Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 1 154224048 154224048 + Missense_Mutation SNP T T C TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr1:154224048T>C c.1583T>C c.(1582-1584)gTc>gCc p.V528A ACC 1 154224069 154224069 + Frame_Shift_Del DEL C C - TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr1:154224069delC c.1604delC c.(1603-1605)accfs p.T535fs BLCA 1 154209611 154209611 + Splice_Site SNP G G A TCGA-DK-AA6Q-01A-11D-A391-08 TCGA-DK-AA6Q-10A-01D-A394-08 g.chr1:154209611G>A c.702G>A c.(700-702)acG>acA p.T234T BLCA 1 154215710 154215710 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr1:154215710C>G c.774C>G c.(772-774)atC>atG p.I258M BLCA 1 154218684 154218684 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:154218684G>A c.847G>A c.(847-849)Gac>Aac p.D283N BLCA 1 154223614 154223614 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr1:154223614G>C c.1311G>C c.(1309-1311)gaG>gaC p.E437D BLCA 1 154223693 154223693 + Missense_Mutation SNP C C T TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr1:154223693C>T c.1390C>T c.(1390-1392)Cca>Tca p.P464S BLCA 1 154224054 154224054 + Missense_Mutation SNP C C G TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr1:154224054C>G c.1589C>G c.(1588-1590)tCt>tGt p.S530C BLCA 1 154224128 154224128 + Splice_Site SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr1:154224128A>G c.1663A>G c.(1663-1665)Agt>Ggt p.S555G BLCA 1 154228167 154228167 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr1:154228167C>G c.2093C>G c.(2092-2094)tCt>tGt p.S698C BLCA 1 154228194 154228194 + Nonsense_Mutation SNP C C A TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr1:154228194C>A c.2120C>A c.(2119-2121)tCa>tAa p.S707* BLCA 1 154228194 154228194 + Nonsense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr1:154228194C>G c.2120C>G c.(2119-2121)tCa>tGa p.S707* BLCA 1 154228203 154228203 + Missense_Mutation SNP C C T TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr1:154228203C>T c.2129C>T c.(2128-2130)tCt>tTt p.S710F BLCA 1 154229706 154229706 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:154229706G>A c.2325G>A c.(2323-2325)tcG>tcA p.S775S BLCA 1 154233401 154233401 + Missense_Mutation SNP C C A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr1:154233401C>A c.2612C>A c.(2611-2613)tCc>tAc p.S871Y BLCA 1 154233401 154233401 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr1:154233401C>T c.2612C>T c.(2611-2613)tCc>tTc p.S871F BLCA 1 154233415 154233415 + Missense_Mutation SNP G G T TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chr1:154233415G>T c.2626G>T c.(2626-2628)Gcc>Tcc p.A876S BLCA 1 154234112 154234112 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr1:154234112G>A c.2841G>A c.(2839-2841)gtG>gtA p.V947V BRCA 1 154223668 154223668 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr1:154223668T>C c.1365T>C c.(1363-1365)ccT>ccC p.P455P BRCA 1 154226531 154226531 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:154226531C>G c.1820C>G c.(1819-1821)tCt>tGt p.S607C BRCA 1 154227320 154227320 + Silent SNP C C T TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 g.chr1:154227320C>T c.1863C>T c.(1861-1863)ttC>ttT p.F621F BRCA 1 154227755 154227755 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:154227755G>C c.2037G>C c.(2035-2037)ttG>ttC p.L679F BRCA 1 154227786 154227786 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr1:154227786A>C c.2068A>C c.(2068-2070)Acc>Ccc p.T690P BRCA 1 154229568 154229568 + Silent SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 g.chr1:154229568C>T c.2187C>T c.(2185-2187)ctC>ctT p.L729L BRCA 1 154229865 154229865 + Silent SNP G G A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr1:154229865G>A c.2397G>A c.(2395-2397)ttG>ttA p.L799L BRCA 1 154241261 154241261 + Missense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 g.chr1:154241261C>T c.2999C>T c.(2998-3000)tCc>tTc p.S1000F CESC 1 154201178 154201178 + Missense_Mutation SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 g.chr1:154201178C>T c.256C>T c.(256-258)Ctt>Ttt p.L86F CESC 1 154221753 154221753 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr1:154221753A>C c.1053A>C c.(1051-1053)gaA>gaC p.E351D CESC 1 154223747 154223747 + Nonsense_Mutation SNP C C T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 g.chr1:154223747C>T c.1444C>T c.(1444-1446)Cag>Tag p.Q482* CESC 1 154223781 154223781 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 g.chr1:154223781C>T c.1478C>T c.(1477-1479)tCc>tTc p.S493F CESC 1 154226534 154226534 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr1:154226534C>T c.1823C>T c.(1822-1824)tCa>tTa p.S608L CESC 1 154241393 154241393 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr1:154241393C>T c.3131C>T c.(3130-3132)tCt>tTt p.S1044F COAD 1 154199808 154199808 + Silent SNP T T C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:154199808T>C c.141T>C c.(139-141)gaT>gaC p.D47D COAD 1 154207205 154207205 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:154207205C>T c.418C>T c.(418-420)Cgg>Tgg p.R140W COAD 1 154215749 154215749 + Silent SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:154215749G>A c.813G>A c.(811-813)gcG>gcA p.A271A COAD 1 154223540 154223540 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:154223540G>A c.1237G>A c.(1237-1239)Gca>Aca p.A413T COAD 1 154223658 154223658 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:154223658C>T c.1355C>T c.(1354-1356)cCg>cTg p.P452L COAD 1 154226479 154226479 + Missense_Mutation SNP C C T TCGA-AA-3693-01A-01W-0900-09 TCGA-AA-3693-10A-01W-0900-09 g.chr1:154226479C>T c.1768C>T c.(1768-1770)Cct>Tct p.P590S COAD 1 154228170 154228170 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:154228170C>T c.2096C>T c.(2095-2097)aCg>aTg p.T699M COAD 1 154233433 154233433 + Missense_Mutation SNP C C G TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr1:154233433C>G c.2644C>G c.(2644-2646)Ccc>Gcc p.P882A COAD 1 154233575 154233575 + Missense_Mutation SNP C C A TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr1:154233575C>A c.2786C>A c.(2785-2787)gCt>gAt p.A929D COADREAD 1 154199808 154199808 + Silent SNP T T C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:154199808T>C c.141T>C c.(139-141)gaT>gaC p.D47D COADREAD 1 154207205 154207205 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:154207205C>T c.418C>T c.(418-420)Cgg>Tgg p.R140W COADREAD 1 154215749 154215749 + Silent SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:154215749G>A c.813G>A c.(811-813)gcG>gcA p.A271A COADREAD 1 154218736 154218736 + Missense_Mutation SNP C C G TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr1:154218736C>G c.899C>G c.(898-900)tCt>tGt p.S300C COADREAD 1 154223540 154223540 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:154223540G>A c.1237G>A c.(1237-1239)Gca>Aca p.A413T COADREAD 1 154223658 154223658 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:154223658C>T c.1355C>T c.(1354-1356)cCg>cTg p.P452L COADREAD 1 154224075 154224075 + Missense_Mutation SNP C C T TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr1:154224075C>T c.1610C>T c.(1609-1611)aCc>aTc p.T537I COADREAD 1 154224110 154224110 + Missense_Mutation SNP C C A TCGA-AF-3913-01A-02W-1073-09 TCGA-AF-3913-11A-01W-1073-09 g.chr1:154224110C>A c.1645C>A c.(1645-1647)Ctg>Atg p.L549M COADREAD 1 154226479 154226479 + Missense_Mutation SNP C C T TCGA-AA-3693-01A-01W-0900-09 TCGA-AA-3693-10A-01W-0900-09 g.chr1:154226479C>T c.1768C>T c.(1768-1770)Cct>Tct p.P590S COADREAD 1 154228170 154228170 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:154228170C>T c.2096C>T c.(2095-2097)aCg>aTg p.T699M COADREAD 1 154229840 154229840 + Missense_Mutation SNP T T C TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr1:154229840T>C c.2372T>C c.(2371-2373)cTc>cCc p.L791P COADREAD 1 154233433 154233433 + Missense_Mutation SNP C C G TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr1:154233433C>G c.2644C>G c.(2644-2646)Ccc>Gcc p.P882A COADREAD 1 154233575 154233575 + Missense_Mutation SNP C C A TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr1:154233575C>A c.2786C>A c.(2785-2787)gCt>gAt p.A929D COADREAD 1 154241244 154241244 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:154241244G>A c.2982G>A c.(2980-2982)gaG>gaA p.E994E DLBC 1 154209612 154209612 + Splice_Site SNP A A G TCGA-RQ-A68N-01A-11D-A31X-10 TCGA-RQ-A68N-10A-01D-A31X-10 g.chr1:154209612A>G c.703A>G c.(703-705)Agt>Ggt p.S235G ESCA 1 154199782 154199782 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 g.chr1:154199782G>A c.115G>A c.(115-117)Gca>Aca p.A39T ESCA 1 154215741 154215741 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 g.chr1:154215741C>G c.805C>G c.(805-807)Ctg>Gtg p.L269V ESCA 1 154232491 154232491 + Missense_Mutation SNP G G T TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 g.chr1:154232491G>T c.2564G>T c.(2563-2565)aGc>aTc p.S855I ESCA 1 154233427 154233427 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr1:154233427G>T c.2638G>T c.(2638-2640)Gcc>Tcc p.A880S ESCA 1 154241426 154241426 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr1:154241426G>T c.3164G>T c.(3163-3165)gGc>gTc p.G1055V GBM 1 154207187 154207187 + Missense_Mutation SNP C C T TCGA-76-4927-01A-01D-1486-08 TCGA-76-4927-10A-01D-1486-08 g.chr1:154207187C>T c.400C>T c.(400-402)Cgt>Tgt p.R134C GBM 1 154242707 154242707 + Missense_Mutation SNP C C T TCGA-76-4928-01B-01D-1486-08 TCGA-76-4928-10A-01D-1486-08 g.chr1:154242707C>T c.3200C>T c.(3199-3201)tCc>tTc p.S1067F GBMLGG 1 154207187 154207187 + Missense_Mutation SNP C C T TCGA-76-4927-01A-01D-1486-08 TCGA-76-4927-10A-01D-1486-08 g.chr1:154207187C>T c.400C>T c.(400-402)Cgt>Tgt p.R134C GBMLGG 1 154242707 154242707 + Missense_Mutation SNP C C T TCGA-76-4928-01B-01D-1486-08 TCGA-76-4928-10A-01D-1486-08 g.chr1:154242707C>T c.3200C>T c.(3199-3201)tCc>tTc p.S1067F HNSC 1 154197669 154197669 + Nonsense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr1:154197669C>T c.70C>T c.(70-72)Cag>Tag p.Q24* HNSC 1 154197682 154197682 + Missense_Mutation SNP G G A TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr1:154197682G>A c.83G>A c.(82-84)cGg>cAg p.R28Q HNSC 1 154199771 154199771 + Missense_Mutation SNP A A C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 g.chr1:154199771A>C c.104A>C c.(103-105)cAa>cCa p.Q35P HNSC 1 154221753 154221753 + Silent SNP A A G TCGA-QK-A8Z9-01B-11D-A391-08 TCGA-QK-A8Z9-10A-01D-A394-08 g.chr1:154221753A>G c.1053A>G c.(1051-1053)gaA>gaG p.E351E HNSC 1 154221860 154221862 + In_Frame_Del DEL CCT CCT - TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 g.chr1:154221860_154221862delCCT c.1160_1162delCCT c.(1159-1164)acctcc>acc p.S389del HNSC 1 154223543 154223543 + Missense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 g.chr1:154223543G>A c.1240G>A c.(1240-1242)Gtg>Atg p.V414M HNSC 1 154223669 154223669 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr1:154223669C>T c.1366C>T c.(1366-1368)Ctg>Ttg p.L456L HNSC 1 154223759 154223759 + Nonsense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:154223759A>T c.1456A>T c.(1456-1458)Aaa>Taa p.K486* HNSC 1 154226498 154226498 + Missense_Mutation SNP C C A TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr1:154226498C>A c.1787C>A c.(1786-1788)tCc>tAc p.S596Y HNSC 1 154227358 154227358 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 g.chr1:154227358C>T c.1901C>T c.(1900-1902)tCt>tTt p.S634F HNSC 1 154229858 154229858 + Missense_Mutation SNP C C T TCGA-CR-7390-01A-11D-2012-08 TCGA-CR-7390-10A-01D-2013-08 g.chr1:154229858C>T c.2390C>T c.(2389-2391)cCg>cTg p.P797L HNSC 1 154239020 154239020 + Silent SNP G G A TCGA-IQ-A61E-01A-22D-A30E-08 TCGA-IQ-A61E-10A-01D-A30H-08 g.chr1:154239020G>A c.2946G>A c.(2944-2946)tcG>tcA p.S982S KICH 1 154209571 154209571 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr1:154209571C>T c.662C>T c.(661-663)aCg>aTg p.T221M KIPAN 1 154209571 154209571 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr1:154209571C>T c.662C>T c.(661-663)aCg>aTg p.T221M KIPAN 1 154218831 154218831 + Missense_Mutation SNP A A C TCGA-BP-4804-01A-02D-1373-10 TCGA-BP-4804-11A-01D-1373-10 g.chr1:154218831A>C c.994A>C c.(994-996)Aca>Cca p.T332P KIPAN 1 154221875 154221875 + Missense_Mutation SNP T T C TCGA-UZ-A9PX-01A-11D-A42J-10 TCGA-UZ-A9PX-10A-01D-A42M-10 g.chr1:154221875T>C c.1175T>C c.(1174-1176)aTg>aCg p.M392T KIPAN 1 154227752 154227752 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr1:154227752C>T c.2034C>T c.(2032-2034)ggC>ggT p.G678G KIPAN 1 154229659 154229659 + Missense_Mutation SNP A A C TCGA-BP-5185-01A-01D-1429-08 TCGA-BP-5185-11A-01D-1429-08 g.chr1:154229659A>C c.2278A>C c.(2278-2280)Agt>Cgt p.S760R KIRC 1 154218831 154218831 + Missense_Mutation SNP A A C TCGA-BP-4804-01A-02D-1373-10 TCGA-BP-4804-11A-01D-1373-10 g.chr1:154218831A>C c.994A>C c.(994-996)Aca>Cca p.T332P KIRC 1 154227752 154227752 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr1:154227752C>T c.2034C>T c.(2032-2034)ggC>ggT p.G678G KIRC 1 154229659 154229659 + Missense_Mutation SNP A A C TCGA-BP-5185-01A-01D-1429-08 TCGA-BP-5185-11A-01D-1429-08 g.chr1:154229659A>C c.2278A>C c.(2278-2280)Agt>Cgt p.S760R KIRP 1 154221875 154221875 + Missense_Mutation SNP T T C TCGA-UZ-A9PX-01A-11D-A42J-10 TCGA-UZ-A9PX-10A-01D-A42M-10 g.chr1:154221875T>C c.1175T>C c.(1174-1176)aTg>aCg p.M392T LIHC 1 154201144 154201144 + Silent SNP C C T TCGA-5C-A9VH-01A-11D-A36X-10 TCGA-5C-A9VH-10A-01D-A370-10 g.chr1:154201144C>T c.222C>T c.(220-222)gaC>gaT p.D74D LIHC 1 154218760 154218760 + Missense_Mutation SNP C C A TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr1:154218760C>A c.923C>A c.(922-924)cCt>cAt p.P308H LIHC 1 154221748 154221748 + Missense_Mutation SNP G G T TCGA-G3-A25Z-01A-11D-A16V-10 TCGA-G3-A25Z-10A-01D-A16V-10 g.chr1:154221748G>T c.1048G>T c.(1048-1050)Ggt>Tgt p.G350C LIHC 1 154226401 154226401 + Missense_Mutation SNP A A T TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr1:154226401A>T c.1690A>T c.(1690-1692)Aac>Tac p.N564Y LIHC 1 154226506 154226506 + Missense_Mutation SNP A A T TCGA-DD-AADQ-01A-11D-A40R-10 TCGA-DD-AADQ-10A-01D-A40U-10 g.chr1:154226506A>T c.1795A>T c.(1795-1797)Act>Tct p.T599S LIHC 1 154226519 154226519 + Missense_Mutation SNP C C T TCGA-CC-A9FW-01A-11D-A36X-10 TCGA-CC-A9FW-10A-01D-A370-10 g.chr1:154226519C>T c.1808C>T c.(1807-1809)cCc>cTc p.P603L LUAD 1 154201188 154201188 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr1:154201188G>T c.266G>T c.(265-267)gGa>gTa p.G89V LUAD 1 154207096 154207096 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 g.chr1:154207096G>T c.309G>T c.(307-309)aaG>aaT p.K103N LUAD 1 154207765 154207765 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr1:154207765G>T c.542G>T c.(541-543)aGa>aTa p.R181I LUAD 1 154209593 154209593 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr1:154209593T>G c.684T>G c.(682-684)ttT>ttG p.F228L LUAD 1 154218748 154218748 + Missense_Mutation SNP C C G TCGA-MP-A4SY-01A-21D-A24P-08 TCGA-MP-A4SY-10A-01D-A24P-08 g.chr1:154218748C>G c.911C>G c.(910-912)cCg>cGg p.P304R LUAD 1 154218751 154218751 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr1:154218751C>T c.914C>T c.(913-915)tCt>tTt p.S305F LUAD 1 154218759 154218759 + Missense_Mutation SNP C C G TCGA-44-7660-01A-11D-2063-08 TCGA-44-7660-10A-01D-2063-08 g.chr1:154218759C>G c.922C>G c.(922-924)Cct>Gct p.P308A LUAD 1 154224000 154224000 + Nonsense_Mutation SNP C C G TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr1:154224000C>G c.1535C>G c.(1534-1536)tCa>tGa p.S512* LUAD 1 154224028 154224028 + Missense_Mutation SNP G G C TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr1:154224028G>C c.1563G>C c.(1561-1563)ttG>ttC p.L521F LUAD 1 154224114 154224114 + Missense_Mutation SNP A A G TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 g.chr1:154224114A>G c.1649A>G c.(1648-1650)tAt>tGt p.Y550C LUAD 1 154226440 154226440 + Nonsense_Mutation SNP C C T TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr1:154226440C>T c.1729C>T c.(1729-1731)Cag>Tag p.Q577* LUAD 1 154226537 154226537 + Missense_Mutation SNP C C T TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr1:154226537C>T c.1826C>T c.(1825-1827)tCa>tTa p.S609L LUAD 1 154227664 154227664 + Missense_Mutation SNP C C T TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr1:154227664C>T c.1946C>T c.(1945-1947)tCc>tTc p.S649F LUAD 1 154229620 154229620 + Frame_Shift_Del DEL C C - TCGA-L9-A444-01A-21D-A24D-08 TCGA-L9-A444-10A-01D-A24F-08 g.chr1:154229620delC c.2239delC c.(2239-2241)cccfs p.P748fs LUAD 1 154229658 154229658 + Silent SNP C C G TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr1:154229658C>G c.2277C>G c.(2275-2277)ggC>ggG p.G759G LUAD 1 154231458 154231458 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr1:154231458A>G c.2448A>G c.(2446-2448)caA>caG p.Q816Q LUAD 1 154233385 154233385 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 g.chr1:154233385G>T c.2596G>T c.(2596-2598)Ggc>Tgc p.G866C LUAD 1 154233427 154233427 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 g.chr1:154233427G>T c.2638G>T c.(2638-2640)Gcc>Tcc p.A880S LUAD 1 154239025 154239025 + Missense_Mutation SNP C C T TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr1:154239025C>T c.2951C>T c.(2950-2952)tCt>tTt p.S984F LUAD 1 154241426 154241426 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr1:154241426G>A c.3164G>A c.(3163-3165)gGc>gAc p.G1055D LUAD 1 154241426 154241426 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 g.chr1:154241426G>T c.3164G>T c.(3163-3165)gGc>gTc p.G1055V LUSC 1 154221798 154221798 + Silent SNP C C T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr1:154221798C>T c.1098C>T c.(1096-1098)ttC>ttT p.F366F LUSC 1 154227363 154227363 + Missense_Mutation SNP G G C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr1:154227363G>C c.1906G>C c.(1906-1908)Gaa>Caa p.E636Q LUSC 1 154227733 154227733 + Missense_Mutation SNP A A C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 g.chr1:154227733A>C c.2015A>C c.(2014-2016)cAt>cCt p.H672P LUSC 1 154227736 154227736 + Missense_Mutation SNP C C T TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 g.chr1:154227736C>T c.2018C>T c.(2017-2019)tCa>tTa p.S673L LUSC 1 154227742 154227742 + Missense_Mutation SNP C C A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 g.chr1:154227742C>A c.2024C>A c.(2023-2025)tCc>tAc p.S675Y LUSC 1 154229595 154229595 + Silent SNP C C T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 g.chr1:154229595C>T c.2214C>T c.(2212-2214)acC>acT p.T738T OV 1 154223752 154223752 + Missense_Mutation SNP G G C TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 g.chr1:154223752G>C c.1449G>C c.(1447-1449)caG>caC p.Q483H OV 1 154228196 154228196 + Missense_Mutation SNP A A G TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 g.chr1:154228196A>G c.2122A>G c.(2122-2124)Aca>Gca p.T708A PAAD 1 154224030 154224036 + Frame_Shift_Del DEL AGTTTGG AGTTTGG - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 g.chr1:154224030_154224036delAGTTTGG c.1565_1571delAGTTTGG c.(1564-1572)cagtttgggfs p.QFG522fs PAAD 1 154232488 154232488 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:154232488C>T c.2561C>T c.(2560-2562)gCc>gTc p.A854V READ 1 154218736 154218736 + Missense_Mutation SNP C C G TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr1:154218736C>G c.899C>G c.(898-900)tCt>tGt p.S300C READ 1 154224075 154224075 + Missense_Mutation SNP C C T TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr1:154224075C>T c.1610C>T c.(1609-1611)aCc>aTc p.T537I READ 1 154224110 154224110 + Missense_Mutation SNP C C A TCGA-AF-3913-01A-02W-1073-09 TCGA-AF-3913-11A-01W-1073-09 g.chr1:154224110C>A c.1645C>A c.(1645-1647)Ctg>Atg p.L549M READ 1 154229840 154229840 + Missense_Mutation SNP T T C TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr1:154229840T>C c.2372T>C c.(2371-2373)cTc>cCc p.L791P READ 1 154241244 154241244 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:154241244G>A c.2982G>A c.(2980-2982)gaG>gaA p.E994E SKCM 1 154197657 154197657 + Nonsense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr1:154197657C>T c.58C>T c.(58-60)Caa>Taa p.Q20* SKCM 1 154207104 154207104 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:154207104C>T c.317C>T c.(316-318)tCa>tTa p.S106L SKCM 1 154207139 154207139 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr1:154207139G>A c.352G>A c.(352-354)Gag>Aag p.E118K SKCM 1 154209586 154209586 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr1:154209586G>A c.677G>A c.(676-678)gGc>gAc p.G226D SKCM 1 154218774 154218774 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr1:154218774C>T c.937C>T c.(937-939)Cct>Tct p.P313S SKCM 1 154218775 154218775 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr1:154218775C>T c.938C>T c.(937-939)cCt>cTt p.P313L SKCM 1 154218811 154218811 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr1:154218811C>T c.974C>T c.(973-975)tCa>tTa p.S325L SKCM 1 154223553 154223553 + Missense_Mutation SNP C C T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr1:154223553C>T c.1250C>T c.(1249-1251)cCc>cTc p.P417L SKCM 1 154227725 154227725 + Silent SNP C C A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr1:154227725C>A c.2007C>A c.(2005-2007)acC>acA p.T669T SKCM 1 154229841 154229841 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr1:154229841C>T c.2373C>T c.(2371-2373)ctC>ctT p.L791L SKCM 1 154229841 154229841 + Silent SNP C C T TCGA-D3-A5GS-06A-11D-A27K-08 TCGA-D3-A5GS-10A-01D-A27N-08 g.chr1:154229841C>T c.2373C>T c.(2371-2373)ctC>ctT p.L791L SKCM 1 154229842 154229842 + Missense_Mutation SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr1:154229842C>T c.2374C>T c.(2374-2376)Cct>Tct p.P792S SKCM 1 154229846 154229846 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr1:154229846C>T c.2378C>T c.(2377-2379)cCt>cTt p.P793L SKCM 1 154241257 154241257 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:154241257C>T c.2995C>T c.(2995-2997)Cat>Tat p.H999Y

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 1 154207695 154207695 single base substitution G A missense_variant D151N 451G>A BLCA-CN 1 154207695 154207695 single base substitution G A missense_variant D158N 472G>A BLCA-CN 1 154207695 154207695 single base substitution G A missense_variant D169N 505G>A BLCA-CN 1 154248165 154248165 single base substitution C T downstream_gene_variant BLCA-US 1 154223614 154223614 single base substitution G C downstream_gene_variant BLCA-US 1 154223614 154223614 single base substitution G C missense_variant E437D 1311G>C BLCA-US 1 154223614 154223614 single base substitution G C missense_variant E448D 1344G>C BLCA-US 1 154223614 154223614 single base substitution G C upstream_gene_variant BLCA-US 1 154224128 154224128 single base substitution A G downstream_gene_variant BLCA-US 1 154224128 154224128 single base substitution A G missense_variant S555G 1663A>G BLCA-US 1 154224128 154224128 single base substitution A G missense_variant S566G 1696A>G BLCA-US 1 154224128 154224128 single base substitution A G upstream_gene_variant BLCA-US 1 154233401 154233401 single base substitution C A downstream_gene_variant BLCA-US 1 154233401 154233401 single base substitution C A exon_variant BLCA-US 1 154233401 154233401 single base substitution C A missense_variant S149Y 446C>A BLCA-US 1 154233401 154233401 single base substitution C A missense_variant S201Y 602C>A BLCA-US 1 154233401 154233401 single base substitution C A missense_variant S871Y 2612C>A BLCA-US 1 154233401 154233401 single base substitution C A missense_variant S882Y 2645C>A BLCA-US 1 154233401 154233401 single base substitution C A upstream_gene_variant BLCA-US 1 154234112 154234112 single base substitution G A downstream_gene_variant BLCA-US 1 154234112 154234112 single base substitution G A exon_variant BLCA-US 1 154234112 154234112 single base substitution G A synonymous_variant V225V 675G>A BLCA-US 1 154234112 154234112 single base substitution G A synonymous_variant V277V 831G>A BLCA-US 1 154234112 154234112 single base substitution G A synonymous_variant V947V 2841G>A BLCA-US 1 154234112 154234112 single base substitution G A synonymous_variant V958V 2874G>A BLCA-US 1 154234112 154234112 single base substitution G A upstream_gene_variant BLCA-US 1 154245817 154245817 single base substitution G A downstream_gene_variant BLCA-US 1 154245864 154245866 deletion of <=200bp GAA - downstream_gene_variant BRCA-EU 1 154188103 154188103 single base substitution C G upstream_gene_variant BRCA-EU 1 154188661 154188661 single base substitution C G upstream_gene_variant BRCA-EU 1 154188762 154188762 single base substitution G C upstream_gene_variant BRCA-EU 1 154189974 154189974 single base substitution T G upstream_gene_variant BRCA-EU 1 154190477 154190477 single base substitution C G upstream_gene_variant BRCA-EU 1 154190522 154190522 single base substitution C T upstream_gene_variant BRCA-EU 1 154190625 154190625 single base substitution G A upstream_gene_variant BRCA-EU 1 154191121 154191121 single base substitution A T upstream_gene_variant BRCA-EU 1 154191258 154191258 single base substitution C G upstream_gene_variant BRCA-EU 1 154192156 154192156 single base substitution C T upstream_gene_variant BRCA-EU 1 154192167 154192192 deletion of <=200bp AGTGCCTGCTCAACTTAGTAAGTACA - upstream_gene_variant BRCA-EU 1 154192578 154192578 single base substitution G A upstream_gene_variant BRCA-EU 1 154192938 154192938 single base substitution C T intron_variant BRCA-EU 1 154192938 154192938 single base substitution C T upstream_gene_variant BRCA-EU 1 154193002 154193002 single base substitution G C intron_variant BRCA-EU 1 154193002 154193002 single base substitution G C upstream_gene_variant BRCA-EU 1 154193722 154193722 single base substitution T C intron_variant BRCA-EU 1 154193722 154193722 single base substitution T C upstream_gene_variant BRCA-EU 1 154194120 154194120 deletion of <=200bp G - intron_variant BRCA-EU 1 154194120 154194120 deletion of <=200bp G - upstream_gene_variant BRCA-EU 1 154194628 154194628 deletion of <=200bp T - intron_variant BRCA-EU 1 154194628 154194628 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 154195047 154195047 single base substitution C G intron_variant BRCA-EU 1 154195047 154195047 single base substitution C G upstream_gene_variant BRCA-EU 1 154195274 154195274 single base substitution C G intron_variant BRCA-EU 1 154195274 154195274 single base substitution C G upstream_gene_variant BRCA-EU 1 154195896 154195896 single base substitution A C intron_variant BRCA-EU 1 154195896 154195896 single base substitution A C upstream_gene_variant BRCA-EU 1 154197308 154197308 single base substitution C T intron_variant BRCA-EU 1 154197308 154197308 single base substitution C T upstream_gene_variant BRCA-EU 1 154197766 154197766 single base substitution C T intron_variant BRCA-EU 1 154199308 154199308 deletion of <=200bp T - intron_variant BRCA-EU 1 154199705 154199705 single base substitution C G intron_variant BRCA-EU 1 154199748 154199748 single base substitution C G intron_variant BRCA-EU 1 154199999 154199999 single base substitution C G intron_variant BRCA-EU 1 154200220 154200220 single base substitution C T intron_variant BRCA-EU 1 154200732 154200732 single base substitution C G intron_variant BRCA-EU 1 154200852 154200852 single base substitution C A intron_variant BRCA-EU 1 154200965 154200965 single base substitution C T intron_variant BRCA-EU 1 154201302 154201302 single base substitution T C intron_variant BRCA-EU 1 154201564 154201564 single base substitution G A intron_variant BRCA-EU 1 154201571 154201571 deletion of <=200bp T - intron_variant BRCA-EU 1 154202387 154202387 single base substitution C T intron_variant BRCA-EU 1 154202416 154202416 single base substitution C G intron_variant BRCA-EU 1 154204370 154204370 single base substitution C G intron_variant BRCA-EU 1 154205384 154205384 single base substitution G C intron_variant BRCA-EU 1 154205393 154205393 single base substitution C G intron_variant BRCA-EU 1 154206087 154206087 deletion of <=200bp C - intron_variant BRCA-EU 1 154206244 154206244 single base substitution C G intron_variant BRCA-EU 1 154207168 154207168 single base substitution C T synonymous_variant D127D 381C>T BRCA-EU 1 154207205 154207205 single base substitution C T missense_variant R140W 418C>T BRCA-EU 1 154207483 154207483 single base substitution C T intron_variant BRCA-EU 1 154208173 154208173 single base substitution A G downstream_gene_variant BRCA-EU 1 154208173 154208173 single base substitution A G intron_variant BRCA-EU 1 154208482 154208482 single base substitution G T downstream_gene_variant BRCA-EU 1 154208482 154208482 single base substitution G T intron_variant BRCA-EU 1 154208796 154208796 single base substitution C A downstream_gene_variant BRCA-EU 1 154208796 154208796 single base substitution C A intron_variant BRCA-EU 1 154209837 154209837 single base substitution A C downstream_gene_variant BRCA-EU 1 154209837 154209837 single base substitution A C intron_variant BRCA-EU 1 154210129 154210129 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 154210129 154210129 deletion of <=200bp T - intron_variant BRCA-EU 1 154210777 154210777 single base substitution T C downstream_gene_variant BRCA-EU 1 154210777 154210777 single base substitution T C intron_variant BRCA-EU 1 154210777 154210777 single base substitution T C upstream_gene_variant BRCA-EU 1 154210932 154210932 single base substitution C T downstream_gene_variant BRCA-EU 1 154210932 154210932 single base substitution C T intron_variant BRCA-EU 1 154210932 154210932 single base substitution C T upstream_gene_variant BRCA-EU 1 154211315 154211315 single base substitution C G downstream_gene_variant BRCA-EU 1 154211315 154211315 single base substitution C G intron_variant BRCA-EU 1 154211315 154211315 single base substitution C G upstream_gene_variant BRCA-EU 1 154211479 154211479 single base substitution A C downstream_gene_variant BRCA-EU 1 154211479 154211479 single base substitution A C intron_variant BRCA-EU 1 154211479 154211479 single base substitution A C upstream_gene_variant BRCA-EU 1 154211559 154211559 single base substitution C G downstream_gene_variant BRCA-EU 1 154211559 154211559 single base substitution C G intron_variant BRCA-EU 1 154211559 154211559 single base substitution C G upstream_gene_variant BRCA-EU 1 154212183 154212183 single base substitution T A downstream_gene_variant BRCA-EU 1 154212183 154212183 single base substitution T A intron_variant BRCA-EU 1 154212183 154212183 single base substitution T A upstream_gene_variant BRCA-EU 1 154213095 154213095 single base substitution C G downstream_gene_variant BRCA-EU 1 154213095 154213095 single base substitution C G intron_variant BRCA-EU 1 154213095 154213095 single base substitution C G upstream_gene_variant BRCA-EU 1 154213548 154213548 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 154213548 154213548 deletion of <=200bp T - intron_variant BRCA-EU 1 154213548 154213548 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 154213901 154213901 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 154213901 154213901 deletion of <=200bp A - intron_variant BRCA-EU 1 154213901 154213901 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 154214044 154214053 deletion of <=200bp AGGTATTCCC - downstream_gene_variant BRCA-EU 1 154214044 154214053 deletion of <=200bp AGGTATTCCC - splice_region_variant BRCA-EU 1 154214044 154214053 deletion of <=200bp AGGTATTCCC - upstream_gene_variant BRCA-EU 1 154214045 154214045 single base substitution G C downstream_gene_variant BRCA-EU 1 154214045 154214045 single base substitution G C splice_region_variant BRCA-EU 1 154214045 154214045 single base substitution G C upstream_gene_variant BRCA-EU 1 154214566 154214566 single base substitution G C downstream_gene_variant BRCA-EU 1 154214566 154214566 single base substitution G C intron_variant BRCA-EU 1 154214566 154214566 single base substitution G C upstream_gene_variant BRCA-EU 1 154214628 154214628 single base substitution G T intron_variant BRCA-EU 1 154214628 154214628 single base substitution G T upstream_gene_variant BRCA-EU 1 154215160 154215160 single base substitution C G intron_variant BRCA-EU 1 154215160 154215160 single base substitution C G upstream_gene_variant BRCA-EU 1 154215332 154215332 single base substitution G C intron_variant BRCA-EU 1 154215332 154215332 single base substitution G C upstream_gene_variant BRCA-EU 1 154215878 154215878 single base substitution A G downstream_gene_variant BRCA-EU 1 154215878 154215878 single base substitution A G intron_variant BRCA-EU 1 154216094 154216094 single base substitution G T downstream_gene_variant BRCA-EU 1 154216094 154216094 single base substitution G T intron_variant BRCA-EU 1 154216951 154216951 single base substitution C G downstream_gene_variant BRCA-EU 1 154216951 154216951 single base substitution C G intron_variant BRCA-EU 1 154217713 154217713 single base substitution C G downstream_gene_variant BRCA-EU 1 154217713 154217713 single base substitution C G intron_variant BRCA-EU 1 154219549 154219549 single base substitution G A downstream_gene_variant BRCA-EU 1 154219549 154219549 single base substitution G A intron_variant BRCA-EU 1 154220206 154220206 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 154220206 154220206 deletion of <=200bp A - intron_variant BRCA-EU 1 154220214 154220214 single base substitution A T downstream_gene_variant BRCA-EU 1 154220214 154220214 single base substitution A T intron_variant BRCA-EU 1 154220215 154220215 single base substitution T A downstream_gene_variant BRCA-EU 1 154220215 154220215 single base substitution T A intron_variant BRCA-EU 1 154220452 154220452 insertion of <=200bp - T downstream_gene_variant BRCA-EU 1 154220452 154220452 insertion of <=200bp - T intron_variant BRCA-EU 1 154220904 154220904 single base substitution G C downstream_gene_variant BRCA-EU 1 154220904 154220904 single base substitution G C intron_variant BRCA-EU 1 154221775 154221775 single base substitution G A downstream_gene_variant BRCA-EU 1 154221775 154221775 single base substitution G A exon_variant BRCA-EU 1 154221775 154221775 single base substitution G A missense_variant G359S 1075G>A BRCA-EU 1 154221775 154221775 single base substitution G A missense_variant G370S 1108G>A BRCA-EU 1 154221993 154221993 single base substitution G C downstream_gene_variant BRCA-EU 1 154221993 154221993 single base substitution G C intron_variant BRCA-EU 1 154222148 154222148 single base substitution A G downstream_gene_variant BRCA-EU 1 154222148 154222148 single base substitution A G intron_variant BRCA-EU 1 154222148 154222148 single base substitution A G upstream_gene_variant BRCA-EU 1 154222178 154222178 single base substitution G A downstream_gene_variant BRCA-EU 1 154222178 154222178 single base substitution G A intron_variant BRCA-EU 1 154222178 154222178 single base substitution G A upstream_gene_variant BRCA-EU 1 154223023 154223023 single base substitution T G downstream_gene_variant BRCA-EU 1 154223023 154223023 single base substitution T G intron_variant BRCA-EU 1 154223023 154223023 single base substitution T G upstream_gene_variant BRCA-EU 1 154223232 154223232 single base substitution A G downstream_gene_variant BRCA-EU 1 154223232 154223232 single base substitution A G intron_variant BRCA-EU 1 154223232 154223232 single base substitution A G upstream_gene_variant BRCA-EU 1 154223609 154223609 single base substitution C T downstream_gene_variant BRCA-EU 1 154223609 154223609 single base substitution C T stop_gained Q436* 1306C>T BRCA-EU 1 154223609 154223609 single base substitution C T stop_gained Q447* 1339C>T BRCA-EU 1 154223609 154223609 single base substitution C T upstream_gene_variant BRCA-EU 1 154223664 154223666 deletion of <=200bp CTC - downstream_gene_variant BRCA-EU 1 154223664 154223666 deletion of <=200bp CTC - inframe_deletion SP454S BRCA-EU 1 154223664 154223666 deletion of <=200bp CTC - inframe_deletion SP465S BRCA-EU 1 154223664 154223666 deletion of <=200bp CTC - upstream_gene_variant BRCA-EU 1 154224069 154224069 deletion of <=200bp C - downstream_gene_variant BRCA-EU 1 154224069 154224069 deletion of <=200bp C - frameshift_variant T535 BRCA-EU 1 154224069 154224069 deletion of <=200bp C - frameshift_variant T546 BRCA-EU 1 154224069 154224069 deletion of <=200bp C - upstream_gene_variant BRCA-EU 1 154224458 154224458 insertion of <=200bp - T downstream_gene_variant BRCA-EU 1 154224458 154224458 insertion of <=200bp - T intron_variant BRCA-EU 1 154224458 154224458 insertion of <=200bp - T upstream_gene_variant BRCA-EU 1 154228051 154228051 single base substitution C A downstream_gene_variant BRCA-EU 1 154228051 154228051 single base substitution C A intron_variant BRCA-EU 1 154228051 154228051 single base substitution C A upstream_gene_variant BRCA-EU 1 154229133 154229133 single base substitution G A intron_variant BRCA-EU 1 154229133 154229133 single base substitution G A upstream_gene_variant BRCA-EU 1 154229482 154229482 single base substitution G T intron_variant BRCA-EU 1 154229482 154229482 single base substitution G T upstream_gene_variant BRCA-EU 1 154230380 154230380 single base substitution C G downstream_gene_variant BRCA-EU 1 154230380 154230380 single base substitution C G intron_variant BRCA-EU 1 154230380 154230380 single base substitution C G upstream_gene_variant BRCA-EU 1 154230497 154230497 single base substitution G C downstream_gene_variant BRCA-EU 1 154230497 154230497 single base substitution G C intron_variant BRCA-EU 1 154230497 154230497 single base substitution G C upstream_gene_variant BRCA-EU 1 154231706 154231706 single base substitution C T downstream_gene_variant BRCA-EU 1 154231706 154231706 single base substitution C T intron_variant BRCA-EU 1 154231706 154231706 single base substitution C T upstream_gene_variant BRCA-EU 1 154231834 154231834 insertion of <=200bp - T downstream_gene_variant BRCA-EU 1 154231834 154231834 insertion of <=200bp - T intron_variant BRCA-EU 1 154231834 154231834 insertion of <=200bp - T upstream_gene_variant BRCA-EU 1 154232276 154232276 single base substitution G T downstream_gene_variant BRCA-EU 1 154232276 154232276 single base substitution G T exon_variant BRCA-EU 1 154232276 154232276 single base substitution G T intron_variant BRCA-EU 1 154232276 154232276 single base substitution G T upstream_gene_variant BRCA-EU 1 154232338 154232338 single base substitution C G downstream_gene_variant BRCA-EU 1 154232338 154232338 single base substitution C G exon_variant BRCA-EU 1 154232338 154232338 single base substitution C G intron_variant BRCA-EU 1 154232338 154232338 single base substitution C G upstream_gene_variant BRCA-EU 1 154232819 154232819 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 154232819 154232819 deletion of <=200bp A - intron_variant BRCA-EU 1 154232819 154232819 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 154233457 154233457 single base substitution C T downstream_gene_variant BRCA-EU 1 154233457 154233457 single base substitution C T exon_variant BRCA-EU 1 154233457 154233457 single base substitution C T missense_variant H168Y 502C>T BRCA-EU 1 154233457 154233457 single base substitution C T missense_variant H220Y 658C>T BRCA-EU 1 154233457 154233457 single base substitution C T missense_variant H890Y 2668C>T BRCA-EU 1 154233457 154233457 single base substitution C T missense_variant H901Y 2701C>T BRCA-EU 1 154233457 154233457 single base substitution C T upstream_gene_variant BRCA-EU 1 154234029 154234029 single base substitution C T downstream_gene_variant BRCA-EU 1 154234029 154234029 single base substitution C T intron_variant BRCA-EU 1 154234029 154234029 single base substitution C T upstream_gene_variant BRCA-EU 1 154234630 154234630 single base substitution G A downstream_gene_variant BRCA-EU 1 154234630 154234630 single base substitution G A intron_variant BRCA-EU 1 154234630 154234630 single base substitution G A upstream_gene_variant BRCA-EU 1 154237953 154237953 single base substitution C A downstream_gene_variant BRCA-EU 1 154237953 154237953 single base substitution C A intron_variant BRCA-EU 1 154237953 154237953 single base substitution C A upstream_gene_variant BRCA-EU 1 154238440 154238440 single base substitution G C downstream_gene_variant BRCA-EU 1 154238440 154238440 single base substitution G C intron_variant BRCA-EU 1 154238440 154238440 single base substitution G C upstream_gene_variant BRCA-EU 1 154238598 154238598 single base substitution G C downstream_gene_variant BRCA-EU 1 154238598 154238598 single base substitution G C intron_variant BRCA-EU 1 154238598 154238598 single base substitution G C upstream_gene_variant BRCA-EU 1 154239130 154239130 single base substitution A T downstream_gene_variant BRCA-EU 1 154239130 154239130 single base substitution A T intron_variant BRCA-EU 1 154240406 154240406 single base substitution C G downstream_gene_variant BRCA-EU 1 154240406 154240406 single base substitution C G intron_variant BRCA-EU 1 154245021 154245021 single base substitution C T downstream_gene_variant BRCA-EU 1 154248191 154248191 single base substitution C T downstream_gene_variant BRCA-EU 1 154248477 154248477 single base substitution C G downstream_gene_variant BRCA-FR 1 154188103 154188103 single base substitution C G upstream_gene_variant BRCA-FR 1 154189974 154189974 single base substitution T G upstream_gene_variant BRCA-FR 1 154195896 154195896 single base substitution A C intron_variant BRCA-FR 1 154195896 154195896 single base substitution A C upstream_gene_variant BRCA-FR 1 154205384 154205384 single base substitution G C intron_variant BRCA-FR 1 154205393 154205393 single base substitution C G intron_variant BRCA-FR 1 154212283 154212283 single base substitution A G downstream_gene_variant BRCA-FR 1 154212283 154212283 single base substitution A G intron_variant BRCA-FR 1 154212283 154212283 single base substitution A G upstream_gene_variant BRCA-FR 1 154214045 154214045 single base substitution G C downstream_gene_variant BRCA-FR 1 154214045 154214045 single base substitution G C splice_region_variant BRCA-FR 1 154214045 154214045 single base substitution G C upstream_gene_variant BRCA-FR 1 154214566 154214566 single base substitution G C downstream_gene_variant BRCA-FR 1 154214566 154214566 single base substitution G C intron_variant BRCA-FR 1 154214566 154214566 single base substitution G C upstream_gene_variant BRCA-FR 1 154218972 154218972 single base substitution G A downstream_gene_variant BRCA-FR 1 154218972 154218972 single base substitution G A intron_variant BRCA-FR 1 154220904 154220904 single base substitution G C downstream_gene_variant BRCA-FR 1 154220904 154220904 single base substitution G C intron_variant BRCA-FR 1 154221993 154221993 single base substitution G C downstream_gene_variant BRCA-FR 1 154221993 154221993 single base substitution G C intron_variant BRCA-FR 1 154222178 154222178 single base substitution G A downstream_gene_variant BRCA-FR 1 154222178 154222178 single base substitution G A intron_variant BRCA-FR 1 154222178 154222178 single base substitution G A upstream_gene_variant BRCA-FR 1 154225889 154225889 single base substitution C T downstream_gene_variant BRCA-FR 1 154225889 154225889 single base substitution C T intron_variant BRCA-FR 1 154225889 154225889 single base substitution C T upstream_gene_variant BRCA-FR 1 154245021 154245021 single base substitution C T downstream_gene_variant BRCA-UK 1 154215332 154215332 single base substitution G C intron_variant BRCA-UK 1 154215332 154215332 single base substitution G C upstream_gene_variant BRCA-UK 1 154220448 154220448 single base substitution T A downstream_gene_variant BRCA-UK 1 154220448 154220448 single base substitution T A intron_variant BRCA-UK 1 154223790 154223790 single base substitution C G downstream_gene_variant BRCA-UK 1 154223790 154223790 single base substitution C G missense_variant S496C 1487C>G BRCA-UK 1 154223790 154223790 single base substitution C G missense_variant S507C 1520C>G BRCA-UK 1 154223790 154223790 single base substitution C G upstream_gene_variant BRCA-UK 1 154227358 154227358 single base substitution C G downstream_gene_variant BRCA-UK 1 154227358 154227358 single base substitution C G exon_variant BRCA-UK 1 154227358 154227358 single base substitution C G missense_variant S634C 1901C>G BRCA-UK 1 154227358 154227358 single base substitution C G missense_variant S645C 1934C>G BRCA-UK 1 154227358 154227358 single base substitution C G upstream_gene_variant BRCA-UK 1 154242906 154242906 single base substitution C G 3_prime_UTR_variant BRCA-UK 1 154242906 154242906 single base substitution C G downstream_gene_variant BRCA-UK 1 154242906 154242906 single base substitution C G intron_variant BRCA-US 1 154215409 154215409 deletion of <=200bp T - exon_variant BRCA-US 1 154215409 154215409 deletion of <=200bp T - intron_variant BRCA-US 1 154223668 154223668 single base substitution T C downstream_gene_variant BRCA-US 1 154223668 154223668 single base substitution T C synonymous_variant P455P 1365T>C BRCA-US 1 154223668 154223668 single base substitution T C synonymous_variant P466P 1398T>C BRCA-US 1 154223668 154223668 single base substitution T C upstream_gene_variant BRCA-US 1 154226531 154226531 single base substitution C G downstream_gene_variant BRCA-US 1 154226531 154226531 single base substitution C G missense_variant S607C 1820C>G BRCA-US 1 154226531 154226531 single base substitution C G missense_variant S618C 1853C>G BRCA-US 1 154226531 154226531 single base substitution C G upstream_gene_variant BRCA-US 1 154227320 154227320 single base substitution C T downstream_gene_variant BRCA-US 1 154227320 154227320 single base substitution C T exon_variant BRCA-US 1 154227320 154227320 single base substitution C T synonymous_variant F621F 1863C>T BRCA-US 1 154227320 154227320 single base substitution C T synonymous_variant F632F 1896C>T BRCA-US 1 154227320 154227320 single base substitution C T upstream_gene_variant BRCA-US 1 154227755 154227755 single base substitution G C downstream_gene_variant BRCA-US 1 154227755 154227755 single base substitution G C exon_variant BRCA-US 1 154227755 154227755 single base substitution G C missense_variant L679F 2037G>C BRCA-US 1 154227755 154227755 single base substitution G C missense_variant L690F 2070G>C BRCA-US 1 154227755 154227755 single base substitution G C missense_variant L9F 27G>C BRCA-US 1 154227755 154227755 single base substitution G C upstream_gene_variant BRCA-US 1 154227786 154227786 single base substitution A C downstream_gene_variant BRCA-US 1 154227786 154227786 single base substitution A C exon_variant BRCA-US 1 154227786 154227786 single base substitution A C missense_variant T20P 58A>C BRCA-US 1 154227786 154227786 single base substitution A C missense_variant T690P 2068A>C BRCA-US 1 154227786 154227786 single base substitution A C missense_variant T701P 2101A>C BRCA-US 1 154227786 154227786 single base substitution A C upstream_gene_variant BRCA-US 1 154229568 154229568 single base substitution C T exon_variant BRCA-US 1 154229568 154229568 single base substitution C T synonymous_variant L59L 177C>T BRCA-US 1 154229568 154229568 single base substitution C T synonymous_variant L729L 2187C>T BRCA-US 1 154229568 154229568 single base substitution C T synonymous_variant L740L 2220C>T BRCA-US 1 154229568 154229568 single base substitution C T synonymous_variant L7L 21C>T BRCA-US 1 154229568 154229568 single base substitution C T upstream_gene_variant BRCA-US 1 154229865 154229865 single base substitution G A exon_variant BRCA-US 1 154229865 154229865 single base substitution G A synonymous_variant L129L 387G>A BRCA-US 1 154229865 154229865 single base substitution G A synonymous_variant L77L 231G>A BRCA-US 1 154229865 154229865 single base substitution G A synonymous_variant L799L 2397G>A BRCA-US 1 154229865 154229865 single base substitution G A synonymous_variant L810L 2430G>A BRCA-US 1 154229865 154229865 single base substitution G A upstream_gene_variant BRCA-US 1 154231333 154231333 single base substitution G A downstream_gene_variant BRCA-US 1 154231333 154231333 single base substitution G A exon_variant BRCA-US 1 154231333 154231333 single base substitution G A intron_variant BRCA-US 1 154231333 154231333 single base substitution G A upstream_gene_variant BRCA-US 1 154232226 154232226 single base substitution G A downstream_gene_variant BRCA-US 1 154232226 154232226 single base substitution G A exon_variant BRCA-US 1 154232226 154232226 single base substitution G A intron_variant BRCA-US 1 154232226 154232226 single base substitution G A upstream_gene_variant BRCA-US 1 154232354 154232354 single base substitution C G downstream_gene_variant BRCA-US 1 154232354 154232354 single base substitution C G exon_variant BRCA-US 1 154232354 154232354 single base substitution C G intron_variant BRCA-US 1 154232354 154232354 single base substitution C G upstream_gene_variant BRCA-US 1 154241261 154241261 single base substitution C T exon_variant BRCA-US 1 154241261 154241261 single base substitution C T missense_variant S1000F 2999C>T BRCA-US 1 154241261 154241261 single base substitution C T missense_variant S1010F 3029C>T BRCA-US 1 154241261 154241261 single base substitution C T missense_variant S278F 833C>T BRCA-US 1 154241261 154241261 single base substitution C T missense_variant S330F 989C>T BRCA-US 1 154245925 154245925 insertion of <=200bp - C downstream_gene_variant BRCA-US 1 154248120 154248120 single base substitution G A downstream_gene_variant BTCA-JP 1 154192932 154192932 single base substitution G T intron_variant BTCA-JP 1 154192932 154192932 single base substitution G T upstream_gene_variant BTCA-JP 1 154199818 154199818 single base substitution G C missense_variant E51Q 151G>C BTCA-JP 1 154213998 154213998 single base substitution G A downstream_gene_variant BTCA-JP 1 154213998 154213998 single base substitution G A missense_variant R231K 692G>A BTCA-JP 1 154213998 154213998 single base substitution G A missense_variant R238K 713G>A BTCA-JP 1 154213998 154213998 single base substitution G A missense_variant R249K 746G>A BTCA-JP 1 154213998 154213998 single base substitution G A upstream_gene_variant BTCA-JP 1 154226444 154226444 single base substitution C T downstream_gene_variant BTCA-JP 1 154226444 154226444 single base substitution C T missense_variant S578L 1733C>T BTCA-JP 1 154226444 154226444 single base substitution C T missense_variant S589L 1766C>T BTCA-JP 1 154226444 154226444 single base substitution C T upstream_gene_variant BTCA-JP 1 154227884 154227884 single base substitution G A downstream_gene_variant BTCA-JP 1 154227884 154227884 single base substitution G A intron_variant BTCA-JP 1 154227884 154227884 single base substitution G A upstream_gene_variant BTCA-JP 1 154233973 154233973 single base substitution T C downstream_gene_variant BTCA-JP 1 154233973 154233973 single base substitution T C intron_variant BTCA-JP 1 154233973 154233973 single base substitution T C upstream_gene_variant BTCA-JP 1 154234233 154234233 single base substitution G A downstream_gene_variant BTCA-JP 1 154234233 154234233 single base substitution G A intron_variant BTCA-JP 1 154234233 154234233 single base substitution G A upstream_gene_variant BTCA-JP 1 154243246 154243246 single base substitution G T 3_prime_UTR_variant BTCA-JP 1 154243246 154243246 single base substitution G T downstream_gene_variant BTCA-JP 1 154243246 154243246 single base substitution G T intron_variant BTCA-JP 1 154246357 154246357 insertion of <=200bp - G downstream_gene_variant BTCA-JP 1 154246391 154246391 deletion of <=200bp C - downstream_gene_variant CESC-US 1 154201178 154201178 single base substitution C T missense_variant L86F 256C>T CESC-US 1 154221753 154221753 single base substitution A C downstream_gene_variant CESC-US 1 154221753 154221753 single base substitution A C exon_variant CESC-US 1 154221753 154221753 single base substitution A C missense_variant E351D 1053A>C CESC-US 1 154221753 154221753 single base substitution A C missense_variant E362D 1086A>C CESC-US 1 154223747 154223747 single base substitution C T downstream_gene_variant CESC-US 1 154223747 154223747 single base substitution C T stop_gained Q482* 1444C>T CESC-US 1 154223747 154223747 single base substitution C T stop_gained Q493* 1477C>T CESC-US 1 154223747 154223747 single base substitution C T upstream_gene_variant CESC-US 1 154223781 154223781 single base substitution C T downstream_gene_variant CESC-US 1 154223781 154223781 single base substitution C T missense_variant S493F 1478C>T CESC-US 1 154223781 154223781 single base substitution C T missense_variant S504F 1511C>T CESC-US 1 154223781 154223781 single base substitution C T upstream_gene_variant CESC-US 1 154226534 154226534 single base substitution C T downstream_gene_variant CESC-US 1 154226534 154226534 single base substitution C T missense_variant S608L 1823C>T CESC-US 1 154226534 154226534 single base substitution C T missense_variant S619L 1856C>T CESC-US 1 154226534 154226534 single base substitution C T upstream_gene_variant CESC-US 1 154241393 154241393 single base substitution C T exon_variant CESC-US 1 154241393 154241393 single base substitution C T missense_variant S1044F 3131C>T CESC-US 1 154241393 154241393 single base substitution C T missense_variant S1054F 3161C>T CESC-US 1 154241393 154241393 single base substitution C T missense_variant S322F 965C>T CESC-US 1 154241393 154241393 single base substitution C T missense_variant S374F 1121C>T CESC-US 1 154241466 154241466 single base substitution C T exon_variant CESC-US 1 154241466 154241466 single base substitution C T intron_variant CESC-US 1 154241746 154241746 single base substitution C G exon_variant CESC-US 1 154241746 154241746 single base substitution C G intron_variant CESC-US 1 154241823 154241823 single base substitution C A exon_variant CESC-US 1 154241823 154241823 single base substitution C A intron_variant CESC-US 1 154241829 154241829 single base substitution C T exon_variant CESC-US 1 154241829 154241829 single base substitution C T intron_variant CESC-US 1 154245822 154245822 single base substitution C T downstream_gene_variant CESC-US 1 154245995 154245995 single base substitution C T downstream_gene_variant CLLE-ES 1 154204929 154204929 single base substitution G A intron_variant CLLE-ES 1 154211639 154211639 single base substitution A G downstream_gene_variant CLLE-ES 1 154211639 154211639 single base substitution A G intron_variant CLLE-ES 1 154211639 154211639 single base substitution A G upstream_gene_variant CLLE-ES 1 154217275 154217275 single base substitution T C downstream_gene_variant CLLE-ES 1 154217275 154217275 single base substitution T C intron_variant CLLE-ES 1 154222066 154222066 single base substitution A C downstream_gene_variant CLLE-ES 1 154222066 154222066 single base substitution A C intron_variant CLLE-ES 1 154241978 154241978 single base substitution G A exon_variant CLLE-ES 1 154241978 154241978 single base substitution G A intron_variant COAD-US 1 154192409 154192409 single base substitution A C upstream_gene_variant COAD-US 1 154199808 154199808 single base substitution T C synonymous_variant D47D 141T>C COAD-US 1 154207205 154207205 single base substitution C T missense_variant R140W 418C>T COAD-US 1 154215749 154215749 single base substitution G A exon_variant COAD-US 1 154215749 154215749 single base substitution G A synonymous_variant A264A 792G>A COAD-US 1 154215749 154215749 single base substitution G A synonymous_variant A271A 813G>A COAD-US 1 154215749 154215749 single base substitution G A synonymous_variant A282A 846G>A COAD-US 1 154223658 154223658 single base substitution C T downstream_gene_variant COAD-US 1 154223658 154223658 single base substitution C T missense_variant P452L 1355C>T COAD-US 1 154223658 154223658 single base substitution C T missense_variant P463L 1388C>T COAD-US 1 154223658 154223658 single base substitution C T upstream_gene_variant COAD-US 1 154248164 154248164 single base substitution T C downstream_gene_variant COCA-CN 1 154192872 154192872 single base substitution G A intron_variant COCA-CN 1 154192872 154192872 single base substitution G A upstream_gene_variant COCA-CN 1 154197610 154197610 single base substitution C T missense_variant S4L 11C>T COCA-CN 1 154199945 154199945 single base substitution G T intron_variant COCA-CN 1 154208996 154208996 single base substitution A G downstream_gene_variant COCA-CN 1 154208996 154208996 single base substitution A G intron_variant COCA-CN 1 154209563 154209563 single base substitution C T downstream_gene_variant COCA-CN 1 154209563 154209563 single base substitution C T synonymous_variant S211S 633C>T COCA-CN 1 154209563 154209563 single base substitution C T synonymous_variant S218S 654C>T COCA-CN 1 154209563 154209563 single base substitution C T synonymous_variant S229S 687C>T COCA-CN 1 154214077 154214077 single base substitution C A downstream_gene_variant COCA-CN 1 154214077 154214077 single base substitution C A intron_variant COCA-CN 1 154214077 154214077 single base substitution C A upstream_gene_variant COCA-CN 1 154226477 154226477 single base substitution G A downstream_gene_variant COCA-CN 1 154226477 154226477 single base substitution G A missense_variant G589D 1766G>A COCA-CN 1 154226477 154226477 single base substitution G A missense_variant G600D 1799G>A COCA-CN 1 154226477 154226477 single base substitution G A upstream_gene_variant COCA-CN 1 154226512 154226512 single base substitution C T downstream_gene_variant COCA-CN 1 154226512 154226512 single base substitution C T missense_variant R601W 1801C>T COCA-CN 1 154226512 154226512 single base substitution C T missense_variant R612W 1834C>T COCA-CN 1 154226512 154226512 single base substitution C T upstream_gene_variant COCA-CN 1 154228307 154228307 single base substitution G T downstream_gene_variant COCA-CN 1 154228307 154228307 single base substitution G T intron_variant COCA-CN 1 154228307 154228307 single base substitution G T upstream_gene_variant COCA-CN 1 154243115 154243115 single base substitution C T 3_prime_UTR_variant COCA-CN 1 154243115 154243115 single base substitution C T downstream_gene_variant COCA-CN 1 154243115 154243115 single base substitution C T intron_variant COCA-CN 1 154245648 154245648 single base substitution G A downstream_gene_variant COCA-CN 1 154245935 154245935 single base substitution G A downstream_gene_variant ESAD-UK 1 154189778 154189778 single base substitution C G upstream_gene_variant ESAD-UK 1 154190056 154190056 single base substitution T A upstream_gene_variant ESAD-UK 1 154190749 154190749 single base substitution A G upstream_gene_variant ESAD-UK 1 154193041 154193041 single base substitution G A intron_variant ESAD-UK 1 154193041 154193041 single base substitution G A upstream_gene_variant ESAD-UK 1 154198018 154198018 single base substitution C G intron_variant ESAD-UK 1 154200244 154200244 single base substitution G A intron_variant ESAD-UK 1 154202483 154202483 single base substitution A G intron_variant ESAD-UK 1 154203308 154203308 single base substitution C T intron_variant ESAD-UK 1 154207206 154207206 single base substitution G A missense_variant R140Q 419G>A ESAD-UK 1 154208046 154208046 single base substitution C T downstream_gene_variant ESAD-UK 1 154208046 154208046 single base substitution C T intron_variant ESAD-UK 1 154208347 154208347 single base substitution G A downstream_gene_variant ESAD-UK 1 154208347 154208347 single base substitution G A intron_variant ESAD-UK 1 154208519 154208519 single base substitution T A downstream_gene_variant ESAD-UK 1 154208519 154208519 single base substitution T A intron_variant ESAD-UK 1 154209760 154209760 single base substitution C T downstream_gene_variant ESAD-UK 1 154209760 154209760 single base substitution C T intron_variant ESAD-UK 1 154211932 154211932 single base substitution T G downstream_gene_variant ESAD-UK 1 154211932 154211932 single base substitution T G intron_variant ESAD-UK 1 154211932 154211932 single base substitution T G upstream_gene_variant ESAD-UK 1 154219178 154219178 single base substitution C T downstream_gene_variant ESAD-UK 1 154219178 154219178 single base substitution C T intron_variant ESAD-UK 1 154220448 154220448 single base substitution T A downstream_gene_variant ESAD-UK 1 154220448 154220448 single base substitution T A intron_variant ESAD-UK 1 154220537 154220537 single base substitution G A downstream_gene_variant ESAD-UK 1 154220537 154220537 single base substitution G A intron_variant ESAD-UK 1 154223129 154223129 single base substitution A T downstream_gene_variant ESAD-UK 1 154223129 154223129 single base substitution A T intron_variant ESAD-UK 1 154223129 154223129 single base substitution A T upstream_gene_variant ESAD-UK 1 154224402 154224402 single base substitution C T downstream_gene_variant ESAD-UK 1 154224402 154224402 single base substitution C T intron_variant ESAD-UK 1 154224402 154224402 single base substitution C T upstream_gene_variant ESAD-UK 1 154224458 154224458 single base substitution T C downstream_gene_variant ESAD-UK 1 154224458 154224458 single base substitution T C intron_variant ESAD-UK 1 154224458 154224458 single base substitution T C upstream_gene_variant ESAD-UK 1 154225372 154225372 single base substitution G A downstream_gene_variant ESAD-UK 1 154225372 154225372 single base substitution G A intron_variant ESAD-UK 1 154225372 154225372 single base substitution G A upstream_gene_variant ESAD-UK 1 154226729 154226729 single base substitution T C downstream_gene_variant ESAD-UK 1 154226729 154226729 single base substitution T C intron_variant ESAD-UK 1 154226729 154226729 single base substitution T C upstream_gene_variant ESAD-UK 1 154227460 154227460 single base substitution A G downstream_gene_variant ESAD-UK 1 154227460 154227460 single base substitution A G intron_variant ESAD-UK 1 154227460 154227460 single base substitution A G upstream_gene_variant ESAD-UK 1 154229124 154229124 single base substitution G A intron_variant ESAD-UK 1 154229124 154229124 single base substitution G A upstream_gene_variant ESAD-UK 1 154229528 154229528 single base substitution C G intron_variant ESAD-UK 1 154229528 154229528 single base substitution C G upstream_gene_variant ESAD-UK 1 154231575 154231575 single base substitution G A downstream_gene_variant ESAD-UK 1 154231575 154231575 single base substitution G A intron_variant ESAD-UK 1 154231575 154231575 single base substitution G A upstream_gene_variant ESAD-UK 1 154240917 154240917 single base substitution T G downstream_gene_variant ESAD-UK 1 154240917 154240917 single base substitution T G intron_variant ESAD-UK 1 154241299 154241299 single base substitution C G exon_variant ESAD-UK 1 154241299 154241299 single base substitution C G missense_variant L1013V 3037C>G ESAD-UK 1 154241299 154241299 single base substitution C G missense_variant L1023V 3067C>G ESAD-UK 1 154241299 154241299 single base substitution C G missense_variant L291V 871C>G ESAD-UK 1 154241299 154241299 single base substitution C G missense_variant L343V 1027C>G ESAD-UK 1 154242305 154242305 single base substitution C T downstream_gene_variant ESAD-UK 1 154242305 154242305 single base substitution C T intron_variant ESAD-UK 1 154242684 154242684 single base substitution C T downstream_gene_variant ESAD-UK 1 154242684 154242684 single base substitution C T intron_variant ESAD-UK 1 154242684 154242684 single base substitution C T synonymous_variant S1059S 3177C>T ESAD-UK 1 154242684 154242684 single base substitution C T synonymous_variant S354S 1062C>T ESAD-UK 1 154242978 154242978 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 1 154242978 154242978 deletion of <=200bp T - downstream_gene_variant ESAD-UK 1 154242978 154242978 deletion of <=200bp T - intron_variant ESAD-UK 1 154244226 154244226 insertion of <=200bp - A downstream_gene_variant ESAD-UK 1 154245888 154245888 single base substitution T C downstream_gene_variant ESAD-UK 1 154248429 154248429 single base substitution C A downstream_gene_variant ESCA-CN 1 154207835 154207835 deletion of <=200bp T - downstream_gene_variant ESCA-CN 1 154207835 154207835 deletion of <=200bp T - intron_variant ESCA-CN 1 154215574 154215574 single base substitution G C exon_variant ESCA-CN 1 154215574 154215574 single base substitution G C intron_variant ESCA-CN 1 154224082 154224082 single base substitution C T downstream_gene_variant ESCA-CN 1 154224082 154224082 single base substitution C T synonymous_variant S539S 1617C>T ESCA-CN 1 154224082 154224082 single base substitution C T synonymous_variant S550S 1650C>T ESCA-CN 1 154224082 154224082 single base substitution C T upstream_gene_variant GBM-US 1 154207187 154207187 single base substitution C T missense_variant R134C 400C>T GBM-US 1 154242707 154242707 single base substitution C T downstream_gene_variant GBM-US 1 154242707 154242707 single base substitution C T intron_variant GBM-US 1 154242707 154242707 single base substitution C T missense_variant S1067F 3200C>T GBM-US 1 154242707 154242707 single base substitution C T missense_variant S362F 1085C>T KIRC-US 1 154218831 154218831 single base substitution A C downstream_gene_variant KIRC-US 1 154218831 154218831 single base substitution A C exon_variant KIRC-US 1 154218831 154218831 single base substitution A C missense_variant T332P 994A>C KIRC-US 1 154218831 154218831 single base substitution A C missense_variant T343P 1027A>C KIRC-US 1 154229659 154229659 single base substitution A C exon_variant KIRC-US 1 154229659 154229659 single base substitution A C missense_variant S38R 112A>C KIRC-US 1 154229659 154229659 single base substitution A C missense_variant S760R 2278A>C KIRC-US 1 154229659 154229659 single base substitution A C missense_variant S771R 2311A>C KIRC-US 1 154229659 154229659 single base substitution A C missense_variant S90R 268A>C KIRC-US 1 154229659 154229659 single base substitution A C upstream_gene_variant KIRC-US 1 154247938 154247938 single base substitution G C downstream_gene_variant KIRP-US 1 154245864 154245866 deletion of <=200bp GAA - downstream_gene_variant LAML-KR 1 154235657 154235657 single base substitution G A 3_prime_UTR_variant LAML-KR 1 154235657 154235657 single base substitution G A downstream_gene_variant LAML-KR 1 154235657 154235657 single base substitution G A exon_variant LAML-KR 1 154235657 154235657 single base substitution G A intron_variant LAML-KR 1 154235657 154235657 single base substitution G A upstream_gene_variant LAML-KR 1 154243115 154243115 single base substitution C T 3_prime_UTR_variant LAML-KR 1 154243115 154243115 single base substitution C T downstream_gene_variant LAML-KR 1 154243115 154243115 single base substitution C T intron_variant LICA-CN 1 154218706 154218706 single base substitution A T downstream_gene_variant LICA-CN 1 154218706 154218706 single base substitution A T exon_variant LICA-CN 1 154218706 154218706 single base substitution A T missense_variant K290M 869A>T LICA-CN 1 154218706 154218706 single base substitution A T missense_variant K301M 902A>T LICA-CN 1 154238994 154238994 single base substitution A T downstream_gene_variant LICA-CN 1 154238994 154238994 single base substitution A T exon_variant LICA-CN 1 154238994 154238994 single base substitution A T missense_variant S252C 754A>T LICA-CN 1 154238994 154238994 single base substitution A T missense_variant S304C 910A>T LICA-CN 1 154238994 154238994 single base substitution A T missense_variant S974C 2920A>T LICA-CN 1 154238994 154238994 single base substitution A T missense_variant S985C 2953A>T LICA-FR 1 154189746 154189746 single base substitution T C upstream_gene_variant LICA-FR 1 154199757 154199757 single base substitution G A splice_acceptor_variant LICA-FR 1 154199883 154199883 single base substitution A G intron_variant LICA-FR 1 154218698 154218698 single base substitution G C downstream_gene_variant LICA-FR 1 154218698 154218698 single base substitution G C exon_variant LICA-FR 1 154218698 154218698 single base substitution G C synonymous_variant L287L 861G>C LICA-FR 1 154218698 154218698 single base substitution G C synonymous_variant L298L 894G>C LICA-FR 1 154223486 154223486 single base substitution C A downstream_gene_variant LICA-FR 1 154223486 154223486 single base substitution C A intron_variant LICA-FR 1 154223486 154223486 single base substitution C A upstream_gene_variant LICA-FR 1 154229897 154229897 single base substitution T C exon_variant LICA-FR 1 154229897 154229897 single base substitution T C missense_variant L140S 419T>C LICA-FR 1 154229897 154229897 single base substitution T C missense_variant L810S 2429T>C LICA-FR 1 154229897 154229897 single base substitution T C missense_variant L821S 2462T>C LICA-FR 1 154229897 154229897 single base substitution T C missense_variant L88S 263T>C LICA-FR 1 154229897 154229897 single base substitution T C upstream_gene_variant LIHC-US 1 154221748 154221748 single base substitution G T downstream_gene_variant LIHC-US 1 154221748 154221748 single base substitution G T exon_variant LIHC-US 1 154221748 154221748 single base substitution G T missense_variant G350C 1048G>T LIHC-US 1 154221748 154221748 single base substitution G T missense_variant G361C 1081G>T LIHC-US 1 154223688 154223688 single base substitution C T downstream_gene_variant LIHC-US 1 154223688 154223688 single base substitution C T missense_variant S462L 1385C>T LIHC-US 1 154223688 154223688 single base substitution C T missense_variant S473L 1418C>T LIHC-US 1 154223688 154223688 single base substitution C T upstream_gene_variant LINC-JP 1 154190947 154190947 single base substitution T C upstream_gene_variant LINC-JP 1 154192474 154192474 single base substitution A T upstream_gene_variant LINC-JP 1 154192613 154192613 single base substitution T C upstream_gene_variant LINC-JP 1 154199722 154199722 single base substitution A G intron_variant LINC-JP 1 154200000 154200000 single base substitution T A intron_variant LINC-JP 1 154207042 154207042 single base substitution A G intron_variant LINC-JP 1 154209727 154209727 insertion of <=200bp - GA downstream_gene_variant LINC-JP 1 154209727 154209727 insertion of <=200bp - GA intron_variant LINC-JP 1 154211508 154211508 single base substitution C T downstream_gene_variant LINC-JP 1 154211508 154211508 single base substitution C T intron_variant LINC-JP 1 154211508 154211508 single base substitution C T upstream_gene_variant LINC-JP 1 154213876 154213876 single base substitution A T downstream_gene_variant LINC-JP 1 154213876 154213876 single base substitution A T intron_variant LINC-JP 1 154213876 154213876 single base substitution A T upstream_gene_variant LINC-JP 1 154227641 154227641 single base substitution T A downstream_gene_variant LINC-JP 1 154227641 154227641 single base substitution T A exon_variant LINC-JP 1 154227641 154227641 single base substitution T A synonymous_variant S641S 1923T>A LINC-JP 1 154227641 154227641 single base substitution T A synonymous_variant S652S 1956T>A LINC-JP 1 154227641 154227641 single base substitution T A upstream_gene_variant LINC-JP 1 154227834 154227834 single base substitution G A downstream_gene_variant LINC-JP 1 154227834 154227834 single base substitution G A intron_variant LINC-JP 1 154227834 154227834 single base substitution G A upstream_gene_variant LINC-JP 1 154228127 154228127 single base substitution A G downstream_gene_variant LINC-JP 1 154228127 154228127 single base substitution A G intron_variant LINC-JP 1 154228127 154228127 single base substitution A G upstream_gene_variant LINC-JP 1 154229960 154229960 single base substitution C A exon_variant LINC-JP 1 154229960 154229960 single base substitution C A intron_variant LINC-JP 1 154229960 154229960 single base substitution C A upstream_gene_variant LINC-JP 1 154230780 154230780 single base substitution A G downstream_gene_variant LINC-JP 1 154230780 154230780 single base substitution A G intron_variant LINC-JP 1 154230780 154230780 single base substitution A G upstream_gene_variant LINC-JP 1 154233307 154233307 single base substitution G A downstream_gene_variant LINC-JP 1 154233307 154233307 single base substitution G A intron_variant LINC-JP 1 154233307 154233307 single base substitution G A upstream_gene_variant LINC-JP 1 154240660 154240660 single base substitution C T downstream_gene_variant LINC-JP 1 154240660 154240660 single base substitution C T intron_variant LINC-JP 1 154241921 154241921 single base substitution C G exon_variant LINC-JP 1 154241921 154241921 single base substitution C G intron_variant LINC-JP 1 154245866 154245866 single base substitution A G downstream_gene_variant LINC-JP 1 154247655 154247655 single base substitution G A downstream_gene_variant LIRI-JP 1 154189575 154189575 single base substitution G A upstream_gene_variant LIRI-JP 1 154190636 154190636 single base substitution C T upstream_gene_variant LIRI-JP 1 154191476 154191476 single base substitution A C upstream_gene_variant LIRI-JP 1 154195276 154195276 single base substitution A G intron_variant LIRI-JP 1 154195276 154195276 single base substitution A G upstream_gene_variant LIRI-JP 1 154195406 154195406 single base substitution C G intron_variant LIRI-JP 1 154195406 154195406 single base substitution C G upstream_gene_variant LIRI-JP 1 154196347 154196347 single base substitution A G intron_variant LIRI-JP 1 154196347 154196347 single base substitution A G upstream_gene_variant LIRI-JP 1 154196982 154196982 single base substitution C A intron_variant LIRI-JP 1 154196982 154196982 single base substitution C A upstream_gene_variant LIRI-JP 1 154198894 154198894 single base substitution A C intron_variant LIRI-JP 1 154205073 154205073 single base substitution A G intron_variant LIRI-JP 1 154206835 154206835 single base substitution T C intron_variant LIRI-JP 1 154206987 154206987 single base substitution A G intron_variant LIRI-JP 1 154208561 154208561 single base substitution A G downstream_gene_variant LIRI-JP 1 154208561 154208561 single base substitution A G intron_variant LIRI-JP 1 154212092 154212092 single base substitution A G downstream_gene_variant LIRI-JP 1 154212092 154212092 single base substitution A G intron_variant LIRI-JP 1 154212092 154212092 single base substitution A G upstream_gene_variant LIRI-JP 1 154214940 154214940 single base substitution T C intron_variant LIRI-JP 1 154214940 154214940 single base substitution T C upstream_gene_variant LIRI-JP 1 154216374 154216374 single base substitution A G downstream_gene_variant LIRI-JP 1 154216374 154216374 single base substitution A G intron_variant LIRI-JP 1 154217330 154217330 single base substitution T C downstream_gene_variant LIRI-JP 1 154217330 154217330 single base substitution T C intron_variant LIRI-JP 1 154218848 154218848 single base substitution T C downstream_gene_variant LIRI-JP 1 154218848 154218848 single base substitution T C exon_variant LIRI-JP 1 154218848 154218848 single base substitution T C synonymous_variant S337S 1011T>C LIRI-JP 1 154218848 154218848 single base substitution T C synonymous_variant S348S 1044T>C LIRI-JP 1 154220081 154220081 single base substitution T A downstream_gene_variant LIRI-JP 1 154220081 154220081 single base substitution T A intron_variant LIRI-JP 1 154221408 154221408 single base substitution T A downstream_gene_variant LIRI-JP 1 154221408 154221408 single base substitution T A intron_variant LIRI-JP 1 154222133 154222133 single base substitution T A downstream_gene_variant LIRI-JP 1 154222133 154222133 single base substitution T A intron_variant LIRI-JP 1 154222133 154222133 single base substitution T A upstream_gene_variant LIRI-JP 1 154222805 154222805 single base substitution G A downstream_gene_variant LIRI-JP 1 154222805 154222805 single base substitution G A intron_variant LIRI-JP 1 154222805 154222805 single base substitution G A upstream_gene_variant LIRI-JP 1 154224204 154224204 single base substitution A C downstream_gene_variant LIRI-JP 1 154224204 154224204 single base substitution A C intron_variant LIRI-JP 1 154224204 154224204 single base substitution A C upstream_gene_variant LIRI-JP 1 154225434 154225434 single base substitution A G downstream_gene_variant LIRI-JP 1 154225434 154225434 single base substitution A G intron_variant LIRI-JP 1 154225434 154225434 single base substitution A G upstream_gene_variant LIRI-JP 1 154227727 154227727 single base substitution A G downstream_gene_variant LIRI-JP 1 154227727 154227727 single base substitution A G exon_variant LIRI-JP 1 154227727 154227727 single base substitution A G missense_variant N670S 2009A>G LIRI-JP 1 154227727 154227727 single base substitution A G missense_variant N681S 2042A>G LIRI-JP 1 154227727 154227727 single base substitution A G upstream_gene_variant LIRI-JP 1 154228160 154228160 single base substitution A G downstream_gene_variant LIRI-JP 1 154228160 154228160 single base substitution A G missense_variant T26A 76A>G LIRI-JP 1 154228160 154228160 single base substitution A G missense_variant T696A 2086A>G LIRI-JP 1 154228160 154228160 single base substitution A G missense_variant T707A 2119A>G LIRI-JP 1 154228160 154228160 single base substitution A G splice_region_variant LIRI-JP 1 154228160 154228160 single base substitution A G upstream_gene_variant LIRI-JP 1 154232518 154232518 single base substitution T C downstream_gene_variant LIRI-JP 1 154232518 154232518 single base substitution T C intron_variant LIRI-JP 1 154232518 154232518 single base substitution T C upstream_gene_variant LIRI-JP 1 154234009 154234009 single base substitution G A downstream_gene_variant LIRI-JP 1 154234009 154234009 single base substitution G A intron_variant LIRI-JP 1 154234009 154234009 single base substitution G A upstream_gene_variant LIRI-JP 1 154234707 154234707 single base substitution G T downstream_gene_variant LIRI-JP 1 154234707 154234707 single base substitution G T intron_variant LIRI-JP 1 154234707 154234707 single base substitution G T upstream_gene_variant LIRI-JP 1 154234959 154234959 single base substitution G A downstream_gene_variant LIRI-JP 1 154234959 154234959 single base substitution G A intron_variant LIRI-JP 1 154234959 154234959 single base substitution G A upstream_gene_variant LIRI-JP 1 154237217 154237217 single base substitution T C downstream_gene_variant LIRI-JP 1 154237217 154237217 single base substitution T C intron_variant LIRI-JP 1 154237217 154237217 single base substitution T C upstream_gene_variant LIRI-JP 1 154239173 154239173 single base substitution T G downstream_gene_variant LIRI-JP 1 154239173 154239173 single base substitution T G intron_variant LIRI-JP 1 154239909 154239909 single base substitution G A downstream_gene_variant LIRI-JP 1 154239909 154239909 single base substitution G A intron_variant LIRI-JP 1 154241388 154241388 single base substitution G A exon_variant LIRI-JP 1 154241388 154241388 single base substitution G A synonymous_variant P1042P 3126G>A LIRI-JP 1 154241388 154241388 single base substitution G A synonymous_variant P1052P 3156G>A LIRI-JP 1 154241388 154241388 single base substitution G A synonymous_variant P320P 960G>A LIRI-JP 1 154241388 154241388 single base substitution G A synonymous_variant P372P 1116G>A LIRI-JP 1 154241584 154241584 single base substitution C T exon_variant LIRI-JP 1 154241584 154241584 single base substitution C T intron_variant LIRI-JP 1 154244270 154244270 single base substitution C A downstream_gene_variant LIRI-JP 1 154244845 154244845 single base substitution C T downstream_gene_variant LUSC-KR 1 154201209 154201209 single base substitution G T splice_region_variant LUSC-KR 1 154206220 154206220 single base substitution A G intron_variant LUSC-KR 1 154207635 154207635 single base substitution G T intron_variant LUSC-KR 1 154209278 154209278 single base substitution A G downstream_gene_variant LUSC-KR 1 154209278 154209278 single base substitution A G intron_variant LUSC-KR 1 154209490 154209490 single base substitution T C downstream_gene_variant LUSC-KR 1 154209490 154209490 single base substitution T C intron_variant LUSC-KR 1 154209623 154209623 single base substitution A G downstream_gene_variant LUSC-KR 1 154209623 154209623 single base substitution A G intron_variant LUSC-KR 1 154209635 154209635 single base substitution T C downstream_gene_variant LUSC-KR 1 154209635 154209635 single base substitution T C intron_variant LUSC-KR 1 154217085 154217085 single base substitution C T downstream_gene_variant LUSC-KR 1 154217085 154217085 single base substitution C T intron_variant LUSC-KR 1 154223912 154223912 single base substitution G A downstream_gene_variant LUSC-KR 1 154223912 154223912 single base substitution G A intron_variant LUSC-KR 1 154223912 154223912 single base substitution G A upstream_gene_variant LUSC-KR 1 154232610 154232610 single base substitution A G downstream_gene_variant LUSC-KR 1 154232610 154232610 single base substitution A G intron_variant LUSC-KR 1 154232610 154232610 single base substitution A G upstream_gene_variant LUSC-KR 1 154237305 154237305 single base substitution C G downstream_gene_variant LUSC-KR 1 154237305 154237305 single base substitution C G intron_variant LUSC-KR 1 154237305 154237305 single base substitution C G upstream_gene_variant LUSC-KR 1 154240610 154240610 single base substitution C G downstream_gene_variant LUSC-KR 1 154240610 154240610 single base substitution C G intron_variant LUSC-KR 1 154243097 154243097 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 154243097 154243097 single base substitution G A downstream_gene_variant LUSC-KR 1 154243097 154243097 single base substitution G A intron_variant LUSC-KR 1 154243115 154243115 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 154243115 154243115 single base substitution C T downstream_gene_variant LUSC-KR 1 154243115 154243115 single base substitution C T intron_variant LUSC-KR 1 154245142 154245142 single base substitution T G downstream_gene_variant LUSC-US 1 154221798 154221798 single base substitution C T downstream_gene_variant LUSC-US 1 154221798 154221798 single base substitution C T exon_variant LUSC-US 1 154221798 154221798 single base substitution C T synonymous_variant F366F 1098C>T LUSC-US 1 154221798 154221798 single base substitution C T synonymous_variant F377F 1131C>T LUSC-US 1 154227363 154227363 single base substitution G C downstream_gene_variant LUSC-US 1 154227363 154227363 single base substitution G C exon_variant LUSC-US 1 154227363 154227363 single base substitution G C missense_variant E636Q 1906G>C LUSC-US 1 154227363 154227363 single base substitution G C missense_variant E647Q 1939G>C LUSC-US 1 154227363 154227363 single base substitution G C upstream_gene_variant LUSC-US 1 154227733 154227733 single base substitution A C downstream_gene_variant LUSC-US 1 154227733 154227733 single base substitution A C exon_variant LUSC-US 1 154227733 154227733 single base substitution A C missense_variant H2P 5A>C LUSC-US 1 154227733 154227733 single base substitution A C missense_variant H672P 2015A>C LUSC-US 1 154227733 154227733 single base substitution A C missense_variant H683P 2048A>C LUSC-US 1 154227733 154227733 single base substitution A C upstream_gene_variant LUSC-US 1 154227736 154227736 single base substitution C T downstream_gene_variant LUSC-US 1 154227736 154227736 single base substitution C T exon_variant LUSC-US 1 154227736 154227736 single base substitution C T missense_variant S3L 8C>T LUSC-US 1 154227736 154227736 single base substitution C T missense_variant S673L 2018C>T LUSC-US 1 154227736 154227736 single base substitution C T missense_variant S684L 2051C>T LUSC-US 1 154227736 154227736 single base substitution C T upstream_gene_variant LUSC-US 1 154227742 154227742 single base substitution C A downstream_gene_variant LUSC-US 1 154227742 154227742 single base substitution C A exon_variant LUSC-US 1 154227742 154227742 single base substitution C A missense_variant S5Y 14C>A LUSC-US 1 154227742 154227742 single base substitution C A missense_variant S675Y 2024C>A LUSC-US 1 154227742 154227742 single base substitution C A missense_variant S686Y 2057C>A LUSC-US 1 154227742 154227742 single base substitution C A upstream_gene_variant LUSC-US 1 154229595 154229595 single base substitution C T exon_variant LUSC-US 1 154229595 154229595 single base substitution C T synonymous_variant T16T 48C>T LUSC-US 1 154229595 154229595 single base substitution C T synonymous_variant T68T 204C>T LUSC-US 1 154229595 154229595 single base substitution C T synonymous_variant T738T 2214C>T LUSC-US 1 154229595 154229595 single base substitution C T synonymous_variant T749T 2247C>T LUSC-US 1 154229595 154229595 single base substitution C T upstream_gene_variant LUSC-US 1 154245822 154245822 single base substitution C T downstream_gene_variant LUSC-US 1 154245903 154245903 single base substitution C A downstream_gene_variant LUSC-US 1 154246318 154246318 single base substitution A G downstream_gene_variant MALY-DE 1 154194521 154194521 single base substitution T A intron_variant MALY-DE 1 154194521 154194521 single base substitution T A upstream_gene_variant MALY-DE 1 154194566 154194566 single base substitution T C intron_variant MALY-DE 1 154194566 154194566 single base substitution T C upstream_gene_variant MALY-DE 1 154205742 154205742 single base substitution C T intron_variant MALY-DE 1 154214159 154214159 single base substitution T G downstream_gene_variant MALY-DE 1 154214159 154214159 single base substitution T G intron_variant MALY-DE 1 154214159 154214159 single base substitution T G upstream_gene_variant MALY-DE 1 154228479 154228479 single base substitution T C downstream_gene_variant MALY-DE 1 154228479 154228479 single base substitution T C intron_variant MALY-DE 1 154228479 154228479 single base substitution T C upstream_gene_variant MALY-DE 1 154228528 154228528 single base substitution T C downstream_gene_variant MALY-DE 1 154228528 154228528 single base substitution T C intron_variant MALY-DE 1 154228528 154228528 single base substitution T C upstream_gene_variant MALY-DE 1 154239299 154239299 single base substitution A G downstream_gene_variant MALY-DE 1 154239299 154239299 single base substitution A G intron_variant MALY-DE 1 154244664 154244664 single base substitution T A downstream_gene_variant MELA-AU 1 154188151 154188151 single base substitution G A upstream_gene_variant MELA-AU 1 154190111 154190112 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 154190206 154190206 single base substitution A T upstream_gene_variant MELA-AU 1 154191144 154191144 single base substitution C T upstream_gene_variant MELA-AU 1 154191912 154191912 single base substitution G A upstream_gene_variant MELA-AU 1 154192252 154192252 single base substitution C T upstream_gene_variant MELA-AU 1 154193009 154193009 single base substitution G A intron_variant MELA-AU 1 154193009 154193009 single base substitution G A upstream_gene_variant MELA-AU 1 154193194 154193194 single base substitution G A intron_variant MELA-AU 1 154193194 154193194 single base substitution G A upstream_gene_variant MELA-AU 1 154193243 154193243 single base substitution G A intron_variant MELA-AU 1 154193243 154193243 single base substitution G A upstream_gene_variant MELA-AU 1 154193243 154193243 single base substitution G T intron_variant MELA-AU 1 154193243 154193243 single base substitution G T upstream_gene_variant MELA-AU 1 154193721 154193721 single base substitution C T intron_variant MELA-AU 1 154193721 154193721 single base substitution C T upstream_gene_variant MELA-AU 1 154195562 154195562 single base substitution T C intron_variant MELA-AU 1 154195562 154195562 single base substitution T C upstream_gene_variant MELA-AU 1 154196017 154196017 single base substitution G T intron_variant MELA-AU 1 154196017 154196017 single base substitution G T upstream_gene_variant MELA-AU 1 154196250 154196250 single base substitution C T intron_variant MELA-AU 1 154196250 154196250 single base substitution C T upstream_gene_variant MELA-AU 1 154196461 154196461 single base substitution C T intron_variant MELA-AU 1 154196461 154196461 single base substitution C T upstream_gene_variant MELA-AU 1 154196904 154196904 single base substitution G A intron_variant MELA-AU 1 154196904 154196904 single base substitution G A upstream_gene_variant MELA-AU 1 154197151 154197151 single base substitution C T intron_variant MELA-AU 1 154197151 154197151 single base substitution C T upstream_gene_variant MELA-AU 1 154197194 154197194 single base substitution C T intron_variant MELA-AU 1 154197194 154197194 single base substitution C T upstream_gene_variant MELA-AU 1 154197793 154197793 single base substitution C T intron_variant MELA-AU 1 154198239 154198239 single base substitution C T intron_variant MELA-AU 1 154198386 154198386 single base substitution T C intron_variant MELA-AU 1 154198653 154198653 single base substitution C T intron_variant MELA-AU 1 154198919 154198919 single base substitution G A intron_variant MELA-AU 1 154199369 154199369 single base substitution G A intron_variant MELA-AU 1 154199422 154199422 single base substitution C T intron_variant MELA-AU 1 154199795 154199795 single base substitution C T missense_variant S43L 128C>T MELA-AU 1 154200380 154200380 single base substitution C T intron_variant MELA-AU 1 154202099 154202099 single base substitution C T intron_variant MELA-AU 1 154202317 154202317 single base substitution C T intron_variant MELA-AU 1 154202567 154202567 single base substitution C T intron_variant MELA-AU 1 154204071 154204071 single base substitution C T intron_variant MELA-AU 1 154204131 154204131 single base substitution C T intron_variant MELA-AU 1 154204224 154204224 single base substitution C T intron_variant MELA-AU 1 154204853 154204853 single base substitution C T intron_variant MELA-AU 1 154205612 154205612 single base substitution C T intron_variant MELA-AU 1 154205997 154205997 single base substitution C T intron_variant MELA-AU 1 154206193 154206193 single base substitution T C intron_variant MELA-AU 1 154206849 154206849 single base substitution A G intron_variant MELA-AU 1 154207602 154207602 single base substitution C T intron_variant MELA-AU 1 154207939 154207939 single base substitution C T downstream_gene_variant MELA-AU 1 154207939 154207939 single base substitution C T intron_variant MELA-AU 1 154208682 154208682 single base substitution T C downstream_gene_variant MELA-AU 1 154208682 154208682 single base substitution T C intron_variant MELA-AU 1 154209128 154209128 single base substitution A G downstream_gene_variant MELA-AU 1 154209128 154209128 single base substitution A G intron_variant MELA-AU 1 154209213 154209213 single base substitution C T downstream_gene_variant MELA-AU 1 154209213 154209213 single base substitution C T intron_variant MELA-AU 1 154209799 154209799 single base substitution A G downstream_gene_variant MELA-AU 1 154209799 154209799 single base substitution A G intron_variant MELA-AU 1 154210018 154210018 single base substitution G A downstream_gene_variant MELA-AU 1 154210018 154210018 single base substitution G A intron_variant MELA-AU 1 154210928 154210928 single base substitution T A downstream_gene_variant MELA-AU 1 154210928 154210928 single base substitution T A intron_variant MELA-AU 1 154210928 154210928 single base substitution T A upstream_gene_variant MELA-AU 1 154211887 154211887 single base substitution A T downstream_gene_variant MELA-AU 1 154211887 154211887 single base substitution A T intron_variant MELA-AU 1 154211887 154211887 single base substitution A T upstream_gene_variant MELA-AU 1 154212459 154212459 single base substitution C T downstream_gene_variant MELA-AU 1 154212459 154212459 single base substitution C T intron_variant MELA-AU 1 154212459 154212459 single base substitution C T upstream_gene_variant MELA-AU 1 154212925 154212925 single base substitution C T downstream_gene_variant MELA-AU 1 154212925 154212925 single base substitution C T intron_variant MELA-AU 1 154212925 154212925 single base substitution C T upstream_gene_variant MELA-AU 1 154213504 154213504 single base substitution C T downstream_gene_variant MELA-AU 1 154213504 154213504 single base substitution C T intron_variant MELA-AU 1 154213504 154213504 single base substitution C T upstream_gene_variant MELA-AU 1 154213522 154213522 single base substitution C T downstream_gene_variant MELA-AU 1 154213522 154213522 single base substitution C T intron_variant MELA-AU 1 154213522 154213522 single base substitution C T upstream_gene_variant MELA-AU 1 154213547 154213547 single base substitution C T downstream_gene_variant MELA-AU 1 154213547 154213547 single base substitution C T intron_variant MELA-AU 1 154213547 154213547 single base substitution C T upstream_gene_variant MELA-AU 1 154215264 154215264 single base substitution T A intron_variant MELA-AU 1 154215264 154215264 single base substitution T A upstream_gene_variant MELA-AU 1 154215407 154215407 single base substitution T C exon_variant MELA-AU 1 154215407 154215407 single base substitution T C intron_variant MELA-AU 1 154215621 154215621 single base substitution C T exon_variant MELA-AU 1 154215621 154215621 single base substitution C T intron_variant MELA-AU 1 154215679 154215679 single base substitution C T exon_variant MELA-AU 1 154215679 154215679 single base substitution C T intron_variant MELA-AU 1 154216316 154216316 single base substitution C T downstream_gene_variant MELA-AU 1 154216316 154216316 single base substitution C T intron_variant MELA-AU 1 154216997 154216997 single base substitution C T downstream_gene_variant MELA-AU 1 154216997 154216997 single base substitution C T intron_variant MELA-AU 1 154217034 154217034 single base substitution G A downstream_gene_variant MELA-AU 1 154217034 154217034 single base substitution G A intron_variant MELA-AU 1 154218215 154218215 single base substitution C T downstream_gene_variant MELA-AU 1 154218215 154218215 single base substitution C T intron_variant MELA-AU 1 154218388 154218388 single base substitution C T downstream_gene_variant MELA-AU 1 154218388 154218388 single base substitution C T intron_variant MELA-AU 1 154218978 154218978 single base substitution T C downstream_gene_variant MELA-AU 1 154218978 154218978 single base substitution T C intron_variant MELA-AU 1 154220849 154220849 single base substitution C T downstream_gene_variant MELA-AU 1 154220849 154220849 single base substitution C T intron_variant MELA-AU 1 154220911 154220911 single base substitution C T downstream_gene_variant MELA-AU 1 154220911 154220911 single base substitution C T intron_variant MELA-AU 1 154223353 154223353 single base substitution C T downstream_gene_variant MELA-AU 1 154223353 154223353 single base substitution C T intron_variant MELA-AU 1 154223353 154223353 single base substitution C T upstream_gene_variant MELA-AU 1 154224410 154224410 single base substitution C T downstream_gene_variant MELA-AU 1 154224410 154224410 single base substitution C T intron_variant MELA-AU 1 154224410 154224410 single base substitution C T upstream_gene_variant MELA-AU 1 154224699 154224699 single base substitution C T downstream_gene_variant MELA-AU 1 154224699 154224699 single base substitution C T intron_variant MELA-AU 1 154224699 154224699 single base substitution C T upstream_gene_variant MELA-AU 1 154224918 154224919 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 154224918 154224919 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 154224918 154224919 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 154225324 154225324 single base substitution C T downstream_gene_variant MELA-AU 1 154225324 154225324 single base substitution C T intron_variant MELA-AU 1 154225324 154225324 single base substitution C T upstream_gene_variant MELA-AU 1 154225377 154225377 single base substitution C T downstream_gene_variant MELA-AU 1 154225377 154225377 single base substitution C T intron_variant MELA-AU 1 154225377 154225377 single base substitution C T upstream_gene_variant MELA-AU 1 154225449 154225449 single base substitution C T downstream_gene_variant MELA-AU 1 154225449 154225449 single base substitution C T intron_variant MELA-AU 1 154225449 154225449 single base substitution C T upstream_gene_variant MELA-AU 1 154226185 154226185 single base substitution C A downstream_gene_variant MELA-AU 1 154226185 154226185 single base substitution C A intron_variant MELA-AU 1 154226185 154226185 single base substitution C A upstream_gene_variant MELA-AU 1 154226364 154226364 single base substitution C T downstream_gene_variant MELA-AU 1 154226364 154226364 single base substitution C T intron_variant MELA-AU 1 154226364 154226364 single base substitution C T upstream_gene_variant MELA-AU 1 154227077 154227077 single base substitution C T downstream_gene_variant MELA-AU 1 154227077 154227077 single base substitution C T intron_variant MELA-AU 1 154227077 154227077 single base substitution C T upstream_gene_variant MELA-AU 1 154227677 154227677 single base substitution C T downstream_gene_variant MELA-AU 1 154227677 154227677 single base substitution C T exon_variant MELA-AU 1 154227677 154227677 single base substitution C T synonymous_variant I653I 1959C>T MELA-AU 1 154227677 154227677 single base substitution C T synonymous_variant I664I 1992C>T MELA-AU 1 154227677 154227677 single base substitution C T upstream_gene_variant MELA-AU 1 154227826 154227826 single base substitution T C downstream_gene_variant MELA-AU 1 154227826 154227826 single base substitution T C intron_variant MELA-AU 1 154227826 154227826 single base substitution T C upstream_gene_variant MELA-AU 1 154227873 154227873 single base substitution C T downstream_gene_variant MELA-AU 1 154227873 154227873 single base substitution C T intron_variant MELA-AU 1 154227873 154227873 single base substitution C T upstream_gene_variant MELA-AU 1 154227875 154227875 single base substitution C T downstream_gene_variant MELA-AU 1 154227875 154227875 single base substitution C T intron_variant MELA-AU 1 154227875 154227875 single base substitution C T upstream_gene_variant MELA-AU 1 154227986 154227986 single base substitution C T downstream_gene_variant MELA-AU 1 154227986 154227986 single base substitution C T intron_variant MELA-AU 1 154227986 154227986 single base substitution C T upstream_gene_variant MELA-AU 1 154228889 154228889 single base substitution G A intron_variant MELA-AU 1 154228889 154228889 single base substitution G A upstream_gene_variant MELA-AU 1 154229295 154229295 single base substitution G C intron_variant MELA-AU 1 154229295 154229295 single base substitution G C upstream_gene_variant MELA-AU 1 154229527 154229527 single base substitution C T intron_variant MELA-AU 1 154229527 154229527 single base substitution C T upstream_gene_variant MELA-AU 1 154229842 154229842 single base substitution C G exon_variant MELA-AU 1 154229842 154229842 single base substitution C G missense_variant P122A 364C>G MELA-AU 1 154229842 154229842 single base substitution C G missense_variant P70A 208C>G MELA-AU 1 154229842 154229842 single base substitution C G missense_variant P792A 2374C>G MELA-AU 1 154229842 154229842 single base substitution C G missense_variant P803A 2407C>G MELA-AU 1 154229842 154229842 single base substitution C G upstream_gene_variant MELA-AU 1 154230046 154230046 single base substitution C T exon_variant MELA-AU 1 154230046 154230046 single base substitution C T intron_variant MELA-AU 1 154230046 154230046 single base substitution C T upstream_gene_variant MELA-AU 1 154230644 154230644 single base substitution C T downstream_gene_variant MELA-AU 1 154230644 154230644 single base substitution C T intron_variant MELA-AU 1 154230644 154230644 single base substitution C T upstream_gene_variant MELA-AU 1 154230654 154230654 single base substitution C T downstream_gene_variant MELA-AU 1 154230654 154230654 single base substitution C T intron_variant MELA-AU 1 154230654 154230654 single base substitution C T upstream_gene_variant MELA-AU 1 154230834 154230834 single base substitution G T downstream_gene_variant MELA-AU 1 154230834 154230834 single base substitution G T intron_variant MELA-AU 1 154230834 154230834 single base substitution G T upstream_gene_variant MELA-AU 1 154231305 154231305 single base substitution C T downstream_gene_variant MELA-AU 1 154231305 154231305 single base substitution C T exon_variant MELA-AU 1 154231305 154231305 single base substitution C T intron_variant MELA-AU 1 154231305 154231305 single base substitution C T upstream_gene_variant MELA-AU 1 154231417 154231417 single base substitution C T downstream_gene_variant MELA-AU 1 154231417 154231417 single base substitution C T exon_variant MELA-AU 1 154231417 154231417 single base substitution C T intron_variant MELA-AU 1 154231417 154231417 single base substitution C T upstream_gene_variant MELA-AU 1 154232677 154232677 single base substitution C T downstream_gene_variant MELA-AU 1 154232677 154232677 single base substitution C T intron_variant MELA-AU 1 154232677 154232677 single base substitution C T upstream_gene_variant MELA-AU 1 154232984 154232984 single base substitution C T downstream_gene_variant MELA-AU 1 154232984 154232984 single base substitution C T intron_variant MELA-AU 1 154232984 154232984 single base substitution C T upstream_gene_variant MELA-AU 1 154233401 154233401 single base substitution C T downstream_gene_variant MELA-AU 1 154233401 154233401 single base substitution C T exon_variant MELA-AU 1 154233401 154233401 single base substitution C T missense_variant S149F 446C>T MELA-AU 1 154233401 154233401 single base substitution C T missense_variant S201F 602C>T MELA-AU 1 154233401 154233401 single base substitution C T missense_variant S871F 2612C>T MELA-AU 1 154233401 154233401 single base substitution C T missense_variant S882F 2645C>T MELA-AU 1 154233401 154233401 single base substitution C T upstream_gene_variant MELA-AU 1 154233487 154233487 single base substitution C T downstream_gene_variant MELA-AU 1 154233487 154233487 single base substitution C T exon_variant MELA-AU 1 154233487 154233487 single base substitution C T missense_variant P178S 532C>T MELA-AU 1 154233487 154233487 single base substitution C T missense_variant P230S 688C>T MELA-AU 1 154233487 154233487 single base substitution C T missense_variant P900S 2698C>T MELA-AU 1 154233487 154233487 single base substitution C T missense_variant P911S 2731C>T MELA-AU 1 154233487 154233487 single base substitution C T upstream_gene_variant MELA-AU 1 154233497 154233497 single base substitution C T downstream_gene_variant MELA-AU 1 154233497 154233497 single base substitution C T exon_variant MELA-AU 1 154233497 154233497 single base substitution C T missense_variant P181L 542C>T MELA-AU 1 154233497 154233497 single base substitution C T missense_variant P233L 698C>T MELA-AU 1 154233497 154233497 single base substitution C T missense_variant P903L 2708C>T MELA-AU 1 154233497 154233497 single base substitution C T missense_variant P914L 2741C>T MELA-AU 1 154233497 154233497 single base substitution C T upstream_gene_variant MELA-AU 1 154233609 154233609 single base substitution C T downstream_gene_variant MELA-AU 1 154233609 154233609 single base substitution C T intron_variant MELA-AU 1 154233609 154233609 single base substitution C T upstream_gene_variant MELA-AU 1 154233854 154233854 single base substitution C T downstream_gene_variant MELA-AU 1 154233854 154233854 single base substitution C T intron_variant MELA-AU 1 154233854 154233854 single base substitution C T upstream_gene_variant MELA-AU 1 154235112 154235112 single base substitution C T downstream_gene_variant MELA-AU 1 154235112 154235112 single base substitution C T intron_variant MELA-AU 1 154235112 154235112 single base substitution C T upstream_gene_variant MELA-AU 1 154235543 154235543 single base substitution C A downstream_gene_variant MELA-AU 1 154235543 154235543 single base substitution C A intron_variant MELA-AU 1 154235543 154235543 single base substitution C A upstream_gene_variant MELA-AU 1 154235924 154235924 single base substitution C T 3_prime_UTR_variant MELA-AU 1 154235924 154235924 single base substitution C T downstream_gene_variant MELA-AU 1 154235924 154235924 single base substitution C T intron_variant MELA-AU 1 154235924 154235924 single base substitution C T upstream_gene_variant MELA-AU 1 154236958 154236958 single base substitution C T downstream_gene_variant MELA-AU 1 154236958 154236958 single base substitution C T intron_variant MELA-AU 1 154236958 154236958 single base substitution C T upstream_gene_variant MELA-AU 1 154237075 154237075 single base substitution C T downstream_gene_variant MELA-AU 1 154237075 154237075 single base substitution C T intron_variant MELA-AU 1 154237075 154237075 single base substitution C T upstream_gene_variant MELA-AU 1 154237444 154237444 single base substitution G A downstream_gene_variant MELA-AU 1 154237444 154237444 single base substitution G A intron_variant MELA-AU 1 154237444 154237444 single base substitution G A upstream_gene_variant MELA-AU 1 154237602 154237602 single base substitution C G downstream_gene_variant MELA-AU 1 154237602 154237602 single base substitution C G intron_variant MELA-AU 1 154237602 154237602 single base substitution C G upstream_gene_variant MELA-AU 1 154237818 154237818 single base substitution C T downstream_gene_variant MELA-AU 1 154237818 154237818 single base substitution C T intron_variant MELA-AU 1 154237818 154237818 single base substitution C T upstream_gene_variant MELA-AU 1 154237893 154237899 deletion of <=200bp AAGTTTT - downstream_gene_variant MELA-AU 1 154237893 154237899 deletion of <=200bp AAGTTTT - intron_variant MELA-AU 1 154237893 154237899 deletion of <=200bp AAGTTTT - upstream_gene_variant MELA-AU 1 154237949 154237949 single base substitution C T downstream_gene_variant MELA-AU 1 154237949 154237949 single base substitution C T intron_variant MELA-AU 1 154237949 154237949 single base substitution C T upstream_gene_variant MELA-AU 1 154238327 154238327 single base substitution C T downstream_gene_variant MELA-AU 1 154238327 154238327 single base substitution C T intron_variant MELA-AU 1 154238327 154238327 single base substitution C T upstream_gene_variant MELA-AU 1 154238331 154238331 single base substitution C T downstream_gene_variant MELA-AU 1 154238331 154238331 single base substitution C T intron_variant MELA-AU 1 154238331 154238331 single base substitution C T upstream_gene_variant MELA-AU 1 154238642 154238643 multiple base substitution (>=2bp and <=200bp) AA GT downstream_gene_variant MELA-AU 1 154238642 154238643 multiple base substitution (>=2bp and <=200bp) AA GT intron_variant MELA-AU 1 154238642 154238643 multiple base substitution (>=2bp and <=200bp) AA GT upstream_gene_variant MELA-AU 1 154238798 154238799 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 154238798 154238799 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 154238798 154238799 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 154239203 154239203 single base substitution C T downstream_gene_variant MELA-AU 1 154239203 154239203 single base substitution C T intron_variant MELA-AU 1 154239498 154239498 single base substitution T A downstream_gene_variant MELA-AU 1 154239498 154239498 single base substitution T A intron_variant MELA-AU 1 154239628 154239628 single base substitution T A downstream_gene_variant MELA-AU 1 154239628 154239628 single base substitution T A intron_variant MELA-AU 1 154241112 154241113 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 1 154241216 154241216 single base substitution C T intron_variant MELA-AU 1 154241443 154241443 single base substitution C T exon_variant MELA-AU 1 154241443 154241443 single base substitution C T intron_variant MELA-AU 1 154241469 154241469 single base substitution C T exon_variant MELA-AU 1 154241469 154241469 single base substitution C T intron_variant MELA-AU 1 154241823 154241823 single base substitution C T exon_variant MELA-AU 1 154241823 154241823 single base substitution C T intron_variant MELA-AU 1 154242059 154242059 single base substitution C T exon_variant MELA-AU 1 154242059 154242059 single base substitution C T intron_variant MELA-AU 1 154242112 154242112 single base substitution C T exon_variant MELA-AU 1 154242112 154242112 single base substitution C T intron_variant MELA-AU 1 154242661 154242661 single base substitution C T downstream_gene_variant MELA-AU 1 154242661 154242661 single base substitution C T intron_variant MELA-AU 1 154242728 154242728 single base substitution C T downstream_gene_variant MELA-AU 1 154242728 154242728 single base substitution C T intron_variant MELA-AU 1 154242728 154242728 single base substitution C T missense_variant T1074I 3221C>T MELA-AU 1 154242728 154242728 single base substitution C T missense_variant T369I 1106C>T MELA-AU 1 154242757 154242757 single base substitution T G downstream_gene_variant MELA-AU 1 154242757 154242757 single base substitution T G intron_variant MELA-AU 1 154242757 154242757 single base substitution T G missense_variant W1084G 3250T>G MELA-AU 1 154242757 154242757 single base substitution T G missense_variant W379G 1135T>G MELA-AU 1 154242998 154242998 single base substitution C T 3_prime_UTR_variant MELA-AU 1 154242998 154242998 single base substitution C T downstream_gene_variant MELA-AU 1 154242998 154242998 single base substitution C T intron_variant MELA-AU 1 154243004 154243004 single base substitution C T 3_prime_UTR_variant MELA-AU 1 154243004 154243004 single base substitution C T downstream_gene_variant MELA-AU 1 154243004 154243004 single base substitution C T intron_variant MELA-AU 1 154243173 154243173 single base substitution C T 3_prime_UTR_variant MELA-AU 1 154243173 154243173 single base substitution C T downstream_gene_variant MELA-AU 1 154243173 154243173 single base substitution C T intron_variant MELA-AU 1 154243371 154243371 single base substitution C T downstream_gene_variant MELA-AU 1 154243371 154243371 single base substitution C T exon_variant MELA-AU 1 154243371 154243371 single base substitution C T synonymous_variant F1071F 3213C>T MELA-AU 1 154243371 154243371 single base substitution C T synonymous_variant F391F 1173C>T MELA-AU 1 154243445 154243445 single base substitution G A 3_prime_UTR_variant MELA-AU 1 154243445 154243445 single base substitution G A downstream_gene_variant MELA-AU 1 154243445 154243445 single base substitution G A exon_variant MELA-AU 1 154245025 154245026 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 154245033 154245033 single base substitution C T downstream_gene_variant MELA-AU 1 154245051 154245051 single base substitution C T downstream_gene_variant MELA-AU 1 154245217 154245217 single base substitution C T downstream_gene_variant MELA-AU 1 154245822 154245822 single base substitution C T downstream_gene_variant MELA-AU 1 154246458 154246458 single base substitution T G downstream_gene_variant MELA-AU 1 154246507 154246507 single base substitution G C downstream_gene_variant MELA-AU 1 154246842 154246842 single base substitution G A downstream_gene_variant MELA-AU 1 154247143 154247143 single base substitution C T downstream_gene_variant MELA-AU 1 154247542 154247542 single base substitution C T downstream_gene_variant MELA-AU 1 154247583 154247583 single base substitution C T downstream_gene_variant MELA-AU 1 154247844 154247844 single base substitution A T downstream_gene_variant MELA-AU 1 154248086 154248086 single base substitution C T downstream_gene_variant MELA-AU 1 154248608 154248608 single base substitution C T downstream_gene_variant MELA-AU 1 154248710 154248710 single base substitution C T downstream_gene_variant ORCA-IN 1 154192838 154192838 single base substitution C A intron_variant ORCA-IN 1 154192838 154192838 single base substitution C A upstream_gene_variant ORCA-IN 1 154198331 154198331 single base substitution C G intron_variant ORCA-IN 1 154224078 154224078 single base substitution C A downstream_gene_variant ORCA-IN 1 154224078 154224078 single base substitution C A missense_variant T538K 1613C>A ORCA-IN 1 154224078 154224078 single base substitution C A missense_variant T549K 1646C>A ORCA-IN 1 154224078 154224078 single base substitution C A upstream_gene_variant ORCA-IN 1 154233430 154233430 single base substitution C T downstream_gene_variant ORCA-IN 1 154233430 154233430 single base substitution C T exon_variant ORCA-IN 1 154233430 154233430 single base substitution C T stop_gained Q159* 475C>T ORCA-IN 1 154233430 154233430 single base substitution C T stop_gained Q211* 631C>T ORCA-IN 1 154233430 154233430 single base substitution C T stop_gained Q881* 2641C>T ORCA-IN 1 154233430 154233430 single base substitution C T stop_gained Q892* 2674C>T ORCA-IN 1 154233430 154233430 single base substitution C T upstream_gene_variant ORCA-IN 1 154233555 154233555 single base substitution C A downstream_gene_variant ORCA-IN 1 154233555 154233555 single base substitution C A exon_variant ORCA-IN 1 154233555 154233555 single base substitution C A missense_variant S200R 600C>A ORCA-IN 1 154233555 154233555 single base substitution C A missense_variant S252R 756C>A ORCA-IN 1 154233555 154233555 single base substitution C A missense_variant S922R 2766C>A ORCA-IN 1 154233555 154233555 single base substitution C A missense_variant S933R 2799C>A ORCA-IN 1 154233555 154233555 single base substitution C A upstream_gene_variant ORCA-IN 1 154246007 154246007 single base substitution C A downstream_gene_variant ORCA-IN 1 154248272 154248272 single base substitution G A downstream_gene_variant OV-AU 1 154188681 154188681 single base substitution G C upstream_gene_variant OV-AU 1 154192666 154192666 single base substitution G C 5_prime_UTR_variant OV-AU 1 154192666 154192666 single base substitution G C upstream_gene_variant OV-AU 1 154196824 154196824 single base substitution G C intron_variant OV-AU 1 154196824 154196824 single base substitution G C upstream_gene_variant OV-AU 1 154198180 154198180 single base substitution A T intron_variant OV-AU 1 154201647 154201647 single base substitution A G intron_variant OV-AU 1 154202641 154202641 single base substitution C G intron_variant OV-AU 1 154206695 154206695 single base substitution C A intron_variant OV-AU 1 154207676 154207676 single base substitution A T synonymous_variant R144R 432A>T OV-AU 1 154207676 154207676 single base substitution A T synonymous_variant R151R 453A>T OV-AU 1 154207676 154207676 single base substitution A T synonymous_variant R162R 486A>T OV-AU 1 154209849 154209849 single base substitution C T downstream_gene_variant OV-AU 1 154209849 154209849 single base substitution C T intron_variant OV-AU 1 154227183 154227183 single base substitution C G downstream_gene_variant OV-AU 1 154227183 154227183 single base substitution C G exon_variant OV-AU 1 154227183 154227183 single base substitution C G intron_variant OV-AU 1 154227183 154227183 single base substitution C G upstream_gene_variant OV-AU 1 154232646 154232646 single base substitution C G downstream_gene_variant OV-AU 1 154232646 154232646 single base substitution C G intron_variant OV-AU 1 154232646 154232646 single base substitution C G upstream_gene_variant OV-AU 1 154240422 154240422 single base substitution A G downstream_gene_variant OV-AU 1 154240422 154240422 single base substitution A G intron_variant OV-AU 1 154243467 154243467 single base substitution T C 3_prime_UTR_variant OV-AU 1 154243467 154243467 single base substitution T C downstream_gene_variant OV-AU 1 154243467 154243467 single base substitution T C exon_variant OV-AU 1 154246027 154246027 single base substitution G C downstream_gene_variant OV-US 1 154223752 154223752 single base substitution G C downstream_gene_variant OV-US 1 154223752 154223752 single base substitution G C missense_variant Q483H 1449G>C OV-US 1 154223752 154223752 single base substitution G C missense_variant Q494H 1482G>C OV-US 1 154223752 154223752 single base substitution G C upstream_gene_variant PACA-AU 1 154189691 154189691 single base substitution C G upstream_gene_variant PACA-AU 1 154197328 154197328 single base substitution A T intron_variant PACA-AU 1 154197328 154197328 single base substitution A T upstream_gene_variant PACA-AU 1 154199718 154199718 single base substitution C T intron_variant PACA-AU 1 154204034 154204034 single base substitution C T intron_variant PACA-AU 1 154204489 154204489 single base substitution G C intron_variant PACA-AU 1 154210169 154210171 deletion of <=200bp AAG - downstream_gene_variant PACA-AU 1 154210169 154210171 deletion of <=200bp AAG - intron_variant PACA-AU 1 154212985 154212985 single base substitution G T downstream_gene_variant PACA-AU 1 154212985 154212985 single base substitution G T intron_variant PACA-AU 1 154212985 154212985 single base substitution G T upstream_gene_variant PACA-AU 1 154219458 154219458 single base substitution G T downstream_gene_variant PACA-AU 1 154219458 154219458 single base substitution G T intron_variant PACA-AU 1 154221934 154221934 insertion of <=200bp - T downstream_gene_variant PACA-AU 1 154221934 154221934 insertion of <=200bp - T intron_variant PACA-AU 1 154223122 154223122 single base substitution G C downstream_gene_variant PACA-AU 1 154223122 154223122 single base substitution G C intron_variant PACA-AU 1 154223122 154223122 single base substitution G C upstream_gene_variant PACA-AU 1 154226725 154226725 single base substitution G A downstream_gene_variant PACA-AU 1 154226725 154226725 single base substitution G A intron_variant PACA-AU 1 154226725 154226725 single base substitution G A upstream_gene_variant PACA-AU 1 154226743 154226743 single base substitution G A downstream_gene_variant PACA-AU 1 154226743 154226743 single base substitution G A intron_variant PACA-AU 1 154226743 154226743 single base substitution G A upstream_gene_variant PACA-AU 1 154237509 154237509 single base substitution T G downstream_gene_variant PACA-AU 1 154237509 154237509 single base substitution T G intron_variant PACA-AU 1 154237509 154237509 single base substitution T G upstream_gene_variant PACA-AU 1 154245138 154245138 single base substitution G T downstream_gene_variant PACA-CA 1 154188504 154188504 single base substitution G A upstream_gene_variant PACA-CA 1 154188597 154188597 single base substitution G T upstream_gene_variant PACA-CA 1 154191662 154191662 single base substitution A C upstream_gene_variant PACA-CA 1 154192929 154192929 single base substitution C G intron_variant PACA-CA 1 154192929 154192929 single base substitution C G upstream_gene_variant PACA-CA 1 154194469 154194469 single base substitution T G intron_variant PACA-CA 1 154194469 154194469 single base substitution T G upstream_gene_variant PACA-CA 1 154198911 154198911 single base substitution G C intron_variant PACA-CA 1 154199032 154199032 single base substitution G A intron_variant PACA-CA 1 154200380 154200380 single base substitution C G intron_variant PACA-CA 1 154203286 154203286 single base substitution G C intron_variant PACA-CA 1 154204772 154204772 single base substitution C G intron_variant PACA-CA 1 154205434 154205434 single base substitution G A intron_variant PACA-CA 1 154206709 154206709 single base substitution C T intron_variant PACA-CA 1 154207487 154207487 single base substitution T G intron_variant PACA-CA 1 154209115 154209115 deletion of <=200bp T - downstream_gene_variant PACA-CA 1 154209115 154209115 deletion of <=200bp T - intron_variant PACA-CA 1 154210329 154210329 single base substitution G C downstream_gene_variant PACA-CA 1 154210329 154210329 single base substitution G C intron_variant PACA-CA 1 154210330 154210330 single base substitution G T downstream_gene_variant PACA-CA 1 154210330 154210330 single base substitution G T intron_variant PACA-CA 1 154212781 154212781 single base substitution G A downstream_gene_variant PACA-CA 1 154212781 154212781 single base substitution G A intron_variant PACA-CA 1 154212781 154212781 single base substitution G A upstream_gene_variant PACA-CA 1 154217512 154217512 single base substitution A T downstream_gene_variant PACA-CA 1 154217512 154217512 single base substitution A T intron_variant PACA-CA 1 154220285 154220285 single base substitution A G downstream_gene_variant PACA-CA 1 154220285 154220285 single base substitution A G intron_variant PACA-CA 1 154220505 154220505 single base substitution G A downstream_gene_variant PACA-CA 1 154220505 154220505 single base substitution G A intron_variant PACA-CA 1 154223373 154223373 single base substitution A G downstream_gene_variant PACA-CA 1 154223373 154223373 single base substitution A G intron_variant PACA-CA 1 154223373 154223373 single base substitution A G upstream_gene_variant PACA-CA 1 154223892 154223892 deletion of <=200bp T - downstream_gene_variant PACA-CA 1 154223892 154223892 deletion of <=200bp T - intron_variant PACA-CA 1 154223892 154223892 deletion of <=200bp T - upstream_gene_variant PACA-CA 1 154230095 154230095 single base substitution G T exon_variant PACA-CA 1 154230095 154230095 single base substitution G T intron_variant PACA-CA 1 154230095 154230095 single base substitution G T upstream_gene_variant PACA-CA 1 154233623 154233623 single base substitution A T downstream_gene_variant PACA-CA 1 154233623 154233623 single base substitution A T intron_variant PACA-CA 1 154233623 154233623 single base substitution A T upstream_gene_variant PACA-CA 1 154237240 154237240 single base substitution T A downstream_gene_variant PACA-CA 1 154237240 154237240 single base substitution T A intron_variant PACA-CA 1 154237240 154237240 single base substitution T A upstream_gene_variant PACA-CA 1 154238247 154238247 single base substitution G A downstream_gene_variant PACA-CA 1 154238247 154238247 single base substitution G A intron_variant PACA-CA 1 154238247 154238247 single base substitution G A upstream_gene_variant PACA-CA 1 154241776 154241778 deletion of <=200bp TGG - exon_variant PACA-CA 1 154241776 154241778 deletion of <=200bp TGG - intron_variant PACA-CA 1 154247812 154247812 single base substitution A G downstream_gene_variant PAEN-IT 1 154199549 154199549 single base substitution T G intron_variant PAEN-IT 1 154222772 154222772 single base substitution C G downstream_gene_variant PAEN-IT 1 154222772 154222772 single base substitution C G intron_variant PAEN-IT 1 154222772 154222772 single base substitution C G upstream_gene_variant PBCA-DE 1 154189220 154189220 single base substitution G T upstream_gene_variant PBCA-DE 1 154195943 154195943 single base substitution C T intron_variant PBCA-DE 1 154195943 154195943 single base substitution C T upstream_gene_variant PBCA-DE 1 154197553 154197553 single base substitution C A splice_region_variant PBCA-DE 1 154197553 154197553 single base substitution C A upstream_gene_variant PBCA-DE 1 154198869 154198869 single base substitution G A intron_variant PBCA-DE 1 154202688 154202688 single base substitution G T intron_variant PBCA-DE 1 154211164 154211164 single base substitution A G downstream_gene_variant PBCA-DE 1 154211164 154211164 single base substitution A G intron_variant PBCA-DE 1 154211164 154211164 single base substitution A G upstream_gene_variant PBCA-DE 1 154238383 154238383 single base substitution A G downstream_gene_variant PBCA-DE 1 154238383 154238383 single base substitution A G intron_variant PBCA-DE 1 154238383 154238383 single base substitution A G upstream_gene_variant PBCA-DE 1 154245776 154245776 single base substitution C T downstream_gene_variant PRAD-CA 1 154197242 154197242 single base substitution T G intron_variant PRAD-CA 1 154197242 154197242 single base substitution T G upstream_gene_variant PRAD-CA 1 154199367 154199367 single base substitution C G intron_variant PRAD-CA 1 154236317 154236317 single base substitution G C downstream_gene_variant PRAD-CA 1 154236317 154236317 single base substitution G C intron_variant PRAD-CA 1 154236317 154236317 single base substitution G C upstream_gene_variant PRAD-CA 1 154245441 154245441 single base substitution T C downstream_gene_variant PRAD-UK 1 154190760 154190760 single base substitution A T upstream_gene_variant PRAD-UK 1 154191101 154191101 single base substitution T G upstream_gene_variant PRAD-UK 1 154193110 154193110 single base substitution C A intron_variant PRAD-UK 1 154193110 154193110 single base substitution C A upstream_gene_variant PRAD-UK 1 154197724 154197724 single base substitution C T intron_variant PRAD-UK 1 154200933 154200933 single base substitution G T intron_variant PRAD-UK 1 154214378 154214378 single base substitution T G downstream_gene_variant PRAD-UK 1 154214378 154214378 single base substitution T G intron_variant PRAD-UK 1 154214378 154214378 single base substitution T G upstream_gene_variant PRAD-UK 1 154218063 154218063 single base substitution T G downstream_gene_variant PRAD-UK 1 154218063 154218063 single base substitution T G intron_variant PRAD-UK 1 154232742 154232742 single base substitution G A downstream_gene_variant PRAD-UK 1 154232742 154232742 single base substitution G A intron_variant PRAD-UK 1 154232742 154232742 single base substitution G A upstream_gene_variant PRAD-UK 1 154233892 154233892 single base substitution G C downstream_gene_variant PRAD-UK 1 154233892 154233892 single base substitution G C intron_variant PRAD-UK 1 154233892 154233892 single base substitution G C upstream_gene_variant READ-US 1 154218736 154218736 single base substitution C G downstream_gene_variant READ-US 1 154218736 154218736 single base substitution C G exon_variant READ-US 1 154218736 154218736 single base substitution C G missense_variant S300C 899C>G READ-US 1 154218736 154218736 single base substitution C G missense_variant S311C 932C>G RECA-EU 1 154194062 154194062 single base substitution T C intron_variant RECA-EU 1 154194062 154194062 single base substitution T C upstream_gene_variant RECA-EU 1 154198321 154198321 single base substitution G T intron_variant RECA-EU 1 154201803 154201803 single base substitution T A intron_variant RECA-EU 1 154207714 154207714 single base substitution G T missense_variant G157V 470G>T RECA-EU 1 154207714 154207714 single base substitution G T missense_variant G164V 491G>T RECA-EU 1 154207714 154207714 single base substitution G T missense_variant G175V 524G>T RECA-EU 1 154210791 154210791 single base substitution A C downstream_gene_variant RECA-EU 1 154210791 154210791 single base substitution A C intron_variant RECA-EU 1 154210791 154210791 single base substitution A C upstream_gene_variant RECA-EU 1 154247242 154247242 single base substitution G A downstream_gene_variant RECA-EU 1 154248835 154248835 single base substitution A G downstream_gene_variant SKCA-BR 1 154188816 154188819 deletion of <=200bp ATTT - upstream_gene_variant SKCA-BR 1 154189429 154189429 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 1 154193557 154193557 single base substitution A C intron_variant SKCA-BR 1 154193557 154193557 single base substitution A C upstream_gene_variant SKCA-BR 1 154195999 154196000 deletion of <=200bp AT - intron_variant SKCA-BR 1 154195999 154196000 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 1 154197610 154197610 single base substitution C T missense_variant S4L 11C>T SKCA-BR 1 154198019 154198019 single base substitution A T intron_variant SKCA-BR 1 154201985 154201985 single base substitution C T intron_variant SKCA-BR 1 154208152 154208152 single base substitution A T downstream_gene_variant SKCA-BR 1 154208152 154208152 single base substitution A T intron_variant SKCA-BR 1 154215553 154215553 single base substitution C T exon_variant SKCA-BR 1 154215553 154215553 single base substitution C T intron_variant SKCA-BR 1 154216315 154216315 single base substitution C T downstream_gene_variant SKCA-BR 1 154216315 154216315 single base substitution C T intron_variant SKCA-BR 1 154224438 154224438 single base substitution C T downstream_gene_variant SKCA-BR 1 154224438 154224438 single base substitution C T intron_variant SKCA-BR 1 154224438 154224438 single base substitution C T upstream_gene_variant SKCA-BR 1 154224464 154224464 single base substitution T G downstream_gene_variant SKCA-BR 1 154224464 154224464 single base substitution T G intron_variant SKCA-BR 1 154224464 154224464 single base substitution T G upstream_gene_variant SKCA-BR 1 154225760 154225760 single base substitution G A downstream_gene_variant SKCA-BR 1 154225760 154225760 single base substitution G A intron_variant SKCA-BR 1 154225760 154225760 single base substitution G A upstream_gene_variant SKCA-BR 1 154229230 154229230 single base substitution C T intron_variant SKCA-BR 1 154229230 154229230 single base substitution C T upstream_gene_variant SKCA-BR 1 154235805 154235805 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 154235805 154235805 single base substitution C T downstream_gene_variant SKCA-BR 1 154235805 154235805 single base substitution C T intron_variant SKCA-BR 1 154235805 154235805 single base substitution C T upstream_gene_variant SKCA-BR 1 154237430 154237430 single base substitution C T downstream_gene_variant SKCA-BR 1 154237430 154237430 single base substitution C T intron_variant SKCA-BR 1 154237430 154237430 single base substitution C T upstream_gene_variant SKCA-BR 1 154238213 154238213 single base substitution G A downstream_gene_variant SKCA-BR 1 154238213 154238213 single base substitution G A intron_variant SKCA-BR 1 154238213 154238213 single base substitution G A upstream_gene_variant SKCA-BR 1 154238808 154238808 single base substitution C T downstream_gene_variant SKCA-BR 1 154238808 154238808 single base substitution C T intron_variant SKCA-BR 1 154238808 154238808 single base substitution C T upstream_gene_variant SKCA-BR 1 154240201 154240201 single base substitution C T downstream_gene_variant SKCA-BR 1 154240201 154240201 single base substitution C T intron_variant SKCA-BR 1 154241743 154241743 single base substitution C T exon_variant SKCA-BR 1 154241743 154241743 single base substitution C T intron_variant SKCA-BR 1 154243099 154243099 single base substitution A G 3_prime_UTR_variant SKCA-BR 1 154243099 154243099 single base substitution A G downstream_gene_variant SKCA-BR 1 154243099 154243099 single base substitution A G intron_variant SKCA-BR 1 154243242 154243246 deletion of <=200bp TTTTG - 3_prime_UTR_variant SKCA-BR 1 154243242 154243246 deletion of <=200bp TTTTG - downstream_gene_variant SKCA-BR 1 154243242 154243246 deletion of <=200bp TTTTG - intron_variant SKCA-BR 1 154243246 154243246 single base substitution G T 3_prime_UTR_variant SKCA-BR 1 154243246 154243246 single base substitution G T downstream_gene_variant SKCA-BR 1 154243246 154243246 single base substitution G T intron_variant SKCA-BR 1 154243587 154243587 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 154243587 154243587 single base substitution C T downstream_gene_variant SKCA-BR 1 154243587 154243587 single base substitution C T exon_variant SKCA-BR 1 154245070 154245070 single base substitution C T downstream_gene_variant SKCA-BR 1 154248835 154248835 single base substitution A G downstream_gene_variant SKCA-BR 1 154248845 154248845 single base substitution G A downstream_gene_variant SKCM-US 1 154197657 154197657 single base substitution C T stop_gained Q20* 58C>T SKCM-US 1 154207104 154207104 single base substitution C T missense_variant S106L 317C>T SKCM-US 1 154207139 154207139 single base substitution G A missense_variant E118K 352G>A SKCM-US 1 154209586 154209586 single base substitution G A downstream_gene_variant SKCM-US 1 154209586 154209586 single base substitution G A missense_variant G219D 656G>A SKCM-US 1 154209586 154209586 single base substitution G A missense_variant G226D 677G>A SKCM-US 1 154209586 154209586 single base substitution G A missense_variant G237D 710G>A SKCM-US 1 154218811 154218811 single base substitution C T downstream_gene_variant SKCM-US 1 154218811 154218811 single base substitution C T exon_variant SKCM-US 1 154218811 154218811 single base substitution C T missense_variant S325L 974C>T SKCM-US 1 154218811 154218811 single base substitution C T missense_variant S336L 1007C>T SKCM-US 1 154223553 154223553 single base substitution C T downstream_gene_variant SKCM-US 1 154223553 154223553 single base substitution C T exon_variant SKCM-US 1 154223553 154223553 single base substitution C T missense_variant P417L 1250C>T SKCM-US 1 154223553 154223553 single base substitution C T missense_variant P428L 1283C>T SKCM-US 1 154223553 154223553 single base substitution C T upstream_gene_variant SKCM-US 1 154227725 154227725 single base substitution C A downstream_gene_variant SKCM-US 1 154227725 154227725 single base substitution C A exon_variant SKCM-US 1 154227725 154227725 single base substitution C A synonymous_variant T669T 2007C>A SKCM-US 1 154227725 154227725 single base substitution C A synonymous_variant T680T 2040C>A SKCM-US 1 154227725 154227725 single base substitution C A upstream_gene_variant SKCM-US 1 154229841 154229841 single base substitution C T exon_variant SKCM-US 1 154229841 154229841 single base substitution C T synonymous_variant L121L 363C>T SKCM-US 1 154229841 154229841 single base substitution C T synonymous_variant L69L 207C>T SKCM-US 1 154229841 154229841 single base substitution C T synonymous_variant L791L 2373C>T SKCM-US 1 154229841 154229841 single base substitution C T synonymous_variant L802L 2406C>T SKCM-US 1 154229841 154229841 single base substitution C T upstream_gene_variant SKCM-US 1 154229842 154229842 single base substitution C T exon_variant SKCM-US 1 154229842 154229842 single base substitution C T missense_variant P122S 364C>T SKCM-US 1 154229842 154229842 single base substitution C T missense_variant P70S 208C>T SKCM-US 1 154229842 154229842 single base substitution C T missense_variant P792S 2374C>T SKCM-US 1 154229842 154229842 single base substitution C T missense_variant P803S 2407C>T SKCM-US 1 154229842 154229842 single base substitution C T upstream_gene_variant SKCM-US 1 154229846 154229846 single base substitution C T exon_variant SKCM-US 1 154229846 154229846 single base substitution C T missense_variant P123L 368C>T SKCM-US 1 154229846 154229846 single base substitution C T missense_variant P71L 212C>T SKCM-US 1 154229846 154229846 single base substitution C T missense_variant P793L 2378C>T SKCM-US 1 154229846 154229846 single base substitution C T missense_variant P804L 2411C>T SKCM-US 1 154229846 154229846 single base substitution C T upstream_gene_variant SKCM-US 1 154229858 154229858 single base substitution C T exon_variant SKCM-US 1 154229858 154229858 single base substitution C T missense_variant P127L 380C>T SKCM-US 1 154229858 154229858 single base substitution C T missense_variant P75L 224C>T SKCM-US 1 154229858 154229858 single base substitution C T missense_variant P797L 2390C>T SKCM-US 1 154229858 154229858 single base substitution C T missense_variant P808L 2423C>T SKCM-US 1 154229858 154229858 single base substitution C T upstream_gene_variant SKCM-US 1 154241257 154241257 single base substitution C T exon_variant SKCM-US 1 154241257 154241257 single base substitution C T missense_variant H1009Y 3025C>T SKCM-US 1 154241257 154241257 single base substitution C T missense_variant H277Y 829C>T SKCM-US 1 154241257 154241257 single base substitution C T missense_variant H329Y 985C>T SKCM-US 1 154241257 154241257 single base substitution C T missense_variant H999Y 2995C>T SKCM-US 1 154245239 154245239 single base substitution C T downstream_gene_variant SKCM-US 1 154245822 154245822 single base substitution C T downstream_gene_variant SKCM-US 1 154245824 154245824 single base substitution C T downstream_gene_variant SKCM-US 1 154245864 154245866 deletion of <=200bp GAA - downstream_gene_variant SKCM-US 1 154247884 154247884 single base substitution C T downstream_gene_variant STAD-US 1 154199796 154199796 single base substitution G A synonymous_variant S43S 129G>A STAD-US 1 154201200 154201200 single base substitution C T missense_variant T93M 278C>T STAD-US 1 154223741 154223741 single base substitution C T downstream_gene_variant STAD-US 1 154223741 154223741 single base substitution C T missense_variant P480S 1438C>T STAD-US 1 154223741 154223741 single base substitution C T missense_variant P491S 1471C>T STAD-US 1 154223741 154223741 single base substitution C T upstream_gene_variant STAD-US 1 154223782 154223782 single base substitution C A downstream_gene_variant STAD-US 1 154223782 154223782 single base substitution C A synonymous_variant S493S 1479C>A STAD-US 1 154223782 154223782 single base substitution C A synonymous_variant S504S 1512C>A STAD-US 1 154223782 154223782 single base substitution C A upstream_gene_variant STAD-US 1 154227697 154227697 single base substitution T C downstream_gene_variant STAD-US 1 154227697 154227697 single base substitution T C exon_variant STAD-US 1 154227697 154227697 single base substitution T C missense_variant V660A 1979T>C STAD-US 1 154227697 154227697 single base substitution T C missense_variant V671A 2012T>C STAD-US 1 154227697 154227697 single base substitution T C upstream_gene_variant STAD-US 1 154228216 154228216 single base substitution G A downstream_gene_variant STAD-US 1 154228216 154228216 single base substitution G A exon_variant STAD-US 1 154228216 154228216 single base substitution G A synonymous_variant S44S 132G>A STAD-US 1 154228216 154228216 single base substitution G A synonymous_variant S714S 2142G>A STAD-US 1 154228216 154228216 single base substitution G A synonymous_variant S725S 2175G>A STAD-US 1 154228216 154228216 single base substitution G A upstream_gene_variant STAD-US 1 154229634 154229634 single base substitution T A exon_variant STAD-US 1 154229634 154229634 single base substitution T A missense_variant S29R 87T>A STAD-US 1 154229634 154229634 single base substitution T A missense_variant S751R 2253T>A STAD-US 1 154229634 154229634 single base substitution T A missense_variant S762R 2286T>A STAD-US 1 154229634 154229634 single base substitution T A missense_variant S81R 243T>A STAD-US 1 154229634 154229634 single base substitution T A upstream_gene_variant STAD-US 1 154233469 154233469 single base substitution C T downstream_gene_variant STAD-US 1 154233469 154233469 single base substitution C T exon_variant STAD-US 1 154233469 154233469 single base substitution C T stop_gained Q172* 514C>T STAD-US 1 154233469 154233469 single base substitution C T stop_gained Q224* 670C>T STAD-US 1 154233469 154233469 single base substitution C T stop_gained Q894* 2680C>T STAD-US 1 154233469 154233469 single base substitution C T stop_gained Q905* 2713C>T STAD-US 1 154233469 154233469 single base substitution C T upstream_gene_variant STAD-US 1 154239006 154239006 single base substitution G A downstream_gene_variant STAD-US 1 154239006 154239006 single base substitution G A exon_variant STAD-US 1 154239006 154239006 single base substitution G A missense_variant V256M 766G>A STAD-US 1 154239006 154239006 single base substitution G A missense_variant V308M 922G>A STAD-US 1 154239006 154239006 single base substitution G A missense_variant V978M 2932G>A STAD-US 1 154239006 154239006 single base substitution G A missense_variant V989M 2965G>A STAD-US 1 154246038 154246038 single base substitution G A downstream_gene_variant STAD-US 1 154246292 154246292 single base substitution G A downstream_gene_variant STAD-US 1 154246391 154246391 deletion of <=200bp C - downstream_gene_variant STAD-US 1 154247469 154247469 single base substitution A G downstream_gene_variant THCA-SA 1 154223747 154223747 single base substitution C T downstream_gene_variant THCA-SA 1 154223747 154223747 single base substitution C T stop_gained Q482* 1444C>T THCA-SA 1 154223747 154223747 single base substitution C T stop_gained Q493* 1477C>T THCA-SA 1 154223747 154223747 single base substitution C T upstream_gene_variant THCA-SA 1 154243097 154243097 single base substitution G A 3_prime_UTR_variant THCA-SA 1 154243097 154243097 single base substitution G A downstream_gene_variant THCA-SA 1 154243097 154243097 single base substitution G A intron_variant THCA-SA 1 154243115 154243115 single base substitution C T 3_prime_UTR_variant THCA-SA 1 154243115 154243115 single base substitution C T downstream_gene_variant THCA-SA 1 154243115 154243115 single base substitution C T intron_variant THCA-SA 1 154245142 154245142 single base substitution T G downstream_gene_variant UCEC-US 1 154192334 154192334 single base substitution G T upstream_gene_variant UCEC-US 1 154192369 154192369 single base substitution G A upstream_gene_variant UCEC-US 1 154201193 154201193 single base substitution C T missense_variant P91S 271C>T UCEC-US 1 154201200 154201200 single base substitution C T missense_variant T93M 278C>T UCEC-US 1 154218817 154218817 single base substitution C A downstream_gene_variant UCEC-US 1 154218817 154218817 single base substitution C A exon_variant UCEC-US 1 154218817 154218817 single base substitution C A missense_variant P327H 980C>A UCEC-US 1 154218817 154218817 single base substitution C A missense_variant P338H 1013C>A UCEC-US 1 154221772 154221772 single base substitution A G downstream_gene_variant UCEC-US 1 154221772 154221772 single base substitution A G exon_variant UCEC-US 1 154221772 154221772 single base substitution A G missense_variant T358A 1072A>G UCEC-US 1 154221772 154221772 single base substitution A G missense_variant T369A 1105A>G UCEC-US 1 154224128 154224128 single base substitution A G downstream_gene_variant UCEC-US 1 154224128 154224128 single base substitution A G missense_variant S555G 1663A>G UCEC-US 1 154224128 154224128 single base substitution A G missense_variant S566G 1696A>G UCEC-US 1 154224128 154224128 single base substitution A G upstream_gene_variant UCEC-US 1 154228162 154228162 single base substitution G A downstream_gene_variant UCEC-US 1 154228162 154228162 single base substitution G A exon_variant UCEC-US 1 154228162 154228162 single base substitution G A synonymous_variant T26T 78G>A UCEC-US 1 154228162 154228162 single base substitution G A synonymous_variant T696T 2088G>A UCEC-US 1 154228162 154228162 single base substitution G A synonymous_variant T707T 2121G>A UCEC-US 1 154228162 154228162 single base substitution G A upstream_gene_variant UCEC-US 1 154228171 154228171 single base substitution G A downstream_gene_variant UCEC-US 1 154228171 154228171 single base substitution G A exon_variant UCEC-US 1 154228171 154228171 single base substitution G A synonymous_variant T29T 87G>A UCEC-US 1 154228171 154228171 single base substitution G A synonymous_variant T699T 2097G>A UCEC-US 1 154228171 154228171 single base substitution G A synonymous_variant T710T 2130G>A UCEC-US 1 154228171 154228171 single base substitution G A upstream_gene_variant UCEC-US 1 154229706 154229706 single base substitution G A exon_variant UCEC-US 1 154229706 154229706 single base substitution G A synonymous_variant S105S 315G>A UCEC-US 1 154229706 154229706 single base substitution G A synonymous_variant S53S 159G>A UCEC-US 1 154229706 154229706 single base substitution G A synonymous_variant S775S 2325G>A UCEC-US 1 154229706 154229706 single base substitution G A synonymous_variant S786S 2358G>A UCEC-US 1 154229706 154229706 single base substitution G A upstream_gene_variant UCEC-US 1 154229711 154229711 single base substitution G A exon_variant UCEC-US 1 154229711 154229711 single base substitution G A missense_variant R107Q 320G>A UCEC-US 1 154229711 154229711 single base substitution G A missense_variant R55Q 164G>A UCEC-US 1 154229711 154229711 single base substitution G A missense_variant R777Q 2330G>A UCEC-US 1 154229711 154229711 single base substitution G A missense_variant R788Q 2363G>A UCEC-US 1 154229711 154229711 single base substitution G A upstream_gene_variant UCEC-US 1 154233486 154233486 single base substitution C T downstream_gene_variant UCEC-US 1 154233486 154233486 single base substitution C T exon_variant UCEC-US 1 154233486 154233486 single base substitution C T synonymous_variant N177N 531C>T UCEC-US 1 154233486 154233486 single base substitution C T synonymous_variant N229N 687C>T UCEC-US 1 154233486 154233486 single base substitution C T synonymous_variant N899N 2697C>T UCEC-US 1 154233486 154233486 single base substitution C T synonymous_variant N910N 2730C>T UCEC-US 1 154233486 154233486 single base substitution C T upstream_gene_variant UCEC-US 1 154235616 154235616 single base substitution G A downstream_gene_variant UCEC-US 1 154235616 154235616 single base substitution G A exon_variant UCEC-US 1 154235616 154235616 single base substitution G A intron_variant UCEC-US 1 154235616 154235616 single base substitution G A synonymous_variant T980T 2940G>A UCEC-US 1 154235616 154235616 single base substitution G A upstream_gene_variant UCEC-US 1 154238998 154238998 single base substitution A G downstream_gene_variant UCEC-US 1 154238998 154238998 single base substitution A G exon_variant UCEC-US 1 154238998 154238998 single base substitution A G missense_variant N253S 758A>G UCEC-US 1 154238998 154238998 single base substitution A G missense_variant N305S 914A>G UCEC-US 1 154238998 154238998 single base substitution A G missense_variant N975S 2924A>G UCEC-US 1 154238998 154238998 single base substitution A G missense_variant N986S 2957A>G UCEC-US 1 154241364 154241364 single base substitution C T exon_variant UCEC-US 1 154241364 154241364 single base substitution C T synonymous_variant H1034H 3102C>T UCEC-US 1 154241364 154241364 single base substitution C T synonymous_variant H1044H 3132C>T UCEC-US 1 154241364 154241364 single base substitution C T synonymous_variant H312H 936C>T UCEC-US 1 154241364 154241364 single base substitution C T synonymous_variant H364H 1092C>T UCEC-US 1 154242839 154242839 single base substitution G T 3_prime_UTR_variant UCEC-US 1 154242839 154242839 single base substitution G T downstream_gene_variant UCEC-US 1 154242839 154242839 single base substitution G T intron_variant UCEC-US 1 154242853 154242853 single base substitution G T 3_prime_UTR_variant UCEC-US 1 154242853 154242853 single base substitution G T downstream_gene_variant UCEC-US 1 154242853 154242853 single base substitution G T intron_variant UCEC-US 1 154245948 154245948 single base substitution G A downstream_gene_variant UCEC-US 1 154246047 154246047 single base substitution G A downstream_gene_variant UCEC-US 1 154246344 154246344 single base substitution G A downstream_gene_variant UCEC-US 1 154247442 154247442 single base substitution C A downstream_gene_variant UCEC-US 1 154247935 154247935 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHC1028T COSM4790826 c.2429T>C p.L810S Substitution - Missense 1:154257421-154257421 + PD13763a COSM5773497 c.381C>T p.D127D Substitution - coding silent 1:154234692-154234692 + SA226 COSM214503 c.311_314delGAGT p.G104fs*170 Deletion - Frameshift 1:154234622-154234625 + 1N28-VS-1T28 COSM4973712 c.3142C>T p.H1048Y Substitution - Missense 1:154268928-154268928 + BD49T COSM5497572 c.1733C>T p.S578L Substitution - Missense 1:154253968-154253968 + TCGA-BR-7959-01 COSM4022766 c.2680C>T p.Q894* Substitution - Nonsense 1:154260993-154260993 + 418 COSM4431800 c.2373C>G p.L791L Substitution - coding silent 1:154257365-154257365 + Pat_46_B COSM5843775 c.1196C>T p.P399L Substitution - Missense 1:154249420-154249420 + BD173T COSM5505694 c.713G>A p.R238K Substitution - Missense 1:154241522-154241522 + KM12 COSM2208694 c.698G>A p.G233E Substitution - Missense 1:154237131-154237131 + C0045T COSM2208829 c.2673T>C p.H891H Substitution - coding silent 1:154260986-154260986 + TCGA-EE-A2GI-06 COSM3474622 c.677G>A p.G226D Substitution - Missense 1:154237110-154237110 + PD11336a COSM5767008 c.1075G>A p.G359S Substitution - Missense 1:154249299-154249299 + TCGA-IR-A3LI-01 COSM4846203 c.1823C>T p.S608L Substitution - Missense 1:154254058-154254058 + TCGA-FS-A1Z3-06 COSM3474639 c.2374C>T p.P792S Substitution - Missense 1:154257366-154257366 + HCC106T COSM1600870 c.1923T>A p.S641S Substitution - coding silent 1:154255165-154255165 + T1154 COSM4738624 c.113T>G p.L38R Substitution - Missense 1:154227304-154227304 + KM12 COSM1667994 c.1073C>T p.T358I Substitution - Missense 1:154249297-154249297 + TCGA-66-2771-01 COSM675891 c.2018C>T p.S673L Substitution - Missense 1:154255260-154255260 + TCGA-A8-A0A6-01 COSM3802004 c.2068A>C p.T690P Substitution - Missense 1:154255310-154255310 + TCGA-DK-A2I6-01 COSM896538 c.1663A>G p.S555G Substitution - Missense 1:154251652-154251652 + YUPAT COSM1688659 c.1964C>T p.P655L Substitution - Missense 1:154255206-154255206 + CHC1534T COSM4955083 c.861G>C p.L287L Substitution - coding silent 1:154246222-154246222 + Pat_59_B COSM5843782 c.2752C>T p.P918S Substitution - Missense 1:154261065-154261065 + PTC-14C COSM4142747 c.1587T>A p.L529L Substitution - coding silent 1:154251576-154251576 + TCGA-CG-5721-01 COSM4022746 c.129G>A p.S43S Substitution - coding silent 1:154227320-154227320 + Pat_24_A COSM5843778 c.1589delC p.S530fs*85 Deletion - Frameshift 1:154251578-154251578 + LS180 COSM2208870 c.3251delG p.A1086fs*>2 Deletion - Frameshift 1:154270282-154270282 + D28 COSM5546064 c.3106C>T p.L1036L Substitution - coding silent 1:154268892-154268892 + TCGA-AG-A002-01 COSM264513 c.2982G>A p.E994E Substitution - coding silent 1:154268768-154268768 + TCGA-BR-8680-01 COSM4022758 c.2142G>A p.S714S Substitution - coding silent 1:154255740-154255740 + DLD1 COSM4622117 c.1924G>A p.A642T Substitution - Missense 1:154255166-154255166 + PT36 COSM5914808 c.2761C>T p.P921S Substitution - Missense 1:154261074-154261074 + TCGA-23-1123-01 COSM76928 c.1449G>C p.Q483H Substitution - Missense 1:154251276-154251276 + PA285 COSM1162842 c.1064G>A p.G355D Substitution - Missense 1:154249288-154249288 + TCGA-76-4928-01 COSM3399777 c.3200C>T p.S1067F Substitution - Missense 1:154270231-154270231 + TCGA-D3-A3MV-06 COSM3474635 c.2373C>T p.L791L Substitution - coding silent 1:154257365-154257365 + TCGA-UB-A7MB-01 COSM4931620 c.1385C>T p.S462L Substitution - Missense 1:154251212-154251212 + TCGA-A2-A04V-01 COSM423977 c.1863C>T p.F621F Substitution - coding silent 1:154254844-154254844 + TCGA-A8-A09Z-01 COSM3802008 c.2397G>A p.L799L Substitution - coding silent 1:154257389-154257389 + SNUH_G26_S1 COSM3996955 c.591-10T>C p.? Unknown 1:154237014-154237014 + Gp2D COSM2208739 c.1701G>A p.Q567Q Substitution - coding silent 1:154253936-154253936 + HCT-15 COSM1667998 c.1988C>A p.A663D Substitution - Missense 1:154255230-154255230 + 61 COSM4738627 c.812C>T p.A271V Substitution - Missense 1:154243272-154243272 + HCC141T COSM5811318 c.869A>T p.K290M Substitution - Missense 1:154246230-154246230 + TCGA-D1-A167-01 COSM896544 c.2097G>A p.T699T Substitution - coding silent 1:154255695-154255695 + S02242 COSM5676978 c.826A>G p.I276V Substitution - Missense 1:154243286-154243286 + YUWAND COSM1688653 c.128C>T p.S43L Substitution - Missense 1:154227319-154227319 + TCGA-18-3410-01 COSM675885 c.2214C>T p.T738T Substitution - coding silent 1:154257119-154257119 + 575 COSM3724059 c.1546C>T p.L516L Substitution - coding silent 1:154251535-154251535 + MO_1012 COSM5550538 c.2342C>T p.A781V Substitution - Missense 1:154257247-154257247 + TCGA-D8-A1J9-01 COSM1472688 c.2999C>T p.S1000F Substitution - Missense 1:154268785-154268785 + LP6007514-DNA_A01 COSM5951490 c.3037C>G p.L1013V Substitution - Missense 1:154268823-154268823 + ESCC_1 COSM5622379 c.3177C>T p.S1059S Substitution - coding silent 1:154270208-154270208 + T1154 COSM4738638 c.3046delG p.G1017fs*20 Deletion - Frameshift 1:154268832-154268832 + TCGA-AP-A0LM-01 COSM896553 c.2924A>G p.N975S Substitution - Missense 1:154266522-154266522 + CSCC-20-T COSM4465042 c.1364C>T p.P455L Substitution - Missense 1:154251191-154251191 + TCGA-G3-A25Z-01 COSM4922093 c.1048G>T p.G350C Substitution - Missense 1:154249272-154249272 + BK0048 COSM4187873 c.642T>A p.Y214* Substitution - Nonsense 1:154237075-154237075 + YUPROST COSM1688665 c.2975C>T p.S992F Substitution - Missense 1:154268761-154268761 + TCGA-66-2771-01 COSM675893 c.2015A>C p.H672P Substitution - Missense 1:154255257-154255257 + TCGA-AA-3672-01 COSM267707 c.1237G>A p.A413T Substitution - Missense 1:154251064-154251064 + IGROV-1 COSM1668001 c.2242C>A p.P748T Substitution - Missense 1:154257147-154257147 + TCGA-AF-3913-01 COSM256107 c.1645C>A p.L549M Substitution - Missense 1:154251634-154251634 + TCGA-18-3419-01 COSM675897 c.1098C>T p.F366F Substitution - coding silent 1:154249322-154249322 + TCGA-AC-A23H-01 COSM3802000 c.2037G>C p.L679F Substitution - Missense 1:154255279-154255279 + I2L-P19Tb-Tumor-Biopsy COSM5353070 c.3216C>A p.P1072P Substitution - coding silent 1:154270247-154270247 + CHC1534T COSM4955083 c.861G>C p.L287L Substitution - coding silent 1:154246222-154246222 + TCGA-AA-3713-01 COSM1334394 c.141T>C p.D47D Substitution - coding silent 1:154227332-154227332 + TCGA-A6-6781-01 COSM1334399 c.1355C>T p.P452L Substitution - Missense 1:154251182-154251182 + LS174T COSM2208870 c.3251delG p.A1086fs*>2 Deletion - Frameshift 1:154270282-154270282 + TCGA-HI-7170-01 COSM3671421 c.1617C>A p.S539R Substitution - Missense 1:154251606-154251606 + DN111AA COSM5794258 c.756+4G>C p.? Unknown 1:154241569-154241569 + T3090 COSM4738630 c.2700G>A p.P900P Substitution - coding silent 1:154261013-154261013 + GC_299T1-GC_299N COSM4772460 c.1017G>A p.V339V Substitution - coding silent 1:154249241-154249241 + TCGA-24-1845-01 COSM1319930 c.2122A>G p.T708A Substitution - Missense 1:154255720-154255720 + CHC892T COSM4797111 c.91-1G>A p.? Unknown 1:154227281-154227281 + TCGA-GD-A3OP-01 COSM1295137 c.2841G>A p.V947V Substitution - coding silent 1:154261636-154261636 + PD4203a COSM165363 c.1901C>G p.S634C Substitution - Missense 1:154254882-154254882 + B96-Tumor COSM1747780 c.472G>A p.D158N Substitution - Missense 1:154235219-154235219 + TCGA-BR-4292-01 COSM4022762 c.2253T>A p.S751R Substitution - Missense 1:154257158-154257158 + PD9604a COSM5802134 c.1361_1363delCTC p.P455delP Deletion - In frame 1:154251188-154251190 + YURED COSM1688662 c.2362C>T p.P788S Substitution - Missense 1:154257354-154257354 + 413 COSM4431123 c.35G>T p.G12V Substitution - Missense 1:154225158-154225158 + AOCS-088-3-8 COSM3979849 c.453A>T p.R151R Substitution - coding silent 1:154235200-154235200 + PD13165a COSM5794258 c.756+4G>C p.? Unknown 1:154241569-154241569 + T2269 COSM4738634 c.2701G>A p.A901T Substitution - Missense 1:154261014-154261014 + OSCC-GB_00620111 COSM4881417 c.2766C>A p.S922R Substitution - Missense 1:154261079-154261079 + Pat_41_B COSM5843772 c.479C>T p.T160I Substitution - Missense 1:154235226-154235226 + CSCC-16-T COSM4546545 c.401G>A p.R134H Substitution - Missense 1:154234712-154234712 + 105T COSM1725136 c.226A>C p.N76H Substitution - Missense 1:154228672-154228672 + PTC-14C COSM4142755 c.1589C>A p.S530Y Substitution - Missense 1:154251578-154251578 + TCGA-AX-A05Z-01 COSM896532 c.271C>T p.P91S Substitution - Missense 1:154228717-154228717 + HCC106 COSM1600870 c.1923T>A p.S641S Substitution - coding silent 1:154255165-154255165 + 9583_PT COSM5754211 c.2391G>A p.P797P Substitution - coding silent 1:154257383-154257383 + TCGA-AC-A23H-01 COSM3801996 c.1820C>G p.S607C Substitution - Missense 1:154254055-154254055 + SA089 COSM213537 c.418C>T p.R140W Substitution - Missense 1:154234729-154234729 + TCGA-EJ-7125-01 COSM3671418 c.864G>T p.L288L Substitution - coding silent 1:154246225-154246225 + sysucc-783T COSM5483588 c.1801C>T p.R601W Substitution - Missense 1:154254036-154254036 + TCGA-JW-A5VJ-01 COSM4818410 c.1478C>T p.S493F Substitution - Missense 1:154251305-154251305 + HCC003T COSM5819521 c.2920A>T p.S974C Substitution - Missense 1:154266518-154266518 + DLD1 COSM1667998 c.1988C>A p.A663D Substitution - Missense 1:154255230-154255230 + T3202 COSM4738627 c.812C>T p.A271V Substitution - Missense 1:154243272-154243272 + T3099 COSM2208860 c.3126G>A p.P1042P Substitution - coding silent 1:154268912-154268912 + ESCC_10 COSM5623727 c.2162C>G p.T721R Substitution - Missense 1:154257067-154257067 + 6948_CLM COSM5754207 c.1625C>T p.S542L Substitution - Missense 1:154251614-154251614 + SA224 COSM212521 c.1846C>G p.Q616E Substitution - Missense 1:154254081-154254081 + TCGA-A2-A0CT-01 COSM423979 c.2187C>T p.L729L Substitution - coding silent 1:154257092-154257092 + RK337_C01 COSM4943486 c.1011T>C p.S337S Substitution - coding silent 1:154246372-154246372 + NB-1977 COSM1288796 c.3088G>T p.A1030S Substitution - Missense 1:154268874-154268874 + 6948_PT COSM5754207 c.1625C>T p.S542L Substitution - Missense 1:154251614-154251614 + TCGA-BT-A20J-01 COSM414023 c.1311G>C p.E437D Substitution - Missense 1:154251138-154251138 + LUAD-F00282 COSM366972 c.2975C>G p.S992C Substitution - Missense 1:154268761-154268761 + TCGA-60-2698-01 COSM675895 c.1906G>C p.E636Q Substitution - Missense 1:154254887-154254887 + TCGA-D3-A51T-06 COSM3474619 c.352G>A p.E118K Substitution - Missense 1:154234663-154234663 + TCGA-BS-A0UV-01 COSM896548 c.2330G>A p.R777Q Substitution - Missense 1:154257235-154257235 + TCGA-CM-6162-01 COSM213537 c.418C>T p.R140W Substitution - Missense 1:154234729-154234729 + OSCC-GB_00310111 COSM3711145 c.1613C>A p.T538K Substitution - Missense 1:154251602-154251602 + I2L-P19Tb-Tumor-Organoid COSM5353070 c.3216C>A p.P1072P Substitution - coding silent 1:154270247-154270247 + TCGA-D3-A3MR-06 COSM3474616 c.58C>T p.Q20* Substitution - Nonsense 1:154225181-154225181 + TCGA-D3-A5GS-06 COSM3474635 c.2373C>T p.L791L Substitution - coding silent 1:154257365-154257365 + TCGA-BT-A0YX-01 COSM414021 c.2612C>A p.S871Y Substitution - Missense 1:154260925-154260925 + TCGA-B5-A11E-01 COSM896546 c.2325G>A p.S775S Substitution - coding silent 1:154257230-154257230 + 12924 COSM5616643 c.1242G>T p.V414V Substitution - coding silent 1:154251069-154251069 + YUAVEY COSM1688657 c.1319C>T p.P440L Substitution - Missense 1:154251146-154251146 + TCGA-76-4927-01 COSM2208677 c.400C>T p.R134C Substitution - Missense 1:154234711-154234711 + TCGA-AA-3693-01 COSM268356 c.1768C>T p.P590S Substitution - Missense 1:154254003-154254003 + TCGA-BR-4361-01 COSM4022754 c.1979T>C p.V660A Substitution - Missense 1:154255221-154255221 + WA3 COSM242152 c.2753C>T p.P918L Substitution - Missense 1:154261066-154261066 + C0089T COSM4140844 c.491G>T p.G164V Substitution - Missense 1:154235238-154235238 + TCGA-BP-5185-01 COSM463046 c.2278A>C p.S760R Substitution - Missense 1:154257183-154257183 + HCC2998 COSM2208703 c.957G>A p.S319S Substitution - coding silent 1:154246318-154246318 + TCGA-FW-A3R5-06 COSM3862853 c.317C>T p.S106L Substitution - Missense 1:154234628-154234628 + ESO-H01 COSM1269611 c.786T>C p.S262S Substitution - coding silent 1:154243246-154243246 + TCGA-RA-A741-01 COSM4818818 c.1444C>T p.Q482* Substitution - Nonsense 1:154251271-154251271 + TCGA-EE-A3AG-06 COSM3474643 c.2378C>T p.P793L Substitution - Missense 1:154257370-154257370 + LUAD-B01811 COSM334188 c.2765G>T p.S922I Substitution - Missense 1:154261078-154261078 + CHC1028T COSM4790826 c.2429T>C p.L810S Substitution - Missense 1:154257421-154257421 + S00841 COSM318252 c.1720G>T p.G574C Substitution - Missense 1:154253955-154253955 + PTC-14C COSM4142751 c.1588T>G p.S530A Substitution - Missense 1:154251577-154251577 + TCGA-CG-4477-01 COSM1667996 c.1438C>T p.P480S Substitution - Missense 1:154251265-154251265 + KM12 COSM1667996 c.1438C>T p.P480S Substitution - Missense 1:154251265-154251265 + TCGA-HU-A4GQ-01 COSM4022751 c.1479C>A p.S493S Substitution - coding silent 1:154251306-154251306 + S02120 COSM5673357 c.1628G>A p.S543N Substitution - Missense 1:154251617-154251617 + PTC_72 COSM4818818 c.1444C>T p.Q482* Substitution - Nonsense 1:154251271-154251271 + TCGA-ER-A194-01 COSM3474647 c.2390C>T p.P797L Substitution - Missense 1:154257382-154257382 + BD175T COSM5507714 c.151G>C p.E51Q Substitution - Missense 1:154227342-154227342 + 2334191 COSM324154 c.379G>A p.D127N Substitution - Missense 1:154234690-154234690 + TCGA-18-3407-01 COSM675889 c.2024C>A p.S675Y Substitution - Missense 1:154255266-154255266 + CHC892T COSM4797111 c.91-1G>A p.? Unknown 1:154227281-154227281 + YUOMEGA COSM5377773 c.3205C>T p.P1069S Substitution - Missense 1:154270236-154270236 + TCGA-IR-A3L7-01 COSM4849415 c.256C>T p.L86F Substitution - Missense 1:154228702-154228702 + SA226 COSM212629 c.346T>G p.S116A Substitution - Missense 1:154234657-154234657 + KM12 COSM1667996 c.1438C>T p.P480S Substitution - Missense 1:154251265-154251265 + 587242 COSM1231528 c.50C>T p.P17L Substitution - Missense 1:154225173-154225173 + TCGA-DA-A1HY-06 COSM3474628 c.1250C>T p.P417L Substitution - Missense 1:154251077-154251077 + TCGA-AP-A051-01 COSM896555 c.3102C>T p.H1034H Substitution - coding silent 1:154268888-154268888 + KM12 COSM1667994 c.1073C>T p.T358I Substitution - Missense 1:154249297-154249297 + RK223_C01 COSM4943629 c.2009A>G p.N670S Substitution - Missense 1:154255251-154255251 + TCGA-D5-6540-01 COSM1334397 c.813G>A p.A271A Substitution - coding silent 1:154243273-154243273 + ESCC_BICR_001T COSM5440567 c.1617C>T p.S539S Substitution - coding silent 1:154251606-154251606 + LP6005334-DNA_D03 COSM5622379 c.3177C>T p.S1059S Substitution - coding silent 1:154270208-154270208 + YUZINO COSM1688655 c.451C>T p.R151* Substitution - Nonsense 1:154235198-154235198 + HCT8 COSM1667998 c.1988C>A p.A663D Substitution - Missense 1:154255230-154255230 + TCGA-BP-4804-01 COSM3360352 c.994A>C p.T332P Substitution - Missense 1:154246355-154246355 + TCGA-EE-A2MR-06 COSM3474651 c.2995C>T p.H999Y Substitution - Missense 1:154268781-154268781 + TCGA-BR-8361-01 COSM896533 c.278C>T p.T93M Substitution - Missense 1:154228724-154228724 + TCGA-CG-4442-01 COSM4022770 c.2932G>A p.V978M Substitution - Missense 1:154266530-154266530 + C0045T COSM2208838 c.2718C>T p.Y906Y Substitution - coding silent 1:154261031-154261031 + TCGA-EE-A181-06 COSM3474625 c.974C>T p.S325L Substitution - Missense 1:154246335-154246335 + B96 COSM1747780 c.472G>A p.D158N Substitution - Missense 1:154235219-154235219 + Br27P COSM40736 c.422G>A p.G141E Substitution - Missense 1:154234733-154234733 + TCGA-IR-A3LI-01 COSM4846164 c.3131C>T p.S1044F Substitution - Missense 1:154268917-154268917 + 31T COSM3711145 c.1613C>A p.T538K Substitution - Missense 1:154251602-154251602 + RK234_C01 COSM4944999 c.2086A>G p.T696A Substitution - Missense 1:154255684-154255684 + S00841 COSM318252 c.1720G>T p.G574C Substitution - Missense 1:154253955-154253955 + TCGA-AN-A0AK-01 COSM3801993 c.1365T>C p.P455P Substitution - coding silent 1:154251192-154251192 + TCGA-FU-A3HZ-01 COSM4839426 c.1053A>C p.E351D Substitution - Missense 1:154249277-154249277 + DLD1 COSM4622121 c.2503T>C p.Y835H Substitution - Missense 1:154259954-154259954 + TCGA-AP-A051-01 COSM896550 c.2697C>T p.N899N Substitution - coding silent 1:154261010-154261010 + PD4203a COSM165362 c.1487C>G p.S496C Substitution - Missense 1:154251314-154251314 + LUAD-74TBW COSM354927 c.1537G>T p.G513W Substitution - Missense 1:154251526-154251526 + CCK81 COSM2208781 c.2132G>A p.G711E Substitution - Missense 1:154255730-154255730 + OSCC-GB_01360111 COSM5955557 c.2641C>T p.Q881* Substitution - Nonsense 1:154260954-154260954 + LUAD-S01356 COSM404383 c.3181C>T p.Q1061* Substitution - Nonsense 1:154270212-154270212 + TCGA-DC-6682-01 COSM1559960 c.899C>G p.S300C Substitution - Missense 1:154246260-154246260 + CSCC-31-T COSM4478114 c.2210C>T p.S737F Substitution - Missense 1:154257115-154257115 + TCGA-EE-A184-06 COSM3474631 c.2007C>A p.T669T Substitution - coding silent 1:154255249-154255249 + 70 COSM5744288 c.1642A>T p.S548C Substitution - Missense 1:154251631-154251631 + sysucc-274T COSM5475525 c.654C>T p.S218S Substitution - coding silent 1:154237087-154237087 + TCGA-B0-5098-01 COSM1491784 c.2034C>T p.G678G Substitution - coding silent 1:154255276-154255276 + CSCC-44-T COSM4511151 c.859C>T p.L287L Substitution - coding silent 1:154246220-154246220 + PD4958a COSM5801938 c.756+3_756+12delAGGTATTCCC p.? Unknown 1:154241568-154241577 + Gp5D COSM2208739 c.1701G>A p.Q567Q Substitution - coding silent 1:154253936-154253936 + RK308_C01 COSM2208860 c.3126G>A p.P1042P Substitution - coding silent 1:154268912-154268912 + HCT15 COSM1667998 c.1988C>A p.A663D Substitution - Missense 1:154255230-154255230 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.490551 1q21.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.H672P c.2015A>C 1 154227733 LUSC A C Missense p.Q35P c.104A>C 1 154199771 HNSC A C Missense p.S760R c.2278A>C 1 154229659 RCCC A C Missense p.T332P c.994A>C 1 154218831 RCCC A G Missense p.S555G c.1663A>G 1 154224128 BLCA A G Missense p.S555G c.1663A>G 1 154224128 UCEC A G Missense p.T358A c.1072A>G 1 154221772 UCEC A G Missense p.Y550C c.1649A>G 1 154224114 LUAD C A Missense p.L549M c.1645C>A 1 154224110 COREAD C A Missense p.P1069Q c.3206C>A 1 154242713 LUAD C A Missense p.P327H c.980C>A 1 154218817 UCEC C A Missense p.Q990K c.2968C>A 1 154239042 STAD C A Missense p.S539R c.1617C>A 1 154224082 PRAD C A Missense p.S675Y c.2024C>A 1 154227742 LUSC C A Missense p.S871Y c.2612C>A 1 154233401 BLCA C A Synonymous p.P747P c.2241C>A 1 154229622 LUAD C A Synonymous p.S583S c.1749C>A 1 154226460 STAD C A Synonymous p.T669T c.2007C>A 1 154227725 CM CC TT Missense p.P313F c.937_938delinsTT 1 154218774 CM C G 3-UTRSNV . c.3261+138C>G 1 154242906 BRCA CG AT Missense p.S982Y c.2945_2946delinsAT 1 154239019 CM CG AT Missense p.S982Y c.2945_2946delinsAT 1 154239019 THCA C G IntronicSNV . c.545-24C>G 1 154209018 NSCLC C G Missense p.Q616E c.1846C>G 1 154226557 BRCA C G Missense p.S496C c.1487C>G 1 154223790 BRCA C G Missense p.S634C c.1901C>G 1 154227358 BRCA C G Nonsense p.S512* c.1535C>G 1 154224000 LUAD C T IntronicSNV . c.2497-14C>T 1 154232410 CM C T IntronicSNV . c.2497-206C>T 1 154232218 CM C T Missense p.P417L c.1250C>T 1 154223553 CM C T Missense p.P480S c.1438C>T 1 154223741 STAD C T Missense p.P590S c.1768C>T 1 154226479 COREAD C T Missense p.P792S c.2374C>T 1 154229842 CM C T Missense p.P793L c.2378C>T 1 154229846 CM C T Missense p.P797L c.2390C>T 1 154229858 CM C T Missense p.P797L c.2390C>T 1 154229858 HNSC C T Missense p.R134C c.400C>T 1 154207187 GBM C T Missense p.R140W c.418C>T 1 154207205 BRCA C T Missense p.S1000F c.2999C>T 1 154241261 BRCA C T Missense p.S1067F c.3200C>T 1 154242707 GBM C T Missense p.S325L c.974C>T 1 154218811 CM C T Missense p.S634F c.1901C>T 1 154227358 HNSC C T Missense p.S673L c.2018C>T 1 154227736 LUSC C T Missense p.T537I c.1610C>T 1 154224075 COREAD C T Missense p.T93M c.278C>T 1 154201200 UCEC C T Nonsense p.Q20* c.58C>T 1 154197657 CM C T Synonymous p.F366F c.1098C>T 1 154221798 LUSC C T Synonymous p.F621F c.1863C>T 1 154227320 BRCA C T Synonymous p.L791L c.2373C>T 1 154229841 CM C T Synonymous p.S1063S c.3189C>T 1 154242696 CM C T Synonymous p.T738T c.2214C>T 1 154229595 LUSC G A Missense p.D127N c.379G>A 1 154207166 SCLC G A Missense p.G1060R c.3178G>A 1 154242685 STAD G A Missense p.G141E c.422G>A 1 154207209 GBM G A Missense p.G226D c.677G>A 1 154209586 CM G A Missense p.V414M c.1240G>A 1 154223543 HNSC G A SpliceAcceptorSNV . c.704-1G>A 1 154213988 LUAD G A Synonymous p.T696T c.2088G>A 1 154228162 UCEC G A Synonymous p.V947V c.2841G>A 1 154234112 BLCA G C Missense p.E437D c.1311G>C 1 154223614 BLCA G C Missense p.Q483H c.1449G>C 1 154223752 OV G T Missense p.A1030S c.3088G>T 1 154241350 NB G T Missense p.G1055V c.3164G>T 1 154241426 LUAD G T Missense p.G574C c.1720G>T 1 154226431 SCLC G T Synonymous p.V414V c.1242G>T 1 154223545 NSCLC T A Missense p.S751R c.2253T>A 1 154229634 STAD T C Synonymous p.S262S c.786T>C 1 154215722 ESCA T G Missense p.S116A c.346T>G 1 154207133 BRCA T - IntronicDeletion . c.2496+179delT 1 154231676 ESCA