Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 4 152043252 152043252 + Missense_Mutation SNP C C G TCGA-OR-A5J4-01A-11D-A29I-10 TCGA-OR-A5J4-10A-01D-A29L-10 g.chr4:152043252C>G c.2364G>C c.(2362-2364)caG>caC p.Q788H BLCA 4 152054377 152054377 + Missense_Mutation SNP C C T TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr4:152054377C>T c.1727G>A c.(1726-1728)tGt>tAt p.C576Y BLCA 4 152056242 152056242 + Missense_Mutation SNP A A T TCGA-UY-A9PD-01A-11D-A38G-08 TCGA-UY-A9PD-10A-01D-A38J-08 g.chr4:152056242A>T c.1699T>A c.(1699-1701)Tca>Aca p.S567T BLCA 4 152065152 152065152 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 g.chr4:152065152C>G c.1362G>C c.(1360-1362)gaG>gaC p.E454D BLCA 4 152065413 152065413 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 g.chr4:152065413C>T c.1270G>A c.(1270-1272)Gaa>Aaa p.E424K BLCA 4 152069243 152069243 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 g.chr4:152069243G>C c.1073C>G c.(1072-1074)tCt>tGt p.S358C BLCA 4 152069283 152069283 + Missense_Mutation SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr4:152069283C>T c.1033G>A c.(1033-1035)Gag>Aag p.E345K BLCA 4 152070676 152070676 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chr4:152070676C>T c.953G>A c.(952-954)cGa>cAa p.R318Q BLCA 4 152086849 152086849 + Splice_Site SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 g.chr4:152086849C>T c.e7-1 BLCA 4 152095862 152095862 + Silent SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr4:152095862C>T c.654G>A c.(652-654)ggG>ggA p.G218G BLCA 4 152096135 152096135 + Missense_Mutation SNP C C G TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr4:152096135C>G c.381G>C c.(379-381)gaG>gaC p.E127D BLCA 4 152096430 152096430 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr4:152096430G>C c.86C>G c.(85-87)tCa>tGa p.S29* BRCA 4 152043323 152043323 + Missense_Mutation SNP C C A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 g.chr4:152043323C>A c.2293G>T c.(2293-2295)Gat>Tat p.D765Y BRCA 4 152054357 152054357 + Missense_Mutation SNP T T C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 g.chr4:152054357T>C c.1747A>G c.(1747-1749)Att>Gtt p.I583V BRCA 4 152056281 152056281 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr4:152056281C>T c.1660G>A c.(1660-1662)Gat>Aat p.D554N BRCA 4 152080503 152080503 + Splice_Site SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr4:152080503A>G c.804T>C c.(802-804)tgT>tgC p.C268C BRCA 4 152086824 152086824 + Missense_Mutation SNP G G A TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 g.chr4:152086824G>A c.719C>T c.(718-720)aCa>aTa p.T240I BRCA 4 152095845 152095845 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr4:152095845G>T c.671C>A c.(670-672)tCt>tAt p.S224Y BRCA 4 152096472 152096472 + Missense_Mutation SNP G G T TCGA-B6-A0X0-01A-21D-A10Y-09 TCGA-B6-A0X0-10A-01D-A110-09 g.chr4:152096472G>T c.44C>A c.(43-45)tCc>tAc p.S15Y CESC 4 152054300 152054300 + Missense_Mutation SNP C C G TCGA-EX-A3L1-01A-11D-A21Q-09 TCGA-EX-A3L1-10A-01D-A21Q-09 g.chr4:152054300C>G c.1804G>C c.(1804-1806)Gag>Cag p.E602Q CESC 4 152065075 152065075 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr4:152065075C>G c.1439G>C c.(1438-1440)aGa>aCa p.R480T COAD 4 152048856 152048856 + Missense_Mutation SNP T T C TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr4:152048856T>C c.2170A>G c.(2170-2172)Agt>Ggt p.S724G COAD 4 152049322 152049322 + Splice_Site SNP C C A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr4:152049322C>A c.2158G>T c.(2158-2160)Gct>Tct p.A720S COAD 4 152054200 152054200 + Missense_Mutation SNP C C A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr4:152054200C>A c.1904G>T c.(1903-1905)gGt>gTt p.G635V COAD 4 152054264 152054264 + Nonsense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:152054264G>A c.1840C>T c.(1840-1842)Cga>Tga p.R614* COAD 4 152054382 152054382 + Silent SNP T T C TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr4:152054382T>C c.1722A>G c.(1720-1722)tcA>tcG p.S574S COAD 4 152058914 152058914 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr4:152058914G>A c.1626C>T c.(1624-1626)ggC>ggT p.G542G COAD 4 152060948 152060948 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr4:152060948C>T c.1504G>A c.(1504-1506)Gtt>Att p.V502I COAD 4 152065201 152065201 + Splice_Site SNP C C T TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr4:152065201C>T c.1313G>A c.(1312-1314)cGt>cAt p.R438H COAD 4 152069331 152069331 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr4:152069331T>C c.985A>G c.(985-987)Aat>Gat p.N329D COAD 4 152096479 152096479 + Missense_Mutation SNP T T A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr4:152096479T>A c.37A>T c.(37-39)Att>Ttt p.I13F COADREAD 4 152048856 152048856 + Missense_Mutation SNP T T C TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr4:152048856T>C c.2170A>G c.(2170-2172)Agt>Ggt p.S724G COADREAD 4 152049322 152049322 + Splice_Site SNP C C A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr4:152049322C>A c.2158G>T c.(2158-2160)Gct>Tct p.A720S COADREAD 4 152054200 152054200 + Missense_Mutation SNP C C A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr4:152054200C>A c.1904G>T c.(1903-1905)gGt>gTt p.G635V COADREAD 4 152054264 152054264 + Nonsense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:152054264G>A c.1840C>T c.(1840-1842)Cga>Tga p.R614* COADREAD 4 152054382 152054382 + Silent SNP T T C TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr4:152054382T>C c.1722A>G c.(1720-1722)tcA>tcG p.S574S COADREAD 4 152058914 152058914 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr4:152058914G>A c.1626C>T c.(1624-1626)ggC>ggT p.G542G COADREAD 4 152060948 152060948 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr4:152060948C>T c.1504G>A c.(1504-1506)Gtt>Att p.V502I COADREAD 4 152065201 152065201 + Splice_Site SNP C C T TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr4:152065201C>T c.1313G>A c.(1312-1314)cGt>cAt p.R438H COADREAD 4 152069331 152069331 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr4:152069331T>C c.985A>G c.(985-987)Aat>Gat p.N329D COADREAD 4 152096479 152096479 + Missense_Mutation SNP T T A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr4:152096479T>A c.37A>T c.(37-39)Att>Ttt p.I13F DLBC 4 152069110 152069110 + Silent SNP A A C TCGA-GS-A9TQ-01A-11D-A382-10 TCGA-GS-A9TQ-10A-01D-A385-10 g.chr4:152069110A>C c.1206T>G c.(1204-1206)cgT>cgG p.R402R ESCA 4 152043270 152043270 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr4:152043270G>T c.2346C>A c.(2344-2346)aaC>aaA p.N782K ESCA 4 152048838 152048838 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 g.chr4:152048838G>T c.2188C>A c.(2188-2190)Ccg>Acg p.P730T ESCA 4 152086755 152086755 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr4:152086755G>T c.788C>A c.(787-789)gCc>gAc p.A263D GBM 4 152096196 152096196 + Missense_Mutation SNP G G C TCGA-06-0241-01A-02D-1491-08 TCGA-06-0241-10A-01D-1491-08 g.chr4:152096196G>C c.320C>G c.(319-321)cCa>cGa p.P107R GBMLGG 4 152048841 152048841 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:152048841C>T c.2185G>A c.(2185-2187)Gta>Ata p.V729I GBMLGG 4 152053505 152053506 + Frame_Shift_Del DEL TC TC - TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 g.chr4:152053505_152053506delTC c.1948_1949delGA c.(1948-1950)gaafs p.E650fs GBMLGG 4 152070714 152070714 + Splice_Site SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:152070714C>A c.e9-1 GBMLGG 4 152096196 152096196 + Missense_Mutation SNP G G C TCGA-06-0241-01A-02D-1491-08 TCGA-06-0241-10A-01D-1491-08 g.chr4:152096196G>C c.320C>G c.(319-321)cCa>cGa p.P107R HNSC 4 152058967 152058967 + Silent SNP G G A TCGA-CV-7446-01A-11D-2229-08 TCGA-CV-7446-10A-01D-2229-08 g.chr4:152058967G>A c.1573C>T c.(1573-1575)Ctg>Ttg p.L525L HNSC 4 152065407 152065407 + Missense_Mutation SNP T T C TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 g.chr4:152065407T>C c.1276A>G c.(1276-1278)Att>Gtt p.I426V KIPAN 4 152048840 152048840 + Missense_Mutation SNP A A T TCGA-BP-4331-01A-01D-1366-10 TCGA-BP-4331-11A-01D-1366-10 g.chr4:152048840A>T c.2186T>A c.(2185-2187)gTa>gAa p.V729E KIPAN 4 152096316 152096316 + Missense_Mutation SNP T T A TCGA-MH-A55Z-01A-11D-A26P-10 TCGA-MH-A55Z-10A-01D-A26P-10 g.chr4:152096316T>A c.200A>T c.(199-201)gAg>gTg p.E67V KIPAN 4 152096322 152096322 + Missense_Mutation SNP G G A TCGA-MH-A55Z-01A-11D-A26P-10 TCGA-MH-A55Z-10A-01D-A26P-10 g.chr4:152096322G>A c.194C>T c.(193-195)tCt>tTt p.S65F KIPAN 4 152096326 152096326 + Frame_Shift_Del DEL C C - TCGA-MH-A55Z-01A-11D-A26P-10 TCGA-MH-A55Z-10A-01D-A26P-10 g.chr4:152096326delC c.190delG c.(190-192)gctfs p.A64fs KIRC 4 152048840 152048840 + Missense_Mutation SNP A A T TCGA-BP-4331-01A-01D-1366-10 TCGA-BP-4331-11A-01D-1366-10 g.chr4:152048840A>T c.2186T>A c.(2185-2187)gTa>gAa p.V729E KIRP 4 152096316 152096316 + Missense_Mutation SNP T T A TCGA-MH-A55Z-01A-11D-A26P-10 TCGA-MH-A55Z-10A-01D-A26P-10 g.chr4:152096316T>A c.200A>T c.(199-201)gAg>gTg p.E67V KIRP 4 152096322 152096322 + Missense_Mutation SNP G G A TCGA-MH-A55Z-01A-11D-A26P-10 TCGA-MH-A55Z-10A-01D-A26P-10 g.chr4:152096322G>A c.194C>T c.(193-195)tCt>tTt p.S65F KIRP 4 152096326 152096326 + Frame_Shift_Del DEL C C - TCGA-MH-A55Z-01A-11D-A26P-10 TCGA-MH-A55Z-10A-01D-A26P-10 g.chr4:152096326delC c.190delG c.(190-192)gctfs p.A64fs LGG 4 152048841 152048841 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:152048841C>T c.2185G>A c.(2185-2187)Gta>Ata p.V729I LGG 4 152053505 152053506 + Frame_Shift_Del DEL TC TC - TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 g.chr4:152053505_152053506delTC c.1948_1949delGA c.(1948-1950)gaafs p.E650fs LGG 4 152070714 152070714 + Splice_Site SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:152070714C>A c.e9-1 LIHC 4 152058972 152058972 + Missense_Mutation SNP T T A TCGA-CC-5262-01A-01D-A12Z-10 TCGA-CC-5262-10B-01D-A12Z-10 g.chr4:152058972T>A c.1568A>T c.(1567-1569)tAt>tTt p.Y523F LIHC 4 152080413 152080413 + Missense_Mutation SNP A A T TCGA-ED-A7PZ-01A-11D-A33Q-10 TCGA-ED-A7PZ-10A-01D-A33Q-10 g.chr4:152080413A>T c.894T>A c.(892-894)aaT>aaA p.N298K LIHC 4 152095911 152095911 + Missense_Mutation SNP T T C TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chr4:152095911T>C c.605A>G c.(604-606)gAc>gGc p.D202G LUAD 4 152043243 152043243 + Nonstop_Mutation SNP C C A TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr4:152043243C>A c.2373G>T c.(2371-2373)taG>taT p.*791Y LUAD 4 152043355 152043355 + Missense_Mutation SNP C C G TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr4:152043355C>G c.2261G>C c.(2260-2262)gGa>gCa p.G754A LUAD 4 152048799 152048799 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 g.chr4:152048799C>A c.2227G>T c.(2227-2229)Ggg>Tgg p.G743W LUAD 4 152049369 152049369 + Missense_Mutation SNP T T A TCGA-95-7562-01A-11D-2238-08 TCGA-95-7562-10B-01D-2238-08 g.chr4:152049369T>A c.2111A>T c.(2110-2112)cAg>cTg p.Q704L LUAD 4 152049490 152049490 + Missense_Mutation SNP C C T TCGA-17-Z028-01A-01W-0746-08 TCGA-17-Z028-11A-01W-0746-08 g.chr4:152049490C>T c.1990G>A c.(1990-1992)Gaa>Aaa p.E664K LUAD 4 152069310 152069310 + Nonsense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 g.chr4:152069310G>A c.1006C>T c.(1006-1008)Caa>Taa p.Q336* LUAD 4 152070686 152070686 + Missense_Mutation SNP C C G TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 g.chr4:152070686C>G c.943G>C c.(943-945)Ggt>Cgt p.G315R LUAD 4 152086802 152086802 + Silent SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr4:152086802T>A c.741A>T c.(739-741)gcA>gcT p.A247A LUAD 4 152095909 152095909 + Missense_Mutation SNP T T C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 g.chr4:152095909T>C c.607A>G c.(607-609)Atc>Gtc p.I203V LUAD 4 152095961 152095961 + Silent SNP C C A TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr4:152095961C>A c.555G>T c.(553-555)ggG>ggT p.G185G LUAD 4 152096011 152096011 + Frame_Shift_Del DEL G G - TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 g.chr4:152096011delG c.505delC c.(505-507)cgafs p.R169fs LUSC 4 152054354 152054354 + Nonsense_Mutation SNP C C A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr4:152054354C>A c.1750G>T c.(1750-1752)Gga>Tga p.G584* LUSC 4 152058934 152058934 + Missense_Mutation SNP T T C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chr4:152058934T>C c.1606A>G c.(1606-1608)Aac>Gac p.N536D LUSC 4 152069115 152069115 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr4:152069115G>A c.1201C>T c.(1201-1203)Cct>Tct p.P401S LUSC 4 152095916 152095916 + Missense_Mutation SNP C C A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr4:152095916C>A c.600G>T c.(598-600)ttG>ttT p.L200F OV 4 152048856 152048856 + Missense_Mutation SNP T T G TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 g.chr4:152048856T>G c.2170A>C c.(2170-2172)Agt>Cgt p.S724R OV 4 152095977 152095977 + Missense_Mutation SNP T T A TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 g.chr4:152095977T>A c.539A>T c.(538-540)aAg>aTg p.K180M PAAD 4 152069321 152069321 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:152069321G>T c.995C>A c.(994-996)aCc>aAc p.T332N PAAD 4 152096417 152096417 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:152096417C>A c.99G>T c.(97-99)aaG>aaT p.K33N PRAD 4 152048836 152048836 + Silent SNP C C T TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 g.chr4:152048836C>T c.2190G>A c.(2188-2190)ccG>ccA p.P730P PRAD 4 152053535 152053535 + Splice_Site SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr4:152053535C>T c.1919G>A c.(1918-1920)aGc>aAc p.S640N PRAD 4 152058907 152058907 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:152058907G>A c.1633C>T c.(1633-1635)Cct>Tct p.P545S SKCM 4 152049406 152049406 + Missense_Mutation SNP C C T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 g.chr4:152049406C>T c.2074G>A c.(2074-2076)Gaa>Aaa p.E692K SKCM 4 152053487 152053487 + Missense_Mutation SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr4:152053487G>A c.1967C>T c.(1966-1968)tCt>tTt p.S656F SKCM 4 152053519 152053519 + Silent SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr4:152053519C>T c.1935G>A c.(1933-1935)ctG>ctA p.L645L SKCM 4 152054201 152054201 + Missense_Mutation SNP C C A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr4:152054201C>A c.1903G>T c.(1903-1905)Ggt>Tgt p.G635C SKCM 4 152054327 152054327 + Missense_Mutation SNP A A T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr4:152054327A>T c.1777T>A c.(1777-1779)Tca>Aca p.S593T SKCM 4 152058918 152058918 + Missense_Mutation SNP A A G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr4:152058918A>G c.1622T>C c.(1621-1623)aTt>aCt p.I541T SKCM 4 152069112 152069112 + Missense_Mutation SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr4:152069112G>A c.1204C>T c.(1204-1206)Cgt>Tgt p.R402C SKCM 4 152069133 152069133 + Nonsense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr4:152069133G>A c.1183C>T c.(1183-1185)Caa>Taa p.Q395* SKCM 4 152069194 152069194 + Silent SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr4:152069194C>T c.1122G>A c.(1120-1122)caG>caA p.Q374Q SKCM 4 152095957 152095957 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr4:152095957G>A c.559C>T c.(559-561)Cca>Tca p.P187S SKCM 4 152096067 152096067 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr4:152096067G>A c.449C>T c.(448-450)tCc>tTc p.S150F SKCM 4 152096098 152096098 + Missense_Mutation SNP G G A TCGA-ER-A1A1-06A-11D-A197-08 TCGA-ER-A1A1-10A-01D-A199-08 g.chr4:152096098G>A c.418C>T c.(418-420)Ccg>Tcg p.P140S SKCM 4 152096188 152096188 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr4:152096188C>T c.328G>A c.(328-330)Ggc>Agc p.G110S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 4 152065152 152065152 single base substitution C G exon_variant BLCA-US 4 152065152 152065152 single base substitution C G missense_variant E395D 1185G>C BLCA-US 4 152065152 152065152 single base substitution C G missense_variant E431D 1293G>C BLCA-US 4 152065152 152065152 single base substitution C G missense_variant E454D 1362G>C BLCA-US 4 152065413 152065413 single base substitution C T exon_variant BLCA-US 4 152065413 152065413 single base substitution C T intron_variant BLCA-US 4 152065413 152065413 single base substitution C T missense_variant E424K 1270G>A BLCA-US 4 152086849 152086849 single base substitution C T downstream_gene_variant BLCA-US 4 152086849 152086849 single base substitution C T exon_variant BLCA-US 4 152086849 152086849 single base substitution C T intron_variant BLCA-US 4 152086849 152086849 single base substitution C T splice_acceptor_variant BLCA-US 4 152096430 152096430 single base substitution G C downstream_gene_variant BLCA-US 4 152096430 152096430 single base substitution G C exon_variant BLCA-US 4 152096430 152096430 single base substitution G C stop_gained S29* 86C>G BLCA-US 4 152203350 152203350 single base substitution G A intron_variant BLCA-US 4 152204409 152204409 single base substitution G T intron_variant BOCA-FR 4 152050376 152050376 single base substitution T A intron_variant BOCA-FR 4 152056269 152056269 single base substitution C A downstream_gene_variant BOCA-FR 4 152056269 152056269 single base substitution C A exon_variant BOCA-FR 4 152056269 152056269 single base substitution C A stop_gained G499* 1495G>T BOCA-FR 4 152056269 152056269 single base substitution C A stop_gained G535* 1603G>T BOCA-FR 4 152056269 152056269 single base substitution C A stop_gained G558* 1672G>T BOCA-FR 4 152167509 152167509 single base substitution C A intron_variant BOCA-FR 4 152185969 152185969 single base substitution T A intron_variant BOCA-FR 4 152195139 152195139 single base substitution T C intron_variant BOCA-FR 4 152223470 152223470 single base substitution T C intron_variant BOCA-FR 4 152229644 152229644 single base substitution C T intron_variant BRCA-EU 4 152019216 152019216 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 152021168 152021168 single base substitution G A downstream_gene_variant BRCA-EU 4 152022645 152022645 single base substitution C T downstream_gene_variant BRCA-EU 4 152026376 152026376 deletion of <=200bp T - intron_variant BRCA-EU 4 152026376 152026376 insertion of <=200bp - T intron_variant BRCA-EU 4 152026396 152026396 deletion of <=200bp T - intron_variant BRCA-EU 4 152026542 152026542 deletion of <=200bp A - intron_variant BRCA-EU 4 152026688 152026688 deletion of <=200bp A - intron_variant BRCA-EU 4 152027984 152027984 single base substitution T G intron_variant BRCA-EU 4 152028018 152028018 single base substitution C A intron_variant BRCA-EU 4 152028047 152028047 single base substitution C T intron_variant BRCA-EU 4 152028877 152028877 single base substitution G C intron_variant BRCA-EU 4 152029285 152029285 single base substitution T C intron_variant BRCA-EU 4 152029791 152029791 single base substitution T A intron_variant BRCA-EU 4 152029854 152029854 single base substitution G A intron_variant BRCA-EU 4 152030471 152030471 single base substitution G A intron_variant BRCA-EU 4 152030493 152030493 single base substitution C T intron_variant BRCA-EU 4 152030907 152030907 single base substitution C T intron_variant BRCA-EU 4 152031650 152031650 single base substitution C T intron_variant BRCA-EU 4 152035005 152035005 single base substitution G A intron_variant BRCA-EU 4 152035008 152035008 single base substitution T G intron_variant BRCA-EU 4 152035010 152035010 single base substitution T A intron_variant BRCA-EU 4 152035555 152035555 single base substitution G A intron_variant BRCA-EU 4 152035668 152035668 single base substitution G A intron_variant BRCA-EU 4 152035830 152035830 single base substitution G A intron_variant BRCA-EU 4 152036140 152036140 single base substitution C T intron_variant BRCA-EU 4 152038780 152038780 single base substitution C G downstream_gene_variant BRCA-EU 4 152038780 152038780 single base substitution C G intron_variant BRCA-EU 4 152038876 152038876 single base substitution G A downstream_gene_variant BRCA-EU 4 152038876 152038876 single base substitution G A intron_variant BRCA-EU 4 152040319 152040319 single base substitution G A downstream_gene_variant BRCA-EU 4 152040319 152040319 single base substitution G A intron_variant BRCA-EU 4 152040878 152040878 single base substitution A T downstream_gene_variant BRCA-EU 4 152040878 152040878 single base substitution A T intron_variant BRCA-EU 4 152041205 152041205 insertion of <=200bp - A downstream_gene_variant BRCA-EU 4 152041205 152041205 insertion of <=200bp - A intron_variant BRCA-EU 4 152042411 152042411 single base substitution G A 3_prime_UTR_variant BRCA-EU 4 152042411 152042411 single base substitution G A downstream_gene_variant BRCA-EU 4 152042411 152042411 single base substitution G A exon_variant BRCA-EU 4 152042411 152042411 single base substitution G A upstream_gene_variant BRCA-EU 4 152043326 152043326 single base substitution C G exon_variant BRCA-EU 4 152043326 152043326 single base substitution C G missense_variant D705H 2113G>C BRCA-EU 4 152043326 152043326 single base substitution C G missense_variant D741H 2221G>C BRCA-EU 4 152043326 152043326 single base substitution C G missense_variant D764H 2290G>C BRCA-EU 4 152043326 152043326 single base substitution C G upstream_gene_variant BRCA-EU 4 152043355 152043355 single base substitution C A exon_variant BRCA-EU 4 152043355 152043355 single base substitution C A missense_variant G695V 2084G>T BRCA-EU 4 152043355 152043355 single base substitution C A missense_variant G731V 2192G>T BRCA-EU 4 152043355 152043355 single base substitution C A missense_variant G754V 2261G>T BRCA-EU 4 152043355 152043355 single base substitution C A upstream_gene_variant BRCA-EU 4 152045888 152045888 single base substitution T A intron_variant BRCA-EU 4 152045888 152045888 single base substitution T A upstream_gene_variant BRCA-EU 4 152046985 152046985 single base substitution C G intron_variant BRCA-EU 4 152047069 152047069 single base substitution A G intron_variant BRCA-EU 4 152048836 152048836 single base substitution C T exon_variant BRCA-EU 4 152048836 152048836 single base substitution C T synonymous_variant P671P 2013G>A BRCA-EU 4 152048836 152048836 single base substitution C T synonymous_variant P707P 2121G>A BRCA-EU 4 152048836 152048836 single base substitution C T synonymous_variant P730P 2190G>A BRCA-EU 4 152051417 152051417 single base substitution G C intron_variant BRCA-EU 4 152053209 152053209 single base substitution C T intron_variant BRCA-EU 4 152053424 152053424 single base substitution A T intron_variant BRCA-EU 4 152053946 152053946 single base substitution C A downstream_gene_variant BRCA-EU 4 152053946 152053946 single base substitution C A intron_variant BRCA-EU 4 152054722 152054722 single base substitution T A downstream_gene_variant BRCA-EU 4 152054722 152054722 single base substitution T A intron_variant BRCA-EU 4 152056459 152056459 deletion of <=200bp A - downstream_gene_variant BRCA-EU 4 152056459 152056459 deletion of <=200bp A - intron_variant BRCA-EU 4 152057918 152057918 single base substitution T C downstream_gene_variant BRCA-EU 4 152057918 152057918 single base substitution T C intron_variant BRCA-EU 4 152058426 152058426 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 152058426 152058426 deletion of <=200bp T - intron_variant BRCA-EU 4 152058805 152058805 single base substitution T C downstream_gene_variant BRCA-EU 4 152058805 152058805 single base substitution T C intron_variant BRCA-EU 4 152059698 152059698 single base substitution A T intron_variant BRCA-EU 4 152060354 152060354 single base substitution G A intron_variant BRCA-EU 4 152061355 152061355 single base substitution T G intron_variant BRCA-EU 4 152061503 152061503 single base substitution A T intron_variant BRCA-EU 4 152061504 152061504 single base substitution A T intron_variant BRCA-EU 4 152062319 152062319 single base substitution C G intron_variant BRCA-EU 4 152063998 152063998 single base substitution C T intron_variant BRCA-EU 4 152064371 152064371 single base substitution G C intron_variant BRCA-EU 4 152064405 152064405 deletion of <=200bp T - intron_variant BRCA-EU 4 152066482 152066482 single base substitution G A intron_variant BRCA-EU 4 152066482 152066482 single base substitution G A upstream_gene_variant BRCA-EU 4 152067340 152067340 single base substitution T C intron_variant BRCA-EU 4 152067340 152067340 single base substitution T C upstream_gene_variant BRCA-EU 4 152067560 152067560 single base substitution T G intron_variant BRCA-EU 4 152067560 152067560 single base substitution T G upstream_gene_variant BRCA-EU 4 152067675 152067677 deletion of <=200bp TTG - intron_variant BRCA-EU 4 152067675 152067677 deletion of <=200bp TTG - upstream_gene_variant BRCA-EU 4 152069041 152069041 single base substitution T C intron_variant BRCA-EU 4 152069041 152069041 single base substitution T C upstream_gene_variant BRCA-EU 4 152073662 152073662 single base substitution C G intron_variant BRCA-EU 4 152074919 152074919 single base substitution C G intron_variant BRCA-EU 4 152075144 152075144 single base substitution C T intron_variant BRCA-EU 4 152076007 152076007 single base substitution T G intron_variant BRCA-EU 4 152076118 152076118 single base substitution C A intron_variant BRCA-EU 4 152079003 152079003 single base substitution C G intron_variant BRCA-EU 4 152083697 152083697 single base substitution C T intron_variant BRCA-EU 4 152084409 152084409 single base substitution A C intron_variant BRCA-EU 4 152084864 152084864 single base substitution C G intron_variant BRCA-EU 4 152085400 152085400 single base substitution C T intron_variant BRCA-EU 4 152085743 152085743 single base substitution T C intron_variant BRCA-EU 4 152086598 152086598 single base substitution T A intron_variant BRCA-EU 4 152086840 152086840 single base substitution G A downstream_gene_variant BRCA-EU 4 152086840 152086840 single base substitution G A exon_variant BRCA-EU 4 152086840 152086840 single base substitution G A intron_variant BRCA-EU 4 152086840 152086840 single base substitution G A stop_gained Q235* 703C>T BRCA-EU 4 152087403 152087403 single base substitution A C downstream_gene_variant BRCA-EU 4 152087403 152087403 single base substitution A C exon_variant BRCA-EU 4 152087403 152087403 single base substitution A C intron_variant BRCA-EU 4 152089568 152089568 single base substitution G C downstream_gene_variant BRCA-EU 4 152089568 152089568 single base substitution G C intron_variant BRCA-EU 4 152089568 152089568 single base substitution G C upstream_gene_variant BRCA-EU 4 152090218 152090218 single base substitution C T downstream_gene_variant BRCA-EU 4 152090218 152090218 single base substitution C T intron_variant BRCA-EU 4 152090218 152090218 single base substitution C T upstream_gene_variant BRCA-EU 4 152090445 152090445 deletion of <=200bp A - downstream_gene_variant BRCA-EU 4 152090445 152090445 deletion of <=200bp A - intron_variant BRCA-EU 4 152090445 152090445 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 152090539 152090539 single base substitution C T downstream_gene_variant BRCA-EU 4 152090539 152090539 single base substitution C T intron_variant BRCA-EU 4 152090539 152090539 single base substitution C T upstream_gene_variant BRCA-EU 4 152090642 152090642 single base substitution A T downstream_gene_variant BRCA-EU 4 152090642 152090642 single base substitution A T intron_variant BRCA-EU 4 152090642 152090642 single base substitution A T upstream_gene_variant BRCA-EU 4 152091121 152091121 single base substitution C T downstream_gene_variant BRCA-EU 4 152091121 152091121 single base substitution C T intron_variant BRCA-EU 4 152091121 152091121 single base substitution C T upstream_gene_variant BRCA-EU 4 152100031 152100031 single base substitution C G intron_variant BRCA-EU 4 152100031 152100031 single base substitution C G upstream_gene_variant BRCA-EU 4 152103736 152103736 single base substitution C G intron_variant BRCA-EU 4 152106758 152106758 single base substitution C G intron_variant BRCA-EU 4 152108692 152108692 single base substitution C G intron_variant BRCA-EU 4 152109414 152109414 single base substitution T C intron_variant BRCA-EU 4 152112101 152112101 deletion of <=200bp T - intron_variant BRCA-EU 4 152112765 152112765 single base substitution G A intron_variant BRCA-EU 4 152115788 152115788 single base substitution G A intron_variant BRCA-EU 4 152116838 152116838 single base substitution C G intron_variant BRCA-EU 4 152117893 152117893 single base substitution C T intron_variant BRCA-EU 4 152118851 152118851 single base substitution A C intron_variant BRCA-EU 4 152118862 152118862 single base substitution C G intron_variant BRCA-EU 4 152118921 152118921 single base substitution G A intron_variant BRCA-EU 4 152119745 152119745 single base substitution C T intron_variant BRCA-EU 4 152120684 152120684 single base substitution G C intron_variant BRCA-EU 4 152121470 152121470 single base substitution C T intron_variant BRCA-EU 4 152121657 152121657 single base substitution C T intron_variant BRCA-EU 4 152122224 152122224 single base substitution A T intron_variant BRCA-EU 4 152125562 152125562 deletion of <=200bp A - intron_variant BRCA-EU 4 152126896 152126896 single base substitution C T intron_variant BRCA-EU 4 152128505 152128505 single base substitution C T intron_variant BRCA-EU 4 152128627 152128627 single base substitution C A intron_variant BRCA-EU 4 152128765 152128765 single base substitution C G intron_variant BRCA-EU 4 152128778 152128778 single base substitution C G intron_variant BRCA-EU 4 152128866 152128866 single base substitution A G intron_variant BRCA-EU 4 152129106 152129106 single base substitution C T intron_variant BRCA-EU 4 152129316 152129316 single base substitution C G intron_variant BRCA-EU 4 152132224 152132224 single base substitution A G intron_variant BRCA-EU 4 152132804 152132804 single base substitution A G intron_variant BRCA-EU 4 152134063 152134063 single base substitution T C intron_variant BRCA-EU 4 152136071 152136071 single base substitution C T intron_variant BRCA-EU 4 152136506 152136506 single base substitution C G intron_variant BRCA-EU 4 152136720 152136720 single base substitution C T intron_variant BRCA-EU 4 152136946 152136946 single base substitution G A intron_variant BRCA-EU 4 152137151 152137151 single base substitution T G intron_variant BRCA-EU 4 152141147 152141147 single base substitution C T intron_variant BRCA-EU 4 152141274 152141274 single base substitution C T intron_variant BRCA-EU 4 152141354 152141354 single base substitution A G intron_variant BRCA-EU 4 152143371 152143371 single base substitution C T intron_variant BRCA-EU 4 152146552 152146552 single base substitution G C intron_variant BRCA-EU 4 152147648 152147648 insertion of <=200bp - G 5_prime_UTR_variant BRCA-EU 4 152147648 152147648 insertion of <=200bp - G intron_variant BRCA-EU 4 152147648 152147648 insertion of <=200bp - G upstream_gene_variant BRCA-EU 4 152147875 152147875 single base substitution G C intron_variant BRCA-EU 4 152147875 152147875 single base substitution G C upstream_gene_variant BRCA-EU 4 152147995 152147995 single base substitution C G intron_variant BRCA-EU 4 152147995 152147995 single base substitution C G upstream_gene_variant BRCA-EU 4 152150437 152150437 single base substitution C A intron_variant BRCA-EU 4 152150437 152150437 single base substitution C A upstream_gene_variant BRCA-EU 4 152152580 152152580 single base substitution T G intron_variant BRCA-EU 4 152152580 152152580 single base substitution T G upstream_gene_variant BRCA-EU 4 152153602 152153602 single base substitution C T intron_variant BRCA-EU 4 152153602 152153602 single base substitution C T upstream_gene_variant BRCA-EU 4 152154045 152154045 single base substitution A C intron_variant BRCA-EU 4 152154045 152154045 single base substitution A C upstream_gene_variant BRCA-EU 4 152154623 152154623 single base substitution G A intron_variant BRCA-EU 4 152155205 152155205 deletion of <=200bp T - intron_variant BRCA-EU 4 152155387 152155387 single base substitution C G intron_variant BRCA-EU 4 152156355 152156355 single base substitution C A intron_variant BRCA-EU 4 152158096 152158096 single base substitution G A intron_variant BRCA-EU 4 152159414 152159414 single base substitution T G intron_variant BRCA-EU 4 152160714 152160714 single base substitution G A intron_variant BRCA-EU 4 152160928 152160928 single base substitution C G intron_variant BRCA-EU 4 152163857 152163857 single base substitution C T intron_variant BRCA-EU 4 152164861 152164861 single base substitution G T intron_variant BRCA-EU 4 152165387 152165387 deletion of <=200bp A - intron_variant BRCA-EU 4 152168517 152168517 single base substitution C G intron_variant BRCA-EU 4 152169169 152169169 single base substitution G A intron_variant BRCA-EU 4 152170926 152170926 single base substitution C T intron_variant BRCA-EU 4 152170964 152170964 single base substitution C G intron_variant BRCA-EU 4 152171039 152171039 single base substitution C A intron_variant BRCA-EU 4 152173784 152173784 single base substitution C A intron_variant BRCA-EU 4 152173790 152173790 single base substitution T A intron_variant BRCA-EU 4 152174132 152174132 single base substitution C T intron_variant BRCA-EU 4 152175206 152175206 single base substitution T C intron_variant BRCA-EU 4 152176056 152176056 single base substitution G A intron_variant BRCA-EU 4 152177612 152177612 single base substitution C T intron_variant BRCA-EU 4 152177673 152177673 single base substitution C T intron_variant BRCA-EU 4 152178633 152178633 single base substitution C A intron_variant BRCA-EU 4 152179114 152179114 single base substitution G A intron_variant BRCA-EU 4 152179390 152179390 single base substitution G C intron_variant BRCA-EU 4 152179698 152179698 single base substitution G A intron_variant BRCA-EU 4 152181040 152181040 single base substitution A G intron_variant BRCA-EU 4 152182652 152182652 single base substitution C A intron_variant BRCA-EU 4 152182884 152182884 deletion of <=200bp T - intron_variant BRCA-EU 4 152187714 152187714 single base substitution C A intron_variant BRCA-EU 4 152187714 152187714 single base substitution C A upstream_gene_variant BRCA-EU 4 152188507 152188507 single base substitution C T intron_variant BRCA-EU 4 152188507 152188507 single base substitution C T upstream_gene_variant BRCA-EU 4 152189230 152189230 single base substitution A G intron_variant BRCA-EU 4 152189230 152189230 single base substitution A G upstream_gene_variant BRCA-EU 4 152191205 152191205 single base substitution A C intron_variant BRCA-EU 4 152191205 152191205 single base substitution A C upstream_gene_variant BRCA-EU 4 152191225 152191225 single base substitution A T intron_variant BRCA-EU 4 152191225 152191225 single base substitution A T upstream_gene_variant BRCA-EU 4 152191548 152191548 single base substitution C T intron_variant BRCA-EU 4 152191548 152191548 single base substitution C T upstream_gene_variant BRCA-EU 4 152198382 152198382 single base substitution C T intron_variant BRCA-EU 4 152198815 152198815 single base substitution G A intron_variant BRCA-EU 4 152199905 152199905 single base substitution C T intron_variant BRCA-EU 4 152201024 152201024 single base substitution C T intron_variant BRCA-EU 4 152201396 152201396 single base substitution T C intron_variant BRCA-EU 4 152201961 152201961 deletion of <=200bp A - intron_variant BRCA-EU 4 152203682 152203682 single base substitution C T intron_variant BRCA-EU 4 152204130 152204130 single base substitution C T intron_variant BRCA-EU 4 152206648 152206648 single base substitution T C intron_variant BRCA-EU 4 152208247 152208247 single base substitution C G intron_variant BRCA-EU 4 152209133 152209133 single base substitution C T intron_variant BRCA-EU 4 152210003 152210003 single base substitution G T intron_variant BRCA-EU 4 152210497 152210497 single base substitution C T intron_variant BRCA-EU 4 152212271 152212271 single base substitution G T intron_variant BRCA-EU 4 152213451 152213451 single base substitution T A intron_variant BRCA-EU 4 152213452 152213452 single base substitution A T intron_variant BRCA-EU 4 152214828 152214828 single base substitution C G intron_variant BRCA-EU 4 152216073 152216073 single base substitution G C intron_variant BRCA-EU 4 152216581 152216581 single base substitution G A intron_variant BRCA-EU 4 152217769 152217769 single base substitution T C intron_variant BRCA-EU 4 152218746 152218746 single base substitution G A intron_variant BRCA-EU 4 152220020 152220020 single base substitution C T intron_variant BRCA-EU 4 152220044 152220044 single base substitution T C intron_variant BRCA-EU 4 152220134 152220134 single base substitution C T intron_variant BRCA-EU 4 152221055 152221055 single base substitution G C intron_variant BRCA-EU 4 152221492 152221492 single base substitution C T intron_variant BRCA-EU 4 152221633 152221633 deletion of <=200bp A - intron_variant BRCA-EU 4 152221757 152221757 single base substitution C A intron_variant BRCA-EU 4 152222397 152222397 single base substitution G C intron_variant BRCA-EU 4 152224857 152224857 single base substitution G A intron_variant BRCA-EU 4 152226855 152226855 single base substitution G C intron_variant BRCA-EU 4 152228598 152228598 single base substitution C T intron_variant BRCA-EU 4 152229785 152229785 single base substitution C T intron_variant BRCA-EU 4 152230083 152230083 single base substitution G A intron_variant BRCA-EU 4 152230354 152230354 single base substitution C T intron_variant BRCA-EU 4 152233201 152233201 deletion of <=200bp A - intron_variant BRCA-EU 4 152233740 152233740 single base substitution C T intron_variant BRCA-EU 4 152234861 152234861 single base substitution A T intron_variant BRCA-EU 4 152237281 152237281 single base substitution G C intron_variant BRCA-EU 4 152237351 152237351 single base substitution G T intron_variant BRCA-EU 4 152237752 152237752 deletion of <=200bp T - intron_variant BRCA-EU 4 152239000 152239000 single base substitution C T intron_variant BRCA-EU 4 152239234 152239234 single base substitution G A intron_variant BRCA-EU 4 152244700 152244700 insertion of <=200bp - C intron_variant BRCA-EU 4 152244916 152244916 single base substitution C T intron_variant BRCA-EU 4 152244952 152244952 single base substitution A G intron_variant BRCA-EU 4 152245311 152245311 single base substitution C T intron_variant BRCA-EU 4 152246516 152246516 single base substitution G A exon_variant BRCA-EU 4 152246880 152246880 single base substitution G C upstream_gene_variant BRCA-EU 4 152249214 152249214 single base substitution G T upstream_gene_variant BRCA-EU 4 152249935 152249935 single base substitution G A upstream_gene_variant BRCA-EU 4 152250657 152250657 single base substitution G A upstream_gene_variant BRCA-FR 4 152018934 152018934 single base substitution T A downstream_gene_variant BRCA-FR 4 152021168 152021168 single base substitution G A downstream_gene_variant BRCA-FR 4 152028018 152028018 single base substitution C A intron_variant BRCA-FR 4 152035555 152035555 single base substitution G A intron_variant BRCA-FR 4 152035668 152035668 single base substitution G A intron_variant BRCA-FR 4 152053424 152053424 single base substitution A T intron_variant BRCA-FR 4 152060685 152060685 single base substitution C T intron_variant BRCA-FR 4 152063998 152063998 single base substitution C T intron_variant BRCA-FR 4 152085400 152085400 single base substitution C T intron_variant BRCA-FR 4 152086840 152086840 single base substitution G A downstream_gene_variant BRCA-FR 4 152086840 152086840 single base substitution G A exon_variant BRCA-FR 4 152086840 152086840 single base substitution G A intron_variant BRCA-FR 4 152086840 152086840 single base substitution G A stop_gained Q235* 703C>T BRCA-FR 4 152094615 152094615 single base substitution C T downstream_gene_variant BRCA-FR 4 152094615 152094615 single base substitution C T intron_variant BRCA-FR 4 152106584 152106584 single base substitution A G intron_variant BRCA-FR 4 152107337 152107337 single base substitution G A intron_variant BRCA-FR 4 152108692 152108692 single base substitution C G intron_variant BRCA-FR 4 152112765 152112765 single base substitution G A intron_variant BRCA-FR 4 152114115 152114115 single base substitution T C intron_variant BRCA-FR 4 152116511 152116511 single base substitution G A intron_variant BRCA-FR 4 152116838 152116838 single base substitution C G intron_variant BRCA-FR 4 152118851 152118851 single base substitution A C intron_variant BRCA-FR 4 152120684 152120684 single base substitution G C intron_variant BRCA-FR 4 152129106 152129106 single base substitution C T intron_variant BRCA-FR 4 152135117 152135117 single base substitution T G intron_variant BRCA-FR 4 152141274 152141274 single base substitution C T intron_variant BRCA-FR 4 152145110 152145110 single base substitution C G intron_variant BRCA-FR 4 152147995 152147995 single base substitution C G intron_variant BRCA-FR 4 152147995 152147995 single base substitution C G upstream_gene_variant BRCA-FR 4 152170964 152170964 single base substitution C G intron_variant BRCA-FR 4 152172548 152172548 single base substitution C T intron_variant BRCA-FR 4 152198661 152198661 single base substitution G A intron_variant BRCA-FR 4 152198752 152198752 single base substitution G A intron_variant BRCA-FR 4 152201396 152201396 single base substitution T C intron_variant BRCA-FR 4 152221055 152221055 single base substitution G C intron_variant BRCA-FR 4 152222397 152222397 single base substitution G C intron_variant BRCA-FR 4 152237281 152237281 single base substitution G C intron_variant BRCA-FR 4 152237351 152237351 single base substitution G T intron_variant BRCA-FR 4 152238360 152238360 single base substitution C G intron_variant BRCA-FR 4 152244916 152244916 single base substitution C T intron_variant BRCA-UK 4 152022146 152022146 single base substitution C A downstream_gene_variant BRCA-UK 4 152091121 152091121 single base substitution C T downstream_gene_variant BRCA-UK 4 152091121 152091121 single base substitution C T intron_variant BRCA-UK 4 152091121 152091121 single base substitution C T upstream_gene_variant BRCA-UK 4 152112899 152112899 single base substitution G C intron_variant BRCA-UK 4 152181040 152181040 single base substitution A G intron_variant BRCA-UK 4 152187273 152187273 single base substitution G T exon_variant BRCA-UK 4 152187273 152187273 single base substitution G T intron_variant BRCA-UK 4 152207753 152207753 single base substitution A T intron_variant BRCA-UK 4 152240058 152240058 single base substitution C G intron_variant BRCA-US 4 152043323 152043323 single base substitution C A exon_variant BRCA-US 4 152043323 152043323 single base substitution C A missense_variant D706Y 2116G>T BRCA-US 4 152043323 152043323 single base substitution C A missense_variant D742Y 2224G>T BRCA-US 4 152043323 152043323 single base substitution C A missense_variant D765Y 2293G>T BRCA-US 4 152043323 152043323 single base substitution C A upstream_gene_variant BRCA-US 4 152054357 152054357 single base substitution T C downstream_gene_variant BRCA-US 4 152054357 152054357 single base substitution T C exon_variant BRCA-US 4 152054357 152054357 single base substitution T C missense_variant I524V 1570A>G BRCA-US 4 152054357 152054357 single base substitution T C missense_variant I560V 1678A>G BRCA-US 4 152054357 152054357 single base substitution T C missense_variant I583V 1747A>G BRCA-US 4 152056281 152056281 single base substitution C T downstream_gene_variant BRCA-US 4 152056281 152056281 single base substitution C T exon_variant BRCA-US 4 152056281 152056281 single base substitution C T missense_variant D495N 1483G>A BRCA-US 4 152056281 152056281 single base substitution C T missense_variant D531N 1591G>A BRCA-US 4 152056281 152056281 single base substitution C T missense_variant D554N 1660G>A BRCA-US 4 152080503 152080503 single base substitution A G splice_region_variant BRCA-US 4 152086824 152086824 single base substitution G A downstream_gene_variant BRCA-US 4 152086824 152086824 single base substitution G A exon_variant BRCA-US 4 152086824 152086824 single base substitution G A intron_variant BRCA-US 4 152086824 152086824 single base substitution G A missense_variant T240I 719C>T BRCA-US 4 152095845 152095845 single base substitution G T downstream_gene_variant BRCA-US 4 152095845 152095845 single base substitution G T exon_variant BRCA-US 4 152095845 152095845 single base substitution G T missense_variant S224Y 671C>A BRCA-US 4 152096472 152096472 single base substitution G T downstream_gene_variant BRCA-US 4 152096472 152096472 single base substitution G T missense_variant S15Y 44C>A BRCA-US 4 152096472 152096472 single base substitution G T upstream_gene_variant BTCA-JP 4 152024138 152024138 single base substitution A C exon_variant BTCA-JP 4 152024242 152024242 single base substitution C T exon_variant BTCA-JP 4 152024994 152024994 single base substitution A C intron_variant BTCA-JP 4 152049590 152049590 deletion of <=200bp A - intron_variant BTCA-JP 4 152054368 152054368 single base substitution C T downstream_gene_variant BTCA-JP 4 152054368 152054368 single base substitution C T exon_variant BTCA-JP 4 152054368 152054368 single base substitution C T missense_variant R520Q 1559G>A BTCA-JP 4 152054368 152054368 single base substitution C T missense_variant R556Q 1667G>A BTCA-JP 4 152054368 152054368 single base substitution C T missense_variant R579Q 1736G>A BTCA-JP 4 152061073 152061073 deletion of <=200bp T - intron_variant BTCA-JP 4 152065329 152065329 deletion of <=200bp T - exon_variant BTCA-JP 4 152065329 152065329 deletion of <=200bp T - intron_variant BTCA-JP 4 152069426 152069426 single base substitution C G intron_variant BTCA-JP 4 152069426 152069426 single base substitution C G upstream_gene_variant BTCA-JP 4 152069440 152069440 single base substitution C G intron_variant BTCA-JP 4 152069440 152069440 single base substitution C G upstream_gene_variant BTCA-JP 4 152096479 152096479 single base substitution T C downstream_gene_variant BTCA-JP 4 152096479 152096479 single base substitution T C missense_variant I13V 37A>G BTCA-JP 4 152096479 152096479 single base substitution T C upstream_gene_variant BTCA-JP 4 152096558 152096558 single base substitution C T 5_prime_UTR_variant BTCA-JP 4 152096558 152096558 single base substitution C T downstream_gene_variant BTCA-JP 4 152096558 152096558 single base substitution C T upstream_gene_variant BTCA-JP 4 152203664 152203664 single base substitution C G intron_variant BTCA-JP 4 152204460 152204460 insertion of <=200bp - T intron_variant CESC-US 4 152022192 152022192 single base substitution G A downstream_gene_variant CESC-US 4 152054300 152054300 single base substitution C G downstream_gene_variant CESC-US 4 152054300 152054300 single base substitution C G exon_variant CESC-US 4 152054300 152054300 single base substitution C G missense_variant E543Q 1627G>C CESC-US 4 152054300 152054300 single base substitution C G missense_variant E579Q 1735G>C CESC-US 4 152054300 152054300 single base substitution C G missense_variant E602Q 1804G>C CESC-US 4 152065075 152065075 single base substitution C G exon_variant CESC-US 4 152065075 152065075 single base substitution C G missense_variant R421T 1262G>C CESC-US 4 152065075 152065075 single base substitution C G missense_variant R457T 1370G>C CESC-US 4 152065075 152065075 single base substitution C G missense_variant R480T 1439G>C CESC-US 4 152198351 152198351 single base substitution G A intron_variant CLLE-ES 4 152019790 152019790 single base substitution C T downstream_gene_variant CLLE-ES 4 152040790 152040790 single base substitution A G downstream_gene_variant CLLE-ES 4 152040790 152040790 single base substitution A G intron_variant CLLE-ES 4 152040811 152040811 single base substitution A C downstream_gene_variant CLLE-ES 4 152040811 152040811 single base substitution A C intron_variant CLLE-ES 4 152051820 152051820 single base substitution G A intron_variant CLLE-ES 4 152073764 152073764 single base substitution G A intron_variant CLLE-ES 4 152116241 152116241 deletion of <=200bp G - intron_variant CLLE-ES 4 152118181 152118181 single base substitution A G intron_variant CLLE-ES 4 152132766 152132766 single base substitution G A intron_variant CLLE-ES 4 152141942 152141942 single base substitution A G intron_variant CLLE-ES 4 152147648 152147648 single base substitution G T 5_prime_UTR_variant CLLE-ES 4 152147648 152147648 single base substitution G T intron_variant CLLE-ES 4 152147648 152147648 single base substitution G T upstream_gene_variant CLLE-ES 4 152154899 152154899 single base substitution C T intron_variant CLLE-ES 4 152155108 152155108 single base substitution C T intron_variant CLLE-ES 4 152159759 152159759 single base substitution A G intron_variant CLLE-ES 4 152168559 152168559 single base substitution T C intron_variant CLLE-ES 4 152200832 152200832 single base substitution G A intron_variant CLLE-ES 4 152200977 152200977 single base substitution G A intron_variant CLLE-ES 4 152210488 152210488 single base substitution A G intron_variant CLLE-ES 4 152227668 152227668 single base substitution A G intron_variant CLLE-ES 4 152234479 152234479 single base substitution T C intron_variant CLLE-ES 4 152234481 152234481 single base substitution G T intron_variant CLLE-ES 4 152245215 152245215 single base substitution T C intron_variant COAD-US 4 152054200 152054200 single base substitution C A downstream_gene_variant COAD-US 4 152054200 152054200 single base substitution C A exon_variant COAD-US 4 152054200 152054200 single base substitution C A missense_variant G576V 1727G>T COAD-US 4 152054200 152054200 single base substitution C A missense_variant G612V 1835G>T COAD-US 4 152054200 152054200 single base substitution C A missense_variant G635V 1904G>T COAD-US 4 152054264 152054264 single base substitution G A downstream_gene_variant COAD-US 4 152054264 152054264 single base substitution G A exon_variant COAD-US 4 152054264 152054264 single base substitution G A stop_gained R555* 1663C>T COAD-US 4 152054264 152054264 single base substitution G A stop_gained R591* 1771C>T COAD-US 4 152054264 152054264 single base substitution G A stop_gained R614* 1840C>T COAD-US 4 152058914 152058914 single base substitution G A exon_variant COAD-US 4 152058914 152058914 single base substitution G A synonymous_variant G483G 1449C>T COAD-US 4 152058914 152058914 single base substitution G A synonymous_variant G519G 1557C>T COAD-US 4 152058914 152058914 single base substitution G A synonymous_variant G542G 1626C>T COAD-US 4 152065201 152065201 single base substitution C T exon_variant COAD-US 4 152065201 152065201 single base substitution C T missense_variant R379H 1136G>A COAD-US 4 152065201 152065201 single base substitution C T missense_variant R415H 1244G>A COAD-US 4 152065201 152065201 single base substitution C T missense_variant R438H 1313G>A COAD-US 4 152065201 152065201 single base substitution C T splice_region_variant COAD-US 4 152069331 152069331 single base substitution T C exon_variant COAD-US 4 152069331 152069331 single base substitution T C missense_variant N293D 877A>G COAD-US 4 152069331 152069331 single base substitution T C missense_variant N329D 985A>G COAD-US 4 152069331 152069331 single base substitution T C upstream_gene_variant COAD-US 4 152096479 152096479 single base substitution T A downstream_gene_variant COAD-US 4 152096479 152096479 single base substitution T A missense_variant I13F 37A>T COAD-US 4 152096479 152096479 single base substitution T A upstream_gene_variant COAD-US 4 152201007 152201007 single base substitution C T intron_variant COAD-US 4 152201053 152201053 single base substitution G A intron_variant COAD-US 4 152203551 152203551 single base substitution T A intron_variant COAD-US 4 152212394 152212394 deletion of <=200bp A - intron_variant COCA-CN 4 152020777 152020777 single base substitution C T downstream_gene_variant COCA-CN 4 152024120 152024120 single base substitution G A exon_variant COCA-CN 4 152024228 152024228 single base substitution A C exon_variant COCA-CN 4 152024929 152024929 single base substitution G T intron_variant COCA-CN 4 152038351 152038351 single base substitution G A downstream_gene_variant COCA-CN 4 152038351 152038351 single base substitution G A intron_variant COCA-CN 4 152049296 152049296 single base substitution G A intron_variant COCA-CN 4 152053592 152053592 single base substitution A G intron_variant COCA-CN 4 152054260 152054260 single base substitution C T downstream_gene_variant COCA-CN 4 152054260 152054260 single base substitution C T exon_variant COCA-CN 4 152054260 152054260 single base substitution C T missense_variant G556D 1667G>A COCA-CN 4 152054260 152054260 single base substitution C T missense_variant G592D 1775G>A COCA-CN 4 152054260 152054260 single base substitution C T missense_variant G615D 1844G>A COCA-CN 4 152056289 152056289 single base substitution C T downstream_gene_variant COCA-CN 4 152056289 152056289 single base substitution C T splice_region_variant COCA-CN 4 152057113 152057113 single base substitution C T downstream_gene_variant COCA-CN 4 152057113 152057113 single base substitution C T intron_variant COCA-CN 4 152061125 152061125 single base substitution A C intron_variant COCA-CN 4 152069139 152069139 single base substitution T C exon_variant COCA-CN 4 152069139 152069139 single base substitution T C missense_variant K357E 1069A>G COCA-CN 4 152069139 152069139 single base substitution T C missense_variant K393E 1177A>G COCA-CN 4 152069139 152069139 single base substitution T C upstream_gene_variant COCA-CN 4 152078411 152078411 single base substitution G A intron_variant COCA-CN 4 152082935 152082935 single base substitution T A intron_variant COCA-CN 4 152096006 152096006 single base substitution G A downstream_gene_variant COCA-CN 4 152096006 152096006 single base substitution G A exon_variant COCA-CN 4 152096006 152096006 single base substitution G A synonymous_variant L170L 510C>T COCA-CN 4 152096394 152096394 single base substitution G C downstream_gene_variant COCA-CN 4 152096394 152096394 single base substitution G C exon_variant COCA-CN 4 152096394 152096394 single base substitution G C stop_gained S41* 122C>G COCA-CN 4 152203303 152203303 single base substitution C A intron_variant COCA-CN 4 152204457 152204457 single base substitution G T intron_variant EOPC-DE 4 152125723 152125723 single base substitution A T intron_variant EOPC-DE 4 152125725 152125725 single base substitution A T intron_variant EOPC-DE 4 152223377 152223377 single base substitution G A intron_variant EOPC-DE 4 152245836 152245836 single base substitution T A intron_variant ESAD-UK 4 152028901 152028901 single base substitution T C intron_variant ESAD-UK 4 152030186 152030186 insertion of <=200bp - T intron_variant ESAD-UK 4 152031484 152031484 single base substitution G A intron_variant ESAD-UK 4 152031521 152031521 single base substitution G A intron_variant ESAD-UK 4 152033339 152033339 single base substitution A T intron_variant ESAD-UK 4 152033456 152033456 single base substitution G C intron_variant ESAD-UK 4 152033597 152033597 single base substitution G C intron_variant ESAD-UK 4 152036664 152036664 single base substitution C G downstream_gene_variant ESAD-UK 4 152036664 152036664 single base substitution C G intron_variant ESAD-UK 4 152036746 152036746 single base substitution T C downstream_gene_variant ESAD-UK 4 152036746 152036746 single base substitution T C intron_variant ESAD-UK 4 152037450 152037450 single base substitution T C downstream_gene_variant ESAD-UK 4 152037450 152037450 single base substitution T C intron_variant ESAD-UK 4 152037540 152037540 single base substitution C G downstream_gene_variant ESAD-UK 4 152037540 152037540 single base substitution C G intron_variant ESAD-UK 4 152038877 152038877 single base substitution C T downstream_gene_variant ESAD-UK 4 152038877 152038877 single base substitution C T intron_variant ESAD-UK 4 152041990 152041990 single base substitution C T 3_prime_UTR_variant ESAD-UK 4 152041990 152041990 single base substitution C T downstream_gene_variant ESAD-UK 4 152041990 152041990 single base substitution C T exon_variant ESAD-UK 4 152041990 152041990 single base substitution C T upstream_gene_variant ESAD-UK 4 152043004 152043004 single base substitution C T 3_prime_UTR_variant ESAD-UK 4 152043004 152043004 single base substitution C T exon_variant ESAD-UK 4 152043004 152043004 single base substitution C T upstream_gene_variant ESAD-UK 4 152043156 152043156 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 4 152043156 152043156 deletion of <=200bp A - exon_variant ESAD-UK 4 152043156 152043156 deletion of <=200bp A - upstream_gene_variant ESAD-UK 4 152045040 152045040 single base substitution G A intron_variant ESAD-UK 4 152045040 152045040 single base substitution G A upstream_gene_variant ESAD-UK 4 152047343 152047343 single base substitution T A intron_variant ESAD-UK 4 152048402 152048402 single base substitution C G intron_variant ESAD-UK 4 152048937 152048937 single base substitution A T intron_variant ESAD-UK 4 152050111 152050111 single base substitution T C intron_variant ESAD-UK 4 152051259 152051259 single base substitution C A intron_variant ESAD-UK 4 152052016 152052016 single base substitution C G intron_variant ESAD-UK 4 152052338 152052338 single base substitution T A intron_variant ESAD-UK 4 152053130 152053130 single base substitution C T intron_variant ESAD-UK 4 152054608 152054608 single base substitution T G downstream_gene_variant ESAD-UK 4 152054608 152054608 single base substitution T G intron_variant ESAD-UK 4 152056665 152056665 single base substitution G A downstream_gene_variant ESAD-UK 4 152056665 152056665 single base substitution G A intron_variant ESAD-UK 4 152057969 152057969 single base substitution G A downstream_gene_variant ESAD-UK 4 152057969 152057969 single base substitution G A intron_variant ESAD-UK 4 152059579 152059579 single base substitution G A intron_variant ESAD-UK 4 152061372 152061372 single base substitution G A intron_variant ESAD-UK 4 152064916 152064916 single base substitution C G intron_variant ESAD-UK 4 152067467 152067467 single base substitution A T intron_variant ESAD-UK 4 152067467 152067467 single base substitution A T upstream_gene_variant ESAD-UK 4 152068802 152068803 deletion of <=200bp AC - intron_variant ESAD-UK 4 152068802 152068803 deletion of <=200bp AC - upstream_gene_variant ESAD-UK 4 152071806 152071806 single base substitution G A intron_variant ESAD-UK 4 152071876 152071876 single base substitution T C intron_variant ESAD-UK 4 152072257 152072257 single base substitution C T intron_variant ESAD-UK 4 152074455 152074455 single base substitution A G intron_variant ESAD-UK 4 152074761 152074761 single base substitution A T intron_variant ESAD-UK 4 152077951 152077951 single base substitution A C intron_variant ESAD-UK 4 152078745 152078745 single base substitution T G intron_variant ESAD-UK 4 152081153 152081153 single base substitution T C intron_variant ESAD-UK 4 152089060 152089060 single base substitution G A downstream_gene_variant ESAD-UK 4 152089060 152089060 single base substitution G A intron_variant ESAD-UK 4 152089060 152089060 single base substitution G A upstream_gene_variant ESAD-UK 4 152090723 152090723 single base substitution C T downstream_gene_variant ESAD-UK 4 152090723 152090723 single base substitution C T intron_variant ESAD-UK 4 152090723 152090723 single base substitution C T upstream_gene_variant ESAD-UK 4 152091328 152091328 single base substitution A C downstream_gene_variant ESAD-UK 4 152091328 152091328 single base substitution A C intron_variant ESAD-UK 4 152091328 152091328 single base substitution A C upstream_gene_variant ESAD-UK 4 152094172 152094172 single base substitution T G downstream_gene_variant ESAD-UK 4 152094172 152094172 single base substitution T G intron_variant ESAD-UK 4 152096097 152096097 single base substitution G A downstream_gene_variant ESAD-UK 4 152096097 152096097 single base substitution G A exon_variant ESAD-UK 4 152096097 152096097 single base substitution G A missense_variant P140L 419C>T ESAD-UK 4 152096535 152096535 single base substitution G A 5_prime_UTR_variant ESAD-UK 4 152096535 152096535 single base substitution G A downstream_gene_variant ESAD-UK 4 152096535 152096535 single base substitution G A upstream_gene_variant ESAD-UK 4 152096911 152096911 single base substitution G A downstream_gene_variant ESAD-UK 4 152096911 152096911 single base substitution G A intron_variant ESAD-UK 4 152096911 152096911 single base substitution G A upstream_gene_variant ESAD-UK 4 152098425 152098425 single base substitution C G intron_variant ESAD-UK 4 152098425 152098425 single base substitution C G upstream_gene_variant ESAD-UK 4 152103956 152103956 single base substitution T A intron_variant ESAD-UK 4 152104675 152104675 single base substitution G T intron_variant ESAD-UK 4 152107149 152107149 single base substitution G A intron_variant ESAD-UK 4 152107192 152107192 insertion of <=200bp - G intron_variant ESAD-UK 4 152108596 152108596 single base substitution T C 5_prime_UTR_variant ESAD-UK 4 152108596 152108596 single base substitution T C exon_variant ESAD-UK 4 152111714 152111714 single base substitution G A intron_variant ESAD-UK 4 152111732 152111732 single base substitution C A intron_variant ESAD-UK 4 152112141 152112141 single base substitution C G intron_variant ESAD-UK 4 152113996 152113996 deletion of <=200bp A - intron_variant ESAD-UK 4 152114003 152114003 single base substitution A G intron_variant ESAD-UK 4 152114115 152114115 single base substitution T C intron_variant ESAD-UK 4 152115541 152115541 single base substitution A G intron_variant ESAD-UK 4 152115542 152115542 single base substitution G A intron_variant ESAD-UK 4 152115764 152115764 single base substitution C A intron_variant ESAD-UK 4 152116790 152116790 single base substitution G A intron_variant ESAD-UK 4 152117577 152117577 single base substitution T C intron_variant ESAD-UK 4 152129136 152129136 single base substitution G A intron_variant ESAD-UK 4 152133308 152133308 single base substitution A T intron_variant ESAD-UK 4 152134208 152134208 single base substitution G A intron_variant ESAD-UK 4 152140268 152140268 single base substitution A T intron_variant ESAD-UK 4 152143536 152143536 deletion of <=200bp T - intron_variant ESAD-UK 4 152148735 152148735 single base substitution G C intron_variant ESAD-UK 4 152148735 152148735 single base substitution G C upstream_gene_variant ESAD-UK 4 152152856 152152856 single base substitution A C intron_variant ESAD-UK 4 152152856 152152856 single base substitution A C upstream_gene_variant ESAD-UK 4 152153656 152153656 single base substitution A T intron_variant ESAD-UK 4 152153656 152153656 single base substitution A T upstream_gene_variant ESAD-UK 4 152156895 152156895 single base substitution G A intron_variant ESAD-UK 4 152156946 152156946 single base substitution A T intron_variant ESAD-UK 4 152157611 152157611 single base substitution G T intron_variant ESAD-UK 4 152159521 152159521 single base substitution A G intron_variant ESAD-UK 4 152161894 152161894 single base substitution G A intron_variant ESAD-UK 4 152162345 152162345 single base substitution G C intron_variant ESAD-UK 4 152173370 152173370 single base substitution C T intron_variant ESAD-UK 4 152173678 152173678 single base substitution G C intron_variant ESAD-UK 4 152175362 152175362 single base substitution T C intron_variant ESAD-UK 4 152176998 152176998 single base substitution G A intron_variant ESAD-UK 4 152177636 152177636 single base substitution C A intron_variant ESAD-UK 4 152186920 152186920 single base substitution G A intron_variant ESAD-UK 4 152188581 152188581 insertion of <=200bp - AC intron_variant ESAD-UK 4 152188581 152188581 insertion of <=200bp - AC upstream_gene_variant ESAD-UK 4 152195973 152195973 single base substitution G A intron_variant ESAD-UK 4 152200612 152200612 single base substitution G T intron_variant ESAD-UK 4 152207057 152207057 deletion of <=200bp A - intron_variant ESAD-UK 4 152209049 152209049 single base substitution A C intron_variant ESAD-UK 4 152209185 152209185 single base substitution G A intron_variant ESAD-UK 4 152209771 152209771 single base substitution A T intron_variant ESAD-UK 4 152210195 152210195 single base substitution G A intron_variant ESAD-UK 4 152216639 152216639 single base substitution G C intron_variant ESAD-UK 4 152234453 152234453 single base substitution G A intron_variant ESAD-UK 4 152234556 152234556 insertion of <=200bp - TATT intron_variant ESAD-UK 4 152235509 152235509 single base substitution A C intron_variant ESAD-UK 4 152237217 152237217 single base substitution C T intron_variant ESAD-UK 4 152237928 152237928 single base substitution C T intron_variant ESAD-UK 4 152247172 152247172 single base substitution T G upstream_gene_variant ESAD-UK 4 152248327 152248327 single base substitution G A upstream_gene_variant ESAD-UK 4 152248978 152248978 single base substitution C T upstream_gene_variant ESAD-UK 4 152250733 152250733 single base substitution T A upstream_gene_variant ESAD-UK 4 152250830 152250830 single base substitution C T upstream_gene_variant ESAD-UK 4 152251657 152251657 single base substitution T C upstream_gene_variant ESCA-CN 4 152054257 152054257 single base substitution C G downstream_gene_variant ESCA-CN 4 152054257 152054257 single base substitution C G exon_variant ESCA-CN 4 152054257 152054257 single base substitution C G missense_variant R557T 1670G>C ESCA-CN 4 152054257 152054257 single base substitution C G missense_variant R593T 1778G>C ESCA-CN 4 152054257 152054257 single base substitution C G missense_variant R616T 1847G>C ESCA-CN 4 152203393 152203393 single base substitution C T intron_variant GBM-US 4 152096196 152096196 single base substitution G C downstream_gene_variant GBM-US 4 152096196 152096196 single base substitution G C exon_variant GBM-US 4 152096196 152096196 single base substitution G C missense_variant P107R 320C>G GBM-US 4 152203364 152203364 single base substitution C T intron_variant KIRC-US 4 152025029 152025029 single base substitution C T intron_variant KIRC-US 4 152048840 152048840 single base substitution A T exon_variant KIRC-US 4 152048840 152048840 single base substitution A T missense_variant V670E 2009T>A KIRC-US 4 152048840 152048840 single base substitution A T missense_variant V706E 2117T>A KIRC-US 4 152048840 152048840 single base substitution A T missense_variant V729E 2186T>A KIRC-US 4 152201018 152201018 insertion of <=200bp - CAGGT intron_variant KIRC-US 4 152212274 152212274 single base substitution A G intron_variant KIRP-US 4 152096316 152096316 single base substitution T A downstream_gene_variant KIRP-US 4 152096316 152096316 single base substitution T A exon_variant KIRP-US 4 152096316 152096316 single base substitution T A missense_variant E67V 200A>T LAML-KR 4 152024138 152024138 single base substitution A C exon_variant LAML-KR 4 152030151 152030151 single base substitution A C intron_variant LAML-KR 4 152069090 152069090 single base substitution A G exon_variant LAML-KR 4 152069090 152069090 single base substitution A G missense_variant L373P 1118T>C LAML-KR 4 152069090 152069090 single base substitution A G missense_variant L409P 1226T>C LAML-KR 4 152069090 152069090 single base substitution A G upstream_gene_variant LAML-KR 4 152088976 152088976 single base substitution A G downstream_gene_variant LAML-KR 4 152088976 152088976 single base substitution A G intron_variant LAML-KR 4 152088976 152088976 single base substitution A G upstream_gene_variant LAML-KR 4 152088992 152088992 single base substitution A C downstream_gene_variant LAML-KR 4 152088992 152088992 single base substitution A C intron_variant LAML-KR 4 152088992 152088992 single base substitution A C upstream_gene_variant LAML-KR 4 152102113 152102113 single base substitution G T intron_variant LAML-KR 4 152102115 152102115 single base substitution T C intron_variant LAML-KR 4 152107740 152107740 single base substitution C T intron_variant LAML-KR 4 152107747 152107747 single base substitution A G intron_variant LAML-KR 4 152201053 152201053 single base substitution G A intron_variant LAML-KR 4 152201265 152201265 single base substitution A G intron_variant LAML-KR 4 152212486 152212486 single base substitution C T intron_variant LICA-FR 4 152020822 152020822 single base substitution C G downstream_gene_variant LICA-FR 4 152025434 152025434 single base substitution T C intron_variant LICA-FR 4 152029269 152029269 deletion of <=200bp T - intron_variant LICA-FR 4 152036316 152036316 single base substitution T A intron_variant LICA-FR 4 152040784 152040784 single base substitution G A downstream_gene_variant LICA-FR 4 152040784 152040784 single base substitution G A intron_variant LICA-FR 4 152059356 152059356 single base substitution T C intron_variant LICA-FR 4 152067848 152067848 single base substitution C T intron_variant LICA-FR 4 152067848 152067848 single base substitution C T upstream_gene_variant LICA-FR 4 152074370 152074370 single base substitution T C intron_variant LICA-FR 4 152080381 152080381 single base substitution T C intron_variant LICA-FR 4 152086804 152086804 single base substitution C T downstream_gene_variant LICA-FR 4 152086804 152086804 single base substitution C T exon_variant LICA-FR 4 152086804 152086804 single base substitution C T intron_variant LICA-FR 4 152086804 152086804 single base substitution C T missense_variant A247T 739G>A LICA-FR 4 152096005 152096005 single base substitution C A downstream_gene_variant LICA-FR 4 152096005 152096005 single base substitution C A exon_variant LICA-FR 4 152096005 152096005 single base substitution C A missense_variant A171S 511G>T LICA-FR 4 152096187 152096187 single base substitution C T downstream_gene_variant LICA-FR 4 152096187 152096187 single base substitution C T exon_variant LICA-FR 4 152096187 152096187 single base substitution C T missense_variant G110D 329G>A LICA-FR 4 152106444 152106444 single base substitution T C intron_variant LICA-FR 4 152109016 152109016 single base substitution G C intron_variant LICA-FR 4 152109444 152109444 single base substitution T C intron_variant LICA-FR 4 152155078 152155078 single base substitution T C intron_variant LICA-FR 4 152155868 152155868 single base substitution G T intron_variant LICA-FR 4 152155873 152155873 single base substitution C T intron_variant LICA-FR 4 152185598 152185598 single base substitution C A intron_variant LICA-FR 4 152200393 152200393 insertion of <=200bp - TT intron_variant LICA-FR 4 152212584 152212584 single base substitution A C intron_variant LICA-FR 4 152216214 152216214 single base substitution T G intron_variant LICA-FR 4 152238519 152238519 single base substitution G A intron_variant LIHC-US 4 152058972 152058972 single base substitution T A exon_variant LIHC-US 4 152058972 152058972 single base substitution T A missense_variant Y464F 1391A>T LIHC-US 4 152058972 152058972 single base substitution T A missense_variant Y500F 1499A>T LIHC-US 4 152058972 152058972 single base substitution T A missense_variant Y523F 1568A>T LIHC-US 4 152060939 152060939 single base substitution C T exon_variant LIHC-US 4 152060939 152060939 single base substitution C T missense_variant D446N 1336G>A LIHC-US 4 152060939 152060939 single base substitution C T missense_variant D482N 1444G>A LIHC-US 4 152060939 152060939 single base substitution C T missense_variant D505N 1513G>A LIHC-US 4 152080413 152080413 single base substitution A T exon_variant LIHC-US 4 152080413 152080413 single base substitution A T missense_variant N262K 786T>A LIHC-US 4 152080413 152080413 single base substitution A T missense_variant N298K 894T>A LINC-JP 4 152024178 152024178 single base substitution A T exon_variant LINC-JP 4 152024179 152024179 single base substitution A C exon_variant LINC-JP 4 152029155 152029155 single base substitution A C intron_variant LINC-JP 4 152033680 152033680 single base substitution A G intron_variant LINC-JP 4 152049199 152049199 single base substitution T C intron_variant LINC-JP 4 152057800 152057800 single base substitution T C downstream_gene_variant LINC-JP 4 152057800 152057800 single base substitution T C intron_variant LINC-JP 4 152061073 152061073 deletion of <=200bp T - intron_variant LINC-JP 4 152071004 152071004 single base substitution T C intron_variant LINC-JP 4 152075110 152075110 single base substitution T C intron_variant LINC-JP 4 152076741 152076741 deletion of <=200bp A - intron_variant LINC-JP 4 152077135 152077135 single base substitution T C intron_variant LINC-JP 4 152086146 152086146 single base substitution T C intron_variant LINC-JP 4 152097514 152097514 single base substitution T C downstream_gene_variant LINC-JP 4 152097514 152097514 single base substitution T C intron_variant LINC-JP 4 152097514 152097514 single base substitution T C upstream_gene_variant LINC-JP 4 152102099 152102099 single base substitution G T intron_variant LINC-JP 4 152110355 152110355 single base substitution T A intron_variant LINC-JP 4 152116642 152116642 single base substitution A G intron_variant LINC-JP 4 152124877 152124877 single base substitution T C intron_variant LINC-JP 4 152150350 152150350 insertion of <=200bp - A intron_variant LINC-JP 4 152150350 152150350 insertion of <=200bp - A upstream_gene_variant LINC-JP 4 152165381 152165381 single base substitution A C intron_variant LINC-JP 4 152165382 152165382 single base substitution T A intron_variant LINC-JP 4 152169287 152169287 single base substitution G T intron_variant LINC-JP 4 152169289 152169289 single base substitution T G intron_variant LINC-JP 4 152174642 152174642 single base substitution C T intron_variant LINC-JP 4 152182324 152182324 single base substitution A G intron_variant LINC-JP 4 152197223 152197223 single base substitution G A intron_variant LINC-JP 4 152200037 152200037 single base substitution A G intron_variant LINC-JP 4 152200912 152200912 single base substitution T C intron_variant LINC-JP 4 152201577 152201577 single base substitution T C intron_variant LINC-JP 4 152201578 152201578 single base substitution G A intron_variant LINC-JP 4 152207429 152207429 single base substitution A C intron_variant LINC-JP 4 152209080 152209080 single base substitution C A intron_variant LINC-JP 4 152209198 152209198 single base substitution G A intron_variant LINC-JP 4 152212400 152212400 single base substitution G T intron_variant LINC-JP 4 152214950 152214950 single base substitution C A intron_variant LINC-JP 4 152223884 152223884 single base substitution T C intron_variant LINC-JP 4 152249634 152249634 single base substitution A C upstream_gene_variant LIRI-JP 4 152020609 152020609 single base substitution C T downstream_gene_variant LIRI-JP 4 152021593 152021593 single base substitution A C downstream_gene_variant LIRI-JP 4 152021647 152021647 single base substitution T A downstream_gene_variant LIRI-JP 4 152021933 152021933 single base substitution A G downstream_gene_variant LIRI-JP 4 152021934 152021934 single base substitution A G downstream_gene_variant LIRI-JP 4 152022013 152022013 single base substitution A T downstream_gene_variant LIRI-JP 4 152023297 152023297 single base substitution G A downstream_gene_variant LIRI-JP 4 152023401 152023401 single base substitution A T downstream_gene_variant LIRI-JP 4 152024684 152024687 deletion of <=200bp TTTA - intron_variant LIRI-JP 4 152025794 152025794 single base substitution T C intron_variant LIRI-JP 4 152031368 152031368 single base substitution A C intron_variant LIRI-JP 4 152031406 152031406 single base substitution C G intron_variant LIRI-JP 4 152032404 152032404 single base substitution T C intron_variant LIRI-JP 4 152032701 152032701 single base substitution G T intron_variant LIRI-JP 4 152033862 152033862 single base substitution T C intron_variant LIRI-JP 4 152034302 152034302 single base substitution G A intron_variant LIRI-JP 4 152035572 152035572 single base substitution T G intron_variant LIRI-JP 4 152036910 152036910 single base substitution A T downstream_gene_variant LIRI-JP 4 152036910 152036910 single base substitution A T intron_variant LIRI-JP 4 152037312 152037313 deletion of <=200bp AC - downstream_gene_variant LIRI-JP 4 152037312 152037313 deletion of <=200bp AC - intron_variant LIRI-JP 4 152037656 152037656 single base substitution T C downstream_gene_variant LIRI-JP 4 152037656 152037656 single base substitution T C intron_variant LIRI-JP 4 152038005 152038005 single base substitution T C downstream_gene_variant LIRI-JP 4 152038005 152038005 single base substitution T C intron_variant LIRI-JP 4 152038190 152038190 single base substitution T C downstream_gene_variant LIRI-JP 4 152038190 152038190 single base substitution T C intron_variant LIRI-JP 4 152038685 152038685 single base substitution T G downstream_gene_variant LIRI-JP 4 152038685 152038685 single base substitution T G intron_variant LIRI-JP 4 152039819 152039819 single base substitution T C downstream_gene_variant LIRI-JP 4 152039819 152039819 single base substitution T C intron_variant LIRI-JP 4 152039908 152039908 single base substitution T A downstream_gene_variant LIRI-JP 4 152039908 152039908 single base substitution T A intron_variant LIRI-JP 4 152041913 152041913 single base substitution G A 3_prime_UTR_variant LIRI-JP 4 152041913 152041913 single base substitution G A downstream_gene_variant LIRI-JP 4 152041913 152041913 single base substitution G A exon_variant LIRI-JP 4 152042139 152042139 single base substitution T C 3_prime_UTR_variant LIRI-JP 4 152042139 152042139 single base substitution T C downstream_gene_variant LIRI-JP 4 152042139 152042139 single base substitution T C exon_variant LIRI-JP 4 152042139 152042139 single base substitution T C upstream_gene_variant LIRI-JP 4 152043982 152043982 single base substitution T C intron_variant LIRI-JP 4 152043982 152043982 single base substitution T C upstream_gene_variant LIRI-JP 4 152046227 152046227 single base substitution T C intron_variant LIRI-JP 4 152046227 152046227 single base substitution T C upstream_gene_variant LIRI-JP 4 152052147 152052147 single base substitution T C intron_variant LIRI-JP 4 152052478 152052478 single base substitution A G intron_variant LIRI-JP 4 152052490 152052490 single base substitution A G intron_variant LIRI-JP 4 152053002 152053002 single base substitution A T intron_variant LIRI-JP 4 152056687 152056687 single base substitution C A downstream_gene_variant LIRI-JP 4 152056687 152056687 single base substitution C A intron_variant LIRI-JP 4 152057355 152057355 single base substitution A T downstream_gene_variant LIRI-JP 4 152057355 152057355 single base substitution A T intron_variant LIRI-JP 4 152057770 152057775 deletion of <=200bp TTAAAC - downstream_gene_variant LIRI-JP 4 152057770 152057775 deletion of <=200bp TTAAAC - intron_variant LIRI-JP 4 152058998 152058998 single base substitution C A exon_variant LIRI-JP 4 152058998 152058998 single base substitution C A missense_variant L455F 1365G>T LIRI-JP 4 152058998 152058998 single base substitution C A missense_variant L491F 1473G>T LIRI-JP 4 152058998 152058998 single base substitution C A missense_variant L514F 1542G>T LIRI-JP 4 152059412 152059412 single base substitution G C intron_variant LIRI-JP 4 152060196 152060196 single base substitution T C intron_variant LIRI-JP 4 152060221 152060221 single base substitution T C intron_variant LIRI-JP 4 152062137 152062137 single base substitution T G intron_variant LIRI-JP 4 152062145 152062145 single base substitution T A intron_variant LIRI-JP 4 152066433 152066433 single base substitution G A intron_variant LIRI-JP 4 152066433 152066433 single base substitution G A upstream_gene_variant LIRI-JP 4 152067751 152067751 single base substitution C T intron_variant LIRI-JP 4 152067751 152067751 single base substitution C T upstream_gene_variant LIRI-JP 4 152071107 152071107 single base substitution G A intron_variant LIRI-JP 4 152072847 152072847 single base substitution T C intron_variant LIRI-JP 4 152073866 152073866 single base substitution T C intron_variant LIRI-JP 4 152074436 152074436 single base substitution G A intron_variant LIRI-JP 4 152076727 152076727 single base substitution C A intron_variant LIRI-JP 4 152078727 152078727 single base substitution A G intron_variant LIRI-JP 4 152079141 152079141 single base substitution G C intron_variant LIRI-JP 4 152084336 152084336 single base substitution T C intron_variant LIRI-JP 4 152086420 152086420 single base substitution G A intron_variant LIRI-JP 4 152087118 152087118 single base substitution G A downstream_gene_variant LIRI-JP 4 152087118 152087118 single base substitution G A exon_variant LIRI-JP 4 152087118 152087118 single base substitution G A intron_variant LIRI-JP 4 152088207 152088207 single base substitution T C downstream_gene_variant LIRI-JP 4 152088207 152088207 single base substitution T C intron_variant LIRI-JP 4 152088207 152088207 single base substitution T C upstream_gene_variant LIRI-JP 4 152088526 152088526 single base substitution T C downstream_gene_variant LIRI-JP 4 152088526 152088526 single base substitution T C intron_variant LIRI-JP 4 152088526 152088526 single base substitution T C upstream_gene_variant LIRI-JP 4 152089979 152089979 single base substitution G A downstream_gene_variant LIRI-JP 4 152089979 152089979 single base substitution G A intron_variant LIRI-JP 4 152089979 152089979 single base substitution G A upstream_gene_variant LIRI-JP 4 152091372 152091372 single base substitution T C downstream_gene_variant LIRI-JP 4 152091372 152091372 single base substitution T C intron_variant LIRI-JP 4 152091372 152091372 single base substitution T C upstream_gene_variant LIRI-JP 4 152091688 152091688 single base substitution A T downstream_gene_variant LIRI-JP 4 152091688 152091688 single base substitution A T exon_variant LIRI-JP 4 152091688 152091688 single base substitution A T intron_variant LIRI-JP 4 152091688 152091688 single base substitution A T upstream_gene_variant LIRI-JP 4 152097514 152097514 single base substitution T C downstream_gene_variant LIRI-JP 4 152097514 152097514 single base substitution T C intron_variant LIRI-JP 4 152097514 152097514 single base substitution T C upstream_gene_variant LIRI-JP 4 152099166 152099166 single base substitution G A intron_variant LIRI-JP 4 152099166 152099166 single base substitution G A upstream_gene_variant LIRI-JP 4 152100117 152100117 single base substitution C A intron_variant LIRI-JP 4 152100117 152100117 single base substitution C A upstream_gene_variant LIRI-JP 4 152100850 152100850 single base substitution T C intron_variant LIRI-JP 4 152100850 152100850 single base substitution T C upstream_gene_variant LIRI-JP 4 152102519 152102519 single base substitution T G intron_variant LIRI-JP 4 152104061 152104061 single base substitution T C intron_variant LIRI-JP 4 152105413 152105413 single base substitution G A intron_variant LIRI-JP 4 152106260 152106260 single base substitution T A intron_variant LIRI-JP 4 152106585 152106585 single base substitution G C intron_variant LIRI-JP 4 152110722 152110722 single base substitution G A intron_variant LIRI-JP 4 152114322 152114322 single base substitution T C intron_variant LIRI-JP 4 152114617 152114617 single base substitution G A intron_variant LIRI-JP 4 152117934 152117934 single base substitution A G intron_variant LIRI-JP 4 152118310 152118310 single base substitution T C intron_variant LIRI-JP 4 152118506 152118506 single base substitution C T intron_variant LIRI-JP 4 152118590 152118590 insertion of <=200bp - A intron_variant LIRI-JP 4 152118940 152118943 deletion of <=200bp AAAC - intron_variant LIRI-JP 4 152118980 152118983 deletion of <=200bp ATTA - intron_variant LIRI-JP 4 152124190 152124190 single base substitution C T intron_variant LIRI-JP 4 152128649 152128649 single base substitution T C intron_variant LIRI-JP 4 152130782 152130782 single base substitution A G intron_variant LIRI-JP 4 152133294 152133294 single base substitution T C intron_variant LIRI-JP 4 152133591 152133591 single base substitution G T intron_variant LIRI-JP 4 152137106 152137106 single base substitution G T intron_variant LIRI-JP 4 152137389 152137389 single base substitution A G intron_variant LIRI-JP 4 152138500 152138500 single base substitution T C intron_variant LIRI-JP 4 152138861 152138861 single base substitution C A intron_variant LIRI-JP 4 152138948 152138948 single base substitution T C intron_variant LIRI-JP 4 152140394 152140394 single base substitution T C intron_variant LIRI-JP 4 152142241 152142241 single base substitution T C intron_variant LIRI-JP 4 152144268 152144268 single base substitution A G intron_variant LIRI-JP 4 152145591 152145591 single base substitution T C intron_variant LIRI-JP 4 152146215 152146215 single base substitution T C intron_variant LIRI-JP 4 152146579 152146579 single base substitution G T intron_variant LIRI-JP 4 152147209 152147209 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 4 152147209 152147209 single base substitution G A exon_variant LIRI-JP 4 152147284 152147284 single base substitution C A intron_variant LIRI-JP 4 152147284 152147284 single base substitution C A upstream_gene_variant LIRI-JP 4 152149613 152149613 single base substitution A G intron_variant LIRI-JP 4 152149613 152149613 single base substitution A G upstream_gene_variant LIRI-JP 4 152153166 152153166 single base substitution T C intron_variant LIRI-JP 4 152153166 152153166 single base substitution T C upstream_gene_variant LIRI-JP 4 152154433 152154433 single base substitution T C intron_variant LIRI-JP 4 152162970 152162970 single base substitution T C intron_variant LIRI-JP 4 152164696 152164696 single base substitution T C intron_variant LIRI-JP 4 152165647 152165647 single base substitution C T intron_variant LIRI-JP 4 152167385 152167385 single base substitution T C intron_variant LIRI-JP 4 152167803 152167803 single base substitution T C intron_variant LIRI-JP 4 152167999 152167999 single base substitution T C intron_variant LIRI-JP 4 152171637 152171637 single base substitution T C intron_variant LIRI-JP 4 152171956 152171956 single base substitution T C intron_variant LIRI-JP 4 152174501 152174501 single base substitution C A intron_variant LIRI-JP 4 152182113 152182113 single base substitution T C intron_variant LIRI-JP 4 152182892 152182892 single base substitution T A intron_variant LIRI-JP 4 152183161 152183161 single base substitution T C intron_variant LIRI-JP 4 152184034 152184034 single base substitution C T intron_variant LIRI-JP 4 152193483 152193483 single base substitution A G intron_variant LIRI-JP 4 152193940 152193940 single base substitution T C intron_variant LIRI-JP 4 152196372 152196372 single base substitution G A intron_variant LIRI-JP 4 152198013 152198013 single base substitution G C intron_variant LIRI-JP 4 152198218 152198218 single base substitution G T intron_variant LIRI-JP 4 152202044 152202044 single base substitution A T intron_variant LIRI-JP 4 152202153 152202153 single base substitution C G intron_variant LIRI-JP 4 152202574 152202574 single base substitution T C intron_variant LIRI-JP 4 152203099 152203099 single base substitution C T intron_variant LIRI-JP 4 152204324 152204324 single base substitution G C intron_variant LIRI-JP 4 152211597 152211597 single base substitution G C intron_variant LIRI-JP 4 152212509 152212509 single base substitution T A intron_variant LIRI-JP 4 152213121 152213121 single base substitution T A intron_variant LIRI-JP 4 152216196 152216196 single base substitution G C intron_variant LIRI-JP 4 152216952 152216952 single base substitution G T intron_variant LIRI-JP 4 152221427 152221427 single base substitution G T intron_variant LIRI-JP 4 152221552 152221552 single base substitution T C intron_variant LIRI-JP 4 152222171 152222171 single base substitution C G intron_variant LIRI-JP 4 152224642 152224642 single base substitution T C intron_variant LIRI-JP 4 152226323 152226323 single base substitution T C intron_variant LIRI-JP 4 152226681 152226681 single base substitution T C intron_variant LIRI-JP 4 152227156 152227156 single base substitution T C intron_variant LIRI-JP 4 152228774 152228774 single base substitution T C intron_variant LIRI-JP 4 152230065 152230065 single base substitution G T intron_variant LIRI-JP 4 152232207 152232207 single base substitution G C intron_variant LIRI-JP 4 152232816 152232816 single base substitution C T intron_variant LIRI-JP 4 152232946 152232946 single base substitution T C intron_variant LIRI-JP 4 152233121 152233121 single base substitution C T intron_variant LIRI-JP 4 152234672 152234672 single base substitution G A intron_variant LIRI-JP 4 152234704 152234704 single base substitution G A intron_variant LIRI-JP 4 152235486 152235486 single base substitution C T intron_variant LIRI-JP 4 152235780 152235780 single base substitution T C intron_variant LIRI-JP 4 152236616 152236616 single base substitution T C intron_variant LIRI-JP 4 152237461 152237461 single base substitution T C intron_variant LIRI-JP 4 152241521 152241521 single base substitution A T intron_variant LIRI-JP 4 152242146 152242146 single base substitution T C intron_variant LIRI-JP 4 152242147 152242147 single base substitution T G intron_variant LIRI-JP 4 152242955 152242955 single base substitution C T intron_variant LIRI-JP 4 152244620 152244620 deletion of <=200bp A - intron_variant LIRI-JP 4 152245860 152245860 single base substitution C T intron_variant LIRI-JP 4 152248181 152248181 single base substitution A G upstream_gene_variant LIRI-JP 4 152248504 152248504 single base substitution A T upstream_gene_variant LIRI-JP 4 152250849 152250849 single base substitution A C upstream_gene_variant LIRI-JP 4 152251277 152251277 single base substitution G A upstream_gene_variant LIRI-JP 4 152251401 152251401 single base substitution A C upstream_gene_variant LUSC-KR 4 152025357 152025357 single base substitution G C intron_variant LUSC-KR 4 152026216 152026216 single base substitution G T intron_variant LUSC-KR 4 152033846 152033846 single base substitution T G intron_variant LUSC-KR 4 152037642 152037642 single base substitution T A downstream_gene_variant LUSC-KR 4 152037642 152037642 single base substitution T A intron_variant LUSC-KR 4 152041344 152041344 single base substitution G A downstream_gene_variant LUSC-KR 4 152041344 152041344 single base substitution G A intron_variant LUSC-KR 4 152041388 152041388 single base substitution G A downstream_gene_variant LUSC-KR 4 152041388 152041388 single base substitution G A intron_variant LUSC-KR 4 152053408 152053408 single base substitution G A intron_variant LUSC-KR 4 152053654 152053654 single base substitution G A intron_variant LUSC-KR 4 152079912 152079912 single base substitution C G intron_variant LUSC-KR 4 152091343 152091343 single base substitution G A downstream_gene_variant LUSC-KR 4 152091343 152091343 single base substitution G A intron_variant LUSC-KR 4 152091343 152091343 single base substitution G A upstream_gene_variant LUSC-KR 4 152099534 152099534 single base substitution C G intron_variant LUSC-KR 4 152099534 152099534 single base substitution C G upstream_gene_variant LUSC-KR 4 152106615 152106615 single base substitution T C intron_variant LUSC-KR 4 152113150 152113150 single base substitution G T intron_variant LUSC-KR 4 152121208 152121208 single base substitution T C intron_variant LUSC-KR 4 152124675 152124675 single base substitution C A intron_variant LUSC-KR 4 152133732 152133732 single base substitution G A intron_variant LUSC-KR 4 152135759 152135759 single base substitution C G intron_variant LUSC-KR 4 152135766 152135766 single base substitution G A intron_variant LUSC-KR 4 152135782 152135782 single base substitution G A intron_variant LUSC-KR 4 152135998 152135998 single base substitution C A intron_variant LUSC-KR 4 152143011 152143011 single base substitution A T intron_variant LUSC-KR 4 152143821 152143821 single base substitution T C intron_variant LUSC-KR 4 152152304 152152304 single base substitution C A intron_variant LUSC-KR 4 152152304 152152304 single base substitution C A upstream_gene_variant LUSC-KR 4 152153889 152153889 single base substitution C G intron_variant LUSC-KR 4 152153889 152153889 single base substitution C G upstream_gene_variant LUSC-KR 4 152154325 152154325 single base substitution A T intron_variant LUSC-KR 4 152154648 152154648 single base substitution G A intron_variant LUSC-KR 4 152157398 152157398 single base substitution C A intron_variant LUSC-KR 4 152157401 152157401 single base substitution G A intron_variant LUSC-KR 4 152158061 152158061 single base substitution G C intron_variant LUSC-KR 4 152168046 152168046 single base substitution C A intron_variant LUSC-KR 4 152168609 152168609 single base substitution C A intron_variant LUSC-KR 4 152170411 152170411 single base substitution T A intron_variant LUSC-KR 4 152175780 152175780 single base substitution A T intron_variant LUSC-KR 4 152177862 152177862 single base substitution G T intron_variant LUSC-KR 4 152182842 152182842 single base substitution C T intron_variant LUSC-KR 4 152185539 152185539 single base substitution C A intron_variant LUSC-KR 4 152186726 152186726 single base substitution T C intron_variant LUSC-KR 4 152189752 152189752 single base substitution C T intron_variant LUSC-KR 4 152189752 152189752 single base substitution C T upstream_gene_variant LUSC-KR 4 152189834 152189834 single base substitution T C intron_variant LUSC-KR 4 152189834 152189834 single base substitution T C upstream_gene_variant LUSC-KR 4 152191281 152191281 single base substitution T C intron_variant LUSC-KR 4 152191281 152191281 single base substitution T C upstream_gene_variant LUSC-KR 4 152193372 152193372 single base substitution C T intron_variant LUSC-KR 4 152195934 152195934 single base substitution T A intron_variant LUSC-KR 4 152197034 152197034 single base substitution G A intron_variant LUSC-KR 4 152197101 152197101 single base substitution T C intron_variant LUSC-KR 4 152198218 152198218 single base substitution G A intron_variant LUSC-KR 4 152200929 152200929 single base substitution C A intron_variant LUSC-KR 4 152204724 152204724 single base substitution C G intron_variant LUSC-KR 4 152212219 152212219 single base substitution C G intron_variant LUSC-KR 4 152223758 152223758 single base substitution G A intron_variant LUSC-KR 4 152225074 152225074 single base substitution C A intron_variant LUSC-KR 4 152225075 152225075 single base substitution C G intron_variant LUSC-KR 4 152226862 152226862 single base substitution C A intron_variant LUSC-KR 4 152231649 152231649 single base substitution C G intron_variant LUSC-KR 4 152234052 152234052 single base substitution C A intron_variant LUSC-KR 4 152235026 152235026 single base substitution T A intron_variant LUSC-KR 4 152238432 152238432 single base substitution T A intron_variant LUSC-KR 4 152242066 152242066 single base substitution C T intron_variant LUSC-KR 4 152247074 152247074 single base substitution G A upstream_gene_variant LUSC-US 4 152054354 152054354 single base substitution C A downstream_gene_variant LUSC-US 4 152054354 152054354 single base substitution C A exon_variant LUSC-US 4 152054354 152054354 single base substitution C A stop_gained G525* 1573G>T LUSC-US 4 152054354 152054354 single base substitution C A stop_gained G561* 1681G>T LUSC-US 4 152054354 152054354 single base substitution C A stop_gained G584* 1750G>T LUSC-US 4 152058934 152058934 single base substitution T C exon_variant LUSC-US 4 152058934 152058934 single base substitution T C missense_variant N477D 1429A>G LUSC-US 4 152058934 152058934 single base substitution T C missense_variant N513D 1537A>G LUSC-US 4 152058934 152058934 single base substitution T C missense_variant N536D 1606A>G LUSC-US 4 152069115 152069115 single base substitution G A exon_variant LUSC-US 4 152069115 152069115 single base substitution G A missense_variant P365S 1093C>T LUSC-US 4 152069115 152069115 single base substitution G A missense_variant P401S 1201C>T LUSC-US 4 152069115 152069115 single base substitution G A upstream_gene_variant LUSC-US 4 152095916 152095916 single base substitution C A downstream_gene_variant LUSC-US 4 152095916 152095916 single base substitution C A exon_variant LUSC-US 4 152095916 152095916 single base substitution C A missense_variant L200F 600G>T MALY-DE 4 152020854 152020854 single base substitution C T downstream_gene_variant MALY-DE 4 152021659 152021659 single base substitution G C downstream_gene_variant MALY-DE 4 152025513 152025513 insertion of <=200bp - T intron_variant MALY-DE 4 152042490 152042490 single base substitution A G 3_prime_UTR_variant MALY-DE 4 152042490 152042490 single base substitution A G downstream_gene_variant MALY-DE 4 152042490 152042490 single base substitution A G exon_variant MALY-DE 4 152042490 152042490 single base substitution A G upstream_gene_variant MALY-DE 4 152057139 152057139 insertion of <=200bp - AAAAC downstream_gene_variant MALY-DE 4 152057139 152057139 insertion of <=200bp - AAAAC intron_variant MALY-DE 4 152058333 152058333 insertion of <=200bp - T downstream_gene_variant MALY-DE 4 152058333 152058333 insertion of <=200bp - T intron_variant MALY-DE 4 152060089 152060089 single base substitution C T intron_variant MALY-DE 4 152060692 152060695 deletion of <=200bp TCTT - intron_variant MALY-DE 4 152066041 152066041 single base substitution T G intron_variant MALY-DE 4 152066041 152066041 single base substitution T G upstream_gene_variant MALY-DE 4 152070909 152070909 single base substitution T C intron_variant MALY-DE 4 152074759 152074759 single base substitution T A intron_variant MALY-DE 4 152077191 152077191 deletion of <=200bp A - intron_variant MALY-DE 4 152078827 152078827 single base substitution C T intron_variant MALY-DE 4 152093218 152093218 single base substitution C T downstream_gene_variant MALY-DE 4 152093218 152093218 single base substitution C T intron_variant MALY-DE 4 152096984 152096984 single base substitution G A downstream_gene_variant MALY-DE 4 152096984 152096984 single base substitution G A intron_variant MALY-DE 4 152096984 152096984 single base substitution G A upstream_gene_variant MALY-DE 4 152099358 152099358 single base substitution T G intron_variant MALY-DE 4 152099358 152099358 single base substitution T G upstream_gene_variant MALY-DE 4 152099380 152099380 single base substitution T G intron_variant MALY-DE 4 152099380 152099380 single base substitution T G upstream_gene_variant MALY-DE 4 152101087 152101087 single base substitution A C intron_variant MALY-DE 4 152101087 152101087 single base substitution A C upstream_gene_variant MALY-DE 4 152102261 152102261 single base substitution C T intron_variant MALY-DE 4 152103138 152103138 deletion of <=200bp T - intron_variant MALY-DE 4 152107588 152107588 insertion of <=200bp - T intron_variant MALY-DE 4 152112703 152112703 single base substitution T G intron_variant MALY-DE 4 152114115 152114115 single base substitution T C intron_variant MALY-DE 4 152115169 152115183 deletion of <=200bp TTTTTTTTTTTTTTT - intron_variant MALY-DE 4 152117453 152117453 single base substitution T A intron_variant MALY-DE 4 152121285 152121285 single base substitution G A intron_variant MALY-DE 4 152125723 152125723 single base substitution A T intron_variant MALY-DE 4 152125725 152125725 single base substitution A T intron_variant MALY-DE 4 152125838 152125838 single base substitution T A intron_variant MALY-DE 4 152129307 152129307 single base substitution C A intron_variant MALY-DE 4 152129531 152129531 deletion of <=200bp T - intron_variant MALY-DE 4 152131324 152131324 single base substitution T C intron_variant MALY-DE 4 152137951 152137951 single base substitution T C intron_variant MALY-DE 4 152138445 152138445 single base substitution G C intron_variant MALY-DE 4 152138645 152138645 single base substitution C T intron_variant MALY-DE 4 152139461 152139461 single base substitution A G intron_variant MALY-DE 4 152143732 152143732 single base substitution T A intron_variant MALY-DE 4 152148529 152148529 single base substitution T C intron_variant MALY-DE 4 152148529 152148529 single base substitution T C upstream_gene_variant MALY-DE 4 152155747 152155747 single base substitution T G intron_variant MALY-DE 4 152157461 152157461 single base substitution G A intron_variant MALY-DE 4 152159914 152159914 deletion of <=200bp A - intron_variant MALY-DE 4 152165352 152165352 insertion of <=200bp - AAC intron_variant MALY-DE 4 152167225 152167225 single base substitution A T intron_variant MALY-DE 4 152169859 152169859 single base substitution A C intron_variant MALY-DE 4 152169961 152169970 deletion of <=200bp AAACAAAACA - intron_variant MALY-DE 4 152170051 152170051 deletion of <=200bp T - intron_variant MALY-DE 4 152170464 152170464 deletion of <=200bp T - intron_variant MALY-DE 4 152180905 152180905 single base substitution A T intron_variant MALY-DE 4 152182732 152182732 single base substitution C T intron_variant MALY-DE 4 152186914 152186914 single base substitution A G intron_variant MALY-DE 4 152188419 152188419 single base substitution C G intron_variant MALY-DE 4 152188419 152188419 single base substitution C G upstream_gene_variant MALY-DE 4 152192763 152192763 single base substitution G T intron_variant MALY-DE 4 152196459 152196459 single base substitution T C intron_variant MALY-DE 4 152199670 152199670 single base substitution A G intron_variant MALY-DE 4 152204057 152204057 insertion of <=200bp - A intron_variant MALY-DE 4 152215584 152215584 insertion of <=200bp - A intron_variant MALY-DE 4 152223463 152223463 single base substitution G C intron_variant MALY-DE 4 152225359 152225359 single base substitution G T intron_variant MALY-DE 4 152226066 152226066 single base substitution A G intron_variant MALY-DE 4 152228881 152228881 single base substitution G A intron_variant MALY-DE 4 152229487 152229487 single base substitution G T intron_variant MALY-DE 4 152230083 152230083 single base substitution G A intron_variant MALY-DE 4 152236395 152236395 single base substitution C T intron_variant MALY-DE 4 152236955 152236955 single base substitution C T intron_variant MALY-DE 4 152237590 152237590 single base substitution A G intron_variant MALY-DE 4 152240370 152240370 single base substitution T C intron_variant MALY-DE 4 152242796 152242796 single base substitution T C intron_variant MALY-DE 4 152245783 152245783 single base substitution A C intron_variant MALY-DE 4 152248458 152248458 single base substitution T G upstream_gene_variant MALY-DE 4 152249480 152249480 single base substitution A G upstream_gene_variant MALY-DE 4 152250718 152250718 single base substitution T G upstream_gene_variant MELA-AU 4 152019065 152019065 single base substitution A C downstream_gene_variant MELA-AU 4 152019436 152019436 single base substitution G A downstream_gene_variant MELA-AU 4 152019491 152019491 single base substitution G A downstream_gene_variant MELA-AU 4 152020314 152020314 single base substitution T A downstream_gene_variant MELA-AU 4 152020456 152020456 single base substitution G A downstream_gene_variant MELA-AU 4 152020700 152020700 single base substitution G A downstream_gene_variant MELA-AU 4 152020703 152020703 single base substitution G A downstream_gene_variant MELA-AU 4 152020738 152020738 single base substitution C T downstream_gene_variant MELA-AU 4 152020777 152020777 single base substitution C T downstream_gene_variant MELA-AU 4 152022118 152022118 single base substitution C T downstream_gene_variant MELA-AU 4 152022484 152022484 single base substitution C T downstream_gene_variant MELA-AU 4 152024907 152024907 insertion of <=200bp - TA intron_variant MELA-AU 4 152025384 152025384 single base substitution C T intron_variant MELA-AU 4 152027141 152027141 single base substitution C T intron_variant MELA-AU 4 152027338 152027338 single base substitution C T intron_variant MELA-AU 4 152027582 152027582 single base substitution C T intron_variant MELA-AU 4 152027616 152027616 single base substitution C T intron_variant MELA-AU 4 152028921 152028921 single base substitution A G intron_variant MELA-AU 4 152029269 152029269 single base substitution T C intron_variant MELA-AU 4 152029371 152029371 single base substitution T A intron_variant MELA-AU 4 152030139 152030139 single base substitution C T intron_variant MELA-AU 4 152030601 152030601 single base substitution G A intron_variant MELA-AU 4 152031524 152031525 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 152033542 152033542 single base substitution T G intron_variant MELA-AU 4 152033653 152033653 single base substitution G A intron_variant MELA-AU 4 152033926 152033926 single base substitution C T intron_variant MELA-AU 4 152035334 152035334 single base substitution G A intron_variant MELA-AU 4 152036930 152036930 single base substitution C T downstream_gene_variant MELA-AU 4 152036930 152036930 single base substitution C T intron_variant MELA-AU 4 152037278 152037278 single base substitution T A downstream_gene_variant MELA-AU 4 152037278 152037278 single base substitution T A intron_variant MELA-AU 4 152037524 152037524 single base substitution T G downstream_gene_variant MELA-AU 4 152037524 152037524 single base substitution T G intron_variant MELA-AU 4 152037569 152037569 single base substitution A G downstream_gene_variant MELA-AU 4 152037569 152037569 single base substitution A G intron_variant MELA-AU 4 152037936 152037936 single base substitution C A downstream_gene_variant MELA-AU 4 152037936 152037936 single base substitution C A intron_variant MELA-AU 4 152038053 152038053 single base substitution G T downstream_gene_variant MELA-AU 4 152038053 152038053 single base substitution G T intron_variant MELA-AU 4 152041962 152041962 single base substitution C T 3_prime_UTR_variant MELA-AU 4 152041962 152041962 single base substitution C T downstream_gene_variant MELA-AU 4 152041962 152041962 single base substitution C T exon_variant MELA-AU 4 152042033 152042033 single base substitution C T 3_prime_UTR_variant MELA-AU 4 152042033 152042033 single base substitution C T downstream_gene_variant MELA-AU 4 152042033 152042033 single base substitution C T exon_variant MELA-AU 4 152042033 152042033 single base substitution C T upstream_gene_variant MELA-AU 4 152042311 152042311 single base substitution T A 3_prime_UTR_variant MELA-AU 4 152042311 152042311 single base substitution T A downstream_gene_variant MELA-AU 4 152042311 152042311 single base substitution T A exon_variant MELA-AU 4 152042311 152042311 single base substitution T A upstream_gene_variant MELA-AU 4 152042366 152042366 single base substitution A G 3_prime_UTR_variant MELA-AU 4 152042366 152042366 single base substitution A G downstream_gene_variant MELA-AU 4 152042366 152042366 single base substitution A G exon_variant MELA-AU 4 152042366 152042366 single base substitution A G upstream_gene_variant MELA-AU 4 152042442 152042442 single base substitution G A 3_prime_UTR_variant MELA-AU 4 152042442 152042442 single base substitution G A downstream_gene_variant MELA-AU 4 152042442 152042442 single base substitution G A exon_variant MELA-AU 4 152042442 152042442 single base substitution G A upstream_gene_variant MELA-AU 4 152043768 152043768 single base substitution G A intron_variant MELA-AU 4 152043768 152043768 single base substitution G A upstream_gene_variant MELA-AU 4 152043832 152043832 single base substitution G A intron_variant MELA-AU 4 152043832 152043832 single base substitution G A upstream_gene_variant MELA-AU 4 152043910 152043910 single base substitution C T intron_variant MELA-AU 4 152043910 152043910 single base substitution C T upstream_gene_variant MELA-AU 4 152044613 152044613 single base substitution C T intron_variant MELA-AU 4 152044613 152044613 single base substitution C T upstream_gene_variant MELA-AU 4 152045864 152045864 single base substitution A T intron_variant MELA-AU 4 152045864 152045864 single base substitution A T upstream_gene_variant MELA-AU 4 152046160 152046160 single base substitution G A intron_variant MELA-AU 4 152046160 152046160 single base substitution G A upstream_gene_variant MELA-AU 4 152046676 152046676 single base substitution G A intron_variant MELA-AU 4 152046676 152046676 single base substitution G A upstream_gene_variant MELA-AU 4 152047228 152047228 single base substitution G A intron_variant MELA-AU 4 152048578 152048578 single base substitution G A intron_variant MELA-AU 4 152048649 152048649 single base substitution C T intron_variant MELA-AU 4 152048937 152048937 single base substitution A T intron_variant MELA-AU 4 152049348 152049348 single base substitution G A exon_variant MELA-AU 4 152049348 152049348 single base substitution G A missense_variant P652L 1955C>T MELA-AU 4 152049348 152049348 single base substitution G A missense_variant P688L 2063C>T MELA-AU 4 152049348 152049348 single base substitution G A missense_variant P711L 2132C>T MELA-AU 4 152049927 152049927 single base substitution G A intron_variant MELA-AU 4 152050493 152050493 single base substitution G A intron_variant MELA-AU 4 152050712 152050712 single base substitution G A intron_variant MELA-AU 4 152051314 152051314 single base substitution C T intron_variant MELA-AU 4 152051435 152051435 single base substitution T G intron_variant MELA-AU 4 152052638 152052639 deletion of <=200bp TC - intron_variant MELA-AU 4 152053055 152053055 single base substitution C A intron_variant MELA-AU 4 152054320 152054320 single base substitution C T downstream_gene_variant MELA-AU 4 152054320 152054320 single base substitution C T exon_variant MELA-AU 4 152054320 152054320 single base substitution C T missense_variant G536E 1607G>A MELA-AU 4 152054320 152054320 single base substitution C T missense_variant G572E 1715G>A MELA-AU 4 152054320 152054320 single base substitution C T missense_variant G595E 1784G>A MELA-AU 4 152054435 152054435 single base substitution A G downstream_gene_variant MELA-AU 4 152054435 152054435 single base substitution A G intron_variant MELA-AU 4 152054601 152054601 single base substitution C T downstream_gene_variant MELA-AU 4 152054601 152054601 single base substitution C T intron_variant MELA-AU 4 152055108 152055108 single base substitution G A downstream_gene_variant MELA-AU 4 152055108 152055108 single base substitution G A intron_variant MELA-AU 4 152055243 152055243 single base substitution C T downstream_gene_variant MELA-AU 4 152055243 152055243 single base substitution C T intron_variant MELA-AU 4 152055875 152055875 single base substitution T G downstream_gene_variant MELA-AU 4 152055875 152055875 single base substitution T G intron_variant MELA-AU 4 152056375 152056375 single base substitution G A downstream_gene_variant MELA-AU 4 152056375 152056375 single base substitution G A intron_variant MELA-AU 4 152056925 152056925 single base substitution G A downstream_gene_variant MELA-AU 4 152056925 152056925 single base substitution G A intron_variant MELA-AU 4 152059986 152059986 single base substitution G T intron_variant MELA-AU 4 152060858 152060858 single base substitution A G intron_variant MELA-AU 4 152060870 152060870 single base substitution G A intron_variant MELA-AU 4 152060942 152060942 single base substitution G A exon_variant MELA-AU 4 152060942 152060942 single base substitution G A missense_variant H445Y 1333C>T MELA-AU 4 152060942 152060942 single base substitution G A missense_variant H481Y 1441C>T MELA-AU 4 152060942 152060942 single base substitution G A missense_variant H504Y 1510C>T MELA-AU 4 152062095 152062095 single base substitution A G intron_variant MELA-AU 4 152062374 152062374 single base substitution G A intron_variant MELA-AU 4 152062476 152062476 single base substitution C T intron_variant MELA-AU 4 152062691 152062691 single base substitution G A intron_variant MELA-AU 4 152062741 152062741 single base substitution G A intron_variant MELA-AU 4 152062854 152062854 single base substitution T C intron_variant MELA-AU 4 152062892 152062892 single base substitution G A intron_variant MELA-AU 4 152063068 152063068 single base substitution C A intron_variant MELA-AU 4 152064543 152064543 single base substitution G A intron_variant MELA-AU 4 152065258 152065258 single base substitution C T exon_variant MELA-AU 4 152065258 152065258 single base substitution C T intron_variant MELA-AU 4 152065353 152065353 single base substitution G A exon_variant MELA-AU 4 152065353 152065353 single base substitution G A intron_variant MELA-AU 4 152065500 152065500 single base substitution G A exon_variant MELA-AU 4 152065500 152065500 single base substitution G A intron_variant MELA-AU 4 152065588 152065588 single base substitution G A intron_variant MELA-AU 4 152065588 152065588 single base substitution G A upstream_gene_variant MELA-AU 4 152066013 152066013 single base substitution G A intron_variant MELA-AU 4 152066013 152066013 single base substitution G A upstream_gene_variant MELA-AU 4 152067318 152067318 single base substitution G A intron_variant MELA-AU 4 152067318 152067318 single base substitution G A upstream_gene_variant MELA-AU 4 152067418 152067418 single base substitution G A intron_variant MELA-AU 4 152067418 152067418 single base substitution G A upstream_gene_variant MELA-AU 4 152067809 152067809 single base substitution G A intron_variant MELA-AU 4 152067809 152067809 single base substitution G A upstream_gene_variant MELA-AU 4 152068166 152068166 single base substitution T A intron_variant MELA-AU 4 152068166 152068166 single base substitution T A upstream_gene_variant MELA-AU 4 152068258 152068258 single base substitution G A intron_variant MELA-AU 4 152068258 152068258 single base substitution G A upstream_gene_variant MELA-AU 4 152068425 152068425 single base substitution A G intron_variant MELA-AU 4 152068425 152068425 single base substitution A G upstream_gene_variant MELA-AU 4 152068457 152068457 single base substitution C A intron_variant MELA-AU 4 152068457 152068457 single base substitution C A upstream_gene_variant MELA-AU 4 152068984 152068984 single base substitution T C intron_variant MELA-AU 4 152068984 152068984 single base substitution T C upstream_gene_variant MELA-AU 4 152069542 152069542 single base substitution G A intron_variant MELA-AU 4 152069542 152069542 single base substitution G A upstream_gene_variant MELA-AU 4 152070532 152070532 single base substitution G A intron_variant MELA-AU 4 152070532 152070532 single base substitution G A upstream_gene_variant MELA-AU 4 152070667 152070668 multiple base substitution (>=2bp and <=200bp) GG AT exon_variant MELA-AU 4 152070667 152070668 multiple base substitution (>=2bp and <=200bp) GG AT missense_variant P285I 853CC>AT MELA-AU 4 152070667 152070668 multiple base substitution (>=2bp and <=200bp) GG AT missense_variant P321I 961CC>AT MELA-AU 4 152070772 152070772 single base substitution G A intron_variant MELA-AU 4 152071256 152071256 single base substitution G A intron_variant MELA-AU 4 152072365 152072365 single base substitution G A intron_variant MELA-AU 4 152074289 152074289 single base substitution A C intron_variant MELA-AU 4 152075103 152075103 single base substitution A C intron_variant MELA-AU 4 152075248 152075249 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 4 152075307 152075307 single base substitution G A intron_variant MELA-AU 4 152075408 152075408 single base substitution C T intron_variant MELA-AU 4 152075514 152075514 single base substitution G A intron_variant MELA-AU 4 152076052 152076052 single base substitution G A intron_variant MELA-AU 4 152076386 152076386 single base substitution G A intron_variant MELA-AU 4 152077345 152077345 single base substitution G A intron_variant MELA-AU 4 152077866 152077866 single base substitution G A intron_variant MELA-AU 4 152077878 152077878 single base substitution G A intron_variant MELA-AU 4 152079395 152079395 single base substitution G A intron_variant MELA-AU 4 152079672 152079672 single base substitution G A intron_variant MELA-AU 4 152081175 152081175 single base substitution T A intron_variant MELA-AU 4 152082206 152082206 single base substitution G A intron_variant MELA-AU 4 152082217 152082217 single base substitution G A intron_variant MELA-AU 4 152083475 152083475 single base substitution G A intron_variant MELA-AU 4 152083563 152083563 single base substitution G A intron_variant MELA-AU 4 152084350 152084350 single base substitution C T intron_variant MELA-AU 4 152084575 152084575 single base substitution A T intron_variant MELA-AU 4 152086189 152086189 single base substitution C T intron_variant MELA-AU 4 152086273 152086273 single base substitution A G intron_variant MELA-AU 4 152086313 152086313 single base substitution G A intron_variant MELA-AU 4 152086507 152086507 single base substitution G A intron_variant MELA-AU 4 152087015 152087015 single base substitution G A downstream_gene_variant MELA-AU 4 152087015 152087015 single base substitution G A exon_variant MELA-AU 4 152087015 152087015 single base substitution G A intron_variant MELA-AU 4 152088156 152088156 single base substitution C T downstream_gene_variant MELA-AU 4 152088156 152088156 single base substitution C T intron_variant MELA-AU 4 152088156 152088156 single base substitution C T upstream_gene_variant MELA-AU 4 152088830 152088830 single base substitution C T downstream_gene_variant MELA-AU 4 152088830 152088830 single base substitution C T intron_variant MELA-AU 4 152088830 152088830 single base substitution C T upstream_gene_variant MELA-AU 4 152088836 152088836 single base substitution G A downstream_gene_variant MELA-AU 4 152088836 152088836 single base substitution G A intron_variant MELA-AU 4 152088836 152088836 single base substitution G A upstream_gene_variant MELA-AU 4 152089011 152089011 single base substitution G A downstream_gene_variant MELA-AU 4 152089011 152089011 single base substitution G A intron_variant MELA-AU 4 152089011 152089011 single base substitution G A upstream_gene_variant MELA-AU 4 152089276 152089276 single base substitution C A downstream_gene_variant MELA-AU 4 152089276 152089276 single base substitution C A intron_variant MELA-AU 4 152089276 152089276 single base substitution C A upstream_gene_variant MELA-AU 4 152089276 152089276 single base substitution C T downstream_gene_variant MELA-AU 4 152089276 152089276 single base substitution C T intron_variant MELA-AU 4 152089276 152089276 single base substitution C T upstream_gene_variant MELA-AU 4 152089525 152089525 single base substitution G A downstream_gene_variant MELA-AU 4 152089525 152089525 single base substitution G A intron_variant MELA-AU 4 152089525 152089525 single base substitution G A upstream_gene_variant MELA-AU 4 152089680 152089680 single base substitution G A downstream_gene_variant MELA-AU 4 152089680 152089680 single base substitution G A intron_variant MELA-AU 4 152089680 152089680 single base substitution G A upstream_gene_variant MELA-AU 4 152090669 152090669 single base substitution G A downstream_gene_variant MELA-AU 4 152090669 152090669 single base substitution G A intron_variant MELA-AU 4 152090669 152090669 single base substitution G A upstream_gene_variant MELA-AU 4 152091004 152091004 single base substitution C T downstream_gene_variant MELA-AU 4 152091004 152091004 single base substitution C T intron_variant MELA-AU 4 152091004 152091004 single base substitution C T upstream_gene_variant MELA-AU 4 152091859 152091859 single base substitution C T downstream_gene_variant MELA-AU 4 152091859 152091859 single base substitution C T exon_variant MELA-AU 4 152091859 152091859 single base substitution C T intron_variant MELA-AU 4 152091859 152091859 single base substitution C T upstream_gene_variant MELA-AU 4 152092279 152092279 single base substitution C T downstream_gene_variant MELA-AU 4 152092279 152092279 single base substitution C T intron_variant MELA-AU 4 152092279 152092279 single base substitution C T upstream_gene_variant MELA-AU 4 152092420 152092420 single base substitution G A downstream_gene_variant MELA-AU 4 152092420 152092420 single base substitution G A intron_variant MELA-AU 4 152092420 152092420 single base substitution G A upstream_gene_variant MELA-AU 4 152093237 152093237 single base substitution G A downstream_gene_variant MELA-AU 4 152093237 152093237 single base substitution G A intron_variant MELA-AU 4 152093400 152093400 single base substitution C T downstream_gene_variant MELA-AU 4 152093400 152093400 single base substitution C T intron_variant MELA-AU 4 152094234 152094234 single base substitution C G downstream_gene_variant MELA-AU 4 152094234 152094234 single base substitution C G intron_variant MELA-AU 4 152094660 152094660 single base substitution G A downstream_gene_variant MELA-AU 4 152094660 152094660 single base substitution G A intron_variant MELA-AU 4 152095249 152095249 single base substitution G A downstream_gene_variant MELA-AU 4 152095249 152095249 single base substitution G A intron_variant MELA-AU 4 152095443 152095443 single base substitution C T downstream_gene_variant MELA-AU 4 152095443 152095443 single base substitution C T intron_variant MELA-AU 4 152095747 152095747 single base substitution A G downstream_gene_variant MELA-AU 4 152095747 152095747 single base substitution A G intron_variant MELA-AU 4 152096078 152096078 single base substitution C T downstream_gene_variant MELA-AU 4 152096078 152096078 single base substitution C T exon_variant MELA-AU 4 152096078 152096078 single base substitution C T synonymous_variant K146K 438G>A MELA-AU 4 152096386 152096386 single base substitution G A downstream_gene_variant MELA-AU 4 152096386 152096386 single base substitution G A exon_variant MELA-AU 4 152096386 152096386 single base substitution G A missense_variant P44S 130C>T MELA-AU 4 152096658 152096658 single base substitution T C 5_prime_UTR_variant MELA-AU 4 152096658 152096658 single base substitution T C downstream_gene_variant MELA-AU 4 152096658 152096658 single base substitution T C exon_variant MELA-AU 4 152096658 152096658 single base substitution T C upstream_gene_variant MELA-AU 4 152097039 152097039 single base substitution T A downstream_gene_variant MELA-AU 4 152097039 152097039 single base substitution T A intron_variant MELA-AU 4 152097039 152097039 single base substitution T A upstream_gene_variant MELA-AU 4 152099383 152099383 single base substitution C T intron_variant MELA-AU 4 152099383 152099383 single base substitution C T upstream_gene_variant MELA-AU 4 152099505 152099505 single base substitution G A intron_variant MELA-AU 4 152099505 152099505 single base substitution G A upstream_gene_variant MELA-AU 4 152100429 152100429 single base substitution T A intron_variant MELA-AU 4 152100429 152100429 single base substitution T A upstream_gene_variant MELA-AU 4 152101406 152101406 single base substitution A T intron_variant MELA-AU 4 152101406 152101406 single base substitution A T upstream_gene_variant MELA-AU 4 152101780 152101780 single base substitution G A intron_variant MELA-AU 4 152102178 152102178 single base substitution G A intron_variant MELA-AU 4 152102261 152102261 single base substitution C T intron_variant MELA-AU 4 152102846 152102846 single base substitution C T exon_variant MELA-AU 4 152102846 152102846 single base substitution C T intron_variant MELA-AU 4 152103562 152103562 single base substitution G A intron_variant MELA-AU 4 152104364 152104364 single base substitution G A intron_variant MELA-AU 4 152104675 152104675 single base substitution G A intron_variant MELA-AU 4 152105218 152105218 single base substitution G A intron_variant MELA-AU 4 152106153 152106153 single base substitution A T intron_variant MELA-AU 4 152106697 152106697 single base substitution G A intron_variant MELA-AU 4 152106956 152106957 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 152107197 152107197 single base substitution G A intron_variant MELA-AU 4 152107447 152107447 single base substitution G A intron_variant MELA-AU 4 152107575 152107575 single base substitution G A intron_variant MELA-AU 4 152107775 152107775 single base substitution G A intron_variant MELA-AU 4 152108543 152108543 single base substitution G A intron_variant MELA-AU 4 152108839 152108839 single base substitution C T intron_variant MELA-AU 4 152109268 152109268 single base substitution G A intron_variant MELA-AU 4 152109934 152109934 single base substitution C T intron_variant MELA-AU 4 152110308 152110308 single base substitution C T intron_variant MELA-AU 4 152111189 152111189 single base substitution G A intron_variant MELA-AU 4 152111868 152111868 single base substitution G A intron_variant MELA-AU 4 152111970 152111970 single base substitution G A intron_variant MELA-AU 4 152112107 152112107 single base substitution G A intron_variant MELA-AU 4 152112454 152112454 single base substitution G A intron_variant MELA-AU 4 152112513 152112513 single base substitution G A intron_variant MELA-AU 4 152112613 152112613 single base substitution G A intron_variant MELA-AU 4 152113104 152113104 single base substitution T C intron_variant MELA-AU 4 152113217 152113217 single base substitution C T intron_variant MELA-AU 4 152113887 152113887 single base substitution G A intron_variant MELA-AU 4 152114419 152114419 insertion of <=200bp - T intron_variant MELA-AU 4 152114421 152114422 deletion of <=200bp TG - intron_variant MELA-AU 4 152115030 152115030 single base substitution C T intron_variant MELA-AU 4 152115050 152115050 single base substitution T C intron_variant MELA-AU 4 152115740 152115740 single base substitution G C intron_variant MELA-AU 4 152115914 152115914 single base substitution G A intron_variant MELA-AU 4 152116732 152116732 single base substitution G A intron_variant MELA-AU 4 152117332 152117332 single base substitution G A intron_variant MELA-AU 4 152118349 152118349 single base substitution C T intron_variant MELA-AU 4 152121129 152121129 single base substitution G A intron_variant MELA-AU 4 152122228 152122228 single base substitution A T intron_variant MELA-AU 4 152123267 152123267 single base substitution C T intron_variant MELA-AU 4 152123381 152123381 single base substitution G A intron_variant MELA-AU 4 152124682 152124682 single base substitution G A intron_variant MELA-AU 4 152125723 152125723 single base substitution A T intron_variant MELA-AU 4 152126308 152126308 single base substitution G A intron_variant MELA-AU 4 152126474 152126474 single base substitution T G intron_variant MELA-AU 4 152127282 152127282 single base substitution G A intron_variant MELA-AU 4 152127855 152127855 single base substitution T A intron_variant MELA-AU 4 152128126 152128126 single base substitution A G intron_variant MELA-AU 4 152128213 152128213 single base substitution G A intron_variant MELA-AU 4 152129304 152129304 single base substitution A G intron_variant MELA-AU 4 152129854 152129854 single base substitution G A intron_variant MELA-AU 4 152130217 152130217 single base substitution C T intron_variant MELA-AU 4 152130779 152130779 single base substitution C T intron_variant MELA-AU 4 152131081 152131081 single base substitution T G intron_variant MELA-AU 4 152131459 152131459 single base substitution G A intron_variant MELA-AU 4 152132315 152132315 single base substitution G A intron_variant MELA-AU 4 152132427 152132427 single base substitution A T intron_variant MELA-AU 4 152132779 152132779 single base substitution G A intron_variant MELA-AU 4 152132945 152132945 single base substitution G A intron_variant MELA-AU 4 152134101 152134101 single base substitution A G intron_variant MELA-AU 4 152134140 152134140 single base substitution G A intron_variant MELA-AU 4 152134457 152134457 single base substitution G A intron_variant MELA-AU 4 152136676 152136676 single base substitution A C intron_variant MELA-AU 4 152136927 152136927 single base substitution C T intron_variant MELA-AU 4 152137026 152137026 single base substitution G A intron_variant MELA-AU 4 152137118 152137118 single base substitution G A intron_variant MELA-AU 4 152137314 152137314 single base substitution G A intron_variant MELA-AU 4 152137626 152137626 single base substitution G A intron_variant MELA-AU 4 152138573 152138573 single base substitution A G intron_variant MELA-AU 4 152141590 152141590 single base substitution A T intron_variant MELA-AU 4 152142405 152142406 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 152142452 152142452 single base substitution G A intron_variant MELA-AU 4 152145159 152145159 single base substitution G A intron_variant MELA-AU 4 152145222 152145222 single base substitution G A intron_variant MELA-AU 4 152145388 152145388 single base substitution G A intron_variant MELA-AU 4 152146033 152146033 single base substitution C T intron_variant MELA-AU 4 152146054 152146054 single base substitution A T intron_variant MELA-AU 4 152146173 152146173 single base substitution A C intron_variant MELA-AU 4 152146672 152146672 single base substitution T A intron_variant MELA-AU 4 152146913 152146913 single base substitution G A intron_variant MELA-AU 4 152147980 152147980 single base substitution T C intron_variant MELA-AU 4 152147980 152147980 single base substitution T C upstream_gene_variant MELA-AU 4 152148061 152148061 single base substitution C T intron_variant MELA-AU 4 152148061 152148061 single base substitution C T upstream_gene_variant MELA-AU 4 152148365 152148365 single base substitution A G intron_variant MELA-AU 4 152148365 152148365 single base substitution A G upstream_gene_variant MELA-AU 4 152148692 152148692 single base substitution T G intron_variant MELA-AU 4 152148692 152148692 single base substitution T G upstream_gene_variant MELA-AU 4 152149918 152149918 single base substitution A T intron_variant MELA-AU 4 152149918 152149918 single base substitution A T upstream_gene_variant MELA-AU 4 152150302 152150302 single base substitution G A intron_variant MELA-AU 4 152150302 152150302 single base substitution G A upstream_gene_variant MELA-AU 4 152150603 152150603 single base substitution G A intron_variant MELA-AU 4 152150603 152150603 single base substitution G A upstream_gene_variant MELA-AU 4 152150617 152150617 single base substitution G A intron_variant MELA-AU 4 152150617 152150617 single base substitution G A upstream_gene_variant MELA-AU 4 152150836 152150836 single base substitution G A intron_variant MELA-AU 4 152150836 152150836 single base substitution G A upstream_gene_variant MELA-AU 4 152151236 152151236 single base substitution G A intron_variant MELA-AU 4 152151236 152151236 single base substitution G A upstream_gene_variant MELA-AU 4 152151885 152151885 single base substitution A G intron_variant MELA-AU 4 152151885 152151885 single base substitution A G upstream_gene_variant MELA-AU 4 152153309 152153309 single base substitution C T intron_variant MELA-AU 4 152153309 152153309 single base substitution C T upstream_gene_variant MELA-AU 4 152154431 152154431 single base substitution G A intron_variant MELA-AU 4 152154506 152154506 single base substitution G A intron_variant MELA-AU 4 152154797 152154797 single base substitution A G intron_variant MELA-AU 4 152154819 152154819 single base substitution G A intron_variant MELA-AU 4 152155992 152155992 single base substitution T G intron_variant MELA-AU 4 152156729 152156729 single base substitution G A intron_variant MELA-AU 4 152157206 152157207 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 152157513 152157513 single base substitution G A intron_variant MELA-AU 4 152158076 152158076 single base substitution G A intron_variant MELA-AU 4 152158690 152158690 single base substitution G A intron_variant MELA-AU 4 152158770 152158770 single base substitution G A intron_variant MELA-AU 4 152158833 152158833 single base substitution G A intron_variant MELA-AU 4 152159512 152159512 single base substitution A G intron_variant MELA-AU 4 152159944 152159944 single base substitution G A intron_variant MELA-AU 4 152160919 152160919 single base substitution G A intron_variant MELA-AU 4 152161238 152161238 single base substitution G A intron_variant MELA-AU 4 152161490 152161490 single base substitution G A intron_variant MELA-AU 4 152161739 152161739 single base substitution C T intron_variant MELA-AU 4 152161827 152161827 single base substitution C T intron_variant MELA-AU 4 152161897 152161897 single base substitution G A intron_variant MELA-AU 4 152162114 152162114 single base substitution G A intron_variant MELA-AU 4 152162150 152162150 single base substitution A T intron_variant MELA-AU 4 152162202 152162202 single base substitution T A intron_variant MELA-AU 4 152163728 152163728 single base substitution G A intron_variant MELA-AU 4 152164894 152164894 single base substitution G A intron_variant MELA-AU 4 152164942 152164942 single base substitution G A intron_variant MELA-AU 4 152166473 152166473 single base substitution T G intron_variant MELA-AU 4 152167205 152167206 multiple base substitution (>=2bp and <=200bp) AA GT intron_variant MELA-AU 4 152167352 152167352 single base substitution G A intron_variant MELA-AU 4 152167365 152167365 single base substitution C T intron_variant MELA-AU 4 152167823 152167823 single base substitution G T intron_variant MELA-AU 4 152168423 152168423 single base substitution G A intron_variant MELA-AU 4 152168477 152168477 single base substitution A T intron_variant MELA-AU 4 152168899 152168899 single base substitution G A intron_variant MELA-AU 4 152169405 152169405 single base substitution C G intron_variant MELA-AU 4 152169461 152169461 single base substitution A T intron_variant MELA-AU 4 152170004 152170004 single base substitution G A intron_variant MELA-AU 4 152170539 152170539 single base substitution G A intron_variant MELA-AU 4 152170777 152170777 single base substitution G A intron_variant MELA-AU 4 152171153 152171153 single base substitution G A intron_variant MELA-AU 4 152171184 152171184 single base substitution G A intron_variant MELA-AU 4 152171680 152171680 single base substitution G A intron_variant MELA-AU 4 152172622 152172622 single base substitution G A intron_variant MELA-AU 4 152172683 152172683 single base substitution G A intron_variant MELA-AU 4 152173734 152173734 single base substitution G A intron_variant MELA-AU 4 152173802 152173802 single base substitution G A intron_variant MELA-AU 4 152175267 152175267 single base substitution T C intron_variant MELA-AU 4 152176265 152176265 single base substitution C T intron_variant MELA-AU 4 152177043 152177043 single base substitution C T intron_variant MELA-AU 4 152177166 152177171 deletion of <=200bp GGGAGA - intron_variant MELA-AU 4 152177566 152177566 single base substitution G A intron_variant MELA-AU 4 152177941 152177941 single base substitution G A intron_variant MELA-AU 4 152178199 152178203 deletion of <=200bp AGTTA - intron_variant MELA-AU 4 152178231 152178231 single base substitution A G intron_variant MELA-AU 4 152178235 152178235 single base substitution G A intron_variant MELA-AU 4 152178460 152178460 single base substitution G A intron_variant MELA-AU 4 152179417 152179417 single base substitution G A intron_variant MELA-AU 4 152179680 152179680 single base substitution G A intron_variant MELA-AU 4 152179707 152179707 single base substitution T A intron_variant MELA-AU 4 152179804 152179804 single base substitution G A intron_variant MELA-AU 4 152180140 152180140 single base substitution A G intron_variant MELA-AU 4 152180375 152180375 single base substitution C T intron_variant MELA-AU 4 152180548 152180548 single base substitution G A intron_variant MELA-AU 4 152180685 152180685 single base substitution G A intron_variant MELA-AU 4 152180811 152180811 single base substitution G A intron_variant MELA-AU 4 152182056 152182056 single base substitution C T intron_variant MELA-AU 4 152182298 152182298 single base substitution G A intron_variant MELA-AU 4 152185140 152185140 single base substitution G A intron_variant MELA-AU 4 152185372 152185372 single base substitution C T intron_variant MELA-AU 4 152185404 152185404 single base substitution G A intron_variant MELA-AU 4 152185493 152185493 single base substitution G A intron_variant MELA-AU 4 152185854 152185854 single base substitution G A intron_variant MELA-AU 4 152185915 152185915 single base substitution G A intron_variant MELA-AU 4 152186057 152186057 single base substitution T C intron_variant MELA-AU 4 152186629 152186629 single base substitution T C intron_variant MELA-AU 4 152187029 152187029 single base substitution G T intron_variant MELA-AU 4 152188018 152188018 single base substitution A T intron_variant MELA-AU 4 152188018 152188018 single base substitution A T upstream_gene_variant MELA-AU 4 152188067 152188067 single base substitution G A intron_variant MELA-AU 4 152188067 152188067 single base substitution G A upstream_gene_variant MELA-AU 4 152188272 152188272 single base substitution A G intron_variant MELA-AU 4 152188272 152188272 single base substitution A G upstream_gene_variant MELA-AU 4 152188394 152188394 single base substitution G A intron_variant MELA-AU 4 152188394 152188394 single base substitution G A upstream_gene_variant MELA-AU 4 152188561 152188561 single base substitution C T intron_variant MELA-AU 4 152188561 152188561 single base substitution C T upstream_gene_variant MELA-AU 4 152190157 152190157 single base substitution G A intron_variant MELA-AU 4 152190157 152190157 single base substitution G A upstream_gene_variant MELA-AU 4 152192461 152192461 single base substitution A G intron_variant MELA-AU 4 152192477 152192477 single base substitution C A intron_variant MELA-AU 4 152192524 152192524 single base substitution A T intron_variant MELA-AU 4 152193432 152193432 single base substitution G A intron_variant MELA-AU 4 152195929 152195929 single base substitution G A intron_variant MELA-AU 4 152196257 152196257 single base substitution G A intron_variant MELA-AU 4 152196682 152196682 single base substitution C T intron_variant MELA-AU 4 152197185 152197185 single base substitution G A intron_variant MELA-AU 4 152197990 152197990 single base substitution C A intron_variant MELA-AU 4 152198272 152198272 single base substitution G A intron_variant MELA-AU 4 152198467 152198467 single base substitution G A intron_variant MELA-AU 4 152198893 152198893 single base substitution T C intron_variant MELA-AU 4 152199828 152199828 single base substitution G A intron_variant MELA-AU 4 152199876 152199876 single base substitution G A intron_variant MELA-AU 4 152200069 152200069 single base substitution G A intron_variant MELA-AU 4 152200351 152200351 single base substitution A C intron_variant MELA-AU 4 152200743 152200744 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 152200823 152200823 single base substitution G A intron_variant MELA-AU 4 152202205 152202205 single base substitution G A intron_variant MELA-AU 4 152202265 152202265 single base substitution G A intron_variant MELA-AU 4 152202285 152202285 single base substitution G A intron_variant MELA-AU 4 152202565 152202565 single base substitution G A intron_variant MELA-AU 4 152202690 152202690 single base substitution G A intron_variant MELA-AU 4 152202831 152202831 single base substitution A T intron_variant MELA-AU 4 152203146 152203146 single base substitution G A intron_variant MELA-AU 4 152203687 152203687 single base substitution G A intron_variant MELA-AU 4 152203858 152203858 single base substitution G A intron_variant MELA-AU 4 152204387 152204387 single base substitution G A intron_variant MELA-AU 4 152204606 152204606 single base substitution T G intron_variant MELA-AU 4 152206375 152206375 single base substitution C T intron_variant MELA-AU 4 152206415 152206415 single base substitution A C intron_variant MELA-AU 4 152206527 152206527 single base substitution A G intron_variant MELA-AU 4 152206575 152206575 single base substitution G A intron_variant MELA-AU 4 152206586 152206586 single base substitution G A intron_variant MELA-AU 4 152206666 152206666 single base substitution G A intron_variant MELA-AU 4 152207031 152207031 single base substitution A G intron_variant MELA-AU 4 152207388 152207388 single base substitution A T intron_variant MELA-AU 4 152208058 152208058 single base substitution G A intron_variant MELA-AU 4 152208206 152208206 single base substitution G A intron_variant MELA-AU 4 152208398 152208398 single base substitution G A intron_variant MELA-AU 4 152209066 152209066 single base substitution G A intron_variant MELA-AU 4 152209813 152209813 single base substitution G A intron_variant MELA-AU 4 152209838 152209838 single base substitution A T intron_variant MELA-AU 4 152209888 152209888 single base substitution G A intron_variant MELA-AU 4 152211008 152211008 single base substitution G A intron_variant MELA-AU 4 152211267 152211267 single base substitution C T intron_variant MELA-AU 4 152211653 152211653 single base substitution A G intron_variant MELA-AU 4 152212403 152212403 single base substitution T A intron_variant MELA-AU 4 152214226 152214227 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 152214803 152214803 single base substitution G A intron_variant MELA-AU 4 152214971 152214972 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 152215946 152215946 single base substitution A T intron_variant MELA-AU 4 152216125 152216125 single base substitution G A intron_variant MELA-AU 4 152216158 152216159 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 152216196 152216196 single base substitution G A intron_variant MELA-AU 4 152216255 152216255 single base substitution G A intron_variant MELA-AU 4 152216261 152216261 single base substitution G A intron_variant MELA-AU 4 152216359 152216359 single base substitution G A intron_variant MELA-AU 4 152216424 152216424 single base substitution G A intron_variant MELA-AU 4 152216901 152216901 single base substitution G A intron_variant MELA-AU 4 152217632 152217632 single base substitution C T intron_variant MELA-AU 4 152218071 152218071 single base substitution G A intron_variant MELA-AU 4 152218341 152218341 single base substitution C T intron_variant MELA-AU 4 152219238 152219238 single base substitution G A intron_variant MELA-AU 4 152219250 152219250 single base substitution G A intron_variant MELA-AU 4 152219251 152219251 single base substitution G A intron_variant MELA-AU 4 152219288 152219288 single base substitution G A intron_variant MELA-AU 4 152219597 152219597 single base substitution G A intron_variant MELA-AU 4 152219685 152219685 single base substitution G A intron_variant MELA-AU 4 152219997 152219997 single base substitution G A intron_variant MELA-AU 4 152220092 152220092 single base substitution C T intron_variant MELA-AU 4 152220540 152220540 single base substitution C T intron_variant MELA-AU 4 152220546 152220546 single base substitution A T intron_variant MELA-AU 4 152220551 152220551 single base substitution G A intron_variant MELA-AU 4 152220665 152220665 single base substitution G T intron_variant MELA-AU 4 152220737 152220737 insertion of <=200bp - AT intron_variant MELA-AU 4 152220738 152220738 single base substitution A T intron_variant MELA-AU 4 152220828 152220828 single base substitution G A intron_variant MELA-AU 4 152220877 152220877 single base substitution G A intron_variant MELA-AU 4 152221328 152221329 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 4 152221342 152221343 multiple base substitution (>=2bp and <=200bp) AA GC intron_variant MELA-AU 4 152221561 152221561 single base substitution G A intron_variant MELA-AU 4 152221910 152221910 single base substitution G A intron_variant MELA-AU 4 152222005 152222005 single base substitution G A intron_variant MELA-AU 4 152222107 152222107 single base substitution G T intron_variant MELA-AU 4 152222365 152222365 single base substitution C T intron_variant MELA-AU 4 152222778 152222778 single base substitution T A intron_variant MELA-AU 4 152222964 152222964 single base substitution G A intron_variant MELA-AU 4 152223255 152223255 single base substitution C A intron_variant MELA-AU 4 152223388 152223388 single base substitution C T intron_variant MELA-AU 4 152224033 152224033 single base substitution G A intron_variant MELA-AU 4 152224347 152224347 single base substitution G A intron_variant MELA-AU 4 152224556 152224556 single base substitution G A intron_variant MELA-AU 4 152224749 152224749 single base substitution G A intron_variant MELA-AU 4 152225139 152225139 single base substitution T A intron_variant MELA-AU 4 152225671 152225671 single base substitution C T intron_variant MELA-AU 4 152226732 152226732 single base substitution G A intron_variant MELA-AU 4 152227314 152227314 single base substitution G A intron_variant MELA-AU 4 152227330 152227330 single base substitution G T intron_variant MELA-AU 4 152227841 152227841 single base substitution G A intron_variant MELA-AU 4 152229138 152229138 single base substitution A G intron_variant MELA-AU 4 152229662 152229662 single base substitution G A intron_variant MELA-AU 4 152229799 152229799 single base substitution C T intron_variant MELA-AU 4 152231048 152231048 single base substitution G A intron_variant MELA-AU 4 152231242 152231242 single base substitution T C intron_variant MELA-AU 4 152231553 152231553 single base substitution A G intron_variant MELA-AU 4 152231628 152231628 single base substitution G A intron_variant MELA-AU 4 152231944 152231944 single base substitution G A intron_variant MELA-AU 4 152232566 152232566 single base substitution G A intron_variant MELA-AU 4 152232642 152232642 single base substitution A G intron_variant MELA-AU 4 152232995 152232995 single base substitution A T intron_variant MELA-AU 4 152233041 152233041 single base substitution G A intron_variant MELA-AU 4 152233436 152233436 single base substitution G A intron_variant MELA-AU 4 152233503 152233503 single base substitution G A intron_variant MELA-AU 4 152233804 152233804 single base substitution A C intron_variant MELA-AU 4 152233878 152233879 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 152234136 152234136 single base substitution G A intron_variant MELA-AU 4 152234935 152234935 single base substitution C A intron_variant MELA-AU 4 152237480 152237480 single base substitution G A intron_variant MELA-AU 4 152237955 152237955 single base substitution C T intron_variant MELA-AU 4 152238438 152238438 single base substitution C T intron_variant MELA-AU 4 152239020 152239020 single base substitution G A intron_variant MELA-AU 4 152239380 152239380 single base substitution G A intron_variant MELA-AU 4 152239577 152239577 single base substitution T A intron_variant MELA-AU 4 152240119 152240119 single base substitution G A intron_variant MELA-AU 4 152240304 152240304 single base substitution G A intron_variant MELA-AU 4 152240465 152240465 single base substitution G A intron_variant MELA-AU 4 152241587 152241587 single base substitution G A intron_variant MELA-AU 4 152241588 152241588 single base substitution G A intron_variant MELA-AU 4 152241596 152241596 single base substitution G A intron_variant MELA-AU 4 152241597 152241597 single base substitution G A intron_variant MELA-AU 4 152241620 152241634 deletion of <=200bp TAGAAATCATGTTCT - intron_variant MELA-AU 4 152241648 152241648 single base substitution G A intron_variant MELA-AU 4 152242696 152242696 single base substitution G A intron_variant MELA-AU 4 152243641 152243641 single base substitution T G intron_variant MELA-AU 4 152243929 152243929 single base substitution A C intron_variant MELA-AU 4 152244345 152244345 single base substitution C T intron_variant MELA-AU 4 152244584 152244584 single base substitution G A intron_variant MELA-AU 4 152244999 152245000 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 152245703 152245703 single base substitution A G intron_variant MELA-AU 4 152246792 152246792 single base substitution C T upstream_gene_variant MELA-AU 4 152246852 152246852 single base substitution G A upstream_gene_variant MELA-AU 4 152246978 152246978 single base substitution G A upstream_gene_variant MELA-AU 4 152247367 152247367 single base substitution T C upstream_gene_variant MELA-AU 4 152247803 152247803 single base substitution C T upstream_gene_variant MELA-AU 4 152247821 152247821 single base substitution A T upstream_gene_variant MELA-AU 4 152247969 152247969 single base substitution G A upstream_gene_variant MELA-AU 4 152248295 152248295 single base substitution C T upstream_gene_variant MELA-AU 4 152248636 152248636 single base substitution G A upstream_gene_variant MELA-AU 4 152248827 152248828 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 152248915 152248915 single base substitution G A upstream_gene_variant MELA-AU 4 152249221 152249221 single base substitution C T upstream_gene_variant MELA-AU 4 152249336 152249336 single base substitution G A upstream_gene_variant MELA-AU 4 152249856 152249856 single base substitution G A upstream_gene_variant MELA-AU 4 152249948 152249948 single base substitution T C upstream_gene_variant MELA-AU 4 152250569 152250569 single base substitution G A upstream_gene_variant MELA-AU 4 152251765 152251765 single base substitution G A upstream_gene_variant ORCA-IN 4 152026525 152026525 single base substitution G A intron_variant ORCA-IN 4 152052506 152052506 single base substitution G A intron_variant ORCA-IN 4 152069175 152069175 single base substitution C G exon_variant ORCA-IN 4 152069175 152069175 single base substitution C G missense_variant A345P 1033G>C ORCA-IN 4 152069175 152069175 single base substitution C G missense_variant A381P 1141G>C ORCA-IN 4 152069175 152069175 single base substitution C G upstream_gene_variant ORCA-IN 4 152077782 152077782 single base substitution G A intron_variant ORCA-IN 4 152083996 152083996 single base substitution G C intron_variant ORCA-IN 4 152095819 152095819 single base substitution C A downstream_gene_variant ORCA-IN 4 152095819 152095819 single base substitution C A intron_variant ORCA-IN 4 152095819 152095819 single base substitution C A splice_region_variant ORCA-IN 4 152102678 152102678 single base substitution C A intron_variant ORCA-IN 4 152116421 152116421 single base substitution G C intron_variant ORCA-IN 4 152130344 152130344 single base substitution G A intron_variant ORCA-IN 4 152133619 152133619 single base substitution G A intron_variant ORCA-IN 4 152137104 152137104 single base substitution G C intron_variant ORCA-IN 4 152139801 152139801 single base substitution C T intron_variant ORCA-IN 4 152150140 152150140 single base substitution G C intron_variant ORCA-IN 4 152150140 152150140 single base substitution G C upstream_gene_variant ORCA-IN 4 152154261 152154261 single base substitution G T intron_variant ORCA-IN 4 152202545 152202545 single base substitution G A intron_variant OV-AU 4 152019389 152019389 single base substitution T A downstream_gene_variant OV-AU 4 152021170 152021170 single base substitution A C downstream_gene_variant OV-AU 4 152037318 152037318 single base substitution A G downstream_gene_variant OV-AU 4 152037318 152037318 single base substitution A G intron_variant OV-AU 4 152069183 152069183 single base substitution C A exon_variant OV-AU 4 152069183 152069183 single base substitution C A missense_variant S342I 1025G>T OV-AU 4 152069183 152069183 single base substitution C A missense_variant S378I 1133G>T OV-AU 4 152069183 152069183 single base substitution C A upstream_gene_variant OV-AU 4 152071464 152071464 single base substitution T C intron_variant OV-AU 4 152074761 152074761 single base substitution A T intron_variant OV-AU 4 152107881 152107881 single base substitution G A intron_variant OV-AU 4 152119814 152119814 single base substitution G A intron_variant OV-AU 4 152124198 152124198 single base substitution G C intron_variant OV-AU 4 152124528 152124528 single base substitution T C intron_variant OV-AU 4 152130673 152130673 single base substitution C T intron_variant OV-AU 4 152134291 152134291 single base substitution C G intron_variant OV-AU 4 152144266 152144266 single base substitution C G intron_variant OV-AU 4 152145973 152145973 single base substitution A G intron_variant OV-AU 4 152151515 152151515 single base substitution C A intron_variant OV-AU 4 152151515 152151515 single base substitution C A upstream_gene_variant OV-AU 4 152151840 152151840 single base substitution G T intron_variant OV-AU 4 152151840 152151840 single base substitution G T upstream_gene_variant OV-AU 4 152163918 152163918 single base substitution A T intron_variant OV-AU 4 152168056 152168056 single base substitution C G intron_variant OV-AU 4 152188241 152188241 single base substitution T G intron_variant OV-AU 4 152188241 152188241 single base substitution T G upstream_gene_variant OV-AU 4 152191977 152191977 single base substitution C A intron_variant OV-AU 4 152191977 152191977 single base substitution C A upstream_gene_variant OV-AU 4 152192631 152192631 single base substitution T A intron_variant OV-AU 4 152194122 152194122 single base substitution T A intron_variant OV-AU 4 152197779 152197779 single base substitution C G intron_variant OV-AU 4 152197780 152197780 single base substitution C A intron_variant OV-AU 4 152203862 152203862 single base substitution G C intron_variant OV-AU 4 152205771 152205771 single base substitution T C intron_variant OV-AU 4 152215113 152215113 single base substitution T C intron_variant OV-AU 4 152215789 152215789 single base substitution T C intron_variant OV-AU 4 152218806 152218806 single base substitution G A intron_variant OV-AU 4 152221125 152221125 single base substitution G A intron_variant OV-AU 4 152226683 152226683 single base substitution T C intron_variant OV-AU 4 152233392 152233392 single base substitution T C intron_variant OV-AU 4 152234787 152234787 single base substitution C T intron_variant OV-AU 4 152240353 152240353 single base substitution A G intron_variant OV-AU 4 152243528 152243528 single base substitution T C intron_variant OV-US 4 152024193 152024193 single base substitution G A exon_variant PACA-AU 4 152023640 152023640 single base substitution C T downstream_gene_variant PACA-AU 4 152026957 152026957 single base substitution G T intron_variant PACA-AU 4 152029722 152029722 single base substitution C G intron_variant PACA-AU 4 152032770 152032770 single base substitution C T intron_variant PACA-AU 4 152034213 152034213 single base substitution C T intron_variant PACA-AU 4 152034325 152034325 single base substitution C T intron_variant PACA-AU 4 152037309 152037309 single base substitution T C downstream_gene_variant PACA-AU 4 152037309 152037309 single base substitution T C intron_variant PACA-AU 4 152042880 152042880 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 4 152042880 152042880 deletion of <=200bp A - downstream_gene_variant PACA-AU 4 152042880 152042880 deletion of <=200bp A - exon_variant PACA-AU 4 152042880 152042880 deletion of <=200bp A - upstream_gene_variant PACA-AU 4 152043683 152043683 single base substitution A C intron_variant PACA-AU 4 152043683 152043683 single base substitution A C upstream_gene_variant PACA-AU 4 152045486 152045486 single base substitution C T intron_variant PACA-AU 4 152045486 152045486 single base substitution C T upstream_gene_variant PACA-AU 4 152049133 152049133 single base substitution G A intron_variant PACA-AU 4 152050382 152050382 single base substitution C A intron_variant PACA-AU 4 152052638 152052639 deletion of <=200bp TC - intron_variant PACA-AU 4 152082131 152082131 single base substitution G C intron_variant PACA-AU 4 152085830 152085830 single base substitution C T intron_variant PACA-AU 4 152097433 152097433 single base substitution T A downstream_gene_variant PACA-AU 4 152097433 152097433 single base substitution T A intron_variant PACA-AU 4 152097433 152097433 single base substitution T A upstream_gene_variant PACA-AU 4 152098821 152098821 single base substitution G A intron_variant PACA-AU 4 152098821 152098821 single base substitution G A upstream_gene_variant PACA-AU 4 152099547 152099547 single base substitution A G intron_variant PACA-AU 4 152099547 152099547 single base substitution A G upstream_gene_variant PACA-AU 4 152110535 152110535 single base substitution G T intron_variant PACA-AU 4 152113104 152113104 insertion of <=200bp - TTTTTTC intron_variant PACA-AU 4 152113568 152113568 single base substitution G A intron_variant PACA-AU 4 152114419 152114419 insertion of <=200bp - T intron_variant PACA-AU 4 152126288 152126288 single base substitution C T intron_variant PACA-AU 4 152147856 152147856 single base substitution A G intron_variant PACA-AU 4 152147856 152147856 single base substitution A G upstream_gene_variant PACA-AU 4 152148513 152148513 single base substitution C T intron_variant PACA-AU 4 152148513 152148513 single base substitution C T upstream_gene_variant PACA-AU 4 152148966 152148966 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 4 152148966 152148966 single base substitution G C exon_variant PACA-AU 4 152148966 152148966 single base substitution G C intron_variant PACA-AU 4 152148966 152148966 single base substitution G C upstream_gene_variant PACA-AU 4 152153544 152153544 single base substitution C G intron_variant PACA-AU 4 152153544 152153544 single base substitution C G upstream_gene_variant PACA-AU 4 152160572 152160572 single base substitution T G intron_variant PACA-AU 4 152161652 152161652 single base substitution A T intron_variant PACA-AU 4 152170937 152170942 deletion of <=200bp CAGCAA - intron_variant PACA-AU 4 152175269 152175269 single base substitution C T intron_variant PACA-AU 4 152176106 152176106 single base substitution C T intron_variant PACA-AU 4 152177029 152177029 single base substitution G A intron_variant PACA-AU 4 152183119 152183119 single base substitution T C intron_variant PACA-AU 4 152184557 152184557 single base substitution G C intron_variant PACA-AU 4 152186731 152186731 single base substitution T C intron_variant PACA-AU 4 152186887 152186887 single base substitution C T intron_variant PACA-AU 4 152188308 152188308 single base substitution C G intron_variant PACA-AU 4 152188308 152188308 single base substitution C G upstream_gene_variant PACA-AU 4 152188731 152188733 deletion of <=200bp CTT - intron_variant PACA-AU 4 152188731 152188733 deletion of <=200bp CTT - upstream_gene_variant PACA-AU 4 152203539 152203539 single base substitution G A intron_variant PACA-AU 4 152203858 152203858 single base substitution G A intron_variant PACA-AU 4 152206252 152206252 single base substitution A T intron_variant PACA-AU 4 152213306 152213306 single base substitution C T intron_variant PACA-AU 4 152218059 152218059 single base substitution C A intron_variant PACA-AU 4 152220481 152220481 single base substitution C G intron_variant PACA-AU 4 152221549 152221549 single base substitution A G intron_variant PACA-AU 4 152226551 152226551 single base substitution A G intron_variant PACA-AU 4 152234066 152234066 single base substitution A T intron_variant PACA-AU 4 152234266 152234266 single base substitution G T intron_variant PACA-AU 4 152239504 152239504 single base substitution C T intron_variant PACA-AU 4 152240461 152240461 single base substitution C G intron_variant PACA-AU 4 152240653 152240653 single base substitution G T intron_variant PACA-AU 4 152244738 152244738 single base substitution C G intron_variant PACA-AU 4 152250312 152250312 single base substitution C A upstream_gene_variant PACA-AU 4 152250990 152250990 single base substitution T G upstream_gene_variant PACA-CA 4 152020355 152020355 single base substitution C T downstream_gene_variant PACA-CA 4 152024261 152024261 single base substitution A T exon_variant PACA-CA 4 152024411 152024411 single base substitution T C intron_variant PACA-CA 4 152025683 152025683 single base substitution G T intron_variant PACA-CA 4 152027080 152027080 single base substitution C T intron_variant PACA-CA 4 152034350 152034353 deletion of <=200bp ACTG - intron_variant PACA-CA 4 152036294 152036294 single base substitution T C intron_variant PACA-CA 4 152037444 152037444 single base substitution T C downstream_gene_variant PACA-CA 4 152037444 152037444 single base substitution T C intron_variant PACA-CA 4 152037445 152037445 single base substitution A G downstream_gene_variant PACA-CA 4 152037445 152037445 single base substitution A G intron_variant PACA-CA 4 152040183 152040183 single base substitution G A downstream_gene_variant PACA-CA 4 152040183 152040183 single base substitution G A intron_variant PACA-CA 4 152041267 152041267 single base substitution G A downstream_gene_variant PACA-CA 4 152041267 152041267 single base substitution G A intron_variant PACA-CA 4 152046250 152046250 single base substitution A C intron_variant PACA-CA 4 152046250 152046250 single base substitution A C upstream_gene_variant PACA-CA 4 152047236 152047236 single base substitution C A intron_variant PACA-CA 4 152053008 152053008 single base substitution G A intron_variant PACA-CA 4 152056451 152056451 single base substitution T C downstream_gene_variant PACA-CA 4 152056451 152056451 single base substitution T C intron_variant PACA-CA 4 152057177 152057177 single base substitution A G downstream_gene_variant PACA-CA 4 152057177 152057177 single base substitution A G intron_variant PACA-CA 4 152060369 152060369 single base substitution G A intron_variant PACA-CA 4 152069114 152069114 deletion of <=200bp G - exon_variant PACA-CA 4 152069114 152069114 deletion of <=200bp G - frameshift_variant P365 PACA-CA 4 152069114 152069114 deletion of <=200bp G - frameshift_variant P401 PACA-CA 4 152069114 152069114 deletion of <=200bp G - upstream_gene_variant PACA-CA 4 152074761 152074761 single base substitution A T intron_variant PACA-CA 4 152078248 152078248 insertion of <=200bp - A intron_variant PACA-CA 4 152078592 152078592 single base substitution C A intron_variant PACA-CA 4 152081362 152081362 single base substitution C T intron_variant PACA-CA 4 152087351 152087351 single base substitution C G downstream_gene_variant PACA-CA 4 152087351 152087351 single base substitution C G exon_variant PACA-CA 4 152087351 152087351 single base substitution C G intron_variant PACA-CA 4 152091233 152091233 single base substitution G T downstream_gene_variant PACA-CA 4 152091233 152091233 single base substitution G T intron_variant PACA-CA 4 152091233 152091233 single base substitution G T upstream_gene_variant PACA-CA 4 152091318 152091318 single base substitution T C downstream_gene_variant PACA-CA 4 152091318 152091318 single base substitution T C intron_variant PACA-CA 4 152091318 152091318 single base substitution T C upstream_gene_variant PACA-CA 4 152091348 152091348 single base substitution T C downstream_gene_variant PACA-CA 4 152091348 152091348 single base substitution T C intron_variant PACA-CA 4 152091348 152091348 single base substitution T C upstream_gene_variant PACA-CA 4 152094348 152094348 single base substitution C A downstream_gene_variant PACA-CA 4 152094348 152094348 single base substitution C A intron_variant PACA-CA 4 152094890 152094890 single base substitution T C downstream_gene_variant PACA-CA 4 152094890 152094890 single base substitution T C intron_variant PACA-CA 4 152095344 152095344 single base substitution C T downstream_gene_variant PACA-CA 4 152095344 152095344 single base substitution C T intron_variant PACA-CA 4 152097422 152097422 deletion of <=200bp A - downstream_gene_variant PACA-CA 4 152097422 152097422 deletion of <=200bp A - intron_variant PACA-CA 4 152097422 152097422 deletion of <=200bp A - upstream_gene_variant PACA-CA 4 152098626 152098626 single base substitution G A intron_variant PACA-CA 4 152098626 152098626 single base substitution G A upstream_gene_variant PACA-CA 4 152098667 152098667 single base substitution A G intron_variant PACA-CA 4 152098667 152098667 single base substitution A G upstream_gene_variant PACA-CA 4 152100517 152100517 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 4 152100517 152100517 single base substitution G A exon_variant PACA-CA 4 152100517 152100517 single base substitution G A upstream_gene_variant PACA-CA 4 152110382 152110382 single base substitution C T intron_variant PACA-CA 4 152111333 152111333 single base substitution C T intron_variant PACA-CA 4 152112368 152112368 single base substitution T C intron_variant PACA-CA 4 152112629 152112629 single base substitution G A intron_variant PACA-CA 4 152112653 152112653 single base substitution C A intron_variant PACA-CA 4 152112940 152112940 single base substitution G C intron_variant PACA-CA 4 152115335 152115335 single base substitution G A intron_variant PACA-CA 4 152116544 152116544 single base substitution A G intron_variant PACA-CA 4 152117192 152117192 single base substitution G A intron_variant PACA-CA 4 152127177 152127177 single base substitution C A intron_variant PACA-CA 4 152138250 152138250 single base substitution G T intron_variant PACA-CA 4 152143768 152143768 single base substitution T A intron_variant PACA-CA 4 152149347 152149347 single base substitution T C intron_variant PACA-CA 4 152149347 152149347 single base substitution T C upstream_gene_variant PACA-CA 4 152152387 152152387 single base substitution G T intron_variant PACA-CA 4 152152387 152152387 single base substitution G T upstream_gene_variant PACA-CA 4 152155198 152155198 single base substitution C T intron_variant PACA-CA 4 152155398 152155400 deletion of <=200bp TTC - intron_variant PACA-CA 4 152155800 152155800 single base substitution G T intron_variant PACA-CA 4 152162636 152162636 single base substitution G T intron_variant PACA-CA 4 152164299 152164299 single base substitution C A intron_variant PACA-CA 4 152165042 152165042 single base substitution A G intron_variant PACA-CA 4 152165227 152165227 single base substitution A C intron_variant PACA-CA 4 152166435 152166435 single base substitution T A intron_variant PACA-CA 4 152169507 152169507 single base substitution T A intron_variant PACA-CA 4 152169684 152169684 single base substitution T C intron_variant PACA-CA 4 152170171 152170171 single base substitution A G intron_variant PACA-CA 4 152174631 152174631 single base substitution G A intron_variant PACA-CA 4 152174937 152174937 single base substitution A C intron_variant PACA-CA 4 152179659 152179659 single base substitution C G intron_variant PACA-CA 4 152188775 152188775 insertion of <=200bp - T intron_variant PACA-CA 4 152188775 152188775 insertion of <=200bp - T upstream_gene_variant PACA-CA 4 152191225 152191225 single base substitution A T intron_variant PACA-CA 4 152191225 152191225 single base substitution A T upstream_gene_variant PACA-CA 4 152191613 152191613 single base substitution G A intron_variant PACA-CA 4 152191613 152191613 single base substitution G A upstream_gene_variant PACA-CA 4 152201326 152201326 insertion of <=200bp - T intron_variant PACA-CA 4 152205464 152205464 single base substitution G C intron_variant PACA-CA 4 152213797 152213797 insertion of <=200bp - A intron_variant PACA-CA 4 152219635 152219635 single base substitution C T intron_variant PACA-CA 4 152220231 152220231 single base substitution T C intron_variant PACA-CA 4 152221686 152221686 single base substitution C T intron_variant PACA-CA 4 152228655 152228655 single base substitution G A intron_variant PACA-CA 4 152230425 152230425 single base substitution C T intron_variant PACA-CA 4 152232834 152232834 single base substitution T A intron_variant PACA-CA 4 152233880 152233880 single base substitution G A intron_variant PACA-CA 4 152234682 152234682 single base substitution C T intron_variant PACA-CA 4 152234691 152234691 single base substitution C G intron_variant PACA-CA 4 152236485 152236485 single base substitution T C intron_variant PACA-CA 4 152241930 152241930 single base substitution G C intron_variant PACA-CA 4 152245674 152245674 single base substitution C A intron_variant PACA-CA 4 152249306 152249306 single base substitution A T upstream_gene_variant PACA-CA 4 152250426 152250426 insertion of <=200bp - A upstream_gene_variant PAEN-AU 4 152025088 152025088 single base substitution A G intron_variant PAEN-AU 4 152035579 152035579 single base substitution C A intron_variant PAEN-AU 4 152040118 152040118 single base substitution C T downstream_gene_variant PAEN-AU 4 152040118 152040118 single base substitution C T intron_variant PAEN-AU 4 152055480 152055480 single base substitution C T downstream_gene_variant PAEN-AU 4 152055480 152055480 single base substitution C T intron_variant PAEN-AU 4 152073160 152073160 single base substitution G C intron_variant PAEN-AU 4 152114727 152114727 single base substitution C T intron_variant PAEN-AU 4 152133079 152133079 single base substitution T C intron_variant PAEN-AU 4 152135712 152135712 single base substitution G A intron_variant PAEN-AU 4 152143555 152143555 single base substitution G C intron_variant PAEN-AU 4 152154863 152154863 single base substitution T A intron_variant PAEN-AU 4 152164485 152164485 single base substitution A T intron_variant PAEN-AU 4 152166252 152166252 single base substitution C T intron_variant PAEN-AU 4 152186278 152186278 single base substitution T C intron_variant PAEN-AU 4 152215289 152215289 single base substitution C T intron_variant PAEN-AU 4 152225331 152225331 single base substitution A C intron_variant PAEN-IT 4 152037003 152037003 single base substitution G A downstream_gene_variant PAEN-IT 4 152037003 152037003 single base substitution G A intron_variant PAEN-IT 4 152075885 152075885 single base substitution C T intron_variant PAEN-IT 4 152089540 152089540 single base substitution G A downstream_gene_variant PAEN-IT 4 152089540 152089540 single base substitution G A intron_variant PAEN-IT 4 152089540 152089540 single base substitution G A upstream_gene_variant PAEN-IT 4 152091492 152091492 single base substitution G A downstream_gene_variant PAEN-IT 4 152091492 152091492 single base substitution G A intron_variant PAEN-IT 4 152091492 152091492 single base substitution G A upstream_gene_variant PAEN-IT 4 152115335 152115335 single base substitution G A intron_variant PAEN-IT 4 152128518 152128518 single base substitution T G intron_variant PAEN-IT 4 152142599 152142599 single base substitution C T intron_variant PAEN-IT 4 152163785 152163785 single base substitution G T intron_variant PAEN-IT 4 152170585 152170585 single base substitution G T intron_variant PAEN-IT 4 152249539 152249539 single base substitution G A upstream_gene_variant PBCA-DE 4 152023106 152023106 single base substitution A G downstream_gene_variant PBCA-DE 4 152032720 152032723 deletion of <=200bp ACCC - intron_variant PBCA-DE 4 152037471 152037471 single base substitution T A downstream_gene_variant PBCA-DE 4 152037471 152037471 single base substitution T A intron_variant PBCA-DE 4 152038707 152038707 single base substitution T A downstream_gene_variant PBCA-DE 4 152038707 152038707 single base substitution T A intron_variant PBCA-DE 4 152055436 152055437 deletion of <=200bp AA - downstream_gene_variant PBCA-DE 4 152055436 152055437 deletion of <=200bp AA - intron_variant PBCA-DE 4 152057139 152057139 insertion of <=200bp - AAAAC downstream_gene_variant PBCA-DE 4 152057139 152057139 insertion of <=200bp - AAAAC intron_variant PBCA-DE 4 152076884 152076884 insertion of <=200bp - A intron_variant PBCA-DE 4 152081873 152081873 single base substitution T C intron_variant PBCA-DE 4 152081887 152081887 single base substitution C A intron_variant PBCA-DE 4 152099218 152099218 single base substitution C T intron_variant PBCA-DE 4 152099218 152099218 single base substitution C T upstream_gene_variant PBCA-DE 4 152117356 152117356 single base substitution G T intron_variant PBCA-DE 4 152124791 152124791 single base substitution G A intron_variant PBCA-DE 4 152125723 152125723 single base substitution A T intron_variant PBCA-DE 4 152125725 152125725 single base substitution A T intron_variant PBCA-DE 4 152134820 152134820 insertion of <=200bp - ATTT intron_variant PBCA-DE 4 152137313 152137313 single base substitution C A intron_variant PBCA-DE 4 152138807 152138807 deletion of <=200bp A - intron_variant PBCA-DE 4 152141495 152141495 single base substitution T C intron_variant PBCA-DE 4 152144518 152144518 insertion of <=200bp - T intron_variant PBCA-DE 4 152152499 152152499 insertion of <=200bp - AT intron_variant PBCA-DE 4 152152499 152152499 insertion of <=200bp - AT upstream_gene_variant PBCA-DE 4 152154071 152154071 single base substitution C T intron_variant PBCA-DE 4 152154071 152154071 single base substitution C T upstream_gene_variant PBCA-DE 4 152155868 152155868 single base substitution G T intron_variant PBCA-DE 4 152163397 152163397 single base substitution T G intron_variant PBCA-DE 4 152169275 152169275 single base substitution T G intron_variant PBCA-DE 4 152171903 152171903 single base substitution T C intron_variant PBCA-DE 4 152174651 152174651 single base substitution G A intron_variant PBCA-DE 4 152178231 152178231 single base substitution A G intron_variant PBCA-DE 4 152182191 152182192 deletion of <=200bp AC - intron_variant PBCA-DE 4 152188663 152188663 single base substitution A T intron_variant PBCA-DE 4 152188663 152188663 single base substitution A T upstream_gene_variant PBCA-DE 4 152192541 152192541 single base substitution T C intron_variant PBCA-DE 4 152199149 152199149 single base substitution C T intron_variant PBCA-DE 4 152209255 152209255 single base substitution C G intron_variant PBCA-DE 4 152236888 152236888 single base substitution G A intron_variant PBCA-DE 4 152236941 152236941 insertion of <=200bp - A intron_variant PRAD-CA 4 152024578 152024578 single base substitution T G intron_variant PRAD-CA 4 152037368 152037368 single base substitution A G downstream_gene_variant PRAD-CA 4 152037368 152037368 single base substitution A G intron_variant PRAD-CA 4 152049406 152049406 single base substitution C G exon_variant PRAD-CA 4 152049406 152049406 single base substitution C G missense_variant E633Q 1897G>C PRAD-CA 4 152049406 152049406 single base substitution C G missense_variant E669Q 2005G>C PRAD-CA 4 152049406 152049406 single base substitution C G missense_variant E692Q 2074G>C PRAD-CA 4 152052100 152052100 single base substitution G A intron_variant PRAD-CA 4 152061966 152061966 single base substitution G A intron_variant PRAD-CA 4 152069599 152069599 single base substitution G C intron_variant PRAD-CA 4 152069599 152069599 single base substitution G C upstream_gene_variant PRAD-CA 4 152071380 152071380 single base substitution T C intron_variant PRAD-CA 4 152109959 152109959 single base substitution C T intron_variant PRAD-CA 4 152116782 152116782 single base substitution T G intron_variant PRAD-CA 4 152143371 152143371 single base substitution C A intron_variant PRAD-CA 4 152143372 152143372 single base substitution C A intron_variant PRAD-CA 4 152170327 152170327 single base substitution C T intron_variant PRAD-CA 4 152171145 152171145 single base substitution G C intron_variant PRAD-CA 4 152175199 152175199 single base substitution G A intron_variant PRAD-CA 4 152195878 152195878 single base substitution C T intron_variant PRAD-CA 4 152200894 152200894 single base substitution C G intron_variant PRAD-UK 4 152021290 152021290 single base substitution C G downstream_gene_variant PRAD-UK 4 152037095 152037095 single base substitution T C downstream_gene_variant PRAD-UK 4 152037095 152037095 single base substitution T C intron_variant PRAD-UK 4 152042820 152042820 single base substitution A G 3_prime_UTR_variant PRAD-UK 4 152042820 152042820 single base substitution A G downstream_gene_variant PRAD-UK 4 152042820 152042820 single base substitution A G exon_variant PRAD-UK 4 152042820 152042820 single base substitution A G upstream_gene_variant PRAD-UK 4 152074299 152074299 single base substitution A T intron_variant PRAD-UK 4 152077075 152077075 single base substitution A G intron_variant PRAD-UK 4 152105251 152105251 single base substitution A G intron_variant PRAD-UK 4 152109661 152109661 single base substitution T C intron_variant PRAD-UK 4 152116110 152116110 single base substitution C T intron_variant PRAD-UK 4 152123906 152123906 single base substitution C A intron_variant PRAD-UK 4 152124316 152124316 single base substitution G A intron_variant PRAD-UK 4 152134053 152134053 single base substitution G A intron_variant PRAD-UK 4 152136557 152136559 deletion of <=200bp ATT - intron_variant PRAD-UK 4 152148564 152148564 single base substitution A C intron_variant PRAD-UK 4 152148564 152148564 single base substitution A C upstream_gene_variant PRAD-UK 4 152150638 152150638 single base substitution T C intron_variant PRAD-UK 4 152150638 152150638 single base substitution T C upstream_gene_variant PRAD-UK 4 152201853 152201853 deletion of <=200bp G - intron_variant PRAD-UK 4 152214698 152214698 single base substitution A G intron_variant PRAD-UK 4 152245324 152245332 deletion of <=200bp TAAATTGAC - intron_variant PRAD-UK 4 152251693 152251693 single base substitution A G upstream_gene_variant PRAD-US 4 152048836 152048836 single base substitution C T exon_variant PRAD-US 4 152048836 152048836 single base substitution C T synonymous_variant P671P 2013G>A PRAD-US 4 152048836 152048836 single base substitution C T synonymous_variant P707P 2121G>A PRAD-US 4 152048836 152048836 single base substitution C T synonymous_variant P730P 2190G>A PRAD-US 4 152053535 152053535 single base substitution C T missense_variant S581N 1742G>A PRAD-US 4 152053535 152053535 single base substitution C T missense_variant S617N 1850G>A PRAD-US 4 152053535 152053535 single base substitution C T missense_variant S640N 1919G>A PRAD-US 4 152053535 152053535 single base substitution C T splice_region_variant PRAD-US 4 152201037 152201037 single base substitution G A intron_variant PRAD-US 4 152212529 152212529 single base substitution G A intron_variant READ-US 4 152080419 152080419 single base substitution G A exon_variant READ-US 4 152080419 152080419 single base substitution G A synonymous_variant L260L 780C>T READ-US 4 152080419 152080419 single base substitution G A synonymous_variant L296L 888C>T READ-US 4 152203390 152203390 single base substitution C A intron_variant RECA-EU 4 152025189 152025189 single base substitution T C intron_variant RECA-EU 4 152025965 152025965 single base substitution T A intron_variant RECA-EU 4 152035759 152035759 single base substitution T C intron_variant RECA-EU 4 152035954 152035954 single base substitution G A intron_variant RECA-EU 4 152042778 152042778 single base substitution G T 3_prime_UTR_variant RECA-EU 4 152042778 152042778 single base substitution G T downstream_gene_variant RECA-EU 4 152042778 152042778 single base substitution G T exon_variant RECA-EU 4 152042778 152042778 single base substitution G T upstream_gene_variant RECA-EU 4 152043250 152043250 single base substitution A C exon_variant RECA-EU 4 152043250 152043250 single base substitution A C missense_variant I730S 2189T>G RECA-EU 4 152043250 152043250 single base substitution A C missense_variant I766S 2297T>G RECA-EU 4 152043250 152043250 single base substitution A C missense_variant I789S 2366T>G RECA-EU 4 152043250 152043250 single base substitution A C upstream_gene_variant RECA-EU 4 152048997 152048997 single base substitution G A intron_variant RECA-EU 4 152048998 152048998 single base substitution C T intron_variant RECA-EU 4 152053623 152053623 single base substitution G A intron_variant RECA-EU 4 152056814 152056814 single base substitution C A downstream_gene_variant RECA-EU 4 152056814 152056814 single base substitution C A intron_variant RECA-EU 4 152063646 152063646 single base substitution G A intron_variant RECA-EU 4 152073670 152073670 single base substitution T C intron_variant RECA-EU 4 152076084 152076084 single base substitution A G intron_variant RECA-EU 4 152090382 152090382 single base substitution A T downstream_gene_variant RECA-EU 4 152090382 152090382 single base substitution A T intron_variant RECA-EU 4 152090382 152090382 single base substitution A T upstream_gene_variant RECA-EU 4 152090882 152090882 single base substitution G A downstream_gene_variant RECA-EU 4 152090882 152090882 single base substitution G A intron_variant RECA-EU 4 152090882 152090882 single base substitution G A upstream_gene_variant RECA-EU 4 152098111 152098111 single base substitution G A splice_region_variant RECA-EU 4 152098111 152098111 single base substitution G A upstream_gene_variant RECA-EU 4 152100675 152100675 single base substitution T A intron_variant RECA-EU 4 152100675 152100675 single base substitution T A upstream_gene_variant RECA-EU 4 152100676 152100676 single base substitution A T intron_variant RECA-EU 4 152100676 152100676 single base substitution A T upstream_gene_variant RECA-EU 4 152100739 152100739 single base substitution A C intron_variant RECA-EU 4 152100739 152100739 single base substitution A C upstream_gene_variant RECA-EU 4 152112739 152112739 single base substitution A C intron_variant RECA-EU 4 152125632 152125632 single base substitution C T intron_variant RECA-EU 4 152127019 152127019 single base substitution T C intron_variant RECA-EU 4 152138843 152138843 single base substitution T G intron_variant RECA-EU 4 152143821 152143821 single base substitution T C intron_variant RECA-EU 4 152147686 152147686 single base substitution A G 5_prime_UTR_variant RECA-EU 4 152147686 152147686 single base substitution A G intron_variant RECA-EU 4 152147686 152147686 single base substitution A G upstream_gene_variant RECA-EU 4 152150706 152150706 single base substitution T G intron_variant RECA-EU 4 152150706 152150706 single base substitution T G upstream_gene_variant RECA-EU 4 152153083 152153083 single base substitution C T intron_variant RECA-EU 4 152153083 152153083 single base substitution C T upstream_gene_variant RECA-EU 4 152153262 152153262 single base substitution G A intron_variant RECA-EU 4 152153262 152153262 single base substitution G A upstream_gene_variant RECA-EU 4 152153444 152153444 single base substitution G C intron_variant RECA-EU 4 152153444 152153444 single base substitution G C upstream_gene_variant RECA-EU 4 152155891 152155891 single base substitution T G intron_variant RECA-EU 4 152155892 152155892 single base substitution T G intron_variant RECA-EU 4 152155893 152155893 single base substitution T G intron_variant RECA-EU 4 152164018 152164018 single base substitution T C intron_variant RECA-EU 4 152178719 152178719 single base substitution T A intron_variant RECA-EU 4 152185551 152185551 single base substitution G A intron_variant RECA-EU 4 152187724 152187724 single base substitution A T intron_variant RECA-EU 4 152187724 152187724 single base substitution A T upstream_gene_variant RECA-EU 4 152196787 152196787 single base substitution C T intron_variant RECA-EU 4 152207947 152207947 single base substitution T G intron_variant RECA-EU 4 152210145 152210145 single base substitution C A intron_variant RECA-EU 4 152217439 152217439 single base substitution A G intron_variant RECA-EU 4 152222548 152222548 single base substitution T A intron_variant RECA-EU 4 152225073 152225073 single base substitution C A intron_variant RECA-EU 4 152231206 152231206 single base substitution C T intron_variant SKCA-BR 4 152029268 152029269 deletion of <=200bp CT - intron_variant SKCA-BR 4 152029295 152029295 single base substitution G A intron_variant SKCA-BR 4 152032053 152032053 insertion of <=200bp - CA intron_variant SKCA-BR 4 152046288 152046288 single base substitution C A intron_variant SKCA-BR 4 152046288 152046288 single base substitution C A upstream_gene_variant SKCA-BR 4 152046997 152047000 deletion of <=200bp CAAA - intron_variant SKCA-BR 4 152054952 152054952 single base substitution C T downstream_gene_variant SKCA-BR 4 152054952 152054952 single base substitution C T intron_variant SKCA-BR 4 152055507 152055507 single base substitution G A downstream_gene_variant SKCA-BR 4 152055507 152055507 single base substitution G A intron_variant SKCA-BR 4 152056776 152056776 single base substitution C T downstream_gene_variant SKCA-BR 4 152056776 152056776 single base substitution C T intron_variant SKCA-BR 4 152059835 152059837 deletion of <=200bp GTC - intron_variant SKCA-BR 4 152059836 152059840 deletion of <=200bp TCTCA - intron_variant SKCA-BR 4 152059838 152059838 single base substitution T A intron_variant SKCA-BR 4 152060167 152060167 single base substitution G A intron_variant SKCA-BR 4 152060168 152060168 single base substitution G A intron_variant SKCA-BR 4 152066573 152066573 single base substitution T C intron_variant SKCA-BR 4 152066573 152066573 single base substitution T C upstream_gene_variant SKCA-BR 4 152066604 152066604 single base substitution A C intron_variant SKCA-BR 4 152066604 152066604 single base substitution A C upstream_gene_variant SKCA-BR 4 152066619 152066619 single base substitution A C intron_variant SKCA-BR 4 152066619 152066619 single base substitution A C upstream_gene_variant SKCA-BR 4 152066724 152066724 single base substitution C T intron_variant SKCA-BR 4 152066724 152066724 single base substitution C T upstream_gene_variant SKCA-BR 4 152068116 152068116 single base substitution G A intron_variant SKCA-BR 4 152068116 152068116 single base substitution G A upstream_gene_variant SKCA-BR 4 152071392 152071392 single base substitution T C intron_variant SKCA-BR 4 152073119 152073119 single base substitution C T intron_variant SKCA-BR 4 152073340 152073340 single base substitution G A intron_variant SKCA-BR 4 152075104 152075104 insertion of <=200bp - TACTA intron_variant SKCA-BR 4 152075458 152075458 single base substitution G A intron_variant SKCA-BR 4 152075598 152075598 single base substitution A T intron_variant SKCA-BR 4 152076292 152076292 single base substitution G A intron_variant SKCA-BR 4 152076293 152076293 single base substitution T A intron_variant SKCA-BR 4 152078921 152078921 single base substitution G A intron_variant SKCA-BR 4 152082158 152082158 single base substitution G A intron_variant SKCA-BR 4 152085583 152085583 single base substitution G C intron_variant SKCA-BR 4 152087646 152087646 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 4 152087646 152087646 insertion of <=200bp - CT intron_variant SKCA-BR 4 152087646 152087646 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 4 152089547 152089547 insertion of <=200bp - ATTTC downstream_gene_variant SKCA-BR 4 152089547 152089547 insertion of <=200bp - ATTTC intron_variant SKCA-BR 4 152089547 152089547 insertion of <=200bp - ATTTC upstream_gene_variant SKCA-BR 4 152089555 152089555 single base substitution T C downstream_gene_variant SKCA-BR 4 152089555 152089555 single base substitution T C intron_variant SKCA-BR 4 152089555 152089555 single base substitution T C upstream_gene_variant SKCA-BR 4 152096853 152096853 single base substitution C A downstream_gene_variant SKCA-BR 4 152096853 152096853 single base substitution C A intron_variant SKCA-BR 4 152096853 152096853 single base substitution C A splice_region_variant SKCA-BR 4 152096853 152096853 single base substitution C A upstream_gene_variant SKCA-BR 4 152096857 152096857 single base substitution T A downstream_gene_variant SKCA-BR 4 152096857 152096857 single base substitution T A intron_variant SKCA-BR 4 152096857 152096857 single base substitution T A upstream_gene_variant SKCA-BR 4 152096984 152096984 single base substitution G A downstream_gene_variant SKCA-BR 4 152096984 152096984 single base substitution G A intron_variant SKCA-BR 4 152096984 152096984 single base substitution G A upstream_gene_variant SKCA-BR 4 152098038 152098038 single base substitution G A 5_prime_UTR_variant SKCA-BR 4 152098038 152098038 single base substitution G A exon_variant SKCA-BR 4 152098038 152098038 single base substitution G A upstream_gene_variant SKCA-BR 4 152098477 152098477 single base substitution G A intron_variant SKCA-BR 4 152098477 152098477 single base substitution G A upstream_gene_variant SKCA-BR 4 152099130 152099130 single base substitution G A intron_variant SKCA-BR 4 152099130 152099130 single base substitution G A upstream_gene_variant SKCA-BR 4 152100138 152100138 single base substitution C T intron_variant SKCA-BR 4 152100138 152100138 single base substitution C T upstream_gene_variant SKCA-BR 4 152101837 152101837 single base substitution T C intron_variant SKCA-BR 4 152102081 152102081 insertion of <=200bp - ATT intron_variant SKCA-BR 4 152103564 152103564 single base substitution T C intron_variant SKCA-BR 4 152108334 152108334 single base substitution G A intron_variant SKCA-BR 4 152109895 152109895 single base substitution G A intron_variant SKCA-BR 4 152111991 152111991 single base substitution G A intron_variant SKCA-BR 4 152113766 152113766 single base substitution A C intron_variant SKCA-BR 4 152115448 152115448 single base substitution G A intron_variant SKCA-BR 4 152116549 152116550 deletion of <=200bp AG - intron_variant SKCA-BR 4 152117581 152117581 single base substitution A G intron_variant SKCA-BR 4 152119537 152119537 single base substitution T C intron_variant SKCA-BR 4 152125417 152125417 single base substitution G A intron_variant SKCA-BR 4 152125536 152125536 single base substitution A C intron_variant SKCA-BR 4 152130865 152130865 single base substitution G A intron_variant SKCA-BR 4 152134094 152134094 single base substitution G A intron_variant SKCA-BR 4 152134139 152134139 single base substitution G A intron_variant SKCA-BR 4 152134819 152134819 insertion of <=200bp - AATTT intron_variant SKCA-BR 4 152137908 152137908 single base substitution A C intron_variant SKCA-BR 4 152138029 152138047 deletion of <=200bp CTGTGTGTGTGTGTGTGTG - intron_variant SKCA-BR 4 152138535 152138535 single base substitution T C intron_variant SKCA-BR 4 152143807 152143807 insertion of <=200bp - GTC intron_variant SKCA-BR 4 152143819 152143819 insertion of <=200bp - CTCT intron_variant SKCA-BR 4 152143820 152143820 insertion of <=200bp - TC intron_variant SKCA-BR 4 152143821 152143821 single base substitution T C intron_variant SKCA-BR 4 152144502 152144502 single base substitution G A intron_variant SKCA-BR 4 152144683 152144683 single base substitution C T intron_variant SKCA-BR 4 152155888 152155888 insertion of <=200bp - TTTG intron_variant SKCA-BR 4 152155890 152155890 insertion of <=200bp - TG intron_variant SKCA-BR 4 152155891 152155891 single base substitution T G intron_variant SKCA-BR 4 152155892 152155892 single base substitution T G intron_variant SKCA-BR 4 152155893 152155893 single base substitution T G intron_variant SKCA-BR 4 152157357 152157357 single base substitution G A intron_variant SKCA-BR 4 152157626 152157626 single base substitution G A intron_variant SKCA-BR 4 152159362 152159362 single base substitution G A intron_variant SKCA-BR 4 152165351 152165351 insertion of <=200bp - AAACAAC intron_variant SKCA-BR 4 152165582 152165582 single base substitution G A intron_variant SKCA-BR 4 152166298 152166298 insertion of <=200bp - AAAAATAAAAT intron_variant SKCA-BR 4 152166298 152166298 insertion of <=200bp - AAAAAT intron_variant SKCA-BR 4 152166320 152166321 deletion of <=200bp AT - intron_variant SKCA-BR 4 152167278 152167278 single base substitution G A intron_variant SKCA-BR 4 152172328 152172332 deletion of <=200bp GTTCT - intron_variant SKCA-BR 4 152175925 152175925 single base substitution T C intron_variant SKCA-BR 4 152177273 152177273 single base substitution G T intron_variant SKCA-BR 4 152177797 152177797 single base substitution G T intron_variant SKCA-BR 4 152177813 152177813 single base substitution G A intron_variant SKCA-BR 4 152178966 152178967 deletion of <=200bp AG - intron_variant SKCA-BR 4 152178971 152178971 single base substitution G A intron_variant SKCA-BR 4 152179039 152179039 single base substitution G A intron_variant SKCA-BR 4 152179192 152179192 single base substitution C T intron_variant SKCA-BR 4 152179222 152179222 single base substitution T A intron_variant SKCA-BR 4 152184327 152184328 deletion of <=200bp CA - intron_variant SKCA-BR 4 152186090 152186090 single base substitution G A intron_variant SKCA-BR 4 152186284 152186284 single base substitution A T intron_variant SKCA-BR 4 152186722 152186722 insertion of <=200bp - TTTTC intron_variant SKCA-BR 4 152186723 152186723 insertion of <=200bp - TTTC intron_variant SKCA-BR 4 152186726 152186726 single base substitution T C intron_variant SKCA-BR 4 152187253 152187253 single base substitution G T exon_variant SKCA-BR 4 152187253 152187253 single base substitution G T intron_variant SKCA-BR 4 152188321 152188325 deletion of <=200bp AAAAT - intron_variant SKCA-BR 4 152188321 152188325 deletion of <=200bp AAAAT - upstream_gene_variant SKCA-BR 4 152188322 152188325 deletion of <=200bp AAAT - intron_variant SKCA-BR 4 152188322 152188325 deletion of <=200bp AAAT - upstream_gene_variant SKCA-BR 4 152195491 152195491 single base substitution G C intron_variant SKCA-BR 4 152196478 152196478 single base substitution A C intron_variant SKCA-BR 4 152198589 152198589 single base substitution C T intron_variant SKCA-BR 4 152203026 152203026 single base substitution T G intron_variant SKCA-BR 4 152203066 152203066 single base substitution C A intron_variant SKCA-BR 4 152203360 152203360 single base substitution G A intron_variant SKCA-BR 4 152204681 152204682 deletion of <=200bp TA - intron_variant SKCA-BR 4 152205195 152205195 single base substitution G A intron_variant SKCA-BR 4 152206646 152206646 single base substitution A T intron_variant SKCA-BR 4 152207335 152207336 deletion of <=200bp AG - intron_variant SKCA-BR 4 152209019 152209019 single base substitution G A intron_variant SKCA-BR 4 152214354 152214354 single base substitution G T intron_variant SKCA-BR 4 152217030 152217030 single base substitution C A intron_variant SKCA-BR 4 152217516 152217516 single base substitution G A intron_variant SKCA-BR 4 152221051 152221051 single base substitution G A intron_variant SKCA-BR 4 152228642 152228642 single base substitution A G intron_variant SKCA-BR 4 152230583 152230583 single base substitution G A intron_variant SKCA-BR 4 152235073 152235073 single base substitution G A intron_variant SKCA-BR 4 152235768 152235768 single base substitution C A intron_variant SKCA-BR 4 152235783 152235783 single base substitution C T intron_variant SKCA-BR 4 152235939 152235939 single base substitution C A intron_variant SKCA-BR 4 152246362 152246362 single base substitution T C intron_variant SKCA-BR 4 152248403 152248403 single base substitution T G upstream_gene_variant SKCA-BR 4 152248633 152248633 single base substitution G A upstream_gene_variant SKCA-BR 4 152249179 152249179 single base substitution C T upstream_gene_variant SKCA-BR 4 152250832 152250832 single base substitution G A upstream_gene_variant SKCA-BR 4 152251388 152251388 single base substitution G A upstream_gene_variant SKCM-US 4 152024151 152024151 single base substitution C T exon_variant SKCM-US 4 152025418 152025418 single base substitution T C intron_variant SKCM-US 4 152049406 152049406 single base substitution C T exon_variant SKCM-US 4 152049406 152049406 single base substitution C T missense_variant E633K 1897G>A SKCM-US 4 152049406 152049406 single base substitution C T missense_variant E669K 2005G>A SKCM-US 4 152049406 152049406 single base substitution C T missense_variant E692K 2074G>A SKCM-US 4 152053487 152053487 single base substitution G A exon_variant SKCM-US 4 152053487 152053487 single base substitution G A missense_variant S597F 1790C>T SKCM-US 4 152053487 152053487 single base substitution G A missense_variant S633F 1898C>T SKCM-US 4 152053487 152053487 single base substitution G A missense_variant S656F 1967C>T SKCM-US 4 152053519 152053519 single base substitution C T exon_variant SKCM-US 4 152053519 152053519 single base substitution C T synonymous_variant L586L 1758G>A SKCM-US 4 152053519 152053519 single base substitution C T synonymous_variant L622L 1866G>A SKCM-US 4 152053519 152053519 single base substitution C T synonymous_variant L645L 1935G>A SKCM-US 4 152054201 152054201 single base substitution C A downstream_gene_variant SKCM-US 4 152054201 152054201 single base substitution C A exon_variant SKCM-US 4 152054201 152054201 single base substitution C A missense_variant G576C 1726G>T SKCM-US 4 152054201 152054201 single base substitution C A missense_variant G612C 1834G>T SKCM-US 4 152054201 152054201 single base substitution C A missense_variant G635C 1903G>T SKCM-US 4 152054327 152054327 single base substitution A T downstream_gene_variant SKCM-US 4 152054327 152054327 single base substitution A T exon_variant SKCM-US 4 152054327 152054327 single base substitution A T missense_variant S534T 1600T>A SKCM-US 4 152054327 152054327 single base substitution A T missense_variant S570T 1708T>A SKCM-US 4 152054327 152054327 single base substitution A T missense_variant S593T 1777T>A SKCM-US 4 152058918 152058918 single base substitution A G exon_variant SKCM-US 4 152058918 152058918 single base substitution A G missense_variant I482T 1445T>C SKCM-US 4 152058918 152058918 single base substitution A G missense_variant I518T 1553T>C SKCM-US 4 152058918 152058918 single base substitution A G missense_variant I541T 1622T>C SKCM-US 4 152069112 152069112 single base substitution G A exon_variant SKCM-US 4 152069112 152069112 single base substitution G A missense_variant R366C 1096C>T SKCM-US 4 152069112 152069112 single base substitution G A missense_variant R402C 1204C>T SKCM-US 4 152069112 152069112 single base substitution G A upstream_gene_variant SKCM-US 4 152069133 152069133 single base substitution G A exon_variant SKCM-US 4 152069133 152069133 single base substitution G A stop_gained Q359* 1075C>T SKCM-US 4 152069133 152069133 single base substitution G A stop_gained Q395* 1183C>T SKCM-US 4 152069133 152069133 single base substitution G A upstream_gene_variant SKCM-US 4 152069194 152069194 single base substitution C T exon_variant SKCM-US 4 152069194 152069194 single base substitution C T synonymous_variant Q338Q 1014G>A SKCM-US 4 152069194 152069194 single base substitution C T synonymous_variant Q374Q 1122G>A SKCM-US 4 152069194 152069194 single base substitution C T upstream_gene_variant SKCM-US 4 152095957 152095957 single base substitution G A downstream_gene_variant SKCM-US 4 152095957 152095957 single base substitution G A exon_variant SKCM-US 4 152095957 152095957 single base substitution G A missense_variant P187S 559C>T SKCM-US 4 152096067 152096067 single base substitution G A downstream_gene_variant SKCM-US 4 152096067 152096067 single base substitution G A exon_variant SKCM-US 4 152096067 152096067 single base substitution G A missense_variant S150F 449C>T SKCM-US 4 152096098 152096098 single base substitution G A downstream_gene_variant SKCM-US 4 152096098 152096098 single base substitution G A exon_variant SKCM-US 4 152096098 152096098 single base substitution G A missense_variant P140S 418C>T SKCM-US 4 152096188 152096188 single base substitution C T downstream_gene_variant SKCM-US 4 152096188 152096188 single base substitution C T exon_variant SKCM-US 4 152096188 152096188 single base substitution C T missense_variant G110S 328G>A SKCM-US 4 152200991 152200991 single base substitution G A intron_variant SKCM-US 4 152203360 152203360 single base substitution G A intron_variant SKCM-US 4 152204317 152204317 single base substitution A G intron_variant SKCM-US 4 152204347 152204347 single base substitution C T intron_variant SKCM-US 4 152204388 152204388 single base substitution G A intron_variant SKCM-US 4 152212270 152212270 single base substitution G A intron_variant SKCM-US 4 152212279 152212279 single base substitution G A intron_variant STAD-US 4 152024153 152024153 single base substitution G A exon_variant STAD-US 4 152024210 152024210 single base substitution T C exon_variant STAD-US 4 152065098 152065098 single base substitution G A exon_variant STAD-US 4 152065098 152065098 single base substitution G A synonymous_variant I413I 1239C>T STAD-US 4 152065098 152065098 single base substitution G A synonymous_variant I449I 1347C>T STAD-US 4 152065098 152065098 single base substitution G A synonymous_variant I472I 1416C>T STAD-US 4 152069114 152069114 deletion of <=200bp G - exon_variant STAD-US 4 152069114 152069114 deletion of <=200bp G - frameshift_variant P365 STAD-US 4 152069114 152069114 deletion of <=200bp G - frameshift_variant P401 STAD-US 4 152069114 152069114 deletion of <=200bp G - upstream_gene_variant STAD-US 4 152069209 152069209 single base substitution A T exon_variant STAD-US 4 152069209 152069209 single base substitution A T synonymous_variant S333S 999T>A STAD-US 4 152069209 152069209 single base substitution A T synonymous_variant S369S 1107T>A STAD-US 4 152069209 152069209 single base substitution A T upstream_gene_variant STAD-US 4 152086764 152086764 single base substitution C T downstream_gene_variant STAD-US 4 152086764 152086764 single base substitution C T exon_variant STAD-US 4 152086764 152086764 single base substitution C T intron_variant STAD-US 4 152086764 152086764 single base substitution C T missense_variant R260Q 779G>A STAD-US 4 152201017 152201017 insertion of <=200bp - GGCAG intron_variant STAD-US 4 152201019 152201019 insertion of <=200bp - CAGGT intron_variant STAD-US 4 152203364 152203364 single base substitution C T intron_variant STAD-US 4 152203538 152203538 single base substitution G A intron_variant STAD-US 4 152212379 152212379 single base substitution A C intron_variant STAD-US 4 152212409 152212409 single base substitution C T intron_variant UCEC-US 4 152022212 152022212 single base substitution C A downstream_gene_variant UCEC-US 4 152049327 152049327 single base substitution C T exon_variant UCEC-US 4 152049327 152049327 single base substitution C T missense_variant C659Y 1976G>A UCEC-US 4 152049327 152049327 single base substitution C T missense_variant C695Y 2084G>A UCEC-US 4 152049327 152049327 single base substitution C T missense_variant C718Y 2153G>A UCEC-US 4 152054227 152054227 single base substitution T C downstream_gene_variant UCEC-US 4 152054227 152054227 single base substitution T C exon_variant UCEC-US 4 152054227 152054227 single base substitution T C missense_variant E567G 1700A>G UCEC-US 4 152054227 152054227 single base substitution T C missense_variant E603G 1808A>G UCEC-US 4 152054227 152054227 single base substitution T C missense_variant E626G 1877A>G UCEC-US 4 152054264 152054264 single base substitution G A downstream_gene_variant UCEC-US 4 152054264 152054264 single base substitution G A exon_variant UCEC-US 4 152054264 152054264 single base substitution G A stop_gained R555* 1663C>T UCEC-US 4 152054264 152054264 single base substitution G A stop_gained R591* 1771C>T UCEC-US 4 152054264 152054264 single base substitution G A stop_gained R614* 1840C>T UCEC-US 4 152065391 152065391 single base substitution G A exon_variant UCEC-US 4 152065391 152065391 single base substitution G A intron_variant UCEC-US 4 152065391 152065391 single base substitution G A missense_variant P431L 1292C>T UCEC-US 4 152069121 152069121 single base substitution G A exon_variant UCEC-US 4 152069121 152069121 single base substitution G A synonymous_variant L363L 1087C>T UCEC-US 4 152069121 152069121 single base substitution G A synonymous_variant L399L 1195C>T UCEC-US 4 152069121 152069121 single base substitution G A upstream_gene_variant UCEC-US 4 152080409 152080409 single base substitution C T exon_variant UCEC-US 4 152080409 152080409 single base substitution C T missense_variant E264K 790G>A UCEC-US 4 152080409 152080409 single base substitution C T missense_variant E300K 898G>A UCEC-US 4 152096028 152096028 single base substitution G T downstream_gene_variant UCEC-US 4 152096028 152096028 single base substitution G T exon_variant UCEC-US 4 152096028 152096028 single base substitution G T missense_variant P163H 488C>A UCEC-US 4 152096155 152096155 single base substitution C A downstream_gene_variant UCEC-US 4 152096155 152096155 single base substitution C A exon_variant UCEC-US 4 152096155 152096155 single base substitution C A stop_gained G121* 361G>T UCEC-US 4 152096383 152096383 single base substitution T C downstream_gene_variant UCEC-US 4 152096383 152096383 single base substitution T C exon_variant UCEC-US 4 152096383 152096383 single base substitution T C missense_variant K45E 133A>G UCEC-US 4 152096448 152096448 single base substitution T C downstream_gene_variant UCEC-US 4 152096448 152096448 single base substitution T C missense_variant Q23R 68A>G UCEC-US 4 152096448 152096448 single base substitution T C upstream_gene_variant UCEC-US 4 152201052 152201052 single base substitution T G intron_variant UCEC-US 4 152204388 152204388 single base substitution G T intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-ER-A1A1-06 COSM3600891 c.409C>T p.P137S Substitution - Missense 4:151174946-151174946 - TCGA-BH-A18P-01 COSM447489 c.1651G>A p.D551N Substitution - Missense 4:151135129-151135129 - TCGA-KK-A6DY-01 COSM4879300 c.2181G>A p.P727P Substitution - coding silent 4:151127684-151127684 - LUAD-5V8LT COSM402520 c.1618A>G p.I540V Substitution - Missense 4:151137761-151137761 - OSCC-GB_01070111 COSM4889409 c.1132G>C p.A378P Substitution - Missense 4:151148023-151148023 - CSCC-20-T COSM3127740 c.601G>A p.D201N Substitution - Missense 4:151174754-151174754 - Patient_5 COSM3600891 c.409C>T p.P137S Substitution - Missense 4:151174946-151174946 - T3058 COSM4725652 c.2318C>T p.S773F Substitution - Missense 4:151122137-151122137 - TCGA-60-2726-01 COSM732409 c.1597A>G p.N533D Substitution - Missense 4:151137782-151137782 - TCGA-DA-A1IC-06 COSM3600882 c.1958C>T p.S653F Substitution - Missense 4:151132335-151132335 - D22 COSM5007411 c.113C>G p.S38* Substitution - Nonsense 4:151175242-151175242 - D01 COSM5544220 c.987C>T p.T329T Substitution - coding silent 4:151148168-151148168 - TCGA-BP-4331-01 COSM3365522 c.2177T>A p.V726E Substitution - Missense 4:151127688-151127688 - TCGA-EE-A2A6-06 COSM3600881 c.2065G>A p.E689K Substitution - Missense 4:151128254-151128254 - SNUH_G76_S1 COSM4417157 c.1217T>C p.L406P Substitution - Missense 4:151147938-151147938 - TCGA-BR-8680-01 COSM4122738 c.770G>A p.R257Q Substitution - Missense 4:151165612-151165612 - TCGA-EE-A3JD-06 COSM4394201 c.440C>T p.S147F Substitution - Missense 4:151174915-151174915 - TCGA-AA-3663-01 COSM1427534 c.976A>G p.N326D Substitution - Missense 4:151148179-151148179 - PD8631a COSM3720341 c.1455C>T p.H485H Substitution - coding silent 4:151139836-151139836 - sysucc-1397T COSM5474675 c.1835G>A p.G612D Substitution - Missense 4:151133108-151133108 - NB-0230 COSM1287879 c.1499T>C p.L500P Substitution - Missense 4:151139792-151139792 - TCGA-E9-A1NA-01 COSM1485730 c.2284G>T p.D762Y Substitution - Missense 4:151122171-151122171 - TCGA-AX-A0J1-01 COSM1052043 c.2144G>A p.C715Y Substitution - Missense 4:151128175-151128175 - 2521243 COSM5886360 c.1624C>T p.P542S Substitution - Missense 4:151137755-151137755 - CSCC-29-T COSM4530170 c.1663G>A p.G555R Substitution - Missense 4:151135117-151135117 - LS411 COSM3127735 c.1193delC p.P398fs*43 Deletion - Frameshift 4:151147962-151147962 - N608T COSM236566 c.113C>T p.S38L Substitution - Missense 4:151175242-151175242 - 1N57-VS-1T57 COSM4977428 c.1969A>T p.S657C Substitution - Missense 4:151128350-151128350 - BD72T COSM5512078 c.28A>G p.I10V Substitution - Missense 4:151175327-151175327 - CHC892T COSM4796901 c.730G>A p.A244T Substitution - Missense 4:151165652-151165652 - sysucc-809T COSM5468254 c.1648-5G>A p.? Unknown 4:151135137-151135137 - HCC2998 COSM3127736 c.1118A>C p.K373T Substitution - Missense 4:151148037-151148037 - TCGA-HU-A4H3-01 COSM4122737 c.1098T>A p.S366S Substitution - coding silent 4:151148057-151148057 - TCGA-EE-A2A2-06 COSM3600883 c.1926G>A p.L642L Substitution - coding silent 4:151132367-151132367 - TCGA-EE-A3J5-06 COSM3600885 c.1768T>A p.S590T Substitution - Missense 4:151133175-151133175 - CSCC-49-T COSM4544883 c.356G>A p.R119K Substitution - Missense 4:151174999-151174999 - TCGA-AX-A063-01 COSM1052045 c.1868A>G p.E623G Substitution - Missense 4:151133075-151133075 - RK087_C01 COSM3702530 c.1533G>T p.L511F Substitution - Missense 4:151137846-151137846 - CSCC-49-T COSM4559645 c.804G>A p.E268E Substitution - coding silent 4:151159342-151159342 - Au4 COSM5604856 c.429G>A p.K143K Substitution - coding silent 4:151174926-151174926 - TCGA-D8-A1XK-01 COSM3825342 c.795T>C p.C265C Substitution - coding silent 4:151159351-151159351 - CHC892T COSM4960706 c.320G>A p.G107D Substitution - Missense 4:151175035-151175035 - pfg008T COSM4762651 c.557A>G p.N186S Substitution - Missense 4:151174798-151174798 - TCGA-EE-A2A2-06 COSM3600884 c.1894G>T p.G632C Substitution - Missense 4:151133049-151133049 - TCGA-GF-A6C9-06 COSM4902171 c.319G>A p.G107S Substitution - Missense 4:151175036-151175036 - SNUH_G26_S1 COSM4002963 c.1308G>A p.G436G Substitution - coding silent 4:151144045-151144045 - TCGA-AD-6889-01 COSM1427531 c.1895G>T p.G632V Substitution - Missense 4:151133048-151133048 - 2293782 COSM4609041 c.272G>T p.G91V Substitution - Missense 4:151175083-151175083 - AOCS-139-12-5 COSM4138067 c.1124G>T p.S375I Substitution - Missense 4:151148031-151148031 - SWE-54B COSM1178551 c.1166T>C p.F389S Substitution - Missense 4:151147989-151147989 - TCGA-BS-A0UV-01 COSM1052049 c.1283C>T p.P428L Substitution - Missense 4:151144239-151144239 - TCGA-06-0241-01 COSM2151149 c.311C>G p.P104R Substitution - Missense 4:151175044-151175044 - C0064T COSM4155012 c.2357T>G p.I786S Substitution - Missense 4:151122098-151122098 - TCGA-AN-A046-01 COSM3825343 c.662C>A p.S221Y Substitution - Missense 4:151174693-151174693 - TCGA-CK-4952-01 COSM1427533 c.1304G>A p.R435H Substitution - Missense 4:151144049-151144049 - CSCC-47-T COSM4537599 c.234G>A p.K78K Substitution - coding silent 4:151175121-151175121 - TCGA-DK-A2HX-01 COSM1309805 c.1261G>A p.E421K Substitution - Missense 4:151144261-151144261 - CSCC-62-T COSM4463187 c.118C>T p.P40S Substitution - Missense 4:151175237-151175237 - CSCC-49-T COSM4566890 c.493_494CC>TT p.P165F Substitution - Missense 4:151174861-151174862 - TCGA-ED-A7PZ-01 COSM4916934 c.885T>A p.N295K Substitution - Missense 4:151159261-151159261 - QC2-34-T2 COSM5654723 c.89A>T p.K30M Substitution - Missense 4:151175266-151175266 - LUAD-RT-S01699 COSM378419 c.284T>C p.V95A Substitution - Missense 4:151175071-151175071 - TCGA-B6-A0X0-01 COSM447491 c.35C>A p.S12Y Substitution - Missense 4:151175320-151175320 - TCGA-G4-6628-01 COSM1427535 c.28A>T p.I10F Substitution - Missense 4:151175327-151175327 - CSCC-29-T COSM4468632 c.1544C>T p.S515F Substitution - Missense 4:151137835-151137835 - TCGA-AP-A0LF-01 COSM1052055 c.881G>C p.S294T Substitution - Missense 4:151159265-151159265 - TCGA-MH-A55Z-01 COSM3993493 c.191A>T p.E64V Substitution - Missense 4:151175164-151175164 - TCGA-CC-5262-01 COSM4919172 c.1559A>T p.Y520F Substitution - Missense 4:151137820-151137820 - TCGA-A2-A4RW-01 COSM3825341 c.1738A>G p.I580V Substitution - Missense 4:151133205-151133205 - CN-AML-NR-08-Dx COSM4417157 c.1217T>C p.L406P Substitution - Missense 4:151147938-151147938 - T3503 COSM4725653 c.2115_2116insG p.I706fs*13 Insertion - Frameshift 4:151128203-151128204 - HCC2998 COSM3127739 c.728G>A p.R243Q Substitution - Missense 4:151165654-151165654 - PD13307a COSM5773437 c.2281G>C p.D761H Substitution - Missense 4:151122174-151122174 - TCGA-DK-A2HX-01 COSM1309806 c.686-1G>A p.? Unknown 4:151165697-151165697 - TCGA-DK-A3WW-01 COSM3775601 c.77C>G p.S26* Substitution - Nonsense 4:151175278-151175278 - ME021T COSM225852 c.142G>A p.G48R Substitution - Missense 4:151175213-151175213 - CHC892T COSM4960706 c.320G>A p.G107D Substitution - Missense 4:151175035-151175035 - CN-AML-08-T COSM4417157 c.1217T>C p.L406P Substitution - Missense 4:151147938-151147938 - TCGA-EE-A2MT-06 COSM3600887 c.1195C>T p.R399C Substitution - Missense 4:151147960-151147960 - TCGA-AP-A059-01 COSM1052051 c.1186C>T p.L396L Substitution - coding silent 4:151147969-151147969 - T3301 COSM4725654 c.1229A>T p.Y410F Substitution - Missense 4:151147926-151147926 - 2492730 COSM5729210 c.1820G>A p.R607K Substitution - Missense 4:151133123-151133123 - CSCC-38-T COSM4478259 c.2214C>T p.F738F Substitution - coding silent 4:151127651-151127651 - TCGA-66-2785-01 COSM732410 c.1741G>T p.G581W Substitution - Missense 4:151133202-151133202 - TCGA-BR-6452-01 COSM4122736 c.1407C>T p.I469I Substitution - coding silent 4:151143946-151143946 - TCGA-EY-A1GS-01 COSM1052053 c.889G>A p.E297K Substitution - Missense 4:151159257-151159257 - 2250204 COSM5030054 c.1663G>T p.G555* Substitution - Nonsense 4:151135117-151135117 - CHC1704T COSM4803904 c.502G>T p.A168S Substitution - Missense 4:151174853-151174853 - TCGA-EE-A3JI-06 COSM3600890 c.550C>T p.P184S Substitution - Missense 4:151174805-151174805 - CPCG0047-F1 COSM4880173 c.2065G>C p.E689Q Substitution - Missense 4:151128254-151128254 - TCGA-A2-A0EO-01 COSM447490 c.710C>T p.T237I Substitution - Missense 4:151165672-151165672 - T3298 COSM4725655 c.642G>A p.S214S Substitution - coding silent 4:151174713-151174713 - TCGA-AA-3510-01 COSM1052047 c.1831C>T p.R611* Substitution - Nonsense 4:151133112-151133112 - ME001T COSM221701 c.2221G>A p.E741K Substitution - Missense 4:151127644-151127644 - C086 COSM5538873 c.1763G>C p.S588T Substitution - Missense 4:151133180-151133180 - T207 COSM4725656 c.351G>A p.P117P Substitution - coding silent 4:151175004-151175004 - TCGA-AP-A051-01 COSM1052063 c.59A>G p.Q20R Substitution - Missense 4:151175296-151175296 - Pat_14_B COSM5865876 c.269C>T p.A90V Substitution - Missense 4:151175086-151175086 - 43T COSM107793 c.958T>C p.L320L Substitution - coding silent 4:151149510-151149510 - TCGA-25-2409-01 COSM72625 c.2161A>C p.S721R Substitution - Missense 4:151127704-151127704 - sysucc-882T COSM5447597 c.501C>T p.L167L Substitution - coding silent 4:151174854-151174854 - TCGA-FS-A1ZA-06 COSM3600889 c.1113G>A p.Q371Q Substitution - coding silent 4:151148042-151148042 - LIM2551 COSM4614013 c.551delC p.P184fs*45 Deletion - Frameshift 4:151174804-151174804 - Pat_41_B COSM5865873 c.1208G>A p.G403E Substitution - Missense 4:151147947-151147947 - Pat_63_B COSM5865872 c.1381G>A p.V461I Substitution - Missense 4:151143972-151143972 - SNUH_G76_S1 COSM4002963 c.1308G>A p.G436G Substitution - coding silent 4:151144045-151144045 - Pat_02_B COSM5865874 c.563delC p.P188fs*41 Deletion - Frameshift 4:151174792-151174792 - BD236T COSM1186674 c.1727G>A p.R576Q Substitution - Missense 4:151133216-151133216 - YUPAT COSM1695074 c.2014G>A p.E672K Substitution - Missense 4:151128305-151128305 - sysucc-657T COSM5459940 c.1168A>G p.K390E Substitution - Missense 4:151147987-151147987 - TCGA-EX-A3L1-01 COSM4849003 c.1795G>C p.E599Q Substitution - Missense 4:151133148-151133148 - YULONE COSM5400620 c.1044G>T p.K348N Substitution - Missense 4:151148111-151148111 - TCGA-Q1-A73O-01 COSM4835749 c.1430G>C p.R477T Substitution - Missense 4:151143923-151143923 - PD11345a COSM5797207 c.694C>T p.Q232* Substitution - Nonsense 4:151165688-151165688 - TCGA-18-3409-01 COSM732408 c.1192C>T p.P398S Substitution - Missense 4:151147963-151147963 - TCGA-EE-A182-06 COSM3600888 c.1174C>T p.Q392* Substitution - Nonsense 4:151147981-151147981 - TCGA-BS-A0UV-01 COSM1052059 c.352G>T p.G118* Substitution - Nonsense 4:151175003-151175003 - OSCC-GB_01300111 COSM5953719 c.685+3G>T p.? Unknown 4:151174667-151174667 - LC_S12 COSM1186675 c.1045C>G p.L349V Substitution - Missense 4:151148110-151148110 - T2269 COSM4122738 c.770G>A p.R257Q Substitution - Missense 4:151165612-151165612 - CSCC-7-T COSM4562210 c.907G>A p.E303K Substitution - Missense 4:151149561-151149561 - PT27 COSM5905594 c.2050C>T p.R684W Substitution - Missense 4:151128269-151128269 - TCGA-EJ-7782-01 COSM3783789 c.1910G>A p.S637N Substitution - Missense 4:151132383-151132383 - ESCC_BICR_040T COSM5430122 c.1838G>C p.R613T Substitution - Missense 4:151133105-151133105 - TCGA-F5-6814-01 COSM3428221 c.879C>T p.L293L Substitution - coding silent 4:151159267-151159267 - ESCC_33 COSM5628320 c.1528G>A p.D510N Substitution - Missense 4:151137851-151137851 - TCGA-EP-A2KA-01 COSM4917457 c.1504G>A p.D502N Substitution - Missense 4:151139787-151139787 - CSCC-29-T COSM4473619 c.1853C>T p.P618L Substitution - Missense 4:151133090-151133090 - 274T COSM1725055 c.1193_1194insC p.R399fs*11 Insertion - Frameshift 4:151147961-151147962 - TCGA-EE-A2GC-06 COSM3600886 c.1613T>C p.I538T Substitution - Missense 4:151137766-151137766 - HCC2998 COSM4631750 c.2338T>G p.Y780D Substitution - Missense 4:151122117-151122117 - CHC1704T COSM4803904 c.502G>T p.A168S Substitution - Missense 4:151174853-151174853 - PT45 COSM5927353 c.1302G>A p.K434K Substitution - coding silent 4:151144220-151144220 - TCGA-BT-A20O-01 COSM420175 c.1353G>C p.E451D Substitution - Missense 4:151144000-151144000 - ESO-874 COSM1265490 c.2240C>T p.S747F Substitution - Missense 4:151127625-151127625 - Pat_14_B COSM5865875 c.514C>T p.Q172* Substitution - Nonsense 4:151174841-151174841 - TCGA-F4-6570-01 COSM1427532 c.1617C>T p.G539G Substitution - coding silent 4:151137762-151137762 - TCGA-18-3419-01 COSM732406 c.591G>T p.L197F Substitution - Missense 4:151174764-151174764 - TCGA-BS-A0UV-01 COSM1052061 c.124A>G p.K42E Substitution - Missense 4:151175231-151175231 - LUAD-F00162 COSM391678 c.1119_1120insA p.Q374fs*3 Insertion - Frameshift 4:151148035-151148036 - T4 COSM5344631 c.411G>A p.P137P Substitution - coding silent 4:151174944-151174944 - TCGA-AP-A059-01 COSM1052057 c.479C>A p.P160H Substitution - Missense 4:151174876-151174876 - CHC892T COSM4796901 c.730G>A p.A244T Substitution - Missense 4:151165652-151165652 - TCGA-AP-A056-01 COSM1052047 c.1831C>T p.R611* Substitution - Nonsense 4:151133112-151133112 - LC_C6 COSM1186674 c.1727G>A p.R576Q Substitution - Missense 4:151133216-151133216 - TCGA-06-0241 COSM2151149 c.311C>G p.P104R Substitution - Missense 4:151175044-151175044 - DN120A6 COSM5797207 c.694C>T p.Q232* Substitution - Nonsense 4:151165688-151165688 - TCGA-04-1369-01 COSM1328659 c.530A>T p.K177M Substitution - Missense 4:151174825-151174825 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.567725 4q31.3 608674

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.1-45427T>C 4 152141942 CLL A G Missense p.I541T c.1622T>C 4 152058918 CM A G Missense p.L503P c.1508T>C 4 152060944 NB A T Missense p.S593T c.1777T>A 4 152054327 CM A T Missense p.V729E c.2186T>A 4 152048840 RCCC C A 3-UTRSNV . c.2370+3G>T 4 152043243 LUAD C A Missense p.D765Y c.2293G>T 4 152043323 BRCA C A Missense p.G635C c.1903G>T 4 152054201 CM C A Missense p.L200F c.600G>T 4 152095916 LUSC C A Nonsense p.G432* c.1294G>T 4 152065389 LUAD C G IntronicSNV . c.978-90G>C 4 152069428 NSCLC C G Missense p.E454D c.1362G>C 4 152065152 BLCA C T IntronicSNV . c.695-60G>A 4 152086908 CM C T Missense p.E300K c.898G>A 4 152080409 UCEC C T Missense p.E424K c.1270G>A 4 152065413 BLCA C T Missense p.E664K c.1990G>A 4 152049490 LUAD C T Missense p.E692K c.2074G>A 4 152049406 CM C T Missense p.E744K c.2230G>A 4 152048796 CM C T Missense p.G51R c.151G>A 4 152096365 CM C T SpliceAcceptorSNV . c.695-1G>A 4 152086849 BLCA C T Synonymous p.L645L c.1935G>A 4 152053519 CM C T Synonymous p.P730P c.2190G>A 4 152048836 PRAD C T Synonymous p.Q374Q c.1122G>A 4 152069194 CM G A Missense p.P140S c.418C>T 4 152096098 CM G A Missense p.P187S c.559C>T 4 152095957 CM G A Missense p.R402C c.1204C>T 4 152069112 CM G A Missense p.S150F c.449C>T 4 152096067 CM G A Missense p.S656F c.1967C>T 4 152053487 CM G A Missense p.S750F c.2249C>T 4 152048777 ESCA G A Missense p.T240I c.719C>T 4 152086824 BRCA G A Nonsense p.Q336* c.1006C>T 4 152069310 LUAD G A Nonsense p.Q395* c.1183C>T 4 152069133 CM G A Synonymous p.S487S c.1461C>T 4 152060991 CM G C Missense p.P107R c.320C>G 4 152096196 GBM G - Frameshift p.R169Dfs*63 c.505delC 4 152096011 LUAD G T Missense p.S15Y c.44C>A 4 152096472 BRCA G T Synonymous p.R169R c.505C>A 4 152096011 LUAD T C Missense p.E626G c.1877A>G 4 152054227 UCEC T C Missense p.I203V c.607A>G 4 152095909 LUAD T C Missense p.N536D c.1606A>G 4 152058934 LUSC T G Missense p.S724R c.2170A>C 4 152048856 OV