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 2 24522788 24522788 + Missense_Mutation SNP T T C TCGA-OR-A5K5-01A-11D-A29I-10 TCGA-OR-A5K5-10A-01D-A29L-10 g.chr2:24522788T>C c.1334A>G c.(1333-1335)gAa>gGa p.E445G BLCA 2 24440778 24440778 + Silent SNP C C T TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr2:24440778C>T c.3804G>A c.(3802-3804)ctG>ctA p.L1268L BLCA 2 24469068 24469068 + Missense_Mutation SNP G G C TCGA-G2-AA3C-01A-21D-A391-08 TCGA-G2-AA3C-10A-01D-A394-08 g.chr2:24469068G>C c.3507C>G c.(3505-3507)atC>atG p.I1169M BLCA 2 24469142 24469142 + Missense_Mutation SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr2:24469142C>T c.3433G>A c.(3433-3435)Gag>Aag p.E1145K BLCA 2 24471552 24471552 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr2:24471552C>T c.3234G>A c.(3232-3234)caG>caA p.Q1078Q BLCA 2 24483991 24483991 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr2:24483991G>A c.2666C>T c.(2665-2667)tCa>tTa p.S889L BLCA 2 24484496 24484496 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr2:24484496G>A c.2471C>T c.(2470-2472)gCt>gTt p.A824V BLCA 2 24494686 24494686 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr2:24494686C>T c.2206G>A c.(2206-2208)Gag>Aag p.E736K BLCA 2 24507670 24507670 + Missense_Mutation SNP G G C TCGA-GV-A6ZA-01A-12D-A339-08 TCGA-GV-A6ZA-10A-01D-A339-08 g.chr2:24507670G>C c.1906C>G c.(1906-1908)Ctg>Gtg p.L636V BLCA 2 24509217 24509217 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 g.chr2:24509217G>A c.1727C>T c.(1726-1728)tCa>tTa p.S576L BLCA 2 24518535 24518535 + Nonsense_Mutation SNP G G A TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr2:24518535G>A c.1633C>T c.(1633-1635)Cag>Tag p.Q545* BLCA 2 24518661 24518661 + Nonsense_Mutation SNP G G A TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr2:24518661G>A c.1507C>T c.(1507-1509)Cag>Tag p.Q503* BLCA 2 24521593 24521593 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr2:24521593C>A c.1435G>T c.(1435-1437)Gaa>Taa p.E479* BLCA 2 24521601 24521601 + Missense_Mutation SNP C C G TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr2:24521601C>G c.1427G>C c.(1426-1428)aGa>aCa p.R476T BLCA 2 24521611 24521611 + Missense_Mutation SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 g.chr2:24521611G>C c.1417C>G c.(1417-1419)Caa>Gaa p.Q473E BLCA 2 24521615 24521615 + Silent SNP G G A TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr2:24521615G>A c.1413C>T c.(1411-1413)ctC>ctT p.L471L BLCA 2 24521660 24521660 + Silent SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr2:24521660T>C c.1368A>G c.(1366-1368)cgA>cgG p.R456R BLCA 2 24522785 24522785 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 g.chr2:24522785C>G c.1337G>C c.(1336-1338)aGa>aCa p.R446T BLCA 2 24522905 24522905 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 g.chr2:24522905C>T c.1217G>A c.(1216-1218)cGa>cAa p.R406Q BLCA 2 24522915 24522915 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 g.chr2:24522915C>T c.1207G>A c.(1207-1209)Gag>Aag p.E403K BLCA 2 24522981 24522981 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R5-01A-12D-A42E-08 TCGA-ZF-A9R5-10A-01D-A42H-08 g.chr2:24522981G>A c.1141C>T c.(1141-1143)Cga>Tga p.R381* BLCA 2 24523032 24523032 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 g.chr2:24523032C>G c.1090G>C c.(1090-1092)Gag>Cag p.E364Q BLCA 2 24524067 24524067 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr2:24524067G>A c.1037C>T c.(1036-1038)tCa>tTa p.S346L BLCA 2 24535188 24535188 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr2:24535188G>A c.245C>T c.(244-246)gCt>gTt p.A82V BLCA 2 24535214 24535214 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr2:24535214C>G c.219G>C c.(217-219)aaG>aaC p.K73N BLCA 2 24538026 24538026 + Silent SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr2:24538026G>C c.99C>G c.(97-99)ctC>ctG p.L33L BLCA 2 24538094 24538094 + Splice_Site SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr2:24538094C>T c.e3-1 BRCA 2 24427247 24427247 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:24427247C>G c.4803G>C c.(4801-4803)caG>caC p.Q1601H BRCA 2 24432862 24432862 + Missense_Mutation SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 g.chr2:24432862C>T c.4298G>A c.(4297-4299)cGg>cAg p.R1433Q BRCA 2 24433779 24433779 + Missense_Mutation SNP G G T TCGA-C8-A275-01A-21D-A16D-09 TCGA-C8-A275-10A-01D-A16D-09 g.chr2:24433779G>T c.4127C>A c.(4126-4128)tCc>tAc p.S1376Y BRCA 2 24469072 24469072 + Frame_Shift_Del DEL T T - TCGA-BH-A0AW-01A-11W-A071-09 TCGA-BH-A0AW-10A-01W-A071-09 g.chr2:24469072delT c.3503delA c.(3502-3504)gagfs p.E1168fs BRCA 2 24475287 24475288 + Missense_Mutation DNP TC TC AA TCGA-C8-A1HJ-01A-11D-A13L-09 TCGA-C8-A1HJ-10A-01D-A13O-09 g.chr2:24475287_24475288TC>AA c.3046_3047GA>TT c.(3046-3048)GAg>TTg p.E1016L BRCA 2 24484451 24484451 + Missense_Mutation SNP G G C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 g.chr2:24484451G>C c.2516C>G c.(2515-2517)tCt>tGt p.S839C BRCA 2 24484608 24484608 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 g.chr2:24484608C>T c.2359G>A c.(2359-2361)Gat>Aat p.D787N BRCA 2 24494689 24494689 + Missense_Mutation SNP C C G TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 g.chr2:24494689C>G c.2203G>C c.(2203-2205)Gct>Cct p.A735P BRCA 2 24494778 24494779 + Frame_Shift_Ins INS - - A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 g.chr2:24494778_24494779insA c.2113_2114insT c.(2113-2115)aaafs p.K705fs BRCA 2 24494798 24494799 + Frame_Shift_Ins INS - - C TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 g.chr2:24494798_24494799insC c.2093_2094insG c.(2092-2094)caafs p.Q698fs BRCA 2 24531572 24531572 + Missense_Mutation SNP G G A TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 g.chr2:24531572G>A c.707C>T c.(706-708)tCa>tTa p.S236L BRCA 2 24531579 24531579 + Missense_Mutation SNP C C A TCGA-A8-A08L-01A-11W-A019-09 TCGA-A8-A08L-10A-01W-A021-09 g.chr2:24531579C>A c.700G>T c.(700-702)Ggg>Tgg p.G234W BRCA 2 24535095 24535095 + Missense_Mutation SNP A A T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr2:24535095A>T c.338T>A c.(337-339)aTt>aAt p.I113N BRCA 2 24535098 24535098 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr2:24535098A>G c.335T>C c.(334-336)tTa>tCa p.L112S CESC 2 24439053 24439053 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr2:24439053C>T c.3855G>A c.(3853-3855)caG>caA p.Q1285Q CESC 2 24443894 24443894 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr2:24443894C>G c.3619G>C c.(3619-3621)Gag>Cag p.E1207Q CESC 2 24469689 24469689 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr2:24469689C>G c.3362G>C c.(3361-3363)aGa>aCa p.R1121T CESC 2 24471720 24471720 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr2:24471720G>A c.3152C>T c.(3151-3153)tCa>tTa p.S1051L CESC 2 24498643 24498643 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr2:24498643C>T c.2020G>A c.(2020-2022)Gaa>Aaa p.E674K CESC 2 24509100 24509100 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr2:24509100G>T c.1844C>A c.(1843-1845)tCt>tAt p.S615Y CESC 2 24518561 24518561 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr2:24518561T>A c.1607A>T c.(1606-1608)gAa>gTa p.E536V CESC 2 24521654 24521654 + Silent SNP A A G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr2:24521654A>G c.1374T>C c.(1372-1374)cgT>cgC p.R458R COAD 2 24428099 24428099 + Frame_Shift_Del DEL T T - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr2:24428099delT c.4746delA c.(4744-4746)aaafs p.K1582fs COAD 2 24428133 24428133 + Missense_Mutation SNP A A G TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr2:24428133A>G c.4712T>C c.(4711-4713)cTg>cCg p.L1571P COAD 2 24428168 24428168 + Splice_Site SNP T T C TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr2:24428168T>C c.e38-2 COAD 2 24431125 24431127 + In_Frame_Del DEL CTT CTT - TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr2:24431125_24431127delCTT c.4657_4659delAAG c.(4657-4659)aagdel p.K1553del COAD 2 24432688 24432688 + Splice_Site SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:24432688G>A c.4472C>T c.(4471-4473)aCg>aTg p.T1491M COAD 2 24438975 24438975 + Silent SNP T T C TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr2:24438975T>C c.3933A>G c.(3931-3933)ggA>ggG p.G1311G COAD 2 24438975 24438975 + Silent SNP T T C TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr2:24438975T>C c.3933A>G c.(3931-3933)ggA>ggG p.G1311G COAD 2 24438977 24438977 + Missense_Mutation SNP C C T TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr2:24438977C>T c.3931G>A c.(3931-3933)Gga>Aga p.G1311R COAD 2 24469741 24469741 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:24469741T>G c.3310A>C c.(3310-3312)Aaa>Caa p.K1104Q COAD 2 24469746 24469746 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr2:24469746C>T c.3305G>A c.(3304-3306)cGa>cAa p.R1102Q COAD 2 24471549 24471549 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:24471549T>G c.3237A>C c.(3235-3237)ttA>ttC p.L1079F COAD 2 24484598 24484599 + Frame_Shift_Ins INS - - T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:24484598_24484599insT c.2368_2369insA c.(2368-2370)accfs p.T790fs COAD 2 24498605 24498605 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:24498605C>A c.2058G>T c.(2056-2058)aaG>aaT p.K686N COAD 2 24521606 24521606 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:24521606C>A c.1422G>T c.(1420-1422)aaG>aaT p.K474N COAD 2 24521632 24521632 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:24521632G>A c.1396C>T c.(1396-1398)Cgg>Tgg p.R466W COAD 2 24522816 24522816 + Nonsense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:24522816G>A c.1306C>T c.(1306-1308)Cga>Tga p.R436* COAD 2 24522848 24522848 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr2:24522848C>T c.1274G>A c.(1273-1275)cGc>cAc p.R425H COAD 2 24522905 24522905 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:24522905C>T c.1217G>A c.(1216-1218)cGa>cAa p.R406Q COAD 2 24524839 24524839 + Silent SNP A A G TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr2:24524839A>G c.990T>C c.(988-990)tcT>tcC p.S330S COAD 2 24524839 24524839 + Silent SNP A A G TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr2:24524839A>G c.990T>C c.(988-990)tcT>tcC p.S330S COAD 2 24524841 24524841 + Missense_Mutation SNP A A G TCGA-AZ-6605-01A-11D-1835-10 TCGA-AZ-6605-11A-01D-1835-10 g.chr2:24524841A>G c.988T>C c.(988-990)Tct>Cct p.S330P COAD 2 24524841 24524841 + Missense_Mutation SNP A A G TCGA-CK-5912-01A-11D-1650-10 TCGA-CK-5912-10A-01D-1650-10 g.chr2:24524841A>G c.988T>C c.(988-990)Tct>Cct p.S330P COAD 2 24526713 24526713 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:24526713G>A c.812C>T c.(811-813)gCc>gTc p.A271V COAD 2 24533544 24533544 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:24533544T>C c.370A>G c.(370-372)Aat>Gat p.N124D COAD 2 24536387 24536387 + Nonsense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:24536387G>A c.130C>T c.(130-132)Caa>Taa p.Q44* COAD 2 24538019 24538019 + Missense_Mutation SNP A A G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr2:24538019A>G c.106T>C c.(106-108)Tca>Cca p.S36P COAD 2 24538058 24538058 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr2:24538058G>A c.67C>T c.(67-69)Cgt>Tgt p.R23C COADREAD 2 24428099 24428099 + Frame_Shift_Del DEL T T - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr2:24428099delT c.4746delA c.(4744-4746)aaafs p.K1582fs COADREAD 2 24428133 24428133 + Missense_Mutation SNP A A G TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr2:24428133A>G c.4712T>C c.(4711-4713)cTg>cCg p.L1571P COADREAD 2 24428168 24428168 + Splice_Site SNP T T C TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr2:24428168T>C c.e38-2 COADREAD 2 24431125 24431127 + In_Frame_Del DEL CTT CTT - TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr2:24431125_24431127delCTT c.4657_4659delAAG c.(4657-4659)aagdel p.K1553del COADREAD 2 24432688 24432688 + Splice_Site SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:24432688G>A c.4472C>T c.(4471-4473)aCg>aTg p.T1491M COADREAD 2 24438975 24438975 + Silent SNP T T C TCGA-CI-6620-01A-11D-1826-10 TCGA-CI-6620-10A-01D-1826-10 g.chr2:24438975T>C c.3933A>G c.(3931-3933)ggA>ggG p.G1311G COADREAD 2 24438975 24438975 + Silent SNP T T C TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr2:24438975T>C c.3933A>G c.(3931-3933)ggA>ggG p.G1311G COADREAD 2 24438975 24438975 + Silent SNP T T C TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr2:24438975T>C c.3933A>G c.(3931-3933)ggA>ggG p.G1311G COADREAD 2 24438975 24438975 + Silent SNP T T C TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr2:24438975T>C c.3933A>G c.(3931-3933)ggA>ggG p.G1311G COADREAD 2 24438977 24438977 + Missense_Mutation SNP C C T TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr2:24438977C>T c.3931G>A c.(3931-3933)Gga>Aga p.G1311R COADREAD 2 24438977 24438977 + Missense_Mutation SNP C C T TCGA-DC-6155-01A-11D-1657-10 TCGA-DC-6155-10A-01D-1657-10 g.chr2:24438977C>T c.3931G>A c.(3931-3933)Gga>Aga p.G1311R COADREAD 2 24469741 24469741 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:24469741T>G c.3310A>C c.(3310-3312)Aaa>Caa p.K1104Q COADREAD 2 24469746 24469746 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr2:24469746C>T c.3305G>A c.(3304-3306)cGa>cAa p.R1102Q COADREAD 2 24471549 24471549 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:24471549T>G c.3237A>C c.(3235-3237)ttA>ttC p.L1079F COADREAD 2 24484598 24484599 + Frame_Shift_Ins INS - - T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:24484598_24484599insT c.2368_2369insA c.(2368-2370)accfs p.T790fs COADREAD 2 24498605 24498605 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:24498605C>A c.2058G>T c.(2056-2058)aaG>aaT p.K686N COADREAD 2 24498709 24498709 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:24498709C>A c.1954G>T c.(1954-1956)Gaa>Taa p.E652* COADREAD 2 24521590 24521590 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:24521590C>A c.1438G>T c.(1438-1440)Gaa>Taa p.E480* COADREAD 2 24521606 24521606 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:24521606C>A c.1422G>T c.(1420-1422)aaG>aaT p.K474N COADREAD 2 24521632 24521632 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:24521632G>A c.1396C>T c.(1396-1398)Cgg>Tgg p.R466W COADREAD 2 24522816 24522816 + Nonsense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:24522816G>A c.1306C>T c.(1306-1308)Cga>Tga p.R436* COADREAD 2 24522848 24522848 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr2:24522848C>T c.1274G>A c.(1273-1275)cGc>cAc p.R425H COADREAD 2 24522905 24522905 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:24522905C>T c.1217G>A c.(1216-1218)cGa>cAa p.R406Q COADREAD 2 24524839 24524839 + Silent SNP A A G TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr2:24524839A>G c.990T>C c.(988-990)tcT>tcC p.S330S COADREAD 2 24524839 24524839 + Silent SNP A A G TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr2:24524839A>G c.990T>C c.(988-990)tcT>tcC p.S330S COADREAD 2 24524841 24524841 + Missense_Mutation SNP A A G TCGA-AZ-6605-01A-11D-1835-10 TCGA-AZ-6605-11A-01D-1835-10 g.chr2:24524841A>G c.988T>C c.(988-990)Tct>Cct p.S330P COADREAD 2 24524841 24524841 + Missense_Mutation SNP A A G TCGA-CK-5912-01A-11D-1650-10 TCGA-CK-5912-10A-01D-1650-10 g.chr2:24524841A>G c.988T>C c.(988-990)Tct>Cct p.S330P COADREAD 2 24526713 24526713 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:24526713G>A c.812C>T c.(811-813)gCc>gTc p.A271V COADREAD 2 24526719 24526719 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:24526719C>A c.806G>T c.(805-807)aGa>aTa p.R269I COADREAD 2 24533544 24533544 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:24533544T>C c.370A>G c.(370-372)Aat>Gat p.N124D COADREAD 2 24535212 24535212 + Missense_Mutation SNP A A T TCGA-AG-3587-01A-01W-0831-10 TCGA-AG-3587-10A-01W-0831-10 g.chr2:24535212A>T c.221T>A c.(220-222)aTg>aAg p.M74K COADREAD 2 24536387 24536387 + Nonsense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:24536387G>A c.130C>T c.(130-132)Caa>Taa p.Q44* COADREAD 2 24538019 24538019 + Missense_Mutation SNP A A G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr2:24538019A>G c.106T>C c.(106-108)Tca>Cca p.S36P COADREAD 2 24538058 24538058 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr2:24538058G>A c.67C>T c.(67-69)Cgt>Tgt p.R23C DLBC 2 24426581 24426581 + Missense_Mutation SNP G G A TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr2:24426581G>A c.5008C>T c.(5008-5010)Cgc>Tgc p.R1670C DLBC 2 24498674 24498674 + Silent SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr2:24498674C>T c.1989G>A c.(1987-1989)caG>caA p.Q663Q ESCA 2 24427241 24427241 + Nonsense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 g.chr2:24427241G>T c.4809C>A c.(4807-4809)taC>taA p.Y1603* ESCA 2 24432863 24432863 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 g.chr2:24432863G>T c.4297C>A c.(4297-4299)Cgg>Agg p.R1433R ESCA 2 24443832 24443832 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 g.chr2:24443832G>T c.3681C>A c.(3679-3681)gaC>gaA p.D1227E GBM 2 24435600 24435600 + Silent SNP C C T TCGA-41-2572-01A-01D-1353-08 TCGA-41-2572-10A-01D-1353-08 g.chr2:24435600C>T c.4008G>A c.(4006-4008)ccG>ccA p.P1336P GBM 2 24526701 24526701 + Missense_Mutation SNP G G A TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 g.chr2:24526701G>A c.824C>T c.(823-825)tCa>tTa p.S275L GBMLGG 2 24435600 24435600 + Silent SNP C C T TCGA-41-2572-01A-01D-1353-08 TCGA-41-2572-10A-01D-1353-08 g.chr2:24435600C>T c.4008G>A c.(4006-4008)ccG>ccA p.P1336P GBMLGG 2 24494740 24494740 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:24494740G>A c.2152C>T c.(2152-2154)Cga>Tga p.R718* GBMLGG 2 24524110 24524111 + Splice_Site INS - - A TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 g.chr2:24524110_24524111insA c.e11-2 GBMLGG 2 24526701 24526701 + Missense_Mutation SNP G G A TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 g.chr2:24526701G>A c.824C>T c.(823-825)tCa>tTa p.S275L HNSC 2 24428137 24428137 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr2:24428137G>A c.4708C>T c.(4708-4710)Cgc>Tgc p.R1570C HNSC 2 24431971 24431971 + Silent SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr2:24431971C>T c.4593G>A c.(4591-4593)gaG>gaA p.E1531E HNSC 2 24431985 24431985 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr2:24431985C>G c.4579G>C c.(4579-4581)Gac>Cac p.D1527H HNSC 2 24432036 24432036 + Nonsense_Mutation SNP C C A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr2:24432036C>A c.4528G>T c.(4528-4530)Gag>Tag p.E1510* HNSC 2 24432687 24432687 + Splice_Site SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 g.chr2:24432687C>T c.4473G>A c.(4471-4473)acG>acA p.T1491T HNSC 2 24432884 24432884 + Missense_Mutation SNP G G C TCGA-CR-7390-01A-11D-2012-08 TCGA-CR-7390-10A-01D-2013-08 g.chr2:24432884G>C c.4276C>G c.(4276-4278)Ctc>Gtc p.L1426V HNSC 2 24433775 24433775 + Silent SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr2:24433775G>A c.4131C>T c.(4129-4131)tcC>tcT p.S1377S HNSC 2 24440837 24440837 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr2:24440837C>G c.3745G>C c.(3745-3747)Gag>Cag p.E1249Q HNSC 2 24443816 24443816 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr2:24443816C>T c.3697G>A c.(3697-3699)Gag>Aag p.E1233K HNSC 2 24469021 24469023 + In_Frame_Del DEL GTC GTC - TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 g.chr2:24469021_24469023delGTC c.3552_3554delGAC c.(3550-3555)acgaca>aca p.1184_1185TT>T HNSC 2 24471560 24471560 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 g.chr2:24471560G>A c.3226C>T c.(3226-3228)Cca>Tca p.P1076S HNSC 2 24471709 24471710 + Frame_Shift_Ins INS - - T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 g.chr2:24471709_24471710insT c.3162_3163insA c.(3160-3165)aaacctfs p.P1055fs HNSC 2 24480764 24480764 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 g.chr2:24480764G>A c.2881C>T c.(2881-2883)Cgg>Tgg p.R961W HNSC 2 24480820 24480820 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 g.chr2:24480820C>T c.2825G>A c.(2824-2826)gGa>gAa p.G942E HNSC 2 24484450 24484450 + Silent SNP A A T TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr2:24484450A>T c.2517T>A c.(2515-2517)tcT>tcA p.S839S HNSC 2 24484540 24484540 + Silent SNP T T A TCGA-CV-7248-01A-11D-2012-08 TCGA-CV-7248-10A-01D-2013-08 g.chr2:24484540T>A c.2427A>T c.(2425-2427)ccA>ccT p.P809P HNSC 2 24484594 24484594 + Silent SNP T T A TCGA-CV-A6JY-01A-11D-A31L-08 TCGA-CV-A6JY-10A-01D-A31J-08 g.chr2:24484594T>A c.2373A>T c.(2371-2373)gtA>gtT p.V791V HNSC 2 24494796 24494796 + Missense_Mutation SNP C C A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 g.chr2:24494796C>A c.2096G>T c.(2095-2097)gGa>gTa p.G699V HNSC 2 24498605 24498606 + Frame_Shift_Ins INS - - T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 g.chr2:24498605_24498606insT c.2057_2058insA c.(2056-2058)aagfs p.K686fs HNSC 2 24507701 24507701 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 g.chr2:24507701C>G c.1875G>C c.(1873-1875)atG>atC p.M625I HNSC 2 24516638 24516638 + Missense_Mutation SNP G G C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 g.chr2:24516638G>C c.1642C>G c.(1642-1644)Cag>Gag p.Q548E HNSC 2 24521568 24521568 + Missense_Mutation SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chr2:24521568T>C c.1460A>G c.(1459-1461)aAa>aGa p.K487R HNSC 2 24521584 24521584 + Missense_Mutation SNP C C A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 g.chr2:24521584C>A c.1444G>T c.(1444-1446)Gtc>Ttc p.V482F HNSC 2 24522802 24522802 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr2:24522802C>G c.1320G>C c.(1318-1320)agG>agC p.R440S HNSC 2 24522815 24522815 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 g.chr2:24522815C>T c.1307G>A c.(1306-1308)cGa>cAa p.R436Q HNSC 2 24522843 24522843 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr2:24522843C>G c.1279G>C c.(1279-1281)Gag>Cag p.E427Q HNSC 2 24533505 24533505 + Missense_Mutation SNP T T C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 g.chr2:24533505T>C c.409A>G c.(409-411)Ata>Gta p.I137V KIPAN 2 24435521 24435521 + Frame_Shift_Del DEL T T - TCGA-B0-5710-01A-11D-1669-08 TCGA-B0-5710-11A-01D-1669-08 g.chr2:24435521delT c.4087delA c.(4087-4089)agtfs p.S1363fs KIPAN 2 24435589 24435589 + Frame_Shift_Del DEL C C - TCGA-CJ-4918-01A-01D-1429-08 TCGA-CJ-4918-11A-01D-1429-08 g.chr2:24435589delC c.4019delG c.(4018-4020)ggafs p.G1340fs KIPAN 2 24469086 24469086 + Silent SNP A A G TCGA-AK-3430-01A-01D-1251-10 TCGA-AK-3430-10A-01D-1251-10 g.chr2:24469086A>G c.3489T>C c.(3487-3489)gaT>gaC p.D1163D KIPAN 2 24469667 24469667 + Splice_Site SNP A A G TCGA-MH-A55W-01A-11D-A26P-10 TCGA-MH-A55W-10A-01D-A26P-10 g.chr2:24469667A>G c.3384T>C c.(3382-3384)ccT>ccC p.P1128P KIPAN 2 24493591 24493591 + Silent SNP A A G TCGA-BP-4761-01A-01D-1366-10 TCGA-BP-4761-11A-01D-1366-10 g.chr2:24493591A>G c.2304T>C c.(2302-2304)ttT>ttC p.F768F KIPAN 2 24494732 24494732 + Missense_Mutation SNP C C G TCGA-BP-5195-01A-02D-1429-08 TCGA-BP-5195-11A-01D-1429-08 g.chr2:24494732C>G c.2160G>C c.(2158-2160)caG>caC p.Q720H KIPAN 2 24509153 24509155 + In_Frame_Del DEL TTC TTC - TCGA-G7-6795-01A-11D-1961-08 TCGA-G7-6795-10A-01D-1962-08 g.chr2:24509153_24509155delTTC c.1789_1791delGAA c.(1789-1791)gaadel p.E597del KIPAN 2 24524074 24524074 + Missense_Mutation SNP G G C TCGA-UZ-A9PX-01A-11D-A42J-10 TCGA-UZ-A9PX-10A-01D-A42M-10 g.chr2:24524074G>C c.1030C>G c.(1030-1032)Ctg>Gtg p.L344V KIPAN 2 24524884 24524884 + Silent SNP T T G TCGA-BP-4964-01A-01D-1462-08 TCGA-BP-4964-11A-01D-1462-08 g.chr2:24524884T>G c.945A>C c.(943-945)ggA>ggC p.G315G KIPAN 2 24535083 24535086 + Frame_Shift_Del DEL AAAC AAAC - TCGA-IA-A83S-01A-11D-A34Z-10 TCGA-IA-A83S-11A-11D-A34Z-10 g.chr2:24535083_24535086delAAAC c.347_350delGTTT c.(346-351)cgttttfs p.RF116fs KIPAN 2 24535088 24535094 + Frame_Shift_Del DEL AGCAGAA AGCAGAA - TCGA-IA-A83S-01A-11D-A34Z-10 TCGA-IA-A83S-11A-11D-A34Z-10 g.chr2:24535088_24535094delAGCAGAA c.339_345delTTCTGCT c.(337-345)atttctgctfs p.ISA113fs KIPAN 2 24535240 24535240 + Silent SNP A A G TCGA-BP-5168-01A-01D-1421-08 TCGA-BP-5168-11A-01D-1421-08 g.chr2:24535240A>G c.193T>C c.(193-195)Tta>Cta p.L65L KIRC 2 24435521 24435521 + Frame_Shift_Del DEL T T - TCGA-B0-5710-01A-11D-1669-08 TCGA-B0-5710-11A-01D-1669-08 g.chr2:24435521delT c.4087delA c.(4087-4089)agtfs p.S1363fs KIRC 2 24435589 24435589 + Frame_Shift_Del DEL C C - TCGA-CJ-4918-01A-01D-1429-08 TCGA-CJ-4918-11A-01D-1429-08 g.chr2:24435589delC c.4019delG c.(4018-4020)ggafs p.G1340fs KIRC 2 24469086 24469086 + Silent SNP A A G TCGA-AK-3430-01A-01D-1251-10 TCGA-AK-3430-10A-01D-1251-10 g.chr2:24469086A>G c.3489T>C c.(3487-3489)gaT>gaC p.D1163D KIRC 2 24493591 24493591 + Silent SNP A A G TCGA-BP-4761-01A-01D-1366-10 TCGA-BP-4761-11A-01D-1366-10 g.chr2:24493591A>G c.2304T>C c.(2302-2304)ttT>ttC p.F768F KIRC 2 24494732 24494732 + Missense_Mutation SNP C C G TCGA-BP-5195-01A-02D-1429-08 TCGA-BP-5195-11A-01D-1429-08 g.chr2:24494732C>G c.2160G>C c.(2158-2160)caG>caC p.Q720H KIRC 2 24524884 24524884 + Silent SNP T T G TCGA-BP-4964-01A-01D-1462-08 TCGA-BP-4964-11A-01D-1462-08 g.chr2:24524884T>G c.945A>C c.(943-945)ggA>ggC p.G315G KIRC 2 24535240 24535240 + Silent SNP A A G TCGA-BP-5168-01A-01D-1421-08 TCGA-BP-5168-11A-01D-1421-08 g.chr2:24535240A>G c.193T>C c.(193-195)Tta>Cta p.L65L KIRP 2 24469667 24469667 + Splice_Site SNP A A G TCGA-MH-A55W-01A-11D-A26P-10 TCGA-MH-A55W-10A-01D-A26P-10 g.chr2:24469667A>G c.3384T>C c.(3382-3384)ccT>ccC p.P1128P KIRP 2 24509153 24509155 + In_Frame_Del DEL TTC TTC - TCGA-G7-6795-01A-11D-1961-08 TCGA-G7-6795-10A-01D-1962-08 g.chr2:24509153_24509155delTTC c.1789_1791delGAA c.(1789-1791)gaadel p.E597del KIRP 2 24524074 24524074 + Missense_Mutation SNP G G C TCGA-UZ-A9PX-01A-11D-A42J-10 TCGA-UZ-A9PX-10A-01D-A42M-10 g.chr2:24524074G>C c.1030C>G c.(1030-1032)Ctg>Gtg p.L344V KIRP 2 24535083 24535086 + Frame_Shift_Del DEL AAAC AAAC - TCGA-IA-A83S-01A-11D-A34Z-10 TCGA-IA-A83S-11A-11D-A34Z-10 g.chr2:24535083_24535086delAAAC c.347_350delGTTT c.(346-351)cgttttfs p.RF116fs KIRP 2 24535088 24535094 + Frame_Shift_Del DEL AGCAGAA AGCAGAA - TCGA-IA-A83S-01A-11D-A34Z-10 TCGA-IA-A83S-11A-11D-A34Z-10 g.chr2:24535088_24535094delAGCAGAA c.339_345delTTCTGCT c.(337-345)atttctgctfs p.ISA113fs LGG 2 24494740 24494740 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:24494740G>A c.2152C>T c.(2152-2154)Cga>Tga p.R718* LGG 2 24524110 24524111 + Splice_Site INS - - A TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 g.chr2:24524110_24524111insA c.e11-2 LIHC 2 24438936 24438936 + Silent SNP A A G TCGA-CC-A5UD-01A-11D-A28X-10 TCGA-CC-A5UD-10A-01D-A28X-10 g.chr2:24438936A>G c.3972T>C c.(3970-3972)gaT>gaC p.D1324D LIHC 2 24469141 24469141 + Missense_Mutation SNP T T C TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr2:24469141T>C c.3434A>G c.(3433-3435)gAg>gGg p.E1145G LIHC 2 24516590 24516590 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr2:24516590delT c.1690delA c.(1690-1692)agafs p.R564fs LIHC 2 24535152 24535152 + Missense_Mutation SNP T T A TCGA-BW-A5NP-01A-11D-A27I-10 TCGA-BW-A5NP-10A-01D-A27I-10 g.chr2:24535152T>A c.281A>T c.(280-282)cAg>cTg p.Q94L LUAD 2 24432687 24432687 + Splice_Site SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 g.chr2:24432687C>T c.4473G>A c.(4471-4473)acG>acA p.T1491T LUAD 2 24432712 24432712 + Missense_Mutation SNP T T C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr2:24432712T>C c.4448A>G c.(4447-4449)aAt>aGt p.N1483S LUAD 2 24443819 24443819 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 g.chr2:24443819C>A c.3694G>T c.(3694-3696)Gtc>Ttc p.V1232F LUAD 2 24475348 24475348 + Missense_Mutation SNP C C G TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr2:24475348C>G c.2986G>C c.(2986-2988)Gaa>Caa p.E996Q LUAD 2 24480909 24480909 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr2:24480909C>G c.2736G>C c.(2734-2736)aaG>aaC p.K912N LUAD 2 24483995 24483995 + Missense_Mutation SNP C C T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr2:24483995C>T c.2662G>A c.(2662-2664)Gta>Ata p.V888I LUAD 2 24484500 24484500 + Missense_Mutation SNP T T C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 g.chr2:24484500T>C c.2467A>G c.(2467-2469)Aaa>Gaa p.K823E LUAD 2 24494747 24494747 + Silent SNP T T C TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr2:24494747T>C c.2145A>G c.(2143-2145)aaA>aaG p.K715K LUAD 2 24498701 24498701 + Nonsense_Mutation SNP G G T TCGA-55-6971-01A-11D-1945-08 TCGA-55-6971-11A-01D-1945-08 g.chr2:24498701G>T c.1962C>A c.(1960-1962)taC>taA p.Y654* LUAD 2 24507633 24507633 + Splice_Site SNP T T A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr2:24507633T>A c.1943A>T c.(1942-1944)aAg>aTg p.K648M LUAD 2 24516556 24516556 + Splice_Site SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr2:24516556C>G c.e15+1 LUAD 2 24522911 24522911 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr2:24522911C>A c.1211G>T c.(1210-1212)tGg>tTg p.W404L LUAD 2 24522942 24522942 + Missense_Mutation SNP C C G TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr2:24522942C>G c.1180G>C c.(1180-1182)Gaa>Caa p.E394Q LUAD 2 24533223 24533223 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr2:24533223G>C c.583C>G c.(583-585)Ctg>Gtg p.L195V LUAD 2 24533250 24533250 + Splice_Site SNP C C T TCGA-44-5643-01A-01D-1625-08 TCGA-44-5643-10A-01D-1625-08 g.chr2:24533250C>T c.e7-1 LUAD 2 24533500 24533500 + Silent SNP T T A TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr2:24533500T>A c.414A>T c.(412-414)acA>acT p.T138T LUAD 2 24535184 24535184 + Missense_Mutation SNP C C T TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr2:24535184C>T c.249G>A c.(247-249)atG>atA p.M83I LUAD 2 24550935 24550935 + Missense_Mutation SNP G G A TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr2:24550935G>A c.17C>T c.(16-18)cCc>cTc p.P6L LUSC 2 24427169 24427169 + Silent SNP G G C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr2:24427169G>C c.4881C>G c.(4879-4881)ctC>ctG p.L1627L LUSC 2 24432886 24432886 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr2:24432886G>A c.4274C>T c.(4273-4275)tCt>tTt p.S1425F LUSC 2 24435597 24435597 + Silent SNP C C A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr2:24435597C>A c.4011G>T c.(4009-4011)cgG>cgT p.R1337R LUSC 2 24435600 24435600 + Silent SNP C C A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr2:24435600C>A c.4008G>T c.(4006-4008)ccG>ccT p.P1336P LUSC 2 24480961 24480961 + Splice_Site SNP C C T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chr2:24480961C>T c.2684G>A c.(2683-2685)gGa>gAa p.G895E LUSC 2 24484607 24484607 + Missense_Mutation SNP T T A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr2:24484607T>A c.2360A>T c.(2359-2361)gAt>gTt p.D787V LUSC 2 24494810 24494810 + Splice_Site SNP C C T TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr2:24494810C>T c.2082G>A c.(2080-2082)agG>agA p.R694R LUSC 2 24524030 24524030 + Missense_Mutation SNP T T A TCGA-66-2768-01A-01D-1522-08 TCGA-66-2768-11A-01D-1522-08 g.chr2:24524030T>A c.1074A>T c.(1072-1074)aaA>aaT p.K358N LUSC 2 24524941 24524941 + Silent SNP C C T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chr2:24524941C>T c.888G>A c.(886-888)caG>caA p.Q296Q OV 2 24432884 24432884 + Missense_Mutation SNP G G C TCGA-29-1766-01A-01W-0633-09 TCGA-29-1766-10A-01W-0634-09 g.chr2:24432884G>C c.4276C>G c.(4276-4278)Ctc>Gtc p.L1426V OV 2 24433676 24433676 + Silent SNP C C T TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 g.chr2:24433676C>T c.4230G>A c.(4228-4230)gcG>gcA p.A1410A OV 2 24524840 24524840 + Missense_Mutation SNP G G C TCGA-23-1122-01A-01W-0486-08 TCGA-23-1122-10A-01W-0486-08 g.chr2:24524840G>C c.989C>G c.(988-990)tCt>tGt p.S330C OV 2 24533517 24533517 + Missense_Mutation SNP G G C TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 g.chr2:24533517G>C c.397C>G c.(397-399)Cca>Gca p.P133A PAAD 2 24432754 24432754 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 g.chr2:24432754G>A c.4406C>T c.(4405-4407)gCt>gTt p.A1469V PAAD 2 24471562 24471562 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:24471562G>A c.3224C>T c.(3223-3225)gCa>gTa p.A1075V PAAD 2 24484038 24484038 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:24484038C>T c.2619G>A c.(2617-2619)tgG>tgA p.W873* PAAD 2 24521586 24521586 + Missense_Mutation SNP A A G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 g.chr2:24521586A>G c.1442T>C c.(1441-1443)aTt>aCt p.I481T PAAD 2 24531532 24531532 + Silent SNP C C T TCGA-US-A77E-01A-11D-A32N-08 TCGA-US-A77E-11A-11D-A32N-08 g.chr2:24531532C>T c.747G>A c.(745-747)cgG>cgA p.R249R PAAD 2 24533163 24533163 + Nonsense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:24533163C>A c.643G>T c.(643-645)Gga>Tga p.G215* PAAD 2 24533237 24533237 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 g.chr2:24533237C>T c.569G>A c.(568-570)gGg>gAg p.G190E PRAD 2 24427160 24427160 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:24427160G>A c.4890C>T c.(4888-4890)gaC>gaT p.D1630D PRAD 2 24432816 24432816 + Missense_Mutation SNP C C A TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 g.chr2:24432816C>A c.4344G>T c.(4342-4344)aaG>aaT p.K1448N PRAD 2 24433672 24433672 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:24433672C>T c.4234G>A c.(4234-4236)Gtg>Atg p.V1412M PRAD 2 24483975 24483975 + Splice_Site SNP C C A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 g.chr2:24483975C>A c.2682G>T c.(2680-2682)caG>caT p.Q894H PRAD 2 24526684 24526684 + Nonsense_Mutation SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 g.chr2:24526684G>A c.841C>T c.(841-843)Cag>Tag p.Q281* READ 2 24438975 24438975 + Silent SNP T T C TCGA-CI-6620-01A-11D-1826-10 TCGA-CI-6620-10A-01D-1826-10 g.chr2:24438975T>C c.3933A>G c.(3931-3933)ggA>ggG p.G1311G READ 2 24438975 24438975 + Silent SNP T T C TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr2:24438975T>C c.3933A>G c.(3931-3933)ggA>ggG p.G1311G READ 2 24438977 24438977 + Missense_Mutation SNP C C T TCGA-DC-6155-01A-11D-1657-10 TCGA-DC-6155-10A-01D-1657-10 g.chr2:24438977C>T c.3931G>A c.(3931-3933)Gga>Aga p.G1311R READ 2 24498709 24498709 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:24498709C>A c.1954G>T c.(1954-1956)Gaa>Taa p.E652* READ 2 24521590 24521590 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:24521590C>A c.1438G>T c.(1438-1440)Gaa>Taa p.E480* READ 2 24526719 24526719 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:24526719C>A c.806G>T c.(805-807)aGa>aTa p.R269I READ 2 24535212 24535212 + Missense_Mutation SNP A A T TCGA-AG-3587-01A-01W-0831-10 TCGA-AG-3587-10A-01W-0831-10 g.chr2:24535212A>T c.221T>A c.(220-222)aTg>aAg p.M74K SARC 2 24484029 24484029 + Frame_Shift_Del DEL T T - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr2:24484029delT c.2628delA c.(2626-2628)aaafs p.K876fs SARC 2 24507680 24507680 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr2:24507680G>A c.1896C>T c.(1894-1896)tgC>tgT p.C632C SKCM 2 24426500 24426500 + Silent SNP G G A TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chr2:24426500G>A c.5089C>T c.(5089-5091)Ctg>Ttg p.L1697L SKCM 2 24428097 24428097 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr2:24428097G>A c.4748C>T c.(4747-4749)gCc>gTc p.A1583V SKCM 2 24435576 24435576 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr2:24435576G>A c.4032C>T c.(4030-4032)tcC>tcT p.S1344S SKCM 2 24469741 24469742 + Frame_Shift_Del DEL TC TC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr2:24469741_24469742delTC c.3309_3310delGA c.(3307-3312)cagaaafs p.K1104fs SKCM 2 24480778 24480778 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:24480778C>T c.2867G>A c.(2866-2868)gGg>gAg p.G956E SKCM 2 24483983 24483983 + Missense_Mutation SNP G G A TCGA-EB-A5SG-06A-11D-A30X-08 TCGA-EB-A5SG-10A-01D-A30X-08 g.chr2:24483983G>A c.2674C>T c.(2674-2676)Cat>Tat p.H892Y SKCM 2 24498660 24498660 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:24498660T>C c.2003A>G c.(2002-2004)aAa>aGa p.K668R SKCM 2 24507641 24507641 + Silent SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr2:24507641G>A c.1935C>T c.(1933-1935)ctC>ctT p.L645L SKCM 2 24507679 24507679 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:24507679G>A c.1897C>T c.(1897-1899)Ctt>Ttt p.L633F SKCM 2 24509190 24509190 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr2:24509190G>A c.1754C>T c.(1753-1755)tCa>tTa p.S585L SKCM 2 24518562 24518562 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr2:24518562C>T c.1606G>A c.(1606-1608)Gaa>Aaa p.E536K SKCM 2 24521542 24521542 + Missense_Mutation SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr2:24521542C>T c.1486G>A c.(1486-1488)Gaa>Aaa p.E496K SKCM 2 24521638 24521638 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:24521638T>C c.1390A>G c.(1390-1392)Aga>Gga p.R464G SKCM 2 24522854 24522854 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr2:24522854T>A c.1268A>T c.(1267-1269)gAa>gTa p.E423V SKCM 2 24522949 24522949 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr2:24522949C>T c.1173G>A c.(1171-1173)agG>agA p.R391R SKCM 2 24523000 24523000 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr2:24523000C>T c.1122G>A c.(1120-1122)ggG>ggA p.G374G SKCM 2 24533432 24533432 + Missense_Mutation SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr2:24533432G>A c.482C>T c.(481-483)tCt>tTt p.S161F SKCM 2 24533444 24533444 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 g.chr2:24533444G>A c.470C>T c.(469-471)cCc>cTc p.P157L SKCM 2 24533469 24533469 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:24533469G>A c.445C>T c.(445-447)Ctt>Ttt p.L149F SKCM 2 24535101 24535101 + Missense_Mutation SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr2:24535101G>A c.332C>T c.(331-333)cCa>cTa p.P111L

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 2 24432067 24432067 single base substitution C G exon_variant BLCA-CN 2 24432067 24432067 single base substitution C G intron_variant BLCA-CN 2 24432067 24432067 single base substitution C G missense_variant L1472F 4416G>C BLCA-CN 2 24432067 24432067 single base substitution C G missense_variant L1499F 4497G>C BLCA-CN 2 24432067 24432067 single base substitution C G upstream_gene_variant BLCA-CN 2 24484563 24484563 single base substitution G A stop_gained Q775* 2323C>T BLCA-CN 2 24484563 24484563 single base substitution G A stop_gained Q802* 2404C>T BLCA-CN 2 24533563 24533563 single base substitution T C downstream_gene_variant BLCA-CN 2 24533563 24533563 single base substitution T C splice_acceptor_variant BLCA-CN 2 24536336 24536336 single base substitution C A exon_variant BLCA-CN 2 24536336 24536336 single base substitution C A stop_gained E47* 139G>T BLCA-CN 2 24536336 24536336 single base substitution C A stop_gained E61* 181G>T BLCA-US 2 24483991 24483991 single base substitution G A missense_variant S862L 2585C>T BLCA-US 2 24483991 24483991 single base substitution G A missense_variant S889L 2666C>T BLCA-US 2 24484496 24484496 single base substitution G A missense_variant A797V 2390C>T BLCA-US 2 24484496 24484496 single base substitution G A missense_variant A824V 2471C>T BLCA-US 2 24521611 24521611 single base substitution G C missense_variant Q473E 1417C>G BLCA-US 2 24521611 24521611 single base substitution G C missense_variant Q498E 1492C>G BLCA-US 2 24521611 24521611 single base substitution G C upstream_gene_variant BLCA-US 2 24521660 24521660 single base substitution T C synonymous_variant R456R 1368A>G BLCA-US 2 24521660 24521660 single base substitution T C synonymous_variant R481R 1443A>G BLCA-US 2 24521660 24521660 single base substitution T C upstream_gene_variant BLCA-US 2 24522785 24522785 single base substitution C G missense_variant R446T 1337G>C BLCA-US 2 24522785 24522785 single base substitution C G missense_variant R471T 1412G>C BLCA-US 2 24522785 24522785 single base substitution C G upstream_gene_variant BLCA-US 2 24522905 24522905 single base substitution C T missense_variant R406Q 1217G>A BLCA-US 2 24522905 24522905 single base substitution C T missense_variant R431Q 1292G>A BLCA-US 2 24522905 24522905 single base substitution C T upstream_gene_variant BLCA-US 2 24522915 24522915 single base substitution C T missense_variant E403K 1207G>A BLCA-US 2 24522915 24522915 single base substitution C T missense_variant E428K 1282G>A BLCA-US 2 24522915 24522915 single base substitution C T upstream_gene_variant BLCA-US 2 24523032 24523032 single base substitution C G missense_variant E364Q 1090G>C BLCA-US 2 24523032 24523032 single base substitution C G missense_variant E389Q 1165G>C BLCA-US 2 24523032 24523032 single base substitution C G upstream_gene_variant BLCA-US 2 24524067 24524067 single base substitution G A missense_variant S346L 1037C>T BLCA-US 2 24524067 24524067 single base substitution G A missense_variant S371L 1112C>T BLCA-US 2 24535188 24535188 single base substitution G A exon_variant BLCA-US 2 24535188 24535188 single base substitution G A missense_variant A68V 203C>T BLCA-US 2 24535188 24535188 single base substitution G A missense_variant A82V 245C>T BLCA-US 2 24535214 24535214 single base substitution C G exon_variant BLCA-US 2 24535214 24535214 single base substitution C G missense_variant K59N 177G>C BLCA-US 2 24535214 24535214 single base substitution C G missense_variant K73N 219G>C BLCA-US 2 24538094 24538094 single base substitution C T splice_acceptor_variant BOCA-FR 2 24439089 24439089 single base substitution C A downstream_gene_variant BOCA-FR 2 24439089 24439089 single base substitution C A synonymous_variant V1246V 3738G>T BOCA-FR 2 24439089 24439089 single base substitution C A synonymous_variant V1273V 3819G>T BRCA-EU 2 24422340 24422340 single base substitution C G downstream_gene_variant BRCA-EU 2 24422623 24422623 single base substitution G C downstream_gene_variant BRCA-EU 2 24423441 24423441 single base substitution G A downstream_gene_variant BRCA-EU 2 24424920 24424920 single base substitution A G downstream_gene_variant BRCA-EU 2 24429726 24429726 single base substitution G T intron_variant BRCA-EU 2 24429726 24429726 single base substitution G T upstream_gene_variant BRCA-EU 2 24430859 24430859 deletion of <=200bp G - intron_variant BRCA-EU 2 24430859 24430859 deletion of <=200bp G - upstream_gene_variant BRCA-EU 2 24434796 24434796 single base substitution G A intron_variant BRCA-EU 2 24434796 24434796 single base substitution G A upstream_gene_variant BRCA-EU 2 24434894 24434894 single base substitution G T intron_variant BRCA-EU 2 24434894 24434894 single base substitution G T upstream_gene_variant BRCA-EU 2 24435300 24435300 single base substitution T A intron_variant BRCA-EU 2 24435300 24435300 single base substitution T A upstream_gene_variant BRCA-EU 2 24435708 24435711 deletion of <=200bp TTTA - intron_variant BRCA-EU 2 24435708 24435711 deletion of <=200bp TTTA - upstream_gene_variant BRCA-EU 2 24436176 24436176 single base substitution C A intron_variant BRCA-EU 2 24436176 24436176 single base substitution C A upstream_gene_variant BRCA-EU 2 24438017 24438017 single base substitution C T intron_variant BRCA-EU 2 24438017 24438017 single base substitution C T upstream_gene_variant BRCA-EU 2 24438681 24438681 insertion of <=200bp - A downstream_gene_variant BRCA-EU 2 24438681 24438681 insertion of <=200bp - A intron_variant BRCA-EU 2 24440869 24440869 single base substitution C T downstream_gene_variant BRCA-EU 2 24440869 24440869 single base substitution C T missense_variant R1211H 3632G>A BRCA-EU 2 24440869 24440869 single base substitution C T missense_variant R1238H 3713G>A BRCA-EU 2 24440874 24440874 single base substitution C T downstream_gene_variant BRCA-EU 2 24440874 24440874 single base substitution C T synonymous_variant Q1209Q 3627G>A BRCA-EU 2 24440874 24440874 single base substitution C T synonymous_variant Q1236Q 3708G>A BRCA-EU 2 24441701 24441701 single base substitution T C downstream_gene_variant BRCA-EU 2 24441701 24441701 single base substitution T C intron_variant BRCA-EU 2 24442401 24442401 single base substitution C A downstream_gene_variant BRCA-EU 2 24442401 24442401 single base substitution C A intron_variant BRCA-EU 2 24442872 24442872 single base substitution A G downstream_gene_variant BRCA-EU 2 24442872 24442872 single base substitution A G intron_variant BRCA-EU 2 24442961 24442961 single base substitution G A downstream_gene_variant BRCA-EU 2 24442961 24442961 single base substitution G A intron_variant BRCA-EU 2 24443019 24443019 single base substitution G A downstream_gene_variant BRCA-EU 2 24443019 24443019 single base substitution G A intron_variant BRCA-EU 2 24443569 24443569 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 24443569 24443569 single base substitution G A intron_variant BRCA-EU 2 24445073 24445073 single base substitution A C intron_variant BRCA-EU 2 24445075 24445075 single base substitution C G intron_variant BRCA-EU 2 24445077 24445077 single base substitution C A intron_variant BRCA-EU 2 24445078 24445078 single base substitution A G intron_variant BRCA-EU 2 24445947 24445947 single base substitution G C intron_variant BRCA-EU 2 24447121 24447121 single base substitution C G intron_variant BRCA-EU 2 24450251 24450251 single base substitution C G intron_variant BRCA-EU 2 24450261 24450261 single base substitution C G intron_variant BRCA-EU 2 24451772 24451772 single base substitution G C intron_variant BRCA-EU 2 24452014 24452014 insertion of <=200bp - A intron_variant BRCA-EU 2 24452609 24452609 single base substitution C A intron_variant BRCA-EU 2 24453283 24453283 single base substitution C G intron_variant BRCA-EU 2 24453345 24453345 single base substitution T C intron_variant BRCA-EU 2 24453466 24453466 single base substitution G A intron_variant BRCA-EU 2 24453811 24453811 single base substitution C T intron_variant BRCA-EU 2 24453812 24453812 single base substitution G A intron_variant BRCA-EU 2 24454955 24454955 single base substitution A G intron_variant BRCA-EU 2 24458548 24458551 deletion of <=200bp AAAT - downstream_gene_variant BRCA-EU 2 24458548 24458551 deletion of <=200bp AAAT - intron_variant BRCA-EU 2 24463662 24463662 single base substitution T C 3_prime_UTR_variant BRCA-EU 2 24463662 24463662 single base substitution T C intron_variant BRCA-EU 2 24463780 24463780 single base substitution T A 3_prime_UTR_variant BRCA-EU 2 24463780 24463780 single base substitution T A intron_variant BRCA-EU 2 24464312 24464312 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 24464312 24464312 single base substitution C T intron_variant BRCA-EU 2 24465011 24465011 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 24465011 24465011 single base substitution G A intron_variant BRCA-EU 2 24466946 24466946 single base substitution A C intron_variant BRCA-EU 2 24467223 24467223 deletion of <=200bp G - intron_variant BRCA-EU 2 24467303 24467303 single base substitution C G intron_variant BRCA-EU 2 24467339 24467339 single base substitution A C intron_variant BRCA-EU 2 24468641 24468641 single base substitution G T intron_variant BRCA-EU 2 24468749 24468749 single base substitution C G intron_variant BRCA-EU 2 24469839 24469839 single base substitution A G intron_variant BRCA-EU 2 24470532 24470532 single base substitution C T intron_variant BRCA-EU 2 24471031 24471031 single base substitution A G intron_variant BRCA-EU 2 24471580 24471580 single base substitution G A missense_variant S1042F 3125C>T BRCA-EU 2 24471580 24471580 single base substitution G A missense_variant S1069F 3206C>T BRCA-EU 2 24471580 24471580 single base substitution G A upstream_gene_variant BRCA-EU 2 24474599 24474599 single base substitution G A intron_variant BRCA-EU 2 24474599 24474599 single base substitution G A upstream_gene_variant BRCA-EU 2 24475534 24475534 single base substitution A T intron_variant BRCA-EU 2 24475534 24475534 single base substitution A T upstream_gene_variant BRCA-EU 2 24477036 24477036 single base substitution T A intron_variant BRCA-EU 2 24480559 24480559 single base substitution C G intron_variant BRCA-EU 2 24480769 24480769 single base substitution A C missense_variant V932G 2795T>G BRCA-EU 2 24480769 24480769 single base substitution A C missense_variant V959G 2876T>G BRCA-EU 2 24483260 24483260 single base substitution T C intron_variant BRCA-EU 2 24485918 24485918 single base substitution C G intron_variant BRCA-EU 2 24486192 24486192 single base substitution T C intron_variant BRCA-EU 2 24487463 24487463 deletion of <=200bp T - intron_variant BRCA-EU 2 24488096 24488096 single base substitution C A intron_variant BRCA-EU 2 24488366 24488366 single base substitution C G intron_variant BRCA-EU 2 24488928 24488928 single base substitution T C intron_variant BRCA-EU 2 24489844 24489844 single base substitution G C intron_variant BRCA-EU 2 24490591 24490591 insertion of <=200bp - T intron_variant BRCA-EU 2 24492114 24492114 single base substitution G C intron_variant BRCA-EU 2 24492573 24492573 single base substitution G A intron_variant BRCA-EU 2 24492709 24492709 single base substitution G A intron_variant BRCA-EU 2 24493704 24493704 single base substitution G C intron_variant BRCA-EU 2 24494570 24494570 single base substitution C T intron_variant BRCA-EU 2 24494857 24494857 single base substitution T A intron_variant BRCA-EU 2 24494914 24494914 single base substitution G A intron_variant BRCA-EU 2 24496262 24496262 single base substitution C G intron_variant BRCA-EU 2 24496425 24496425 deletion of <=200bp T - intron_variant BRCA-EU 2 24496846 24496846 single base substitution G C intron_variant BRCA-EU 2 24499501 24499501 single base substitution C A intron_variant BRCA-EU 2 24499970 24499970 single base substitution C G intron_variant BRCA-EU 2 24502355 24502355 single base substitution G A intron_variant BRCA-EU 2 24504395 24504395 single base substitution C G downstream_gene_variant BRCA-EU 2 24504395 24504395 single base substitution C G intron_variant BRCA-EU 2 24506237 24506237 single base substitution G A downstream_gene_variant BRCA-EU 2 24506237 24506237 single base substitution G A intron_variant BRCA-EU 2 24508811 24508811 single base substitution A C downstream_gene_variant BRCA-EU 2 24508811 24508811 single base substitution A C intron_variant BRCA-EU 2 24509013 24509013 single base substitution C A downstream_gene_variant BRCA-EU 2 24509013 24509013 single base substitution C A intron_variant BRCA-EU 2 24510465 24510465 deletion of <=200bp T - intron_variant BRCA-EU 2 24512658 24512658 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 24512658 24512658 deletion of <=200bp T - intron_variant BRCA-EU 2 24513597 24513597 single base substitution C T downstream_gene_variant BRCA-EU 2 24513597 24513597 single base substitution C T intron_variant BRCA-EU 2 24513897 24513897 single base substitution A G downstream_gene_variant BRCA-EU 2 24513897 24513897 single base substitution A G intron_variant BRCA-EU 2 24513971 24513971 single base substitution A G downstream_gene_variant BRCA-EU 2 24513971 24513971 single base substitution A G intron_variant BRCA-EU 2 24514029 24514029 single base substitution C T downstream_gene_variant BRCA-EU 2 24514029 24514029 single base substitution C T intron_variant BRCA-EU 2 24514194 24514194 single base substitution C T downstream_gene_variant BRCA-EU 2 24514194 24514194 single base substitution C T intron_variant BRCA-EU 2 24514863 24514863 single base substitution C G downstream_gene_variant BRCA-EU 2 24514863 24514863 single base substitution C G intron_variant BRCA-EU 2 24515429 24515429 single base substitution C G downstream_gene_variant BRCA-EU 2 24515429 24515429 single base substitution C G intron_variant BRCA-EU 2 24516230 24516230 single base substitution T A exon_variant BRCA-EU 2 24516230 24516230 single base substitution T A intron_variant BRCA-EU 2 24518669 24518669 single base substitution C G missense_variant G500A 1499G>C BRCA-EU 2 24518669 24518669 single base substitution C G missense_variant G525A 1574G>C BRCA-EU 2 24518669 24518669 single base substitution C G upstream_gene_variant BRCA-EU 2 24519921 24519921 single base substitution A T intron_variant BRCA-EU 2 24519921 24519921 single base substitution A T upstream_gene_variant BRCA-EU 2 24520429 24520429 single base substitution A G intron_variant BRCA-EU 2 24520429 24520429 single base substitution A G upstream_gene_variant BRCA-EU 2 24521765 24521765 single base substitution T G intron_variant BRCA-EU 2 24521765 24521765 single base substitution T G upstream_gene_variant BRCA-EU 2 24522505 24522505 single base substitution A G intron_variant BRCA-EU 2 24522505 24522505 single base substitution A G upstream_gene_variant BRCA-EU 2 24522898 24522898 single base substitution C T synonymous_variant Q408Q 1224G>A BRCA-EU 2 24522898 24522898 single base substitution C T synonymous_variant Q433Q 1299G>A BRCA-EU 2 24522898 24522898 single base substitution C T upstream_gene_variant BRCA-EU 2 24523312 24523312 single base substitution T G intron_variant BRCA-EU 2 24523312 24523312 single base substitution T G upstream_gene_variant BRCA-EU 2 24523923 24523923 single base substitution C G intron_variant BRCA-EU 2 24524820 24524820 single base substitution C G intron_variant BRCA-EU 2 24525055 24525055 insertion of <=200bp - TTTA intron_variant BRCA-EU 2 24525302 24525302 single base substitution C T intron_variant BRCA-EU 2 24525452 24525452 single base substitution G A intron_variant BRCA-EU 2 24527284 24527284 single base substitution G A intron_variant BRCA-EU 2 24528301 24528301 single base substitution C A downstream_gene_variant BRCA-EU 2 24528301 24528301 single base substitution C A intron_variant BRCA-EU 2 24529096 24529096 single base substitution G A downstream_gene_variant BRCA-EU 2 24529096 24529096 single base substitution G A intron_variant BRCA-EU 2 24529978 24529978 single base substitution T C downstream_gene_variant BRCA-EU 2 24529978 24529978 single base substitution T C intron_variant BRCA-EU 2 24531502 24531502 single base substitution C T downstream_gene_variant BRCA-EU 2 24531502 24531502 single base substitution C T missense_variant M259I 777G>A BRCA-EU 2 24531502 24531502 single base substitution C T missense_variant M284I 852G>A BRCA-EU 2 24532887 24532887 single base substitution C T downstream_gene_variant BRCA-EU 2 24532887 24532887 single base substitution C T intron_variant BRCA-EU 2 24533292 24533292 single base substitution C G downstream_gene_variant BRCA-EU 2 24533292 24533292 single base substitution C G intron_variant BRCA-EU 2 24534042 24534062 deletion of <=200bp TGCATTATTTGCAAGAAAGTG - downstream_gene_variant BRCA-EU 2 24534042 24534062 deletion of <=200bp TGCATTATTTGCAAGAAAGTG - intron_variant BRCA-EU 2 24534764 24534764 single base substitution C A intron_variant BRCA-EU 2 24534951 24534951 single base substitution C G intron_variant BRCA-EU 2 24535145 24535145 single base substitution A G exon_variant BRCA-EU 2 24535145 24535145 single base substitution A G synonymous_variant P82P 246T>C BRCA-EU 2 24535145 24535145 single base substitution A G synonymous_variant P96P 288T>C BRCA-EU 2 24535440 24535447 deletion of <=200bp ATAATAAC - intron_variant BRCA-EU 2 24536369 24536369 single base substitution G A exon_variant BRCA-EU 2 24536369 24536369 single base substitution G A synonymous_variant L36L 106C>T BRCA-EU 2 24536369 24536369 single base substitution G A synonymous_variant L50L 148C>T BRCA-EU 2 24537668 24537668 deletion of <=200bp A - intron_variant BRCA-EU 2 24538058 24538058 single base substitution G A exon_variant BRCA-EU 2 24538058 24538058 single base substitution G A missense_variant R23C 67C>T BRCA-EU 2 24538058 24538058 single base substitution G A missense_variant R9C 25C>T BRCA-EU 2 24538835 24538857 deletion of <=200bp ATTCTGAGTTAGAAGCACCAAGG - intron_variant BRCA-EU 2 24539728 24539728 single base substitution G A intron_variant BRCA-EU 2 24542900 24542900 single base substitution A G intron_variant BRCA-EU 2 24543644 24543644 single base substitution G C intron_variant BRCA-EU 2 24543974 24543974 single base substitution G A intron_variant BRCA-EU 2 24545255 24545255 single base substitution T G intron_variant BRCA-EU 2 24545434 24545434 single base substitution C A intron_variant BRCA-EU 2 24548012 24548012 single base substitution C T intron_variant BRCA-EU 2 24548190 24548190 single base substitution G C intron_variant BRCA-EU 2 24548230 24548230 single base substitution G A intron_variant BRCA-EU 2 24549062 24549062 deletion of <=200bp A - intron_variant BRCA-EU 2 24549658 24549658 single base substitution C G intron_variant BRCA-EU 2 24550364 24550364 single base substitution C T intron_variant BRCA-EU 2 24550796 24550796 insertion of <=200bp - A intron_variant BRCA-EU 2 24551611 24551611 single base substitution C T intron_variant BRCA-EU 2 24553126 24553126 single base substitution A G intron_variant BRCA-EU 2 24553844 24553844 single base substitution C A intron_variant BRCA-EU 2 24554695 24554695 single base substitution C T intron_variant BRCA-EU 2 24554871 24554871 single base substitution G C intron_variant BRCA-EU 2 24555111 24555111 single base substitution C G intron_variant BRCA-EU 2 24556365 24556365 single base substitution G A intron_variant BRCA-EU 2 24556810 24556810 single base substitution G C intron_variant BRCA-EU 2 24557792 24557792 single base substitution C T intron_variant BRCA-EU 2 24558527 24558527 single base substitution G C intron_variant BRCA-EU 2 24560769 24560769 single base substitution G A intron_variant BRCA-EU 2 24562921 24562921 deletion of <=200bp A - intron_variant BRCA-EU 2 24563621 24563621 insertion of <=200bp - AC intron_variant BRCA-EU 2 24565058 24565058 insertion of <=200bp - T intron_variant BRCA-EU 2 24567681 24567681 single base substitution C T intron_variant BRCA-EU 2 24567849 24567849 single base substitution C T intron_variant BRCA-EU 2 24568925 24568925 single base substitution G A intron_variant BRCA-EU 2 24569890 24569890 single base substitution C T intron_variant BRCA-EU 2 24571271 24571288 deletion of <=200bp CTGGTCTCGAACTCCTGA - intron_variant BRCA-EU 2 24571592 24571610 deletion of <=200bp ATCTGTGATTGGTAGTTTC - intron_variant BRCA-EU 2 24571906 24571906 single base substitution C G intron_variant BRCA-EU 2 24572264 24572264 single base substitution G C intron_variant BRCA-EU 2 24572405 24572405 single base substitution C A intron_variant BRCA-EU 2 24573355 24573355 single base substitution A G intron_variant BRCA-EU 2 24575732 24575732 single base substitution A C intron_variant BRCA-EU 2 24576974 24576974 single base substitution C T intron_variant BRCA-EU 2 24577385 24577385 insertion of <=200bp - A intron_variant BRCA-EU 2 24579152 24579152 single base substitution T C intron_variant BRCA-EU 2 24580346 24580346 single base substitution G T intron_variant BRCA-EU 2 24580886 24580886 single base substitution G A intron_variant BRCA-EU 2 24582060 24582060 single base substitution C G intron_variant BRCA-EU 2 24582819 24582819 single base substitution G A intron_variant BRCA-EU 2 24584205 24584205 single base substitution G A upstream_gene_variant BRCA-EU 2 24584886 24584886 single base substitution G A upstream_gene_variant BRCA-EU 2 24587828 24587828 single base substitution C A upstream_gene_variant BRCA-EU 2 24588121 24588121 single base substitution G T upstream_gene_variant BRCA-FR 2 24422623 24422623 single base substitution G C downstream_gene_variant BRCA-FR 2 24434796 24434796 single base substitution G A intron_variant BRCA-FR 2 24434796 24434796 single base substitution G A upstream_gene_variant BRCA-FR 2 24440874 24440874 single base substitution C T downstream_gene_variant BRCA-FR 2 24440874 24440874 single base substitution C T synonymous_variant Q1209Q 3627G>A BRCA-FR 2 24440874 24440874 single base substitution C T synonymous_variant Q1236Q 3708G>A BRCA-FR 2 24454955 24454955 single base substitution A G intron_variant BRCA-FR 2 24467303 24467303 single base substitution C G intron_variant BRCA-FR 2 24468749 24468749 single base substitution C G intron_variant BRCA-FR 2 24470532 24470532 single base substitution C T intron_variant BRCA-FR 2 24489844 24489844 single base substitution G C intron_variant BRCA-FR 2 24492114 24492114 single base substitution G C intron_variant BRCA-FR 2 24492709 24492709 single base substitution G A intron_variant BRCA-FR 2 24492894 24492894 single base substitution T A intron_variant BRCA-FR 2 24493704 24493704 single base substitution G C intron_variant BRCA-FR 2 24494914 24494914 single base substitution G A intron_variant BRCA-FR 2 24509013 24509013 single base substitution C A downstream_gene_variant BRCA-FR 2 24509013 24509013 single base substitution C A intron_variant BRCA-FR 2 24513971 24513971 single base substitution A G downstream_gene_variant BRCA-FR 2 24513971 24513971 single base substitution A G intron_variant BRCA-FR 2 24514029 24514029 single base substitution C T downstream_gene_variant BRCA-FR 2 24514029 24514029 single base substitution C T intron_variant BRCA-FR 2 24514194 24514194 single base substitution C T downstream_gene_variant BRCA-FR 2 24514194 24514194 single base substitution C T intron_variant BRCA-FR 2 24514863 24514863 single base substitution C G downstream_gene_variant BRCA-FR 2 24514863 24514863 single base substitution C G intron_variant BRCA-FR 2 24515429 24515429 single base substitution C G downstream_gene_variant BRCA-FR 2 24515429 24515429 single base substitution C G intron_variant BRCA-FR 2 24539728 24539728 single base substitution G A intron_variant BRCA-FR 2 24549658 24549658 single base substitution C G intron_variant BRCA-FR 2 24550364 24550364 single base substitution C T intron_variant BRCA-FR 2 24567681 24567681 single base substitution C T intron_variant BRCA-FR 2 24568925 24568925 single base substitution G A intron_variant BRCA-FR 2 24579152 24579152 single base substitution T C intron_variant BRCA-FR 2 24584886 24584886 single base substitution G A upstream_gene_variant BRCA-UK 2 24427122 24427122 single base substitution G A 3_prime_UTR_variant BRCA-UK 2 24427122 24427122 single base substitution G A downstream_gene_variant BRCA-UK 2 24427122 24427122 single base substitution G A exon_variant BRCA-UK 2 24427122 24427122 single base substitution G A missense_variant S1616L 4847C>T BRCA-UK 2 24427122 24427122 single base substitution G A missense_variant S1643L 4928C>T BRCA-UK 2 24480922 24480922 single base substitution G A missense_variant S881F 2642C>T BRCA-UK 2 24480922 24480922 single base substitution G A missense_variant S908F 2723C>T BRCA-UK 2 24485904 24485904 single base substitution C T intron_variant BRCA-UK 2 24523923 24523923 single base substitution C G intron_variant BRCA-UK 2 24543644 24543644 single base substitution G C intron_variant BRCA-UK 2 24544517 24544517 single base substitution C G intron_variant BRCA-US 2 24427247 24427247 single base substitution C G 3_prime_UTR_variant BRCA-US 2 24427247 24427247 single base substitution C G downstream_gene_variant BRCA-US 2 24427247 24427247 single base substitution C G exon_variant BRCA-US 2 24427247 24427247 single base substitution C G missense_variant Q1574H 4722G>C BRCA-US 2 24427247 24427247 single base substitution C G missense_variant Q1601H 4803G>C BRCA-US 2 24432862 24432862 single base substitution C T exon_variant BRCA-US 2 24432862 24432862 single base substitution C T missense_variant R1406Q 4217G>A BRCA-US 2 24432862 24432862 single base substitution C T missense_variant R1433Q 4298G>A BRCA-US 2 24432862 24432862 single base substitution C T upstream_gene_variant BRCA-US 2 24433779 24433779 single base substitution G T missense_variant S1349Y 4046C>A BRCA-US 2 24433779 24433779 single base substitution G T missense_variant S1376Y 4127C>A BRCA-US 2 24433779 24433779 single base substitution G T upstream_gene_variant BRCA-US 2 24469072 24469072 deletion of <=200bp T - frameshift_variant E1141 BRCA-US 2 24469072 24469072 deletion of <=200bp T - frameshift_variant E1168 BRCA-US 2 24469072 24469072 deletion of <=200bp T - frameshift_variant E95 BRCA-US 2 24475287 24475287 single base substitution T A missense_variant E1016V 3047A>T BRCA-US 2 24475287 24475287 single base substitution T A missense_variant E989V 2966A>T BRCA-US 2 24475287 24475287 single base substitution T A upstream_gene_variant BRCA-US 2 24475288 24475288 single base substitution C A stop_gained E1016* 3046G>T BRCA-US 2 24475288 24475288 single base substitution C A stop_gained E989* 2965G>T BRCA-US 2 24475288 24475288 single base substitution C A upstream_gene_variant BRCA-US 2 24484451 24484451 single base substitution G C missense_variant S812C 2435C>G BRCA-US 2 24484451 24484451 single base substitution G C missense_variant S839C 2516C>G BRCA-US 2 24484608 24484608 single base substitution C T missense_variant D760N 2278G>A BRCA-US 2 24484608 24484608 single base substitution C T missense_variant D787N 2359G>A BRCA-US 2 24494689 24494689 single base substitution C G missense_variant A708P 2122G>C BRCA-US 2 24494689 24494689 single base substitution C G missense_variant A735P 2203G>C BRCA-US 2 24494778 24494778 insertion of <=200bp - A frameshift_variant K678N? BRCA-US 2 24494778 24494778 insertion of <=200bp - A frameshift_variant K705N? BRCA-US 2 24494798 24494798 insertion of <=200bp - C frameshift_variant Q671Q? BRCA-US 2 24494798 24494798 insertion of <=200bp - C frameshift_variant Q698Q? BRCA-US 2 24531572 24531572 single base substitution G A downstream_gene_variant BRCA-US 2 24531572 24531572 single base substitution G A missense_variant S236L 707C>T BRCA-US 2 24531572 24531572 single base substitution G A missense_variant S261L 782C>T BRCA-US 2 24531579 24531579 single base substitution C A downstream_gene_variant BRCA-US 2 24531579 24531579 single base substitution C A missense_variant G234W 700G>T BRCA-US 2 24531579 24531579 single base substitution C A missense_variant G259W 775G>T BRCA-US 2 24535095 24535095 single base substitution A T exon_variant BRCA-US 2 24535095 24535095 single base substitution A T missense_variant I113N 338T>A BRCA-US 2 24535095 24535095 single base substitution A T missense_variant I99N 296T>A BRCA-US 2 24535098 24535098 single base substitution A G exon_variant BRCA-US 2 24535098 24535098 single base substitution A G missense_variant L112S 335T>C BRCA-US 2 24535098 24535098 single base substitution A G missense_variant L98S 293T>C BTCA-JP 2 24431292 24431292 single base substitution C G intron_variant BTCA-JP 2 24431292 24431292 single base substitution C G upstream_gene_variant BTCA-JP 2 24431990 24431990 single base substitution C T exon_variant BTCA-JP 2 24431990 24431990 single base substitution C T intron_variant BTCA-JP 2 24431990 24431990 single base substitution C T missense_variant R1498Q 4493G>A BTCA-JP 2 24431990 24431990 single base substitution C T missense_variant R1525Q 4574G>A BTCA-JP 2 24431990 24431990 single base substitution C T upstream_gene_variant BTCA-JP 2 24475309 24475309 single base substitution A G synonymous_variant L1009L 3025T>C BTCA-JP 2 24475309 24475309 single base substitution A G synonymous_variant L982L 2944T>C BTCA-JP 2 24475309 24475309 single base substitution A G upstream_gene_variant BTCA-JP 2 24477286 24477286 single base substitution T C missense_variant Y941C 2822A>G BTCA-JP 2 24477286 24477286 single base substitution T C missense_variant Y968C 2903A>G BTCA-JP 2 24493518 24493518 deletion of <=200bp A - intron_variant BTCA-JP 2 24524683 24524683 single base substitution C G intron_variant BTCA-JP 2 24533193 24533193 single base substitution T A downstream_gene_variant BTCA-JP 2 24533193 24533193 single base substitution T A missense_variant I205L 613A>T CESC-US 2 24439053 24439053 single base substitution C T downstream_gene_variant CESC-US 2 24439053 24439053 single base substitution C T synonymous_variant Q1258Q 3774G>A CESC-US 2 24439053 24439053 single base substitution C T synonymous_variant Q1285Q 3855G>A CESC-US 2 24443894 24443894 single base substitution C G missense_variant E1180Q 3538G>C CESC-US 2 24443894 24443894 single base substitution C G missense_variant E1207Q 3619G>C CESC-US 2 24469689 24469689 single base substitution C G missense_variant R1094T 3281G>C CESC-US 2 24469689 24469689 single base substitution C G missense_variant R1121T 3362G>C CESC-US 2 24469689 24469689 single base substitution C G missense_variant R48T 143G>C CESC-US 2 24471720 24471720 single base substitution G A missense_variant S1024L 3071C>T CESC-US 2 24471720 24471720 single base substitution G A missense_variant S1051L 3152C>T CESC-US 2 24471720 24471720 single base substitution G A upstream_gene_variant CESC-US 2 24498643 24498643 single base substitution C T missense_variant E647K 1939G>A CESC-US 2 24498643 24498643 single base substitution C T missense_variant E674K 2020G>A CESC-US 2 24509100 24509100 single base substitution G T downstream_gene_variant CESC-US 2 24509100 24509100 single base substitution G T missense_variant S615Y 1844C>A CESC-US 2 24518561 24518561 single base substitution T A exon_variant CESC-US 2 24518561 24518561 single base substitution T A missense_variant E536V 1607A>T CESC-US 2 24518561 24518561 single base substitution T A missense_variant E561V 1682A>T CESC-US 2 24521654 24521654 single base substitution A G synonymous_variant R458R 1374T>C CESC-US 2 24521654 24521654 single base substitution A G synonymous_variant R483R 1449T>C CESC-US 2 24521654 24521654 single base substitution A G upstream_gene_variant CLLE-ES 2 24459704 24459704 single base substitution G T downstream_gene_variant CLLE-ES 2 24459704 24459704 single base substitution G T intron_variant CLLE-ES 2 24466320 24466320 single base substitution G A intron_variant CLLE-ES 2 24472042 24472042 single base substitution T C intron_variant CLLE-ES 2 24472042 24472042 single base substitution T C upstream_gene_variant CLLE-ES 2 24487948 24487948 single base substitution C A intron_variant CLLE-ES 2 24513499 24513499 single base substitution G C downstream_gene_variant CLLE-ES 2 24513499 24513499 single base substitution G C intron_variant CLLE-ES 2 24528446 24528446 single base substitution A C downstream_gene_variant CLLE-ES 2 24528446 24528446 single base substitution A C intron_variant CLLE-ES 2 24540707 24540707 single base substitution T C intron_variant CLLE-ES 2 24543621 24543621 single base substitution A G intron_variant CLLE-ES 2 24561111 24561111 deletion of <=200bp G - intron_variant COAD-US 2 24428099 24428099 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 2 24428099 24428099 deletion of <=200bp T - downstream_gene_variant COAD-US 2 24428099 24428099 deletion of <=200bp T - exon_variant COAD-US 2 24428099 24428099 deletion of <=200bp T - frameshift_variant K1555 COAD-US 2 24428099 24428099 deletion of <=200bp T - frameshift_variant K1582 COAD-US 2 24431127 24431127 single base substitution T G 3_prime_UTR_variant COAD-US 2 24431127 24431127 single base substitution T G exon_variant COAD-US 2 24431127 24431127 single base substitution T G missense_variant K1526Q 4576A>C COAD-US 2 24431127 24431127 single base substitution T G missense_variant K1553Q 4657A>C COAD-US 2 24431127 24431127 single base substitution T G upstream_gene_variant COAD-US 2 24432688 24432688 single base substitution G A missense_variant T1464M 4391C>T COAD-US 2 24432688 24432688 single base substitution G A missense_variant T1491M 4472C>T COAD-US 2 24432688 24432688 single base substitution G A splice_region_variant COAD-US 2 24432688 24432688 single base substitution G A upstream_gene_variant COAD-US 2 24439048 24439048 single base substitution A G downstream_gene_variant COAD-US 2 24439048 24439048 single base substitution A G missense_variant I1260T 3779T>C COAD-US 2 24439048 24439048 single base substitution A G missense_variant I1287T 3860T>C COAD-US 2 24469034 24469034 single base substitution C T missense_variant V108I 322G>A COAD-US 2 24469034 24469034 single base substitution C T missense_variant V1154I 3460G>A COAD-US 2 24469034 24469034 single base substitution C T missense_variant V1181I 3541G>A COAD-US 2 24469746 24469746 single base substitution C T missense_variant R1075Q 3224G>A COAD-US 2 24469746 24469746 single base substitution C T missense_variant R1102Q 3305G>A COAD-US 2 24469746 24469746 single base substitution C T missense_variant R29Q 86G>A COAD-US 2 24471549 24471549 single base substitution T G missense_variant L1052F 3156A>C COAD-US 2 24471549 24471549 single base substitution T G missense_variant L1079F 3237A>C COAD-US 2 24471549 24471549 single base substitution T G missense_variant L6F 18A>C COAD-US 2 24521606 24521606 single base substitution C A missense_variant K474N 1422G>T COAD-US 2 24521606 24521606 single base substitution C A missense_variant K499N 1497G>T COAD-US 2 24521606 24521606 single base substitution C A upstream_gene_variant COAD-US 2 24521632 24521632 single base substitution G A missense_variant R466W 1396C>T COAD-US 2 24521632 24521632 single base substitution G A missense_variant R491W 1471C>T COAD-US 2 24521632 24521632 single base substitution G A upstream_gene_variant COAD-US 2 24522816 24522816 single base substitution G A stop_gained R436* 1306C>T COAD-US 2 24522816 24522816 single base substitution G A stop_gained R461* 1381C>T COAD-US 2 24522816 24522816 single base substitution G A upstream_gene_variant COAD-US 2 24522905 24522905 single base substitution C T missense_variant R406Q 1217G>A COAD-US 2 24522905 24522905 single base substitution C T missense_variant R431Q 1292G>A COAD-US 2 24522905 24522905 single base substitution C T upstream_gene_variant COAD-US 2 24524958 24524958 single base substitution C T missense_variant V291I 871G>A COAD-US 2 24524958 24524958 single base substitution C T missense_variant V316I 946G>A COAD-US 2 24526713 24526713 single base substitution G A missense_variant A271V 812C>T COAD-US 2 24526713 24526713 single base substitution G A missense_variant A296V 887C>T COCA-CN 2 24427472 24427472 single base substitution G A downstream_gene_variant COCA-CN 2 24427472 24427472 single base substitution G A intron_variant COCA-CN 2 24431193 24431193 single base substitution G A splice_region_variant COCA-CN 2 24431193 24431193 single base substitution G A upstream_gene_variant COCA-CN 2 24433673 24433673 single base substitution G A synonymous_variant H1384H 4152C>T COCA-CN 2 24433673 24433673 single base substitution G A synonymous_variant H1411H 4233C>T COCA-CN 2 24433673 24433673 single base substitution G A upstream_gene_variant COCA-CN 2 24433759 24433759 single base substitution C T missense_variant E1356K 4066G>A COCA-CN 2 24433759 24433759 single base substitution C T missense_variant E1383K 4147G>A COCA-CN 2 24433759 24433759 single base substitution C T upstream_gene_variant COCA-CN 2 24471659 24471659 single base substitution A G intron_variant COCA-CN 2 24471659 24471659 single base substitution A G upstream_gene_variant COCA-CN 2 24477310 24477310 single base substitution A G intron_variant COCA-CN 2 24484559 24484559 single base substitution C A missense_variant G776V 2327G>T COCA-CN 2 24484559 24484559 single base substitution C A missense_variant G803V 2408G>T COCA-CN 2 24494695 24494695 single base substitution G A missense_variant R706W 2116C>T COCA-CN 2 24494695 24494695 single base substitution G A missense_variant R733W 2197C>T COCA-CN 2 24509261 24509261 single base substitution T G intron_variant COCA-CN 2 24509370 24509370 single base substitution T C intron_variant COCA-CN 2 24518666 24518666 single base substitution T G missense_variant K501T 1502A>C COCA-CN 2 24518666 24518666 single base substitution T G missense_variant K526T 1577A>C COCA-CN 2 24518666 24518666 single base substitution T G upstream_gene_variant COCA-CN 2 24521613 24521613 single base substitution T C missense_variant N472S 1415A>G COCA-CN 2 24521613 24521613 single base substitution T C missense_variant N497S 1490A>G COCA-CN 2 24521613 24521613 single base substitution T C upstream_gene_variant COCA-CN 2 24522741 24522741 single base substitution A G intron_variant COCA-CN 2 24522741 24522741 single base substitution A G upstream_gene_variant COCA-CN 2 24522946 24522946 single base substitution C T synonymous_variant E392E 1176G>A COCA-CN 2 24522946 24522946 single base substitution C T synonymous_variant E417E 1251G>A COCA-CN 2 24522946 24522946 single base substitution C T upstream_gene_variant COCA-CN 2 24526763 24526763 single base substitution C A intron_variant COCA-CN 2 24550868 24550868 single base substitution A C intron_variant EOPC-DE 2 24446583 24446583 single base substitution C A intron_variant EOPC-DE 2 24484532 24484532 single base substitution T C missense_variant Y785C 2354A>G EOPC-DE 2 24484532 24484532 single base substitution T C missense_variant Y812C 2435A>G EOPC-DE 2 24503608 24503608 single base substitution C A intron_variant ESAD-UK 2 24422766 24422766 single base substitution C G downstream_gene_variant ESAD-UK 2 24423284 24423284 single base substitution A T downstream_gene_variant ESAD-UK 2 24425029 24425029 single base substitution C T downstream_gene_variant ESAD-UK 2 24425986 24425986 single base substitution A C 3_prime_UTR_variant ESAD-UK 2 24425986 24425986 single base substitution A C downstream_gene_variant ESAD-UK 2 24425986 24425986 single base substitution A C exon_variant ESAD-UK 2 24426527 24426527 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 24426527 24426527 single base substitution G A downstream_gene_variant ESAD-UK 2 24426527 24426527 single base substitution G A exon_variant ESAD-UK 2 24426527 24426527 single base substitution G A synonymous_variant L1661L 4981C>T ESAD-UK 2 24426527 24426527 single base substitution G A synonymous_variant L1688L 5062C>T ESAD-UK 2 24428412 24428412 single base substitution G A exon_variant ESAD-UK 2 24428412 24428412 single base substitution G A intron_variant ESAD-UK 2 24430769 24430769 single base substitution C T intron_variant ESAD-UK 2 24430769 24430769 single base substitution C T upstream_gene_variant ESAD-UK 2 24431601 24431601 single base substitution A G intron_variant ESAD-UK 2 24431601 24431601 single base substitution A G upstream_gene_variant ESAD-UK 2 24432347 24432347 single base substitution C T intron_variant ESAD-UK 2 24432347 24432347 single base substitution C T upstream_gene_variant ESAD-UK 2 24434486 24434486 single base substitution A G intron_variant ESAD-UK 2 24434486 24434486 single base substitution A G upstream_gene_variant ESAD-UK 2 24434787 24434787 single base substitution C A intron_variant ESAD-UK 2 24434787 24434787 single base substitution C A upstream_gene_variant ESAD-UK 2 24435472 24435472 single base substitution G A intron_variant ESAD-UK 2 24435472 24435472 single base substitution G A upstream_gene_variant ESAD-UK 2 24440377 24440377 single base substitution A G downstream_gene_variant ESAD-UK 2 24440377 24440377 single base substitution A G intron_variant ESAD-UK 2 24442492 24442492 single base substitution A G downstream_gene_variant ESAD-UK 2 24442492 24442492 single base substitution A G intron_variant ESAD-UK 2 24443009 24443009 single base substitution G A downstream_gene_variant ESAD-UK 2 24443009 24443009 single base substitution G A intron_variant ESAD-UK 2 24444045 24444045 single base substitution G A intron_variant ESAD-UK 2 24446218 24446218 single base substitution G A intron_variant ESAD-UK 2 24447333 24447333 single base substitution A G intron_variant ESAD-UK 2 24448036 24448036 single base substitution C T intron_variant ESAD-UK 2 24455720 24455720 single base substitution C T intron_variant ESAD-UK 2 24459379 24459379 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 24459379 24459379 deletion of <=200bp A - intron_variant ESAD-UK 2 24459735 24459735 single base substitution T A downstream_gene_variant ESAD-UK 2 24459735 24459735 single base substitution T A intron_variant ESAD-UK 2 24462433 24462433 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 24462433 24462433 single base substitution C T intron_variant ESAD-UK 2 24465758 24465758 single base substitution C T intron_variant ESAD-UK 2 24466944 24466944 single base substitution G A intron_variant ESAD-UK 2 24472724 24472724 single base substitution C G intron_variant ESAD-UK 2 24472724 24472724 single base substitution C G upstream_gene_variant ESAD-UK 2 24473457 24473457 single base substitution G A intron_variant ESAD-UK 2 24473457 24473457 single base substitution G A upstream_gene_variant ESAD-UK 2 24476074 24476074 single base substitution T G intron_variant ESAD-UK 2 24476074 24476074 single base substitution T G upstream_gene_variant ESAD-UK 2 24478066 24478066 single base substitution A G intron_variant ESAD-UK 2 24478975 24478975 single base substitution C G intron_variant ESAD-UK 2 24480683 24480683 single base substitution C A intron_variant ESAD-UK 2 24483172 24483172 single base substitution T C intron_variant ESAD-UK 2 24483962 24483962 single base substitution A T intron_variant ESAD-UK 2 24487636 24487636 deletion of <=200bp A - intron_variant ESAD-UK 2 24488145 24488145 single base substitution T A intron_variant ESAD-UK 2 24488399 24488399 single base substitution C T intron_variant ESAD-UK 2 24491414 24491414 single base substitution T A intron_variant ESAD-UK 2 24495780 24495780 single base substitution G A intron_variant ESAD-UK 2 24496385 24496385 single base substitution A G intron_variant ESAD-UK 2 24498430 24498430 single base substitution A G intron_variant ESAD-UK 2 24498958 24498958 single base substitution C A intron_variant ESAD-UK 2 24503558 24503558 single base substitution C T intron_variant ESAD-UK 2 24503710 24503710 single base substitution C T intron_variant ESAD-UK 2 24504953 24504953 single base substitution C T downstream_gene_variant ESAD-UK 2 24504953 24504953 single base substitution C T intron_variant ESAD-UK 2 24506324 24506324 single base substitution A G downstream_gene_variant ESAD-UK 2 24506324 24506324 single base substitution A G intron_variant ESAD-UK 2 24506955 24506955 single base substitution G C downstream_gene_variant ESAD-UK 2 24506955 24506955 single base substitution G C intron_variant ESAD-UK 2 24511269 24511269 single base substitution A G downstream_gene_variant ESAD-UK 2 24511269 24511269 single base substitution A G intron_variant ESAD-UK 2 24511733 24511733 single base substitution C G downstream_gene_variant ESAD-UK 2 24511733 24511733 single base substitution C G intron_variant ESAD-UK 2 24512658 24512658 deletion of <=200bp T - downstream_gene_variant ESAD-UK 2 24512658 24512658 deletion of <=200bp T - intron_variant ESAD-UK 2 24512982 24512982 single base substitution G A downstream_gene_variant ESAD-UK 2 24512982 24512982 single base substitution G A intron_variant ESAD-UK 2 24513523 24513523 single base substitution C T downstream_gene_variant ESAD-UK 2 24513523 24513523 single base substitution C T intron_variant ESAD-UK 2 24514969 24514969 single base substitution G A downstream_gene_variant ESAD-UK 2 24514969 24514969 single base substitution G A intron_variant ESAD-UK 2 24515736 24515736 single base substitution A C downstream_gene_variant ESAD-UK 2 24515736 24515736 single base substitution A C intron_variant ESAD-UK 2 24520259 24520259 single base substitution C T intron_variant ESAD-UK 2 24520259 24520259 single base substitution C T upstream_gene_variant ESAD-UK 2 24521692 24521692 insertion of <=200bp - C intron_variant ESAD-UK 2 24521692 24521692 insertion of <=200bp - C upstream_gene_variant ESAD-UK 2 24522411 24522411 single base substitution T C intron_variant ESAD-UK 2 24522411 24522411 single base substitution T C upstream_gene_variant ESAD-UK 2 24524810 24524810 single base substitution T C intron_variant ESAD-UK 2 24526233 24526233 single base substitution C T intron_variant ESAD-UK 2 24526254 24526254 single base substitution G A intron_variant ESAD-UK 2 24526964 24526964 single base substitution T A intron_variant ESAD-UK 2 24527284 24527284 single base substitution G A intron_variant ESAD-UK 2 24527866 24527866 single base substitution C A intron_variant ESAD-UK 2 24530405 24530405 single base substitution C G downstream_gene_variant ESAD-UK 2 24530405 24530405 single base substitution C G intron_variant ESAD-UK 2 24531176 24531176 single base substitution C T downstream_gene_variant ESAD-UK 2 24531176 24531176 single base substitution C T intron_variant ESAD-UK 2 24531591 24531591 single base substitution A C downstream_gene_variant ESAD-UK 2 24531591 24531591 single base substitution A C missense_variant S230A 688T>G ESAD-UK 2 24531591 24531591 single base substitution A C missense_variant S255A 763T>G ESAD-UK 2 24534785 24534785 single base substitution G C intron_variant ESAD-UK 2 24539430 24539430 single base substitution G A intron_variant ESAD-UK 2 24541000 24541000 single base substitution C A intron_variant ESAD-UK 2 24541273 24541273 single base substitution C A intron_variant ESAD-UK 2 24541780 24541780 single base substitution T A intron_variant ESAD-UK 2 24542774 24542774 deletion of <=200bp A - intron_variant ESAD-UK 2 24543093 24543093 single base substitution A T intron_variant ESAD-UK 2 24543817 24543817 single base substitution C T intron_variant ESAD-UK 2 24545760 24545760 deletion of <=200bp A - intron_variant ESAD-UK 2 24547140 24547140 single base substitution T A intron_variant ESAD-UK 2 24547178 24547178 single base substitution C T intron_variant ESAD-UK 2 24551507 24551507 deletion of <=200bp T - intron_variant ESAD-UK 2 24551918 24551918 single base substitution C T intron_variant ESAD-UK 2 24552128 24552128 single base substitution T G intron_variant ESAD-UK 2 24552130 24552130 single base substitution T G intron_variant ESAD-UK 2 24556053 24556053 single base substitution C A intron_variant ESAD-UK 2 24556460 24556460 single base substitution C T intron_variant ESAD-UK 2 24562101 24562101 single base substitution T C intron_variant ESAD-UK 2 24563740 24563740 insertion of <=200bp - A intron_variant ESAD-UK 2 24564309 24564309 single base substitution G C intron_variant ESAD-UK 2 24564401 24564401 single base substitution C T intron_variant ESAD-UK 2 24566966 24566966 single base substitution A G intron_variant ESAD-UK 2 24572572 24572572 single base substitution T C intron_variant ESAD-UK 2 24576312 24576312 insertion of <=200bp - A intron_variant ESAD-UK 2 24579094 24579094 single base substitution C T intron_variant ESAD-UK 2 24579580 24579580 single base substitution C G intron_variant ESAD-UK 2 24579899 24579899 single base substitution A G intron_variant ESAD-UK 2 24580042 24580042 single base substitution A C intron_variant ESAD-UK 2 24580468 24580468 single base substitution A G intron_variant ESAD-UK 2 24583096 24583096 single base substitution C T intron_variant ESAD-UK 2 24586267 24586267 single base substitution C G upstream_gene_variant ESAD-UK 2 24587250 24587250 single base substitution A T upstream_gene_variant ESCA-CN 2 24426561 24426561 single base substitution C T 3_prime_UTR_variant ESCA-CN 2 24426561 24426561 single base substitution C T downstream_gene_variant ESCA-CN 2 24426561 24426561 single base substitution C T exon_variant ESCA-CN 2 24426561 24426561 single base substitution C T synonymous_variant E1649E 4947G>A ESCA-CN 2 24426561 24426561 single base substitution C T synonymous_variant E1676E 5028G>A ESCA-CN 2 24484525 24484525 single base substitution T C synonymous_variant E787E 2361A>G ESCA-CN 2 24484525 24484525 single base substitution T C synonymous_variant E814E 2442A>G ESCA-CN 2 24531732 24531732 single base substitution C T downstream_gene_variant ESCA-CN 2 24531732 24531732 single base substitution C T intron_variant ESCA-CN 2 24533244 24533244 single base substitution G A downstream_gene_variant ESCA-CN 2 24533244 24533244 single base substitution G A missense_variant P174S 520C>T ESCA-CN 2 24533244 24533244 single base substitution G A missense_variant P188S 562C>T GBM-US 2 24435600 24435600 single base substitution C T synonymous_variant P1309P 3927G>A GBM-US 2 24435600 24435600 single base substitution C T synonymous_variant P1336P 4008G>A GBM-US 2 24435600 24435600 single base substitution C T upstream_gene_variant GBM-US 2 24526701 24526701 single base substitution G A missense_variant S275L 824C>T GBM-US 2 24526701 24526701 single base substitution G A missense_variant S300L 899C>T KIRC-US 2 24435521 24435521 deletion of <=200bp T - frameshift_variant S1336 KIRC-US 2 24435521 24435521 deletion of <=200bp T - frameshift_variant S1363 KIRC-US 2 24435521 24435521 deletion of <=200bp T - upstream_gene_variant KIRC-US 2 24435589 24435589 deletion of <=200bp C - frameshift_variant G1313 KIRC-US 2 24435589 24435589 deletion of <=200bp C - frameshift_variant G1340 KIRC-US 2 24435589 24435589 deletion of <=200bp C - upstream_gene_variant KIRC-US 2 24469086 24469086 single base substitution A G synonymous_variant D1136D 3408T>C KIRC-US 2 24469086 24469086 single base substitution A G synonymous_variant D1163D 3489T>C KIRC-US 2 24469086 24469086 single base substitution A G synonymous_variant D90D 270T>C KIRC-US 2 24493591 24493591 single base substitution A G synonymous_variant F741F 2223T>C KIRC-US 2 24493591 24493591 single base substitution A G synonymous_variant F768F 2304T>C KIRC-US 2 24494732 24494732 single base substitution C G missense_variant Q693H 2079G>C KIRC-US 2 24494732 24494732 single base substitution C G missense_variant Q720H 2160G>C KIRC-US 2 24524884 24524884 single base substitution T G synonymous_variant G315G 945A>C KIRC-US 2 24524884 24524884 single base substitution T G synonymous_variant G340G 1020A>C KIRC-US 2 24535240 24535240 single base substitution A G exon_variant KIRC-US 2 24535240 24535240 single base substitution A G synonymous_variant L51L 151T>C KIRC-US 2 24535240 24535240 single base substitution A G synonymous_variant L65L 193T>C KIRP-US 2 24469667 24469667 single base substitution A G splice_region_variant KIRP-US 2 24509153 24509155 deletion of <=200bp TTC - downstream_gene_variant KIRP-US 2 24509153 24509155 deletion of <=200bp TTC - inframe_deletion E597 LAML-KR 2 24439048 24439048 single base substitution A G downstream_gene_variant LAML-KR 2 24439048 24439048 single base substitution A G missense_variant I1260T 3779T>C LAML-KR 2 24439048 24439048 single base substitution A G missense_variant I1287T 3860T>C LAML-KR 2 24557641 24557641 single base substitution T C intron_variant LICA-CN 2 24523013 24523013 single base substitution T C missense_variant N370S 1109A>G LICA-CN 2 24523013 24523013 single base substitution T C missense_variant N395S 1184A>G LICA-CN 2 24523013 24523013 single base substitution T C upstream_gene_variant LICA-CN 2 24533561 24533561 single base substitution C T downstream_gene_variant LICA-CN 2 24533561 24533561 single base substitution C T missense_variant G104E 311G>A LICA-CN 2 24533561 24533561 single base substitution C T missense_variant G118E 353G>A LICA-FR 2 24428132 24428132 single base substitution C T 3_prime_UTR_variant LICA-FR 2 24428132 24428132 single base substitution C T downstream_gene_variant LICA-FR 2 24428132 24428132 single base substitution C T exon_variant LICA-FR 2 24428132 24428132 single base substitution C T synonymous_variant L1544L 4632G>A LICA-FR 2 24428132 24428132 single base substitution C T synonymous_variant L1571L 4713G>A LICA-FR 2 24432872 24432872 single base substitution G C exon_variant LICA-FR 2 24432872 24432872 single base substitution G C missense_variant L1403V 4207C>G LICA-FR 2 24432872 24432872 single base substitution G C missense_variant L1430V 4288C>G LICA-FR 2 24432872 24432872 single base substitution G C upstream_gene_variant LICA-FR 2 24448497 24448497 single base substitution C G intron_variant LICA-FR 2 24468719 24468719 single base substitution T A intron_variant LICA-FR 2 24469168 24469168 single base substitution T C missense_variant Y1109C 3326A>G LICA-FR 2 24469168 24469168 single base substitution T C missense_variant Y1136C 3407A>G LICA-FR 2 24469168 24469168 single base substitution T C missense_variant Y63C 188A>G LICA-FR 2 24474392 24474392 single base substitution A G intron_variant LICA-FR 2 24474392 24474392 single base substitution A G upstream_gene_variant LICA-FR 2 24477267 24477267 insertion of <=200bp - T frameshift_variant K947K? LICA-FR 2 24477267 24477267 insertion of <=200bp - T frameshift_variant K974K? LICA-FR 2 24478545 24478545 single base substitution T C intron_variant LICA-FR 2 24478709 24478709 single base substitution G A intron_variant LICA-FR 2 24495995 24495995 single base substitution C T intron_variant LICA-FR 2 24496669 24496669 single base substitution G C intron_variant LICA-FR 2 24504669 24504669 single base substitution C G downstream_gene_variant LICA-FR 2 24504669 24504669 single base substitution C G intron_variant LICA-FR 2 24505887 24505888 deletion of <=200bp AA - downstream_gene_variant LICA-FR 2 24505887 24505888 deletion of <=200bp AA - intron_variant LICA-FR 2 24507631 24507631 single base substitution C A downstream_gene_variant LICA-FR 2 24507631 24507631 single base substitution C A intron_variant LICA-FR 2 24507631 24507631 single base substitution C A splice_donor_variant LICA-FR 2 24514359 24514361 deletion of <=200bp TTT - downstream_gene_variant LICA-FR 2 24514359 24514361 deletion of <=200bp TTT - intron_variant LICA-FR 2 24521896 24521896 deletion of <=200bp T - intron_variant LICA-FR 2 24521896 24521896 deletion of <=200bp T - upstream_gene_variant LICA-FR 2 24525681 24525681 single base substitution A T intron_variant LICA-FR 2 24533166 24533166 single base substitution A C downstream_gene_variant LICA-FR 2 24533166 24533166 single base substitution A C missense_variant L214V 640T>G LICA-FR 2 24535244 24535244 single base substitution C A missense_variant W49C 147G>T LICA-FR 2 24535244 24535244 single base substitution C A missense_variant W63C 189G>T LICA-FR 2 24535244 24535244 single base substitution C A splice_region_variant LICA-FR 2 24550792 24550792 deletion of <=200bp T - intron_variant LIHC-US 2 24509193 24509193 single base substitution T G missense_variant K584T 1751A>C LIHC-US 2 24509193 24509193 single base substitution T G missense_variant K609T 1826A>C LIHC-US 2 24535152 24535152 single base substitution T A exon_variant LIHC-US 2 24535152 24535152 single base substitution T A missense_variant Q80L 239A>T LIHC-US 2 24535152 24535152 single base substitution T A missense_variant Q94L 281A>T LINC-JP 2 24423465 24423465 single base substitution A T downstream_gene_variant LINC-JP 2 24438016 24438016 single base substitution A G intron_variant LINC-JP 2 24438016 24438016 single base substitution A G upstream_gene_variant LINC-JP 2 24443678 24443678 single base substitution C A 3_prime_UTR_variant LINC-JP 2 24443678 24443678 single base substitution C A intron_variant LINC-JP 2 24450047 24450047 single base substitution A T intron_variant LINC-JP 2 24459723 24459723 single base substitution A T downstream_gene_variant LINC-JP 2 24459723 24459723 single base substitution A T intron_variant LINC-JP 2 24463492 24463492 single base substitution T C 3_prime_UTR_variant LINC-JP 2 24463492 24463492 single base substitution T C intron_variant LINC-JP 2 24475704 24475704 single base substitution G C intron_variant LINC-JP 2 24475704 24475704 single base substitution G C upstream_gene_variant LINC-JP 2 24484400 24484400 single base substitution T C intron_variant LINC-JP 2 24507529 24507529 single base substitution T C downstream_gene_variant LINC-JP 2 24507529 24507529 single base substitution T C intron_variant LINC-JP 2 24514424 24514424 single base substitution T A downstream_gene_variant LINC-JP 2 24514424 24514424 single base substitution T A intron_variant LINC-JP 2 24521696 24521696 single base substitution A G intron_variant LINC-JP 2 24521696 24521696 single base substitution A G upstream_gene_variant LINC-JP 2 24522071 24522071 single base substitution T G intron_variant LINC-JP 2 24522071 24522071 single base substitution T G upstream_gene_variant LINC-JP 2 24523536 24523536 single base substitution C A intron_variant LINC-JP 2 24523536 24523536 single base substitution C A upstream_gene_variant LINC-JP 2 24526307 24526307 single base substitution A G intron_variant LINC-JP 2 24526637 24526637 single base substitution T C intron_variant LINC-JP 2 24531504 24531504 single base substitution T C downstream_gene_variant LINC-JP 2 24531504 24531504 single base substitution T C missense_variant M259V 775A>G LINC-JP 2 24531504 24531504 single base substitution T C missense_variant M284V 850A>G LINC-JP 2 24533307 24533307 single base substitution T C downstream_gene_variant LINC-JP 2 24533307 24533307 single base substitution T C intron_variant LINC-JP 2 24542257 24542257 single base substitution A C intron_variant LINC-JP 2 24543652 24543652 single base substitution C A intron_variant LINC-JP 2 24554245 24554245 deletion of <=200bp T - intron_variant LIRI-JP 2 24422726 24422726 single base substitution C G downstream_gene_variant LIRI-JP 2 24423038 24423038 single base substitution G A downstream_gene_variant LIRI-JP 2 24424896 24424896 single base substitution G T downstream_gene_variant LIRI-JP 2 24426040 24426040 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 24426040 24426040 single base substitution G A downstream_gene_variant LIRI-JP 2 24426040 24426040 single base substitution G A exon_variant LIRI-JP 2 24426799 24426800 deletion of <=200bp GT - downstream_gene_variant LIRI-JP 2 24426799 24426800 deletion of <=200bp GT - exon_variant LIRI-JP 2 24426799 24426800 deletion of <=200bp GT - intron_variant LIRI-JP 2 24428884 24428884 single base substitution G A intron_variant LIRI-JP 2 24428884 24428884 single base substitution G A upstream_gene_variant LIRI-JP 2 24432489 24432489 single base substitution G C intron_variant LIRI-JP 2 24432489 24432489 single base substitution G C upstream_gene_variant LIRI-JP 2 24432727 24432728 deletion of <=200bp AA - exon_variant LIRI-JP 2 24432727 24432728 deletion of <=200bp AA - frameshift_variant F1451 LIRI-JP 2 24432727 24432728 deletion of <=200bp AA - frameshift_variant F1478 LIRI-JP 2 24432727 24432728 deletion of <=200bp AA - upstream_gene_variant LIRI-JP 2 24433938 24433938 single base substitution C T intron_variant LIRI-JP 2 24433938 24433938 single base substitution C T upstream_gene_variant LIRI-JP 2 24435973 24435973 single base substitution C A intron_variant LIRI-JP 2 24435973 24435973 single base substitution C A upstream_gene_variant LIRI-JP 2 24435986 24435986 single base substitution G T intron_variant LIRI-JP 2 24435986 24435986 single base substitution G T upstream_gene_variant LIRI-JP 2 24437324 24437324 single base substitution T C intron_variant LIRI-JP 2 24437324 24437324 single base substitution T C upstream_gene_variant LIRI-JP 2 24444045 24444045 single base substitution G A intron_variant LIRI-JP 2 24444336 24444336 single base substitution G T intron_variant LIRI-JP 2 24450657 24450657 single base substitution G A intron_variant LIRI-JP 2 24450872 24450872 single base substitution T G intron_variant LIRI-JP 2 24452236 24452236 single base substitution T C intron_variant LIRI-JP 2 24452777 24452777 single base substitution C T intron_variant LIRI-JP 2 24454634 24454634 single base substitution T C intron_variant LIRI-JP 2 24456037 24456037 single base substitution T C intron_variant LIRI-JP 2 24456128 24456128 single base substitution A T intron_variant LIRI-JP 2 24457273 24457273 single base substitution T A downstream_gene_variant LIRI-JP 2 24457273 24457273 single base substitution T A intron_variant LIRI-JP 2 24457993 24457993 single base substitution T C downstream_gene_variant LIRI-JP 2 24457993 24457993 single base substitution T C intron_variant LIRI-JP 2 24458080 24458080 single base substitution T G downstream_gene_variant LIRI-JP 2 24458080 24458080 single base substitution T G intron_variant LIRI-JP 2 24458736 24458736 single base substitution C T downstream_gene_variant LIRI-JP 2 24458736 24458736 single base substitution C T intron_variant LIRI-JP 2 24459091 24459091 single base substitution T C downstream_gene_variant LIRI-JP 2 24459091 24459091 single base substitution T C intron_variant LIRI-JP 2 24460949 24460949 single base substitution T A downstream_gene_variant LIRI-JP 2 24460949 24460949 single base substitution T A intron_variant LIRI-JP 2 24461921 24461921 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 24461921 24461921 single base substitution T C intron_variant LIRI-JP 2 24462628 24462628 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 24462628 24462628 single base substitution T C intron_variant LIRI-JP 2 24464435 24464435 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 24464435 24464435 single base substitution T C intron_variant LIRI-JP 2 24464970 24464970 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 24464970 24464970 single base substitution T C intron_variant LIRI-JP 2 24465418 24465418 single base substitution T C intron_variant LIRI-JP 2 24465763 24465763 deletion of <=200bp G - intron_variant LIRI-JP 2 24468798 24468798 single base substitution G A intron_variant LIRI-JP 2 24469316 24469316 single base substitution C G intron_variant LIRI-JP 2 24470639 24470639 single base substitution G C intron_variant LIRI-JP 2 24471980 24471980 single base substitution C T intron_variant LIRI-JP 2 24471980 24471980 single base substitution C T upstream_gene_variant LIRI-JP 2 24474687 24474687 single base substitution T G intron_variant LIRI-JP 2 24474687 24474687 single base substitution T G upstream_gene_variant LIRI-JP 2 24475577 24475577 single base substitution T C intron_variant LIRI-JP 2 24475577 24475577 single base substitution T C upstream_gene_variant LIRI-JP 2 24476117 24476117 single base substitution T C intron_variant LIRI-JP 2 24476117 24476117 single base substitution T C upstream_gene_variant LIRI-JP 2 24482216 24482216 single base substitution G A intron_variant LIRI-JP 2 24482933 24482933 single base substitution G A intron_variant LIRI-JP 2 24484260 24484260 single base substitution G C intron_variant LIRI-JP 2 24484789 24484789 single base substitution T A intron_variant LIRI-JP 2 24488125 24488125 single base substitution T C intron_variant LIRI-JP 2 24489086 24489086 single base substitution T C intron_variant LIRI-JP 2 24490304 24490318 deletion of <=200bp TATTGGCTATATATA - intron_variant LIRI-JP 2 24492552 24492552 single base substitution G A intron_variant LIRI-JP 2 24494068 24494068 single base substitution A T intron_variant LIRI-JP 2 24495766 24495766 single base substitution G A intron_variant LIRI-JP 2 24496815 24496815 single base substitution A C intron_variant LIRI-JP 2 24499190 24499190 single base substitution T C intron_variant LIRI-JP 2 24499260 24499260 single base substitution C A intron_variant LIRI-JP 2 24501642 24501642 single base substitution T C intron_variant LIRI-JP 2 24506146 24506146 single base substitution T C downstream_gene_variant LIRI-JP 2 24506146 24506146 single base substitution T C intron_variant LIRI-JP 2 24506495 24506495 single base substitution T C downstream_gene_variant LIRI-JP 2 24506495 24506495 single base substitution T C intron_variant LIRI-JP 2 24509192 24509192 deletion of <=200bp T - frameshift_variant K584 LIRI-JP 2 24509192 24509192 deletion of <=200bp T - frameshift_variant K609 LIRI-JP 2 24511927 24511927 single base substitution T G downstream_gene_variant LIRI-JP 2 24511927 24511927 single base substitution T G intron_variant LIRI-JP 2 24514651 24514651 single base substitution C A downstream_gene_variant LIRI-JP 2 24514651 24514651 single base substitution C A intron_variant LIRI-JP 2 24516276 24516276 single base substitution T C exon_variant LIRI-JP 2 24516276 24516276 single base substitution T C intron_variant LIRI-JP 2 24516946 24516946 single base substitution T A intron_variant LIRI-JP 2 24517358 24517358 single base substitution T C intron_variant LIRI-JP 2 24519434 24519434 single base substitution T C intron_variant LIRI-JP 2 24519434 24519434 single base substitution T C upstream_gene_variant LIRI-JP 2 24521512 24521512 single base substitution T G intron_variant LIRI-JP 2 24521512 24521512 single base substitution T G upstream_gene_variant LIRI-JP 2 24521767 24521767 single base substitution A T intron_variant LIRI-JP 2 24521767 24521767 single base substitution A T upstream_gene_variant LIRI-JP 2 24523976 24523976 single base substitution T C intron_variant LIRI-JP 2 24526742 24526742 single base substitution G A intron_variant LIRI-JP 2 24527329 24527329 single base substitution T C intron_variant LIRI-JP 2 24527632 24527632 single base substitution G C intron_variant LIRI-JP 2 24527893 24527893 single base substitution T C intron_variant LIRI-JP 2 24532519 24532519 single base substitution G A downstream_gene_variant LIRI-JP 2 24532519 24532519 single base substitution G A intron_variant LIRI-JP 2 24532916 24532916 single base substitution A G downstream_gene_variant LIRI-JP 2 24532916 24532916 single base substitution A G intron_variant LIRI-JP 2 24533136 24533136 single base substitution G A downstream_gene_variant LIRI-JP 2 24533136 24533136 single base substitution G A intron_variant LIRI-JP 2 24537925 24537925 single base substitution C A intron_variant LIRI-JP 2 24538073 24538073 single base substitution T C exon_variant LIRI-JP 2 24538073 24538073 single base substitution T C missense_variant I18V 52A>G LIRI-JP 2 24538073 24538073 single base substitution T C missense_variant I4V 10A>G LIRI-JP 2 24540112 24540112 single base substitution G A intron_variant LIRI-JP 2 24541252 24541252 single base substitution T C intron_variant LIRI-JP 2 24541724 24541724 single base substitution G T intron_variant LIRI-JP 2 24542303 24542303 single base substitution G A intron_variant LIRI-JP 2 24542496 24542506 deletion of <=200bp CAAAAACAAGG - intron_variant LIRI-JP 2 24545179 24545179 single base substitution A T intron_variant LIRI-JP 2 24545555 24545555 single base substitution C A intron_variant LIRI-JP 2 24545992 24545992 single base substitution T C intron_variant LIRI-JP 2 24546709 24546709 single base substitution G A intron_variant LIRI-JP 2 24546721 24546721 single base substitution C A intron_variant LIRI-JP 2 24549570 24549572 deletion of <=200bp AAC - intron_variant LIRI-JP 2 24549593 24549593 single base substitution T A intron_variant LIRI-JP 2 24550517 24550517 single base substitution A C intron_variant LIRI-JP 2 24551501 24551501 single base substitution T C intron_variant LIRI-JP 2 24552355 24552355 single base substitution T C intron_variant LIRI-JP 2 24554278 24554278 single base substitution A G intron_variant LIRI-JP 2 24558196 24558196 single base substitution A G intron_variant LIRI-JP 2 24565500 24565500 single base substitution G A intron_variant LIRI-JP 2 24566378 24566378 single base substitution A G intron_variant LIRI-JP 2 24566888 24566888 single base substitution T C intron_variant LIRI-JP 2 24567510 24567510 single base substitution T C intron_variant LIRI-JP 2 24567732 24567732 single base substitution A G intron_variant LIRI-JP 2 24569633 24569633 single base substitution A G intron_variant LIRI-JP 2 24571174 24571174 single base substitution G T intron_variant LIRI-JP 2 24571340 24571340 single base substitution T C intron_variant LIRI-JP 2 24573042 24573042 single base substitution G A intron_variant LIRI-JP 2 24574155 24574155 single base substitution G T intron_variant LIRI-JP 2 24574414 24574414 single base substitution C A intron_variant LIRI-JP 2 24578043 24578043 deletion of <=200bp T - intron_variant LIRI-JP 2 24582270 24582270 single base substitution T C intron_variant LIRI-JP 2 24585850 24585851 deletion of <=200bp AG - upstream_gene_variant LIRI-JP 2 24586964 24586964 single base substitution G A upstream_gene_variant LIRI-JP 2 24587479 24587479 single base substitution C A upstream_gene_variant LIRI-JP 2 24587774 24587774 single base substitution A G upstream_gene_variant LIRI-JP 2 24587969 24587969 single base substitution A G upstream_gene_variant LIRI-JP 2 24588302 24588302 single base substitution T A upstream_gene_variant LIRI-JP 2 24588338 24588338 single base substitution A T upstream_gene_variant LUSC-KR 2 24420858 24420858 single base substitution G A downstream_gene_variant LUSC-KR 2 24425554 24425554 single base substitution G T downstream_gene_variant LUSC-KR 2 24429683 24429683 single base substitution C G intron_variant LUSC-KR 2 24429683 24429683 single base substitution C G upstream_gene_variant LUSC-KR 2 24432127 24432127 single base substitution G A intron_variant LUSC-KR 2 24432127 24432127 single base substitution G A upstream_gene_variant LUSC-KR 2 24440224 24440224 single base substitution T A downstream_gene_variant LUSC-KR 2 24440224 24440224 single base substitution T A intron_variant LUSC-KR 2 24445344 24445344 single base substitution C T intron_variant LUSC-KR 2 24452060 24452060 single base substitution T C intron_variant LUSC-KR 2 24459349 24459349 single base substitution A C downstream_gene_variant LUSC-KR 2 24459349 24459349 single base substitution A C intron_variant LUSC-KR 2 24463233 24463233 single base substitution G T 3_prime_UTR_variant LUSC-KR 2 24463233 24463233 single base substitution G T intron_variant LUSC-KR 2 24465866 24465866 single base substitution A G intron_variant LUSC-KR 2 24472748 24472748 single base substitution A G intron_variant LUSC-KR 2 24472748 24472748 single base substitution A G upstream_gene_variant LUSC-KR 2 24477981 24477981 single base substitution C A intron_variant LUSC-KR 2 24479098 24479098 single base substitution C A intron_variant LUSC-KR 2 24486275 24486275 single base substitution A G intron_variant LUSC-KR 2 24489934 24489934 single base substitution C T intron_variant LUSC-KR 2 24490130 24490130 single base substitution G A intron_variant LUSC-KR 2 24492167 24492167 single base substitution G C intron_variant LUSC-KR 2 24497599 24497599 single base substitution G C intron_variant LUSC-KR 2 24502632 24502632 single base substitution C T intron_variant LUSC-KR 2 24504426 24504426 single base substitution T A downstream_gene_variant LUSC-KR 2 24504426 24504426 single base substitution T A intron_variant LUSC-KR 2 24504839 24504839 single base substitution G C downstream_gene_variant LUSC-KR 2 24504839 24504839 single base substitution G C intron_variant LUSC-KR 2 24508236 24508236 single base substitution C G downstream_gene_variant LUSC-KR 2 24508236 24508236 single base substitution C G intron_variant LUSC-KR 2 24508326 24508326 single base substitution G C downstream_gene_variant LUSC-KR 2 24508326 24508326 single base substitution G C intron_variant LUSC-KR 2 24509223 24509223 single base substitution G A intron_variant LUSC-KR 2 24509223 24509223 single base substitution G A splice_region_variant LUSC-KR 2 24514215 24514215 single base substitution C A downstream_gene_variant LUSC-KR 2 24514215 24514215 single base substitution C A intron_variant LUSC-KR 2 24516814 24516814 single base substitution G C intron_variant LUSC-KR 2 24517481 24517481 single base substitution G T intron_variant LUSC-KR 2 24518719 24518719 single base substitution G A intron_variant LUSC-KR 2 24518719 24518719 single base substitution G A upstream_gene_variant LUSC-KR 2 24519198 24519198 single base substitution G A intron_variant LUSC-KR 2 24519198 24519198 single base substitution G A upstream_gene_variant LUSC-KR 2 24519692 24519692 single base substitution G C intron_variant LUSC-KR 2 24519692 24519692 single base substitution G C upstream_gene_variant LUSC-KR 2 24521834 24521834 single base substitution G T intron_variant LUSC-KR 2 24521834 24521834 single base substitution G T upstream_gene_variant LUSC-KR 2 24522840 24522840 single base substitution T C missense_variant K428E 1282A>G LUSC-KR 2 24522840 24522840 single base substitution T C missense_variant K453E 1357A>G LUSC-KR 2 24522840 24522840 single base substitution T C upstream_gene_variant LUSC-KR 2 24523210 24523210 single base substitution C T intron_variant LUSC-KR 2 24523210 24523210 single base substitution C T upstream_gene_variant LUSC-KR 2 24523911 24523911 single base substitution C A intron_variant LUSC-KR 2 24524894 24524894 single base substitution G C missense_variant A312G 935C>G LUSC-KR 2 24524894 24524894 single base substitution G C missense_variant A337G 1010C>G LUSC-KR 2 24525199 24525199 single base substitution C G intron_variant LUSC-KR 2 24535815 24535815 single base substitution T G intron_variant LUSC-KR 2 24537142 24537142 single base substitution T C intron_variant LUSC-KR 2 24540015 24540015 single base substitution C T intron_variant LUSC-KR 2 24540654 24540654 single base substitution G C intron_variant LUSC-KR 2 24542673 24542673 single base substitution C G intron_variant LUSC-KR 2 24547646 24547646 single base substitution C A intron_variant LUSC-KR 2 24548609 24548609 single base substitution G A intron_variant LUSC-KR 2 24550529 24550529 single base substitution C A intron_variant LUSC-KR 2 24556427 24556427 single base substitution T C intron_variant LUSC-KR 2 24557357 24557357 single base substitution C A intron_variant LUSC-KR 2 24560538 24560538 single base substitution C T intron_variant LUSC-KR 2 24570712 24570712 single base substitution C A intron_variant LUSC-US 2 24427169 24427169 single base substitution G C 3_prime_UTR_variant LUSC-US 2 24427169 24427169 single base substitution G C downstream_gene_variant LUSC-US 2 24427169 24427169 single base substitution G C exon_variant LUSC-US 2 24427169 24427169 single base substitution G C synonymous_variant L1600L 4800C>G LUSC-US 2 24427169 24427169 single base substitution G C synonymous_variant L1627L 4881C>G LUSC-US 2 24432886 24432886 single base substitution G A exon_variant LUSC-US 2 24432886 24432886 single base substitution G A missense_variant S1398F 4193C>T LUSC-US 2 24432886 24432886 single base substitution G A missense_variant S1425F 4274C>T LUSC-US 2 24432886 24432886 single base substitution G A upstream_gene_variant LUSC-US 2 24435597 24435597 single base substitution C A synonymous_variant R1310R 3930G>T LUSC-US 2 24435597 24435597 single base substitution C A synonymous_variant R1337R 4011G>T LUSC-US 2 24435597 24435597 single base substitution C A upstream_gene_variant LUSC-US 2 24435600 24435600 single base substitution C A synonymous_variant P1309P 3927G>T LUSC-US 2 24435600 24435600 single base substitution C A synonymous_variant P1336P 4008G>T LUSC-US 2 24435600 24435600 single base substitution C A upstream_gene_variant LUSC-US 2 24480961 24480961 single base substitution C T missense_variant G868E 2603G>A LUSC-US 2 24480961 24480961 single base substitution C T missense_variant G895E 2684G>A LUSC-US 2 24484607 24484607 single base substitution T A missense_variant D760V 2279A>T LUSC-US 2 24484607 24484607 single base substitution T A missense_variant D787V 2360A>T LUSC-US 2 24494810 24494810 single base substitution C T splice_region_variant LUSC-US 2 24524030 24524030 single base substitution T A missense_variant K358N 1074A>T LUSC-US 2 24524030 24524030 single base substitution T A missense_variant K383N 1149A>T LUSC-US 2 24524941 24524941 single base substitution C T synonymous_variant Q296Q 888G>A LUSC-US 2 24524941 24524941 single base substitution C T synonymous_variant Q321Q 963G>A MALY-DE 2 24434947 24434947 single base substitution T C intron_variant MALY-DE 2 24434947 24434947 single base substitution T C upstream_gene_variant MALY-DE 2 24444017 24444017 single base substitution T A intron_variant MALY-DE 2 24466792 24466792 single base substitution T C intron_variant MALY-DE 2 24469376 24469376 single base substitution C T intron_variant MALY-DE 2 24473072 24473072 single base substitution C T intron_variant MALY-DE 2 24473072 24473072 single base substitution C T upstream_gene_variant MALY-DE 2 24489162 24489162 single base substitution G A intron_variant MALY-DE 2 24491967 24491967 single base substitution C T intron_variant MALY-DE 2 24502131 24502131 single base substitution A G intron_variant MALY-DE 2 24502677 24502715 deletion of <=200bp CTACAACCTCCGCCTCCCGGGTTCAGGTGATTCACCTGC - intron_variant MALY-DE 2 24523790 24523790 single base substitution A G intron_variant MALY-DE 2 24530626 24530626 single base substitution T C downstream_gene_variant MALY-DE 2 24530626 24530626 single base substitution T C intron_variant MALY-DE 2 24531379 24531379 single base substitution T G downstream_gene_variant MALY-DE 2 24531379 24531379 single base substitution T G intron_variant MALY-DE 2 24531716 24531721 deletion of <=200bp ACCAGG - downstream_gene_variant MALY-DE 2 24531716 24531721 deletion of <=200bp ACCAGG - intron_variant MALY-DE 2 24533932 24533933 deletion of <=200bp AC - downstream_gene_variant MALY-DE 2 24533932 24533933 deletion of <=200bp AC - intron_variant MALY-DE 2 24539807 24539807 single base substitution G A intron_variant MALY-DE 2 24543499 24543499 single base substitution G C intron_variant MALY-DE 2 24550480 24550480 deletion of <=200bp A - intron_variant MALY-DE 2 24561637 24561637 single base substitution G A intron_variant MALY-DE 2 24561955 24561955 single base substitution A G intron_variant MALY-DE 2 24566250 24566265 deletion of <=200bp TTTTTCATGTTACCAA - intron_variant MALY-DE 2 24567370 24567370 single base substitution T C intron_variant MALY-DE 2 24577530 24577530 single base substitution T A intron_variant MALY-DE 2 24587269 24587269 single base substitution G A upstream_gene_variant MALY-DE 2 24587310 24587310 single base substitution T A upstream_gene_variant MELA-AU 2 24421528 24421528 single base substitution G A downstream_gene_variant MELA-AU 2 24421664 24421664 single base substitution T A downstream_gene_variant MELA-AU 2 24422533 24422533 single base substitution G A downstream_gene_variant MELA-AU 2 24423456 24423456 single base substitution G A downstream_gene_variant MELA-AU 2 24424210 24424210 single base substitution G A downstream_gene_variant MELA-AU 2 24424310 24424310 single base substitution G A downstream_gene_variant MELA-AU 2 24424717 24424717 single base substitution G A downstream_gene_variant MELA-AU 2 24425496 24425496 single base substitution G A downstream_gene_variant MELA-AU 2 24426194 24426195 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 2 24426194 24426195 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 24426194 24426195 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 2 24427225 24427225 single base substitution G A 3_prime_UTR_variant MELA-AU 2 24427225 24427225 single base substitution G A downstream_gene_variant MELA-AU 2 24427225 24427225 single base substitution G A exon_variant MELA-AU 2 24427225 24427225 single base substitution G A stop_gained Q1582* 4744C>T MELA-AU 2 24427225 24427225 single base substitution G A stop_gained Q1609* 4825C>T MELA-AU 2 24428097 24428097 single base substitution G A 3_prime_UTR_variant MELA-AU 2 24428097 24428097 single base substitution G A downstream_gene_variant MELA-AU 2 24428097 24428097 single base substitution G A exon_variant MELA-AU 2 24428097 24428097 single base substitution G A missense_variant A1556V 4667C>T MELA-AU 2 24428097 24428097 single base substitution G A missense_variant A1583V 4748C>T MELA-AU 2 24428496 24428496 single base substitution G A exon_variant MELA-AU 2 24428496 24428496 single base substitution G A intron_variant MELA-AU 2 24429846 24429846 single base substitution G A intron_variant MELA-AU 2 24429846 24429846 single base substitution G A upstream_gene_variant MELA-AU 2 24430161 24430161 single base substitution G A intron_variant MELA-AU 2 24430161 24430161 single base substitution G A upstream_gene_variant MELA-AU 2 24430164 24430164 single base substitution G A intron_variant MELA-AU 2 24430164 24430164 single base substitution G A upstream_gene_variant MELA-AU 2 24430590 24430590 single base substitution G A intron_variant MELA-AU 2 24430590 24430590 single base substitution G A upstream_gene_variant MELA-AU 2 24430633 24430633 single base substitution G A intron_variant MELA-AU 2 24430633 24430633 single base substitution G A upstream_gene_variant MELA-AU 2 24431543 24431543 single base substitution C T intron_variant MELA-AU 2 24431543 24431543 single base substitution C T upstream_gene_variant MELA-AU 2 24431838 24431838 single base substitution G A intron_variant MELA-AU 2 24431838 24431838 single base substitution G A upstream_gene_variant MELA-AU 2 24433137 24433137 single base substitution C T exon_variant MELA-AU 2 24433137 24433137 single base substitution C T intron_variant MELA-AU 2 24433137 24433137 single base substitution C T upstream_gene_variant MELA-AU 2 24433681 24433681 single base substitution G A stop_gained Q1382* 4144C>T MELA-AU 2 24433681 24433681 single base substitution G A stop_gained Q1409* 4225C>T MELA-AU 2 24433681 24433681 single base substitution G A upstream_gene_variant MELA-AU 2 24433696 24433697 multiple base substitution (>=2bp and <=200bp) GG AA stop_gained DR1376D* MELA-AU 2 24433696 24433697 multiple base substitution (>=2bp and <=200bp) GG AA stop_gained DR1403D* MELA-AU 2 24433696 24433697 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 24434045 24434045 single base substitution G A intron_variant MELA-AU 2 24434045 24434045 single base substitution G A upstream_gene_variant MELA-AU 2 24434968 24434968 single base substitution C G intron_variant MELA-AU 2 24434968 24434968 single base substitution C G upstream_gene_variant MELA-AU 2 24435006 24435006 single base substitution G A intron_variant MELA-AU 2 24435006 24435006 single base substitution G A upstream_gene_variant MELA-AU 2 24435054 24435054 single base substitution G A intron_variant MELA-AU 2 24435054 24435054 single base substitution G A upstream_gene_variant MELA-AU 2 24435770 24435770 single base substitution T A intron_variant MELA-AU 2 24435770 24435770 single base substitution T A upstream_gene_variant MELA-AU 2 24436009 24436009 single base substitution C T intron_variant MELA-AU 2 24436009 24436009 single base substitution C T upstream_gene_variant MELA-AU 2 24436013 24436013 single base substitution G A intron_variant MELA-AU 2 24436013 24436013 single base substitution G A upstream_gene_variant MELA-AU 2 24437314 24437314 deletion of <=200bp C - intron_variant MELA-AU 2 24437314 24437314 deletion of <=200bp C - upstream_gene_variant MELA-AU 2 24438238 24438238 single base substitution G A downstream_gene_variant MELA-AU 2 24438238 24438238 single base substitution G A intron_variant MELA-AU 2 24438513 24438513 single base substitution G A downstream_gene_variant MELA-AU 2 24438513 24438513 single base substitution G A intron_variant MELA-AU 2 24438516 24438516 single base substitution A G downstream_gene_variant MELA-AU 2 24438516 24438516 single base substitution A G intron_variant MELA-AU 2 24438672 24438672 single base substitution A G downstream_gene_variant MELA-AU 2 24438672 24438672 single base substitution A G intron_variant MELA-AU 2 24438708 24438708 single base substitution G A downstream_gene_variant MELA-AU 2 24438708 24438708 single base substitution G A intron_variant MELA-AU 2 24438900 24438900 single base substitution G T downstream_gene_variant MELA-AU 2 24438900 24438900 single base substitution G T intron_variant MELA-AU 2 24439880 24439880 single base substitution G A downstream_gene_variant MELA-AU 2 24439880 24439880 single base substitution G A intron_variant MELA-AU 2 24440257 24440257 single base substitution G A downstream_gene_variant MELA-AU 2 24440257 24440257 single base substitution G A intron_variant MELA-AU 2 24440811 24440811 single base substitution C T downstream_gene_variant MELA-AU 2 24440811 24440811 single base substitution C T stop_gained W1230* 3690G>A MELA-AU 2 24440811 24440811 single base substitution C T stop_gained W1257* 3771G>A MELA-AU 2 24441018 24441018 single base substitution C T downstream_gene_variant MELA-AU 2 24441018 24441018 single base substitution C T intron_variant MELA-AU 2 24441592 24441592 single base substitution C T downstream_gene_variant MELA-AU 2 24441592 24441592 single base substitution C T intron_variant MELA-AU 2 24441802 24441802 single base substitution C T downstream_gene_variant MELA-AU 2 24441802 24441802 single base substitution C T intron_variant MELA-AU 2 24442105 24442105 single base substitution G A downstream_gene_variant MELA-AU 2 24442105 24442105 single base substitution G A intron_variant MELA-AU 2 24442685 24442685 single base substitution G A downstream_gene_variant MELA-AU 2 24442685 24442685 single base substitution G A intron_variant MELA-AU 2 24442813 24442813 single base substitution A G downstream_gene_variant MELA-AU 2 24442813 24442813 single base substitution A G intron_variant MELA-AU 2 24442833 24442833 single base substitution G A downstream_gene_variant MELA-AU 2 24442833 24442833 single base substitution G A intron_variant MELA-AU 2 24443549 24443549 single base substitution G A 3_prime_UTR_variant MELA-AU 2 24443549 24443549 single base substitution G A intron_variant MELA-AU 2 24443814 24443814 single base substitution C T splice_region_variant MELA-AU 2 24443814 24443814 single base substitution C T synonymous_variant E1233E 3699G>A MELA-AU 2 24444603 24444603 single base substitution C A intron_variant MELA-AU 2 24444630 24444630 single base substitution G A intron_variant MELA-AU 2 24445212 24445213 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 24445760 24445760 single base substitution G A intron_variant MELA-AU 2 24446613 24446614 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 24446661 24446662 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 24446674 24446674 single base substitution G A intron_variant MELA-AU 2 24446949 24446949 single base substitution G A intron_variant MELA-AU 2 24446963 24446963 single base substitution G A intron_variant MELA-AU 2 24447304 24447304 single base substitution G A intron_variant MELA-AU 2 24447492 24447492 single base substitution G A intron_variant MELA-AU 2 24448836 24448836 single base substitution C T intron_variant MELA-AU 2 24450189 24450189 single base substitution G A intron_variant MELA-AU 2 24450190 24450190 single base substitution G A intron_variant MELA-AU 2 24450467 24450467 single base substitution G A intron_variant MELA-AU 2 24450675 24450675 single base substitution C T intron_variant MELA-AU 2 24450859 24450859 single base substitution G A intron_variant MELA-AU 2 24451232 24451232 single base substitution G A intron_variant MELA-AU 2 24451836 24451836 single base substitution G A intron_variant MELA-AU 2 24451851 24451851 single base substitution A G intron_variant MELA-AU 2 24452443 24452443 single base substitution G A intron_variant MELA-AU 2 24452765 24452765 single base substitution G A intron_variant MELA-AU 2 24452835 24452835 single base substitution G A intron_variant MELA-AU 2 24453031 24453031 single base substitution A G intron_variant MELA-AU 2 24453651 24453651 single base substitution A T intron_variant MELA-AU 2 24455266 24455266 single base substitution C T intron_variant MELA-AU 2 24456118 24456118 single base substitution C T intron_variant MELA-AU 2 24457124 24457124 single base substitution G A downstream_gene_variant MELA-AU 2 24457124 24457124 single base substitution G A intron_variant MELA-AU 2 24457147 24457147 single base substitution G A downstream_gene_variant MELA-AU 2 24457147 24457147 single base substitution G A intron_variant MELA-AU 2 24457301 24457302 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU 2 24457301 24457302 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 2 24457952 24457952 single base substitution G A downstream_gene_variant MELA-AU 2 24457952 24457952 single base substitution G A intron_variant MELA-AU 2 24457981 24457981 single base substitution G A downstream_gene_variant MELA-AU 2 24457981 24457981 single base substitution G A intron_variant MELA-AU 2 24458428 24458428 single base substitution G A downstream_gene_variant MELA-AU 2 24458428 24458428 single base substitution G A intron_variant MELA-AU 2 24458443 24458443 single base substitution G A downstream_gene_variant MELA-AU 2 24458443 24458443 single base substitution G A intron_variant MELA-AU 2 24458591 24458591 single base substitution C T downstream_gene_variant MELA-AU 2 24458591 24458591 single base substitution C T intron_variant MELA-AU 2 24458743 24458743 single base substitution G A downstream_gene_variant MELA-AU 2 24458743 24458743 single base substitution G A intron_variant MELA-AU 2 24458990 24458990 single base substitution A G downstream_gene_variant MELA-AU 2 24458990 24458990 single base substitution A G intron_variant MELA-AU 2 24459695 24459695 single base substitution C T downstream_gene_variant MELA-AU 2 24459695 24459695 single base substitution C T intron_variant MELA-AU 2 24459822 24459823 multiple base substitution (>=2bp and <=200bp) TC GT downstream_gene_variant MELA-AU 2 24459822 24459823 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 2 24460519 24460519 single base substitution C T downstream_gene_variant MELA-AU 2 24460519 24460519 single base substitution C T intron_variant MELA-AU 2 24460679 24460679 single base substitution G A downstream_gene_variant MELA-AU 2 24460679 24460679 single base substitution G A intron_variant MELA-AU 2 24460957 24460958 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 24460957 24460958 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 24461703 24461703 single base substitution G A downstream_gene_variant MELA-AU 2 24461703 24461703 single base substitution G A intron_variant MELA-AU 2 24461777 24461777 single base substitution C T downstream_gene_variant MELA-AU 2 24461777 24461777 single base substitution C T intron_variant MELA-AU 2 24464000 24464000 single base substitution G A 3_prime_UTR_variant MELA-AU 2 24464000 24464000 single base substitution G A intron_variant MELA-AU 2 24464126 24464126 single base substitution C T 3_prime_UTR_variant MELA-AU 2 24464126 24464126 single base substitution C T intron_variant MELA-AU 2 24464171 24464171 single base substitution G A 3_prime_UTR_variant MELA-AU 2 24464171 24464171 single base substitution G A intron_variant MELA-AU 2 24465795 24465795 single base substitution A C intron_variant MELA-AU 2 24465831 24465831 single base substitution T A intron_variant MELA-AU 2 24466027 24466027 single base substitution G A intron_variant MELA-AU 2 24467435 24467435 single base substitution G A intron_variant MELA-AU 2 24468097 24468097 single base substitution T A intron_variant MELA-AU 2 24468203 24468203 single base substitution A G intron_variant MELA-AU 2 24469729 24469729 single base substitution G A missense_variant P1081S 3241C>T MELA-AU 2 24469729 24469729 single base substitution G A missense_variant P1108S 3322C>T MELA-AU 2 24469729 24469729 single base substitution G A missense_variant P35S 103C>T MELA-AU 2 24470045 24470045 single base substitution G A intron_variant MELA-AU 2 24470141 24470141 single base substitution T C intron_variant MELA-AU 2 24470202 24470202 single base substitution G A intron_variant MELA-AU 2 24470230 24470230 single base substitution G A intron_variant MELA-AU 2 24471241 24471241 single base substitution G A intron_variant MELA-AU 2 24472158 24472158 single base substitution G A intron_variant MELA-AU 2 24472158 24472158 single base substitution G A upstream_gene_variant MELA-AU 2 24472193 24472193 single base substitution G A intron_variant MELA-AU 2 24472193 24472193 single base substitution G A upstream_gene_variant MELA-AU 2 24472362 24472362 single base substitution G A intron_variant MELA-AU 2 24472362 24472362 single base substitution G A upstream_gene_variant MELA-AU 2 24473216 24473216 single base substitution G A intron_variant MELA-AU 2 24473216 24473216 single base substitution G A upstream_gene_variant MELA-AU 2 24473351 24473351 single base substitution G A intron_variant MELA-AU 2 24473351 24473351 single base substitution G A upstream_gene_variant MELA-AU 2 24473985 24473985 single base substitution G A intron_variant MELA-AU 2 24473985 24473985 single base substitution G A upstream_gene_variant MELA-AU 2 24474959 24474959 single base substitution C A intron_variant MELA-AU 2 24474959 24474959 single base substitution C A upstream_gene_variant MELA-AU 2 24475042 24475042 single base substitution G A intron_variant MELA-AU 2 24475042 24475042 single base substitution G A upstream_gene_variant MELA-AU 2 24476564 24476565 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 24476564 24476565 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 24478617 24478617 single base substitution G A intron_variant MELA-AU 2 24478709 24478709 single base substitution G A intron_variant MELA-AU 2 24478716 24478716 single base substitution T C intron_variant MELA-AU 2 24478733 24478733 single base substitution A G intron_variant MELA-AU 2 24478852 24478852 single base substitution G A intron_variant MELA-AU 2 24479465 24479465 single base substitution A G intron_variant MELA-AU 2 24479788 24479788 single base substitution G A intron_variant MELA-AU 2 24480096 24480096 single base substitution G A intron_variant MELA-AU 2 24480247 24480247 single base substitution G A intron_variant MELA-AU 2 24480283 24480283 single base substitution A T intron_variant MELA-AU 2 24482112 24482112 single base substitution C T intron_variant MELA-AU 2 24482555 24482555 single base substitution A T intron_variant MELA-AU 2 24483042 24483043 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 24483206 24483206 single base substitution G A intron_variant MELA-AU 2 24483472 24483472 single base substitution G A intron_variant MELA-AU 2 24486473 24486473 single base substitution G A intron_variant MELA-AU 2 24486990 24486990 single base substitution G A intron_variant MELA-AU 2 24487190 24487190 single base substitution G A intron_variant MELA-AU 2 24487594 24487594 single base substitution A C intron_variant MELA-AU 2 24488371 24488371 single base substitution G A intron_variant MELA-AU 2 24488525 24488525 single base substitution A G intron_variant MELA-AU 2 24489717 24489717 single base substitution G A intron_variant MELA-AU 2 24489937 24489937 single base substitution G A intron_variant MELA-AU 2 24490126 24490126 single base substitution G A intron_variant MELA-AU 2 24490833 24490833 single base substitution A G intron_variant MELA-AU 2 24490859 24490859 single base substitution C T intron_variant MELA-AU 2 24490989 24490989 single base substitution T A intron_variant MELA-AU 2 24491257 24491257 single base substitution G A intron_variant MELA-AU 2 24491641 24491641 single base substitution C G intron_variant MELA-AU 2 24492712 24492712 single base substitution G A intron_variant MELA-AU 2 24492856 24492856 single base substitution G A intron_variant MELA-AU 2 24493578 24493578 single base substitution G A missense_variant H746Y 2236C>T MELA-AU 2 24493578 24493578 single base substitution G A missense_variant H773Y 2317C>T MELA-AU 2 24493778 24493778 single base substitution G A intron_variant MELA-AU 2 24494100 24494100 single base substitution G A intron_variant MELA-AU 2 24494226 24494226 single base substitution G A intron_variant MELA-AU 2 24494459 24494459 single base substitution G A intron_variant MELA-AU 2 24494559 24494560 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 24495525 24495525 single base substitution G A intron_variant MELA-AU 2 24495815 24495815 single base substitution A G intron_variant MELA-AU 2 24496692 24496692 single base substitution G A intron_variant MELA-AU 2 24496702 24496702 single base substitution C A intron_variant MELA-AU 2 24497009 24497009 single base substitution A G intron_variant MELA-AU 2 24497467 24497467 single base substitution G A intron_variant MELA-AU 2 24497558 24497558 single base substitution A G intron_variant MELA-AU 2 24497852 24497852 single base substitution C A intron_variant MELA-AU 2 24498955 24498955 single base substitution G A intron_variant MELA-AU 2 24499886 24499886 single base substitution G A intron_variant MELA-AU 2 24500986 24500987 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 24501064 24501064 single base substitution A T intron_variant MELA-AU 2 24501263 24501263 single base substitution G A intron_variant MELA-AU 2 24501416 24501416 single base substitution C T intron_variant MELA-AU 2 24501774 24501774 single base substitution G A intron_variant MELA-AU 2 24502625 24502625 single base substitution G A intron_variant MELA-AU 2 24503894 24503894 single base substitution G A intron_variant MELA-AU 2 24504089 24504089 single base substitution G A intron_variant MELA-AU 2 24504240 24504240 single base substitution C T downstream_gene_variant MELA-AU 2 24504240 24504240 single base substitution C T intron_variant MELA-AU 2 24504937 24504937 single base substitution G A downstream_gene_variant MELA-AU 2 24504937 24504937 single base substitution G A intron_variant MELA-AU 2 24505178 24505178 single base substitution G A downstream_gene_variant MELA-AU 2 24505178 24505178 single base substitution G A intron_variant MELA-AU 2 24505221 24505221 single base substitution G A downstream_gene_variant MELA-AU 2 24505221 24505221 single base substitution G A intron_variant MELA-AU 2 24505233 24505233 single base substitution G A downstream_gene_variant MELA-AU 2 24505233 24505233 single base substitution G A intron_variant MELA-AU 2 24505621 24505621 single base substitution G A downstream_gene_variant MELA-AU 2 24505621 24505621 single base substitution G A intron_variant MELA-AU 2 24505863 24505863 single base substitution T A downstream_gene_variant MELA-AU 2 24505863 24505863 single base substitution T A intron_variant MELA-AU 2 24506030 24506030 single base substitution G A downstream_gene_variant MELA-AU 2 24506030 24506030 single base substitution G A intron_variant MELA-AU 2 24506153 24506153 single base substitution G A downstream_gene_variant MELA-AU 2 24506153 24506153 single base substitution G A intron_variant MELA-AU 2 24506674 24506674 single base substitution G A downstream_gene_variant MELA-AU 2 24506674 24506674 single base substitution G A intron_variant MELA-AU 2 24506802 24506802 single base substitution G A downstream_gene_variant MELA-AU 2 24506802 24506802 single base substitution G A intron_variant MELA-AU 2 24507042 24507042 single base substitution A G downstream_gene_variant MELA-AU 2 24507042 24507042 single base substitution A G intron_variant MELA-AU 2 24507196 24507196 single base substitution G A downstream_gene_variant MELA-AU 2 24507196 24507196 single base substitution G A intron_variant MELA-AU 2 24508093 24508093 single base substitution G A downstream_gene_variant MELA-AU 2 24508093 24508093 single base substitution G A intron_variant MELA-AU 2 24508564 24508564 single base substitution G A downstream_gene_variant MELA-AU 2 24508564 24508564 single base substitution G A intron_variant MELA-AU 2 24508876 24508876 single base substitution G A downstream_gene_variant MELA-AU 2 24508876 24508876 single base substitution G A intron_variant MELA-AU 2 24510750 24510750 single base substitution G A intron_variant MELA-AU 2 24511074 24511074 single base substitution T G intron_variant MELA-AU 2 24511133 24511133 single base substitution G A downstream_gene_variant MELA-AU 2 24511133 24511133 single base substitution G A intron_variant MELA-AU 2 24512846 24512846 single base substitution G A downstream_gene_variant MELA-AU 2 24512846 24512846 single base substitution G A intron_variant MELA-AU 2 24514197 24514197 single base substitution C T downstream_gene_variant MELA-AU 2 24514197 24514197 single base substitution C T intron_variant MELA-AU 2 24514422 24514422 single base substitution G A downstream_gene_variant MELA-AU 2 24514422 24514422 single base substitution G A intron_variant MELA-AU 2 24514846 24514846 single base substitution T C downstream_gene_variant MELA-AU 2 24514846 24514846 single base substitution T C intron_variant MELA-AU 2 24514925 24514925 single base substitution G A downstream_gene_variant MELA-AU 2 24514925 24514925 single base substitution G A intron_variant MELA-AU 2 24515281 24515281 single base substitution G A downstream_gene_variant MELA-AU 2 24515281 24515281 single base substitution G A intron_variant MELA-AU 2 24515293 24515293 single base substitution G A downstream_gene_variant MELA-AU 2 24515293 24515293 single base substitution G A intron_variant MELA-AU 2 24515750 24515750 single base substitution G A downstream_gene_variant MELA-AU 2 24515750 24515750 single base substitution G A intron_variant MELA-AU 2 24515753 24515753 single base substitution G A downstream_gene_variant MELA-AU 2 24515753 24515753 single base substitution G A intron_variant MELA-AU 2 24516441 24516441 single base substitution G A exon_variant MELA-AU 2 24516441 24516441 single base substitution G A intron_variant MELA-AU 2 24517532 24517532 single base substitution G A intron_variant MELA-AU 2 24517750 24517750 single base substitution G A intron_variant MELA-AU 2 24518166 24518166 single base substitution G A intron_variant MELA-AU 2 24518178 24518178 single base substitution C T intron_variant MELA-AU 2 24518298 24518298 single base substitution C T intron_variant MELA-AU 2 24518415 24518415 single base substitution G A intron_variant MELA-AU 2 24519260 24519260 single base substitution C A intron_variant MELA-AU 2 24519260 24519260 single base substitution C A upstream_gene_variant MELA-AU 2 24519432 24519432 single base substitution G A intron_variant MELA-AU 2 24519432 24519432 single base substitution G A upstream_gene_variant MELA-AU 2 24519432 24519432 single base substitution G C intron_variant MELA-AU 2 24519432 24519432 single base substitution G C upstream_gene_variant MELA-AU 2 24519543 24519543 single base substitution G A intron_variant MELA-AU 2 24519543 24519543 single base substitution G A upstream_gene_variant MELA-AU 2 24520693 24520693 single base substitution G A intron_variant MELA-AU 2 24520693 24520693 single base substitution G A upstream_gene_variant MELA-AU 2 24520785 24520785 single base substitution A T intron_variant MELA-AU 2 24520785 24520785 single base substitution A T upstream_gene_variant MELA-AU 2 24520787 24520787 single base substitution A T intron_variant MELA-AU 2 24520787 24520787 single base substitution A T upstream_gene_variant MELA-AU 2 24520917 24520917 single base substitution G A intron_variant MELA-AU 2 24520917 24520917 single base substitution G A upstream_gene_variant MELA-AU 2 24520989 24520989 single base substitution G A intron_variant MELA-AU 2 24520989 24520989 single base substitution G A upstream_gene_variant MELA-AU 2 24521517 24521517 single base substitution T C intron_variant MELA-AU 2 24521517 24521517 single base substitution T C upstream_gene_variant MELA-AU 2 24521890 24521890 single base substitution G A intron_variant MELA-AU 2 24521890 24521890 single base substitution G A upstream_gene_variant MELA-AU 2 24522033 24522033 single base substitution G A intron_variant MELA-AU 2 24522033 24522033 single base substitution G A upstream_gene_variant MELA-AU 2 24522193 24522193 single base substitution G A intron_variant MELA-AU 2 24522193 24522193 single base substitution G A upstream_gene_variant MELA-AU 2 24522990 24522990 single base substitution G A synonymous_variant L378L 1132C>T MELA-AU 2 24522990 24522990 single base substitution G A synonymous_variant L403L 1207C>T MELA-AU 2 24522990 24522990 single base substitution G A upstream_gene_variant MELA-AU 2 24523336 24523336 single base substitution C A intron_variant MELA-AU 2 24523336 24523336 single base substitution C A upstream_gene_variant MELA-AU 2 24523363 24523363 single base substitution G A intron_variant MELA-AU 2 24523363 24523363 single base substitution G A upstream_gene_variant MELA-AU 2 24523908 24523908 single base substitution T C intron_variant MELA-AU 2 24524585 24524585 single base substitution G A intron_variant MELA-AU 2 24524859 24524859 single base substitution G A missense_variant P324S 970C>T MELA-AU 2 24524859 24524859 single base substitution G A missense_variant P349S 1045C>T MELA-AU 2 24524923 24524923 single base substitution A G synonymous_variant F302F 906T>C MELA-AU 2 24524923 24524923 single base substitution A G synonymous_variant F327F 981T>C MELA-AU 2 24525325 24525325 single base substitution C T intron_variant MELA-AU 2 24526745 24526745 single base substitution G A intron_variant MELA-AU 2 24528368 24528369 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 24528368 24528369 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 24529590 24529590 single base substitution G A downstream_gene_variant MELA-AU 2 24529590 24529590 single base substitution G A intron_variant MELA-AU 2 24529903 24529903 single base substitution G A downstream_gene_variant MELA-AU 2 24529903 24529903 single base substitution G A intron_variant MELA-AU 2 24529942 24529942 single base substitution G A downstream_gene_variant MELA-AU 2 24529942 24529942 single base substitution G A intron_variant MELA-AU 2 24530046 24530046 single base substitution T C downstream_gene_variant MELA-AU 2 24530046 24530046 single base substitution T C intron_variant MELA-AU 2 24531435 24531435 single base substitution G A downstream_gene_variant MELA-AU 2 24531435 24531435 single base substitution G A intron_variant MELA-AU 2 24531558 24531558 single base substitution G A downstream_gene_variant MELA-AU 2 24531558 24531558 single base substitution G A missense_variant P241S 721C>T MELA-AU 2 24531558 24531558 single base substitution G A missense_variant P266S 796C>T MELA-AU 2 24532462 24532462 single base substitution C T downstream_gene_variant MELA-AU 2 24532462 24532462 single base substitution C T intron_variant MELA-AU 2 24532512 24532512 single base substitution T C downstream_gene_variant MELA-AU 2 24532512 24532512 single base substitution T C intron_variant MELA-AU 2 24533256 24533256 single base substitution A G downstream_gene_variant MELA-AU 2 24533256 24533256 single base substitution A G intron_variant MELA-AU 2 24533256 24533256 single base substitution A G splice_region_variant MELA-AU 2 24533373 24533373 single base substitution G A downstream_gene_variant MELA-AU 2 24533373 24533373 single base substitution G A missense_variant P167S 499C>T MELA-AU 2 24533373 24533373 single base substitution G A missense_variant P181S 541C>T MELA-AU 2 24533652 24533652 single base substitution C T downstream_gene_variant MELA-AU 2 24533652 24533652 single base substitution C T intron_variant MELA-AU 2 24534126 24534127 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 24534126 24534127 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 24534767 24534767 single base substitution A C intron_variant MELA-AU 2 24535637 24535637 single base substitution G A intron_variant MELA-AU 2 24535810 24535810 single base substitution G A intron_variant MELA-AU 2 24536684 24536684 single base substitution A C intron_variant MELA-AU 2 24536778 24536778 single base substitution C T intron_variant MELA-AU 2 24536851 24536852 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 24537025 24537025 single base substitution G A intron_variant MELA-AU 2 24537653 24537653 single base substitution G A intron_variant MELA-AU 2 24537793 24537793 single base substitution G A intron_variant MELA-AU 2 24537966 24537966 single base substitution A C intron_variant MELA-AU 2 24540034 24540034 single base substitution G A intron_variant MELA-AU 2 24540071 24540071 single base substitution G A intron_variant MELA-AU 2 24540289 24540289 single base substitution G A intron_variant MELA-AU 2 24540291 24540291 single base substitution G A intron_variant MELA-AU 2 24540608 24540608 single base substitution G A intron_variant MELA-AU 2 24541235 24541235 single base substitution G A intron_variant MELA-AU 2 24541526 24541526 single base substitution G T intron_variant MELA-AU 2 24541719 24541719 single base substitution A G intron_variant MELA-AU 2 24541776 24541776 single base substitution C T intron_variant MELA-AU 2 24541925 24541925 single base substitution C T intron_variant MELA-AU 2 24542186 24542186 single base substitution G A intron_variant MELA-AU 2 24542212 24542212 single base substitution G A intron_variant MELA-AU 2 24542751 24542751 single base substitution C T intron_variant MELA-AU 2 24542831 24542831 single base substitution G A intron_variant MELA-AU 2 24542961 24542961 single base substitution G A intron_variant MELA-AU 2 24542966 24542966 single base substitution G C intron_variant MELA-AU 2 24543312 24543312 single base substitution C G intron_variant MELA-AU 2 24543382 24543382 single base substitution G A intron_variant MELA-AU 2 24543565 24543565 single base substitution G A intron_variant MELA-AU 2 24543627 24543627 single base substitution A C intron_variant MELA-AU 2 24545178 24545178 single base substitution G A intron_variant MELA-AU 2 24546025 24546025 single base substitution C T intron_variant MELA-AU 2 24546976 24546976 single base substitution C G intron_variant MELA-AU 2 24547077 24547078 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 24547216 24547216 single base substitution G A intron_variant MELA-AU 2 24547531 24547531 single base substitution A C intron_variant MELA-AU 2 24547659 24547659 insertion of <=200bp - T intron_variant MELA-AU 2 24548477 24548477 single base substitution G A intron_variant MELA-AU 2 24549262 24549262 single base substitution G A intron_variant MELA-AU 2 24549357 24549357 single base substitution G A intron_variant MELA-AU 2 24549925 24549925 single base substitution G A intron_variant MELA-AU 2 24550391 24550391 single base substitution C T intron_variant MELA-AU 2 24550536 24550536 single base substitution G A intron_variant MELA-AU 2 24551350 24551350 single base substitution T A intron_variant MELA-AU 2 24551390 24551390 single base substitution G A intron_variant MELA-AU 2 24552019 24552019 single base substitution A C intron_variant MELA-AU 2 24552128 24552128 single base substitution T G intron_variant MELA-AU 2 24552331 24552331 single base substitution G A intron_variant MELA-AU 2 24552566 24552566 single base substitution C A intron_variant MELA-AU 2 24552958 24552958 single base substitution T C intron_variant MELA-AU 2 24553433 24553433 single base substitution G A intron_variant MELA-AU 2 24553488 24553488 single base substitution G A intron_variant MELA-AU 2 24555423 24555423 single base substitution C T intron_variant MELA-AU 2 24556257 24556258 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 24556755 24556755 single base substitution G A intron_variant MELA-AU 2 24556849 24556849 single base substitution C T intron_variant MELA-AU 2 24556991 24556991 single base substitution G A intron_variant MELA-AU 2 24557275 24557275 single base substitution A G intron_variant MELA-AU 2 24557428 24557428 insertion of <=200bp - C intron_variant MELA-AU 2 24557514 24557514 single base substitution G C intron_variant MELA-AU 2 24557678 24557678 single base substitution A G intron_variant MELA-AU 2 24558191 24558191 single base substitution G A intron_variant MELA-AU 2 24558509 24558509 single base substitution G A intron_variant MELA-AU 2 24558927 24558927 single base substitution G A intron_variant MELA-AU 2 24559746 24559746 single base substitution G A intron_variant MELA-AU 2 24559760 24559760 single base substitution A T intron_variant MELA-AU 2 24559964 24559964 single base substitution G A intron_variant MELA-AU 2 24560219 24560219 single base substitution A G intron_variant MELA-AU 2 24560446 24560447 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 24561195 24561195 single base substitution T A intron_variant MELA-AU 2 24561220 24561220 single base substitution G A intron_variant MELA-AU 2 24561221 24561221 single base substitution G A intron_variant MELA-AU 2 24561394 24561394 single base substitution A G intron_variant MELA-AU 2 24561637 24561637 single base substitution G A intron_variant MELA-AU 2 24561719 24561719 single base substitution G A intron_variant MELA-AU 2 24561818 24561834 deletion of <=200bp GTAAGAATTATCTAACA - intron_variant MELA-AU 2 24561862 24561862 single base substitution C T intron_variant MELA-AU 2 24562402 24562402 single base substitution G A intron_variant MELA-AU 2 24562493 24562493 single base substitution C T intron_variant MELA-AU 2 24562540 24562540 single base substitution C T intron_variant MELA-AU 2 24563258 24563258 single base substitution G A intron_variant MELA-AU 2 24563337 24563337 single base substitution G A intron_variant MELA-AU 2 24563624 24563624 single base substitution C A intron_variant MELA-AU 2 24564461 24564461 single base substitution G A intron_variant MELA-AU 2 24564657 24564657 single base substitution A G intron_variant MELA-AU 2 24565580 24565580 single base substitution G A intron_variant MELA-AU 2 24565734 24565735 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 24566075 24566075 single base substitution C T intron_variant MELA-AU 2 24566368 24566368 single base substitution C A intron_variant MELA-AU 2 24567469 24567469 single base substitution G A intron_variant MELA-AU 2 24568412 24568412 single base substitution G A intron_variant MELA-AU 2 24568637 24568637 single base substitution T A intron_variant MELA-AU 2 24568886 24568886 single base substitution C T intron_variant MELA-AU 2 24568925 24568925 single base substitution G A intron_variant MELA-AU 2 24570375 24570375 single base substitution G A intron_variant MELA-AU 2 24570543 24570543 single base substitution G A intron_variant MELA-AU 2 24572028 24572028 single base substitution G A intron_variant MELA-AU 2 24572063 24572063 single base substitution G A intron_variant MELA-AU 2 24572971 24572971 single base substitution G A intron_variant MELA-AU 2 24573031 24573031 single base substitution C A intron_variant MELA-AU 2 24573941 24573941 single base substitution C G intron_variant MELA-AU 2 24576215 24576215 single base substitution A T intron_variant MELA-AU 2 24576364 24576364 single base substitution C T intron_variant MELA-AU 2 24577639 24577639 single base substitution G A intron_variant MELA-AU 2 24579393 24579393 single base substitution G A intron_variant MELA-AU 2 24579819 24579819 single base substitution G A intron_variant MELA-AU 2 24580364 24580364 single base substitution G A intron_variant MELA-AU 2 24580378 24580378 single base substitution G A intron_variant MELA-AU 2 24580918 24580918 single base substitution G A intron_variant MELA-AU 2 24581151 24581151 single base substitution G A intron_variant MELA-AU 2 24581166 24581166 single base substitution A G intron_variant MELA-AU 2 24581205 24581205 single base substitution G A intron_variant MELA-AU 2 24581475 24581475 single base substitution G A intron_variant MELA-AU 2 24582096 24582096 deletion of <=200bp C - intron_variant MELA-AU 2 24582545 24582545 single base substitution G A intron_variant MELA-AU 2 24582890 24582890 single base substitution G A intron_variant MELA-AU 2 24583620 24583620 single base substitution G A upstream_gene_variant MELA-AU 2 24584223 24584223 single base substitution C T upstream_gene_variant MELA-AU 2 24584250 24584250 single base substitution T G upstream_gene_variant MELA-AU 2 24584252 24584252 single base substitution C T upstream_gene_variant MELA-AU 2 24584803 24584803 single base substitution T C upstream_gene_variant MELA-AU 2 24585058 24585058 single base substitution C T upstream_gene_variant MELA-AU 2 24585220 24585220 single base substitution C T upstream_gene_variant MELA-AU 2 24585539 24585539 single base substitution G A upstream_gene_variant MELA-AU 2 24585925 24585925 single base substitution C T upstream_gene_variant MELA-AU 2 24585977 24585977 single base substitution G A upstream_gene_variant MELA-AU 2 24586403 24586403 single base substitution C T upstream_gene_variant MELA-AU 2 24586482 24586482 single base substitution T C upstream_gene_variant MELA-AU 2 24586572 24586572 single base substitution G A upstream_gene_variant MELA-AU 2 24586616 24586616 single base substitution G A upstream_gene_variant MELA-AU 2 24586731 24586731 single base substitution C T upstream_gene_variant MELA-AU 2 24586757 24586757 single base substitution C T upstream_gene_variant MELA-AU 2 24586929 24586929 single base substitution G A upstream_gene_variant MELA-AU 2 24586930 24586930 single base substitution G A upstream_gene_variant MELA-AU 2 24586965 24586965 single base substitution G A upstream_gene_variant MELA-AU 2 24587009 24587009 single base substitution G A upstream_gene_variant MELA-AU 2 24587102 24587102 single base substitution A G upstream_gene_variant MELA-AU 2 24587181 24587181 single base substitution A G upstream_gene_variant MELA-AU 2 24587217 24587217 single base substitution G A upstream_gene_variant MELA-AU 2 24587283 24587283 single base substitution A C upstream_gene_variant MELA-AU 2 24587460 24587460 single base substitution C T upstream_gene_variant MELA-AU 2 24587655 24587655 single base substitution A T upstream_gene_variant MELA-AU 2 24587751 24587751 single base substitution G A upstream_gene_variant MELA-AU 2 24587839 24587839 single base substitution C T upstream_gene_variant MELA-AU 2 24588371 24588371 single base substitution C T upstream_gene_variant MELA-AU 2 24588533 24588533 single base substitution G A upstream_gene_variant ORCA-IN 2 24433665 24433665 single base substitution C A missense_variant C1387F 4160G>T ORCA-IN 2 24433665 24433665 single base substitution C A missense_variant C1414F 4241G>T ORCA-IN 2 24433665 24433665 single base substitution C A upstream_gene_variant ORCA-IN 2 24440861 24440861 single base substitution C G downstream_gene_variant ORCA-IN 2 24440861 24440861 single base substitution C G missense_variant E1214Q 3640G>C ORCA-IN 2 24440861 24440861 single base substitution C G missense_variant E1241Q 3721G>C ORCA-IN 2 24441164 24441164 single base substitution G A downstream_gene_variant ORCA-IN 2 24441164 24441164 single base substitution G A intron_variant ORCA-IN 2 24477333 24477333 single base substitution C T intron_variant ORCA-IN 2 24505885 24505885 single base substitution C A downstream_gene_variant ORCA-IN 2 24505885 24505885 single base substitution C A intron_variant ORCA-IN 2 24523318 24523318 single base substitution G A intron_variant ORCA-IN 2 24523318 24523318 single base substitution G A upstream_gene_variant ORCA-IN 2 24535144 24535144 single base substitution C A exon_variant ORCA-IN 2 24535144 24535144 single base substitution C A missense_variant V83L 247G>T ORCA-IN 2 24535144 24535144 single base substitution C A missense_variant V97L 289G>T OV-AU 2 24424628 24424628 single base substitution C G downstream_gene_variant OV-AU 2 24426072 24426072 single base substitution A C 3_prime_UTR_variant OV-AU 2 24426072 24426072 single base substitution A C downstream_gene_variant OV-AU 2 24426072 24426072 single base substitution A C exon_variant OV-AU 2 24428495 24428495 single base substitution G A exon_variant OV-AU 2 24428495 24428495 single base substitution G A intron_variant OV-AU 2 24428985 24428985 single base substitution G C intron_variant OV-AU 2 24428985 24428985 single base substitution G C upstream_gene_variant OV-AU 2 24437181 24437181 single base substitution T G intron_variant OV-AU 2 24437181 24437181 single base substitution T G upstream_gene_variant OV-AU 2 24440356 24440356 single base substitution C A downstream_gene_variant OV-AU 2 24440356 24440356 single base substitution C A intron_variant OV-AU 2 24444785 24444785 single base substitution A G intron_variant OV-AU 2 24460893 24460893 single base substitution C A downstream_gene_variant OV-AU 2 24460893 24460893 single base substitution C A intron_variant OV-AU 2 24461140 24461140 single base substitution G T downstream_gene_variant OV-AU 2 24461140 24461140 single base substitution G T intron_variant OV-AU 2 24461571 24461571 single base substitution A G downstream_gene_variant OV-AU 2 24461571 24461571 single base substitution A G intron_variant OV-AU 2 24462270 24462270 single base substitution T C 3_prime_UTR_variant OV-AU 2 24462270 24462270 single base substitution T C intron_variant OV-AU 2 24465388 24465388 single base substitution C T intron_variant OV-AU 2 24470044 24470044 single base substitution G C intron_variant OV-AU 2 24483349 24483349 single base substitution G T intron_variant OV-AU 2 24486686 24486686 single base substitution T G intron_variant OV-AU 2 24489508 24489508 single base substitution G C intron_variant OV-AU 2 24492793 24492793 single base substitution A T intron_variant OV-AU 2 24499654 24499654 single base substitution A T intron_variant OV-AU 2 24501876 24501876 single base substitution T C intron_variant OV-AU 2 24502490 24502490 single base substitution C T intron_variant OV-AU 2 24504979 24504979 single base substitution T C downstream_gene_variant OV-AU 2 24504979 24504979 single base substitution T C intron_variant OV-AU 2 24508925 24508925 single base substitution T C downstream_gene_variant OV-AU 2 24508925 24508925 single base substitution T C intron_variant OV-AU 2 24514315 24514315 single base substitution C T downstream_gene_variant OV-AU 2 24514315 24514315 single base substitution C T intron_variant OV-AU 2 24520197 24520197 single base substitution A G intron_variant OV-AU 2 24520197 24520197 single base substitution A G upstream_gene_variant OV-AU 2 24525692 24525692 single base substitution A C intron_variant OV-AU 2 24530964 24530964 single base substitution C G downstream_gene_variant OV-AU 2 24530964 24530964 single base substitution C G intron_variant OV-AU 2 24531424 24531424 single base substitution C G downstream_gene_variant OV-AU 2 24531424 24531424 single base substitution C G intron_variant OV-AU 2 24539075 24539075 single base substitution T C intron_variant OV-AU 2 24539319 24539319 single base substitution T C intron_variant OV-AU 2 24545588 24545588 single base substitution A G intron_variant OV-AU 2 24549712 24549712 single base substitution T A intron_variant OV-AU 2 24560780 24560780 single base substitution T G intron_variant OV-AU 2 24562829 24562829 single base substitution C T intron_variant OV-AU 2 24568912 24568912 single base substitution C A intron_variant OV-US 2 24433676 24433676 single base substitution C T synonymous_variant A1383A 4149G>A OV-US 2 24433676 24433676 single base substitution C T synonymous_variant A1410A 4230G>A OV-US 2 24433676 24433676 single base substitution C T upstream_gene_variant PACA-AU 2 24421595 24421595 single base substitution G A downstream_gene_variant PACA-AU 2 24423831 24423831 single base substitution C T downstream_gene_variant PACA-AU 2 24424333 24424333 single base substitution G A downstream_gene_variant PACA-AU 2 24432863 24432863 single base substitution G A exon_variant PACA-AU 2 24432863 24432863 single base substitution G A missense_variant R1406W 4216C>T PACA-AU 2 24432863 24432863 single base substitution G A missense_variant R1433W 4297C>T PACA-AU 2 24432863 24432863 single base substitution G A upstream_gene_variant PACA-AU 2 24438681 24438681 single base substitution A T downstream_gene_variant PACA-AU 2 24438681 24438681 single base substitution A T intron_variant PACA-AU 2 24440646 24440646 single base substitution A G downstream_gene_variant PACA-AU 2 24440646 24440646 single base substitution A G intron_variant PACA-AU 2 24458276 24458276 single base substitution C T downstream_gene_variant PACA-AU 2 24458276 24458276 single base substitution C T intron_variant PACA-AU 2 24463873 24463873 single base substitution G C 3_prime_UTR_variant PACA-AU 2 24463873 24463873 single base substitution G C intron_variant PACA-AU 2 24473019 24473019 single base substitution T A intron_variant PACA-AU 2 24473019 24473019 single base substitution T A upstream_gene_variant PACA-AU 2 24474666 24474666 single base substitution C T intron_variant PACA-AU 2 24474666 24474666 single base substitution C T upstream_gene_variant PACA-AU 2 24485030 24485030 single base substitution A G intron_variant PACA-AU 2 24485250 24485250 single base substitution T C intron_variant PACA-AU 2 24487430 24487430 single base substitution G A intron_variant PACA-AU 2 24492866 24492866 single base substitution A T intron_variant PACA-AU 2 24492943 24492943 single base substitution G A intron_variant PACA-AU 2 24493343 24493343 single base substitution C A intron_variant PACA-AU 2 24495632 24495632 single base substitution C A intron_variant PACA-AU 2 24498561 24498561 single base substitution T C intron_variant PACA-AU 2 24505766 24505766 single base substitution T C downstream_gene_variant PACA-AU 2 24505766 24505766 single base substitution T C intron_variant PACA-AU 2 24513991 24513991 single base substitution G C downstream_gene_variant PACA-AU 2 24513991 24513991 single base substitution G C intron_variant PACA-AU 2 24522359 24522359 single base substitution C T intron_variant PACA-AU 2 24522359 24522359 single base substitution C T upstream_gene_variant PACA-AU 2 24523053 24523053 single base substitution T C intron_variant PACA-AU 2 24523053 24523053 single base substitution T C upstream_gene_variant PACA-AU 2 24528889 24528889 single base substitution C G downstream_gene_variant PACA-AU 2 24528889 24528889 single base substitution C G intron_variant PACA-AU 2 24533406 24533406 single base substitution C T downstream_gene_variant PACA-AU 2 24533406 24533406 single base substitution C T missense_variant G156R 466G>A PACA-AU 2 24533406 24533406 single base substitution C T missense_variant G170R 508G>A PACA-AU 2 24538661 24538661 single base substitution G A intron_variant PACA-AU 2 24538920 24538920 single base substitution G A intron_variant PACA-AU 2 24542671 24542671 single base substitution C A intron_variant PACA-AU 2 24542724 24542724 single base substitution G T intron_variant PACA-AU 2 24542733 24542733 single base substitution C T intron_variant PACA-AU 2 24546709 24546709 single base substitution G C intron_variant PACA-AU 2 24548097 24548097 single base substitution G A intron_variant PACA-AU 2 24554419 24554419 single base substitution G C intron_variant PACA-AU 2 24557358 24557358 single base substitution G C intron_variant PACA-AU 2 24560205 24560205 single base substitution A G intron_variant PACA-AU 2 24570197 24570197 single base substitution C A intron_variant PACA-AU 2 24577657 24577657 insertion of <=200bp - A intron_variant PACA-AU 2 24580753 24580754 deletion of <=200bp AT - intron_variant PACA-CA 2 24421026 24421026 single base substitution C T downstream_gene_variant PACA-CA 2 24421117 24421117 single base substitution C A downstream_gene_variant PACA-CA 2 24424880 24424880 single base substitution C T downstream_gene_variant PACA-CA 2 24428427 24428427 single base substitution C T exon_variant PACA-CA 2 24428427 24428427 single base substitution C T intron_variant PACA-CA 2 24428977 24428977 single base substitution A G intron_variant PACA-CA 2 24428977 24428977 single base substitution A G upstream_gene_variant PACA-CA 2 24432344 24432344 single base substitution T C intron_variant PACA-CA 2 24432344 24432344 single base substitution T C upstream_gene_variant PACA-CA 2 24437137 24437137 single base substitution G C intron_variant PACA-CA 2 24437137 24437137 single base substitution G C upstream_gene_variant PACA-CA 2 24439252 24439252 single base substitution T C downstream_gene_variant PACA-CA 2 24439252 24439252 single base substitution T C intron_variant PACA-CA 2 24440870 24440870 single base substitution G A downstream_gene_variant PACA-CA 2 24440870 24440870 single base substitution G A missense_variant R1211C 3631C>T PACA-CA 2 24440870 24440870 single base substitution G A missense_variant R1238C 3712C>T PACA-CA 2 24441449 24441449 insertion of <=200bp - TG downstream_gene_variant PACA-CA 2 24441449 24441449 insertion of <=200bp - TG intron_variant PACA-CA 2 24445510 24445510 single base substitution T A intron_variant PACA-CA 2 24446880 24446880 insertion of <=200bp - A intron_variant PACA-CA 2 24448662 24448662 single base substitution G A intron_variant PACA-CA 2 24454369 24454369 single base substitution A G intron_variant PACA-CA 2 24454765 24454765 single base substitution G A intron_variant PACA-CA 2 24456463 24456463 single base substitution T G intron_variant PACA-CA 2 24458555 24458555 single base substitution T G downstream_gene_variant PACA-CA 2 24458555 24458555 single base substitution T G intron_variant PACA-CA 2 24458709 24458709 single base substitution T A downstream_gene_variant PACA-CA 2 24458709 24458709 single base substitution T A intron_variant PACA-CA 2 24458711 24458711 single base substitution A G downstream_gene_variant PACA-CA 2 24458711 24458711 single base substitution A G intron_variant PACA-CA 2 24462736 24462736 single base substitution G A 3_prime_UTR_variant PACA-CA 2 24462736 24462736 single base substitution G A intron_variant PACA-CA 2 24463353 24463353 single base substitution T A 3_prime_UTR_variant PACA-CA 2 24463353 24463353 single base substitution T A intron_variant PACA-CA 2 24463660 24463660 single base substitution G A 3_prime_UTR_variant PACA-CA 2 24463660 24463660 single base substitution G A intron_variant PACA-CA 2 24468361 24468361 single base substitution C T intron_variant PACA-CA 2 24485433 24485433 single base substitution C A intron_variant PACA-CA 2 24485843 24485843 single base substitution C A intron_variant PACA-CA 2 24487174 24487174 single base substitution C A intron_variant PACA-CA 2 24488169 24488169 single base substitution C G intron_variant PACA-CA 2 24493570 24493570 single base substitution C G missense_variant E748D 2244G>C PACA-CA 2 24493570 24493570 single base substitution C G missense_variant E775D 2325G>C PACA-CA 2 24500688 24500688 single base substitution G C intron_variant PACA-CA 2 24501584 24501584 single base substitution G A intron_variant PACA-CA 2 24501755 24501755 single base substitution A C intron_variant PACA-CA 2 24502880 24502880 single base substitution C T intron_variant PACA-CA 2 24504045 24504045 single base substitution G A intron_variant PACA-CA 2 24505707 24505707 single base substitution G A downstream_gene_variant PACA-CA 2 24505707 24505707 single base substitution G A intron_variant PACA-CA 2 24513848 24513848 single base substitution A G downstream_gene_variant PACA-CA 2 24513848 24513848 single base substitution A G intron_variant PACA-CA 2 24514236 24514236 single base substitution G T downstream_gene_variant PACA-CA 2 24514236 24514236 single base substitution G T intron_variant PACA-CA 2 24515817 24515817 single base substitution A G downstream_gene_variant PACA-CA 2 24515817 24515817 single base substitution A G intron_variant PACA-CA 2 24519149 24519149 single base substitution C A intron_variant PACA-CA 2 24519149 24519149 single base substitution C A upstream_gene_variant PACA-CA 2 24522500 24522500 single base substitution A C intron_variant PACA-CA 2 24522500 24522500 single base substitution A C upstream_gene_variant PACA-CA 2 24524111 24524111 deletion of <=200bp A - splice_region_variant PACA-CA 2 24527922 24527922 single base substitution T C intron_variant PACA-CA 2 24532249 24532249 single base substitution G A downstream_gene_variant PACA-CA 2 24532249 24532249 single base substitution G A intron_variant PACA-CA 2 24533087 24533087 single base substitution A C downstream_gene_variant PACA-CA 2 24533087 24533087 single base substitution A C intron_variant PACA-CA 2 24533400 24533400 insertion of <=200bp - G downstream_gene_variant PACA-CA 2 24533400 24533400 insertion of <=200bp - G frameshift_variant A158A? PACA-CA 2 24533400 24533400 insertion of <=200bp - G frameshift_variant A172A? PACA-CA 2 24534818 24534818 single base substitution G A intron_variant PACA-CA 2 24547104 24547104 insertion of <=200bp - AAATT intron_variant PACA-CA 2 24547954 24547954 single base substitution T C intron_variant PACA-CA 2 24553186 24553186 single base substitution C A intron_variant PACA-CA 2 24555215 24555215 single base substitution G T intron_variant PACA-CA 2 24556719 24556719 single base substitution C T intron_variant PACA-CA 2 24558377 24558377 deletion of <=200bp T - intron_variant PACA-CA 2 24562454 24562454 insertion of <=200bp - G intron_variant PACA-CA 2 24562830 24562830 single base substitution G C intron_variant PACA-CA 2 24568278 24568278 single base substitution A T intron_variant PACA-CA 2 24571778 24571778 insertion of <=200bp - A intron_variant PACA-CA 2 24578549 24578549 deletion of <=200bp T - intron_variant PACA-CA 2 24580959 24580959 deletion of <=200bp T - intron_variant PACA-CA 2 24584755 24584755 single base substitution T C upstream_gene_variant PAEN-AU 2 24421992 24421992 single base substitution A G downstream_gene_variant PAEN-AU 2 24433642 24433642 single base substitution G A splice_region_variant PAEN-AU 2 24433642 24433642 single base substitution G A upstream_gene_variant PAEN-AU 2 24444208 24444208 single base substitution A C intron_variant PAEN-AU 2 24475981 24475981 single base substitution C T intron_variant PAEN-AU 2 24475981 24475981 single base substitution C T upstream_gene_variant PAEN-AU 2 24567211 24567211 single base substitution T C intron_variant PAEN-IT 2 24430359 24430359 single base substitution G A intron_variant PAEN-IT 2 24430359 24430359 single base substitution G A upstream_gene_variant PAEN-IT 2 24448756 24448756 single base substitution G T intron_variant PAEN-IT 2 24515974 24515974 single base substitution T C downstream_gene_variant PAEN-IT 2 24515974 24515974 single base substitution T C intron_variant PAEN-IT 2 24534306 24534306 single base substitution C T downstream_gene_variant PAEN-IT 2 24534306 24534306 single base substitution C T intron_variant PBCA-DE 2 24449596 24449596 single base substitution G A intron_variant PBCA-DE 2 24453712 24453712 single base substitution T G intron_variant PBCA-DE 2 24486753 24486753 single base substitution A T intron_variant PBCA-DE 2 24487118 24487118 single base substitution G C intron_variant PBCA-DE 2 24500031 24500031 single base substitution G A intron_variant PBCA-DE 2 24533411 24533411 single base substitution G T downstream_gene_variant PBCA-DE 2 24533411 24533411 single base substitution G T missense_variant P154Q 461C>A PBCA-DE 2 24533411 24533411 single base substitution G T missense_variant P168Q 503C>A PBCA-DE 2 24533932 24533933 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 2 24533932 24533933 deletion of <=200bp AC - intron_variant PBCA-DE 2 24547084 24547087 deletion of <=200bp GAGC - intron_variant PBCA-DE 2 24548280 24548280 insertion of <=200bp - A intron_variant PBCA-DE 2 24551337 24551337 deletion of <=200bp T - intron_variant PBCA-DE 2 24556261 24556261 single base substitution A G intron_variant PBCA-DE 2 24564598 24564598 single base substitution C T intron_variant PBCA-DE 2 24579424 24579424 single base substitution T C intron_variant PRAD-CA 2 24432541 24432541 single base substitution T C intron_variant PRAD-CA 2 24432541 24432541 single base substitution T C upstream_gene_variant PRAD-CA 2 24447193 24447193 single base substitution T C intron_variant PRAD-CA 2 24451446 24451446 single base substitution A G intron_variant PRAD-CA 2 24456547 24456547 single base substitution G C intron_variant PRAD-CA 2 24458219 24458219 single base substitution A G downstream_gene_variant PRAD-CA 2 24458219 24458219 single base substitution A G intron_variant PRAD-CA 2 24467364 24467364 single base substitution T G intron_variant PRAD-CA 2 24488696 24488696 single base substitution T C intron_variant PRAD-CA 2 24523758 24523758 single base substitution C T intron_variant PRAD-CA 2 24546651 24546651 single base substitution T A intron_variant PRAD-CA 2 24556936 24556936 single base substitution T C intron_variant PRAD-CA 2 24559164 24559164 single base substitution A C intron_variant PRAD-CA 2 24567580 24567580 single base substitution G C intron_variant PRAD-CA 2 24585090 24585090 single base substitution C A upstream_gene_variant PRAD-UK 2 24436208 24436208 single base substitution C T intron_variant PRAD-UK 2 24436208 24436208 single base substitution C T upstream_gene_variant PRAD-UK 2 24444319 24444320 deletion of <=200bp CA - intron_variant PRAD-UK 2 24444320 24444320 single base substitution A T intron_variant PRAD-UK 2 24444708 24444708 deletion of <=200bp A - intron_variant PRAD-UK 2 24446920 24446920 single base substitution G A intron_variant PRAD-UK 2 24471444 24471444 single base substitution G A intron_variant PRAD-UK 2 24478950 24478950 single base substitution G A intron_variant PRAD-UK 2 24484800 24484800 single base substitution T G intron_variant PRAD-UK 2 24490096 24490096 single base substitution G C intron_variant PRAD-UK 2 24494310 24494310 single base substitution A C intron_variant PRAD-UK 2 24503889 24503889 single base substitution A G intron_variant PRAD-UK 2 24518366 24518366 single base substitution C T intron_variant PRAD-UK 2 24527646 24527646 single base substitution G A intron_variant PRAD-UK 2 24531508 24531508 single base substitution T C downstream_gene_variant PRAD-UK 2 24531508 24531508 single base substitution T C synonymous_variant K257K 771A>G PRAD-UK 2 24531508 24531508 single base substitution T C synonymous_variant K282K 846A>G PRAD-UK 2 24532026 24532026 single base substitution G A downstream_gene_variant PRAD-UK 2 24532026 24532026 single base substitution G A intron_variant PRAD-UK 2 24537063 24537063 single base substitution C T intron_variant PRAD-UK 2 24537516 24537516 single base substitution G C intron_variant PRAD-UK 2 24541405 24541405 single base substitution A C intron_variant PRAD-UK 2 24549771 24549771 single base substitution A G intron_variant PRAD-UK 2 24554466 24554466 single base substitution A G intron_variant PRAD-UK 2 24557123 24557123 single base substitution T A intron_variant PRAD-UK 2 24570951 24570951 single base substitution A C intron_variant PRAD-UK 2 24581987 24581990 deletion of <=200bp TGTC - intron_variant PRAD-US 2 24432816 24432816 single base substitution C A 5_prime_UTR_variant PRAD-US 2 24432816 24432816 single base substitution C A exon_variant PRAD-US 2 24432816 24432816 single base substitution C A missense_variant K1421N 4263G>T PRAD-US 2 24432816 24432816 single base substitution C A missense_variant K1448N 4344G>T PRAD-US 2 24432816 24432816 single base substitution C A upstream_gene_variant PRAD-US 2 24483975 24483975 single base substitution C A missense_variant Q867H 2601G>T PRAD-US 2 24483975 24483975 single base substitution C A missense_variant Q894H 2682G>T READ-US 2 24432766 24432766 single base substitution A G exon_variant READ-US 2 24432766 24432766 single base substitution A G missense_variant V1438A 4313T>C READ-US 2 24432766 24432766 single base substitution A G missense_variant V1465A 4394T>C READ-US 2 24432766 24432766 single base substitution A G upstream_gene_variant READ-US 2 24440870 24440870 single base substitution G A downstream_gene_variant READ-US 2 24440870 24440870 single base substitution G A missense_variant R1211C 3631C>T READ-US 2 24440870 24440870 single base substitution G A missense_variant R1238C 3712C>T RECA-EU 2 24465695 24465695 single base substitution G C intron_variant RECA-EU 2 24472550 24472550 single base substitution T A intron_variant RECA-EU 2 24472550 24472550 single base substitution T A upstream_gene_variant RECA-EU 2 24487983 24487983 single base substitution T C intron_variant RECA-EU 2 24497672 24497672 single base substitution C T intron_variant RECA-EU 2 24503227 24503227 single base substitution C A intron_variant RECA-EU 2 24518169 24518169 single base substitution G T intron_variant RECA-EU 2 24519424 24519424 single base substitution G A intron_variant RECA-EU 2 24519424 24519424 single base substitution G A upstream_gene_variant RECA-EU 2 24520622 24520622 single base substitution C T intron_variant RECA-EU 2 24520622 24520622 single base substitution C T upstream_gene_variant RECA-EU 2 24530656 24530656 single base substitution G A downstream_gene_variant RECA-EU 2 24530656 24530656 single base substitution G A intron_variant RECA-EU 2 24531187 24531187 single base substitution A G downstream_gene_variant RECA-EU 2 24531187 24531187 single base substitution A G intron_variant RECA-EU 2 24542989 24542989 single base substitution T A intron_variant RECA-EU 2 24548251 24548251 single base substitution C G intron_variant RECA-EU 2 24561743 24561743 single base substitution C T intron_variant RECA-EU 2 24563452 24563452 single base substitution C G intron_variant RECA-EU 2 24565411 24565411 single base substitution A T intron_variant RECA-EU 2 24582039 24582039 single base substitution T C intron_variant RECA-EU 2 24582049 24582049 single base substitution T C intron_variant SKCA-BR 2 24421956 24421956 single base substitution G A downstream_gene_variant SKCA-BR 2 24421957 24421957 single base substitution G A downstream_gene_variant SKCA-BR 2 24425620 24425620 single base substitution A G downstream_gene_variant SKCA-BR 2 24426232 24426232 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 24426232 24426232 single base substitution G A downstream_gene_variant SKCA-BR 2 24426232 24426232 single base substitution G A exon_variant SKCA-BR 2 24426985 24426985 single base substitution G A downstream_gene_variant SKCA-BR 2 24426985 24426985 single base substitution G A exon_variant SKCA-BR 2 24426985 24426985 single base substitution G A intron_variant SKCA-BR 2 24432508 24432508 single base substitution T G intron_variant SKCA-BR 2 24432508 24432508 single base substitution T G upstream_gene_variant SKCA-BR 2 24432513 24432513 single base substitution A G intron_variant SKCA-BR 2 24432513 24432513 single base substitution A G upstream_gene_variant SKCA-BR 2 24436128 24436128 single base substitution C T intron_variant SKCA-BR 2 24436128 24436128 single base substitution C T upstream_gene_variant SKCA-BR 2 24438527 24438527 single base substitution T A downstream_gene_variant SKCA-BR 2 24438527 24438527 single base substitution T A intron_variant SKCA-BR 2 24443503 24443503 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 24443503 24443503 single base substitution C T intron_variant SKCA-BR 2 24443504 24443504 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 24443504 24443504 single base substitution C T intron_variant SKCA-BR 2 24449958 24449958 single base substitution C T intron_variant SKCA-BR 2 24450875 24450875 single base substitution G A intron_variant SKCA-BR 2 24453879 24453879 insertion of <=200bp - ACCC intron_variant SKCA-BR 2 24458198 24458198 single base substitution G A downstream_gene_variant SKCA-BR 2 24458198 24458198 single base substitution G A intron_variant SKCA-BR 2 24458425 24458425 single base substitution G A downstream_gene_variant SKCA-BR 2 24458425 24458425 single base substitution G A intron_variant SKCA-BR 2 24464241 24464241 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 24464241 24464241 single base substitution G A intron_variant SKCA-BR 2 24465737 24465737 single base substitution T A intron_variant SKCA-BR 2 24465745 24465745 single base substitution A C intron_variant SKCA-BR 2 24467318 24467318 single base substitution G A intron_variant SKCA-BR 2 24471759 24471759 single base substitution G A splice_region_variant SKCA-BR 2 24471759 24471759 single base substitution G A upstream_gene_variant SKCA-BR 2 24473311 24473311 single base substitution T C intron_variant SKCA-BR 2 24473311 24473311 single base substitution T C upstream_gene_variant SKCA-BR 2 24473774 24473774 single base substitution G C intron_variant SKCA-BR 2 24473774 24473774 single base substitution G C upstream_gene_variant SKCA-BR 2 24474179 24474179 insertion of <=200bp - AAAGAAAAAATAAAAAAT intron_variant SKCA-BR 2 24474179 24474179 insertion of <=200bp - AAAGAAAAAATAAAAAAT upstream_gene_variant SKCA-BR 2 24474180 24474180 insertion of <=200bp - AAG intron_variant SKCA-BR 2 24474180 24474180 insertion of <=200bp - AAG upstream_gene_variant SKCA-BR 2 24480833 24480833 single base substitution C A stop_gained E911* 2731G>T SKCA-BR 2 24480833 24480833 single base substitution C A stop_gained E938* 2812G>T SKCA-BR 2 24491927 24491928 deletion of <=200bp GT - intron_variant SKCA-BR 2 24492329 24492329 single base substitution A G intron_variant SKCA-BR 2 24496930 24496930 single base substitution G A intron_variant SKCA-BR 2 24504033 24504033 single base substitution G A intron_variant SKCA-BR 2 24506881 24506881 single base substitution T C downstream_gene_variant SKCA-BR 2 24506881 24506881 single base substitution T C intron_variant SKCA-BR 2 24512215 24512215 single base substitution A G downstream_gene_variant SKCA-BR 2 24512215 24512215 single base substitution A G intron_variant SKCA-BR 2 24513996 24513996 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 2 24513996 24513996 insertion of <=200bp - CT intron_variant SKCA-BR 2 24515559 24515559 single base substitution G A downstream_gene_variant SKCA-BR 2 24515559 24515559 single base substitution G A intron_variant SKCA-BR 2 24520014 24520014 single base substitution G A intron_variant SKCA-BR 2 24520014 24520014 single base substitution G A upstream_gene_variant SKCA-BR 2 24521895 24521895 insertion of <=200bp - CT intron_variant SKCA-BR 2 24521895 24521895 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 2 24529157 24529157 single base substitution G A downstream_gene_variant SKCA-BR 2 24529157 24529157 single base substitution G A intron_variant SKCA-BR 2 24529675 24529675 single base substitution A G downstream_gene_variant SKCA-BR 2 24529675 24529675 single base substitution A G intron_variant SKCA-BR 2 24529895 24529895 single base substitution G A downstream_gene_variant SKCA-BR 2 24529895 24529895 single base substitution G A intron_variant SKCA-BR 2 24531100 24531100 single base substitution G A downstream_gene_variant SKCA-BR 2 24531100 24531100 single base substitution G A intron_variant SKCA-BR 2 24531207 24531207 single base substitution G A downstream_gene_variant SKCA-BR 2 24531207 24531207 single base substitution G A intron_variant SKCA-BR 2 24531754 24531754 single base substitution G A downstream_gene_variant SKCA-BR 2 24531754 24531754 single base substitution G A intron_variant SKCA-BR 2 24531754 24531754 single base substitution G A missense_variant P241S 721C>T SKCA-BR 2 24531791 24531791 single base substitution T G downstream_gene_variant SKCA-BR 2 24531791 24531791 single base substitution T G intron_variant SKCA-BR 2 24531791 24531791 single base substitution T G synonymous_variant S228S 684A>C SKCA-BR 2 24533931 24533931 insertion of <=200bp - TAC downstream_gene_variant SKCA-BR 2 24533931 24533931 insertion of <=200bp - TAC intron_variant SKCA-BR 2 24539438 24539438 single base substitution C T intron_variant SKCA-BR 2 24545508 24545508 single base substitution G A intron_variant SKCA-BR 2 24549844 24549844 single base substitution C T intron_variant SKCA-BR 2 24556206 24556206 single base substitution G A intron_variant SKCA-BR 2 24557931 24557940 deletion of <=200bp CAAAAAAAAA - intron_variant SKCA-BR 2 24560200 24560200 single base substitution T C intron_variant SKCA-BR 2 24561473 24561473 single base substitution G A intron_variant SKCA-BR 2 24564744 24564744 single base substitution G T intron_variant SKCA-BR 2 24575566 24575566 single base substitution G A intron_variant SKCA-BR 2 24577867 24577867 single base substitution C T intron_variant SKCA-BR 2 24578997 24578997 single base substitution G A intron_variant SKCA-BR 2 24579086 24579086 single base substitution T A intron_variant SKCA-BR 2 24579232 24579232 single base substitution G A intron_variant SKCA-BR 2 24581963 24581963 single base substitution A G intron_variant SKCA-BR 2 24587493 24587493 single base substitution C T upstream_gene_variant SKCA-BR 2 24588504 24588504 single base substitution T C upstream_gene_variant SKCM-US 2 24426500 24426500 single base substitution G A 3_prime_UTR_variant SKCM-US 2 24426500 24426500 single base substitution G A downstream_gene_variant SKCM-US 2 24426500 24426500 single base substitution G A exon_variant SKCM-US 2 24426500 24426500 single base substitution G A synonymous_variant L1670L 5008C>T SKCM-US 2 24426500 24426500 single base substitution G A synonymous_variant L1697L 5089C>T SKCM-US 2 24428097 24428097 single base substitution G A 3_prime_UTR_variant SKCM-US 2 24428097 24428097 single base substitution G A downstream_gene_variant SKCM-US 2 24428097 24428097 single base substitution G A exon_variant SKCM-US 2 24428097 24428097 single base substitution G A missense_variant A1556V 4667C>T SKCM-US 2 24428097 24428097 single base substitution G A missense_variant A1583V 4748C>T SKCM-US 2 24435576 24435576 single base substitution G A synonymous_variant S1317S 3951C>T SKCM-US 2 24435576 24435576 single base substitution G A synonymous_variant S1344S 4032C>T SKCM-US 2 24435576 24435576 single base substitution G A upstream_gene_variant SKCM-US 2 24438982 24438982 single base substitution A G downstream_gene_variant SKCM-US 2 24438982 24438982 single base substitution A G missense_variant L1282P 3845T>C SKCM-US 2 24438982 24438982 single base substitution A G missense_variant L1309P 3926T>C SKCM-US 2 24469741 24469742 deletion of <=200bp TC - frameshift_variant QK1076 SKCM-US 2 24469741 24469742 deletion of <=200bp TC - frameshift_variant QK1103 SKCM-US 2 24469741 24469742 deletion of <=200bp TC - frameshift_variant QK30 SKCM-US 2 24480778 24480778 single base substitution C T missense_variant G929E 2786G>A SKCM-US 2 24480778 24480778 single base substitution C T missense_variant G956E 2867G>A SKCM-US 2 24483983 24483983 single base substitution G A missense_variant H865Y 2593C>T SKCM-US 2 24483983 24483983 single base substitution G A missense_variant H892Y 2674C>T SKCM-US 2 24498660 24498660 single base substitution T C missense_variant K641R 1922A>G SKCM-US 2 24498660 24498660 single base substitution T C missense_variant K668R 2003A>G SKCM-US 2 24507641 24507641 single base substitution G A downstream_gene_variant SKCM-US 2 24507641 24507641 single base substitution G A intron_variant SKCM-US 2 24507641 24507641 single base substitution G A synonymous_variant L645L 1935C>T SKCM-US 2 24507679 24507679 single base substitution G A downstream_gene_variant SKCM-US 2 24507679 24507679 single base substitution G A intron_variant SKCM-US 2 24507679 24507679 single base substitution G A missense_variant L633F 1897C>T SKCM-US 2 24509190 24509190 single base substitution G A downstream_gene_variant SKCM-US 2 24509190 24509190 single base substitution G A missense_variant S585L 1754C>T SKCM-US 2 24518562 24518562 single base substitution C T exon_variant SKCM-US 2 24518562 24518562 single base substitution C T missense_variant E536K 1606G>A SKCM-US 2 24518562 24518562 single base substitution C T missense_variant E561K 1681G>A SKCM-US 2 24521542 24521542 single base substitution C T missense_variant E496K 1486G>A SKCM-US 2 24521542 24521542 single base substitution C T missense_variant E521K 1561G>A SKCM-US 2 24521542 24521542 single base substitution C T upstream_gene_variant SKCM-US 2 24521638 24521638 single base substitution T C missense_variant R464G 1390A>G SKCM-US 2 24521638 24521638 single base substitution T C missense_variant R489G 1465A>G SKCM-US 2 24521638 24521638 single base substitution T C upstream_gene_variant SKCM-US 2 24522854 24522854 single base substitution T A missense_variant E423V 1268A>T SKCM-US 2 24522854 24522854 single base substitution T A missense_variant E448V 1343A>T SKCM-US 2 24522854 24522854 single base substitution T A upstream_gene_variant SKCM-US 2 24522949 24522949 single base substitution C T synonymous_variant R391R 1173G>A SKCM-US 2 24522949 24522949 single base substitution C T synonymous_variant R416R 1248G>A SKCM-US 2 24522949 24522949 single base substitution C T upstream_gene_variant SKCM-US 2 24523000 24523000 single base substitution C T synonymous_variant G374G 1122G>A SKCM-US 2 24523000 24523000 single base substitution C T synonymous_variant G399G 1197G>A SKCM-US 2 24523000 24523000 single base substitution C T upstream_gene_variant SKCM-US 2 24533432 24533432 single base substitution G A downstream_gene_variant SKCM-US 2 24533432 24533432 single base substitution G A missense_variant S147F 440C>T SKCM-US 2 24533432 24533432 single base substitution G A missense_variant S161F 482C>T SKCM-US 2 24533444 24533444 single base substitution G A downstream_gene_variant SKCM-US 2 24533444 24533444 single base substitution G A missense_variant P143L 428C>T SKCM-US 2 24533444 24533444 single base substitution G A missense_variant P157L 470C>T SKCM-US 2 24533469 24533469 single base substitution G A downstream_gene_variant SKCM-US 2 24533469 24533469 single base substitution G A missense_variant L135F 403C>T SKCM-US 2 24533469 24533469 single base substitution G A missense_variant L149F 445C>T SKCM-US 2 24535101 24535101 single base substitution G A exon_variant SKCM-US 2 24535101 24535101 single base substitution G A missense_variant P111L 332C>T SKCM-US 2 24535101 24535101 single base substitution G A missense_variant P97L 290C>T SKCM-US 2 24536370 24536370 single base substitution G A exon_variant SKCM-US 2 24536370 24536370 single base substitution G A synonymous_variant F35F 105C>T SKCM-US 2 24536370 24536370 single base substitution G A synonymous_variant F49F 147C>T STAD-US 2 24426495 24426495 single base substitution C A 3_prime_UTR_variant STAD-US 2 24426495 24426495 single base substitution C A downstream_gene_variant STAD-US 2 24426495 24426495 single base substitution C A exon_variant STAD-US 2 24426495 24426495 single base substitution C A stop_lost *1671Y 5013G>T STAD-US 2 24426495 24426495 single base substitution C A stop_lost *1698Y 5094G>T STAD-US 2 24480829 24480829 single base substitution A G missense_variant V912A 2735T>C STAD-US 2 24480829 24480829 single base substitution A G missense_variant V939A 2816T>C STAD-US 2 24480916 24480916 single base substitution G A missense_variant T883I 2648C>T STAD-US 2 24480916 24480916 single base substitution G A missense_variant T910I 2729C>T STAD-US 2 24480952 24480952 single base substitution A G missense_variant V871A 2612T>C STAD-US 2 24480952 24480952 single base substitution A G missense_variant V898A 2693T>C STAD-US 2 24483988 24483988 single base substitution G T missense_variant P863H 2588C>A STAD-US 2 24483988 24483988 single base substitution G T missense_variant P890H 2669C>A STAD-US 2 24484521 24484521 deletion of <=200bp T - frameshift_variant M789 STAD-US 2 24484521 24484521 deletion of <=200bp T - frameshift_variant M816 STAD-US 2 24484596 24484596 single base substitution C T missense_variant V764I 2290G>A STAD-US 2 24484596 24484596 single base substitution C T missense_variant V791I 2371G>A STAD-US 2 24484599 24484599 deletion of <=200bp T - frameshift_variant T763 STAD-US 2 24484599 24484599 deletion of <=200bp T - frameshift_variant T790 STAD-US 2 24493619 24493619 single base substitution A G missense_variant L732S 2195T>C STAD-US 2 24493619 24493619 single base substitution A G missense_variant L759S 2276T>C STAD-US 2 24494710 24494710 deletion of <=200bp T - frameshift_variant I701 STAD-US 2 24494710 24494710 deletion of <=200bp T - frameshift_variant I728 STAD-US 2 24494722 24494722 deletion of <=200bp T - frameshift_variant T697 STAD-US 2 24494722 24494722 deletion of <=200bp T - frameshift_variant T724 STAD-US 2 24507636 24507636 single base substitution A C downstream_gene_variant STAD-US 2 24507636 24507636 single base substitution A C intron_variant STAD-US 2 24507636 24507636 single base substitution A C missense_variant L647R 1940T>G STAD-US 2 24509095 24509095 insertion of <=200bp - A downstream_gene_variant STAD-US 2 24509095 24509095 insertion of <=200bp - A frameshift_variant N617I? STAD-US 2 24509096 24509096 insertion of <=200bp - A downstream_gene_variant STAD-US 2 24509096 24509096 insertion of <=200bp - A frameshift_variant F616F? STAD-US 2 24509160 24509160 single base substitution A C downstream_gene_variant STAD-US 2 24509160 24509160 single base substitution A C missense_variant L595R 1784T>G STAD-US 2 24521655 24521655 single base substitution C T missense_variant R458H 1373G>A STAD-US 2 24521655 24521655 single base substitution C T missense_variant R483H 1448G>A STAD-US 2 24521655 24521655 single base substitution C T upstream_gene_variant STAD-US 2 24523025 24523025 single base substitution T G missense_variant K366T 1097A>C STAD-US 2 24523025 24523025 single base substitution T G missense_variant K391T 1172A>C STAD-US 2 24523025 24523025 single base substitution T G upstream_gene_variant STAD-US 2 24524111 24524111 deletion of <=200bp A - splice_region_variant STAD-US 2 24524945 24524945 single base substitution C T missense_variant G295E 884G>A STAD-US 2 24524945 24524945 single base substitution C T missense_variant G320E 959G>A STAD-US 2 24533475 24533475 single base substitution T A downstream_gene_variant STAD-US 2 24533475 24533475 single base substitution T A missense_variant T133S 397A>T STAD-US 2 24533475 24533475 single base substitution T A missense_variant T147S 439A>T THCA-SA 2 24431184 24431184 single base substitution C T exon_variant THCA-SA 2 24431184 24431184 single base substitution C T missense_variant A1507T 4519G>A THCA-SA 2 24431184 24431184 single base substitution C T missense_variant A1534T 4600G>A THCA-SA 2 24431184 24431184 single base substitution C T upstream_gene_variant THCA-SA 2 24432839 24432839 single base substitution A G exon_variant THCA-SA 2 24432839 24432839 single base substitution A G synonymous_variant L1414L 4240T>C THCA-SA 2 24432839 24432839 single base substitution A G synonymous_variant L1441L 4321T>C THCA-SA 2 24432839 24432839 single base substitution A G upstream_gene_variant THCA-SA 2 24524958 24524958 single base substitution C T missense_variant V291I 871G>A THCA-SA 2 24524958 24524958 single base substitution C T missense_variant V316I 946G>A THCA-SA 2 24533400 24533400 insertion of <=200bp - G downstream_gene_variant THCA-SA 2 24533400 24533400 insertion of <=200bp - G frameshift_variant A158A? THCA-SA 2 24533400 24533400 insertion of <=200bp - G frameshift_variant A172A? UCEC-US 2 24426503 24426503 single base substitution G T 3_prime_UTR_variant UCEC-US 2 24426503 24426503 single base substitution G T downstream_gene_variant UCEC-US 2 24426503 24426503 single base substitution G T exon_variant UCEC-US 2 24426503 24426503 single base substitution G T missense_variant L1669I 5005C>A UCEC-US 2 24426503 24426503 single base substitution G T missense_variant L1696I 5086C>A UCEC-US 2 24426614 24426614 single base substitution G A 3_prime_UTR_variant UCEC-US 2 24426614 24426614 single base substitution G A downstream_gene_variant UCEC-US 2 24426614 24426614 single base substitution G A exon_variant UCEC-US 2 24426614 24426614 single base substitution G A stop_gained R1632* 4894C>T UCEC-US 2 24426614 24426614 single base substitution G A stop_gained R1659* 4975C>T UCEC-US 2 24431123 24431123 single base substitution C T 3_prime_UTR_variant UCEC-US 2 24431123 24431123 single base substitution C T exon_variant UCEC-US 2 24431123 24431123 single base substitution C T missense_variant R1527H 4580G>A UCEC-US 2 24431123 24431123 single base substitution C T missense_variant R1554H 4661G>A UCEC-US 2 24431123 24431123 single base substitution C T upstream_gene_variant UCEC-US 2 24431142 24431142 single base substitution C T 3_prime_UTR_variant UCEC-US 2 24431142 24431142 single base substitution C T exon_variant UCEC-US 2 24431142 24431142 single base substitution C T missense_variant D1521N 4561G>A UCEC-US 2 24431142 24431142 single base substitution C T missense_variant D1548N 4642G>A UCEC-US 2 24431142 24431142 single base substitution C T upstream_gene_variant UCEC-US 2 24431969 24431969 single base substitution C A intron_variant UCEC-US 2 24431969 24431969 single base substitution C A missense_variant R1505M 4514G>T UCEC-US 2 24431969 24431969 single base substitution C A missense_variant R1532M 4595G>T UCEC-US 2 24431969 24431969 single base substitution C A splice_region_variant UCEC-US 2 24431969 24431969 single base substitution C A upstream_gene_variant UCEC-US 2 24432005 24432005 single base substitution C A exon_variant UCEC-US 2 24432005 24432005 single base substitution C A intron_variant UCEC-US 2 24432005 24432005 single base substitution C A missense_variant R1493L 4478G>T UCEC-US 2 24432005 24432005 single base substitution C A missense_variant R1520L 4559G>T UCEC-US 2 24432005 24432005 single base substitution C A upstream_gene_variant UCEC-US 2 24432006 24432006 single base substitution G A exon_variant UCEC-US 2 24432006 24432006 single base substitution G A intron_variant UCEC-US 2 24432006 24432006 single base substitution G A missense_variant R1493W 4477C>T UCEC-US 2 24432006 24432006 single base substitution G A missense_variant R1520W 4558C>T UCEC-US 2 24432006 24432006 single base substitution G A upstream_gene_variant UCEC-US 2 24435522 24435522 single base substitution T C synonymous_variant R1335R 4005A>G UCEC-US 2 24435522 24435522 single base substitution T C synonymous_variant R1362R 4086A>G UCEC-US 2 24435522 24435522 single base substitution T C upstream_gene_variant UCEC-US 2 24440837 24440837 single base substitution C A downstream_gene_variant UCEC-US 2 24440837 24440837 single base substitution C A stop_gained E1222* 3664G>T UCEC-US 2 24440837 24440837 single base substitution C A stop_gained E1249* 3745G>T UCEC-US 2 24443778 24443778 single base substitution G T intron_variant UCEC-US 2 24443778 24443778 single base substitution G T synonymous_variant I1245I 3735C>A UCEC-US 2 24443926 24443926 single base substitution T C missense_variant D1169G 3506A>G UCEC-US 2 24443926 24443926 single base substitution T C missense_variant D1196G 3587A>G UCEC-US 2 24469131 24469131 single base substitution G A synonymous_variant F1121F 3363C>T UCEC-US 2 24469131 24469131 single base substitution G A synonymous_variant F1148F 3444C>T UCEC-US 2 24469131 24469131 single base substitution G A synonymous_variant F75F 225C>T UCEC-US 2 24469747 24469747 single base substitution G A stop_gained R1075* 3223C>T UCEC-US 2 24469747 24469747 single base substitution G A stop_gained R1102* 3304C>T UCEC-US 2 24469747 24469747 single base substitution G A stop_gained R29* 85C>T UCEC-US 2 24475238 24475238 single base substitution G A synonymous_variant N1005N 3015C>T UCEC-US 2 24475238 24475238 single base substitution G A synonymous_variant N1032N 3096C>T UCEC-US 2 24475238 24475238 single base substitution G A upstream_gene_variant UCEC-US 2 24477257 24477257 single base substitution C T missense_variant A951T 2851G>A UCEC-US 2 24477257 24477257 single base substitution C T missense_variant A978T 2932G>A UCEC-US 2 24484069 24484069 single base substitution G T missense_variant S836Y 2507C>A UCEC-US 2 24484069 24484069 single base substitution G T missense_variant S863Y 2588C>A UCEC-US 2 24494740 24494740 single base substitution G A stop_gained R691* 2071C>T UCEC-US 2 24494740 24494740 single base substitution G A stop_gained R718* 2152C>T UCEC-US 2 24498657 24498657 single base substitution C T missense_variant R642H 1925G>A UCEC-US 2 24498657 24498657 single base substitution C T missense_variant R669H 2006G>A UCEC-US 2 24509131 24509131 single base substitution C A downstream_gene_variant UCEC-US 2 24509131 24509131 single base substitution C A stop_gained E605* 1813G>T UCEC-US 2 24509155 24509155 single base substitution C A downstream_gene_variant UCEC-US 2 24509155 24509155 single base substitution C A stop_gained E597* 1789G>T UCEC-US 2 24522933 24522933 single base substitution C T missense_variant A397T 1189G>A UCEC-US 2 24522933 24522933 single base substitution C T missense_variant A422T 1264G>A UCEC-US 2 24522933 24522933 single base substitution C T upstream_gene_variant UCEC-US 2 24522991 24522991 single base substitution C T synonymous_variant E377E 1131G>A UCEC-US 2 24522991 24522991 single base substitution C T synonymous_variant E402E 1206G>A UCEC-US 2 24522991 24522991 single base substitution C T upstream_gene_variant UCEC-US 2 24524861 24524861 deletion of <=200bp G - frameshift_variant P323 UCEC-US 2 24524861 24524861 deletion of <=200bp G - frameshift_variant P348

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T3021 COSM2911172 c.4206G>A p.S1402S Substitution - coding silent 2:24210831-24210831 - PTC-14C COSM4133737 c.2751G>C p.L917F Substitution - Missense 2:24258025-24258025 - WSU-HN13 COSM4601570 c.1656C>G p.I552M Substitution - Missense 2:24293755-24293755 - Pat_41_B COSM5862241 c.4280C>T p.T1427I Substitution - Missense 2:24210011-24210011 - Pat_44_B COSM5862244 c.2825G>A p.G942E Substitution - Missense 2:24257951-24257951 - Pat_63_A COSM5862242 c.4106C>T p.P1369L Substitution - Missense 2:24210931-24210931 - TCGA-CG-5721-01 COSM4093165 c.2816T>C p.V939A Substitution - Missense 2:24257960-24257960 - TCGA-66-2773-01 COSM720806 c.2082G>A p.R694R Substitution - coding silent 2:24271941-24271941 - 353 COSM3722217 c.2372T>C p.V791A Substitution - Missense 2:24261726-24261726 - 2734_T COSM3962677 c.2888+4A>T p.? Unknown 2:24257884-24257884 - 8013142 COSM1158921 c.4297C>T p.R1433W Substitution - Missense 2:24209994-24209994 - TCGA-GN-A26C-01 COSM3580207 c.147C>T p.F49F Substitution - coding silent 2:24313501-24313501 - TCGA-AP-A056-01 COSM1019060 c.4975C>T p.R1659* Substitution - Nonsense 2:24203745-24203745 - Gp5D COSM2911253 c.1899T>C p.L633L Substitution - coding silent 2:24284808-24284808 - CSCC-27-T COSM4491313 c.378C>T p.S126S Substitution - coding silent 2:24310667-24310667 - HCC68 COSM1614649 c.775A>G p.M259V Substitution - Missense 2:24308635-24308635 - TCGA-C8-A1HJ-01 COSM3839124 c.3047A>T p.E1016V Substitution - Missense 2:24252418-24252418 - TCGA-D3-A5GO-06 COSM3580195 c.1754C>T p.S585L Substitution - Missense 2:24286321-24286321 - sysucc-1370T COSM5471538 c.1176G>A p.E392E Substitution - coding silent 2:24300077-24300077 - CHC1731T COSM4792054 c.1944+1G>T p.? Unknown 2:24284762-24284762 - S13_post COSM5574696 c.4415C>G p.S1472C Substitution - Missense 2:24209876-24209876 - TCGA-FU-A3HZ-01 COSM4841088 c.1844C>A p.S615Y Substitution - Missense 2:24286231-24286231 - 585208 COSM325572 c.1924A>T p.N642Y Substitution - Missense 2:24284783-24284783 - CSCC-45-T COSM4504385 c.663C>T p.S221S Substitution - coding silent 2:24308747-24308747 - PD4120a COSM161817 c.4928C>T p.S1643L Substitution - Missense 2:24204253-24204253 - TCGA-EE-A2M5-06 COSM3580189 c.4748C>T p.A1583V Substitution - Missense 2:24205228-24205228 - TCGA-AM-5821-01 COSM148811 c.3860T>C p.I1287T Substitution - Missense 2:24216179-24216179 - CSCC-32-T COSM4483006 c.2660C>T p.S887F Substitution - Missense 2:24261128-24261128 - S02273 COSM5681896 c.124G>C p.G42R Substitution - Missense 2:24315132-24315132 - 16 COSM3735570 c.1366C>T p.R456* Substitution - Nonsense 2:24298793-24298793 - TCGA-60-2698-01 COSM720814 c.4881C>G p.L1627L Substitution - coding silent 2:24204300-24204300 - B80 COSM1752477 c.353-2A>G p.? Unknown 2:24310694-24310694 - CHC1741T COSM4805445 c.4288C>G p.L1430V Substitution - Missense 2:24210003-24210003 - sysucc-311T COSM5465502 c.1502A>C p.K501T Substitution - Missense 2:24295797-24295797 - TCGA-CA-6717-01 COSM1407020 c.3237A>C p.L1079F Substitution - Missense 2:24248680-24248680 - TCGA-BR-4368-01 COSM4093181 c.1373G>A p.R458H Substitution - Missense 2:24298786-24298786 - ESCC-116T COSM3939029 c.562C>T p.P188S Substitution - Missense 2:24310375-24310375 - TCGA-13-1481-01 COSM118898 c.4230G>A p.A1410A Substitution - coding silent 2:24210807-24210807 - TCGA-F5-6814-01 COSM3426319 c.4394T>C p.V1465A Substitution - Missense 2:24209897-24209897 - TCGA-BH-A0HL-01 COSM442659 c.707C>T p.S236L Substitution - Missense 2:24308703-24308703 - TCGA-AA-3663-01 COSM1407014 c.4472C>T p.T1491M Substitution - Missense 2:24209819-24209819 - TCGA-G5-6233-01 COSM2911181 c.3712C>T p.R1238C Substitution - Missense 2:24218001-24218001 - TCGA-D5-6540-01 COSM1407018 c.3305G>A p.R1102Q Substitution - Missense 2:24246877-24246877 - TCGA-BW-A5NP-01 COSM4942676 c.281A>T p.Q94L Substitution - Missense 2:24312283-24312283 - CHC1725T COSM4800845 c.4713G>A p.L1571L Substitution - coding silent 2:24205263-24205263 - TCGA-CA-6717-01 COSM1407024 c.1396C>T p.R466W Substitution - Missense 2:24298763-24298763 - 464 COSM4437037 c.4573C>T p.R1525* Substitution - Nonsense 2:24209122-24209122 - 587278 COSM1211191 c.2881C>T p.R961W Substitution - Missense 2:24257895-24257895 - PD24191a COSM5784516 c.2876T>G p.V959G Substitution - Missense 2:24257900-24257900 - TCGA-DR-A0ZM-01 COSM461066 c.3152C>T p.S1051L Substitution - Missense 2:24248851-24248851 - TCGA-IR-A3LL-01 COSM4849869 c.2020G>A p.E674K Substitution - Missense 2:24275774-24275774 - B106-Tumor COSM3933596 c.2404C>T p.Q802* Substitution - Nonsense 2:24261694-24261694 - TCGA-CD-5801-01 COSM4093183 c.1097A>C p.K366T Substitution - Missense 2:24300156-24300156 - TCGA-AK-3430-01 COSM477201 c.2035A>G p.R679G Substitution - Missense 2:24275759-24275759 - CN-AML-NR-08-Dx COSM148811 c.3860T>C p.I1287T Substitution - Missense 2:24216179-24216179 - TCGA-AP-A0LM-01 COSM1019087 c.3096C>T p.N1032N Substitution - coding silent 2:24252369-24252369 - TCGA-D1-A17H-01 COSM1019107 c.165G>A p.P55P Substitution - coding silent 2:24313483-24313483 - HCC2998 COSM2911259 c.1649A>C p.K550T Substitution - Missense 2:24293762-24293762 - TCGA-37-3783-01 COSM720804 c.888G>A p.Q296Q Substitution - coding silent 2:24302072-24302072 - SWE-47 COSM1180118 c.146_147insT p.L50fs*12 Insertion - Frameshift 2:24313501-24313502 - CAL33 COSM2911181 c.3712C>T p.R1238C Substitution - Missense 2:24218001-24218001 - TCGA-D9-A6EC-06 COSM4402339 c.445C>T p.L149F Substitution - Missense 2:24310600-24310600 - CHC1725T COSM4800845 c.4713G>A p.L1571L Substitution - coding silent 2:24205263-24205263 - CN-AML-08-T COSM148811 c.3860T>C p.I1287T Substitution - Missense 2:24216179-24216179 - T2269 COSM4693672 c.3970G>A p.D1324N Substitution - Missense 2:24216069-24216069 - C086 COSM5532915 c.2839C>T p.P947S Substitution - Missense 2:24257937-24257937 - 8066443 COSM3771844 c.508G>A p.G170R Substitution - Missense 2:24310537-24310537 - TCGA-BR-4257-01 COSM4093171 c.2669C>A p.P890H Substitution - Missense 2:24261119-24261119 - TCGA-EE-A2A5-06 COSM3580188 c.5089C>T p.L1697L Substitution - coding silent 2:24203631-24203631 - ESCC-158T COSM3939026 c.5028G>A p.E1676E Substitution - coding silent 2:24203692-24203692 - 2250149 COSM5030410 c.3819G>T p.V1273V Substitution - coding silent 2:24216220-24216220 - TCGA-AP-A056-01 COSM1019097 c.1813G>T p.E605* Substitution - Nonsense 2:24286262-24286262 - TCGA-FD-A3SM-01 COSM3798845 c.1337G>C p.R446T Substitution - Missense 2:24299916-24299916 - TCGA-FD-A3SM-01 COSM3798849 c.1090G>C p.E364Q Substitution - Missense 2:24300163-24300163 - 435 COSM4433884 c.1155G>C p.L385F Substitution - Missense 2:24300098-24300098 - TCGA-FD-A3SM-01 COSM1407028 c.1217G>A p.R406Q Substitution - Missense 2:24300036-24300036 - TCGA-41-2572-01 COSM3407770 c.4008G>A p.P1336P Substitution - coding silent 2:24212731-24212731 - ESO-717 COSM1242394 c.3461T>A p.I1154N Substitution - Missense 2:24246245-24246245 - GC8_T COSM148811 c.3860T>C p.I1287T Substitution - Missense 2:24216179-24216179 - CRC-06T COSM2911165 c.4596-5C>T p.? Unknown 2:24208324-24208324 - TCGA-BC-A5W4-01 COSM4911510 c.1751A>C p.K584T Substitution - Missense 2:24286324-24286324 - PD4947a COSM3719364 c.2632G>C p.A878P Substitution - Missense 2:24261156-24261156 - CSCC-49-T COSM4486250 c.302C>T p.P101L Substitution - Missense 2:24312262-24312262 - CSCC-20-T COSM4496059 c.4675C>T p.Q1559* Substitution - Nonsense 2:24208240-24208240 - CHC301T COSM3666602 c.2921_2922insA p.P975fs*32 Insertion - Frameshift 2:24254398-24254399 - TCGA-BP-4964-01 COSM477202 c.945A>C p.G315G Substitution - coding silent 2:24302015-24302015 - Gp2D COSM2911253 c.1899T>C p.L633L Substitution - coding silent 2:24284808-24284808 - TCGA-CG-5721-01 COSM4093169 c.2693T>C p.V898A Substitution - Missense 2:24258083-24258083 - ESO01T COSM1172861 c.4429C>G p.L1477V Substitution - Missense 2:24209862-24209862 - STC232 COSM2911233 c.2219G>A p.R740H Substitution - Missense 2:24271804-24271804 - RMS77_ COSM4988372 c.3673A>G p.M1225V Substitution - Missense 2:24220971-24220971 - CSCC-27-T COSM4498930 c.530C>T p.P177L Substitution - Missense 2:24310515-24310515 - CCK81 COSM2911170 c.4229C>T p.A1410V Substitution - Missense 2:24210808-24210808 - SW403 COSM4312082 c.1662G>T p.L554L Substitution - coding silent 2:24293749-24293749 - TCGA-IR-A3LL-01 COSM4849844 c.1374T>C p.R458R Substitution - coding silent 2:24298785-24298785 - CHC1731T COSM4792054 c.1944+1G>T p.? Unknown 2:24284762-24284762 - TCGA-F4-6570-01 COSM1407034 c.812C>T p.A271V Substitution - Missense 2:24303844-24303844 - TCGA-HU-A4H8-01 COSM4093164 c.5094G>T p.*1698Y Nonstop extension 2:24203626-24203626 - TCGA-AM-5821-01 COSM3758146 c.871G>A p.V291I Substitution - Missense 2:24302089-24302089 - TCGA-26-5134-01 COSM2157017 c.824C>T p.S275L Substitution - Missense 2:24303832-24303832 - PD24209a COSM183698 c.67C>T p.R23C Substitution - Missense 2:24315189-24315189 - TCGA-B5-A0K2-01 COSM1019070 c.4559G>T p.R1520L Substitution - Missense 2:24209136-24209136 - TCGA-06-0166 COSM2150183 c.512delC p.A172fs*24 Deletion - Frameshift 2:24310533-24310533 - TCGA-23-1122-01 COSM71228 c.989C>G p.S330C Substitution - Missense 2:24301971-24301971 - PD3451a COSM30206 c.5077C>T p.Q1693* Substitution - Nonsense 2:24203643-24203643 - 44_T COSM3962683 c.186A>G p.I62M Substitution - Missense 2:24313462-24313462 - CSCC-62-T COSM4497386 c.4960C>T p.P1654S Substitution - Missense 2:24203760-24203760 - OSCC-GB_00290111 COSM3713746 c.3721G>C p.E1241Q Substitution - Missense 2:24217992-24217992 - TCGA-AP-A059-01 COSM1019068 c.4595G>T p.R1532M Substitution - Missense 2:24209100-24209100 - LUAD-YINHD COSM350614 c.1519G>T p.G507C Substitution - Missense 2:24295780-24295780 - TCGA-DK-A3IU-01 COSM3798841 c.2471C>T p.A824V Substitution - Missense 2:24261627-24261627 - I2L-P19Tb-Tumor-Biopsy COSM5354314 c.347G>A p.R116H Substitution - Missense 2:24312217-24312217 - Pat_59_B COSM5862240 c.4669G>A p.A1557T Substitution - Missense 2:24208246-24208246 - 8013222 COSM1158599 c.2544T>C p.L848L Substitution - coding silent 2:24261244-24261244 - EOPC-03_tumor COSM3716571 c.2435A>G p.Y812C Substitution - Missense 2:24261663-24261663 - 53M COSM5594726 c.590T>G p.M197R Substitution - Missense 2:24310347-24310347 - PT09_2 COSM1614647 c.1345-4delT p.? Unknown 2:24298818-24298818 - LIM2551 COSM4644430 c.4674C>T p.Y1558Y Substitution - coding silent 2:24208241-24208241 - STC252 COSM4497386 c.4960C>T p.P1654S Substitution - Missense 2:24203760-24203760 - TCGA-BT-A3PJ-01 COSM3798853 c.32-1G>A p.? Unknown 2:24315225-24315225 - sysucc-1028T COSM5469018 c.4147G>A p.E1383K Substitution - Missense 2:24210890-24210890 - SW620 COSM1668755 c.4076T>A p.L1359Q Substitution - Missense 2:24212663-24212663 - TCGA-BR-8081-01 COSM4093185 c.884G>A p.G295E Substitution - Missense 2:24302076-24302076 - SWE-7 COSM1178622 c.4439C>T p.S1480L Substitution - Missense 2:24209852-24209852 - TCGA-AK-3465-01 COSM1494847 c.1232T>A p.L411* Substitution - Nonsense 2:24300021-24300021 - TCGA-AP-A0LM-01 COSM1019072 c.4558C>T p.R1520W Substitution - Missense 2:24209137-24209137 - I2L-P19Tb-Tumor-Organoid COSM5354314 c.347G>A p.R116H Substitution - Missense 2:24312217-24312217 - TCGA-KK-A6DY-01 COSM4879282 c.4344G>T p.K1448N Substitution - Missense 2:24209947-24209947 - HCC4T COSM1614647 c.1345-4delT p.? Unknown 2:24298818-24298818 - 4436_PT COSM5756041 c.4555G>T p.D1519Y Substitution - Missense 2:24209140-24209140 - 587342 COSM1211195 c.544T>C p.Y182H Substitution - Missense 2:24310501-24310501 - CSCC-32-T COSM4547301 c.4198G>A p.E1400K Substitution - Missense 2:24210839-24210839 - TCGA-E2-A109-01 COSM5834423 c.2113_2114insT p.K705fs*5 Insertion - Frameshift 2:24271909-24271910 - TCGA-AP-A0LM-01 COSM1019085 c.3304C>T p.R1102* Substitution - Nonsense 2:24246878-24246878 - HCC067T COSM5824059 c.353G>A p.G118E Substitution - Missense 2:24310692-24310692 - 587222 COSM1211187 c.1750A>C p.K584Q Substitution - Missense 2:24286325-24286325 - CSCC-20-T COSM3580203 c.470C>T p.P157L Substitution - Missense 2:24310575-24310575 - EV005-R6 COSM4410766 c.1081+2delT p.? Unknown 2:24301152-24301152 - B80-13-Tumor COSM1752476 c.4497G>C p.L1499F Substitution - Missense 2:24209198-24209198 - 4436_CLM COSM5756041 c.4555G>T p.D1519Y Substitution - Missense 2:24209140-24209140 - TCGA-D8-A1XK-01 COSM3839130 c.335T>C p.L112S Substitution - Missense 2:24312229-24312229 - CSCC-56-T COSM2911261 c.1633C>T p.Q545* Substitution - Nonsense 2:24295666-24295666 - OSCC-GB_01090111 COSM4886358 c.4241G>T p.C1414F Substitution - Missense 2:24210796-24210796 - CSCC-55-T COSM4549744 c.4818G>A p.R1606R Substitution - coding silent 2:24204363-24204363 - TCGA-DK-A2I6-01 COSM1306625 c.245C>T p.A82V Substitution - Missense 2:24312319-24312319 - TCGA-BR-8591-01 COSM4093179 c.1784T>G p.L595R Substitution - Missense 2:24286291-24286291 - BD121T COSM5514837 c.613A>T p.I205L Substitution - Missense 2:24310324-24310324 - YUSWI COSM1690269 c.1309G>A p.E437K Substitution - Missense 2:24299944-24299944 - TCGA-AP-A056-01 COSM1019105 c.968delC p.P323fs*63 Deletion - Frameshift 2:24301992-24301992 - CSCC-35-T COSM4496294 c.471C>T p.P157P Substitution - coding silent 2:24310574-24310574 - SW620 COSM1668755 c.4076T>A p.L1359Q Substitution - Missense 2:24212663-24212663 - CSCC-16-T COSM4570256 c.24T>A p.A8A Substitution - coding silent 2:24328059-24328059 - PT41 COSM3580195 c.1754C>T p.S585L Substitution - Missense 2:24286321-24286321 - TCGA-A8-A08L-01 COSM442660 c.700G>T p.G234W Substitution - Missense 2:24308710-24308710 - TCGA-D9-A6EC-06 COSM4399940 c.1390A>G p.R464G Substitution - Missense 2:24298769-24298769 - BD235T COSM5501586 c.4574G>A p.R1525Q Substitution - Missense 2:24209121-24209121 - TCGA-ER-A3PL-06 COSM3580197 c.1606G>A p.E536K Substitution - Missense 2:24295693-24295693 - J46_T COSM3962679 c.1282A>T p.K428* Substitution - Nonsense 2:24299971-24299971 - TCGA-BR-6452-01 COSM4093175 c.2276T>C p.L759S Substitution - Missense 2:24270750-24270750 - CHC1035T COSM3668959 c.3407A>G p.Y1136C Substitution - Missense 2:24246299-24246299 - 2521243 COSM5886153 c.551C>T p.S184F Substitution - Missense 2:24310494-24310494 - OSCC-GB_00960111 COSM4885610 c.289G>T p.V97L Substitution - Missense 2:24312275-24312275 - 8068033 COSM1158921 c.4297C>T p.R1433W Substitution - Missense 2:24209994-24209994 - sysucc-774T COSM5461620 c.2889-10T>C p.? Unknown 2:24254441-24254441 - CSCC-41-T COSM4549938 c.4875G>A p.K1625K Substitution - coding silent 2:24204306-24204306 - TCGA-20-1687-01 COSM1326287 c.397C>G p.P133A Substitution - Missense 2:24310648-24310648 - CSCC-45-T COSM4504465 c.665C>T p.S222L Substitution - Missense 2:24308745-24308745 - TCGA-AM-5821-01 COSM3695418 c.4657A>C p.K1553Q Substitution - Missense 2:24208258-24208258 - TCGA-G4-6588-01 COSM1407026 c.1306C>T p.R436* Substitution - Nonsense 2:24299947-24299947 - I2L-P19Tb-Tumor-Biopsy COSM5353874 c.3578-7delT p.? Unknown 2:24221073-24221073 - TCGA-AD-5900-01 COSM1407010 c.4746delA p.A1583fs*86 Deletion - Frameshift 2:24205230-24205230 - 8051718 COSM4138330 c.4257+7C>T p.? Unknown 2:24210773-24210773 - CSCC-57-T COSM4516098 c.157_158GG>AA p.G53N Substitution - Missense 2:24313490-24313491 - CHC1035T COSM3668959 c.3407A>G p.Y1136C Substitution - Missense 2:24246299-24246299 - TCGA-BS-A0UV-01 COSM1019083 c.3444C>T p.F1148F Substitution - coding silent 2:24246262-24246262 - 587394 COSM1211193 c.427G>T p.A143S Substitution - Missense 2:24310618-24310618 - B105-0-Tumor COSM1752479 c.181G>T p.E61* Substitution - Nonsense 2:24313467-24313467 - TCGA-26-5134 COSM2157017 c.824C>T p.S275L Substitution - Missense 2:24303832-24303832 - PD5928a COSM5794058 c.3206C>T p.S1069F Substitution - Missense 2:24248711-24248711 - SJHGG004_D COSM4968979 c.99C>G p.L33L Substitution - coding silent 2:24315157-24315157 - 37M COSM5583649 c.1275C>T p.R425R Substitution - coding silent 2:24299978-24299978 - TCGA-AK-3430-01 COSM477198 c.3489T>C p.D1163D Substitution - coding silent 2:24246217-24246217 - TCGA-BS-A0TJ-01 COSM1019089 c.2932G>A p.A978T Substitution - Missense 2:24254388-24254388 - ESO-640 COSM1255125 c.2928C>T p.T976T Substitution - coding silent 2:24254392-24254392 - TCGA-MH-A55W-01 COSM3991212 c.3384T>C p.P1128P Substitution - coding silent 2:24246798-24246798 - TCGA-D8-A27F-01 COSM1482972 c.2203G>C p.A735P Substitution - Missense 2:24271820-24271820 - TCGA-C8-A12Q-01 COSM442657 c.2516C>G p.S839C Substitution - Missense 2:24261582-24261582 - TCGA-AA-3510-01 COSM1407022 c.1422G>T p.K474N Substitution - Missense 2:24298737-24298737 - I2L-P19Tb-Tumor-Organoid COSM5354398 c.4106C>A p.P1369Q Substitution - Missense 2:24210931-24210931 - SW480 COSM1668755 c.4076T>A p.L1359Q Substitution - Missense 2:24212663-24212663 - TCGA-BR-A4QI-01 COSM4093167 c.2729C>T p.T910I Substitution - Missense 2:24258047-24258047 - LB2241-RCC COSM18231 c.3931G>T p.G1311* Substitution - Nonsense 2:24216108-24216108 - B80-13 COSM1752476 c.4497G>C p.L1499F Substitution - Missense 2:24209198-24209198 - HDC101 COSM4636062 c.2026G>C p.E676Q Substitution - Missense 2:24275768-24275768 - CHC909T COSM4806298 c.189G>T p.W63C Substitution - Missense 2:24312375-24312375 - C086 COSM5532917 c.1823C>T p.S608F Substitution - Missense 2:24286252-24286252 - D-542MG COSM18243 c.4710C>A p.R1570R Substitution - coding silent 2:24205266-24205266 - TCGA-FD-A3SS-01 COSM3798839 c.2666C>T p.S889L Substitution - Missense 2:24261122-24261122 - TCGA-EK-A3GK-01 COSM4853060 c.3362G>C p.R1121T Substitution - Missense 2:24246820-24246820 - TCGA-GD-A3OQ-01 COSM1306623 c.1417C>G p.Q473E Substitution - Missense 2:24298742-24298742 - TCGA-G4-6320-01 COSM3695419 c.3541G>A p.V1181I Substitution - Missense 2:24246165-24246165 - I2L-P19Tb-Tumor-Organoid COSM5353874 c.3578-7delT p.? Unknown 2:24221073-24221073 - CHC301T COSM217244 c.2921_2922insT p.K974fs*33 Insertion - Frameshift 2:24254398-24254399 - TCGA-BP-5195-01 COSM477200 c.2160G>C p.Q720H Substitution - Missense 2:24271863-24271863 - TCGA-EB-A5SG-06 COSM3910064 c.2674C>T p.H892Y Substitution - Missense 2:24261114-24261114 - 169 COSM3729187 c.4682G>A p.R1561H Substitution - Missense 2:24205294-24205294 - SKNEP1 COSM2911181 c.3712C>T p.R1238C Substitution - Missense 2:24218001-24218001 - TCGA-D1-A16Y-01 COSM1019066 c.4642G>A p.D1548N Substitution - Missense 2:24208273-24208273 - 0093_CRUK_PC_0093_T1_DNA COSM4420185 c.771A>G p.K257K Substitution - coding silent 2:24308639-24308639 - TCGA-BH-A0AW-01 COSM442656 c.3503delA p.E1168fs*5 Deletion - Frameshift 2:24246203-24246203 - TCGA-ER-A2NH-06 COSM3580203 c.470C>T p.P157L Substitution - Missense 2:24310575-24310575 - SNUH_G76_S1 COSM4417012 c.5054G>A p.R1685H Substitution - Missense 2:24203666-24203666 - 1517_CLM COSM5756042 c.263T>G p.L88R Substitution - Missense 2:24312301-24312301 - T368 COSM4693677 c.2197C>T p.R733W Substitution - Missense 2:24271826-24271826 - CSCC-41-T COSM4492789 c.4038C>T p.F1346F Substitution - coding silent 2:24212701-24212701 - T3109 COSM4693670 c.4825C>G p.Q1609E Substitution - Missense 2:24204356-24204356 - CHC301T COSM217244 c.2921_2922insT p.K974fs*33 Insertion - Frameshift 2:24254398-24254399 - TCGA-BP-5168-01 COSM477203 c.193T>C p.L65L Substitution - coding silent 2:24312371-24312371 - TCGA-BS-A0UF-01 COSM1019095 c.2006G>A p.R669H Substitution - Missense 2:24275788-24275788 - TCGA-AP-A0LM-01 COSM1019101 c.1189G>A p.A397T Substitution - Missense 2:24300064-24300064 - TCGA-D9-A6EC-06 COSM4405877 c.2867G>A p.G956E Substitution - Missense 2:24257909-24257909 - LUAD-S01315 COSM345308 c.2500C>T p.P834S Substitution - Missense 2:24261598-24261598 - 49M COSM5591411 c.1632T>A p.L544L Substitution - coding silent 2:24295667-24295667 - LUAD-S01345 COSM397198 c.2260G>A p.E754K Substitution - Missense 2:24270766-24270766 - TCGA-29-1766-01 COSM1326289 c.4276C>G p.L1426V Substitution - Missense 2:24210015-24210015 - ESCC_117 COSM5640042 c.1448G>A p.R483K Substitution - Missense 2:24298711-24298711 - RK098_C01 COSM1631933 c.52A>G p.I18V Substitution - Missense 2:24315204-24315204 - TBR01 COSM4167940 c.1609delA p.I537fs*25 Deletion - Frameshift 2:24295690-24295690 - PT55 COSM5941661 c.2497C>T p.P833S Substitution - Missense 2:24261601-24261601 - sysucc-1317T COSM4693677 c.2197C>T p.R733W Substitution - Missense 2:24271826-24271826 - TCGA-C8-A1HJ-01 COSM3839126 c.3046G>T p.E1016* Substitution - Nonsense 2:24252419-24252419 - BD184T COSM5517589 c.2903A>G p.Y968C Substitution - Missense 2:24254417-24254417 - TCGA-D9-A6EC-06 COSM1291481 c.2003A>G p.K668R Substitution - Missense 2:24275791-24275791 - LP6007409-DNA_A01 COSM5953456 c.1345-10_1345-9insG p.? Unknown 2:24298823-24298824 - TCGA-AP-A0LM-01 COSM1019062 c.4661G>A p.R1554H Substitution - Missense 2:24208254-24208254 - pfg036T COSM4746803 c.340delT p.S114fs*24 Deletion - Frameshift 2:24312224-24312224 - TCGA-EE-A2MT-06 COSM3580199 c.1486G>A p.E496K Substitution - Missense 2:24298673-24298673 - 29T COSM3713746 c.3721G>C p.E1241Q Substitution - Missense 2:24217992-24217992 - 783_T COSM3962681 c.565C>A p.H189N Substitution - Missense 2:24310372-24310372 - CSCC-7-T COSM4479876 c.2369C>T p.T790I Substitution - Missense 2:24261729-24261729 - TCGA-G4-6628-01 COSM1407028 c.1217G>A p.R406Q Substitution - Missense 2:24300036-24300036 - TCGA-AP-A0LM-01 COSM1019076 c.3745G>T p.E1249* Substitution - Nonsense 2:24217968-24217968 - PDA_074 COSM148811 c.3860T>C p.I1287T Substitution - Missense 2:24216179-24216179 - TCGA-DK-A3WW-01 COSM3798851 c.1037C>T p.S346L Substitution - Missense 2:24301198-24301198 - TCGA-66-2768-01 COSM720805 c.1074A>T p.K358N Substitution - Missense 2:24301161-24301161 - TCGA-FS-A1ZA-06 COSM3910070 c.482C>T p.S161F Substitution - Missense 2:24310563-24310563 - 585210 COSM321077 c.2044C>G p.L682V Substitution - Missense 2:24275750-24275750 - HCC2998 COSM2911287 c.543T>G p.P181P Substitution - coding silent 2:24310502-24310502 - PTC_158 COSM5957779 c.513_514insC p.A172fs*23 Insertion - Frameshift 2:24310531-24310532 - TCGA-E2-A159-01 COSM442658 c.2359G>A p.D787N Substitution - Missense 2:24261739-24261739 - CHC1041T COSM250788 c.640T>G p.L214V Substitution - Missense 2:24310297-24310297 - T578 COSM4693675 c.2413T>G p.F805V Substitution - Missense 2:24261685-24261685 - 587278 COSM1211189 c.3551C>T p.T1184M Substitution - Missense 2:24246155-24246155 - PT48 COSM5930914 c.4987G>A p.E1663K Substitution - Missense 2:24203733-24203733 - TCGA-EE-A181-06 COSM3580191 c.1935C>T p.L645L Substitution - coding silent 2:24284772-24284772 - CHC909T COSM4806298 c.189G>T p.W63C Substitution - Missense 2:24312375-24312375 - TCGA-34-5928-01 COSM720808 c.2684G>A p.G895E Substitution - Missense 2:24258092-24258092 - LUAD_E01086 COSM354770 c.1824T>C p.S608S Substitution - coding silent 2:24286251-24286251 - ICGC_0002 COSM1158599 c.2544T>C p.L848L Substitution - coding silent 2:24261244-24261244 - TCGA-BR-6458-01 COSM4093177 c.1940T>G p.L647R Substitution - Missense 2:24284767-24284767 - PT26 COSM1614647 c.1345-4delT p.? Unknown 2:24298818-24298818 - CSCC-30-T COSM4497725 c.5033C>T p.P1678L Substitution - Missense 2:24203687-24203687 - C008 COSM5522928 c.331C>T p.P111S Substitution - Missense 2:24312233-24312233 - TCGA-BS-A0UF-01 COSM1019058 c.5086C>A p.L1696I Substitution - Missense 2:24203634-24203634 - Pat_59_B COSM5862243 c.4049C>T p.P1350L Substitution - Missense 2:24212690-24212690 - LUAD-RT-S01699 COSM378287 c.488G>T p.S163I Substitution - Missense 2:24310557-24310557 - TCGA-IR-A3LK-01 COSM4817337 c.3855G>A p.Q1285Q Substitution - coding silent 2:24216184-24216184 - TCGA-A3-3349-01 COSM477199 c.2797A>G p.N933D Substitution - Missense 2:24257979-24257979 - CHC1741T COSM4805445 c.4288C>G p.L1430V Substitution - Missense 2:24210003-24210003 - CSCC-49-T COSM4496623 c.4799C>T p.S1600F Substitution - Missense 2:24204382-24204382 - TCGA-33-4532-01 COSM720810 c.4008G>T p.P1336P Substitution - coding silent 2:24212731-24212731 - TCGA-EE-A29D-06 COSM3910068 c.1122G>A p.G374G Substitution - coding silent 2:24300131-24300131 - TCGA-18-3409-01 COSM720812 c.4274C>T p.S1425F Substitution - Missense 2:24210017-24210017 - ICGC_0030 COSM1158921 c.4297C>T p.R1433W Substitution - Missense 2:24209994-24209994 - PD24223a COSM5777946 c.1499G>C p.G500A Substitution - Missense 2:24295800-24295800 - TCGA-DA-A1HV-06 COSM3580205 c.332C>T p.P111L Substitution - Missense 2:24312232-24312232 - TCGA-EE-A2MR-06 COSM3580193 c.1897C>T p.L633F Substitution - Missense 2:24284810-24284810 - TCGA-D1-A16X-01 COSM1019099 c.1789G>T p.E597* Substitution - Nonsense 2:24286286-24286286 - CSCC-11-T COSM4534043 c.2041G>A p.E681K Substitution - Missense 2:24275753-24275753 - TCGA-BS-A0UV-01 COSM1019091 c.2588C>A p.S863Y Substitution - Missense 2:24261200-24261200 - TCGA-EE-A3JD-06 COSM4395929 c.4032C>T p.S1344S Substitution - coding silent 2:24212707-24212707 - TCGA-BS-A0UF-01 COSM1019103 c.1131G>A p.E377E Substitution - coding silent 2:24300122-24300122 - TCGA-QB-A6FS-06 COSM3910066 c.1173G>A p.R391R Substitution - coding silent 2:24300080-24300080 - HCC68T COSM1614649 c.775A>G p.M259V Substitution - Missense 2:24308635-24308635 - YUBER COSM1690267 c.3530C>T p.P1177L Substitution - Missense 2:24246176-24246176 - TCGA-D1-A101-01 COSM1019064 c.4660C>T p.R1554C Substitution - Missense 2:24208255-24208255 - 587376 COSM1211197 c.327T>G p.F109L Substitution - Missense 2:24312237-24312237 - 530 COSM3722215 c.136C>T p.R46C Substitution - Missense 2:24313512-24313512 - ESCC-190T COSM3939027 c.2442A>G p.E814E Substitution - coding silent 2:24261656-24261656 - TCGA-33-4532-01 COSM720811 c.4011G>T p.R1337R Substitution - coding silent 2:24212728-24212728 - TCGA-GV-A3QI-01 COSM1306627 c.219G>C p.K73N Substitution - Missense 2:24312345-24312345 - LUAD_E01047 COSM390141 c.3185C>A p.S1062* Substitution - Nonsense 2:24248732-24248732 - TCGA-OL-A5RZ-01 COSM3839123 c.4298G>A p.R1433Q Substitution - Missense 2:24209993-24209993 - CSCC-31-T COSM4566532 c.4049_4050CC>TT p.P1350L Substitution - Missense 2:24212689-24212690 - B105-0 COSM1752479 c.181G>T p.E61* Substitution - Nonsense 2:24313467-24313467 - TCGA-GN-A266-06 COSM3580201 c.1268A>T p.E423V Substitution - Missense 2:24299985-24299985 - TCGA-A5-A0R7-01 COSM1019081 c.3538T>C p.Y1180H Substitution - Missense 2:24246168-24246168 - HCT15 COSM2911273 c.1237G>A p.E413K Substitution - Missense 2:24300016-24300016 - LS411 COSM2911201 c.3297A>G p.G1099G Substitution - coding silent 2:24246885-24246885 - TCGA-AC-A23H-01 COSM3839122 c.4803G>C p.Q1601H Substitution - Missense 2:24204378-24204378 - BD173T COSM5505718 c.3025T>C p.L1009L Substitution - coding silent 2:24252440-24252440 - TCGA-C8-A26Y-01 COSM3839128 c.338T>A p.I113N Substitution - Missense 2:24312226-24312226 - T3225 COSM1019062 c.4661G>A p.R1554H Substitution - Missense 2:24208254-24208254 - TCGA-BR-4184-01 COSM4093173 c.2371G>A p.V791I Substitution - Missense 2:24261727-24261727 - CSCC-1-T COSM4450527 c.654-1G>T p.? Unknown 2:24308757-24308757 - TCGA-EJ-7315-01 COSM3673671 c.2682G>T p.Q894H Substitution - Missense 2:24261106-24261106 - T3021 COSM4693673 c.3680A>G p.D1227G Substitution - Missense 2:24220964-24220964 - TCGA-B5-A11E-01 COSM1019079 c.3587A>G p.D1196G Substitution - Missense 2:24221057-24221057 - 391 COSM4312086 c.1189G>T p.A397S Substitution - Missense 2:24300064-24300064 - I2L-P23-Tumor-Biopsy COSM5354432 c.4939T>G p.F1647V Substitution - Missense 2:24203781-24203781 - ESCC_103 COSM5638210 c.2773A>G p.I925V Substitution - Missense 2:24258003-24258003 - sysucc-627T COSM5468053 c.4233C>T p.H1411H Substitution - coding silent 2:24210804-24210804 - TCGA-E2-A109-01 COSM5834425 c.2093_2094insG p.G699fs*11 Insertion - Frameshift 2:24271929-24271930 - PD6045a COSM5768803 c.288T>C p.P96P Substitution - coding silent 2:24312276-24312276 - SWE-19 COSM1179029 c.1398G>C p.R466R Substitution - coding silent 2:24298761-24298761 - S13_pre COSM5574696 c.4415C>G p.S1472C Substitution - Missense 2:24209876-24209876 - CSCC-52-T COSM4446259 c.1345-3C>T p.? Unknown 2:24298817-24298817 - TCGA-AA-A010-01 COSM282032 c.370A>G p.N124D Substitution - Missense 2:24310675-24310675 - TCGA-AP-A0LM-01 COSM1019093 c.2152C>T p.R718* Substitution - Nonsense 2:24271871-24271871 - CHC1041T COSM250788 c.640T>G p.L214V Substitution - Missense 2:24310297-24310297 - HCC125T COSM5822621 c.1109A>G p.N370S Substitution - Missense 2:24300144-24300144 - PD4971a COSM5788334 c.148C>T p.L50L Substitution - coding silent 2:24313500-24313500 - TCGA-BS-A0UF-01 COSM1019074 c.4086A>G p.R1362R Substitution - coding silent 2:24212653-24212653 - TCGA-39-5031-01 COSM720807 c.2360A>T p.D787V Substitution - Missense 2:24261738-24261738 - B80-Tumor COSM1752477 c.353-2A>G p.? Unknown 2:24310694-24310694 - 4095_T COSM3962676 c.4736C>T p.T1579I Substitution - Missense 2:24205240-24205240 - TCGA-AA-3947-01 COSM272246 c.2368_2369insA p.T790fs*11 Insertion - Frameshift 2:24261729-24261730 - PD4956a COSM5788075 c.777G>A p.M259I Substitution - Missense 2:24308633-24308633 - TCGA-BP-4761-01 COSM3364680 c.2304T>C p.F768F Substitution - coding silent 2:24270722-24270722 - T2940 COSM4693671 c.4473+2T>C p.? Unknown 2:24209816-24209816 - 2521252 COSM5888672 c.1495-7C>T p.? Unknown 2:24295811-24295811 - I2L-P23-Tumor-Organoid COSM5354432 c.4939T>G p.F1647V Substitution - Missense 2:24203781-24203781 - TCGA-FD-A3SM-01 COSM3798847 c.1207G>A p.E403K Substitution - Missense 2:24300046-24300046 - CLL114 COSM1291481 c.2003A>G p.K668R Substitution - Missense 2:24275791-24275791 - YUKSI COSM2911277 c.1017C>T p.S339S Substitution - coding silent 2:24301218-24301218 - TCGA-BR-6452-01 COSM4093187 c.439A>T p.T147S Substitution - Missense 2:24310606-24310606 - CHOL12 COSM1743587 c.2734A>T p.K912* Substitution - Nonsense 2:24258042-24258042 - SWE-4A COSM1179508 c.4572C>A p.L1524L Substitution - coding silent 2:24209123-24209123 - S02255 COSM5680685 c.112G>C p.G38R Substitution - Missense 2:24315144-24315144 - TCGA-GN-A263-01 COSM3580190 c.3926T>C p.L1309P Substitution - Missense 2:24216113-24216113 - TCGA-C8-A275-01 COSM1482968 c.4127C>A p.S1376Y Substitution - Missense 2:24210910-24210910 - CHC301T COSM5348714 c.2922_2923insT p.P975fs*32 Insertion - Frameshift 2:24254397-24254398 - TCGA-FD-A3SN-01 COSM3798843 c.1368A>G p.R456R Substitution - coding silent 2:24298791-24298791 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.432562 2pter-p25.1 604464

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L647R c.1940T>G 2 24507636 STAD - AG IntronicInsertion . c.4257+148_4257+149insCT 2 24433500 CM A G Missense p.L1309P c.3926T>C 2 24438982 CM A G Synonymous p.D1163D c.3489T>C 2 24469086 RCCC A G Synonymous p.F768F c.2304T>C 2 24493591 RCCC A G Synonymous p.L65L c.193T>C 2 24535240 RCCC A G Synonymous p.L848L c.2544T>C 2 24484113 PAAD - A Nonsense p.N617*fs*1 c.1848dupT 2 24509096 STAD A T Missense p.M74K c.221T>A 2 24535212 COREAD C A Missense p.G1248V c.3743G>T 2 24440839 LUAD C A Missense p.G234W c.700G>T 2 24531579 BRCA C A Missense p.G699V c.2096G>T 2 24494796 HNSC C A Missense p.K1448N c.4344G>T 2 24432816 PRAD C A Missense p.M625I c.1875G>T 2 24507701 STAD C A Missense p.Q894H c.2682G>T 2 24483975 PRAD C A Missense p.R1272L c.3815G>T 2 24439093 LUAD C A Missense p.R1520L c.4559G>T 2 24432005 UCEC C A Missense p.R367L c.1100G>T 2 24523022 CM C A Missense p.V1232F c.3694G>T 2 24443819 LUAD C A Missense p.V482F c.1444G>T 2 24521584 HNSC C A Synonymous p.P1336P c.4008G>T 2 24435600 LUSC C A Synonymous p.R1337R c.4011G>T 2 24435597 LUSC C - Frameshift p.G1340Efs*9 c.4019delG 2 24435589 RCCC C G Missense p.A735P c.2203G>C 2 24494689 BRCA C G Missense p.E427Q c.1279G>C 2 24522843 HNSC C G Missense p.E996Q c.2986G>C 2 24475348 LUAD C G Missense p.K73N c.219G>C 2 24535214 BLCA C G Missense p.K741N c.2223G>C 2 24494669 BRCA C G Missense p.M625I c.1875G>C 2 24507701 HNSC C G Missense p.Q720H c.2160G>C 2 24494732 RCCC C G Missense p.R440S c.1320G>C 2 24522802 HNSC C T IntronicSNV . c.1082-59G>A 2 24523099 NSCLC C T Missense p.A978T c.2932G>A 2 24477257 UCEC C T Missense p.D1548N c.4642G>A 2 24431142 UCEC C T Missense p.D787N c.2359G>A 2 24484608 BRCA C T Missense p.E1233K c.3697G>A 2 24443816 HNSC C T Missense p.E496K c.1486G>A 2 24521542 CM C T Missense p.G895E c.2684G>A 2 24480961 LUSC C T Missense p.R458H c.1373G>A 2 24521655 STAD C T Missense p.R740H c.2219G>A 2 24494673 ALL C T SpliceAcceptorSNV . c.32-1G>A 2 24538094 BLCA C T SpliceAcceptorSNV . c.557-1G>A 2 24533250 LUAD C T Synonymous p.A1410A c.4230G>A 2 24433676 OV C T Synonymous p.K621K c.1863G>A 2 24509081 CM C T Synonymous p.P1336P c.4008G>A 2 24435600 GBM C T Synonymous p.Q296Q c.888G>A 2 24524941 LUSC C T Synonymous p.R694R c.2082G>A 2 24494810 LUSC G A IntronicSNV . c.1-9223C>T 2 24560174 CLL G A Missense p.A1583V c.4748C>T 2 24428097 CM G A Missense p.A824V c.2471C>T 2 24484496 BLCA G A Missense p.A82V c.245C>T 2 24535188 BLCA G A Missense p.P111L c.332C>T 2 24535101 CM G A Missense p.P157L c.470C>T 2 24533444 CM G A Missense p.R1433W c.4297C>T 2 24432863 PAAD G A Missense p.R961W c.2881C>T 2 24480764 HNSC G A Missense p.S161F c.482C>T 2 24533432 CM G A Missense p.S1643L c.4928C>T 2 24427122 BRCA G A Missense p.S236L c.707C>T 2 24531572 BRCA G A Missense p.S275L c.824C>T 2 24526701 GBM G A Nonsense p.Q274* c.820C>T 2 24526705 BRCA G A Synonymous p.F1486F c.4458C>T 2 24432702 CM G A Synonymous p.F49F c.147C>T 2 24536370 CM G A Synonymous p.L1697L c.5089C>T 2 24426500 CM G A Synonymous p.L645L c.1935C>T 2 24507641 CM G A Synonymous p.S1344S c.4032C>T 2 24435576 CM G A Synonymous p.S884S c.2652C>T 2 24484005 CM G A Synonymous p.T1355T c.4065C>T 2 24435543 CM G A Synonymous p.T976T c.2928C>T 2 24477261 ESCA G C Missense p.L1426V c.4276C>G 2 24432884 HNSC G C Missense p.L682V c.2044C>G 2 24498619 SCLC G C Missense p.Q473E c.1417C>G 2 24521611 BLCA G C Missense p.S330C c.989C>G 2 24524840 OV G C Missense p.S839C c.2516C>G 2 24484451 BRCA G C Synonymous p.S1562S c.4686C>G 2 24428159 BRCA G T IntronicSNV . c.1-7032C>A 2 24557983 CM G T Missense p.P890H c.2669C>A 2 24483988 STAD G T Missense p.S1376Y c.4127C>A 2 24433779 BRCA G T Synonymous p.P6P c.18C>A 2 24550934 THCA T A Missense p.D787V c.2360A>T 2 24484607 LUSC T A Missense p.K358N c.1074A>T 2 24524030 LUSC T A Missense p.N642Y c.1924A>T 2 24507652 SCLC T A Synonymous p.P809P c.2427A>T 2 24484540 HNSC T A Synonymous p.T138T c.414A>T 2 24533500 LUAD TC - Frameshift p.K1104Rfs*9 c.3309_3310delGA 2 24469741 CM T C IntronicSNV . c.1723+281A>G 2 24516276 HC T C IntronicSNV . c.32-2614A>G 2 24540707 CLL T C IntronicSNV . c.3577+4028A>G 2 24464970 HC T C IntronicSNV . c.3577+4563A>G 2 24464435 HC T C Missense p.E1676G c.5027A>G 2 24426562 CM T C Missense p.K487R c.1460A>G 2 24521568 HNSC T C Missense p.K668R c.2003A>G 2 24498660 CLL T C Missense p.M1488V c.4462A>G 2 24432698 BRCA T - Frameshift p.E1168Gfs*5 c.3503delA 2 24469072 BRCA - T Frameshift p.K687Efs*5 c.2057dupA 2 24498606 HNSC - T Frameshift p.K974Ifs*33 c.2920_2921insT 2 24477268 HC - T Frameshift p.P1055Tfs*2 c.3162dupA 2 24471710 HNSC T - Frameshift p.S1363Vfs*16 c.4087delA 2 24435521 RCCC T G Missense p.K366T c.1097A>C 2 24523025 STAD T G Synonymous p.G315G c.945A>C 2 24524884 RCCC