553764 COREAD C G Missense p.K45N c.135G>C 11 72794770 CM C T Missense p.D451N c.1351G>A 11 72560892 COREAD C T Missense p.E500K c.1498G>A 11 72554523 HNSC C T Missense p.R77Q c.230G>A 11 72726866 LUAD C T Synonymous p.T549T c.1647G>A 11 72554254 OV G A IntronicSNV . c.1527+36C>T 11 72554458 CM G A IntronicSNV . c.706-18579C>T 11 72651574 CM G A Missense p.H344Y c.1030C>T 11 72600885 HNSC G A Missense p.R615C c.1843C>T 11 72553749 STAD G A Synonymous p.A390A c.1170C>T 11 72579048 CM G A Synonymous p.N685N c.2055C>T 11 72552500 BRCA G A Synonymous p.T214T c.642C>T 11 72695196 CM G C Missense p.A332G c.995C>G 11 72600920 RCCC GG TT Missense p.P620K c.1858_1859delinsAA 11 72553733 CM GG TT Missense p.S274* c.821_822delinsAA 11 72632879 CM G T Missense p.Q345K c.1033C>A 11 72600882 CM G T Missense p.S681Y c.2042C>A 11 72552513 NB G T Synonymous p.T441T c.1323C>A 11 72560920 CM T - Frameshift p.K192Sfs*2 c.575delA 11 72696108 HNSC T - Frameshift p.N110Tfs*10 c.329delA 11 72712093 STAD T G Missense p.N438T c.1313A>C 11 72560930 CM