Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 3 20082225 20082225 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr3:20082225C>G c.256C>G c.(256-258)Ccg>Gcg p.P86A BLCA 3 20082251 20082251 + Silent SNP C C T TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr3:20082251C>T c.282C>T c.(280-282)ctC>ctT p.L94L BLCA 3 20082251 20082251 + Silent SNP C C T TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr3:20082251C>T c.282C>T c.(280-282)ctC>ctT p.L94L BLCA 3 20136888 20136888 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr3:20136888C>T c.564C>T c.(562-564)ttC>ttT p.F188F BLCA 3 20161115 20161115 + Silent SNP G G C TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 g.chr3:20161115G>C c.1176G>C c.(1174-1176)ggG>ggC p.G392G BLCA 3 20161148 20161148 + Silent SNP T T G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 g.chr3:20161148T>G c.1209T>G c.(1207-1209)ctT>ctG p.L403L BLCA 3 20164236 20164236 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr3:20164236G>A c.1353G>A c.(1351-1353)atG>atA p.M451I BLCA 3 20167474 20167474 + Silent SNP C C T TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 g.chr3:20167474C>T c.1491C>T c.(1489-1491)caC>caT p.H497H BLCA 3 20167510 20167510 + Missense_Mutation SNP G G C TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr3:20167510G>C c.1527G>C c.(1525-1527)aaG>aaC p.K509N BLCA 3 20167532 20167532 + Missense_Mutation SNP G G A TCGA-YC-A8S6-01A-31D-A38G-08 TCGA-YC-A8S6-10A-01D-A38J-08 g.chr3:20167532G>A c.1549G>A c.(1549-1551)Ggc>Agc p.G517S BLCA 3 20178502 20178502 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr3:20178502C>T c.1818C>T c.(1816-1818)ctC>ctT p.L606L BLCA 3 20193903 20193903 + Silent SNP C C T TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chr3:20193903C>T c.2385C>T c.(2383-2385)gtC>gtT p.V795V BRCA 3 20113931 20113931 + Missense_Mutation SNP G G A TCGA-E9-A2JS-01A-11D-A17W-09 TCGA-E9-A2JS-10A-01D-A17W-09 g.chr3:20113931G>A c.410G>A c.(409-411)cGg>cAg p.R137Q BRCA 3 20156413 20156413 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:20156413C>G c.1083C>G c.(1081-1083)aaC>aaG p.N361K BRCA 3 20161094 20161094 + Silent SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 g.chr3:20161094C>A c.1155C>A c.(1153-1155)atC>atA p.I385I BRCA 3 20167519 20167519 + Silent SNP G G T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 g.chr3:20167519G>T c.1536G>T c.(1534-1536)ctG>ctT p.L512L BRCA 3 20167543 20167543 + Silent SNP C C T TCGA-A2-A3XS-01A-11D-A22X-09 TCGA-A2-A3XS-10A-01D-A22X-09 g.chr3:20167543C>T c.1560C>T c.(1558-1560)aaC>aaT p.N520N BRCA 3 20167590 20167590 + Missense_Mutation SNP G G A TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 g.chr3:20167590G>A c.1607G>A c.(1606-1608)cGg>cAg p.R536Q BRCA 3 20168950 20168950 + Missense_Mutation SNP G G A TCGA-A2-A3XZ-01A-42D-A23C-09 TCGA-A2-A3XZ-10A-01D-A23C-09 g.chr3:20168950G>A c.1658G>A c.(1657-1659)cGt>cAt p.R553H BRCA 3 20168996 20168996 + Silent SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:20168996C>T c.1704C>T c.(1702-1704)ttC>ttT p.F568F BRCA 3 20189800 20189800 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr3:20189800T>G c.e16+2 BRCA 3 20193909 20193910 + Frame_Shift_Ins INS - - A TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 g.chr3:20193909_20193910insA c.2391_2392insA c.(2392-2394)aatfs p.N798fs CESC 3 20178473 20178473 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr3:20178473C>G c.1789C>G c.(1789-1791)Cac>Gac p.H597D COAD 3 20113890 20113890 + Silent SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr3:20113890C>T c.369C>T c.(367-369)gcC>gcT p.A123A COAD 3 20113913 20113913 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr3:20113913G>A c.392G>A c.(391-393)aGt>aAt p.S131N COAD 3 20136782 20136782 + Missense_Mutation SNP T T C TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr3:20136782T>C c.458T>C c.(457-459)gTg>gCg p.V153A COAD 3 20136782 20136782 + Missense_Mutation SNP T T C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr3:20136782T>C c.458T>C c.(457-459)gTg>gCg p.V153A COAD 3 20156373 20156373 + Splice_Site SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:20156373G>A c.e7-1 COAD 3 20156432 20156432 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:20156432G>A c.1102G>A c.(1102-1104)Gat>Aat p.D368N COAD 3 20167408 20167408 + Silent SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr3:20167408G>A c.1425G>A c.(1423-1425)ctG>ctA p.L475L COAD 3 20167466 20167466 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:20167466G>T c.1483G>T c.(1483-1485)Gaa>Taa p.E495* COAD 3 20167508 20167508 + Missense_Mutation SNP A A G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr3:20167508A>G c.1525A>G c.(1525-1527)Aag>Gag p.K509E COAD 3 20167543 20167543 + Missense_Mutation SNP C C A TCGA-CA-5254-01A-21D-1835-10 TCGA-CA-5254-10A-01D-1835-10 g.chr3:20167543C>A c.1560C>A c.(1558-1560)aaC>aaA p.N520K COAD 3 20167543 20167543 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:20167543C>T c.1560C>T c.(1558-1560)aaC>aaT p.N520N COAD 3 20167577 20167577 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:20167577G>T c.1594G>T c.(1594-1596)Gaa>Taa p.E532* COAD 3 20181725 20181725 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:20181725G>T c.1873G>T c.(1873-1875)Gaa>Taa p.E625* COAD 3 20181759 20181759 + Missense_Mutation SNP A A T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr3:20181759A>T c.1907A>T c.(1906-1908)tAt>tTt p.Y636F COAD 3 20181824 20181824 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:20181824G>A c.1972G>A c.(1972-1974)Gaa>Aaa p.E658K COAD 3 20187848 20187848 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:20187848G>A c.2045G>A c.(2044-2046)cGa>cAa p.R682Q COAD 3 20189912 20189912 + Nonsense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr3:20189912G>A c.2238G>A c.(2236-2238)tgG>tgA p.W746* COAD 3 20194018 20194018 + 3'UTR DEL T T - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr3:20194018delT COAD 3 20194018 20194018 + 3'UTR DEL T T - TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr3:20194018delT COAD 3 20194018 20194018 + 3'UTR DEL T T - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr3:20194018delT COAD 3 20194018 20194018 + 3'UTR DEL T T - TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr3:20194018delT COAD 3 20194018 20194018 + 3'UTR DEL T T - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr3:20194018delT COAD 3 20194018 20194018 + 3'UTR DEL T T - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr3:20194018delT COADREAD 3 20113890 20113890 + Silent SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr3:20113890C>T c.369C>T c.(367-369)gcC>gcT p.A123A COADREAD 3 20113913 20113913 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr3:20113913G>A c.392G>A c.(391-393)aGt>aAt p.S131N COADREAD 3 20136782 20136782 + Missense_Mutation SNP T T C TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr3:20136782T>C c.458T>C c.(457-459)gTg>gCg p.V153A COADREAD 3 20136782 20136782 + Missense_Mutation SNP T T C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr3:20136782T>C c.458T>C c.(457-459)gTg>gCg p.V153A COADREAD 3 20156373 20156373 + Splice_Site SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:20156373G>A c.e7-1 COADREAD 3 20156432 20156432 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:20156432G>A c.1102G>A c.(1102-1104)Gat>Aat p.D368N COADREAD 3 20164271 20164271 + Missense_Mutation SNP A A G TCGA-AF-6136-01A-11D-1826-10 TCGA-AF-6136-10A-01D-1826-10 g.chr3:20164271A>G c.1388A>G c.(1387-1389)gAc>gGc p.D463G COADREAD 3 20167408 20167408 + Silent SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr3:20167408G>A c.1425G>A c.(1423-1425)ctG>ctA p.L475L COADREAD 3 20167466 20167466 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:20167466G>T c.1483G>T c.(1483-1485)Gaa>Taa p.E495* COADREAD 3 20167508 20167508 + Missense_Mutation SNP A A G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr3:20167508A>G c.1525A>G c.(1525-1527)Aag>Gag p.K509E COADREAD 3 20167543 20167543 + Missense_Mutation SNP C C A TCGA-CA-5254-01A-21D-1835-10 TCGA-CA-5254-10A-01D-1835-10 g.chr3:20167543C>A c.1560C>A c.(1558-1560)aaC>aaA p.N520K COADREAD 3 20167543 20167543 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:20167543C>T c.1560C>T c.(1558-1560)aaC>aaT p.N520N COADREAD 3 20167577 20167577 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:20167577G>T c.1594G>T c.(1594-1596)Gaa>Taa p.E532* COADREAD 3 20181725 20181725 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:20181725G>T c.1873G>T c.(1873-1875)Gaa>Taa p.E625* COADREAD 3 20181759 20181759 + Missense_Mutation SNP A A T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr3:20181759A>T c.1907A>T c.(1906-1908)tAt>tTt p.Y636F COADREAD 3 20181824 20181824 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:20181824G>A c.1972G>A c.(1972-1974)Gaa>Aaa p.E658K COADREAD 3 20187847 20187847 + Nonsense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:20187847C>T c.2044C>T c.(2044-2046)Cga>Tga p.R682* COADREAD 3 20187848 20187848 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:20187848G>A c.2045G>A c.(2044-2046)cGa>cAa p.R682Q COADREAD 3 20189912 20189912 + Nonsense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr3:20189912G>A c.2238G>A c.(2236-2238)tgG>tgA p.W746* COADREAD 3 20189935 20189935 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:20189935G>T c.2261G>T c.(2260-2262)aGa>aTa p.R754I COADREAD 3 20194018 20194018 + 3'UTR DEL T T - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr3:20194018delT COADREAD 3 20194018 20194018 + 3'UTR DEL T T - TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr3:20194018delT COADREAD 3 20194018 20194018 + 3'UTR DEL T T - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr3:20194018delT COADREAD 3 20194018 20194018 + 3'UTR DEL T T - TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr3:20194018delT COADREAD 3 20194018 20194018 + 3'UTR DEL T T - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr3:20194018delT COADREAD 3 20194018 20194018 + 3'UTR DEL T T - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr3:20194018delT DLBC 3 20178459 20178459 + Missense_Mutation SNP A A G TCGA-GS-A9TV-01A-11D-A382-10 TCGA-GS-A9TV-10A-01D-A385-10 g.chr3:20178459A>G c.1775A>G c.(1774-1776)cAt>cGt p.H592R ESCA 3 20136842 20136842 + Missense_Mutation SNP C C A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 g.chr3:20136842C>A c.518C>A c.(517-519)aCc>aAc p.T173N ESCA 3 20142821 20142821 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr3:20142821G>T c.712G>T c.(712-714)Gca>Tca p.A238S ESCA 3 20153121 20153121 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 g.chr3:20153121C>T c.885C>T c.(883-885)tgC>tgT p.C295C ESCA 3 20153126 20153126 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 g.chr3:20153126G>T c.890G>T c.(889-891)aGt>aTt p.S297I ESCA 3 20169040 20169040 + Splice_Site SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 g.chr3:20169040A>G c.1748A>G c.(1747-1749)aAg>aGg p.K583R ESCA 3 20178458 20178458 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 g.chr3:20178458C>A c.1774C>A c.(1774-1776)Cat>Aat p.H592N ESCA 3 20193844 20193844 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 g.chr3:20193844C>T c.2326C>T c.(2326-2328)Cgc>Tgc p.R776C HNSC 3 20082194 20082194 + Silent SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 g.chr3:20082194C>T c.225C>T c.(223-225)atC>atT p.I75I HNSC 3 20113935 20113935 + Silent SNP T T C TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr3:20113935T>C c.414T>C c.(412-414)agT>agC p.S138S HNSC 3 20142948 20142948 + Missense_Mutation SNP A A T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 g.chr3:20142948A>T c.839A>T c.(838-840)gAg>gTg p.E280V HNSC 3 20153137 20153137 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr3:20153137T>C c.901T>C c.(901-903)Tac>Cac p.Y301H HNSC 3 20181763 20181763 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 g.chr3:20181763C>G c.1911C>G c.(1909-1911)atC>atG p.I637M KICH 3 20169035 20169035 + Silent SNP A A G TCGA-KL-8328-01A-11D-2310-10 TCGA-KL-8328-11A-01D-2310-10 g.chr3:20169035A>G c.1743A>G c.(1741-1743)caA>caG p.Q581Q KIPAN 3 20153227 20153227 + Missense_Mutation SNP A A G TCGA-BP-4782-01A-02D-1421-08 TCGA-BP-4782-11A-01D-1421-08 g.chr3:20153227A>G c.991A>G c.(991-993)Aaa>Gaa p.K331E KIPAN 3 20153265 20153265 + Silent SNP C C T TCGA-BP-4971-01A-01D-1462-08 TCGA-BP-4971-11A-01D-1462-08 g.chr3:20153265C>T c.1029C>T c.(1027-1029)ctC>ctT p.L343L KIPAN 3 20169035 20169035 + Silent SNP A A G TCGA-KL-8328-01A-11D-2310-10 TCGA-KL-8328-11A-01D-2310-10 g.chr3:20169035A>G c.1743A>G c.(1741-1743)caA>caG p.Q581Q KIPAN 3 20187858 20187858 + Silent SNP C C T TCGA-BQ-5877-01A-11D-1589-08 TCGA-BQ-5877-11A-01D-1589-08 g.chr3:20187858C>T c.2055C>T c.(2053-2055)taC>taT p.Y685Y KIRC 3 20153227 20153227 + Missense_Mutation SNP A A G TCGA-BP-4782-01A-02D-1421-08 TCGA-BP-4782-11A-01D-1421-08 g.chr3:20153227A>G c.991A>G c.(991-993)Aaa>Gaa p.K331E KIRC 3 20153265 20153265 + Silent SNP C C T TCGA-BP-4971-01A-01D-1462-08 TCGA-BP-4971-11A-01D-1462-08 g.chr3:20153265C>T c.1029C>T c.(1027-1029)ctC>ctT p.L343L KIRP 3 20187858 20187858 + Silent SNP C C T TCGA-BQ-5877-01A-11D-1589-08 TCGA-BQ-5877-11A-01D-1589-08 g.chr3:20187858C>T c.2055C>T c.(2053-2055)taC>taT p.Y685Y LAML 3 20164251 20164251 + Silent SNP G G A TCGA-AB-3008-03A-01D-0739-09 TCGA-AB-3008-11A-01D-0739-09 g.chr3:20164251G>A c.1368G>A c.(1366-1368)gaG>gaA p.E456E LIHC 3 20113881 20113881 + Silent SNP C C G TCGA-PD-A5DF-01A-11D-A27I-10 TCGA-PD-A5DF-10A-01D-A27I-10 g.chr3:20113881C>G c.360C>G c.(358-360)ccC>ccG p.P120P LIHC 3 20153102 20153102 + Missense_Mutation SNP G G A TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr3:20153102G>A c.866G>A c.(865-867)tGc>tAc p.C289Y LIHC 3 20156480 20156482 + Splice_Site TNP GGT GGT TTG TCGA-LG-A6GG-01A-11D-A30V-10 TCGA-LG-A6GG-10A-01D-A30V-10 g.chr3:20156480_20156482GGT>TTG c.1150_1150GGT>TTG c.(1150-1152)GGTgt>TTGgtgt p.384_384G>LV LIHC 3 20181810 20181810 + Missense_Mutation SNP G G T TCGA-ED-A7XP-01A-11D-A34Z-10 TCGA-ED-A7XP-10A-01D-A34Z-10 g.chr3:20181810G>T c.1958G>T c.(1957-1959)cGg>cTg p.R653L LUAD 3 20082268 20082268 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 g.chr3:20082268G>A c.299G>A c.(298-300)tGc>tAc p.C100Y LUAD 3 20136892 20136892 + Silent SNP C C T TCGA-69-7764-01A-11D-2167-08 TCGA-69-7764-10A-01D-2167-08 g.chr3:20136892C>T c.568C>T c.(568-570)Cta>Tta p.L190L LUAD 3 20141433 20141433 + Missense_Mutation SNP C C T TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr3:20141433C>T c.656C>T c.(655-657)cCt>cTt p.P219L LUAD 3 20142850 20142850 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr3:20142850G>T c.741G>T c.(739-741)ttG>ttT p.L247F LUAD 3 20142851 20142851 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr3:20142851G>T c.742G>T c.(742-744)Gca>Tca p.A248S LUAD 3 20156408 20156408 + Nonsense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr3:20156408C>T c.1078C>T c.(1078-1080)Caa>Taa p.Q360* LUAD 3 20161127 20161127 + Nonsense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr3:20161127C>A c.1188C>A c.(1186-1188)taC>taA p.Y396* LUAD 3 20164264 20164264 + Missense_Mutation SNP A A T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr3:20164264A>T c.1381A>T c.(1381-1383)Atc>Ttc p.I461F LUAD 3 20164279 20164279 + Missense_Mutation SNP G G A TCGA-05-4244-01A-01D-1105-08 TCGA-05-4244-10A-01D-1105-08 g.chr3:20164279G>A c.1396G>A c.(1396-1398)Gca>Aca p.A466T LUAD 3 20178507 20178507 + Missense_Mutation SNP A A G TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr3:20178507A>G c.1823A>G c.(1822-1824)tAt>tGt p.Y608C LUSC 3 20082244 20082244 + Missense_Mutation SNP A A G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 g.chr3:20082244A>G c.275A>G c.(274-276)gAg>gGg p.E92G LUSC 3 20136868 20136868 + Missense_Mutation SNP G G T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 g.chr3:20136868G>T c.544G>T c.(544-546)Gat>Tat p.D182Y LUSC 3 20142869 20142869 + Missense_Mutation SNP C C T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 g.chr3:20142869C>T c.760C>T c.(760-762)Cgc>Tgc p.R254C LUSC 3 20178441 20178441 + Missense_Mutation SNP G G T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr3:20178441G>T c.1757G>T c.(1756-1758)gGa>gTa p.G586V LUSC 3 20189783 20189783 + Silent SNP C C T TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr3:20189783C>T c.2205C>T c.(2203-2205)atC>atT p.I735I OV 3 20136781 20136781 + Missense_Mutation SNP G G A TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 g.chr3:20136781G>A c.457G>A c.(457-459)Gtg>Atg p.V153M PAAD 3 20167396 20167396 + Splice_Site SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:20167396G>T c.e10-1 PAAD 3 20169002 20169002 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:20169002G>A c.1710G>A c.(1708-1710)gaG>gaA p.E570E PRAD 3 20142838 20142838 + Silent SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:20142838A>G c.729A>G c.(727-729)acA>acG p.T243T PRAD 3 20167421 20167421 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:20167421G>A c.1438G>A c.(1438-1440)Gcc>Acc p.A480T READ 3 20164271 20164271 + Missense_Mutation SNP A A G TCGA-AF-6136-01A-11D-1826-10 TCGA-AF-6136-10A-01D-1826-10 g.chr3:20164271A>G c.1388A>G c.(1387-1389)gAc>gGc p.D463G READ 3 20187847 20187847 + Nonsense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:20187847C>T c.2044C>T c.(2044-2046)Cga>Tga p.R682* READ 3 20189935 20189935 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:20189935G>T c.2261G>T c.(2260-2262)aGa>aTa p.R754I SARC 3 20153214 20153214 + Silent SNP A A G TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 g.chr3:20153214A>G c.978A>G c.(976-978)caA>caG p.Q326Q SKCM 3 20136767 20136767 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 g.chr3:20136767C>T c.443C>T c.(442-444)tCc>tTc p.S148F SKCM 3 20136846 20136846 + Nonsense_Mutation SNP T T A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr3:20136846T>A c.522T>A c.(520-522)tgT>tgA p.C174* SKCM 3 20136892 20136892 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr3:20136892C>T c.568C>T c.(568-570)Cta>Tta p.L190L SKCM 3 20141445 20141445 + Splice_Site SNP A A T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr3:20141445A>T c.668A>T c.(667-669)cAg>cTg p.Q223L SKCM 3 20142942 20142942 + Missense_Mutation SNP A A T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 g.chr3:20142942A>T c.833A>T c.(832-834)tAc>tTc p.Y278F SKCM 3 20153274 20153274 + Silent SNP C C T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr3:20153274C>T c.1038C>T c.(1036-1038)ttC>ttT p.F346F SKCM 3 20156418 20156418 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:20156418C>T c.1088C>T c.(1087-1089)cCc>cTc p.P363L SKCM 3 20161138 20161138 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:20161138C>T c.1199C>T c.(1198-1200)tCa>tTa p.S400L SKCM 3 20168949 20168949 + Missense_Mutation SNP C C G TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr3:20168949C>G c.1657C>G c.(1657-1659)Cgt>Ggt p.R553G SKCM 3 20168972 20168972 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr3:20168972C>T c.1680C>T c.(1678-1680)ttC>ttT p.F560F SKCM 3 20178515 20178515 + Missense_Mutation SNP G G A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr3:20178515G>A c.1831G>A c.(1831-1833)Gaa>Aaa p.E611K SKCM 3 20187898 20187898 + Missense_Mutation SNP C C T TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr3:20187898C>T c.2095C>T c.(2095-2097)Cct>Tct p.P699S SKCM 3 20189750 20189750 + Silent SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:20189750C>T c.2172C>T c.(2170-2172)gaC>gaT p.D724D SKCM 3 20193934 20193934 + Nonsense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr3:20193934G>T c.2416G>T c.(2416-2418)Gag>Tag p.E806*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 20113830 20113830 single base substitution G A exon_variant BLCA-CN 3 20113830 20113830 single base substitution G A synonymous_variant E103E 309G>A BLCA-CN 3 20113870 20113870 single base substitution T C exon_variant BLCA-CN 3 20113870 20113870 single base substitution T C missense_variant S117P 349T>C BLCA-CN 3 20178528 20178528 single base substitution G T exon_variant BLCA-CN 3 20178528 20178528 single base substitution G T missense_variant G615V 1844G>T BLCA-US 3 20082225 20082225 single base substitution C G exon_variant BLCA-US 3 20082225 20082225 single base substitution C G missense_variant P86A 256C>G BOCA-FR 3 20186865 20186865 single base substitution T C intron_variant BOCA-FR 3 20186865 20186865 single base substitution T C upstream_gene_variant BRCA-EU 3 20077231 20077231 single base substitution A G upstream_gene_variant BRCA-EU 3 20077572 20077572 single base substitution C A upstream_gene_variant BRCA-EU 3 20078301 20078301 single base substitution A G upstream_gene_variant BRCA-EU 3 20081061 20081061 single base substitution C A upstream_gene_variant BRCA-EU 3 20084422 20084422 single base substitution C A intron_variant BRCA-EU 3 20085165 20085165 single base substitution G A intron_variant BRCA-EU 3 20085606 20085606 single base substitution G C intron_variant BRCA-EU 3 20086276 20086276 single base substitution T C intron_variant BRCA-EU 3 20089734 20089734 single base substitution T C intron_variant BRCA-EU 3 20090338 20090338 single base substitution C G intron_variant BRCA-EU 3 20090594 20090594 single base substitution C T intron_variant BRCA-EU 3 20090761 20090761 single base substitution T C intron_variant BRCA-EU 3 20091355 20091355 single base substitution G T intron_variant BRCA-EU 3 20093205 20093205 single base substitution T C intron_variant BRCA-EU 3 20093558 20093558 single base substitution T C intron_variant BRCA-EU 3 20093935 20093935 single base substitution C T intron_variant BRCA-EU 3 20094995 20094995 single base substitution G T intron_variant BRCA-EU 3 20095056 20095056 single base substitution G A intron_variant BRCA-EU 3 20095542 20095542 single base substitution G C intron_variant BRCA-EU 3 20095684 20095684 single base substitution C T intron_variant BRCA-EU 3 20096032 20096032 single base substitution T A intron_variant BRCA-EU 3 20096103 20096103 single base substitution G A intron_variant BRCA-EU 3 20096216 20096216 single base substitution G A intron_variant BRCA-EU 3 20096267 20096267 single base substitution G A intron_variant BRCA-EU 3 20096355 20096355 single base substitution C T intron_variant BRCA-EU 3 20096403 20096403 single base substitution T A intron_variant BRCA-EU 3 20098644 20098644 single base substitution C T intron_variant BRCA-EU 3 20100733 20100733 single base substitution C T intron_variant BRCA-EU 3 20101191 20101191 single base substitution C T intron_variant BRCA-EU 3 20101516 20101516 single base substitution G A intron_variant BRCA-EU 3 20102087 20102087 single base substitution C G intron_variant BRCA-EU 3 20102250 20102250 single base substitution C T intron_variant BRCA-EU 3 20104849 20104849 single base substitution G T intron_variant BRCA-EU 3 20105313 20105313 single base substitution G A intron_variant BRCA-EU 3 20107940 20107940 single base substitution G C intron_variant BRCA-EU 3 20108242 20108242 single base substitution A T intron_variant BRCA-EU 3 20108766 20108766 single base substitution A T intron_variant BRCA-EU 3 20108883 20108883 single base substitution T A intron_variant BRCA-EU 3 20110399 20110399 single base substitution C T intron_variant BRCA-EU 3 20111057 20111057 single base substitution G A intron_variant BRCA-EU 3 20112295 20112295 single base substitution G A intron_variant BRCA-EU 3 20113340 20113340 single base substitution C T intron_variant BRCA-EU 3 20114858 20114858 single base substitution C A intron_variant BRCA-EU 3 20116377 20116377 single base substitution G A intron_variant BRCA-EU 3 20118680 20118680 single base substitution C G intron_variant BRCA-EU 3 20118732 20118732 single base substitution G A intron_variant BRCA-EU 3 20119517 20119517 single base substitution A T intron_variant BRCA-EU 3 20120112 20120112 single base substitution C T intron_variant BRCA-EU 3 20122502 20122502 deletion of <=200bp T - intron_variant BRCA-EU 3 20122503 20122503 single base substitution T C intron_variant BRCA-EU 3 20122694 20122694 single base substitution G C intron_variant BRCA-EU 3 20122906 20122906 single base substitution C T intron_variant BRCA-EU 3 20124180 20124180 deletion of <=200bp T - intron_variant BRCA-EU 3 20124485 20124485 single base substitution A C intron_variant BRCA-EU 3 20124793 20124793 single base substitution C G intron_variant BRCA-EU 3 20125944 20125944 single base substitution C G intron_variant BRCA-EU 3 20126691 20126691 deletion of <=200bp A - intron_variant BRCA-EU 3 20126693 20126693 single base substitution A T intron_variant BRCA-EU 3 20128800 20128800 single base substitution A G intron_variant BRCA-EU 3 20130232 20130232 single base substitution T C intron_variant BRCA-EU 3 20130247 20130247 single base substitution C A intron_variant BRCA-EU 3 20130428 20130428 single base substitution C G intron_variant BRCA-EU 3 20131143 20131143 single base substitution C A intron_variant BRCA-EU 3 20131312 20131312 deletion of <=200bp T - intron_variant BRCA-EU 3 20132241 20132241 deletion of <=200bp T - intron_variant BRCA-EU 3 20132461 20132461 single base substitution C G intron_variant BRCA-EU 3 20135578 20135578 single base substitution T C intron_variant BRCA-EU 3 20136255 20136255 single base substitution C T intron_variant BRCA-EU 3 20136474 20136474 single base substitution G A intron_variant BRCA-EU 3 20137492 20137492 single base substitution G A intron_variant BRCA-EU 3 20137958 20137958 deletion of <=200bp A - intron_variant BRCA-EU 3 20142313 20142313 single base substitution G C intron_variant BRCA-EU 3 20142415 20142415 single base substitution T C intron_variant BRCA-EU 3 20142677 20142677 single base substitution C T downstream_gene_variant BRCA-EU 3 20142677 20142677 single base substitution C T intron_variant BRCA-EU 3 20142767 20142767 single base substitution C T downstream_gene_variant BRCA-EU 3 20142767 20142767 single base substitution C T intron_variant BRCA-EU 3 20143128 20143128 single base substitution C G downstream_gene_variant BRCA-EU 3 20143128 20143128 single base substitution C G intron_variant BRCA-EU 3 20143471 20143471 single base substitution G C downstream_gene_variant BRCA-EU 3 20143471 20143471 single base substitution G C intron_variant BRCA-EU 3 20144322 20144322 single base substitution C A downstream_gene_variant BRCA-EU 3 20144322 20144322 single base substitution C A intron_variant BRCA-EU 3 20145758 20145758 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 20145758 20145758 deletion of <=200bp T - intron_variant BRCA-EU 3 20147971 20147971 single base substitution A T intron_variant BRCA-EU 3 20148771 20148771 single base substitution C A intron_variant BRCA-EU 3 20148771 20148771 single base substitution C A upstream_gene_variant BRCA-EU 3 20150325 20150325 single base substitution T C intron_variant BRCA-EU 3 20150325 20150325 single base substitution T C upstream_gene_variant BRCA-EU 3 20150422 20150422 single base substitution C G intron_variant BRCA-EU 3 20150422 20150422 single base substitution C G upstream_gene_variant BRCA-EU 3 20150866 20150866 single base substitution T C intron_variant BRCA-EU 3 20150866 20150866 single base substitution T C upstream_gene_variant BRCA-EU 3 20150931 20150931 single base substitution C A intron_variant BRCA-EU 3 20150931 20150931 single base substitution C A upstream_gene_variant BRCA-EU 3 20151527 20151527 single base substitution T A intron_variant BRCA-EU 3 20151527 20151527 single base substitution T A upstream_gene_variant BRCA-EU 3 20151609 20151609 single base substitution G C intron_variant BRCA-EU 3 20151609 20151609 single base substitution G C upstream_gene_variant BRCA-EU 3 20153209 20153209 single base substitution G T intron_variant BRCA-EU 3 20153209 20153209 single base substitution G T stop_gained E325* 973G>T BRCA-EU 3 20153745 20153745 single base substitution A G intron_variant BRCA-EU 3 20154536 20154536 single base substitution C G intron_variant BRCA-EU 3 20156163 20156163 single base substitution G A intron_variant BRCA-EU 3 20158119 20158119 single base substitution T C intron_variant BRCA-EU 3 20160668 20160668 single base substitution C T intron_variant BRCA-EU 3 20160776 20160776 single base substitution T A intron_variant BRCA-EU 3 20161161 20161161 single base substitution G A exon_variant BRCA-EU 3 20161161 20161161 single base substitution G A missense_variant A408T 1222G>A BRCA-EU 3 20161742 20161742 single base substitution C T intron_variant BRCA-EU 3 20164012 20164012 single base substitution C T intron_variant BRCA-EU 3 20164012 20164012 single base substitution C T upstream_gene_variant BRCA-EU 3 20164250 20164250 single base substitution A T exon_variant BRCA-EU 3 20164250 20164250 single base substitution A T missense_variant E456V 1367A>T BRCA-EU 3 20164250 20164250 single base substitution A T upstream_gene_variant BRCA-EU 3 20164368 20164368 single base substitution G T downstream_gene_variant BRCA-EU 3 20164368 20164368 single base substitution G T intron_variant BRCA-EU 3 20164368 20164368 single base substitution G T upstream_gene_variant BRCA-EU 3 20164536 20164536 single base substitution C T downstream_gene_variant BRCA-EU 3 20164536 20164536 single base substitution C T intron_variant BRCA-EU 3 20164536 20164536 single base substitution C T upstream_gene_variant BRCA-EU 3 20165964 20165964 single base substitution A G downstream_gene_variant BRCA-EU 3 20165964 20165964 single base substitution A G intron_variant BRCA-EU 3 20165964 20165964 single base substitution A G upstream_gene_variant BRCA-EU 3 20166348 20166348 single base substitution G C downstream_gene_variant BRCA-EU 3 20166348 20166348 single base substitution G C intron_variant BRCA-EU 3 20166348 20166348 single base substitution G C upstream_gene_variant BRCA-EU 3 20166721 20166721 single base substitution C T downstream_gene_variant BRCA-EU 3 20166721 20166721 single base substitution C T intron_variant BRCA-EU 3 20166721 20166721 single base substitution C T upstream_gene_variant BRCA-EU 3 20166724 20166724 single base substitution G A downstream_gene_variant BRCA-EU 3 20166724 20166724 single base substitution G A intron_variant BRCA-EU 3 20166724 20166724 single base substitution G A upstream_gene_variant BRCA-EU 3 20167385 20167385 single base substitution C G downstream_gene_variant BRCA-EU 3 20167385 20167385 single base substitution C G intron_variant BRCA-EU 3 20167385 20167385 single base substitution C G upstream_gene_variant BRCA-EU 3 20167592 20167592 single base substitution C T downstream_gene_variant BRCA-EU 3 20167592 20167592 single base substitution C T missense_variant L537F 1609C>T BRCA-EU 3 20167592 20167592 single base substitution C T upstream_gene_variant BRCA-EU 3 20168507 20168507 single base substitution C T downstream_gene_variant BRCA-EU 3 20168507 20168507 single base substitution C T intron_variant BRCA-EU 3 20168507 20168507 single base substitution C T upstream_gene_variant BRCA-EU 3 20169569 20169569 single base substitution C T intron_variant BRCA-EU 3 20169989 20169989 insertion of <=200bp - T intron_variant BRCA-EU 3 20170992 20170992 single base substitution G A intron_variant BRCA-EU 3 20171512 20171512 single base substitution C T intron_variant BRCA-EU 3 20171565 20171565 single base substitution G A intron_variant BRCA-EU 3 20171653 20171653 single base substitution G A intron_variant BRCA-EU 3 20171751 20171751 single base substitution A G intron_variant BRCA-EU 3 20171969 20171969 single base substitution G A intron_variant BRCA-EU 3 20173865 20173865 single base substitution C G intron_variant BRCA-EU 3 20174297 20174297 single base substitution G A intron_variant BRCA-EU 3 20175826 20175826 single base substitution C G intron_variant BRCA-EU 3 20176366 20176366 deletion of <=200bp T - intron_variant BRCA-EU 3 20178276 20178276 single base substitution C T intron_variant BRCA-EU 3 20181266 20181266 single base substitution A C intron_variant BRCA-EU 3 20183442 20183442 single base substitution C G intron_variant BRCA-EU 3 20183460 20183460 single base substitution G A intron_variant BRCA-EU 3 20183774 20183774 single base substitution C G intron_variant BRCA-EU 3 20184653 20184653 single base substitution C G intron_variant BRCA-EU 3 20185421 20185421 single base substitution G T intron_variant BRCA-EU 3 20185421 20185421 single base substitution G T upstream_gene_variant BRCA-EU 3 20186794 20186794 single base substitution C G intron_variant BRCA-EU 3 20186794 20186794 single base substitution C G upstream_gene_variant BRCA-EU 3 20189060 20189060 single base substitution C T downstream_gene_variant BRCA-EU 3 20189060 20189060 single base substitution C T intron_variant BRCA-EU 3 20189060 20189060 single base substitution C T upstream_gene_variant BRCA-EU 3 20189564 20189564 single base substitution A C downstream_gene_variant BRCA-EU 3 20189564 20189564 single base substitution A C intron_variant BRCA-EU 3 20189564 20189564 single base substitution A C upstream_gene_variant BRCA-EU 3 20190253 20190253 single base substitution G C downstream_gene_variant BRCA-EU 3 20190253 20190253 single base substitution G C exon_variant BRCA-EU 3 20190253 20190253 single base substitution G C intron_variant BRCA-EU 3 20192508 20192508 single base substitution G T downstream_gene_variant BRCA-EU 3 20192508 20192508 single base substitution G T intron_variant BRCA-EU 3 20192622 20192623 deletion of <=200bp TC - downstream_gene_variant BRCA-EU 3 20192622 20192623 deletion of <=200bp TC - intron_variant BRCA-EU 3 20192645 20192648 deletion of <=200bp AAGA - downstream_gene_variant BRCA-EU 3 20192645 20192648 deletion of <=200bp AAGA - intron_variant BRCA-EU 3 20193889 20193889 single base substitution G C downstream_gene_variant BRCA-EU 3 20193889 20193889 single base substitution G C missense_variant D791H 2371G>C BRCA-EU 3 20194018 20194018 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 3 20194018 20194018 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 20194395 20194395 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 3 20194395 20194395 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 20194827 20194877 deletion of <=200bp ACATGAGATTGAATCAACATGCTTTAATAGGAAAAGATGTATGGTCTATAT - 3_prime_UTR_variant BRCA-EU 3 20194827 20194877 deletion of <=200bp ACATGAGATTGAATCAACATGCTTTAATAGGAAAAGATGTATGGTCTATAT - downstream_gene_variant BRCA-EU 3 20196968 20196968 single base substitution G T downstream_gene_variant BRCA-EU 3 20198303 20198303 single base substitution G T downstream_gene_variant BRCA-EU 3 20199151 20199151 single base substitution C T downstream_gene_variant BRCA-EU 3 20199318 20199318 single base substitution G A downstream_gene_variant BRCA-EU 3 20199672 20199672 single base substitution A G downstream_gene_variant BRCA-EU 3 20199939 20199939 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 20200737 20200737 single base substitution C T downstream_gene_variant BRCA-FR 3 20085165 20085165 single base substitution G A intron_variant BRCA-FR 3 20089734 20089734 single base substitution T C intron_variant BRCA-FR 3 20090594 20090594 single base substitution C T intron_variant BRCA-FR 3 20096103 20096103 single base substitution G A intron_variant BRCA-FR 3 20098911 20098911 single base substitution G A intron_variant BRCA-FR 3 20102087 20102087 single base substitution C G intron_variant BRCA-FR 3 20105313 20105313 single base substitution G A intron_variant BRCA-FR 3 20107940 20107940 single base substitution G C intron_variant BRCA-FR 3 20124793 20124793 single base substitution C G intron_variant BRCA-FR 3 20125944 20125944 single base substitution C G intron_variant BRCA-FR 3 20137492 20137492 single base substitution G A intron_variant BRCA-FR 3 20143128 20143128 single base substitution C G downstream_gene_variant BRCA-FR 3 20143128 20143128 single base substitution C G intron_variant BRCA-FR 3 20148771 20148771 single base substitution C A intron_variant BRCA-FR 3 20148771 20148771 single base substitution C A upstream_gene_variant BRCA-FR 3 20160668 20160668 single base substitution C T intron_variant BRCA-FR 3 20166724 20166724 single base substitution G A downstream_gene_variant BRCA-FR 3 20166724 20166724 single base substitution G A intron_variant BRCA-FR 3 20166724 20166724 single base substitution G A upstream_gene_variant BRCA-FR 3 20182638 20182638 single base substitution C A intron_variant BRCA-FR 3 20194016 20194016 single base substitution G C downstream_gene_variant BRCA-FR 3 20194016 20194016 single base substitution G C stop_lost *833S 2498G>C BRCA-FR 3 20195891 20195891 single base substitution T A 3_prime_UTR_variant BRCA-FR 3 20198303 20198303 single base substitution G T downstream_gene_variant BRCA-FR 3 20199151 20199151 single base substitution C T downstream_gene_variant BRCA-UK 3 20077231 20077231 single base substitution A G upstream_gene_variant BRCA-UK 3 20082722 20082722 single base substitution G A intron_variant BRCA-UK 3 20093205 20093205 single base substitution T C intron_variant BRCA-UK 3 20162927 20162927 single base substitution G A intron_variant BRCA-UK 3 20163296 20163296 single base substitution G C intron_variant BRCA-UK 3 20164536 20164536 single base substitution C T downstream_gene_variant BRCA-UK 3 20164536 20164536 single base substitution C T intron_variant BRCA-UK 3 20164536 20164536 single base substitution C T upstream_gene_variant BRCA-UK 3 20168943 20168943 single base substitution G A downstream_gene_variant BRCA-UK 3 20168943 20168943 single base substitution G A missense_variant D551N 1651G>A BRCA-UK 3 20168943 20168943 single base substitution G A upstream_gene_variant BRCA-UK 3 20180327 20180327 single base substitution C T intron_variant BRCA-UK 3 20187383 20187383 single base substitution C G intron_variant BRCA-UK 3 20187383 20187383 single base substitution C G upstream_gene_variant BRCA-UK 3 20194833 20194833 single base substitution G C 3_prime_UTR_variant BRCA-UK 3 20194833 20194833 single base substitution G C downstream_gene_variant BRCA-US 3 20113931 20113931 single base substitution G A exon_variant BRCA-US 3 20113931 20113931 single base substitution G A missense_variant R137Q 410G>A BRCA-US 3 20156413 20156413 single base substitution C G exon_variant BRCA-US 3 20156413 20156413 single base substitution C G missense_variant N361K 1083C>G BRCA-US 3 20161094 20161094 single base substitution C A exon_variant BRCA-US 3 20161094 20161094 single base substitution C A synonymous_variant I385I 1155C>A BRCA-US 3 20167519 20167519 single base substitution G T downstream_gene_variant BRCA-US 3 20167519 20167519 single base substitution G T synonymous_variant L512L 1536G>T BRCA-US 3 20167519 20167519 single base substitution G T upstream_gene_variant BRCA-US 3 20167543 20167543 single base substitution C T downstream_gene_variant BRCA-US 3 20167543 20167543 single base substitution C T synonymous_variant N520N 1560C>T BRCA-US 3 20167543 20167543 single base substitution C T upstream_gene_variant BRCA-US 3 20167590 20167590 single base substitution G A downstream_gene_variant BRCA-US 3 20167590 20167590 single base substitution G A missense_variant R536Q 1607G>A BRCA-US 3 20167590 20167590 single base substitution G A upstream_gene_variant BRCA-US 3 20168950 20168950 single base substitution G A downstream_gene_variant BRCA-US 3 20168950 20168950 single base substitution G A missense_variant R553H 1658G>A BRCA-US 3 20168950 20168950 single base substitution G A upstream_gene_variant BRCA-US 3 20168996 20168996 single base substitution C T downstream_gene_variant BRCA-US 3 20168996 20168996 single base substitution C T exon_variant BRCA-US 3 20168996 20168996 single base substitution C T synonymous_variant F568F 1704C>T BRCA-US 3 20189800 20189800 single base substitution T G downstream_gene_variant BRCA-US 3 20189800 20189800 single base substitution T G splice_donor_variant BRCA-US 3 20193909 20193909 insertion of <=200bp - A downstream_gene_variant BRCA-US 3 20193909 20193909 insertion of <=200bp - A frameshift_variant T797T? BTCA-JP 3 20114000 20114000 single base substitution G T intron_variant BTCA-JP 3 20136826 20136826 single base substitution G A exon_variant BTCA-JP 3 20136826 20136826 single base substitution G A missense_variant V168M 502G>A BTCA-JP 3 20164249 20164249 single base substitution G A exon_variant BTCA-JP 3 20164249 20164249 single base substitution G A missense_variant E456K 1366G>A BTCA-JP 3 20164249 20164249 single base substitution G A upstream_gene_variant BTCA-JP 3 20187968 20187968 single base substitution G A exon_variant BTCA-JP 3 20187968 20187968 single base substitution G A intron_variant BTCA-JP 3 20187968 20187968 single base substitution G A upstream_gene_variant BTCA-JP 3 20189537 20189537 single base substitution T C downstream_gene_variant BTCA-JP 3 20189537 20189537 single base substitution T C intron_variant BTCA-JP 3 20189537 20189537 single base substitution T C upstream_gene_variant BTCA-JP 3 20194025 20194025 single base substitution T C 3_prime_UTR_variant BTCA-JP 3 20194025 20194025 single base substitution T C downstream_gene_variant CESC-US 3 20178473 20178473 single base substitution C G exon_variant CESC-US 3 20178473 20178473 single base substitution C G missense_variant H597D 1789C>G CLLE-ES 3 20116796 20116796 single base substitution T G intron_variant CLLE-ES 3 20117814 20117814 single base substitution T G intron_variant CLLE-ES 3 20134189 20134189 single base substitution T A intron_variant CLLE-ES 3 20144474 20144474 single base substitution G A downstream_gene_variant CLLE-ES 3 20144474 20144474 single base substitution G A intron_variant CLLE-ES 3 20161484 20161484 single base substitution C T intron_variant CLLE-ES 3 20170953 20170953 single base substitution G T intron_variant CLLE-ES 3 20195428 20195428 single base substitution G T 3_prime_UTR_variant CLLE-ES 3 20195428 20195428 single base substitution G T downstream_gene_variant CLLE-ES 3 20199235 20199235 single base substitution C T downstream_gene_variant COAD-US 3 20113913 20113913 single base substitution G A exon_variant COAD-US 3 20113913 20113913 single base substitution G A missense_variant S131N 392G>A COAD-US 3 20161213 20161213 single base substitution C A missense_variant P425Q 1274C>A COAD-US 3 20161213 20161213 single base substitution C A splice_region_variant COAD-US 3 20167408 20167408 single base substitution G A downstream_gene_variant COAD-US 3 20167408 20167408 single base substitution G A synonymous_variant L475L 1425G>A COAD-US 3 20167408 20167408 single base substitution G A upstream_gene_variant COAD-US 3 20167508 20167508 single base substitution A G downstream_gene_variant COAD-US 3 20167508 20167508 single base substitution A G missense_variant K509E 1525A>G COAD-US 3 20167508 20167508 single base substitution A G upstream_gene_variant COAD-US 3 20167543 20167543 single base substitution C T downstream_gene_variant COAD-US 3 20167543 20167543 single base substitution C T synonymous_variant N520N 1560C>T COAD-US 3 20167543 20167543 single base substitution C T upstream_gene_variant COAD-US 3 20181759 20181759 single base substitution A T exon_variant COAD-US 3 20181759 20181759 single base substitution A T missense_variant Y636F 1907A>T COAD-US 3 20194018 20194018 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 3 20194018 20194018 deletion of <=200bp T - downstream_gene_variant COCA-CN 3 20114044 20114044 single base substitution T C intron_variant COCA-CN 3 20114048 20114048 single base substitution G A intron_variant COCA-CN 3 20136611 20136611 single base substitution C T intron_variant COCA-CN 3 20136683 20136683 single base substitution T G intron_variant COCA-CN 3 20142360 20142360 single base substitution T C intron_variant COCA-CN 3 20142655 20142655 single base substitution A C downstream_gene_variant COCA-CN 3 20142655 20142655 single base substitution A C intron_variant COCA-CN 3 20153252 20153252 single base substitution G A intron_variant COCA-CN 3 20153252 20153252 single base substitution G A missense_variant R339Q 1016G>A COCA-CN 3 20160944 20160944 single base substitution A G intron_variant COCA-CN 3 20167540 20167540 single base substitution G A downstream_gene_variant COCA-CN 3 20167540 20167540 single base substitution G A synonymous_variant Q519Q 1557G>A COCA-CN 3 20167540 20167540 single base substitution G A upstream_gene_variant COCA-CN 3 20187949 20187949 single base substitution G A exon_variant COCA-CN 3 20187949 20187949 single base substitution G A intron_variant COCA-CN 3 20187949 20187949 single base substitution G A upstream_gene_variant COCA-CN 3 20189717 20189717 single base substitution T C downstream_gene_variant COCA-CN 3 20189717 20189717 single base substitution T C intron_variant COCA-CN 3 20189717 20189717 single base substitution T C upstream_gene_variant COCA-CN 3 20189748 20189748 single base substitution G T downstream_gene_variant COCA-CN 3 20189748 20189748 single base substitution G T exon_variant COCA-CN 3 20189748 20189748 single base substitution G T missense_variant D724Y 2170G>T COCA-CN 3 20193969 20193969 single base substitution G T downstream_gene_variant COCA-CN 3 20193969 20193969 single base substitution G T missense_variant E817D 2451G>T EOPC-DE 3 20085919 20085919 single base substitution T A intron_variant EOPC-DE 3 20107063 20107063 single base substitution G A intron_variant EOPC-DE 3 20170538 20170538 single base substitution G C intron_variant ESAD-UK 3 20084583 20084583 single base substitution G T intron_variant ESAD-UK 3 20084920 20084920 single base substitution T C intron_variant ESAD-UK 3 20088960 20088960 deletion of <=200bp G - intron_variant ESAD-UK 3 20089767 20089767 single base substitution A G intron_variant ESAD-UK 3 20090543 20090543 single base substitution G A intron_variant ESAD-UK 3 20091576 20091576 single base substitution C T intron_variant ESAD-UK 3 20092025 20092025 single base substitution G A intron_variant ESAD-UK 3 20093304 20093304 single base substitution A G intron_variant ESAD-UK 3 20093352 20093352 single base substitution T G intron_variant ESAD-UK 3 20094136 20094136 single base substitution C T intron_variant ESAD-UK 3 20097499 20097499 single base substitution C A intron_variant ESAD-UK 3 20097762 20097765 deletion of <=200bp TTTG - intron_variant ESAD-UK 3 20098086 20098086 single base substitution A C intron_variant ESAD-UK 3 20098335 20098335 single base substitution A C intron_variant ESAD-UK 3 20100236 20100236 single base substitution A C intron_variant ESAD-UK 3 20100396 20100396 single base substitution T G intron_variant ESAD-UK 3 20100449 20100449 single base substitution T C intron_variant ESAD-UK 3 20101426 20101426 single base substitution C T intron_variant ESAD-UK 3 20104961 20104961 single base substitution G A intron_variant ESAD-UK 3 20105470 20105470 single base substitution C T intron_variant ESAD-UK 3 20108183 20108183 single base substitution G A intron_variant ESAD-UK 3 20111701 20111701 single base substitution C T intron_variant ESAD-UK 3 20112510 20112510 single base substitution A C intron_variant ESAD-UK 3 20115706 20115706 single base substitution T G intron_variant ESAD-UK 3 20116458 20116458 single base substitution G A intron_variant ESAD-UK 3 20117611 20117611 single base substitution C T intron_variant ESAD-UK 3 20119750 20119750 single base substitution T A intron_variant ESAD-UK 3 20120976 20120976 single base substitution G A intron_variant ESAD-UK 3 20121607 20121607 single base substitution A T intron_variant ESAD-UK 3 20125087 20125087 single base substitution G A intron_variant ESAD-UK 3 20126116 20126116 single base substitution G A intron_variant ESAD-UK 3 20128445 20128445 single base substitution T A intron_variant ESAD-UK 3 20129444 20129444 insertion of <=200bp - T intron_variant ESAD-UK 3 20129444 20129444 single base substitution A T intron_variant ESAD-UK 3 20131524 20131524 single base substitution C G intron_variant ESAD-UK 3 20132056 20132056 single base substitution C T intron_variant ESAD-UK 3 20136981 20136981 single base substitution A T intron_variant ESAD-UK 3 20138057 20138057 single base substitution T A intron_variant ESAD-UK 3 20138483 20138483 single base substitution A G intron_variant ESAD-UK 3 20141323 20141323 single base substitution C G intron_variant ESAD-UK 3 20141855 20141855 deletion of <=200bp A - intron_variant ESAD-UK 3 20142754 20142754 single base substitution A C downstream_gene_variant ESAD-UK 3 20142754 20142754 single base substitution A C intron_variant ESAD-UK 3 20143021 20143021 single base substitution T G downstream_gene_variant ESAD-UK 3 20143021 20143021 single base substitution T G intron_variant ESAD-UK 3 20143331 20143331 single base substitution A C downstream_gene_variant ESAD-UK 3 20143331 20143331 single base substitution A C intron_variant ESAD-UK 3 20143517 20143517 single base substitution A C downstream_gene_variant ESAD-UK 3 20143517 20143517 single base substitution A C intron_variant ESAD-UK 3 20143774 20143774 single base substitution G C downstream_gene_variant ESAD-UK 3 20143774 20143774 single base substitution G C intron_variant ESAD-UK 3 20144827 20144827 insertion of <=200bp - G downstream_gene_variant ESAD-UK 3 20144827 20144827 insertion of <=200bp - G intron_variant ESAD-UK 3 20145420 20145420 single base substitution T C downstream_gene_variant ESAD-UK 3 20145420 20145420 single base substitution T C intron_variant ESAD-UK 3 20146524 20146524 single base substitution C T downstream_gene_variant ESAD-UK 3 20146524 20146524 single base substitution C T intron_variant ESAD-UK 3 20148248 20148248 single base substitution C T intron_variant ESAD-UK 3 20148248 20148248 single base substitution C T upstream_gene_variant ESAD-UK 3 20152973 20152973 single base substitution T G intron_variant ESAD-UK 3 20152973 20152973 single base substitution T G upstream_gene_variant ESAD-UK 3 20155660 20155660 single base substitution T C intron_variant ESAD-UK 3 20155732 20155732 single base substitution T A intron_variant ESAD-UK 3 20156282 20156282 single base substitution C T intron_variant ESAD-UK 3 20156872 20156872 single base substitution C T intron_variant ESAD-UK 3 20156895 20156895 single base substitution C A intron_variant ESAD-UK 3 20161160 20161160 single base substitution C T exon_variant ESAD-UK 3 20161160 20161160 single base substitution C T synonymous_variant N407N 1221C>T ESAD-UK 3 20162117 20162117 single base substitution G A intron_variant ESAD-UK 3 20162842 20162842 single base substitution A G intron_variant ESAD-UK 3 20163537 20163537 single base substitution A C intron_variant ESAD-UK 3 20165503 20165503 single base substitution C G downstream_gene_variant ESAD-UK 3 20165503 20165503 single base substitution C G intron_variant ESAD-UK 3 20165503 20165503 single base substitution C G upstream_gene_variant ESAD-UK 3 20165983 20165983 single base substitution T C downstream_gene_variant ESAD-UK 3 20165983 20165983 single base substitution T C intron_variant ESAD-UK 3 20165983 20165983 single base substitution T C upstream_gene_variant ESAD-UK 3 20166187 20166187 single base substitution T A downstream_gene_variant ESAD-UK 3 20166187 20166187 single base substitution T A intron_variant ESAD-UK 3 20166187 20166187 single base substitution T A upstream_gene_variant ESAD-UK 3 20166188 20166188 single base substitution A G downstream_gene_variant ESAD-UK 3 20166188 20166188 single base substitution A G intron_variant ESAD-UK 3 20166188 20166188 single base substitution A G upstream_gene_variant ESAD-UK 3 20167176 20167176 single base substitution C T downstream_gene_variant ESAD-UK 3 20167176 20167176 single base substitution C T intron_variant ESAD-UK 3 20167176 20167176 single base substitution C T upstream_gene_variant ESAD-UK 3 20168487 20168487 single base substitution G T downstream_gene_variant ESAD-UK 3 20168487 20168487 single base substitution G T intron_variant ESAD-UK 3 20168487 20168487 single base substitution G T upstream_gene_variant ESAD-UK 3 20169658 20169658 single base substitution G A intron_variant ESAD-UK 3 20169984 20169989 deletion of <=200bp TTTTGT - intron_variant ESAD-UK 3 20172157 20172157 single base substitution C T intron_variant ESAD-UK 3 20173895 20173895 single base substitution T C intron_variant ESAD-UK 3 20174692 20174692 single base substitution T G intron_variant ESAD-UK 3 20175955 20175955 single base substitution C A intron_variant ESAD-UK 3 20177038 20177038 single base substitution C T intron_variant ESAD-UK 3 20177258 20177258 single base substitution C T intron_variant ESAD-UK 3 20180716 20180716 insertion of <=200bp - C intron_variant ESAD-UK 3 20180722 20180722 single base substitution T A intron_variant ESAD-UK 3 20180723 20180723 insertion of <=200bp - TA intron_variant ESAD-UK 3 20182706 20182706 single base substitution C A intron_variant ESAD-UK 3 20184061 20184062 deletion of <=200bp AG - intron_variant ESAD-UK 3 20184701 20184701 single base substitution G C intron_variant ESAD-UK 3 20185033 20185033 single base substitution C T intron_variant ESAD-UK 3 20185033 20185033 single base substitution C T upstream_gene_variant ESAD-UK 3 20185196 20185196 insertion of <=200bp - A intron_variant ESAD-UK 3 20185196 20185196 insertion of <=200bp - A upstream_gene_variant ESAD-UK 3 20185469 20185469 single base substitution C A intron_variant ESAD-UK 3 20185469 20185469 single base substitution C A upstream_gene_variant ESAD-UK 3 20185832 20185832 single base substitution G T intron_variant ESAD-UK 3 20185832 20185832 single base substitution G T upstream_gene_variant ESAD-UK 3 20187414 20187414 single base substitution G A intron_variant ESAD-UK 3 20187414 20187414 single base substitution G A upstream_gene_variant ESAD-UK 3 20187889 20187889 single base substitution C T exon_variant ESAD-UK 3 20187889 20187889 single base substitution C T stop_gained R696* 2086C>T ESAD-UK 3 20187889 20187889 single base substitution C T upstream_gene_variant ESAD-UK 3 20187890 20187890 single base substitution G A exon_variant ESAD-UK 3 20187890 20187890 single base substitution G A missense_variant R696Q 2087G>A ESAD-UK 3 20187890 20187890 single base substitution G A upstream_gene_variant ESAD-UK 3 20189539 20189539 single base substitution T C downstream_gene_variant ESAD-UK 3 20189539 20189539 single base substitution T C intron_variant ESAD-UK 3 20189539 20189539 single base substitution T C upstream_gene_variant ESAD-UK 3 20190427 20190427 single base substitution T C downstream_gene_variant ESAD-UK 3 20190427 20190427 single base substitution T C exon_variant ESAD-UK 3 20190427 20190427 single base substitution T C intron_variant ESAD-UK 3 20190746 20190746 single base substitution C G downstream_gene_variant ESAD-UK 3 20190746 20190746 single base substitution C G intron_variant ESAD-UK 3 20190920 20190920 single base substitution T G downstream_gene_variant ESAD-UK 3 20190920 20190920 single base substitution T G intron_variant ESAD-UK 3 20191217 20191219 deletion of <=200bp ACC - downstream_gene_variant ESAD-UK 3 20191217 20191219 deletion of <=200bp ACC - intron_variant ESAD-UK 3 20191456 20191456 single base substitution T G downstream_gene_variant ESAD-UK 3 20191456 20191456 single base substitution T G intron_variant ESAD-UK 3 20192944 20192944 single base substitution T C downstream_gene_variant ESAD-UK 3 20192944 20192944 single base substitution T C intron_variant ESAD-UK 3 20195486 20195486 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 20195486 20195486 single base substitution G A downstream_gene_variant ESAD-UK 3 20199542 20199555 deletion of <=200bp TTAAAAAGCATAGG - downstream_gene_variant ESAD-UK 3 20199583 20199583 single base substitution G A downstream_gene_variant ESCA-CN 3 20153177 20153177 single base substitution C G intron_variant ESCA-CN 3 20153177 20153177 single base substitution C G missense_variant S314W 941C>G ESCA-CN 3 20195046 20195046 single base substitution T G 3_prime_UTR_variant ESCA-CN 3 20195046 20195046 single base substitution T G downstream_gene_variant KIRC-US 3 20113852 20113852 insertion of <=200bp - G exon_variant KIRC-US 3 20113852 20113852 insertion of <=200bp - G frameshift_variant W111V? KIRC-US 3 20153227 20153227 single base substitution A G intron_variant KIRC-US 3 20153227 20153227 single base substitution A G missense_variant K331E 991A>G KIRC-US 3 20153265 20153265 single base substitution C T intron_variant KIRC-US 3 20153265 20153265 single base substitution C T synonymous_variant L343L 1029C>T KIRP-US 3 20164184 20164184 single base substitution C G exon_variant KIRP-US 3 20164184 20164184 single base substitution C G missense_variant S434C 1301C>G KIRP-US 3 20164184 20164184 single base substitution C G upstream_gene_variant KIRP-US 3 20187858 20187858 single base substitution C T exon_variant KIRP-US 3 20187858 20187858 single base substitution C T synonymous_variant Y685Y 2055C>T KIRP-US 3 20187858 20187858 single base substitution C T upstream_gene_variant LAML-KR 3 20079993 20079993 single base substitution A G upstream_gene_variant LAML-KR 3 20088574 20088574 single base substitution T C intron_variant LAML-KR 3 20120502 20120502 single base substitution G A intron_variant LAML-KR 3 20136683 20136683 single base substitution T G intron_variant LAML-KR 3 20141301 20141301 single base substitution T G intron_variant LAML-KR 3 20181615 20181615 single base substitution G T intron_variant LICA-CN 3 20167472 20167472 single base substitution C T downstream_gene_variant LICA-CN 3 20167472 20167472 single base substitution C T missense_variant H497Y 1489C>T LICA-CN 3 20167472 20167472 single base substitution C T upstream_gene_variant LICA-CN 3 20193900 20193900 single base substitution A G downstream_gene_variant LICA-CN 3 20193900 20193900 single base substitution A G synonymous_variant R794R 2382A>G LICA-FR 3 20078484 20078484 deletion of <=200bp T - upstream_gene_variant LICA-FR 3 20079023 20079023 single base substitution A G upstream_gene_variant LICA-FR 3 20099605 20099605 single base substitution A G intron_variant LICA-FR 3 20150694 20150694 single base substitution G T intron_variant LICA-FR 3 20150694 20150694 single base substitution G T upstream_gene_variant LICA-FR 3 20160771 20160771 deletion of <=200bp T - intron_variant LICA-FR 3 20170868 20170868 deletion of <=200bp T - intron_variant LICA-FR 3 20173190 20173190 single base substitution G A intron_variant LICA-FR 3 20193898 20193898 single base substitution C T downstream_gene_variant LICA-FR 3 20193898 20193898 single base substitution C T stop_gained R794* 2380C>T LICA-FR 3 20195223 20195223 single base substitution A G 3_prime_UTR_variant LICA-FR 3 20195223 20195223 single base substitution A G downstream_gene_variant LIHC-US 3 20113881 20113881 single base substitution C G exon_variant LIHC-US 3 20113881 20113881 single base substitution C G synonymous_variant P120P 360C>G LIHC-US 3 20153102 20153102 single base substitution G A exon_variant LIHC-US 3 20153102 20153102 single base substitution G A missense_variant C289Y 866G>A LIHC-US 3 20156482 20156482 single base substitution T G splice_donor_variant LIHC-US 3 20181810 20181810 single base substitution G T exon_variant LIHC-US 3 20181810 20181810 single base substitution G T missense_variant R653L 1958G>T LINC-JP 3 20097025 20097025 single base substitution A C intron_variant LINC-JP 3 20097978 20097978 single base substitution A G intron_variant LINC-JP 3 20113719 20113719 single base substitution T C intron_variant LINC-JP 3 20113809 20113809 single base substitution T G intron_variant LINC-JP 3 20129690 20129690 single base substitution A T intron_variant LINC-JP 3 20139031 20139031 single base substitution T A intron_variant LINC-JP 3 20151864 20151864 deletion of <=200bp A - intron_variant LINC-JP 3 20151864 20151864 deletion of <=200bp A - upstream_gene_variant LINC-JP 3 20153058 20153058 single base substitution A G intron_variant LINC-JP 3 20153058 20153058 single base substitution A G upstream_gene_variant LINC-JP 3 20153659 20153659 insertion of <=200bp - T intron_variant LINC-JP 3 20168011 20168011 insertion of <=200bp - A downstream_gene_variant LINC-JP 3 20168011 20168011 insertion of <=200bp - A intron_variant LINC-JP 3 20168011 20168011 insertion of <=200bp - A upstream_gene_variant LINC-JP 3 20168332 20168332 single base substitution A C downstream_gene_variant LINC-JP 3 20168332 20168332 single base substitution A C intron_variant LINC-JP 3 20168332 20168332 single base substitution A C upstream_gene_variant LINC-JP 3 20168848 20168848 single base substitution A T downstream_gene_variant LINC-JP 3 20168848 20168848 single base substitution A T intron_variant LINC-JP 3 20168848 20168848 single base substitution A T upstream_gene_variant LINC-JP 3 20187935 20187935 single base substitution C T exon_variant LINC-JP 3 20187935 20187935 single base substitution C T intron_variant LINC-JP 3 20187935 20187935 single base substitution C T upstream_gene_variant LINC-JP 3 20193896 20193896 single base substitution A T downstream_gene_variant LINC-JP 3 20193896 20193896 single base substitution A T missense_variant Q793L 2378A>T LIRI-JP 3 20084880 20084880 single base substitution G A intron_variant LIRI-JP 3 20086743 20086743 single base substitution C T intron_variant LIRI-JP 3 20089431 20089431 single base substitution A G intron_variant LIRI-JP 3 20091598 20091598 single base substitution G A intron_variant LIRI-JP 3 20095226 20095226 single base substitution A G intron_variant LIRI-JP 3 20096232 20096232 single base substitution A C intron_variant LIRI-JP 3 20099054 20099054 deletion of <=200bp G - intron_variant LIRI-JP 3 20100136 20100136 single base substitution A G intron_variant LIRI-JP 3 20102608 20102608 single base substitution C T intron_variant LIRI-JP 3 20102836 20102836 single base substitution T C intron_variant LIRI-JP 3 20102848 20102848 single base substitution T G intron_variant LIRI-JP 3 20105557 20105557 single base substitution C T intron_variant LIRI-JP 3 20107428 20107428 single base substitution A G intron_variant LIRI-JP 3 20107817 20107817 single base substitution T C intron_variant LIRI-JP 3 20108846 20108846 single base substitution A G intron_variant LIRI-JP 3 20108961 20108961 single base substitution A G intron_variant LIRI-JP 3 20109836 20109836 single base substitution A G intron_variant LIRI-JP 3 20110714 20110714 single base substitution A C intron_variant LIRI-JP 3 20113008 20113008 single base substitution C T intron_variant LIRI-JP 3 20113950 20113950 single base substitution A C splice_region_variant LIRI-JP 3 20115928 20115928 single base substitution T C intron_variant LIRI-JP 3 20116966 20116966 single base substitution G A intron_variant LIRI-JP 3 20116987 20116987 single base substitution C T intron_variant LIRI-JP 3 20117199 20117199 single base substitution G C intron_variant LIRI-JP 3 20117793 20117793 single base substitution G A intron_variant LIRI-JP 3 20118646 20118646 single base substitution A T intron_variant LIRI-JP 3 20120247 20120247 single base substitution A G intron_variant LIRI-JP 3 20121604 20121604 single base substitution A T intron_variant LIRI-JP 3 20121863 20121863 single base substitution A G intron_variant LIRI-JP 3 20122499 20122499 single base substitution C G intron_variant LIRI-JP 3 20122818 20122818 single base substitution T C intron_variant LIRI-JP 3 20124300 20124300 single base substitution G T intron_variant LIRI-JP 3 20124521 20124521 single base substitution A G intron_variant LIRI-JP 3 20124942 20124942 single base substitution A T intron_variant LIRI-JP 3 20125602 20125602 single base substitution G A intron_variant LIRI-JP 3 20126327 20126327 deletion of <=200bp C - intron_variant LIRI-JP 3 20126517 20126517 single base substitution T C intron_variant LIRI-JP 3 20127222 20127222 single base substitution C G intron_variant LIRI-JP 3 20130604 20130604 single base substitution T C intron_variant LIRI-JP 3 20130636 20130636 single base substitution T A intron_variant LIRI-JP 3 20131381 20131381 single base substitution G A intron_variant LIRI-JP 3 20132126 20132126 single base substitution A G intron_variant LIRI-JP 3 20134262 20134262 single base substitution C T intron_variant LIRI-JP 3 20134594 20134594 single base substitution A C intron_variant LIRI-JP 3 20135097 20135097 single base substitution A G intron_variant LIRI-JP 3 20135990 20135990 single base substitution A T intron_variant LIRI-JP 3 20137430 20137430 single base substitution A G intron_variant LIRI-JP 3 20139717 20139717 single base substitution G A intron_variant LIRI-JP 3 20140683 20140683 single base substitution T G intron_variant LIRI-JP 3 20141850 20141850 single base substitution C G intron_variant LIRI-JP 3 20144969 20144969 single base substitution A G downstream_gene_variant LIRI-JP 3 20144969 20144969 single base substitution A G intron_variant LIRI-JP 3 20152767 20152767 single base substitution A G intron_variant LIRI-JP 3 20152767 20152767 single base substitution A G upstream_gene_variant LIRI-JP 3 20153134 20153134 single base substitution C T missense_variant R300W 898C>T LIRI-JP 3 20153134 20153134 single base substitution C T splice_region_variant LIRI-JP 3 20154795 20154795 single base substitution A G intron_variant LIRI-JP 3 20155032 20155032 single base substitution C T intron_variant LIRI-JP 3 20155657 20155657 single base substitution A C intron_variant LIRI-JP 3 20155674 20155674 single base substitution A C intron_variant LIRI-JP 3 20156521 20156521 single base substitution G A intron_variant LIRI-JP 3 20156945 20156945 single base substitution G A intron_variant LIRI-JP 3 20161416 20161416 single base substitution G A intron_variant LIRI-JP 3 20161745 20161745 single base substitution A G intron_variant LIRI-JP 3 20163649 20163649 single base substitution A G intron_variant LIRI-JP 3 20163753 20163753 single base substitution G A intron_variant LIRI-JP 3 20164799 20164799 single base substitution G T downstream_gene_variant LIRI-JP 3 20164799 20164799 single base substitution G T intron_variant LIRI-JP 3 20164799 20164799 single base substitution G T upstream_gene_variant LIRI-JP 3 20165066 20165066 single base substitution A T downstream_gene_variant LIRI-JP 3 20165066 20165066 single base substitution A T intron_variant LIRI-JP 3 20165066 20165066 single base substitution A T upstream_gene_variant LIRI-JP 3 20165386 20165386 single base substitution G C downstream_gene_variant LIRI-JP 3 20165386 20165386 single base substitution G C intron_variant LIRI-JP 3 20165386 20165386 single base substitution G C upstream_gene_variant LIRI-JP 3 20167823 20167823 single base substitution A G downstream_gene_variant LIRI-JP 3 20167823 20167823 single base substitution A G intron_variant LIRI-JP 3 20167823 20167823 single base substitution A G upstream_gene_variant LIRI-JP 3 20170554 20170554 single base substitution A G intron_variant LIRI-JP 3 20171562 20171562 single base substitution T A intron_variant LIRI-JP 3 20174355 20174355 single base substitution A C intron_variant LIRI-JP 3 20174929 20174929 single base substitution T C intron_variant LIRI-JP 3 20178990 20178990 single base substitution G A intron_variant LIRI-JP 3 20179418 20179418 single base substitution T C intron_variant LIRI-JP 3 20180574 20180574 single base substitution A G intron_variant LIRI-JP 3 20180909 20180909 single base substitution A C intron_variant LIRI-JP 3 20181671 20181671 single base substitution T A intron_variant LIRI-JP 3 20182267 20182267 single base substitution A C intron_variant LIRI-JP 3 20183238 20183238 single base substitution T G intron_variant LIRI-JP 3 20183807 20183807 single base substitution A G intron_variant LIRI-JP 3 20185233 20185233 single base substitution G T intron_variant LIRI-JP 3 20185233 20185233 single base substitution G T upstream_gene_variant LIRI-JP 3 20185354 20185354 single base substitution T C intron_variant LIRI-JP 3 20185354 20185354 single base substitution T C upstream_gene_variant LIRI-JP 3 20185749 20185750 deletion of <=200bp AG - intron_variant LIRI-JP 3 20185749 20185750 deletion of <=200bp AG - upstream_gene_variant LIRI-JP 3 20187967 20187967 single base substitution C T exon_variant LIRI-JP 3 20187967 20187967 single base substitution C T intron_variant LIRI-JP 3 20187967 20187967 single base substitution C T upstream_gene_variant LIRI-JP 3 20188471 20188471 single base substitution A T downstream_gene_variant LIRI-JP 3 20188471 20188471 single base substitution A T intron_variant LIRI-JP 3 20188471 20188471 single base substitution A T upstream_gene_variant LIRI-JP 3 20189019 20189019 single base substitution T A downstream_gene_variant LIRI-JP 3 20189019 20189019 single base substitution T A intron_variant LIRI-JP 3 20189019 20189019 single base substitution T A upstream_gene_variant LIRI-JP 3 20195336 20195336 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 20195336 20195336 single base substitution A G downstream_gene_variant LIRI-JP 3 20195974 20195974 single base substitution A T downstream_gene_variant LIRI-JP 3 20196076 20196076 single base substitution C G downstream_gene_variant LIRI-JP 3 20197014 20197014 single base substitution T A downstream_gene_variant LIRI-JP 3 20198842 20198842 single base substitution G A downstream_gene_variant LUSC-KR 3 20081459 20081459 single base substitution C T upstream_gene_variant LUSC-KR 3 20089085 20089085 single base substitution T A intron_variant LUSC-KR 3 20092873 20092873 single base substitution G C intron_variant LUSC-KR 3 20097884 20097884 single base substitution A G intron_variant LUSC-KR 3 20099811 20099811 single base substitution G T intron_variant LUSC-KR 3 20101190 20101190 single base substitution C G intron_variant LUSC-KR 3 20106164 20106164 single base substitution G A intron_variant LUSC-KR 3 20108878 20108878 single base substitution T G intron_variant LUSC-KR 3 20111172 20111172 single base substitution C T intron_variant LUSC-KR 3 20112355 20112355 single base substitution G C intron_variant LUSC-KR 3 20114352 20114352 single base substitution T A intron_variant LUSC-KR 3 20117547 20117547 single base substitution G T intron_variant LUSC-KR 3 20122499 20122499 single base substitution C G intron_variant LUSC-KR 3 20130559 20130559 single base substitution C G intron_variant LUSC-KR 3 20133675 20133675 single base substitution C A intron_variant LUSC-KR 3 20136611 20136611 single base substitution C T intron_variant LUSC-KR 3 20139006 20139006 single base substitution A G intron_variant LUSC-KR 3 20143528 20143528 single base substitution G A downstream_gene_variant LUSC-KR 3 20143528 20143528 single base substitution G A intron_variant LUSC-KR 3 20150615 20150615 single base substitution G C intron_variant LUSC-KR 3 20150615 20150615 single base substitution G C upstream_gene_variant LUSC-KR 3 20152183 20152183 single base substitution A G intron_variant LUSC-KR 3 20152183 20152183 single base substitution A G upstream_gene_variant LUSC-KR 3 20156570 20156570 single base substitution A G intron_variant LUSC-KR 3 20158633 20158633 single base substitution A C intron_variant LUSC-KR 3 20159090 20159090 single base substitution C G intron_variant LUSC-KR 3 20166722 20166722 single base substitution G C downstream_gene_variant LUSC-KR 3 20166722 20166722 single base substitution G C intron_variant LUSC-KR 3 20166722 20166722 single base substitution G C upstream_gene_variant LUSC-KR 3 20168962 20168962 single base substitution G T downstream_gene_variant LUSC-KR 3 20168962 20168962 single base substitution G T missense_variant G557V 1670G>T LUSC-KR 3 20168962 20168962 single base substitution G T upstream_gene_variant LUSC-KR 3 20170079 20170079 single base substitution A T intron_variant LUSC-KR 3 20173099 20173099 single base substitution G T intron_variant LUSC-KR 3 20181615 20181615 single base substitution G T intron_variant LUSC-KR 3 20183486 20183486 single base substitution G T intron_variant LUSC-KR 3 20185223 20185223 single base substitution A T intron_variant LUSC-KR 3 20185223 20185223 single base substitution A T upstream_gene_variant LUSC-KR 3 20186712 20186712 single base substitution C G intron_variant LUSC-KR 3 20186712 20186712 single base substitution C G upstream_gene_variant LUSC-KR 3 20187072 20187072 single base substitution A T intron_variant LUSC-KR 3 20187072 20187072 single base substitution A T upstream_gene_variant LUSC-KR 3 20188936 20188936 single base substitution G A downstream_gene_variant LUSC-KR 3 20188936 20188936 single base substitution G A intron_variant LUSC-KR 3 20188936 20188936 single base substitution G A upstream_gene_variant LUSC-KR 3 20192143 20192143 single base substitution C T downstream_gene_variant LUSC-KR 3 20192143 20192143 single base substitution C T intron_variant LUSC-US 3 20082244 20082244 single base substitution A G exon_variant LUSC-US 3 20082244 20082244 single base substitution A G missense_variant E92G 275A>G LUSC-US 3 20136868 20136868 single base substitution G T exon_variant LUSC-US 3 20136868 20136868 single base substitution G T missense_variant D182Y 544G>T LUSC-US 3 20142869 20142869 single base substitution C T downstream_gene_variant LUSC-US 3 20142869 20142869 single base substitution C T missense_variant R254C 760C>T LUSC-US 3 20178441 20178441 single base substitution G T exon_variant LUSC-US 3 20178441 20178441 single base substitution G T missense_variant G586V 1757G>T LUSC-US 3 20189783 20189783 single base substitution C T downstream_gene_variant LUSC-US 3 20189783 20189783 single base substitution C T exon_variant LUSC-US 3 20189783 20189783 single base substitution C T synonymous_variant I735I 2205C>T MALY-DE 3 20076882 20076882 single base substitution A G upstream_gene_variant MALY-DE 3 20081230 20081230 single base substitution T A upstream_gene_variant MALY-DE 3 20089904 20089904 single base substitution C T intron_variant MALY-DE 3 20108791 20108791 single base substitution C T intron_variant MALY-DE 3 20117311 20117311 single base substitution A T intron_variant MALY-DE 3 20119435 20119435 single base substitution G T intron_variant MALY-DE 3 20144661 20144661 single base substitution T C downstream_gene_variant MALY-DE 3 20144661 20144661 single base substitution T C intron_variant MALY-DE 3 20147931 20147932 deletion of <=200bp AC - intron_variant MALY-DE 3 20149801 20149801 single base substitution T G intron_variant MALY-DE 3 20149801 20149801 single base substitution T G upstream_gene_variant MALY-DE 3 20156107 20156107 single base substitution C T intron_variant MALY-DE 3 20156721 20156721 insertion of <=200bp - T intron_variant MALY-DE 3 20164907 20164907 single base substitution G T downstream_gene_variant MALY-DE 3 20164907 20164907 single base substitution G T intron_variant MALY-DE 3 20164907 20164907 single base substitution G T upstream_gene_variant MALY-DE 3 20166400 20166400 single base substitution G T downstream_gene_variant MALY-DE 3 20166400 20166400 single base substitution G T intron_variant MALY-DE 3 20166400 20166400 single base substitution G T upstream_gene_variant MALY-DE 3 20167258 20167258 single base substitution C T downstream_gene_variant MALY-DE 3 20167258 20167258 single base substitution C T intron_variant MALY-DE 3 20167258 20167258 single base substitution C T upstream_gene_variant MALY-DE 3 20172347 20172348 deletion of <=200bp GT - intron_variant MALY-DE 3 20184584 20184584 single base substitution A T intron_variant MALY-DE 3 20199643 20199643 single base substitution A G downstream_gene_variant MELA-AU 3 20076650 20076671 deletion of <=200bp CTTCATCTAGCCTTTAACGGTG - upstream_gene_variant MELA-AU 3 20076786 20076786 single base substitution A T upstream_gene_variant MELA-AU 3 20076942 20076942 single base substitution G A upstream_gene_variant MELA-AU 3 20077212 20077212 single base substitution T A upstream_gene_variant MELA-AU 3 20077375 20077375 single base substitution C T upstream_gene_variant MELA-AU 3 20077878 20077878 single base substitution G A upstream_gene_variant MELA-AU 3 20077904 20077904 single base substitution G A upstream_gene_variant MELA-AU 3 20078090 20078090 single base substitution G A upstream_gene_variant MELA-AU 3 20078138 20078138 single base substitution A G upstream_gene_variant MELA-AU 3 20078207 20078207 single base substitution C T upstream_gene_variant MELA-AU 3 20078316 20078316 single base substitution G A upstream_gene_variant MELA-AU 3 20078596 20078596 single base substitution G A upstream_gene_variant MELA-AU 3 20078707 20078707 single base substitution G A upstream_gene_variant MELA-AU 3 20078753 20078753 single base substitution G A upstream_gene_variant MELA-AU 3 20079946 20079946 single base substitution C T upstream_gene_variant MELA-AU 3 20080173 20080174 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 20080711 20080711 single base substitution T A upstream_gene_variant MELA-AU 3 20081370 20081370 single base substitution G A upstream_gene_variant MELA-AU 3 20081461 20081461 insertion of <=200bp - C upstream_gene_variant MELA-AU 3 20082671 20082671 single base substitution C T intron_variant MELA-AU 3 20083720 20083720 single base substitution C T intron_variant MELA-AU 3 20084300 20084300 single base substitution C T intron_variant MELA-AU 3 20084756 20084756 single base substitution G A intron_variant MELA-AU 3 20085327 20085327 single base substitution C T intron_variant MELA-AU 3 20085904 20085904 single base substitution C T intron_variant MELA-AU 3 20086821 20086821 single base substitution T G intron_variant MELA-AU 3 20088137 20088137 single base substitution C G intron_variant MELA-AU 3 20088195 20088195 single base substitution C T intron_variant MELA-AU 3 20088653 20088653 single base substitution C T intron_variant MELA-AU 3 20089173 20089173 single base substitution C T intron_variant MELA-AU 3 20089876 20089876 single base substitution T G intron_variant MELA-AU 3 20090003 20090003 single base substitution A G intron_variant MELA-AU 3 20090009 20090009 single base substitution A C intron_variant MELA-AU 3 20090149 20090149 single base substitution C T intron_variant MELA-AU 3 20090791 20090791 single base substitution T C intron_variant MELA-AU 3 20090955 20090955 single base substitution C T intron_variant MELA-AU 3 20091275 20091275 single base substitution T G intron_variant MELA-AU 3 20091719 20091719 single base substitution C T intron_variant MELA-AU 3 20091726 20091726 single base substitution C T intron_variant MELA-AU 3 20092183 20092183 single base substitution C T intron_variant MELA-AU 3 20092277 20092277 single base substitution G A intron_variant MELA-AU 3 20093135 20093135 single base substitution A G intron_variant MELA-AU 3 20093142 20093142 single base substitution G A intron_variant MELA-AU 3 20093712 20093712 single base substitution C T intron_variant MELA-AU 3 20093823 20093823 single base substitution C T intron_variant MELA-AU 3 20094182 20094182 single base substitution G A intron_variant MELA-AU 3 20094392 20094392 single base substitution C T intron_variant MELA-AU 3 20095161 20095161 single base substitution C T intron_variant MELA-AU 3 20096987 20096987 single base substitution C T intron_variant MELA-AU 3 20097169 20097169 single base substitution A T intron_variant MELA-AU 3 20097731 20097731 single base substitution A T intron_variant MELA-AU 3 20098719 20098719 single base substitution T C intron_variant MELA-AU 3 20099281 20099281 single base substitution C T intron_variant MELA-AU 3 20099762 20099762 single base substitution C T intron_variant MELA-AU 3 20100069 20100070 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 20100622 20100622 single base substitution C T intron_variant MELA-AU 3 20100825 20100825 single base substitution G A intron_variant MELA-AU 3 20101151 20101151 single base substitution C T intron_variant MELA-AU 3 20104364 20104364 single base substitution C T intron_variant MELA-AU 3 20104452 20104452 single base substitution C T intron_variant MELA-AU 3 20104941 20104941 single base substitution T C intron_variant MELA-AU 3 20105375 20105375 single base substitution T C intron_variant MELA-AU 3 20105615 20105615 single base substitution C T intron_variant MELA-AU 3 20105812 20105812 single base substitution C A intron_variant MELA-AU 3 20105819 20105819 single base substitution C T intron_variant MELA-AU 3 20105997 20105997 single base substitution C T intron_variant MELA-AU 3 20106165 20106166 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 20106640 20106640 single base substitution C T intron_variant MELA-AU 3 20106887 20106887 single base substitution T C intron_variant MELA-AU 3 20107483 20107483 single base substitution G A intron_variant MELA-AU 3 20109420 20109420 single base substitution A G intron_variant MELA-AU 3 20109530 20109531 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 20110857 20110857 single base substitution C T intron_variant MELA-AU 3 20111774 20111774 single base substitution C T intron_variant MELA-AU 3 20111814 20111814 single base substitution T C intron_variant MELA-AU 3 20112153 20112153 single base substitution G T intron_variant MELA-AU 3 20112607 20112607 single base substitution T C intron_variant MELA-AU 3 20112844 20112844 single base substitution C T intron_variant MELA-AU 3 20113053 20113053 single base substitution C T intron_variant MELA-AU 3 20114653 20114653 single base substitution A G intron_variant MELA-AU 3 20115222 20115222 single base substitution A G intron_variant MELA-AU 3 20115512 20115512 single base substitution C T intron_variant MELA-AU 3 20116420 20116420 single base substitution T C intron_variant MELA-AU 3 20116851 20116851 single base substitution T C intron_variant MELA-AU 3 20117018 20117019 multiple base substitution (>=2bp and <=200bp) TT GG intron_variant MELA-AU 3 20117498 20117498 single base substitution C T intron_variant MELA-AU 3 20117840 20117840 single base substitution C T intron_variant MELA-AU 3 20117848 20117848 single base substitution C T intron_variant MELA-AU 3 20118143 20118143 single base substitution T C intron_variant MELA-AU 3 20118448 20118448 single base substitution G A intron_variant MELA-AU 3 20118731 20118731 single base substitution C T intron_variant MELA-AU 3 20119558 20119559 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 3 20119844 20119844 single base substitution A G intron_variant MELA-AU 3 20120490 20120490 single base substitution C T intron_variant MELA-AU 3 20120553 20120553 single base substitution T A intron_variant MELA-AU 3 20121449 20121449 single base substitution C T intron_variant MELA-AU 3 20121820 20121820 single base substitution C T intron_variant MELA-AU 3 20121825 20121825 single base substitution G A intron_variant MELA-AU 3 20123449 20123449 single base substitution C T intron_variant MELA-AU 3 20124033 20124033 single base substitution C T intron_variant MELA-AU 3 20124179 20124179 single base substitution C T intron_variant MELA-AU 3 20124312 20124312 single base substitution G T intron_variant MELA-AU 3 20124539 20124539 single base substitution C T intron_variant MELA-AU 3 20124887 20124887 single base substitution A T intron_variant MELA-AU 3 20125012 20125012 single base substitution C A intron_variant MELA-AU 3 20125385 20125385 single base substitution T C intron_variant MELA-AU 3 20125870 20125870 single base substitution A C intron_variant MELA-AU 3 20126281 20126282 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 20126335 20126335 single base substitution T A intron_variant MELA-AU 3 20126649 20126649 single base substitution C T intron_variant MELA-AU 3 20127990 20127990 single base substitution G A intron_variant MELA-AU 3 20129008 20129008 single base substitution T A intron_variant MELA-AU 3 20130210 20130210 single base substitution C T intron_variant MELA-AU 3 20130303 20130303 single base substitution T A intron_variant MELA-AU 3 20131872 20131872 single base substitution T A intron_variant MELA-AU 3 20131913 20131913 single base substitution G A intron_variant MELA-AU 3 20132339 20132339 single base substitution C T intron_variant MELA-AU 3 20132367 20132367 single base substitution G A intron_variant MELA-AU 3 20132412 20132412 single base substitution A T intron_variant MELA-AU 3 20132670 20132670 single base substitution C G intron_variant MELA-AU 3 20133219 20133219 single base substitution C T intron_variant MELA-AU 3 20133300 20133300 single base substitution C A intron_variant MELA-AU 3 20133832 20133832 single base substitution C T intron_variant MELA-AU 3 20134131 20134131 single base substitution C T intron_variant MELA-AU 3 20134187 20134187 single base substitution C T intron_variant MELA-AU 3 20134316 20134316 single base substitution C T intron_variant MELA-AU 3 20134589 20134589 single base substitution T G intron_variant MELA-AU 3 20134625 20134625 single base substitution C T intron_variant MELA-AU 3 20135280 20135280 single base substitution C T intron_variant MELA-AU 3 20135360 20135360 single base substitution C T intron_variant MELA-AU 3 20135686 20135686 single base substitution G A intron_variant MELA-AU 3 20136213 20136213 single base substitution T A intron_variant MELA-AU 3 20136539 20136539 single base substitution G A intron_variant MELA-AU 3 20136826 20136826 single base substitution G T exon_variant MELA-AU 3 20136826 20136826 single base substitution G T missense_variant V168L 502G>T MELA-AU 3 20137005 20137005 single base substitution T A intron_variant MELA-AU 3 20137183 20137183 single base substitution C T intron_variant MELA-AU 3 20137332 20137332 single base substitution G A intron_variant MELA-AU 3 20137396 20137396 single base substitution G A intron_variant MELA-AU 3 20138190 20138190 single base substitution C T intron_variant MELA-AU 3 20138249 20138249 single base substitution T G intron_variant MELA-AU 3 20138842 20138842 single base substitution C T intron_variant MELA-AU 3 20138992 20138992 single base substitution C T intron_variant MELA-AU 3 20139022 20139022 single base substitution A T intron_variant MELA-AU 3 20139273 20139273 single base substitution C T intron_variant MELA-AU 3 20139482 20139482 single base substitution G A intron_variant MELA-AU 3 20139921 20139921 single base substitution C T intron_variant MELA-AU 3 20140979 20140979 single base substitution T C intron_variant MELA-AU 3 20141228 20141228 single base substitution T C intron_variant MELA-AU 3 20141643 20141643 single base substitution T G intron_variant MELA-AU 3 20142179 20142179 single base substitution C T intron_variant MELA-AU 3 20142657 20142657 single base substitution T G downstream_gene_variant MELA-AU 3 20142657 20142657 single base substitution T G intron_variant MELA-AU 3 20142766 20142766 single base substitution C T downstream_gene_variant MELA-AU 3 20142766 20142766 single base substitution C T intron_variant MELA-AU 3 20143878 20143878 single base substitution C T downstream_gene_variant MELA-AU 3 20143878 20143878 single base substitution C T intron_variant MELA-AU 3 20144618 20144618 single base substitution C T downstream_gene_variant MELA-AU 3 20144618 20144618 single base substitution C T intron_variant MELA-AU 3 20144743 20144744 deletion of <=200bp TA - downstream_gene_variant MELA-AU 3 20144743 20144744 deletion of <=200bp TA - intron_variant MELA-AU 3 20145104 20145104 single base substitution T C downstream_gene_variant MELA-AU 3 20145104 20145104 single base substitution T C intron_variant MELA-AU 3 20146528 20146528 single base substitution C T downstream_gene_variant MELA-AU 3 20146528 20146528 single base substitution C T intron_variant MELA-AU 3 20148507 20148507 single base substitution A T intron_variant MELA-AU 3 20148507 20148507 single base substitution A T upstream_gene_variant MELA-AU 3 20148798 20148798 single base substitution T C intron_variant MELA-AU 3 20148798 20148798 single base substitution T C upstream_gene_variant MELA-AU 3 20149033 20149033 single base substitution C T intron_variant MELA-AU 3 20149033 20149033 single base substitution C T upstream_gene_variant MELA-AU 3 20150453 20150453 single base substitution C T intron_variant MELA-AU 3 20150453 20150453 single base substitution C T upstream_gene_variant MELA-AU 3 20150546 20150546 single base substitution G C intron_variant MELA-AU 3 20150546 20150546 single base substitution G C upstream_gene_variant MELA-AU 3 20151527 20151527 single base substitution T A intron_variant MELA-AU 3 20151527 20151527 single base substitution T A upstream_gene_variant MELA-AU 3 20151736 20151736 single base substitution G A intron_variant MELA-AU 3 20151736 20151736 single base substitution G A upstream_gene_variant MELA-AU 3 20152929 20152929 single base substitution A T intron_variant MELA-AU 3 20152929 20152929 single base substitution A T upstream_gene_variant MELA-AU 3 20153173 20153173 single base substitution C T intron_variant MELA-AU 3 20153173 20153173 single base substitution C T missense_variant R313C 937C>T MELA-AU 3 20153302 20153302 single base substitution C T intron_variant MELA-AU 3 20153500 20153500 single base substitution C T intron_variant MELA-AU 3 20153544 20153544 single base substitution T G intron_variant MELA-AU 3 20153621 20153621 single base substitution C T intron_variant MELA-AU 3 20153855 20153855 single base substitution C T intron_variant MELA-AU 3 20154427 20154427 single base substitution C T intron_variant MELA-AU 3 20154447 20154447 single base substitution C T intron_variant MELA-AU 3 20154717 20154717 single base substitution C T intron_variant MELA-AU 3 20154840 20154840 single base substitution C T intron_variant MELA-AU 3 20156253 20156253 single base substitution C T intron_variant MELA-AU 3 20156997 20156997 single base substitution T G intron_variant MELA-AU 3 20157227 20157227 single base substitution C T intron_variant MELA-AU 3 20157227 20157228 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 20157933 20157933 single base substitution C T intron_variant MELA-AU 3 20158102 20158102 single base substitution C T intron_variant MELA-AU 3 20159440 20159440 single base substitution C T intron_variant MELA-AU 3 20159555 20159555 single base substitution C T intron_variant MELA-AU 3 20159763 20159763 single base substitution T C intron_variant MELA-AU 3 20160166 20160166 single base substitution C T intron_variant MELA-AU 3 20161232 20161232 single base substitution G A intron_variant MELA-AU 3 20161703 20161703 single base substitution T A intron_variant MELA-AU 3 20162341 20162341 single base substitution G A intron_variant MELA-AU 3 20162390 20162390 single base substitution C T intron_variant MELA-AU 3 20162489 20162489 single base substitution A G intron_variant MELA-AU 3 20163550 20163550 single base substitution G A intron_variant MELA-AU 3 20163921 20163921 single base substitution C T intron_variant MELA-AU 3 20163940 20163940 single base substitution C T intron_variant MELA-AU 3 20164335 20164335 single base substitution C T downstream_gene_variant MELA-AU 3 20164335 20164335 single base substitution C T intron_variant MELA-AU 3 20164335 20164335 single base substitution C T upstream_gene_variant MELA-AU 3 20164345 20164345 single base substitution C T downstream_gene_variant MELA-AU 3 20164345 20164345 single base substitution C T intron_variant MELA-AU 3 20164345 20164345 single base substitution C T upstream_gene_variant MELA-AU 3 20164478 20164478 single base substitution G A downstream_gene_variant MELA-AU 3 20164478 20164478 single base substitution G A intron_variant MELA-AU 3 20164478 20164478 single base substitution G A upstream_gene_variant MELA-AU 3 20164704 20164704 single base substitution C T downstream_gene_variant MELA-AU 3 20164704 20164704 single base substitution C T intron_variant MELA-AU 3 20164704 20164704 single base substitution C T upstream_gene_variant MELA-AU 3 20165058 20165058 single base substitution G A downstream_gene_variant MELA-AU 3 20165058 20165058 single base substitution G A intron_variant MELA-AU 3 20165058 20165058 single base substitution G A upstream_gene_variant MELA-AU 3 20165147 20165147 single base substitution G A downstream_gene_variant MELA-AU 3 20165147 20165147 single base substitution G A intron_variant MELA-AU 3 20165147 20165147 single base substitution G A upstream_gene_variant MELA-AU 3 20166150 20166150 single base substitution G A downstream_gene_variant MELA-AU 3 20166150 20166150 single base substitution G A intron_variant MELA-AU 3 20166150 20166150 single base substitution G A upstream_gene_variant MELA-AU 3 20167552 20167552 single base substitution C T downstream_gene_variant MELA-AU 3 20167552 20167552 single base substitution C T synonymous_variant S523S 1569C>T MELA-AU 3 20167552 20167552 single base substitution C T upstream_gene_variant MELA-AU 3 20167694 20167694 single base substitution C T downstream_gene_variant MELA-AU 3 20167694 20167694 single base substitution C T intron_variant MELA-AU 3 20167694 20167694 single base substitution C T upstream_gene_variant MELA-AU 3 20168143 20168143 single base substitution C T downstream_gene_variant MELA-AU 3 20168143 20168143 single base substitution C T intron_variant MELA-AU 3 20168143 20168143 single base substitution C T upstream_gene_variant MELA-AU 3 20168871 20168871 single base substitution A G downstream_gene_variant MELA-AU 3 20168871 20168871 single base substitution A G intron_variant MELA-AU 3 20168871 20168871 single base substitution A G upstream_gene_variant MELA-AU 3 20169192 20169192 single base substitution G T downstream_gene_variant MELA-AU 3 20169192 20169192 single base substitution G T intron_variant MELA-AU 3 20169896 20169896 single base substitution C T intron_variant MELA-AU 3 20169948 20169948 single base substitution A G intron_variant MELA-AU 3 20170042 20170042 single base substitution C T intron_variant MELA-AU 3 20170205 20170205 single base substitution A G intron_variant MELA-AU 3 20170406 20170406 single base substitution G A intron_variant MELA-AU 3 20170957 20170957 single base substitution C T intron_variant MELA-AU 3 20171093 20171093 single base substitution C T intron_variant MELA-AU 3 20171609 20171609 single base substitution A T intron_variant MELA-AU 3 20172077 20172077 single base substitution G A intron_variant MELA-AU 3 20172971 20172971 single base substitution C T intron_variant MELA-AU 3 20173055 20173055 single base substitution T C intron_variant MELA-AU 3 20173459 20173459 single base substitution C T intron_variant MELA-AU 3 20173563 20173563 single base substitution C T intron_variant MELA-AU 3 20173654 20173654 single base substitution G A intron_variant MELA-AU 3 20173758 20173758 single base substitution C T intron_variant MELA-AU 3 20174141 20174141 single base substitution T C intron_variant MELA-AU 3 20174334 20174334 single base substitution G A intron_variant MELA-AU 3 20174604 20174604 single base substitution T C intron_variant MELA-AU 3 20174779 20174779 single base substitution G A intron_variant MELA-AU 3 20174866 20174866 single base substitution A T intron_variant MELA-AU 3 20176458 20176459 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 3 20176476 20176476 single base substitution C T intron_variant MELA-AU 3 20176911 20176911 single base substitution C T intron_variant MELA-AU 3 20176942 20176942 single base substitution C T intron_variant MELA-AU 3 20177476 20177476 single base substitution G T intron_variant MELA-AU 3 20177716 20177716 single base substitution T C intron_variant MELA-AU 3 20177883 20177883 single base substitution C T intron_variant MELA-AU 3 20178795 20178795 single base substitution C T intron_variant MELA-AU 3 20179556 20179556 single base substitution C T intron_variant MELA-AU 3 20179568 20179568 single base substitution C T intron_variant MELA-AU 3 20179724 20179724 single base substitution C T intron_variant MELA-AU 3 20180024 20180024 single base substitution C T intron_variant MELA-AU 3 20180150 20180150 single base substitution C T intron_variant MELA-AU 3 20180452 20180452 single base substitution C T intron_variant MELA-AU 3 20180748 20180748 single base substitution A T intron_variant MELA-AU 3 20180798 20180798 single base substitution C T intron_variant MELA-AU 3 20181990 20181990 single base substitution C T intron_variant MELA-AU 3 20182137 20182137 single base substitution C T intron_variant MELA-AU 3 20182187 20182187 single base substitution T C intron_variant MELA-AU 3 20182546 20182546 single base substitution C T intron_variant MELA-AU 3 20183924 20183924 single base substitution T A intron_variant MELA-AU 3 20183933 20183933 single base substitution C T intron_variant MELA-AU 3 20184780 20184780 single base substitution G A intron_variant MELA-AU 3 20184780 20184780 single base substitution G A upstream_gene_variant MELA-AU 3 20185497 20185497 single base substitution C T intron_variant MELA-AU 3 20185497 20185497 single base substitution C T upstream_gene_variant MELA-AU 3 20186085 20186085 single base substitution T A intron_variant MELA-AU 3 20186085 20186085 single base substitution T A upstream_gene_variant MELA-AU 3 20186255 20186255 single base substitution A G intron_variant MELA-AU 3 20186255 20186255 single base substitution A G upstream_gene_variant MELA-AU 3 20186337 20186337 single base substitution G A intron_variant MELA-AU 3 20186337 20186337 single base substitution G A upstream_gene_variant MELA-AU 3 20187575 20187575 single base substitution T C intron_variant MELA-AU 3 20187575 20187575 single base substitution T C upstream_gene_variant MELA-AU 3 20187744 20187744 single base substitution G A intron_variant MELA-AU 3 20187744 20187744 single base substitution G A upstream_gene_variant MELA-AU 3 20187875 20187875 single base substitution T C exon_variant MELA-AU 3 20187875 20187875 single base substitution T C missense_variant F691S 2072T>C MELA-AU 3 20187875 20187875 single base substitution T C upstream_gene_variant MELA-AU 3 20188249 20188249 single base substitution C T downstream_gene_variant MELA-AU 3 20188249 20188249 single base substitution C T intron_variant MELA-AU 3 20188249 20188249 single base substitution C T upstream_gene_variant MELA-AU 3 20188255 20188255 single base substitution C T downstream_gene_variant MELA-AU 3 20188255 20188255 single base substitution C T intron_variant MELA-AU 3 20188255 20188255 single base substitution C T upstream_gene_variant MELA-AU 3 20188994 20188994 single base substitution C T downstream_gene_variant MELA-AU 3 20188994 20188994 single base substitution C T intron_variant MELA-AU 3 20188994 20188994 single base substitution C T upstream_gene_variant MELA-AU 3 20189123 20189123 single base substitution C T downstream_gene_variant MELA-AU 3 20189123 20189123 single base substitution C T intron_variant MELA-AU 3 20189123 20189123 single base substitution C T upstream_gene_variant MELA-AU 3 20189521 20189522 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 20189521 20189522 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 20189521 20189522 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 20189579 20189579 single base substitution T C downstream_gene_variant MELA-AU 3 20189579 20189579 single base substitution T C intron_variant MELA-AU 3 20189579 20189579 single base substitution T C upstream_gene_variant MELA-AU 3 20189742 20189742 single base substitution C T downstream_gene_variant MELA-AU 3 20189742 20189742 single base substitution C T exon_variant MELA-AU 3 20189742 20189742 single base substitution C T missense_variant P722S 2164C>T MELA-AU 3 20191150 20191150 single base substitution C T downstream_gene_variant MELA-AU 3 20191150 20191150 single base substitution C T intron_variant MELA-AU 3 20192481 20192481 single base substitution C T downstream_gene_variant MELA-AU 3 20192481 20192481 single base substitution C T intron_variant MELA-AU 3 20195978 20195978 single base substitution C T downstream_gene_variant MELA-AU 3 20197746 20197746 single base substitution T G downstream_gene_variant MELA-AU 3 20199271 20199271 single base substitution G A downstream_gene_variant MELA-AU 3 20199508 20199508 single base substitution C T downstream_gene_variant MELA-AU 3 20200465 20200465 single base substitution T G downstream_gene_variant ORCA-IN 3 20089717 20089717 single base substitution C G intron_variant ORCA-IN 3 20108540 20108540 single base substitution G A intron_variant ORCA-IN 3 20123979 20123979 single base substitution C A intron_variant ORCA-IN 3 20135066 20135066 single base substitution G A intron_variant ORCA-IN 3 20194271 20194271 single base substitution T C 3_prime_UTR_variant ORCA-IN 3 20194271 20194271 single base substitution T C downstream_gene_variant OV-AU 3 20078569 20078569 single base substitution A G upstream_gene_variant OV-AU 3 20080189 20080189 single base substitution C G upstream_gene_variant OV-AU 3 20088500 20088500 single base substitution G C intron_variant OV-AU 3 20094643 20094643 single base substitution G T intron_variant OV-AU 3 20102481 20102481 single base substitution G T intron_variant OV-AU 3 20103643 20103643 single base substitution A T intron_variant OV-AU 3 20104915 20104915 single base substitution G C intron_variant OV-AU 3 20111162 20111162 single base substitution T G intron_variant OV-AU 3 20116187 20116187 single base substitution A G intron_variant OV-AU 3 20116194 20116194 single base substitution T A intron_variant OV-AU 3 20118400 20118400 single base substitution G T intron_variant OV-AU 3 20122906 20122906 single base substitution C T intron_variant OV-AU 3 20127729 20127729 single base substitution C A intron_variant OV-AU 3 20127837 20127837 single base substitution T A intron_variant OV-AU 3 20136781 20136781 single base substitution G A exon_variant OV-AU 3 20136781 20136781 single base substitution G A missense_variant V153M 457G>A OV-AU 3 20137983 20137983 single base substitution G C intron_variant OV-AU 3 20145553 20145553 single base substitution C T downstream_gene_variant OV-AU 3 20145553 20145553 single base substitution C T intron_variant OV-AU 3 20149325 20149325 single base substitution G T intron_variant OV-AU 3 20149325 20149325 single base substitution G T upstream_gene_variant OV-AU 3 20152310 20152310 single base substitution T A intron_variant OV-AU 3 20152310 20152310 single base substitution T A upstream_gene_variant OV-AU 3 20153614 20153614 single base substitution A T intron_variant OV-AU 3 20163285 20163285 single base substitution C T intron_variant OV-AU 3 20169443 20169443 single base substitution C T intron_variant OV-AU 3 20170665 20170665 single base substitution T G intron_variant OV-AU 3 20172150 20172150 single base substitution T G intron_variant OV-AU 3 20173450 20173450 single base substitution T A intron_variant OV-AU 3 20180648 20180648 single base substitution C T intron_variant OV-AU 3 20185607 20185607 single base substitution C T intron_variant OV-AU 3 20185607 20185607 single base substitution C T upstream_gene_variant OV-AU 3 20189496 20189496 single base substitution G A downstream_gene_variant OV-AU 3 20189496 20189496 single base substitution G A splice_region_variant OV-AU 3 20189496 20189496 single base substitution G A upstream_gene_variant OV-AU 3 20194901 20194901 single base substitution G T 3_prime_UTR_variant OV-AU 3 20194901 20194901 single base substitution G T downstream_gene_variant OV-AU 3 20200325 20200325 single base substitution C T downstream_gene_variant PACA-AU 3 20087930 20087930 single base substitution C T intron_variant PACA-AU 3 20091510 20091510 single base substitution G A intron_variant PACA-AU 3 20094530 20094530 single base substitution C T intron_variant PACA-AU 3 20095210 20095210 single base substitution C A intron_variant PACA-AU 3 20111016 20111016 single base substitution C T intron_variant PACA-AU 3 20111744 20111744 single base substitution T G intron_variant PACA-AU 3 20112497 20112498 deletion of <=200bp TA - intron_variant PACA-AU 3 20114714 20114714 single base substitution C T intron_variant PACA-AU 3 20114719 20114719 single base substitution C A intron_variant PACA-AU 3 20117416 20117416 single base substitution A T intron_variant PACA-AU 3 20118796 20118797 deletion of <=200bp TG - intron_variant PACA-AU 3 20120639 20120639 single base substitution C T intron_variant PACA-AU 3 20121038 20121038 single base substitution T G intron_variant PACA-AU 3 20122800 20122800 single base substitution G A intron_variant PACA-AU 3 20123371 20123371 insertion of <=200bp - ATATATATATATATATATAT intron_variant PACA-AU 3 20123371 20123371 insertion of <=200bp - ATATATATATATATATAT intron_variant PACA-AU 3 20123525 20123525 single base substitution T A intron_variant PACA-AU 3 20128032 20128032 single base substitution G A intron_variant PACA-AU 3 20130724 20130724 single base substitution G A intron_variant PACA-AU 3 20140167 20140167 single base substitution T G intron_variant PACA-AU 3 20142870 20142870 single base substitution G A downstream_gene_variant PACA-AU 3 20142870 20142870 single base substitution G A missense_variant R254H 761G>A PACA-AU 3 20143806 20143806 single base substitution A T downstream_gene_variant PACA-AU 3 20143806 20143806 single base substitution A T intron_variant PACA-AU 3 20154551 20154551 single base substitution A T intron_variant PACA-AU 3 20160336 20160336 single base substitution A C intron_variant PACA-AU 3 20163122 20163122 single base substitution G C intron_variant PACA-AU 3 20174975 20174975 single base substitution C A intron_variant PACA-AU 3 20178277 20178277 single base substitution G A intron_variant PACA-AU 3 20184701 20184701 single base substitution G A intron_variant PACA-AU 3 20185948 20185948 insertion of <=200bp - T intron_variant PACA-AU 3 20185948 20185948 insertion of <=200bp - T upstream_gene_variant PACA-AU 3 20187980 20187980 single base substitution T A exon_variant PACA-AU 3 20187980 20187980 single base substitution T A intron_variant PACA-AU 3 20187980 20187980 single base substitution T A upstream_gene_variant PACA-AU 3 20190070 20190070 single base substitution C G downstream_gene_variant PACA-AU 3 20190070 20190070 single base substitution C G exon_variant PACA-AU 3 20190070 20190070 single base substitution C G intron_variant PACA-CA 3 20081501 20081501 deletion of <=200bp G - upstream_gene_variant PACA-CA 3 20084227 20084227 single base substitution C T intron_variant PACA-CA 3 20094976 20094976 single base substitution G A intron_variant PACA-CA 3 20095898 20095898 single base substitution C T intron_variant PACA-CA 3 20096848 20096848 single base substitution G T intron_variant PACA-CA 3 20098909 20098909 single base substitution A G intron_variant PACA-CA 3 20101214 20101214 deletion of <=200bp A - intron_variant PACA-CA 3 20101800 20101800 insertion of <=200bp - A intron_variant PACA-CA 3 20112665 20112665 single base substitution C T intron_variant PACA-CA 3 20114683 20114683 single base substitution T C intron_variant PACA-CA 3 20115423 20115423 single base substitution C T intron_variant PACA-CA 3 20117435 20117435 single base substitution A T intron_variant PACA-CA 3 20120866 20120866 single base substitution T A intron_variant PACA-CA 3 20120955 20120955 single base substitution C G intron_variant PACA-CA 3 20121001 20121001 single base substitution C T intron_variant PACA-CA 3 20122696 20122696 single base substitution C T intron_variant PACA-CA 3 20123561 20123561 single base substitution C G intron_variant PACA-CA 3 20123952 20123952 single base substitution A T intron_variant PACA-CA 3 20125556 20125556 single base substitution G C intron_variant PACA-CA 3 20126691 20126691 single base substitution A T intron_variant PACA-CA 3 20131080 20131080 single base substitution G T intron_variant PACA-CA 3 20131468 20131468 single base substitution C T intron_variant PACA-CA 3 20132910 20132910 insertion of <=200bp - T intron_variant PACA-CA 3 20134075 20134075 single base substitution A G intron_variant PACA-CA 3 20143518 20143518 deletion of <=200bp T - downstream_gene_variant PACA-CA 3 20143518 20143518 deletion of <=200bp T - intron_variant PACA-CA 3 20144583 20144583 single base substitution C T downstream_gene_variant PACA-CA 3 20144583 20144583 single base substitution C T intron_variant PACA-CA 3 20147861 20147861 single base substitution C T intron_variant PACA-CA 3 20147971 20147971 single base substitution A T intron_variant PACA-CA 3 20156023 20156023 single base substitution A G intron_variant PACA-CA 3 20159830 20159830 single base substitution G A intron_variant PACA-CA 3 20162192 20162192 single base substitution C T intron_variant PACA-CA 3 20164051 20164051 insertion of <=200bp - A intron_variant PACA-CA 3 20164051 20164051 insertion of <=200bp - A upstream_gene_variant PACA-CA 3 20167111 20167111 single base substitution C A downstream_gene_variant PACA-CA 3 20167111 20167111 single base substitution C A intron_variant PACA-CA 3 20167111 20167111 single base substitution C A upstream_gene_variant PACA-CA 3 20170766 20170766 single base substitution T A intron_variant PACA-CA 3 20170974 20170974 single base substitution C T intron_variant PACA-CA 3 20171179 20171179 single base substitution C G intron_variant PACA-CA 3 20171831 20171831 single base substitution A G intron_variant PACA-CA 3 20174365 20174365 insertion of <=200bp - A intron_variant PACA-CA 3 20177438 20177438 single base substitution T C intron_variant PACA-CA 3 20178903 20178903 single base substitution A G intron_variant PACA-CA 3 20180074 20180074 deletion of <=200bp A - intron_variant PACA-CA 3 20186423 20186423 single base substitution G A intron_variant PACA-CA 3 20186423 20186423 single base substitution G A upstream_gene_variant PACA-CA 3 20190240 20190240 single base substitution C A downstream_gene_variant PACA-CA 3 20190240 20190240 single base substitution C A exon_variant PACA-CA 3 20190240 20190240 single base substitution C A intron_variant PACA-CA 3 20190367 20190367 single base substitution T A downstream_gene_variant PACA-CA 3 20190367 20190367 single base substitution T A exon_variant PACA-CA 3 20190367 20190367 single base substitution T A intron_variant PACA-CA 3 20192812 20192812 single base substitution T C downstream_gene_variant PACA-CA 3 20192812 20192812 single base substitution T C intron_variant PACA-CA 3 20195977 20195977 single base substitution C G downstream_gene_variant PACA-CA 3 20197698 20197698 insertion of <=200bp - AT downstream_gene_variant PACA-CA 3 20199244 20199244 single base substitution C G downstream_gene_variant PAEN-AU 3 20092713 20092713 single base substitution C A intron_variant PAEN-AU 3 20118939 20118939 single base substitution G A intron_variant PAEN-AU 3 20149403 20149403 single base substitution C T intron_variant PAEN-AU 3 20149403 20149403 single base substitution C T upstream_gene_variant PAEN-AU 3 20151596 20151596 single base substitution T C intron_variant PAEN-AU 3 20151596 20151596 single base substitution T C upstream_gene_variant PAEN-AU 3 20192344 20192344 single base substitution C T downstream_gene_variant PAEN-AU 3 20192344 20192344 single base substitution C T intron_variant PAEN-IT 3 20105417 20105417 single base substitution C A intron_variant PBCA-DE 3 20105025 20105035 deletion of <=200bp TCTTTTTTTTT - intron_variant PBCA-DE 3 20126635 20126635 single base substitution T A intron_variant PBCA-DE 3 20131504 20131504 insertion of <=200bp - A intron_variant PBCA-DE 3 20139600 20139600 deletion of <=200bp A - intron_variant PBCA-DE 3 20140018 20140018 deletion of <=200bp T - intron_variant PBCA-DE 3 20147931 20147932 deletion of <=200bp AC - intron_variant PBCA-DE 3 20148710 20148710 single base substitution A T intron_variant PBCA-DE 3 20148710 20148710 single base substitution A T upstream_gene_variant PBCA-DE 3 20156336 20156336 deletion of <=200bp T - intron_variant PBCA-DE 3 20156336 20156336 insertion of <=200bp - T intron_variant PBCA-DE 3 20159030 20159030 insertion of <=200bp - A intron_variant PBCA-DE 3 20169989 20169989 insertion of <=200bp - T intron_variant PBCA-DE 3 20172347 20172348 deletion of <=200bp GT - intron_variant PBCA-DE 3 20180279 20180279 single base substitution C T intron_variant PBCA-DE 3 20184378 20184379 deletion of <=200bp TG - intron_variant PBCA-DE 3 20189539 20189539 single base substitution T C downstream_gene_variant PBCA-DE 3 20189539 20189539 single base substitution T C intron_variant PBCA-DE 3 20189539 20189539 single base substitution T C upstream_gene_variant PBCA-DE 3 20198544 20198544 deletion of <=200bp G - downstream_gene_variant PBCA-DE 3 20199127 20199127 single base substitution C T downstream_gene_variant PRAD-CA 3 20085495 20085495 single base substitution C T intron_variant PRAD-CA 3 20095847 20095847 single base substitution C T intron_variant PRAD-CA 3 20103970 20103970 single base substitution A G intron_variant PRAD-CA 3 20111021 20111021 single base substitution C T intron_variant PRAD-CA 3 20126693 20126693 single base substitution A T intron_variant PRAD-CA 3 20140556 20140556 single base substitution G T intron_variant PRAD-CA 3 20142914 20142914 single base substitution C T downstream_gene_variant PRAD-CA 3 20142914 20142914 single base substitution C T stop_gained R269* 805C>T PRAD-CA 3 20145637 20145637 single base substitution T C downstream_gene_variant PRAD-CA 3 20145637 20145637 single base substitution T C intron_variant PRAD-CA 3 20150199 20150199 single base substitution C T intron_variant PRAD-CA 3 20150199 20150199 single base substitution C T upstream_gene_variant PRAD-CA 3 20189173 20189173 single base substitution C A downstream_gene_variant PRAD-CA 3 20189173 20189173 single base substitution C A intron_variant PRAD-CA 3 20189173 20189173 single base substitution C A upstream_gene_variant PRAD-CA 3 20198383 20198383 single base substitution C G downstream_gene_variant PRAD-UK 3 20078913 20078913 single base substitution C G upstream_gene_variant PRAD-UK 3 20079159 20079161 deletion of <=200bp TGC - upstream_gene_variant PRAD-UK 3 20083103 20083103 single base substitution C G intron_variant PRAD-UK 3 20101183 20101183 single base substitution C T intron_variant PRAD-UK 3 20108969 20108969 single base substitution T C intron_variant PRAD-UK 3 20112195 20112195 single base substitution A G intron_variant PRAD-UK 3 20120434 20120440 deletion of <=200bp TCCACGA - intron_variant PRAD-UK 3 20132898 20132898 deletion of <=200bp A - intron_variant PRAD-UK 3 20138929 20138929 single base substitution A G intron_variant PRAD-UK 3 20141906 20141906 single base substitution T C intron_variant PRAD-UK 3 20143026 20143026 single base substitution G A downstream_gene_variant PRAD-UK 3 20143026 20143026 single base substitution G A intron_variant PRAD-UK 3 20143027 20143027 single base substitution A C downstream_gene_variant PRAD-UK 3 20143027 20143027 single base substitution A C intron_variant PRAD-UK 3 20145301 20145301 single base substitution A T downstream_gene_variant PRAD-UK 3 20145301 20145301 single base substitution A T intron_variant PRAD-UK 3 20159827 20159827 insertion of <=200bp - TA intron_variant PRAD-UK 3 20164292 20164292 single base substitution C T downstream_gene_variant PRAD-UK 3 20164292 20164292 single base substitution C T missense_variant P470L 1409C>T PRAD-UK 3 20164292 20164292 single base substitution C T upstream_gene_variant PRAD-UK 3 20178277 20178277 single base substitution G A intron_variant READ-US 3 20113930 20113930 single base substitution C T exon_variant READ-US 3 20113930 20113930 single base substitution C T missense_variant R137W 409C>T READ-US 3 20187838 20187838 single base substitution G A exon_variant READ-US 3 20187838 20187838 single base substitution G A missense_variant A679T 2035G>A READ-US 3 20187838 20187838 single base substitution G A upstream_gene_variant READ-US 3 20187847 20187847 single base substitution C T exon_variant READ-US 3 20187847 20187847 single base substitution C T stop_gained R682* 2044C>T READ-US 3 20187847 20187847 single base substitution C T upstream_gene_variant READ-US 3 20187890 20187890 single base substitution G A exon_variant READ-US 3 20187890 20187890 single base substitution G A missense_variant R696Q 2087G>A READ-US 3 20187890 20187890 single base substitution G A upstream_gene_variant RECA-EU 3 20077942 20077942 single base substitution G C upstream_gene_variant RECA-EU 3 20077945 20077945 single base substitution T A upstream_gene_variant RECA-EU 3 20089074 20089074 single base substitution A G intron_variant RECA-EU 3 20092691 20092691 single base substitution C A intron_variant RECA-EU 3 20116926 20116926 single base substitution T C intron_variant RECA-EU 3 20118693 20118693 single base substitution G C intron_variant RECA-EU 3 20131696 20131696 single base substitution T A intron_variant RECA-EU 3 20149119 20149119 single base substitution A T intron_variant RECA-EU 3 20149119 20149119 single base substitution A T upstream_gene_variant RECA-EU 3 20161052 20161052 single base substitution C T intron_variant RECA-EU 3 20161074 20161074 single base substitution C G intron_variant RECA-EU 3 20161098 20161098 single base substitution C A exon_variant RECA-EU 3 20161098 20161098 single base substitution C A missense_variant P387T 1159C>A RECA-EU 3 20161222 20161222 single base substitution T A splice_region_variant RECA-EU 3 20161223 20161223 single base substitution C T splice_region_variant RECA-EU 3 20166262 20166262 single base substitution G T downstream_gene_variant RECA-EU 3 20166262 20166262 single base substitution G T intron_variant RECA-EU 3 20166262 20166262 single base substitution G T upstream_gene_variant RECA-EU 3 20176066 20176066 single base substitution A G intron_variant RECA-EU 3 20177702 20177702 single base substitution C G intron_variant RECA-EU 3 20179229 20179229 single base substitution G T intron_variant RECA-EU 3 20185778 20185778 single base substitution T C intron_variant RECA-EU 3 20185778 20185778 single base substitution T C upstream_gene_variant RECA-EU 3 20198262 20198262 single base substitution C A downstream_gene_variant RECA-EU 3 20199844 20199844 single base substitution T C downstream_gene_variant SKCA-BR 3 20078068 20078068 single base substitution T G upstream_gene_variant SKCA-BR 3 20081579 20081579 single base substitution A G 5_prime_UTR_variant SKCA-BR 3 20081579 20081579 single base substitution A G upstream_gene_variant SKCA-BR 3 20082335 20082335 single base substitution T C intron_variant SKCA-BR 3 20082341 20082341 single base substitution T C intron_variant SKCA-BR 3 20082660 20082660 single base substitution A G intron_variant SKCA-BR 3 20085145 20085145 single base substitution T G intron_variant SKCA-BR 3 20090220 20090220 single base substitution C T intron_variant SKCA-BR 3 20090592 20090592 single base substitution T C intron_variant SKCA-BR 3 20091691 20091692 deletion of <=200bp CA - intron_variant SKCA-BR 3 20092197 20092198 deletion of <=200bp CT - intron_variant SKCA-BR 3 20096735 20096735 single base substitution G A intron_variant SKCA-BR 3 20099603 20099603 single base substitution A G intron_variant SKCA-BR 3 20103430 20103430 single base substitution C T intron_variant SKCA-BR 3 20110071 20110071 single base substitution C G intron_variant SKCA-BR 3 20110461 20110461 single base substitution C T intron_variant SKCA-BR 3 20111801 20111801 insertion of <=200bp - CTTTCTTT intron_variant SKCA-BR 3 20111814 20111814 single base substitution T C intron_variant SKCA-BR 3 20115216 20115216 insertion of <=200bp - AAAAT intron_variant SKCA-BR 3 20115217 20115217 single base substitution T A intron_variant SKCA-BR 3 20116438 20116438 single base substitution G A intron_variant SKCA-BR 3 20120811 20120811 single base substitution T C intron_variant SKCA-BR 3 20123673 20123673 single base substitution C T intron_variant SKCA-BR 3 20124738 20124738 single base substitution A T intron_variant SKCA-BR 3 20125589 20125589 single base substitution G A intron_variant SKCA-BR 3 20127003 20127004 deletion of <=200bp CT - intron_variant SKCA-BR 3 20128286 20128287 deletion of <=200bp AT - intron_variant SKCA-BR 3 20128467 20128467 single base substitution T C intron_variant SKCA-BR 3 20129739 20129739 single base substitution C T intron_variant SKCA-BR 3 20129740 20129740 single base substitution C T intron_variant SKCA-BR 3 20133726 20133727 deletion of <=200bp TA - intron_variant SKCA-BR 3 20133728 20133728 insertion of <=200bp - TTTATTTATTTATTTA intron_variant SKCA-BR 3 20134979 20134979 single base substitution A G intron_variant SKCA-BR 3 20135179 20135179 single base substitution T A intron_variant SKCA-BR 3 20137167 20137167 single base substitution A G intron_variant SKCA-BR 3 20138915 20138915 single base substitution C T intron_variant SKCA-BR 3 20142134 20142134 single base substitution T G intron_variant SKCA-BR 3 20142321 20142321 single base substitution A G intron_variant SKCA-BR 3 20143020 20143020 single base substitution G C downstream_gene_variant SKCA-BR 3 20143020 20143020 single base substitution G C intron_variant SKCA-BR 3 20146574 20146574 single base substitution C T downstream_gene_variant SKCA-BR 3 20146574 20146574 single base substitution C T intron_variant SKCA-BR 3 20147292 20147292 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 3 20147292 20147292 insertion of <=200bp - GA intron_variant SKCA-BR 3 20147790 20147790 single base substitution G A intron_variant SKCA-BR 3 20148453 20148475 deletion of <=200bp GTATATATATATATATATGTATA - intron_variant SKCA-BR 3 20148453 20148475 deletion of <=200bp GTATATATATATATATATGTATA - upstream_gene_variant SKCA-BR 3 20148453 20148481 deletion of <=200bp GTATATATATATATATATGTATATATATA - intron_variant SKCA-BR 3 20148453 20148481 deletion of <=200bp GTATATATATATATATATGTATATATATA - upstream_gene_variant SKCA-BR 3 20148469 20148471 deletion of <=200bp ATG - intron_variant SKCA-BR 3 20148469 20148471 deletion of <=200bp ATG - upstream_gene_variant SKCA-BR 3 20148477 20148477 single base substitution A G intron_variant SKCA-BR 3 20148477 20148477 single base substitution A G upstream_gene_variant SKCA-BR 3 20148620 20148620 single base substitution G A intron_variant SKCA-BR 3 20148620 20148620 single base substitution G A upstream_gene_variant SKCA-BR 3 20155656 20155656 single base substitution G A intron_variant SKCA-BR 3 20159751 20159751 single base substitution A C intron_variant SKCA-BR 3 20159820 20159822 deletion of <=200bp TTG - intron_variant SKCA-BR 3 20160139 20160139 single base substitution G A intron_variant SKCA-BR 3 20160237 20160240 deletion of <=200bp AAAG - intron_variant SKCA-BR 3 20160239 20160240 deletion of <=200bp AG - intron_variant SKCA-BR 3 20160240 20160240 single base substitution G A intron_variant SKCA-BR 3 20166798 20166798 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 3 20166798 20166798 insertion of <=200bp - GA intron_variant SKCA-BR 3 20166798 20166798 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 3 20166937 20166937 single base substitution C G downstream_gene_variant SKCA-BR 3 20166937 20166937 single base substitution C G intron_variant SKCA-BR 3 20166937 20166937 single base substitution C G upstream_gene_variant SKCA-BR 3 20171463 20171463 insertion of <=200bp - AATT intron_variant SKCA-BR 3 20178412 20178412 single base substitution T G intron_variant SKCA-BR 3 20180551 20180551 insertion of <=200bp - AT intron_variant SKCA-BR 3 20182819 20182819 single base substitution T A intron_variant SKCA-BR 3 20183151 20183151 single base substitution T C intron_variant SKCA-BR 3 20183360 20183360 single base substitution G A intron_variant SKCA-BR 3 20184357 20184358 deletion of <=200bp AT - intron_variant SKCA-BR 3 20184377 20184377 insertion of <=200bp - CTG intron_variant SKCA-BR 3 20185716 20185716 single base substitution G A intron_variant SKCA-BR 3 20185716 20185716 single base substitution G A upstream_gene_variant SKCA-BR 3 20186292 20186292 single base substitution C T intron_variant SKCA-BR 3 20186292 20186292 single base substitution C T upstream_gene_variant SKCA-BR 3 20187046 20187053 deletion of <=200bp GTTTTTTT - intron_variant SKCA-BR 3 20187046 20187053 deletion of <=200bp GTTTTTTT - upstream_gene_variant SKCA-BR 3 20187921 20187921 single base substitution T C exon_variant SKCA-BR 3 20187921 20187921 single base substitution T C splice_region_variant SKCA-BR 3 20187921 20187921 single base substitution T C upstream_gene_variant SKCA-BR 3 20188162 20188162 insertion of <=200bp - ATT downstream_gene_variant SKCA-BR 3 20188162 20188162 insertion of <=200bp - ATT intron_variant SKCA-BR 3 20188162 20188162 insertion of <=200bp - ATT upstream_gene_variant SKCA-BR 3 20188163 20188163 single base substitution A T downstream_gene_variant SKCA-BR 3 20188163 20188163 single base substitution A T intron_variant SKCA-BR 3 20188163 20188163 single base substitution A T upstream_gene_variant SKCA-BR 3 20191506 20191506 single base substitution C T downstream_gene_variant SKCA-BR 3 20191506 20191506 single base substitution C T intron_variant SKCA-BR 3 20192686 20192686 single base substitution A G downstream_gene_variant SKCA-BR 3 20192686 20192686 single base substitution A G intron_variant SKCA-BR 3 20200636 20200636 single base substitution A G downstream_gene_variant SKCA-BR 3 20200878 20200878 single base substitution T A downstream_gene_variant SKCM-US 3 20136767 20136767 single base substitution C T exon_variant SKCM-US 3 20136767 20136767 single base substitution C T missense_variant S148F 443C>T SKCM-US 3 20136846 20136846 single base substitution T A exon_variant SKCM-US 3 20136846 20136846 single base substitution T A stop_gained C174* 522T>A SKCM-US 3 20136881 20136881 single base substitution T A exon_variant SKCM-US 3 20136881 20136881 single base substitution T A missense_variant V186D 557T>A SKCM-US 3 20136892 20136892 single base substitution C T exon_variant SKCM-US 3 20136892 20136892 single base substitution C T synonymous_variant L190L 568C>T SKCM-US 3 20141445 20141445 single base substitution A T missense_variant Q223L 668A>T SKCM-US 3 20141445 20141445 single base substitution A T splice_region_variant SKCM-US 3 20142942 20142942 single base substitution A T downstream_gene_variant SKCM-US 3 20142942 20142942 single base substitution A T missense_variant Y278F 833A>T SKCM-US 3 20153262 20153262 single base substitution C T intron_variant SKCM-US 3 20153262 20153262 single base substitution C T synonymous_variant I342I 1026C>T SKCM-US 3 20153274 20153274 single base substitution C T intron_variant SKCM-US 3 20153274 20153274 single base substitution C T synonymous_variant F346F 1038C>T SKCM-US 3 20156418 20156418 single base substitution C T exon_variant SKCM-US 3 20156418 20156418 single base substitution C T missense_variant P363L 1088C>T SKCM-US 3 20161138 20161138 single base substitution C T exon_variant SKCM-US 3 20161138 20161138 single base substitution C T missense_variant S400L 1199C>T SKCM-US 3 20168949 20168949 single base substitution C G downstream_gene_variant SKCM-US 3 20168949 20168949 single base substitution C G missense_variant R553G 1657C>G SKCM-US 3 20168949 20168949 single base substitution C G upstream_gene_variant SKCM-US 3 20168972 20168972 single base substitution C T downstream_gene_variant SKCM-US 3 20168972 20168972 single base substitution C T exon_variant SKCM-US 3 20168972 20168972 single base substitution C T synonymous_variant F560F 1680C>T SKCM-US 3 20178515 20178515 single base substitution G A exon_variant SKCM-US 3 20178515 20178515 single base substitution G A missense_variant E611K 1831G>A SKCM-US 3 20187898 20187898 single base substitution C T exon_variant SKCM-US 3 20187898 20187898 single base substitution C T missense_variant P699S 2095C>T SKCM-US 3 20187898 20187898 single base substitution C T upstream_gene_variant SKCM-US 3 20189750 20189750 single base substitution C T downstream_gene_variant SKCM-US 3 20189750 20189750 single base substitution C T exon_variant SKCM-US 3 20189750 20189750 single base substitution C T synonymous_variant D724D 2172C>T SKCM-US 3 20193934 20193934 single base substitution G T downstream_gene_variant SKCM-US 3 20193934 20193934 single base substitution G T stop_gained E806* 2416G>T STAD-US 3 20113953 20113953 single base substitution T C splice_donor_variant STAD-US 3 20136884 20136884 single base substitution A G exon_variant STAD-US 3 20136884 20136884 single base substitution A G missense_variant Y187C 560A>G STAD-US 3 20141402 20141402 single base substitution T A exon_variant STAD-US 3 20141402 20141402 single base substitution T A missense_variant S209T 625T>A STAD-US 3 20153198 20153198 single base substitution G A intron_variant STAD-US 3 20153198 20153198 single base substitution G A missense_variant R321Q 962G>A STAD-US 3 20164248 20164248 single base substitution C T exon_variant STAD-US 3 20164248 20164248 single base substitution C T synonymous_variant N455N 1365C>T STAD-US 3 20164248 20164248 single base substitution C T upstream_gene_variant STAD-US 3 20167554 20167554 single base substitution A G downstream_gene_variant STAD-US 3 20167554 20167554 single base substitution A G missense_variant H524R 1571A>G STAD-US 3 20167554 20167554 single base substitution A G upstream_gene_variant STAD-US 3 20167584 20167584 single base substitution T G downstream_gene_variant STAD-US 3 20167584 20167584 single base substitution T G missense_variant I534S 1601T>G STAD-US 3 20167584 20167584 single base substitution T G upstream_gene_variant STAD-US 3 20168959 20168959 single base substitution G A downstream_gene_variant STAD-US 3 20168959 20168959 single base substitution G A missense_variant G556D 1667G>A STAD-US 3 20168959 20168959 single base substitution G A upstream_gene_variant STAD-US 3 20181816 20181816 single base substitution C T exon_variant STAD-US 3 20181816 20181816 single base substitution C T missense_variant P655L 1964C>T STAD-US 3 20187855 20187855 single base substitution T G exon_variant STAD-US 3 20187855 20187855 single base substitution T G synonymous_variant V684V 2052T>G STAD-US 3 20187855 20187855 single base substitution T G upstream_gene_variant STAD-US 3 20193869 20193869 single base substitution C G downstream_gene_variant STAD-US 3 20193869 20193869 single base substitution C G missense_variant S784C 2351C>G STAD-US 3 20193927 20193927 insertion of <=200bp - C downstream_gene_variant STAD-US 3 20193927 20193927 insertion of <=200bp - C frameshift_variant N803N? UCEC-US 3 20141413 20141413 single base substitution G T exon_variant UCEC-US 3 20141413 20141413 single base substitution G T missense_variant K212N 636G>T UCEC-US 3 20142827 20142827 single base substitution G T downstream_gene_variant UCEC-US 3 20142827 20142827 single base substitution G T stop_gained E240* 718G>T UCEC-US 3 20153107 20153107 single base substitution G A exon_variant UCEC-US 3 20153107 20153107 single base substitution G A missense_variant V291M 871G>A UCEC-US 3 20153174 20153174 single base substitution G A intron_variant UCEC-US 3 20153174 20153174 single base substitution G A missense_variant R313H 938G>A UCEC-US 3 20164214 20164214 single base substitution G A exon_variant UCEC-US 3 20164214 20164214 single base substitution G A missense_variant R444Q 1331G>A UCEC-US 3 20164214 20164214 single base substitution G A upstream_gene_variant UCEC-US 3 20167452 20167452 single base substitution G A downstream_gene_variant UCEC-US 3 20167452 20167452 single base substitution G A missense_variant R490H 1469G>A UCEC-US 3 20167452 20167452 single base substitution G A upstream_gene_variant UCEC-US 3 20167577 20167577 single base substitution G T downstream_gene_variant UCEC-US 3 20167577 20167577 single base substitution G T stop_gained E532* 1594G>T UCEC-US 3 20167577 20167577 single base substitution G T upstream_gene_variant UCEC-US 3 20167607 20167607 single base substitution T C downstream_gene_variant UCEC-US 3 20167607 20167607 single base substitution T C splice_donor_variant UCEC-US 3 20167607 20167607 single base substitution T C upstream_gene_variant UCEC-US 3 20187830 20187830 single base substitution G T exon_variant UCEC-US 3 20187830 20187830 single base substitution G T missense_variant R676I 2027G>T UCEC-US 3 20187830 20187830 single base substitution G T upstream_gene_variant UCEC-US 3 20187848 20187848 single base substitution G A exon_variant UCEC-US 3 20187848 20187848 single base substitution G A missense_variant R682Q 2045G>A UCEC-US 3 20187848 20187848 single base substitution G A upstream_gene_variant UCEC-US 3 20193899 20193899 single base substitution G A downstream_gene_variant UCEC-US 3 20193899 20193899 single base substitution G A missense_variant R794Q 2381G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Pat_01_B COSM5864239 c.1453G>A p.A485T Substitution - Missense 3:20125944-20125944 + CSB25 COSM5025912 c.677A>T p.N226I Substitution - Missense 3:20101294-20101294 + TCGA-25-1627-01 COSM77927 c.457G>A p.V153M Substitution - Missense 3:20095289-20095289 + TCGA-66-2773-01 COSM730419 c.2205C>T p.I735I Substitution - coding silent 3:20148291-20148291 + TCGA-AP-A0LM-01 COSM1043290 c.938G>A p.R313H Substitution - Missense 3:20111682-20111682 + J30_T COSM3945370 c.1670G>T p.G557V Substitution - Missense 3:20127470-20127470 + TCGA-AA-A010-01 COSM282051 c.669+6A>C p.? Unknown 3:20099960-20099960 + TCGA-AB-3008-03 COSM166619 c.1368G>A p.E456E Substitution - coding silent 3:20122759-20122759 + 8016470 COSM3392311 c.761G>A p.R254H Substitution - Missense 3:20101378-20101378 + PD9544a COSM5799903 c.2371G>C p.D791H Substitution - Missense 3:20152397-20152397 + TCGA-D1-A16Y-01 COSM1043287 c.636G>T p.K212N Substitution - Missense 3:20099921-20099921 + TCGA-HU-A4GC-01 COSM4116590 c.1571A>G p.H524R Substitution - Missense 3:20126062-20126062 + TCGA-BT-A0YX-01 COSM420054 c.256C>G p.P86A Substitution - Missense 3:20040733-20040733 + KYSE-510 COSM4439734 c.2331C>G p.L777L Substitution - coding silent 3:20152357-20152357 + TCGA-F5-6814-01 COSM3427481 c.2035G>A p.A679T Substitution - Missense 3:20146346-20146346 + TCGA-ED-A7XP-01 COSM4913375 c.1958G>T p.R653L Substitution - Missense 3:20140318-20140318 + AOCS-125-1-2 COSM4149821 c.2156+5G>A p.? Unknown 3:20148004-20148004 + YURAY COSM5398996 c.1264G>T p.E422* Substitution - Nonsense 3:20119711-20119711 + C135 COSM4618324 c.830G>T p.G277V Substitution - Missense 3:20101447-20101447 + TCGA-CD-A4MI-01 COSM2948460 c.1964C>T p.P655L Substitution - Missense 3:20140324-20140324 + sysucc-311T COSM2948444 c.1016G>A p.R339Q Substitution - Missense 3:20111760-20111760 + TCGA-EI-6917-01 COSM171921 c.2044C>T p.R682* Substitution - Nonsense 3:20146355-20146355 + TCGA-AA-A00N-01 COSM275628 c.1873G>T p.E625* Substitution - Nonsense 3:20140233-20140233 + B22-Tumor COSM1753138 c.1844G>T p.G615V Substitution - Missense 3:20137036-20137036 + TCGA-LG-A6GG-01 COSM4939641 c.1150+2T>G p.? Unknown 3:20114990-20114990 + TCGA-AC-A23H-01 COSM3823576 c.1704C>T p.F568F Substitution - coding silent 3:20127504-20127504 + TCGA-A6-6781-01 COSM1422135 c.392G>A p.S131N Substitution - Missense 3:20072421-20072421 + TCGA-43-6143-01 COSM730423 c.275A>G p.E92G Substitution - Missense 3:20040752-20040752 + TCGA-BH-A0HP-01 COSM446299 c.1155C>A p.I385I Substitution - coding silent 3:20119602-20119602 + pfg089T COSM4750867 c.821A>G p.D274G Substitution - Missense 3:20101438-20101438 + Gp5D COSM2948458 c.1843G>A p.G615R Substitution - Missense 3:20137035-20137035 + TCGA-BQ-5877-01 COSM3993001 c.2055C>T p.Y685Y Substitution - coding silent 3:20146366-20146366 + TCGA-CD-8536-01 COSM4116586 c.560A>G p.Y187C Substitution - Missense 3:20095392-20095392 + TCGA-CM-6171-01 COSM1422139 c.1525A>G p.K509E Substitution - Missense 3:20126016-20126016 + 3N06-VS-3T06 COSM4978853 c.2327G>A p.R776H Substitution - Missense 3:20152353-20152353 + CSCC-49-T COSM4469648 c.1611C>T p.L537L Substitution - coding silent 3:20126102-20126102 + 587400 COSM1043292 c.1469G>A p.R490H Substitution - Missense 3:20125960-20125960 + CSCC-56-T COSM4492859 c.404C>T p.S135F Substitution - Missense 3:20072433-20072433 + TCGA-EE-A3AE-06 COSM3592027 c.1657C>G p.R553G Substitution - Missense 3:20127457-20127457 + BCB301T COSM4790584 c.2380C>T p.R794* Substitution - Nonsense 3:20152406-20152406 + QC2-25-T2 COSM5653242 c.1768A>T p.M590L Substitution - Missense 3:20136960-20136960 + TCGA-EI-6917-01 COSM3427482 c.2087G>A p.R696Q Substitution - Missense 3:20146398-20146398 + B59-1-Tumor COSM4005520 c.349T>C p.S117P Substitution - Missense 3:20072378-20072378 + P06-1125 COSM245126 c.1981G>A p.V661I Substitution - Missense 3:20140341-20140341 + TCGA-AZ-6601-01 COSM1422140 c.1560C>T p.N520N Substitution - coding silent 3:20126051-20126051 + TCGA-AA-A00N-01 COSM275627 c.1594G>T p.E532* Substitution - Nonsense 3:20126085-20126085 + TCGA-ER-A19F-06 COSM3592022 c.557T>A p.V186D Substitution - Missense 3:20095389-20095389 + TCGA-BR-6452-01 COSM4116589 c.1365C>T p.N455N Substitution - coding silent 3:20122756-20122756 + BN13 COSM1617434 c.2378A>T p.Q793L Substitution - Missense 3:20152404-20152404 + 36 COSM87783 c.409C>T p.R137W Substitution - Missense 3:20072438-20072438 + I2L-P10-Tumor-Organoid COSM5355132 c.664G>T p.E222* Substitution - Nonsense 3:20099949-20099949 + RK308_C01 COSM2948441 c.898C>T p.R300W Substitution - Missense 3:20111642-20111642 + TCGA-A8-A0A6-01 COSM3823577 c.2220+2T>G p.? Unknown 3:20148308-20148308 + TCGA-GM-A2DA-01 COSM5232416 c.2391_2392insA p.N798fs*9 Insertion - Frameshift 3:20152417-20152418 + CSCC-10-T COSM4460430 c.1165C>T p.P389S Substitution - Missense 3:20119612-20119612 + B101-Tumor COSM1753137 c.309G>A p.E103E Substitution - coding silent 3:20072338-20072338 + TCGA-EB-A3Y6-01 COSM3592025 c.1026C>T p.I342I Substitution - coding silent 3:20111770-20111770 + pfg181T COSM3427481 c.2035G>A p.A679T Substitution - Missense 3:20146346-20146346 + TCGA-A2-A3XZ-01 COSM3823575 c.1658G>A p.R553H Substitution - Missense 3:20127458-20127458 + TCGA-CK-5916-01 COSM1422142 c.1907A>T p.Y636F Substitution - Missense 3:20140267-20140267 + TCGA-AA-A00N-01 COSM275626 c.1483G>T p.E495* Substitution - Nonsense 3:20125974-20125974 + TCGA-FR-A3YN-06 COSM3592024 c.833A>T p.Y278F Substitution - Missense 3:20101450-20101450 + CPCG0249-F1 COSM4879983 c.805C>T p.R269* Substitution - Nonsense 3:20101422-20101422 + TCGA-A2-A3XS-01 COSM1422140 c.1560C>T p.N520N Substitution - coding silent 3:20126051-20126051 + PT52 COSM2948439 c.811C>T p.P271S Substitution - Missense 3:20101428-20101428 + TCGA-CD-5813-01 COSM4116594 c.2351C>G p.S784C Substitution - Missense 3:20152377-20152377 + TCGA-56-5898-01 COSM730421 c.760C>T p.R254C Substitution - Missense 3:20101377-20101377 + 35M COSM5581411 c.284G>A p.G95E Substitution - Missense 3:20040761-20040761 + TCGA-43-2578-01 COSM730422 c.544G>T p.D182Y Substitution - Missense 3:20095376-20095376 + TCGA-HU-A4GT-01 COSM4116591 c.1601T>G p.I534S Substitution - Missense 3:20126092-20126092 + cSCCP1 COSM134070 c.1853A>G p.K618R Substitution - Missense 3:20137045-20137045 + TCGA-D9-A6EC-06 COSM4402835 c.2172C>T p.D724D Substitution - coding silent 3:20148258-20148258 + S00830 COSM317495 c.1623-2A>G p.? Unknown 3:20127421-20127421 + SNB75 COSM1670005 c.212G>T p.G71V Substitution - Missense 3:20040689-20040689 + C0001T COSM4152403 c.1276+8C>T p.? Unknown 3:20119731-20119731 + SNUH_G73_S1 COSM1753137 c.309G>A p.E103E Substitution - coding silent 3:20072338-20072338 + TCGA-EP-A2KA-01 COSM4917580 c.866G>A p.C289Y Substitution - Missense 3:20111610-20111610 + HCC2998 COSM2948444 c.1016G>A p.R339Q Substitution - Missense 3:20111760-20111760 + SNUH_G76_S1 COSM4418905 c.309G>T p.E103D Substitution - Missense 3:20072338-20072338 + LUAD-RT-S01702 COSM379302 c.2368G>A p.A790T Substitution - Missense 3:20152394-20152394 + TCGA-EE-A2GP-06 COSM3592030 c.2095C>T p.P699S Substitution - Missense 3:20146406-20146406 + PD4069a COSM5781388 c.1222G>A p.A408T Substitution - Missense 3:20119669-20119669 + 1_RESISTANT COSM1719201 c.1915G>A p.D639N Substitution - Missense 3:20140275-20140275 + 1_PRE-TREATMENT COSM1719201 c.1915G>A p.D639N Substitution - Missense 3:20140275-20140275 + TCGA-EE-A3AC-06 COSM3592029 c.1831G>A p.E611K Substitution - Missense 3:20137023-20137023 + Br27P COSM40442 c.1387G>A p.D463N Substitution - Missense 3:20122778-20122778 + TCGA-D1-A17Q-01 COSM1043294 c.2027G>T p.R676I Substitution - Missense 3:20146338-20146338 + KYSE-410 COSM4439733 c.2032C>A p.Q678K Substitution - Missense 3:20146343-20146343 + HCT116 COSM4612443 c.2297_2298insC p.M768fs*8 Insertion - Frameshift 3:20148479-20148480 + TCGA-B2-5641-01 COSM479983 c.313T>C p.S105P Substitution - Missense 3:20072342-20072342 + ESCC_161 COSM5647657 c.461C>G p.S154* Substitution - Nonsense 3:20095293-20095293 + 49M COSM5591437 c.333_334insA p.N113fs*3 Insertion - Frameshift 3:20072362-20072363 + TCGA-E9-A2JS-01 COSM3823573 c.410G>A p.R137Q Substitution - Missense 3:20072439-20072439 + TCGA-D1-A174-01 COSM1043292 c.1469G>A p.R490H Substitution - Missense 3:20125960-20125960 + ESO-717 COSM1242400 c.2011delA p.K672fs*2 Deletion - Frameshift 3:20146322-20146322 + TCGA-BR-4292-01 COSM4116588 c.962G>A p.R321Q Substitution - Missense 3:20111706-20111706 + TCGA-AX-A0J0-01 COSM1043291 c.1331G>A p.R444Q Substitution - Missense 3:20122722-20122722 + TCGA-CD-8529-01 COSM4116592 c.1667G>A p.G556D Substitution - Missense 3:20127467-20127467 + TCGA-MH-A55Z-01 COSM3993000 c.1301C>G p.S434C Substitution - Missense 3:20122692-20122692 + TCGA-FW-A3R5-06 COSM3915680 c.1199C>T p.S400L Substitution - Missense 3:20119646-20119646 + T-c COSM308403 c.2137C>A p.P713T Substitution - Missense 3:20147980-20147980 + T3202 COSM4694045 c.2409delC p.P805fs*25 Deletion - Frameshift 3:20152435-20152435 + HCC52T COSM1617433 c.430+4A>C p.? Unknown 3:20072463-20072463 + LAU63 COSM232575 c.1774C>T p.H592Y Substitution - Missense 3:20136966-20136966 + HCC001T COSM5808872 c.1489C>T p.H497Y Substitution - Missense 3:20125980-20125980 + TCGA-ER-A193-06 COSM3592028 c.1680C>T p.F560F Substitution - coding silent 3:20127480-20127480 + 2334202 COSM321096 c.1700G>C p.G567A Substitution - Missense 3:20127500-20127500 + 469 COSM4437595 c.658A>G p.S220G Substitution - Missense 3:20099943-20099943 + TCGA-G4-6588-01 COSM1422138 c.1425G>A p.L475L Substitution - coding silent 3:20125916-20125916 + AML5 COSM166619 c.1368G>A p.E456E Substitution - coding silent 3:20122759-20122759 + C658 COSM4443464 c.1339G>T p.G447W Substitution - Missense 3:20122730-20122730 + TCGA-AX-A0J1-01 COSM1043292 c.1469G>A p.R490H Substitution - Missense 3:20125960-20125960 + TCGA-CD-A48C-01 COSM4116587 c.625T>A p.S209T Substitution - Missense 3:20099910-20099910 + Pat_70_B COSM5864238 c.358delC p.R122fs*7 Deletion - Frameshift 3:20072387-20072387 + TCGA-CM-4747-01 COSM3696008 c.1274C>A p.P425Q Substitution - Missense 3:20119721-20119721 + ESO-859 COSM1239183 c.1492G>A p.V498M Substitution - Missense 3:20125983-20125983 + QC2-32-T2 COSM5653963 c.579C>T p.L193L Substitution - coding silent 3:20099864-20099864 + 1N40-VS-1T40 COSM4975384 c.1000C>T p.L334L Substitution - coding silent 3:20111744-20111744 + TCGA-18-3409-01 COSM730420 c.1757G>T p.G586V Substitution - Missense 3:20136949-20136949 + BCB301T COSM4790584 c.2380C>T p.R794* Substitution - Nonsense 3:20152406-20152406 + B101 COSM1753137 c.309G>A p.E103E Substitution - coding silent 3:20072338-20072338 + DN14011 COSM5962296 c.2498G>C p.*833S Nonstop extension 3:20152524-20152524 + TCGA-B5-A11E-01 COSM275627 c.1594G>T p.E532* Substitution - Nonsense 3:20126085-20126085 + XHDG22 COSM4768972 c.1301C>T p.S434F Substitution - Missense 3:20122692-20122692 + TCGA-D3-A51G-06 COSM1537710 c.568C>T p.L190L Substitution - coding silent 3:20095400-20095400 + BD186T COSM2948452 c.1366G>A p.E456K Substitution - Missense 3:20122757-20122757 + S00830 COSM317495 c.1623-2A>G p.? Unknown 3:20127421-20127421 + BN13T COSM1617434 c.2378A>T p.Q793L Substitution - Missense 3:20152404-20152404 + C0001T COSM4152402 c.1276+7T>A p.? Unknown 3:20119730-20119730 + TCGA-F5-6814-01 COSM171921 c.2044C>T p.R682* Substitution - Nonsense 3:20146355-20146355 + PD4601a COSM161832 c.1651G>A p.D551N Substitution - Missense 3:20127451-20127451 + 064 COSM1741305 c.1199C>G p.S400* Substitution - Nonsense 3:20119646-20119646 + 169 COSM3729231 c.2236T>C p.W746R Substitution - Missense 3:20148418-20148418 + ESCC_BICR_016T COSM5439573 c.941C>G p.S314W Substitution - Missense 3:20111685-20111685 + AOCS-084-1-X COSM77927 c.457G>A p.V153M Substitution - Missense 3:20095289-20095289 + TCGA-AC-A23H-01 COSM3823574 c.1083C>G p.N361K Substitution - Missense 3:20114921-20114921 + TCGA-AP-A059-01 COSM1043289 c.871G>A p.V291M Substitution - Missense 3:20111615-20111615 + TCGA-ER-A19G-06 COSM3592026 c.1038C>T p.F346F Substitution - coding silent 3:20111782-20111782 + TCGA-D8-A1X6-01 COSM1485068 c.1607G>A p.R536Q Substitution - Missense 3:20126098-20126098 + 466 COSM4437218 c.1783G>C p.E595Q Substitution - Missense 3:20136975-20136975 + CSCC-18-T COSM4538051 c.2498G>A p.*833* Substitution - coding silent 3:20152524-20152524 + CLL052 COSM1291682 c.1260A>G p.G420G Substitution - coding silent 3:20119707-20119707 + TCGA-BR-8589-01 COSM4116593 c.2052T>G p.V684V Substitution - coding silent 3:20146363-20146363 + TCGA-D1-A16Y-01 COSM1043293 c.1622+2T>C p.? Unknown 3:20126115-20126115 + CSCC-11-T COSM4568915 c.1403T>A p.L468H Substitution - Missense 3:20122794-20122794 + TCGA-BS-A0UA-01 COSM1043292 c.1469G>A p.R490H Substitution - Missense 3:20125960-20125960 + RK308_C01 COSM3767384 c.429A>C p.L143L Substitution - coding silent 3:20072458-20072458 + PT49 COSM1043291 c.1331G>A p.R444Q Substitution - Missense 3:20122722-20122722 + YUSPO COSM182663 c.2045G>A p.R682Q Substitution - Missense 3:20146356-20146356 + TCGA-AP-A056-01 COSM182663 c.2045G>A p.R682Q Substitution - Missense 3:20146356-20146356 + C0001T COSM4152401 c.1159C>A p.P387T Substitution - Missense 3:20119606-20119606 + MO_1232 COSM5547437 c.1510delA p.N504fs*9 Deletion - Frameshift 3:20126001-20126001 + TCGA-GF-A3OT-06 COSM3592023 c.668A>T p.Q223L Substitution - Missense 3:20099953-20099953 + TCGA-F5-6814-01 COSM87783 c.409C>T p.R137W Substitution - Missense 3:20072438-20072438 + BD135T COSM5516257 c.502G>A p.V168M Substitution - Missense 3:20095334-20095334 + TCGA-BP-4782-01 COSM479984 c.991A>G p.K331E Substitution - Missense 3:20111735-20111735 + TCGA-PD-A5DF-01 COSM4909775 c.360C>G p.P120P Substitution - coding silent 3:20072389-20072389 + HCC015T COSM5814550 c.2382A>G p.R794R Substitution - coding silent 3:20152408-20152408 + TCGA-D9-A6EC-06 COSM4404007 c.1088C>T p.P363L Substitution - Missense 3:20114926-20114926 + TCGA-GN-A267-06 COSM3592020 c.443C>T p.S148F Substitution - Missense 3:20095275-20095275 + 2334191 COSM321095 c.871G>T p.V291L Substitution - Missense 3:20111615-20111615 + BK0006 COSM4185564 c.1676G>A p.C559Y Substitution - Missense 3:20127476-20127476 + SC_9047 COSM5555634 c.1499G>A p.G500D Substitution - Missense 3:20125990-20125990 + TCGA-A5-A0VP-01 COSM1043295 c.2381G>A p.R794Q Substitution - Missense 3:20152407-20152407 + PD4975a COSM5768627 c.1609C>T p.L537F Substitution - Missense 3:20126100-20126100 + B22 COSM1753138 c.1844G>T p.G615V Substitution - Missense 3:20137036-20137036 + TCGA-AX-A0J0-01 COSM1043288 c.718G>T p.E240* Substitution - Nonsense 3:20101335-20101335 + 2530678 COSM5885483 c.2298C>T p.F766F Substitution - coding silent 3:20148480-20148480 + 064 COSM1741304 c.1198T>A p.S400T Substitution - Missense 3:20119645-20119645 + TCGA-E2-A10C-01 COSM446300 c.1536G>T p.L512L Substitution - coding silent 3:20126027-20126027 + TCGA-BR-6802-01 COSM4116585 c.430+2T>C p.? Unknown 3:20072461-20072461 + T368 COSM4694044 c.306C>T p.A102A Substitution - coding silent 3:20072335-20072335 + T2269 COSM1043287 c.636G>T p.K212N Substitution - Missense 3:20099921-20099921 + 345973 COSM3726408 c.1260A>C p.G420G Substitution - coding silent 3:20119707-20119707 + TCGA-D3-A1QA-06 COSM3592021 c.522T>A p.C174* Substitution - Nonsense 3:20095354-20095354 + T9 COSM5344445 c.838G>C p.E280Q Substitution - Missense 3:20101455-20101455 + HT115 COSM2948456 c.1583G>A p.R528Q Substitution - Missense 3:20126074-20126074 + 3N02-VS-3T02 COSM321095 c.871G>T p.V291L Substitution - Missense 3:20111615-20111615 + TCGA-ER-A19F-06 COSM3592031 c.2416G>T p.E806* Substitution - Nonsense 3:20152442-20152442 + Gp2D COSM2948458 c.1843G>A p.G615R Substitution - Missense 3:20137035-20137035 + ESO-085 COSM1255199 c.1730C>T p.T577I Substitution - Missense 3:20127530-20127530 + SNUH_G76_S1 COSM4416688 c.1157A>G p.N386S Substitution - Missense 3:20119604-20119604 + TCGA-BP-4971-01 COSM479985 c.1029C>T p.L343L Substitution - coding silent 3:20111773-20111773 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.533055 3p24 602303

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.E92G c.275A>G 3 20082244 LUSC A G Missense p.K331E c.991A>G 3 20153227 RCCC A G SpliceAcceptorSNV . c.1623-2A>G 3 20168913 SCLC A G Synonymous p.G420G c.1260A>G 3 20161199 CLL A T Missense p.N226I c.677A>T 3 20142786 BRCA C A Synonymous p.I385I c.1155C>A 3 20161094 BRCA - C Frameshift p.R122Qfs*19 c.363dupC 3 20113879 LUAD C G Missense p.I637M c.1911C>G 3 20181763 HNSC C G Missense p.P86A c.256C>G 3 20082225 BLCA C G Missense p.R553G c.1657C>G 3 20168949 CM C G Missense p.S784C c.2351C>G 3 20193869 STAD C T IntronicSNV . c.1276+269C>T 3 20161484 CLL C T Missense p.P699S c.2095C>T 3 20187898 CM C T Missense p.R254C c.760C>T 3 20142869 LUSC C T Missense p.S148F c.443C>T 3 20136767 CM C T Missense p.T577I c.1730C>T 3 20169022 ESCA C T Synonymous p.F346F c.1038C>T 3 20153274 CM C T Synonymous p.F560F c.1680C>T 3 20168972 CM C T Synonymous p.F622F c.1866C>T 3 20181718 CM C T Synonymous p.I735I c.2205C>T 3 20189783 LUSC C T Synonymous p.L343L c.1029C>T 3 20153265 RCCC G A IntronicSNV . c.2119+27G>A 3 20187949 CM G A IntronicSNV . c.2305+24G>A 3 20190003 CM G A Missense p.A466T c.1396G>A 3 20164279 LUAD G A Missense p.C100Y c.299G>A 3 20082268 LUAD G A Missense p.D551N c.1651G>A 3 20168943 BRCA G A Missense p.E611K c.1831G>A 3 20178515 CM G A Missense p.R321Q c.962G>A 3 20153198 STAD G A Missense p.R490H c.1469G>A 3 20167452 UCEC G A Missense p.R536Q c.1607G>A 3 20167590 BRCA G A Missense p.R794Q c.2381G>A 3 20193899 UCEC G A Missense p.S744N c.2231G>A 3 20189905 CM G A Missense p.V153M c.457G>A 3 20136781 OV G A Missense p.V498M c.1492G>A 3 20167475 ESCA G A Synonymous p.E456E c.1368G>A 3 20164251 AML G C Missense p.G567A c.1700G>C 3 20168992 SCLC - G Frameshift p.K112Efs*4 c.333dupG 3 20113853 RCCC - G Frameshift p.K112Efs*4 c.333dupG 3 20113853 THCA G T Missense p.D182Y c.544G>T 3 20136868 LUSC G T Missense p.D433Y c.1297G>T 3 20164180 LUAD G T Missense p.K212N c.636G>T 3 20141413 UCEC G T Missense p.V291L c.871G>T 3 20153107 SCLC G T Nonsense p.E806* c.2416G>T 3 20193934 CM G T SpliceDonorSNV . c.1622+1G>T 3 20167606 LUAD T A IntronicSNV . c.431-2566T>A 3 20134189 CLL T A Missense p.V186D c.557T>A 3 20136881 CM T A Nonsense p.C174* c.522T>A 3 20136846 CM T C Missense p.V763A c.2288T>C 3 20189962 STAD T C SpliceDonorSNV . c.1622+2T>C 3 20167607 UCEC T C SpliceDonorSNV . c.430+2T>C 3 20113953 STAD