Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 1 215741053 215741053 + Missense_Mutation SNP T T G TCGA-OR-A5LP-01A-11D-A29I-10 TCGA-OR-A5LP-10A-01D-A29L-10 g.chr1:215741053T>G c.25T>G c.(25-27)Ttc>Gtc p.F9V ACC 1 215741053 215741053 + Missense_Mutation SNP T T G TCGA-P6-A5OH-01A-11D-A30A-10 TCGA-P6-A5OH-11A-01D-A30A-10 g.chr1:215741053T>G c.25T>G c.(25-27)Ttc>Gtc p.F9V ACC 1 215741053 215741053 + Missense_Mutation SNP T T G TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr1:215741053T>G c.25T>G c.(25-27)Ttc>Gtc p.F9V BLCA 1 215749295 215749295 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr1:215749295C>G c.235C>G c.(235-237)Cgg>Ggg p.R79G BLCA 1 215768802 215768802 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr1:215768802C>G c.922C>G c.(922-924)Cag>Gag p.Q308E BLCA 1 215775482 215775482 + Silent SNP G G A TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr1:215775482G>A c.1077G>A c.(1075-1077)ctG>ctA p.L359L BLCA 1 215777626 215777626 + Missense_Mutation SNP G G C TCGA-K4-A4AC-01A-21D-A26M-08 TCGA-K4-A4AC-10A-01D-A26K-08 g.chr1:215777626G>C c.1291G>C c.(1291-1293)Gag>Cag p.E431Q BLCA 1 215781434 215781434 + Missense_Mutation SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr1:215781434C>T c.1385C>T c.(1384-1386)tCt>tTt p.S462F BLCA 1 215792292 215792292 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 g.chr1:215792292G>A c.1627G>A c.(1627-1629)Gga>Aga p.G543R BLCA 1 215793545 215793545 + Missense_Mutation SNP G G A TCGA-XF-A9SL-01A-11D-A391-08 TCGA-XF-A9SL-10A-01D-A394-08 g.chr1:215793545G>A c.2033G>A c.(2032-2034)aGa>aAa p.R678K BLCA 1 215793634 215793634 + Missense_Mutation SNP G G A TCGA-E7-A5KF-01A-11D-A289-08 TCGA-E7-A5KF-10A-01D-A289-08 g.chr1:215793634G>A c.2122G>A c.(2122-2124)Gag>Aag p.E708K BLCA 1 215793777 215793777 + Silent SNP G G A TCGA-BT-A42E-01A-11D-A23U-08 TCGA-BT-A42E-10A-01D-A23U-08 g.chr1:215793777G>A c.2265G>A c.(2263-2265)aaG>aaA p.K755K BLCA 1 215793831 215793831 + Silent SNP G G T TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr1:215793831G>T c.2319G>T c.(2317-2319)ctG>ctT p.L773L BLCA 1 215793832 215793832 + Missense_Mutation SNP G G A TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr1:215793832G>A c.2320G>A c.(2320-2322)Gcg>Acg p.A774T BLCA 1 215793907 215793907 + Missense_Mutation SNP C C G TCGA-GU-AATQ-01A-11D-A391-08 TCGA-GU-AATQ-10A-01D-A394-08 g.chr1:215793907C>G c.2395C>G c.(2395-2397)Cca>Gca p.P799A BRCA 1 215753269 215753269 + Missense_Mutation SNP C C G TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 g.chr1:215753269C>G c.553C>G c.(553-555)Cga>Gga p.R185G BRCA 1 215759936 215759936 + Missense_Mutation SNP C C T TCGA-B6-A0X4-01A-11D-A10G-09 TCGA-B6-A0X4-10A-01D-A10G-09 g.chr1:215759936C>T c.725C>T c.(724-726)cCa>cTa p.P242L BRCA 1 215768802 215768802 + Nonsense_Mutation SNP C C T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 g.chr1:215768802C>T c.922C>T c.(922-924)Cag>Tag p.Q308* BRCA 1 215775437 215775437 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:215775437G>A c.1032G>A c.(1030-1032)aaG>aaA p.K344K BRCA 1 215785242 215785242 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 g.chr1:215785242G>C c.1541G>C c.(1540-1542)aGa>aCa p.R514T BRCA 1 215785258 215785258 + Frame_Shift_Del DEL A A - TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr1:215785258delA c.1557delA c.(1555-1557)ggafs p.G519fs BRCA 1 215792314 215792314 + Missense_Mutation SNP G G C TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 g.chr1:215792314G>C c.1649G>C c.(1648-1650)aGa>aCa p.R550T BRCA 1 215792602 215792602 + Nonsense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr1:215792602C>T c.1855C>T c.(1855-1857)Cag>Tag p.Q619* BRCA 1 215793688 215793688 + Silent SNP T T C TCGA-A7-A5ZV-01A-11D-A28B-09 TCGA-A7-A5ZV-10A-01D-A28E-09 g.chr1:215793688T>C c.2176T>C c.(2176-2178)Ttg>Ctg p.L726L BRCA 1 215793916 215793916 + Missense_Mutation SNP C C T TCGA-OL-A5RX-01A-11D-A28B-09 TCGA-OL-A5RX-10A-01D-A28E-09 g.chr1:215793916C>T c.2404C>T c.(2404-2406)Cgg>Tgg p.R802W CESC 1 215760001 215760001 + Nonsense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr1:215760001C>T c.790C>T c.(790-792)Cag>Tag p.Q264* CHOL 1 215753330 215753330 + Missense_Mutation SNP C C T TCGA-W5-AA30-01A-31D-A417-09 TCGA-W5-AA30-10A-01D-A41A-09 g.chr1:215753330C>T c.614C>T c.(613-615)gCt>gTt p.A205V COAD 1 215747131 215747131 + Missense_Mutation SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:215747131T>C c.86T>C c.(85-87)tTt>tCt p.F29S COAD 1 215747170 215747171 + Frame_Shift_Ins INS - - T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr1:215747170_215747171insT c.125_126insT c.(124-129)tcttttfs p.SF42fs COAD 1 215747171 215747171 + Frame_Shift_Del DEL T T - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:215747171delT c.126delT c.(124-126)tctfs p.S42fs COAD 1 215747444 215747444 + Nonsense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:215747444C>T c.166C>T c.(166-168)Cga>Tga p.R56* COAD 1 215752355 215752355 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:215752355G>A c.410G>A c.(409-411)cGt>cAt p.R137H COAD 1 215752423 215752423 + Missense_Mutation SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr1:215752423C>T c.478C>T c.(478-480)Cgg>Tgg p.R160W COAD 1 215752426 215752426 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr1:215752426G>A c.481G>A c.(481-483)Gga>Aga p.G161R COAD 1 215753258 215753258 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr1:215753258C>T c.542C>T c.(541-543)cCt>cTt p.P181L COAD 1 215759842 215759842 + Missense_Mutation SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:215759842A>G c.631A>G c.(631-633)Aaa>Gaa p.K211E COAD 1 215759845 215759845 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:215759845G>T c.634G>T c.(634-636)Gaa>Taa p.E212* COAD 1 215759898 215759898 + Silent SNP C C T TCGA-AA-3502-01A-01D-1408-10 TCGA-AA-3502-11A-01D-1408-10 g.chr1:215759898C>T c.687C>T c.(685-687)atC>atT p.I229I COAD 1 215760007 215760007 + Frame_Shift_Del DEL G G - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:215760007delG c.796delG c.(796-798)gggfs p.G267fs COAD 1 215768773 215768773 + Missense_Mutation SNP G G T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:215768773G>T c.893G>T c.(892-894)gGg>gTg p.G298V COAD 1 215775439 215775440 + Frame_Shift_Ins INS - - C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:215775439_215775440insC c.1034_1035insC c.(1033-1038)ttccccfs p.FP345fs COAD 1 215777559 215777559 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:215777559G>A c.1224G>A c.(1222-1224)ggG>ggA p.G408G COAD 1 215785206 215785206 + Missense_Mutation SNP A A G TCGA-A6-5664-01A-21D-1835-10 TCGA-A6-5664-10A-01D-1835-10 g.chr1:215785206A>G c.1505A>G c.(1504-1506)cAg>cGg p.Q502R COAD 1 215785206 215785206 + Missense_Mutation SNP A A G TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr1:215785206A>G c.1505A>G c.(1504-1506)cAg>cGg p.Q502R COAD 1 215785206 215785206 + Missense_Mutation SNP A A G TCGA-AZ-4682-01B-01D-1408-10 TCGA-AZ-4682-10A-01D-1408-10 g.chr1:215785206A>G c.1505A>G c.(1504-1506)cAg>cGg p.Q502R COAD 1 215785206 215785206 + Missense_Mutation SNP A A G TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:215785206A>G c.1505A>G c.(1504-1506)cAg>cGg p.Q502R COAD 1 215793422 215793422 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr1:215793422C>T c.1910C>T c.(1909-1911)aCc>aTc p.T637I COAD 1 215793922 215793922 + Frame_Shift_Del DEL A A - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr1:215793922delA c.2410delA c.(2410-2412)aaafs p.K805fs COAD 1 215793922 215793922 + Frame_Shift_Del DEL A A - TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:215793922delA c.2410delA c.(2410-2412)aaafs p.K805fs COAD 1 215793922 215793922 + Frame_Shift_Del DEL A A - TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr1:215793922delA c.2410delA c.(2410-2412)aaafs p.K805fs COAD 1 215793922 215793922 + Frame_Shift_Del DEL A A - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr1:215793922delA c.2410delA c.(2410-2412)aaafs p.K805fs COADREAD 1 215747131 215747131 + Missense_Mutation SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:215747131T>C c.86T>C c.(85-87)tTt>tCt p.F29S COADREAD 1 215747170 215747171 + Frame_Shift_Ins INS - - T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr1:215747170_215747171insT c.125_126insT c.(124-129)tcttttfs p.SF42fs COADREAD 1 215747171 215747171 + Frame_Shift_Del DEL T T - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:215747171delT c.126delT c.(124-126)tctfs p.S42fs COADREAD 1 215747444 215747444 + Nonsense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:215747444C>T c.166C>T c.(166-168)Cga>Tga p.R56* COADREAD 1 215751367 215751367 + Nonsense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:215751367G>T c.340G>T c.(340-342)Gaa>Taa p.E114* COADREAD 1 215751367 215751367 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:215751367G>T c.340G>T c.(340-342)Gaa>Taa p.E114* COADREAD 1 215752355 215752355 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:215752355G>A c.410G>A c.(409-411)cGt>cAt p.R137H COADREAD 1 215752423 215752423 + Missense_Mutation SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr1:215752423C>T c.478C>T c.(478-480)Cgg>Tgg p.R160W COADREAD 1 215752426 215752426 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr1:215752426G>A c.481G>A c.(481-483)Gga>Aga p.G161R COADREAD 1 215753258 215753258 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr1:215753258C>T c.542C>T c.(541-543)cCt>cTt p.P181L COADREAD 1 215759842 215759842 + Missense_Mutation SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:215759842A>G c.631A>G c.(631-633)Aaa>Gaa p.K211E COADREAD 1 215759845 215759845 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:215759845G>T c.634G>T c.(634-636)Gaa>Taa p.E212* COADREAD 1 215759898 215759898 + Silent SNP C C T TCGA-AA-3502-01A-01D-1408-10 TCGA-AA-3502-11A-01D-1408-10 g.chr1:215759898C>T c.687C>T c.(685-687)atC>atT p.I229I COADREAD 1 215760007 215760007 + Frame_Shift_Del DEL G G - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:215760007delG c.796delG c.(796-798)gggfs p.G267fs COADREAD 1 215768773 215768773 + Missense_Mutation SNP G G T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:215768773G>T c.893G>T c.(892-894)gGg>gTg p.G298V COADREAD 1 215775439 215775440 + Frame_Shift_Ins INS - - C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:215775439_215775440insC c.1034_1035insC c.(1033-1038)ttccccfs p.FP345fs COADREAD 1 215777559 215777559 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:215777559G>A c.1224G>A c.(1222-1224)ggG>ggA p.G408G COADREAD 1 215785206 215785206 + Missense_Mutation SNP A A G TCGA-A6-5664-01A-21D-1835-10 TCGA-A6-5664-10A-01D-1835-10 g.chr1:215785206A>G c.1505A>G c.(1504-1506)cAg>cGg p.Q502R COADREAD 1 215785206 215785206 + Missense_Mutation SNP A A G TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr1:215785206A>G c.1505A>G c.(1504-1506)cAg>cGg p.Q502R COADREAD 1 215785206 215785206 + Missense_Mutation SNP A A G TCGA-AZ-4682-01B-01D-1408-10 TCGA-AZ-4682-10A-01D-1408-10 g.chr1:215785206A>G c.1505A>G c.(1504-1506)cAg>cGg p.Q502R COADREAD 1 215785206 215785206 + Missense_Mutation SNP A A G TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:215785206A>G c.1505A>G c.(1504-1506)cAg>cGg p.Q502R COADREAD 1 215793422 215793422 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr1:215793422C>T c.1910C>T c.(1909-1911)aCc>aTc p.T637I COADREAD 1 215793922 215793922 + Frame_Shift_Del DEL A A - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr1:215793922delA c.2410delA c.(2410-2412)aaafs p.K805fs COADREAD 1 215793922 215793922 + Frame_Shift_Del DEL A A - TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:215793922delA c.2410delA c.(2410-2412)aaafs p.K805fs COADREAD 1 215793922 215793922 + Frame_Shift_Del DEL A A - TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr1:215793922delA c.2410delA c.(2410-2412)aaafs p.K805fs COADREAD 1 215793922 215793922 + Frame_Shift_Del DEL A A - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr1:215793922delA c.2410delA c.(2410-2412)aaafs p.K805fs DLBC 1 215751396 215751396 + Silent SNP C C T TCGA-FA-A86F-01A-11D-A382-10 TCGA-FA-A86F-10A-01D-A385-10 g.chr1:215751396C>T c.369C>T c.(367-369)gtC>gtT p.V123V DLBC 1 215759865 215759865 + Silent SNP A A G TCGA-FA-A4BB-01A-11D-A31X-10 TCGA-FA-A4BB-10A-01D-A31X-10 g.chr1:215759865A>G c.654A>G c.(652-654)caA>caG p.Q218Q ESCA 1 215793669 215793669 + Missense_Mutation SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 g.chr1:215793669G>C c.2157G>C c.(2155-2157)ttG>ttC p.L719F ESCA 1 215793774 215793774 + Silent SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 g.chr1:215793774G>A c.2262G>A c.(2260-2262)agG>agA p.R754R GBMLGG 1 215793456 215793456 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:215793456G>A c.1944G>A c.(1942-1944)agG>agA p.R648R HNSC 1 215752341 215752341 + Splice_Site SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 g.chr1:215752341A>G c.e7-1 HNSC 1 215752352 215752352 + Missense_Mutation SNP G G T TCGA-H7-A6C5-01A-11D-A30E-08 TCGA-H7-A6C5-10A-01D-A30H-08 g.chr1:215752352G>T c.407G>T c.(406-408)aGt>aTt p.S136I HNSC 1 215775237 215775237 + Missense_Mutation SNP A A G TCGA-HD-7832-01A-11D-2129-08 TCGA-HD-7832-10A-01D-2129-08 g.chr1:215775237A>G c.962A>G c.(961-963)tAt>tGt p.Y321C HNSC 1 215775490 215775490 + Missense_Mutation SNP A A T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 g.chr1:215775490A>T c.1085A>T c.(1084-1086)gAt>gTt p.D362V HNSC 1 215777507 215777507 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 g.chr1:215777507G>A c.1172G>A c.(1171-1173)gGt>gAt p.G391D HNSC 1 215777531 215777531 + Missense_Mutation SNP T T G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 g.chr1:215777531T>G c.1196T>G c.(1195-1197)gTg>gGg p.V399G HNSC 1 215777532 215777532 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 g.chr1:215777532G>A c.1197G>A c.(1195-1197)gtG>gtA p.V399V HNSC 1 215792410 215792410 + Missense_Mutation SNP A A G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 g.chr1:215792410A>G c.1745A>G c.(1744-1746)aAg>aGg p.K582R HNSC 1 215793922 215793922 + Frame_Shift_Del DEL A A - TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr1:215793922delA c.2410delA c.(2410-2412)aaafs p.K805fs LGG 1 215793456 215793456 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:215793456G>A c.1944G>A c.(1942-1944)agG>agA p.R648R LIHC 1 215768702 215768702 + Silent SNP G G A TCGA-DD-AADJ-01A-11D-A40R-10 TCGA-DD-AADJ-10A-01D-A40U-10 g.chr1:215768702G>A c.822G>A c.(820-822)gtG>gtA p.V274V LUAD 1 215747143 215747143 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 g.chr1:215747143G>T c.98G>T c.(97-99)aGa>aTa p.R33I LUAD 1 215747182 215747182 + Splice_Site SNP G G T TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr1:215747182G>T c.137G>T c.(136-138)aGt>aTt p.S46I LUAD 1 215751377 215751377 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 g.chr1:215751377G>T c.350G>T c.(349-351)cGt>cTt p.R117L LUAD 1 215751388 215751388 + Missense_Mutation SNP G G T TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr1:215751388G>T c.361G>T c.(361-363)Ggc>Tgc p.G121C LUAD 1 215752375 215752375 + Nonsense_Mutation SNP A A T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 g.chr1:215752375A>T c.430A>T c.(430-432)Aga>Tga p.R144* LUAD 1 215759874 215759874 + Silent SNP G G C TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr1:215759874G>C c.663G>C c.(661-663)acG>acC p.T221T LUAD 1 215759965 215759965 + Missense_Mutation SNP G G T TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr1:215759965G>T c.754G>T c.(754-756)Gtt>Ttt p.V252F LUAD 1 215760009 215760009 + Silent SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr1:215760009G>T c.798G>T c.(796-798)ggG>ggT p.G266G LUAD 1 215768784 215768784 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr1:215768784G>T c.904G>T c.(904-906)Gtg>Ttg p.V302L LUAD 1 215775296 215775296 + Splice_Site SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 g.chr1:215775296G>C c.1021G>C c.(1021-1023)Gat>Cat p.D341H LUAD 1 215777545 215777545 + Missense_Mutation SNP C C T TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr1:215777545C>T c.1210C>T c.(1210-1212)Cca>Tca p.P404S LUAD 1 215781360 215781374 + Splice_Site DEL CTGTGCAGATAATAA CTGTGCAGATAATAA - TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 g.chr1:215781360_215781374delCTGTGCAGATAATAA c.1311_1325delCTGTGCAGATAATAA c.(1309-1326)gtctgtgcagataataat>gtt p.CADNN438del LUAD 1 215792243 215792243 + Missense_Mutation SNP G G T TCGA-50-5942-01A-21D-1753-08 TCGA-50-5942-10A-01D-1753-08 g.chr1:215792243G>T c.1578G>T c.(1576-1578)caG>caT p.Q526H LUAD 1 215792539 215792539 + Nonsense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 g.chr1:215792539C>T c.1792C>T c.(1792-1794)Caa>Taa p.Q598* LUAD 1 215793472 215793472 + Missense_Mutation SNP C C T TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr1:215793472C>T c.1960C>T c.(1960-1962)Cct>Tct p.P654S LUAD 1 215793486 215793486 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr1:215793486G>C c.1974G>C c.(1972-1974)agG>agC p.R658S LUAD 1 215793562 215793562 + Missense_Mutation SNP G G C TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr1:215793562G>C c.2050G>C c.(2050-2052)Gtc>Ctc p.V684L LUAD 1 215793728 215793728 + Missense_Mutation SNP A A G TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 g.chr1:215793728A>G c.2216A>G c.(2215-2217)aAg>aGg p.K739R LUAD 1 215793784 215793784 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr1:215793784G>T c.2272G>T c.(2272-2274)Gga>Tga p.G758* LUAD 1 215793797 215793797 + Missense_Mutation SNP G G T TCGA-17-Z016-01A-01W-0746-08 TCGA-17-Z016-11A-01W-0746-08 g.chr1:215793797G>T c.2285G>T c.(2284-2286)gGa>gTa p.G762V LUAD 1 215793829 215793829 + Missense_Mutation SNP C C G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 g.chr1:215793829C>G c.2317C>G c.(2317-2319)Ctg>Gtg p.L773V LUSC 1 215759950 215759950 + Missense_Mutation SNP G G A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 g.chr1:215759950G>A c.739G>A c.(739-741)Gac>Aac p.D247N LUSC 1 215759994 215759994 + Missense_Mutation SNP G G T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 g.chr1:215759994G>T c.783G>T c.(781-783)tgG>tgT p.W261C LUSC 1 215777494 215777494 + Nonsense_Mutation SNP G G T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 g.chr1:215777494G>T c.1159G>T c.(1159-1161)Gag>Tag p.E387* LUSC 1 215792322 215792322 + Missense_Mutation SNP C C T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr1:215792322C>T c.1657C>T c.(1657-1659)Cgc>Tgc p.R553C LUSC 1 215793754 215793754 + Nonsense_Mutation SNP G G T TCGA-66-2768-01A-01D-1522-08 TCGA-66-2768-11A-01D-1522-08 g.chr1:215793754G>T c.2242G>T c.(2242-2244)Gaa>Taa p.E748* OV 1 215747131 215747131 + Missense_Mutation SNP T T G TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 g.chr1:215747131T>G c.86T>G c.(85-87)tTt>tGt p.F29C OV 1 215785206 215785206 + Missense_Mutation SNP A A G TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 g.chr1:215785206A>G c.1505A>G c.(1504-1506)cAg>cGg p.Q502R PAAD 1 215747170 215747171 + Frame_Shift_Ins INS - - T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 g.chr1:215747170_215747171insT c.125_126insT c.(124-129)tcttttfs p.SF42fs PAAD 1 215747170 215747171 + Frame_Shift_Ins INS - - T TCGA-YY-A8LH-01A-11D-A36O-08 TCGA-YY-A8LH-10A-01D-A367-08 g.chr1:215747170_215747171insT c.125_126insT c.(124-129)tcttttfs p.SF42fs PAAD 1 215747171 215747171 + Frame_Shift_Del DEL T T - TCGA-2J-AABO-01A-21D-A40W-08 TCGA-2J-AABO-10A-01D-A40W-08 g.chr1:215747171delT c.126delT c.(124-126)tctfs p.S42fs PAAD 1 215775224 215775224 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:215775224C>A c.949C>A c.(949-951)Cct>Act p.P317T PAAD 1 215793638 215793638 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:215793638G>A c.2126G>A c.(2125-2127)aGa>aAa p.R709K PAAD 1 215793742 215793742 + Nonsense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:215793742G>T c.2230G>T c.(2230-2232)Gaa>Taa p.E744* PCPG 1 215792612 215792612 + Missense_Mutation SNP A A G TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 g.chr1:215792612A>G c.1865A>G c.(1864-1866)cAc>cGc p.H622R PRAD 1 215793922 215793922 + Frame_Shift_Del DEL A A - TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr1:215793922delA c.2410delA c.(2410-2412)aaafs p.K805fs READ 1 215751367 215751367 + Nonsense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:215751367G>T c.340G>T c.(340-342)Gaa>Taa p.E114* READ 1 215751367 215751367 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:215751367G>T c.340G>T c.(340-342)Gaa>Taa p.E114* SARC 1 215749265 215749265 + Missense_Mutation SNP G G T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 g.chr1:215749265G>T c.205G>T c.(205-207)Gca>Tca p.A69S SKCM 1 215751065 215751065 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr1:215751065C>T c.310C>T c.(310-312)Cca>Tca p.P104S SKCM 1 215751403 215751403 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr1:215751403C>T c.376C>T c.(376-378)Cat>Tat p.H126Y SKCM 1 215759998 215759998 + Missense_Mutation SNP G G T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 g.chr1:215759998G>T c.787G>T c.(787-789)Gtt>Ttt p.V263F SKCM 1 215768791 215768791 + Missense_Mutation SNP A A C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr1:215768791A>C c.911A>C c.(910-912)aAt>aCt p.N304T SKCM 1 215777493 215777493 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr1:215777493C>T c.1158C>T c.(1156-1158)atC>atT p.I386I SKCM 1 215777580 215777580 + Silent SNP G G A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 g.chr1:215777580G>A c.1245G>A c.(1243-1245)caG>caA p.Q415Q SKCM 1 215781439 215781439 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 g.chr1:215781439C>T c.1390C>T c.(1390-1392)Cct>Tct p.P464S SKCM 1 215792594 215792594 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr1:215792594C>T c.1847C>T c.(1846-1848)tCc>tTc p.S616F SKCM 1 215793523 215793523 + Missense_Mutation SNP T T C TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr1:215793523T>C c.2011T>C c.(2011-2013)Ttc>Ctc p.F671L SKCM 1 215793565 215793565 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr1:215793565C>T c.2053C>T c.(2053-2055)Cct>Tct p.P685S SKCM 1 215793804 215793804 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr1:215793804C>T c.2292C>T c.(2290-2292)ttC>ttT p.F764F SKCM 1 215793886 215793886 + Missense_Mutation SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr1:215793886C>T c.2374C>T c.(2374-2376)Cca>Tca p.P792S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 215759985 215759985 single base substitution C T synonymous_variant I258I 774C>T BLCA-CN 1 215793403 215793403 single base substitution C T downstream_gene_variant BLCA-CN 1 215793403 215793403 single base substitution C T exon_variant BLCA-CN 1 215793403 215793403 single base substitution C T stop_gained Q631* 1891C>T BLCA-US 1 215768802 215768802 single base substitution C G missense_variant Q308E 922C>G BLCA-US 1 215792292 215792292 single base substitution G A 3_prime_UTR_variant BLCA-US 1 215792292 215792292 single base substitution G A exon_variant BLCA-US 1 215792292 215792292 single base substitution G A missense_variant G543R 1627G>A BOCA-FR 1 215745966 215745966 single base substitution C T intron_variant BOCA-FR 1 215745966 215745966 single base substitution C T upstream_gene_variant BRCA-EU 1 215736092 215736092 single base substitution A T upstream_gene_variant BRCA-EU 1 215737605 215737605 single base substitution C A upstream_gene_variant BRCA-EU 1 215737826 215737826 single base substitution G T upstream_gene_variant BRCA-EU 1 215739819 215739819 single base substitution T A upstream_gene_variant BRCA-EU 1 215739927 215739927 single base substitution G C upstream_gene_variant BRCA-EU 1 215739943 215739943 single base substitution T C upstream_gene_variant BRCA-EU 1 215740694 215740694 single base substitution T C upstream_gene_variant BRCA-EU 1 215740785 215740785 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 215741655 215741655 single base substitution C T intron_variant BRCA-EU 1 215741673 215741673 single base substitution G C intron_variant BRCA-EU 1 215742225 215742225 single base substitution C G intron_variant BRCA-EU 1 215742225 215742225 single base substitution C G upstream_gene_variant BRCA-EU 1 215746502 215746502 single base substitution G A intron_variant BRCA-EU 1 215746502 215746502 single base substitution G A upstream_gene_variant BRCA-EU 1 215748695 215748695 single base substitution A G intron_variant BRCA-EU 1 215750170 215750170 single base substitution C G intron_variant BRCA-EU 1 215750908 215750908 single base substitution G A intron_variant BRCA-EU 1 215753818 215753818 single base substitution C G intron_variant BRCA-EU 1 215754199 215754199 single base substitution T A intron_variant BRCA-EU 1 215754247 215754247 single base substitution T C intron_variant BRCA-EU 1 215754666 215754666 insertion of <=200bp - T downstream_gene_variant BRCA-EU 1 215754666 215754666 insertion of <=200bp - T intron_variant BRCA-EU 1 215754727 215754727 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 215754727 215754727 deletion of <=200bp T - intron_variant BRCA-EU 1 215755083 215755083 single base substitution A C downstream_gene_variant BRCA-EU 1 215755083 215755083 single base substitution A C intron_variant BRCA-EU 1 215755265 215755265 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 215755265 215755265 deletion of <=200bp A - intron_variant BRCA-EU 1 215755357 215755357 single base substitution C T downstream_gene_variant BRCA-EU 1 215755357 215755357 single base substitution C T intron_variant BRCA-EU 1 215755657 215755657 single base substitution T C downstream_gene_variant BRCA-EU 1 215755657 215755657 single base substitution T C intron_variant BRCA-EU 1 215755746 215755746 single base substitution C T downstream_gene_variant BRCA-EU 1 215755746 215755746 single base substitution C T intron_variant BRCA-EU 1 215756584 215756584 single base substitution T C downstream_gene_variant BRCA-EU 1 215756584 215756584 single base substitution T C intron_variant BRCA-EU 1 215757126 215757126 single base substitution C G downstream_gene_variant BRCA-EU 1 215757126 215757126 single base substitution C G intron_variant BRCA-EU 1 215757559 215757559 single base substitution C G downstream_gene_variant BRCA-EU 1 215757559 215757559 single base substitution C G intron_variant BRCA-EU 1 215760089 215760089 single base substitution G C intron_variant BRCA-EU 1 215762044 215762044 single base substitution C T intron_variant BRCA-EU 1 215762480 215762480 single base substitution C G intron_variant BRCA-EU 1 215763625 215763625 single base substitution G A intron_variant BRCA-EU 1 215763700 215763700 single base substitution A T intron_variant BRCA-EU 1 215763749 215763749 single base substitution G C intron_variant BRCA-EU 1 215764419 215764419 single base substitution T C intron_variant BRCA-EU 1 215764906 215764906 single base substitution C G intron_variant BRCA-EU 1 215765156 215765156 single base substitution C G intron_variant BRCA-EU 1 215765441 215765441 single base substitution G A intron_variant BRCA-EU 1 215765458 215765458 single base substitution T C intron_variant BRCA-EU 1 215765816 215765816 single base substitution T G intron_variant BRCA-EU 1 215766029 215766029 single base substitution C T intron_variant BRCA-EU 1 215766848 215766848 single base substitution G A intron_variant BRCA-EU 1 215766984 215766984 deletion of <=200bp T - intron_variant BRCA-EU 1 215767093 215767093 single base substitution G C intron_variant BRCA-EU 1 215767448 215767448 single base substitution C T intron_variant BRCA-EU 1 215767731 215767731 single base substitution G A intron_variant BRCA-EU 1 215768274 215768274 single base substitution C A intron_variant BRCA-EU 1 215770702 215770702 single base substitution G A intron_variant BRCA-EU 1 215770702 215770702 single base substitution G A upstream_gene_variant BRCA-EU 1 215771629 215771629 single base substitution G T intron_variant BRCA-EU 1 215771629 215771629 single base substitution G T upstream_gene_variant BRCA-EU 1 215771802 215771802 single base substitution G A intron_variant BRCA-EU 1 215771802 215771802 single base substitution G A upstream_gene_variant BRCA-EU 1 215772147 215772147 single base substitution G C intron_variant BRCA-EU 1 215772147 215772147 single base substitution G C upstream_gene_variant BRCA-EU 1 215773690 215773690 deletion of <=200bp T - intron_variant BRCA-EU 1 215773690 215773690 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 215774270 215774270 single base substitution C T intron_variant BRCA-EU 1 215774270 215774270 single base substitution C T upstream_gene_variant BRCA-EU 1 215774666 215774666 single base substitution C T intron_variant BRCA-EU 1 215774666 215774666 single base substitution C T upstream_gene_variant BRCA-EU 1 215775785 215775785 single base substitution G C intron_variant BRCA-EU 1 215778759 215778759 single base substitution C T intron_variant BRCA-EU 1 215778775 215778775 single base substitution A G intron_variant BRCA-EU 1 215779076 215779076 single base substitution C T intron_variant BRCA-EU 1 215779667 215779667 single base substitution C A intron_variant BRCA-EU 1 215780158 215780177 deletion of <=200bp AGTGCATTTTAATCCCTTAA - intron_variant BRCA-EU 1 215781331 215781331 single base substitution A T intron_variant BRCA-EU 1 215781606 215781606 single base substitution A T intron_variant BRCA-EU 1 215782529 215782529 single base substitution C T intron_variant BRCA-EU 1 215782644 215782644 single base substitution G C intron_variant BRCA-EU 1 215783619 215783619 single base substitution C T intron_variant BRCA-EU 1 215783671 215783671 deletion of <=200bp T - intron_variant BRCA-EU 1 215783938 215783938 single base substitution A G intron_variant BRCA-EU 1 215785950 215785950 single base substitution T C intron_variant BRCA-EU 1 215787542 215787542 single base substitution T C intron_variant BRCA-EU 1 215787542 215787542 single base substitution T C upstream_gene_variant BRCA-EU 1 215787551 215787551 single base substitution C G intron_variant BRCA-EU 1 215787551 215787551 single base substitution C G upstream_gene_variant BRCA-EU 1 215788919 215788919 single base substitution G A intron_variant BRCA-EU 1 215788919 215788919 single base substitution G A upstream_gene_variant BRCA-EU 1 215788955 215788955 single base substitution C G intron_variant BRCA-EU 1 215788955 215788955 single base substitution C G upstream_gene_variant BRCA-EU 1 215789264 215789264 single base substitution C T intron_variant BRCA-EU 1 215789264 215789264 single base substitution C T upstream_gene_variant BRCA-EU 1 215790017 215790017 single base substitution G A intron_variant BRCA-EU 1 215790017 215790017 single base substitution G A upstream_gene_variant BRCA-EU 1 215790489 215790489 single base substitution C G intron_variant BRCA-EU 1 215790489 215790489 single base substitution C G upstream_gene_variant BRCA-EU 1 215790916 215790916 deletion of <=200bp A - intron_variant BRCA-EU 1 215790916 215790916 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 215791119 215791120 deletion of <=200bp TA - intron_variant BRCA-EU 1 215791119 215791120 deletion of <=200bp TA - upstream_gene_variant BRCA-EU 1 215791358 215791358 single base substitution G C intron_variant BRCA-EU 1 215791358 215791358 single base substitution G C upstream_gene_variant BRCA-EU 1 215791735 215791735 deletion of <=200bp T - exon_variant BRCA-EU 1 215791735 215791735 deletion of <=200bp T - intron_variant BRCA-EU 1 215791735 215791735 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 215791913 215791913 single base substitution C T exon_variant BRCA-EU 1 215791913 215791913 single base substitution C T intron_variant BRCA-EU 1 215791913 215791913 single base substitution C T upstream_gene_variant BRCA-EU 1 215793253 215793253 single base substitution T C downstream_gene_variant BRCA-EU 1 215793253 215793253 single base substitution T C intron_variant BRCA-EU 1 215793823 215793824 deletion of <=200bp CC - downstream_gene_variant BRCA-EU 1 215793823 215793824 deletion of <=200bp CC - exon_variant BRCA-EU 1 215793823 215793824 deletion of <=200bp CC - frameshift_variant P771 BRCA-EU 1 215793907 215793907 single base substitution C G downstream_gene_variant BRCA-EU 1 215793907 215793907 single base substitution C G exon_variant BRCA-EU 1 215793907 215793907 single base substitution C G missense_variant P799A 2395C>G BRCA-EU 1 215794376 215794376 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 215794376 215794376 single base substitution C G downstream_gene_variant BRCA-EU 1 215794376 215794376 single base substitution C G exon_variant BRCA-EU 1 215794564 215794564 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 215794564 215794564 single base substitution C T downstream_gene_variant BRCA-EU 1 215794564 215794564 single base substitution C T exon_variant BRCA-EU 1 215795806 215795806 single base substitution C T downstream_gene_variant BRCA-EU 1 215796106 215796106 single base substitution G T downstream_gene_variant BRCA-EU 1 215797101 215797101 single base substitution C T downstream_gene_variant BRCA-EU 1 215798403 215798403 single base substitution C A downstream_gene_variant BRCA-EU 1 215798953 215798953 single base substitution C T downstream_gene_variant BRCA-EU 1 215799000 215799000 single base substitution C G downstream_gene_variant BRCA-EU 1 215799642 215799642 insertion of <=200bp - TA downstream_gene_variant BRCA-FR 1 215741679 215741679 single base substitution G A intron_variant BRCA-FR 1 215753818 215753818 single base substitution C G intron_variant BRCA-FR 1 215754199 215754199 single base substitution T A intron_variant BRCA-FR 1 215757126 215757126 single base substitution C G downstream_gene_variant BRCA-FR 1 215757126 215757126 single base substitution C G intron_variant BRCA-FR 1 215762480 215762480 single base substitution C G intron_variant BRCA-FR 1 215763890 215763890 single base substitution C T intron_variant BRCA-FR 1 215765156 215765156 single base substitution C G intron_variant BRCA-FR 1 215778759 215778759 single base substitution C T intron_variant BRCA-FR 1 215779076 215779076 single base substitution C T intron_variant BRCA-FR 1 215783619 215783619 single base substitution C T intron_variant BRCA-FR 1 215787542 215787542 single base substitution T C intron_variant BRCA-FR 1 215787542 215787542 single base substitution T C upstream_gene_variant BRCA-FR 1 215788955 215788955 single base substitution C G intron_variant BRCA-FR 1 215788955 215788955 single base substitution C G upstream_gene_variant BRCA-FR 1 215789264 215789264 single base substitution C T intron_variant BRCA-FR 1 215789264 215789264 single base substitution C T upstream_gene_variant BRCA-FR 1 215797101 215797101 single base substitution C T downstream_gene_variant BRCA-UK 1 215743543 215743543 single base substitution G T intron_variant BRCA-UK 1 215743543 215743543 single base substitution G T upstream_gene_variant BRCA-UK 1 215761992 215761992 single base substitution C T intron_variant BRCA-UK 1 215764641 215764641 single base substitution C T intron_variant BRCA-UK 1 215765518 215765518 single base substitution G A intron_variant BRCA-UK 1 215775448 215775448 single base substitution G T missense_variant R348L 1043G>T BRCA-UK 1 215775448 215775448 single base substitution G T upstream_gene_variant BRCA-US 1 215753269 215753269 single base substitution C G missense_variant R157G 469C>G BRCA-US 1 215753269 215753269 single base substitution C G missense_variant R185G 553C>G BRCA-US 1 215759936 215759936 single base substitution C T missense_variant P242L 725C>T BRCA-US 1 215768802 215768802 single base substitution C T stop_gained Q308* 922C>T BRCA-US 1 215775437 215775437 single base substitution G A synonymous_variant K344K 1032G>A BRCA-US 1 215775437 215775437 single base substitution G A upstream_gene_variant BRCA-US 1 215785242 215785242 single base substitution G C missense_variant R145T 434G>C BRCA-US 1 215785242 215785242 single base substitution G C missense_variant R514T 1541G>C BRCA-US 1 215785258 215785258 deletion of <=200bp A - frameshift_variant G150 BRCA-US 1 215785258 215785258 deletion of <=200bp A - frameshift_variant G519 BRCA-US 1 215792314 215792314 single base substitution G C downstream_gene_variant BRCA-US 1 215792314 215792314 single base substitution G C exon_variant BRCA-US 1 215792314 215792314 single base substitution G C missense_variant R550T 1649G>C BRCA-US 1 215792602 215792602 single base substitution C T downstream_gene_variant BRCA-US 1 215792602 215792602 single base substitution C T exon_variant BRCA-US 1 215792602 215792602 single base substitution C T stop_gained Q619* 1855C>T BRCA-US 1 215793688 215793688 single base substitution T C downstream_gene_variant BRCA-US 1 215793688 215793688 single base substitution T C exon_variant BRCA-US 1 215793688 215793688 single base substitution T C synonymous_variant L726L 2176T>C BRCA-US 1 215793916 215793916 single base substitution C T downstream_gene_variant BRCA-US 1 215793916 215793916 single base substitution C T exon_variant BRCA-US 1 215793916 215793916 single base substitution C T missense_variant R802W 2404C>T BTCA-JP 1 215747295 215747295 single base substitution A T intron_variant BTCA-JP 1 215747468 215747470 deletion of <=200bp ATA - splice_region_variant BTCA-JP 1 215753428 215753428 deletion of <=200bp T - intron_variant BTCA-JP 1 215759984 215759984 single base substitution T A missense_variant I258N 773T>A BTCA-JP 1 215792411 215792411 single base substitution G T downstream_gene_variant BTCA-JP 1 215792411 215792411 single base substitution G T exon_variant BTCA-JP 1 215792411 215792411 single base substitution G T missense_variant K582N 1746G>T BTCA-JP 1 215792411 215792411 single base substitution G T splice_region_variant CESC-US 1 215760001 215760001 single base substitution C T stop_gained Q264* 790C>T CLLE-ES 1 215737200 215737200 single base substitution T G upstream_gene_variant CLLE-ES 1 215764645 215764645 single base substitution C T intron_variant CLLE-ES 1 215765270 215765270 single base substitution A G intron_variant CLLE-ES 1 215776154 215776154 single base substitution G A intron_variant CLLE-ES 1 215794127 215794127 single base substitution C G 3_prime_UTR_variant CLLE-ES 1 215794127 215794127 single base substitution C G downstream_gene_variant CLLE-ES 1 215794127 215794127 single base substitution C G exon_variant CLLE-ES 1 215795734 215795734 single base substitution A G downstream_gene_variant CLLE-ES 1 215795948 215795948 single base substitution C T downstream_gene_variant CLLE-ES 1 215798132 215798132 single base substitution A G downstream_gene_variant COAD-US 1 215747170 215747170 insertion of <=200bp - T frameshift_variant S14F? COAD-US 1 215747170 215747170 insertion of <=200bp - T frameshift_variant S42F? COAD-US 1 215747444 215747444 single base substitution C T stop_gained R28* 82C>T COAD-US 1 215747444 215747444 single base substitution C T stop_gained R56* 166C>T COAD-US 1 215752423 215752423 single base substitution C T missense_variant R132W 394C>T COAD-US 1 215752423 215752423 single base substitution C T missense_variant R160W 478C>T COAD-US 1 215752426 215752426 single base substitution G A missense_variant G133R 397G>A COAD-US 1 215752426 215752426 single base substitution G A missense_variant G161R 481G>A COAD-US 1 215753258 215753258 single base substitution C T missense_variant P153L 458C>T COAD-US 1 215753258 215753258 single base substitution C T missense_variant P181L 542C>T COAD-US 1 215759898 215759898 single base substitution C T synonymous_variant I229I 687C>T COAD-US 1 215760007 215760007 deletion of <=200bp G - frameshift_variant G266 COAD-US 1 215768773 215768773 single base substitution G T missense_variant G298V 893G>T COAD-US 1 215775439 215775439 insertion of <=200bp - C frameshift_variant F345S? COAD-US 1 215775439 215775439 insertion of <=200bp - C upstream_gene_variant COAD-US 1 215777559 215777559 single base substitution G A synonymous_variant G39G 117G>A COAD-US 1 215777559 215777559 single base substitution G A synonymous_variant G408G 1224G>A COAD-US 1 215793834 215793834 single base substitution G A downstream_gene_variant COAD-US 1 215793834 215793834 single base substitution G A exon_variant COAD-US 1 215793834 215793834 single base substitution G A synonymous_variant A774A 2322G>A COAD-US 1 215793922 215793922 deletion of <=200bp A - downstream_gene_variant COAD-US 1 215793922 215793922 deletion of <=200bp A - exon_variant COAD-US 1 215793922 215793922 deletion of <=200bp A - frameshift_variant K804 COCA-CN 1 215759907 215759907 single base substitution A G synonymous_variant V232V 696A>G COCA-CN 1 215775394 215775394 single base substitution A G intron_variant COCA-CN 1 215775394 215775394 single base substitution A G upstream_gene_variant COCA-CN 1 215793987 215793987 single base substitution C T 3_prime_UTR_variant COCA-CN 1 215793987 215793987 single base substitution C T downstream_gene_variant COCA-CN 1 215793987 215793987 single base substitution C T exon_variant COCA-CN 1 215799007 215799007 single base substitution G T downstream_gene_variant EOPC-DE 1 215743719 215743719 single base substitution C T intron_variant EOPC-DE 1 215743719 215743719 single base substitution C T upstream_gene_variant ESAD-UK 1 215735841 215735841 insertion of <=200bp - AAT upstream_gene_variant ESAD-UK 1 215736206 215736206 single base substitution C T upstream_gene_variant ESAD-UK 1 215736433 215736433 single base substitution T C upstream_gene_variant ESAD-UK 1 215736809 215736809 single base substitution A C upstream_gene_variant ESAD-UK 1 215737824 215737824 single base substitution T G upstream_gene_variant ESAD-UK 1 215737907 215737907 single base substitution A G upstream_gene_variant ESAD-UK 1 215739607 215739607 single base substitution C G upstream_gene_variant ESAD-UK 1 215742990 215742990 single base substitution G C intron_variant ESAD-UK 1 215742990 215742990 single base substitution G C upstream_gene_variant ESAD-UK 1 215743802 215743802 single base substitution C G intron_variant ESAD-UK 1 215743802 215743802 single base substitution C G upstream_gene_variant ESAD-UK 1 215744169 215744169 single base substitution T A intron_variant ESAD-UK 1 215744169 215744169 single base substitution T A upstream_gene_variant ESAD-UK 1 215750743 215750743 single base substitution A T intron_variant ESAD-UK 1 215752093 215752093 single base substitution A T intron_variant ESAD-UK 1 215752114 215752114 single base substitution G A intron_variant ESAD-UK 1 215754199 215754199 single base substitution T A intron_variant ESAD-UK 1 215754525 215754525 single base substitution G T downstream_gene_variant ESAD-UK 1 215754525 215754525 single base substitution G T intron_variant ESAD-UK 1 215755234 215755234 single base substitution A G downstream_gene_variant ESAD-UK 1 215755234 215755234 single base substitution A G intron_variant ESAD-UK 1 215758073 215758073 single base substitution C T downstream_gene_variant ESAD-UK 1 215758073 215758073 single base substitution C T intron_variant ESAD-UK 1 215758168 215758168 single base substitution C T downstream_gene_variant ESAD-UK 1 215758168 215758168 single base substitution C T intron_variant ESAD-UK 1 215758464 215758464 single base substitution A G downstream_gene_variant ESAD-UK 1 215758464 215758464 single base substitution A G intron_variant ESAD-UK 1 215758588 215758588 single base substitution C T downstream_gene_variant ESAD-UK 1 215758588 215758588 single base substitution C T intron_variant ESAD-UK 1 215763955 215763955 single base substitution C T intron_variant ESAD-UK 1 215764857 215764857 single base substitution G A intron_variant ESAD-UK 1 215765715 215765715 single base substitution T G intron_variant ESAD-UK 1 215768819 215768819 insertion of <=200bp - T splice_region_variant ESAD-UK 1 215771687 215771687 single base substitution T C intron_variant ESAD-UK 1 215771687 215771687 single base substitution T C upstream_gene_variant ESAD-UK 1 215773652 215773652 single base substitution A C intron_variant ESAD-UK 1 215773652 215773652 single base substitution A C upstream_gene_variant ESAD-UK 1 215774133 215774133 single base substitution C T intron_variant ESAD-UK 1 215774133 215774133 single base substitution C T upstream_gene_variant ESAD-UK 1 215774356 215774356 single base substitution C T intron_variant ESAD-UK 1 215774356 215774356 single base substitution C T upstream_gene_variant ESAD-UK 1 215774922 215774922 deletion of <=200bp A - intron_variant ESAD-UK 1 215774922 215774922 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 215775059 215775059 single base substitution G A intron_variant ESAD-UK 1 215775059 215775059 single base substitution G A upstream_gene_variant ESAD-UK 1 215775615 215775615 single base substitution G A intron_variant ESAD-UK 1 215775832 215775832 deletion of <=200bp T - intron_variant ESAD-UK 1 215776501 215776501 single base substitution T A intron_variant ESAD-UK 1 215778244 215778244 single base substitution A G intron_variant ESAD-UK 1 215780941 215780941 deletion of <=200bp T - intron_variant ESAD-UK 1 215784811 215784811 single base substitution C T intron_variant ESAD-UK 1 215785556 215785556 single base substitution A C intron_variant ESAD-UK 1 215787399 215787399 single base substitution G C intron_variant ESAD-UK 1 215787399 215787399 single base substitution G C upstream_gene_variant ESAD-UK 1 215789777 215789777 single base substitution T A intron_variant ESAD-UK 1 215789777 215789777 single base substitution T A upstream_gene_variant ESAD-UK 1 215790543 215790543 single base substitution C T intron_variant ESAD-UK 1 215790543 215790543 single base substitution C T upstream_gene_variant ESAD-UK 1 215794790 215794790 single base substitution A G 3_prime_UTR_variant ESAD-UK 1 215794790 215794790 single base substitution A G downstream_gene_variant ESAD-UK 1 215794790 215794790 single base substitution A G exon_variant ESAD-UK 1 215795117 215795117 single base substitution A C 3_prime_UTR_variant ESAD-UK 1 215795117 215795117 single base substitution A C downstream_gene_variant ESAD-UK 1 215796256 215796256 single base substitution T A downstream_gene_variant ESAD-UK 1 215796290 215796290 single base substitution T C downstream_gene_variant ESAD-UK 1 215797810 215797810 insertion of <=200bp - TA downstream_gene_variant ESAD-UK 1 215799511 215799512 deletion of <=200bp TG - downstream_gene_variant ESCA-CN 1 215793598 215793598 single base substitution G T downstream_gene_variant ESCA-CN 1 215793598 215793598 single base substitution G T exon_variant ESCA-CN 1 215793598 215793598 single base substitution G T stop_gained E696* 2086G>T GBM-US 1 215799138 215799138 single base substitution T C downstream_gene_variant LAML-CN 1 215792338 215792338 single base substitution G C downstream_gene_variant LAML-CN 1 215792338 215792338 single base substitution G C exon_variant LAML-CN 1 215792338 215792338 single base substitution G C missense_variant G558A 1673G>C LICA-CN 1 215793544 215793544 single base substitution A G downstream_gene_variant LICA-CN 1 215793544 215793544 single base substitution A G exon_variant LICA-CN 1 215793544 215793544 single base substitution A G missense_variant R678G 2032A>G LICA-CN 1 215793631 215793631 single base substitution T A downstream_gene_variant LICA-CN 1 215793631 215793631 single base substitution T A exon_variant LICA-CN 1 215793631 215793631 single base substitution T A missense_variant S707T 2119T>A LICA-FR 1 215738659 215738659 single base substitution A G upstream_gene_variant LICA-FR 1 215739841 215739841 single base substitution G T upstream_gene_variant LICA-FR 1 215740900 215740900 single base substitution A C 5_prime_UTR_variant LICA-FR 1 215753925 215753925 single base substitution A G intron_variant LICA-FR 1 215759641 215759641 single base substitution A G intron_variant LICA-FR 1 215768898 215768898 single base substitution A G intron_variant LICA-FR 1 215775488 215775488 single base substitution T C synonymous_variant H361H 1083T>C LICA-FR 1 215775488 215775488 single base substitution T C upstream_gene_variant LICA-FR 1 215789545 215789581 deletion of <=200bp ACAAATGTTGATTTGTTTTATTTGAAACATAAACAGG - intron_variant LICA-FR 1 215789545 215789581 deletion of <=200bp ACAAATGTTGATTTGTTTTATTTGAAACATAAACAGG - upstream_gene_variant LICA-FR 1 215793427 215793427 single base substitution C G downstream_gene_variant LICA-FR 1 215793427 215793427 single base substitution C G exon_variant LICA-FR 1 215793427 215793427 single base substitution C G missense_variant H639D 1915C>G LICA-FR 1 215797908 215797908 single base substitution A C downstream_gene_variant LICA-FR 1 215798200 215798200 single base substitution T G downstream_gene_variant LICA-FR 1 215799174 215799174 single base substitution A G downstream_gene_variant LINC-JP 1 215748467 215748467 single base substitution T G intron_variant LINC-JP 1 215754199 215754199 single base substitution T A intron_variant LINC-JP 1 215754244 215754244 single base substitution G A intron_variant LINC-JP 1 215754257 215754257 single base substitution A C intron_variant LINC-JP 1 215754270 215754270 single base substitution A G intron_variant LINC-JP 1 215772618 215772618 single base substitution A G intron_variant LINC-JP 1 215772618 215772618 single base substitution A G upstream_gene_variant LINC-JP 1 215773677 215773677 single base substitution C G intron_variant LINC-JP 1 215773677 215773677 single base substitution C G upstream_gene_variant LINC-JP 1 215775375 215775375 single base substitution T G intron_variant LINC-JP 1 215775375 215775375 single base substitution T G upstream_gene_variant LINC-JP 1 215797524 215797524 single base substitution T C downstream_gene_variant LIRI-JP 1 215735744 215735744 single base substitution C A upstream_gene_variant LIRI-JP 1 215735745 215735745 single base substitution A G upstream_gene_variant LIRI-JP 1 215736473 215736473 single base substitution T C upstream_gene_variant LIRI-JP 1 215736870 215736870 single base substitution C T upstream_gene_variant LIRI-JP 1 215737124 215737124 single base substitution G A upstream_gene_variant LIRI-JP 1 215738072 215738072 single base substitution T C upstream_gene_variant LIRI-JP 1 215738094 215738094 single base substitution G C upstream_gene_variant LIRI-JP 1 215738322 215738322 single base substitution C T upstream_gene_variant LIRI-JP 1 215738391 215738391 single base substitution G A upstream_gene_variant LIRI-JP 1 215739001 215739001 single base substitution G A upstream_gene_variant LIRI-JP 1 215739417 215739417 single base substitution C G upstream_gene_variant LIRI-JP 1 215742626 215742626 single base substitution G T intron_variant LIRI-JP 1 215742626 215742626 single base substitution G T upstream_gene_variant LIRI-JP 1 215742874 215742874 single base substitution T C intron_variant LIRI-JP 1 215742874 215742874 single base substitution T C upstream_gene_variant LIRI-JP 1 215744069 215744069 single base substitution A G intron_variant LIRI-JP 1 215744069 215744069 single base substitution A G upstream_gene_variant LIRI-JP 1 215744524 215744524 single base substitution C G intron_variant LIRI-JP 1 215744524 215744524 single base substitution C G upstream_gene_variant LIRI-JP 1 215745694 215745694 single base substitution G C intron_variant LIRI-JP 1 215745694 215745694 single base substitution G C upstream_gene_variant LIRI-JP 1 215747171 215747171 deletion of <=200bp T - frameshift_variant S14 LIRI-JP 1 215747171 215747171 deletion of <=200bp T - frameshift_variant S42 LIRI-JP 1 215747526 215747526 single base substitution T C intron_variant LIRI-JP 1 215748426 215748426 single base substitution C T intron_variant LIRI-JP 1 215749377 215749377 single base substitution T A intron_variant LIRI-JP 1 215750367 215750367 single base substitution A G intron_variant LIRI-JP 1 215750784 215750784 single base substitution A G intron_variant LIRI-JP 1 215754260 215754260 single base substitution T G intron_variant LIRI-JP 1 215755386 215755386 single base substitution A G downstream_gene_variant LIRI-JP 1 215755386 215755386 single base substitution A G intron_variant LIRI-JP 1 215756536 215756536 single base substitution C T downstream_gene_variant LIRI-JP 1 215756536 215756536 single base substitution C T intron_variant LIRI-JP 1 215756576 215756576 single base substitution T G downstream_gene_variant LIRI-JP 1 215756576 215756576 single base substitution T G intron_variant LIRI-JP 1 215758039 215758039 single base substitution A G downstream_gene_variant LIRI-JP 1 215758039 215758039 single base substitution A G intron_variant LIRI-JP 1 215759400 215759400 single base substitution A G downstream_gene_variant LIRI-JP 1 215759400 215759400 single base substitution A G intron_variant LIRI-JP 1 215760588 215760588 single base substitution T C intron_variant LIRI-JP 1 215761292 215761292 single base substitution A G intron_variant LIRI-JP 1 215762908 215762908 single base substitution G A intron_variant LIRI-JP 1 215767768 215767768 single base substitution A G intron_variant LIRI-JP 1 215769923 215769923 single base substitution A C intron_variant LIRI-JP 1 215772102 215772102 single base substitution A C intron_variant LIRI-JP 1 215772102 215772102 single base substitution A C upstream_gene_variant LIRI-JP 1 215775715 215775715 single base substitution A G intron_variant LIRI-JP 1 215776612 215776612 single base substitution T C intron_variant LIRI-JP 1 215777430 215777430 single base substitution A G intron_variant LIRI-JP 1 215778845 215778845 single base substitution A G intron_variant LIRI-JP 1 215780800 215780800 single base substitution G C intron_variant LIRI-JP 1 215783951 215783951 single base substitution T G intron_variant LIRI-JP 1 215785191 215785191 single base substitution A C missense_variant Q128P 383A>C LIRI-JP 1 215785191 215785191 single base substitution A C missense_variant Q497P 1490A>C LIRI-JP 1 215785399 215785399 single base substitution T C intron_variant LIRI-JP 1 215785609 215785609 single base substitution A G intron_variant LIRI-JP 1 215789574 215789574 single base substitution T A intron_variant LIRI-JP 1 215789574 215789574 single base substitution T A upstream_gene_variant LIRI-JP 1 215790659 215790659 single base substitution A C intron_variant LIRI-JP 1 215790659 215790659 single base substitution A C upstream_gene_variant LIRI-JP 1 215792480 215792480 single base substitution A G downstream_gene_variant LIRI-JP 1 215792480 215792480 single base substitution A G exon_variant LIRI-JP 1 215792480 215792480 single base substitution A G intron_variant LIRI-JP 1 215793635 215793635 single base substitution A C downstream_gene_variant LIRI-JP 1 215793635 215793635 single base substitution A C exon_variant LIRI-JP 1 215793635 215793635 single base substitution A C missense_variant E708A 2123A>C LIRI-JP 1 215795202 215795202 single base substitution T C downstream_gene_variant LIRI-JP 1 215795506 215795506 single base substitution A G downstream_gene_variant LIRI-JP 1 215796993 215796993 single base substitution A G downstream_gene_variant LIRI-JP 1 215799816 215799816 insertion of <=200bp - T downstream_gene_variant LIRI-JP 1 215799853 215799865 deletion of <=200bp GCTGTATTTTGTA - downstream_gene_variant LUSC-KR 1 215737595 215737595 single base substitution A T upstream_gene_variant LUSC-KR 1 215738233 215738233 single base substitution G T upstream_gene_variant LUSC-KR 1 215742007 215742007 single base substitution G T intron_variant LUSC-KR 1 215745274 215745274 single base substitution G T intron_variant LUSC-KR 1 215745274 215745274 single base substitution G T upstream_gene_variant LUSC-KR 1 215747332 215747332 single base substitution G T intron_variant LUSC-KR 1 215753134 215753134 single base substitution C T intron_variant LUSC-KR 1 215755035 215755035 single base substitution C T downstream_gene_variant LUSC-KR 1 215755035 215755035 single base substitution C T intron_variant LUSC-KR 1 215760659 215760659 single base substitution G C intron_variant LUSC-KR 1 215761185 215761185 single base substitution G A intron_variant LUSC-KR 1 215764924 215764924 single base substitution C T intron_variant LUSC-KR 1 215769051 215769051 single base substitution A T intron_variant LUSC-KR 1 215774489 215774489 single base substitution G T intron_variant LUSC-KR 1 215774489 215774489 single base substitution G T upstream_gene_variant LUSC-KR 1 215778981 215778981 single base substitution A G intron_variant LUSC-KR 1 215780097 215780097 single base substitution G T intron_variant LUSC-KR 1 215781424 215781424 single base substitution C T stop_gained Q459* 1375C>T LUSC-KR 1 215781424 215781424 single base substitution C T stop_gained Q90* 268C>T LUSC-KR 1 215781654 215781654 single base substitution G T intron_variant LUSC-KR 1 215782784 215782784 single base substitution G A intron_variant LUSC-KR 1 215788653 215788653 single base substitution A G intron_variant LUSC-KR 1 215788653 215788653 single base substitution A G upstream_gene_variant LUSC-KR 1 215790737 215790737 single base substitution C G intron_variant LUSC-KR 1 215790737 215790737 single base substitution C G upstream_gene_variant LUSC-KR 1 215791625 215791625 single base substitution G T exon_variant LUSC-KR 1 215791625 215791625 single base substitution G T intron_variant LUSC-KR 1 215791625 215791625 single base substitution G T upstream_gene_variant LUSC-KR 1 215793623 215793623 single base substitution G T downstream_gene_variant LUSC-KR 1 215793623 215793623 single base substitution G T exon_variant LUSC-KR 1 215793623 215793623 single base substitution G T missense_variant C704F 2111G>T LUSC-KR 1 215794109 215794109 single base substitution G C 3_prime_UTR_variant LUSC-KR 1 215794109 215794109 single base substitution G C downstream_gene_variant LUSC-KR 1 215794109 215794109 single base substitution G C exon_variant LUSC-KR 1 215796418 215796418 single base substitution A T downstream_gene_variant LUSC-KR 1 215797765 215797765 single base substitution G C downstream_gene_variant LUSC-KR 1 215798679 215798679 single base substitution A G downstream_gene_variant LUSC-KR 1 215799264 215799264 single base substitution T C downstream_gene_variant LUSC-KR 1 215799298 215799298 single base substitution A G downstream_gene_variant LUSC-US 1 215759950 215759950 single base substitution G A missense_variant D247N 739G>A LUSC-US 1 215759994 215759994 single base substitution G T missense_variant W261C 783G>T LUSC-US 1 215777494 215777494 single base substitution G T stop_gained E18* 52G>T LUSC-US 1 215777494 215777494 single base substitution G T stop_gained E387* 1159G>T LUSC-US 1 215792322 215792322 single base substitution C T downstream_gene_variant LUSC-US 1 215792322 215792322 single base substitution C T exon_variant LUSC-US 1 215792322 215792322 single base substitution C T missense_variant R553C 1657C>T LUSC-US 1 215793754 215793754 single base substitution G T downstream_gene_variant LUSC-US 1 215793754 215793754 single base substitution G T exon_variant LUSC-US 1 215793754 215793754 single base substitution G T stop_gained E748* 2242G>T MALY-DE 1 215738026 215738026 single base substitution A T upstream_gene_variant MALY-DE 1 215738318 215738318 single base substitution C T upstream_gene_variant MALY-DE 1 215741528 215741528 single base substitution C T intron_variant MALY-DE 1 215747731 215747731 single base substitution C T intron_variant MALY-DE 1 215748444 215748444 single base substitution A C intron_variant MALY-DE 1 215749573 215749573 single base substitution G A intron_variant MALY-DE 1 215750349 215750349 single base substitution A C intron_variant MALY-DE 1 215751244 215751244 single base substitution C A intron_variant MALY-DE 1 215752664 215752664 single base substitution C G intron_variant MALY-DE 1 215753428 215753428 insertion of <=200bp - T intron_variant MALY-DE 1 215756463 215756463 insertion of <=200bp - T downstream_gene_variant MALY-DE 1 215756463 215756463 insertion of <=200bp - T intron_variant MALY-DE 1 215765877 215765877 single base substitution G A intron_variant MALY-DE 1 215769203 215769203 single base substitution A G intron_variant MALY-DE 1 215774521 215774521 single base substitution T G intron_variant MALY-DE 1 215774521 215774521 single base substitution T G upstream_gene_variant MALY-DE 1 215779351 215779351 single base substitution A G intron_variant MALY-DE 1 215781553 215781553 single base substitution T G intron_variant MALY-DE 1 215783671 215783671 insertion of <=200bp - T intron_variant MALY-DE 1 215784189 215784189 single base substitution T G intron_variant MALY-DE 1 215786102 215786102 single base substitution T C intron_variant MALY-DE 1 215788430 215788430 single base substitution A C intron_variant MALY-DE 1 215788430 215788430 single base substitution A C upstream_gene_variant MALY-DE 1 215799768 215799768 single base substitution C A downstream_gene_variant MELA-AU 1 215735897 215735897 single base substitution T C upstream_gene_variant MELA-AU 1 215735979 215735979 single base substitution A G upstream_gene_variant MELA-AU 1 215735997 215735997 single base substitution A T upstream_gene_variant MELA-AU 1 215736196 215736196 single base substitution C T upstream_gene_variant MELA-AU 1 215736328 215736328 single base substitution C T upstream_gene_variant MELA-AU 1 215736526 215736526 single base substitution A T upstream_gene_variant MELA-AU 1 215736551 215736551 single base substitution C T upstream_gene_variant MELA-AU 1 215737051 215737051 single base substitution A G upstream_gene_variant MELA-AU 1 215737461 215737461 single base substitution G A upstream_gene_variant MELA-AU 1 215738305 215738305 single base substitution G A upstream_gene_variant MELA-AU 1 215738567 215738567 single base substitution C T upstream_gene_variant MELA-AU 1 215738834 215738834 single base substitution C T upstream_gene_variant MELA-AU 1 215739574 215739574 single base substitution C T upstream_gene_variant MELA-AU 1 215742198 215742198 single base substitution C T intron_variant MELA-AU 1 215742198 215742198 single base substitution C T upstream_gene_variant MELA-AU 1 215743037 215743037 single base substitution C T intron_variant MELA-AU 1 215743037 215743037 single base substitution C T upstream_gene_variant MELA-AU 1 215744120 215744120 single base substitution G A intron_variant MELA-AU 1 215744120 215744120 single base substitution G A upstream_gene_variant MELA-AU 1 215744346 215744347 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 215744346 215744347 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 215744368 215744368 single base substitution T G intron_variant MELA-AU 1 215744368 215744368 single base substitution T G upstream_gene_variant MELA-AU 1 215745060 215745061 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 1 215745060 215745061 multiple base substitution (>=2bp and <=200bp) AC TT upstream_gene_variant MELA-AU 1 215745147 215745147 single base substitution C T intron_variant MELA-AU 1 215745147 215745147 single base substitution C T upstream_gene_variant MELA-AU 1 215745231 215745231 single base substitution C T intron_variant MELA-AU 1 215745231 215745231 single base substitution C T upstream_gene_variant MELA-AU 1 215745481 215745481 single base substitution C T intron_variant MELA-AU 1 215745481 215745481 single base substitution C T upstream_gene_variant MELA-AU 1 215745520 215745520 single base substitution C A intron_variant MELA-AU 1 215745520 215745520 single base substitution C A upstream_gene_variant MELA-AU 1 215745663 215745663 single base substitution C T intron_variant MELA-AU 1 215745663 215745663 single base substitution C T upstream_gene_variant MELA-AU 1 215746226 215746226 single base substitution T C intron_variant MELA-AU 1 215746226 215746226 single base substitution T C upstream_gene_variant MELA-AU 1 215746369 215746369 single base substitution C G intron_variant MELA-AU 1 215746369 215746369 single base substitution C G upstream_gene_variant MELA-AU 1 215746461 215746461 single base substitution G A intron_variant MELA-AU 1 215746461 215746461 single base substitution G A upstream_gene_variant MELA-AU 1 215747041 215747041 single base substitution C T intron_variant MELA-AU 1 215747041 215747041 single base substitution C T upstream_gene_variant MELA-AU 1 215747170 215747170 single base substitution C T missense_variant S14F 41C>T MELA-AU 1 215747170 215747170 single base substitution C T missense_variant S42F 125C>T MELA-AU 1 215747932 215747932 single base substitution C T intron_variant MELA-AU 1 215748235 215748235 single base substitution C T intron_variant MELA-AU 1 215748308 215748308 single base substitution T G intron_variant MELA-AU 1 215748343 215748343 single base substitution C T intron_variant MELA-AU 1 215748714 215748714 single base substitution C T intron_variant MELA-AU 1 215748889 215748889 single base substitution C T intron_variant MELA-AU 1 215749422 215749422 single base substitution G A intron_variant MELA-AU 1 215749866 215749866 single base substitution T C intron_variant MELA-AU 1 215749873 215749873 single base substitution C T intron_variant MELA-AU 1 215750016 215750016 single base substitution T A intron_variant MELA-AU 1 215750274 215750274 single base substitution T C intron_variant MELA-AU 1 215750791 215750791 single base substitution T C intron_variant MELA-AU 1 215750804 215750805 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 1 215751015 215751015 single base substitution G T missense_variant G59V 176G>T MELA-AU 1 215751015 215751015 single base substitution G T missense_variant G87V 260G>T MELA-AU 1 215751383 215751383 single base substitution C T missense_variant S119F 356C>T MELA-AU 1 215751383 215751383 single base substitution C T missense_variant S91F 272C>T MELA-AU 1 215751458 215751458 single base substitution C T intron_variant MELA-AU 1 215751646 215751646 single base substitution C T intron_variant MELA-AU 1 215751761 215751762 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 215752342 215752342 single base substitution G A splice_acceptor_variant MELA-AU 1 215752388 215752388 single base substitution C T missense_variant S120F 359C>T MELA-AU 1 215752388 215752388 single base substitution C T missense_variant S148F 443C>T MELA-AU 1 215752490 215752490 single base substitution G A intron_variant MELA-AU 1 215752855 215752855 single base substitution T C intron_variant MELA-AU 1 215753453 215753453 single base substitution C T intron_variant MELA-AU 1 215753683 215753683 single base substitution C T intron_variant MELA-AU 1 215754200 215754200 single base substitution A T intron_variant MELA-AU 1 215754887 215754887 single base substitution C T downstream_gene_variant MELA-AU 1 215754887 215754887 single base substitution C T intron_variant MELA-AU 1 215756344 215756344 single base substitution A G downstream_gene_variant MELA-AU 1 215756344 215756344 single base substitution A G intron_variant MELA-AU 1 215756369 215756369 single base substitution C T downstream_gene_variant MELA-AU 1 215756369 215756369 single base substitution C T intron_variant MELA-AU 1 215756384 215756384 single base substitution C T downstream_gene_variant MELA-AU 1 215756384 215756384 single base substitution C T intron_variant MELA-AU 1 215756641 215756641 single base substitution C T downstream_gene_variant MELA-AU 1 215756641 215756641 single base substitution C T intron_variant MELA-AU 1 215756657 215756657 single base substitution C T downstream_gene_variant MELA-AU 1 215756657 215756657 single base substitution C T intron_variant MELA-AU 1 215758009 215758009 single base substitution C T downstream_gene_variant MELA-AU 1 215758009 215758009 single base substitution C T intron_variant MELA-AU 1 215758149 215758149 single base substitution T C downstream_gene_variant MELA-AU 1 215758149 215758149 single base substitution T C intron_variant MELA-AU 1 215758602 215758602 single base substitution C T downstream_gene_variant MELA-AU 1 215758602 215758602 single base substitution C T intron_variant MELA-AU 1 215758728 215758728 single base substitution T C downstream_gene_variant MELA-AU 1 215758728 215758728 single base substitution T C intron_variant MELA-AU 1 215759043 215759043 single base substitution A T downstream_gene_variant MELA-AU 1 215759043 215759043 single base substitution A T intron_variant MELA-AU 1 215759388 215759388 single base substitution A T downstream_gene_variant MELA-AU 1 215759388 215759388 single base substitution A T intron_variant MELA-AU 1 215759516 215759516 single base substitution C T downstream_gene_variant MELA-AU 1 215759516 215759516 single base substitution C T intron_variant MELA-AU 1 215759735 215759735 single base substitution T C intron_variant MELA-AU 1 215760360 215760360 single base substitution C T intron_variant MELA-AU 1 215760471 215760471 single base substitution T G intron_variant MELA-AU 1 215760713 215760713 single base substitution C T intron_variant MELA-AU 1 215762484 215762484 single base substitution C T intron_variant MELA-AU 1 215762593 215762593 single base substitution C T intron_variant MELA-AU 1 215763001 215763001 single base substitution C T intron_variant MELA-AU 1 215763087 215763087 single base substitution C T intron_variant MELA-AU 1 215763172 215763172 single base substitution A G intron_variant MELA-AU 1 215763372 215763372 single base substitution C T intron_variant MELA-AU 1 215763442 215763442 single base substitution G T intron_variant MELA-AU 1 215764459 215764459 single base substitution C T intron_variant MELA-AU 1 215764507 215764507 single base substitution C T intron_variant MELA-AU 1 215764616 215764616 single base substitution C T intron_variant MELA-AU 1 215764633 215764633 single base substitution C T intron_variant MELA-AU 1 215764692 215764692 single base substitution C T intron_variant MELA-AU 1 215764766 215764766 single base substitution C T intron_variant MELA-AU 1 215764809 215764809 single base substitution C T intron_variant MELA-AU 1 215765112 215765112 single base substitution C T intron_variant MELA-AU 1 215765383 215765383 single base substitution C T intron_variant MELA-AU 1 215765770 215765770 single base substitution G A intron_variant MELA-AU 1 215766036 215766036 single base substitution T C intron_variant MELA-AU 1 215766304 215766304 single base substitution C T intron_variant MELA-AU 1 215766725 215766725 single base substitution G A intron_variant MELA-AU 1 215767109 215767109 single base substitution C T intron_variant MELA-AU 1 215767137 215767137 single base substitution C T intron_variant MELA-AU 1 215767361 215767361 single base substitution C T intron_variant MELA-AU 1 215767920 215767920 single base substitution C T intron_variant MELA-AU 1 215767931 215767931 single base substitution C T intron_variant MELA-AU 1 215769444 215769444 single base substitution C T intron_variant MELA-AU 1 215769782 215769782 single base substitution C T intron_variant MELA-AU 1 215770127 215770127 single base substitution C T intron_variant MELA-AU 1 215770584 215770584 single base substitution A C intron_variant MELA-AU 1 215770584 215770584 single base substitution A C upstream_gene_variant MELA-AU 1 215770706 215770706 single base substitution C T intron_variant MELA-AU 1 215770706 215770706 single base substitution C T upstream_gene_variant MELA-AU 1 215771159 215771160 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 215771159 215771160 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 215771506 215771506 single base substitution C T intron_variant MELA-AU 1 215771506 215771506 single base substitution C T upstream_gene_variant MELA-AU 1 215771763 215771763 single base substitution G T intron_variant MELA-AU 1 215771763 215771763 single base substitution G T upstream_gene_variant MELA-AU 1 215772049 215772049 single base substitution T A intron_variant MELA-AU 1 215772049 215772049 single base substitution T A upstream_gene_variant MELA-AU 1 215772779 215772779 single base substitution G A intron_variant MELA-AU 1 215772779 215772779 single base substitution G A upstream_gene_variant MELA-AU 1 215773416 215773416 single base substitution C T intron_variant MELA-AU 1 215773416 215773416 single base substitution C T upstream_gene_variant MELA-AU 1 215774371 215774371 single base substitution C T intron_variant MELA-AU 1 215774371 215774371 single base substitution C T upstream_gene_variant MELA-AU 1 215774403 215774404 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 215774403 215774404 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 215774498 215774498 single base substitution C T intron_variant MELA-AU 1 215774498 215774498 single base substitution C T upstream_gene_variant MELA-AU 1 215774655 215774655 single base substitution C T intron_variant MELA-AU 1 215774655 215774655 single base substitution C T upstream_gene_variant MELA-AU 1 215774820 215774820 single base substitution T A intron_variant MELA-AU 1 215774820 215774820 single base substitution T A upstream_gene_variant MELA-AU 1 215774922 215774922 deletion of <=200bp A - intron_variant MELA-AU 1 215774922 215774922 deletion of <=200bp A - upstream_gene_variant MELA-AU 1 215774975 215774975 single base substitution A G intron_variant MELA-AU 1 215774975 215774975 single base substitution A G upstream_gene_variant MELA-AU 1 215775417 215775417 single base substitution T C intron_variant MELA-AU 1 215775417 215775417 single base substitution T C upstream_gene_variant MELA-AU 1 215775442 215775442 single base substitution C T missense_variant P346L 1037C>T MELA-AU 1 215775442 215775442 single base substitution C T upstream_gene_variant MELA-AU 1 215775817 215775817 single base substitution C T intron_variant MELA-AU 1 215776758 215776758 single base substitution C T intron_variant MELA-AU 1 215776896 215776896 single base substitution G T intron_variant MELA-AU 1 215777493 215777493 single base substitution C T synonymous_variant I17I 51C>T MELA-AU 1 215777493 215777493 single base substitution C T synonymous_variant I386I 1158C>T MELA-AU 1 215777914 215777914 single base substitution C T intron_variant MELA-AU 1 215779696 215779696 single base substitution A G intron_variant MELA-AU 1 215780866 215780866 single base substitution C T intron_variant MELA-AU 1 215780867 215780867 single base substitution C T intron_variant MELA-AU 1 215781350 215781350 single base substitution C T intron_variant MELA-AU 1 215781465 215781465 single base substitution C T synonymous_variant S103S 309C>T MELA-AU 1 215781465 215781465 single base substitution C T synonymous_variant S472S 1416C>T MELA-AU 1 215781780 215781780 single base substitution T C intron_variant MELA-AU 1 215782297 215782297 single base substitution C T intron_variant MELA-AU 1 215782410 215782410 single base substitution A G intron_variant MELA-AU 1 215782783 215782783 single base substitution C T intron_variant MELA-AU 1 215783654 215783654 single base substitution G A intron_variant MELA-AU 1 215784349 215784349 single base substitution T G intron_variant MELA-AU 1 215784834 215784834 single base substitution C T intron_variant MELA-AU 1 215785076 215785076 single base substitution C T intron_variant MELA-AU 1 215785242 215785242 single base substitution G A missense_variant R145K 434G>A MELA-AU 1 215785242 215785242 single base substitution G A missense_variant R514K 1541G>A MELA-AU 1 215785520 215785520 single base substitution C T intron_variant MELA-AU 1 215786158 215786158 single base substitution T G intron_variant MELA-AU 1 215786569 215786569 single base substitution T C intron_variant MELA-AU 1 215786950 215786950 single base substitution C T intron_variant MELA-AU 1 215786950 215786950 single base substitution C T upstream_gene_variant MELA-AU 1 215787138 215787138 single base substitution C T intron_variant MELA-AU 1 215787138 215787138 single base substitution C T upstream_gene_variant MELA-AU 1 215787206 215787206 single base substitution T C intron_variant MELA-AU 1 215787206 215787206 single base substitution T C upstream_gene_variant MELA-AU 1 215787598 215787598 single base substitution C T intron_variant MELA-AU 1 215787598 215787598 single base substitution C T upstream_gene_variant MELA-AU 1 215789291 215789291 single base substitution C T intron_variant MELA-AU 1 215789291 215789291 single base substitution C T upstream_gene_variant MELA-AU 1 215789536 215789536 single base substitution C T intron_variant MELA-AU 1 215789536 215789536 single base substitution C T upstream_gene_variant MELA-AU 1 215790097 215790097 single base substitution C T intron_variant MELA-AU 1 215790097 215790097 single base substitution C T upstream_gene_variant MELA-AU 1 215790511 215790511 single base substitution C T intron_variant MELA-AU 1 215790511 215790511 single base substitution C T upstream_gene_variant MELA-AU 1 215790574 215790574 single base substitution C T intron_variant MELA-AU 1 215790574 215790574 single base substitution C T upstream_gene_variant MELA-AU 1 215791308 215791308 single base substitution C T intron_variant MELA-AU 1 215791308 215791308 single base substitution C T upstream_gene_variant MELA-AU 1 215791367 215791367 single base substitution C T intron_variant MELA-AU 1 215791367 215791367 single base substitution C T upstream_gene_variant MELA-AU 1 215792056 215792056 single base substitution A T exon_variant MELA-AU 1 215792056 215792056 single base substitution A T intron_variant MELA-AU 1 215792358 215792358 single base substitution C T downstream_gene_variant MELA-AU 1 215792358 215792358 single base substitution C T exon_variant MELA-AU 1 215792358 215792358 single base substitution C T stop_gained Q565* 1693C>T MELA-AU 1 215793523 215793523 single base substitution T C downstream_gene_variant MELA-AU 1 215793523 215793523 single base substitution T C exon_variant MELA-AU 1 215793523 215793523 single base substitution T C missense_variant F671L 2011T>C MELA-AU 1 215793525 215793525 single base substitution C T downstream_gene_variant MELA-AU 1 215793525 215793525 single base substitution C T exon_variant MELA-AU 1 215793525 215793525 single base substitution C T synonymous_variant F671F 2013C>T MELA-AU 1 215793804 215793804 single base substitution C T downstream_gene_variant MELA-AU 1 215793804 215793804 single base substitution C T exon_variant MELA-AU 1 215793804 215793804 single base substitution C T synonymous_variant F764F 2292C>T MELA-AU 1 215793987 215793987 single base substitution C T 3_prime_UTR_variant MELA-AU 1 215793987 215793987 single base substitution C T downstream_gene_variant MELA-AU 1 215793987 215793987 single base substitution C T exon_variant MELA-AU 1 215794072 215794072 single base substitution C T 3_prime_UTR_variant MELA-AU 1 215794072 215794072 single base substitution C T downstream_gene_variant MELA-AU 1 215794072 215794072 single base substitution C T exon_variant MELA-AU 1 215796072 215796072 single base substitution T A downstream_gene_variant MELA-AU 1 215796080 215796080 single base substitution T C downstream_gene_variant MELA-AU 1 215796482 215796482 single base substitution A G downstream_gene_variant MELA-AU 1 215798199 215798199 single base substitution C T downstream_gene_variant MELA-AU 1 215799213 215799213 single base substitution C G downstream_gene_variant MELA-AU 1 215799279 215799279 single base substitution G A downstream_gene_variant MELA-AU 1 215799959 215799959 single base substitution C T downstream_gene_variant ORCA-IN 1 215760724 215760724 single base substitution G A intron_variant ORCA-IN 1 215764633 215764633 single base substitution C T intron_variant ORCA-IN 1 215764685 215764685 single base substitution C T intron_variant ORCA-IN 1 215767315 215767315 single base substitution C T intron_variant ORCA-IN 1 215775832 215775832 deletion of <=200bp T - intron_variant ORCA-IN 1 215777314 215777314 single base substitution C T intron_variant ORCA-IN 1 215790225 215790225 single base substitution G C intron_variant ORCA-IN 1 215790225 215790225 single base substitution G C upstream_gene_variant OV-AU 1 215737830 215737830 single base substitution C T upstream_gene_variant OV-AU 1 215738683 215738683 single base substitution T G upstream_gene_variant OV-AU 1 215740555 215740555 single base substitution G C upstream_gene_variant OV-AU 1 215743586 215743586 single base substitution T C intron_variant OV-AU 1 215743586 215743586 single base substitution T C upstream_gene_variant OV-AU 1 215754612 215754612 single base substitution A T downstream_gene_variant OV-AU 1 215754612 215754612 single base substitution A T intron_variant OV-AU 1 215756986 215756986 single base substitution G T downstream_gene_variant OV-AU 1 215756986 215756986 single base substitution G T intron_variant OV-AU 1 215762353 215762353 single base substitution G A intron_variant OV-AU 1 215769028 215769028 single base substitution T C intron_variant OV-AU 1 215769257 215769257 single base substitution A G intron_variant OV-AU 1 215774042 215774042 single base substitution T C intron_variant OV-AU 1 215774042 215774042 single base substitution T C upstream_gene_variant OV-AU 1 215780598 215780598 single base substitution C G intron_variant OV-AU 1 215787387 215787387 single base substitution T G intron_variant OV-AU 1 215787387 215787387 single base substitution T G upstream_gene_variant OV-AU 1 215791413 215791413 single base substitution T G intron_variant OV-AU 1 215791413 215791413 single base substitution T G upstream_gene_variant OV-AU 1 215793836 215793836 single base substitution C T downstream_gene_variant OV-AU 1 215793836 215793836 single base substitution C T exon_variant OV-AU 1 215793836 215793836 single base substitution C T missense_variant S775L 2324C>T OV-US 1 215747131 215747131 single base substitution T G missense_variant F1C 2T>G OV-US 1 215747131 215747131 single base substitution T G missense_variant F29C 86T>G PACA-AU 1 215736621 215736621 single base substitution G A upstream_gene_variant PACA-AU 1 215741924 215741924 single base substitution C G intron_variant PACA-AU 1 215748714 215748714 single base substitution C G intron_variant PACA-AU 1 215750270 215750270 single base substitution A G intron_variant PACA-AU 1 215754199 215754199 single base substitution T A intron_variant PACA-AU 1 215754600 215754603 deletion of <=200bp AAAC - downstream_gene_variant PACA-AU 1 215754600 215754603 deletion of <=200bp AAAC - intron_variant PACA-AU 1 215755265 215755265 deletion of <=200bp A - downstream_gene_variant PACA-AU 1 215755265 215755265 deletion of <=200bp A - intron_variant PACA-AU 1 215764994 215764994 single base substitution C G intron_variant PACA-AU 1 215766584 215766584 insertion of <=200bp - TG intron_variant PACA-AU 1 215768436 215768436 single base substitution C A intron_variant PACA-AU 1 215775541 215775546 deletion of <=200bp CAAGTT - splice_donor_variant PACA-AU 1 215776268 215776268 deletion of <=200bp A - intron_variant PACA-AU 1 215777619 215777619 single base substitution G A missense_variant M428I 1284G>A PACA-AU 1 215777619 215777619 single base substitution G A missense_variant M59I 177G>A PACA-AU 1 215778728 215778728 single base substitution T G intron_variant PACA-AU 1 215791219 215791220 deletion of <=200bp AT - intron_variant PACA-AU 1 215791219 215791220 deletion of <=200bp AT - upstream_gene_variant PACA-AU 1 215799481 215799481 single base substitution A G downstream_gene_variant PACA-CA 1 215737837 215737837 single base substitution A T upstream_gene_variant PACA-CA 1 215738420 215738420 single base substitution G A upstream_gene_variant PACA-CA 1 215739260 215739260 insertion of <=200bp - T upstream_gene_variant PACA-CA 1 215758063 215758063 single base substitution T C downstream_gene_variant PACA-CA 1 215758063 215758063 single base substitution T C intron_variant PACA-CA 1 215759486 215759486 single base substitution C T downstream_gene_variant PACA-CA 1 215759486 215759486 single base substitution C T intron_variant PACA-CA 1 215772527 215772527 insertion of <=200bp - T intron_variant PACA-CA 1 215772527 215772527 insertion of <=200bp - T upstream_gene_variant PACA-CA 1 215774260 215774260 single base substitution T C intron_variant PACA-CA 1 215774260 215774260 single base substitution T C upstream_gene_variant PACA-CA 1 215774986 215774986 single base substitution A T intron_variant PACA-CA 1 215774986 215774986 single base substitution A T upstream_gene_variant PACA-CA 1 215775342 215775342 single base substitution T A intron_variant PACA-CA 1 215775342 215775342 single base substitution T A upstream_gene_variant PACA-CA 1 215775410 215775410 single base substitution A C intron_variant PACA-CA 1 215775410 215775410 single base substitution A C upstream_gene_variant PACA-CA 1 215776453 215776453 single base substitution G T intron_variant PACA-CA 1 215776454 215776454 single base substitution G T intron_variant PACA-CA 1 215781102 215781102 single base substitution C T intron_variant PACA-CA 1 215782562 215782562 single base substitution G T intron_variant PACA-CA 1 215792506 215792506 single base substitution C T downstream_gene_variant PACA-CA 1 215792506 215792506 single base substitution C T exon_variant PACA-CA 1 215792506 215792506 single base substitution C T missense_variant P587S 1759C>T PACA-CA 1 215795123 215795123 single base substitution T G 3_prime_UTR_variant PACA-CA 1 215795123 215795123 single base substitution T G downstream_gene_variant PACA-CA 1 215797240 215797241 deletion of <=200bp TG - downstream_gene_variant PAEN-AU 1 215782267 215782267 single base substitution T C intron_variant PAEN-IT 1 215736234 215736234 single base substitution C T upstream_gene_variant PAEN-IT 1 215764158 215764158 single base substitution C T intron_variant PBCA-DE 1 215781838 215781838 insertion of <=200bp - T intron_variant PBCA-DE 1 215788334 215788334 deletion of <=200bp T - intron_variant PBCA-DE 1 215788334 215788334 deletion of <=200bp T - upstream_gene_variant PBCA-DE 1 215788670 215788670 deletion of <=200bp A - intron_variant PBCA-DE 1 215788670 215788670 deletion of <=200bp A - upstream_gene_variant PBCA-DE 1 215793902 215793902 single base substitution C A downstream_gene_variant PBCA-DE 1 215793902 215793902 single base substitution C A exon_variant PBCA-DE 1 215793902 215793902 single base substitution C A missense_variant T797N 2390C>A PBCA-DE 1 215796197 215796197 insertion of <=200bp - TTATT downstream_gene_variant PRAD-CA 1 215757519 215757519 single base substitution A T downstream_gene_variant PRAD-CA 1 215757519 215757519 single base substitution A T intron_variant PRAD-CA 1 215764685 215764685 single base substitution C T intron_variant PRAD-CA 1 215766405 215766405 single base substitution A C intron_variant PRAD-UK 1 215742595 215742597 deletion of <=200bp GCT - intron_variant PRAD-UK 1 215742595 215742597 deletion of <=200bp GCT - upstream_gene_variant PRAD-UK 1 215742754 215742754 single base substitution G C intron_variant PRAD-UK 1 215742754 215742754 single base substitution G C upstream_gene_variant PRAD-UK 1 215743811 215743811 single base substitution G C intron_variant PRAD-UK 1 215743811 215743811 single base substitution G C upstream_gene_variant PRAD-UK 1 215753005 215753005 single base substitution C A intron_variant PRAD-UK 1 215755859 215755859 single base substitution T A downstream_gene_variant PRAD-UK 1 215755859 215755859 single base substitution T A intron_variant PRAD-UK 1 215762568 215762574 deletion of <=200bp CCTGGGC - intron_variant PRAD-UK 1 215764103 215764103 single base substitution T A intron_variant PRAD-UK 1 215790693 215790693 single base substitution G T intron_variant PRAD-UK 1 215790693 215790693 single base substitution G T upstream_gene_variant PRAD-US 1 215793922 215793922 deletion of <=200bp A - downstream_gene_variant PRAD-US 1 215793922 215793922 deletion of <=200bp A - exon_variant PRAD-US 1 215793922 215793922 deletion of <=200bp A - frameshift_variant K804 READ-US 1 215777597 215777597 single base substitution G A missense_variant R421Q 1262G>A READ-US 1 215777597 215777597 single base substitution G A missense_variant R52Q 155G>A READ-US 1 215785252 215785252 single base substitution G A synonymous_variant S148S 444G>A READ-US 1 215785252 215785252 single base substitution G A synonymous_variant S517S 1551G>A READ-US 1 215799151 215799151 single base substitution C T downstream_gene_variant RECA-EU 1 215762042 215762042 single base substitution A G intron_variant RECA-EU 1 215766518 215766518 single base substitution T C intron_variant RECA-EU 1 215771347 215771347 single base substitution T A intron_variant RECA-EU 1 215771347 215771347 single base substitution T A upstream_gene_variant RECA-EU 1 215771414 215771414 single base substitution A G intron_variant RECA-EU 1 215771414 215771414 single base substitution A G upstream_gene_variant RECA-EU 1 215772271 215772271 single base substitution A C intron_variant RECA-EU 1 215772271 215772271 single base substitution A C upstream_gene_variant RECA-EU 1 215788399 215788399 single base substitution T C intron_variant RECA-EU 1 215788399 215788399 single base substitution T C upstream_gene_variant RECA-EU 1 215790263 215790263 single base substitution G C intron_variant RECA-EU 1 215790263 215790263 single base substitution G C upstream_gene_variant SKCA-BR 1 215735822 215735822 single base substitution G A upstream_gene_variant SKCA-BR 1 215737429 215737429 single base substitution T C upstream_gene_variant SKCA-BR 1 215740334 215740334 single base substitution T G upstream_gene_variant SKCA-BR 1 215741258 215741258 single base substitution C G intron_variant SKCA-BR 1 215742468 215742468 insertion of <=200bp - CT intron_variant SKCA-BR 1 215742468 215742468 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 1 215748467 215748467 single base substitution T G intron_variant SKCA-BR 1 215751766 215751766 single base substitution G A intron_variant SKCA-BR 1 215754294 215754294 single base substitution T A intron_variant SKCA-BR 1 215760871 215760871 single base substitution A G intron_variant SKCA-BR 1 215763056 215763056 single base substitution G A intron_variant SKCA-BR 1 215763816 215763816 single base substitution C T intron_variant SKCA-BR 1 215764629 215764629 insertion of <=200bp - TTTCC intron_variant SKCA-BR 1 215767199 215767200 deletion of <=200bp CT - intron_variant SKCA-BR 1 215776577 215776577 single base substitution A G intron_variant SKCA-BR 1 215776595 215776595 single base substitution T A intron_variant SKCA-BR 1 215776691 215776691 single base substitution A C intron_variant SKCA-BR 1 215781619 215781619 single base substitution C T intron_variant SKCA-BR 1 215787407 215787407 single base substitution C T intron_variant SKCA-BR 1 215787407 215787407 single base substitution C T upstream_gene_variant SKCA-BR 1 215791032 215791032 single base substitution C T intron_variant SKCA-BR 1 215791032 215791032 single base substitution C T upstream_gene_variant SKCA-BR 1 215793914 215793914 single base substitution C T downstream_gene_variant SKCA-BR 1 215793914 215793914 single base substitution C T exon_variant SKCA-BR 1 215793914 215793914 single base substitution C T missense_variant P801L 2402C>T SKCA-BR 1 215796423 215796423 single base substitution G A downstream_gene_variant SKCM-US 1 215751065 215751065 single base substitution C T missense_variant P104S 310C>T SKCM-US 1 215751065 215751065 single base substitution C T missense_variant P76S 226C>T SKCM-US 1 215751403 215751403 single base substitution C T missense_variant H126Y 376C>T SKCM-US 1 215751403 215751403 single base substitution C T missense_variant H98Y 292C>T SKCM-US 1 215768791 215768791 single base substitution A C missense_variant N304T 911A>C SKCM-US 1 215777493 215777493 single base substitution C T synonymous_variant I17I 51C>T SKCM-US 1 215777493 215777493 single base substitution C T synonymous_variant I386I 1158C>T SKCM-US 1 215777580 215777580 single base substitution G A synonymous_variant Q415Q 1245G>A SKCM-US 1 215777580 215777580 single base substitution G A synonymous_variant Q46Q 138G>A SKCM-US 1 215781439 215781439 single base substitution C T missense_variant P464S 1390C>T SKCM-US 1 215781439 215781439 single base substitution C T missense_variant P95S 283C>T SKCM-US 1 215792594 215792594 single base substitution C T downstream_gene_variant SKCM-US 1 215792594 215792594 single base substitution C T exon_variant SKCM-US 1 215792594 215792594 single base substitution C T missense_variant S616F 1847C>T SKCM-US 1 215793523 215793523 single base substitution T C downstream_gene_variant SKCM-US 1 215793523 215793523 single base substitution T C exon_variant SKCM-US 1 215793523 215793523 single base substitution T C missense_variant F671L 2011T>C SKCM-US 1 215793565 215793565 single base substitution C T downstream_gene_variant SKCM-US 1 215793565 215793565 single base substitution C T exon_variant SKCM-US 1 215793565 215793565 single base substitution C T missense_variant P685S 2053C>T SKCM-US 1 215793804 215793804 single base substitution C T downstream_gene_variant SKCM-US 1 215793804 215793804 single base substitution C T exon_variant SKCM-US 1 215793804 215793804 single base substitution C T synonymous_variant F764F 2292C>T SKCM-US 1 215793886 215793886 single base substitution C T downstream_gene_variant SKCM-US 1 215793886 215793886 single base substitution C T exon_variant SKCM-US 1 215793886 215793886 single base substitution C T missense_variant P792S 2374C>T SKCM-US 1 215799198 215799198 single base substitution C T downstream_gene_variant STAD-US 1 215747171 215747171 insertion of <=200bp - T frameshift_variant S14S? STAD-US 1 215747171 215747171 insertion of <=200bp - T frameshift_variant S42S? STAD-US 1 215751371 215751371 single base substitution T C missense_variant L115S 344T>C STAD-US 1 215751371 215751371 single base substitution T C missense_variant L87S 260T>C STAD-US 1 215777493 215777493 single base substitution C T synonymous_variant I17I 51C>T STAD-US 1 215777493 215777493 single base substitution C T synonymous_variant I386I 1158C>T STAD-US 1 215781446 215781446 single base substitution C T missense_variant A466V 1397C>T STAD-US 1 215781446 215781446 single base substitution C T missense_variant A97V 290C>T STAD-US 1 215785202 215785202 single base substitution A G missense_variant I132V 394A>G STAD-US 1 215785202 215785202 single base substitution A G missense_variant I501V 1501A>G STAD-US 1 215785250 215785250 single base substitution T C missense_variant S148P 442T>C STAD-US 1 215785250 215785250 single base substitution T C missense_variant S517P 1549T>C STAD-US 1 215792267 215792267 single base substitution C A 3_prime_UTR_variant STAD-US 1 215792267 215792267 single base substitution C A exon_variant STAD-US 1 215792267 215792267 single base substitution C A synonymous_variant S534S 1602C>A STAD-US 1 215792499 215792499 single base substitution A C downstream_gene_variant STAD-US 1 215792499 215792499 single base substitution A C exon_variant STAD-US 1 215792499 215792499 single base substitution A C synonymous_variant V584V 1752A>C STAD-US 1 215792534 215792534 single base substitution T C downstream_gene_variant STAD-US 1 215792534 215792534 single base substitution T C exon_variant STAD-US 1 215792534 215792534 single base substitution T C missense_variant L596P 1787T>C STAD-US 1 215793440 215793440 single base substitution C T downstream_gene_variant STAD-US 1 215793440 215793440 single base substitution C T exon_variant STAD-US 1 215793440 215793440 single base substitution C T missense_variant T643I 1928C>T STAD-US 1 215793628 215793628 single base substitution A G downstream_gene_variant STAD-US 1 215793628 215793628 single base substitution A G exon_variant STAD-US 1 215793628 215793628 single base substitution A G missense_variant I706V 2116A>G STAD-US 1 215793684 215793684 single base substitution T A downstream_gene_variant STAD-US 1 215793684 215793684 single base substitution T A exon_variant STAD-US 1 215793684 215793684 single base substitution T A missense_variant S724R 2172T>A STAD-US 1 215793881 215793881 single base substitution C T downstream_gene_variant STAD-US 1 215793881 215793881 single base substitution C T exon_variant STAD-US 1 215793881 215793881 single base substitution C T missense_variant A790V 2369C>T STAD-US 1 215793886 215793886 single base substitution C T downstream_gene_variant STAD-US 1 215793886 215793886 single base substitution C T exon_variant STAD-US 1 215793886 215793886 single base substitution C T missense_variant P792S 2374C>T STAD-US 1 215793922 215793922 deletion of <=200bp A - downstream_gene_variant STAD-US 1 215793922 215793922 deletion of <=200bp A - exon_variant STAD-US 1 215793922 215793922 deletion of <=200bp A - frameshift_variant K804 STAD-US 1 215799151 215799151 single base substitution C T downstream_gene_variant THCA-SA 1 215797021 215797021 single base substitution A C downstream_gene_variant THCA-US 1 215792548 215792548 single base substitution T C downstream_gene_variant THCA-US 1 215792548 215792548 single base substitution T C exon_variant THCA-US 1 215792548 215792548 single base substitution T C synonymous_variant L601L 1801T>C UCEC-US 1 215747166 215747166 single base substitution G T missense_variant D13Y 37G>T UCEC-US 1 215747166 215747166 single base substitution G T missense_variant D41Y 121G>T UCEC-US 1 215747445 215747445 single base substitution G A missense_variant R28Q 83G>A UCEC-US 1 215747445 215747445 single base substitution G A missense_variant R56Q 167G>A UCEC-US 1 215747460 215747460 single base substitution C A missense_variant A33D 98C>A UCEC-US 1 215747460 215747460 single base substitution C A missense_variant A61D 182C>A UCEC-US 1 215749301 215749301 single base substitution A G missense_variant K53E 157A>G UCEC-US 1 215749301 215749301 single base substitution A G missense_variant K81E 241A>G UCEC-US 1 215751056 215751056 single base substitution G A missense_variant G101R 301G>A UCEC-US 1 215751056 215751056 single base substitution G A missense_variant G73R 217G>A UCEC-US 1 215752442 215752442 single base substitution C A missense_variant P138H 413C>A UCEC-US 1 215752442 215752442 single base substitution C A missense_variant P166H 497C>A UCEC-US 1 215752457 215752457 single base substitution C T missense_variant T143M 428C>T UCEC-US 1 215752457 215752457 single base substitution C T missense_variant T171M 512C>T UCEC-US 1 215759845 215759845 single base substitution G T stop_gained E212* 634G>T UCEC-US 1 215759899 215759899 single base substitution G A missense_variant E230K 688G>A UCEC-US 1 215775447 215775447 single base substitution C T stop_gained R348* 1042C>T UCEC-US 1 215775447 215775447 single base substitution C T upstream_gene_variant UCEC-US 1 215777494 215777494 single base substitution G A missense_variant E18K 52G>A UCEC-US 1 215777494 215777494 single base substitution G A missense_variant E387K 1159G>A UCEC-US 1 215777552 215777552 single base substitution C T missense_variant T37I 110C>T UCEC-US 1 215777552 215777552 single base substitution C T missense_variant T406I 1217C>T UCEC-US 1 215777555 215777555 single base substitution T C missense_variant V38A 113T>C UCEC-US 1 215777555 215777555 single base substitution T C missense_variant V407A 1220T>C UCEC-US 1 215781387 215781387 single base substitution G A synonymous_variant T446T 1338G>A UCEC-US 1 215781387 215781387 single base substitution G A synonymous_variant T77T 231G>A UCEC-US 1 215792518 215792518 single base substitution G A downstream_gene_variant UCEC-US 1 215792518 215792518 single base substitution G A exon_variant UCEC-US 1 215792518 215792518 single base substitution G A missense_variant E591K 1771G>A UCEC-US 1 215792564 215792564 single base substitution G A downstream_gene_variant UCEC-US 1 215792564 215792564 single base substitution G A exon_variant UCEC-US 1 215792564 215792564 single base substitution G A missense_variant C606Y 1817G>A UCEC-US 1 215793426 215793426 single base substitution C T downstream_gene_variant UCEC-US 1 215793426 215793426 single base substitution C T exon_variant UCEC-US 1 215793426 215793426 single base substitution C T synonymous_variant T638T 1914C>T UCEC-US 1 215793560 215793560 single base substitution C T downstream_gene_variant UCEC-US 1 215793560 215793560 single base substitution C T exon_variant UCEC-US 1 215793560 215793560 single base substitution C T missense_variant A683V 2048C>T UCEC-US 1 215793708 215793708 single base substitution T C downstream_gene_variant UCEC-US 1 215793708 215793708 single base substitution T C exon_variant UCEC-US 1 215793708 215793708 single base substitution T C synonymous_variant A732A 2196T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand XHDG38 COSM4769672 c.2431C>T p.Q811* Substitution - Nonsense 1:215620601-215620601 + TCGA-EE-A2GE-06 COSM3483345 c.1245G>A p.Q415Q Substitution - coding silent 1:215604238-215604238 + CSCC-18-T COSM4534610 c.2104G>A p.G702R Substitution - Missense 1:215620274-215620274 + TCGA-BR-8680-01 COSM4028066 c.1752A>C p.V584V Substitution - coding silent 1:215619157-215619157 + TCGA-BR-8059-01 COSM4028069 c.2116A>G p.I706V Substitution - Missense 1:215620286-215620286 + ACINAR29 COSM1733866 c.683C>A p.T228N Substitution - Missense 1:215586551-215586551 + SW48 COSM1931022 c.434C>A p.S145Y Substitution - Missense 1:215579036-215579036 + TCGA-G4-6309-01 COSM1338792 c.478C>T p.R160W Substitution - Missense 1:215579080-215579080 + TCGA-AD-6964-01 COSM1338789 c.125_126insT p.S45fs*14 Insertion - Frameshift 1:215573827-215573828 + TCGA-AP-A059-01 COSM903820 c.2048C>T p.A683V Substitution - Missense 1:215620218-215620218 + TCGA-A5-A0VP-01 COSM903816 c.1338G>A p.T446T Substitution - coding silent 1:215608045-215608045 + T2963 COSM4694824 c.1804_1809delAGCACA p.T603_S604delTS Deletion - In frame 1:215619209-215619214 + TCGA-OL-A5RX-01 COSM3803863 c.2404C>T p.R802W Substitution - Missense 1:215620574-215620574 + ACC-3 COSM4143322 c.25T>G p.F9V Substitution - Missense 1:215567710-215567710 + TCGA-BR-8059-01 COSM4028070 c.2172T>A p.S724R Substitution - Missense 1:215620342-215620342 + YUKAT COSM5379626 c.2396C>T p.P799L Substitution - Missense 1:215620566-215620566 + TCGA-EE-A29D-06 COSM3483350 c.2053C>T p.P685S Substitution - Missense 1:215620223-215620223 + CSCC-7-T COSM3483346 c.1390C>T p.P464S Substitution - Missense 1:215608097-215608097 + S02347 COSM5694016 c.2436G>C p.E812D Substitution - Missense 1:215620606-215620606 + Pat_76_B COSM5845427 c.568G>A p.V190I Substitution - Missense 1:215579941-215579941 + CHC1596T COSM4788897 c.1915C>G p.H639D Substitution - Missense 1:215620085-215620085 + TCGA-AA-A010-01 COSM88583 c.410G>A p.R137H Substitution - Missense 1:215579012-215579012 + TCGA-BR-4361-01 COSM4028067 c.1787T>C p.L596P Substitution - Missense 1:215619192-215619192 + PD24215a COSM5801888 c.2311_2312delCC p.P771fs*14 Deletion - Frameshift 1:215620481-215620482 + 7285 COSM5613901 c.1097A>T p.D366V Substitution - Missense 1:215602160-215602160 + TCGA-CG-4476-01 COSM4028072 c.2374C>T p.P792S Substitution - Missense 1:215620544-215620544 + 2492722 COSM5723533 c.2207C>T p.S736L Substitution - Missense 1:215620377-215620377 + SC_9072 COSM5572115 c.586T>G p.W196G Substitution - Missense 1:215579959-215579959 + T2197 COSM4694822 c.874G>A p.V292M Substitution - Missense 1:215595412-215595412 + B103 COSM1748151 c.1891C>T p.Q631* Substitution - Nonsense 1:215620061-215620061 + TCGA-AD-5900-01 COSM1338798 c.893G>T p.G298V Substitution - Missense 1:215595431-215595431 + MOLT-4 COSM1683595 c.1886_1886+1insTAG p.S629_L630insS Insertion - In frame 1:215619291-215619292 + YUKLAB COSM1689831 c.2063G>T p.G688V Substitution - Missense 1:215620233-215620233 + TCGA-B5-A0JY-01 COSM903819 c.1914C>T p.T638T Substitution - coding silent 1:215620084-215620084 + TCGA-HF-7132-01 COSM4028063 c.1501A>G p.I501V Substitution - Missense 1:215611860-215611860 + S02292 COSM5687175 c.2157G>T p.L719F Substitution - Missense 1:215620327-215620327 + 3206A7_009_T COSM5041259 c.1682A>G p.N561S Substitution - Missense 1:215619005-215619005 + BCM423T COSM4802627 c.1083T>C p.H361H Substitution - coding silent 1:215602146-215602146 + BRC31 COSM5025511 c.733G>C p.D245H Substitution - Missense 1:215586601-215586601 + HCT15 COSM903803 c.167G>A p.R56Q Substitution - Missense 1:215574102-215574102 + TCGA-EE-A29E-06 COSM3483341 c.310C>T p.P104S Substitution - Missense 1:215577722-215577722 + 2492723 COSM5723533 c.2207C>T p.S736L Substitution - Missense 1:215620377-215620377 + LUAD-5V8LT COSM400956 c.1138A>T p.S380C Substitution - Missense 1:215602201-215602201 + ESCC_152 COSM5645312 c.1789G>A p.D597N Substitution - Missense 1:215619194-215619194 + VACO4S COSM4657110 c.792G>T p.Q264H Substitution - Missense 1:215586660-215586660 + Pat_41_B COSM1338801 c.2410delA p.S806fs*>10 Deletion - Frameshift 1:215620580-215620580 + TCGA-B5-A0K9-01 COSM903815 c.1297C>T p.H433Y Substitution - Missense 1:215604290-215604290 + TCGA-IR-A3LI-01 COSM4845933 c.790C>T p.Q264* Substitution - Nonsense 1:215586658-215586658 + Pat_06_A COSM5115746 c.190A>T p.I64F Substitution - Missense 1:215575907-215575907 + TCGA-BR-4184-01 COSM4028071 c.2369C>T p.A790V Substitution - Missense 1:215620539-215620539 + TCGA-BR-A4IY-01 COSM4028068 c.1928C>T p.T643I Substitution - Missense 1:215620098-215620098 + TCGA-AP-A051-01 COSM903804 c.182C>A p.A61D Substitution - Missense 1:215574117-215574117 + S02139 COSM1662398 c.2285G>T p.G762V Substitution - Missense 1:215620455-215620455 + AOCS-149-1-7 COSM3943451 c.2324C>T p.S775L Substitution - Missense 1:215620494-215620494 + SNU-175 COSM678645 c.1657C>T p.R553C Substitution - Missense 1:215618980-215618980 + DLD1 COSM4622516 c.2222G>T p.R741M Substitution - Missense 1:215620392-215620392 + C467 COSM4441871 c.1715C>T p.A572V Substitution - Missense 1:215619038-215619038 + TCGA-D9-A6EA-06 COSM4028072 c.2374C>T p.P792S Substitution - Missense 1:215620544-215620544 + TCGA-AX-A05Z-01 COSM903806 c.301G>A p.G101R Substitution - Missense 1:215577713-215577713 + TCGA-A5-A0GI-01 COSM903803 c.167G>A p.R56Q Substitution - Missense 1:215574102-215574102 + ccRCC-7 COSM1662398 c.2285G>T p.G762V Substitution - Missense 1:215620455-215620455 + ESCC_10 COSM5623753 c.1352G>C p.R451P Substitution - Missense 1:215608059-215608059 + EGC15 COSM1338789 c.125_126insT p.S45fs*14 Insertion - Frameshift 1:215573827-215573828 + TCGA-DJ-A1QF-01 COSM3369533 c.1801T>C p.L601L Substitution - coding silent 1:215619206-215619206 + TCGA-AA-A00N-01 COSM275658 c.634G>T p.E212* Substitution - Nonsense 1:215586502-215586502 + TCGA-23-2072-01 COSM71278 c.1505A>G p.Q502R Substitution - Missense 1:215611864-215611864 + ACINAR01 COSM1338801 c.2410delA p.S806fs*>10 Deletion - Frameshift 1:215620580-215620580 + LUAD-NYU802 COSM392055 c.379delG p.G127fs*13 Deletion - Frameshift 1:215578063-215578063 + TCGA-EI-6917-01 COSM3418736 c.1262G>A p.R421Q Substitution - Missense 1:215604255-215604255 + RK020_C01 COSM1626806 c.1490A>C p.Q497P Substitution - Missense 1:215611849-215611849 + TCGA-66-2768-01 COSM678644 c.2242G>T p.E748* Substitution - Nonsense 1:215620412-215620412 + TCGA-CM-6171-01 COSM1338801 c.2410delA p.S806fs*>10 Deletion - Frameshift 1:215620580-215620580 + I2L-P19Tb-Tumor-Organoid COSM1338790 c.126delT p.S45fs*4 Deletion - Frameshift 1:215573828-215573828 + TCGA-AP-A0LM-01 COSM275658 c.634G>T p.E212* Substitution - Nonsense 1:215586502-215586502 + SWE-41 COSM1179951 c.662C>G p.T221R Substitution - Missense 1:215586530-215586530 + TCGA-B6-A0X4-01 COSM425287 c.725C>T p.P242L Substitution - Missense 1:215586593-215586593 + TCGA-BR-4368-01 COSM4028065 c.1602C>A p.S534S Substitution - coding silent 1:215618925-215618925 + B103-Tumor COSM1748151 c.1891C>T p.Q631* Substitution - Nonsense 1:215620061-215620061 + TCGA-EE-A29L-06 COSM3483351 c.2292C>T p.F764F Substitution - coding silent 1:215620462-215620462 + TCGA-AA-3502-01 COSM1338796 c.687C>T p.I229I Substitution - coding silent 1:215586555-215586555 + PTC-54C COSM4143322 c.25T>G p.F9V Substitution - Missense 1:215567710-215567710 + PD4092a COSM161874 c.1043G>T p.R348L Substitution - Missense 1:215602106-215602106 + TCGA-AM-5821-01 COSM3750862 c.2322G>A p.A774A Substitution - coding silent 1:215620492-215620492 + TCGA-AG-3892-01 COSM169107 c.340G>T p.E114* Substitution - Nonsense 1:215578024-215578024 + 587228 COSM240319 c.350G>A p.R117H Substitution - Missense 1:215578034-215578034 + YUWAND COSM1689830 c.1339T>G p.W447G Substitution - Missense 1:215608046-215608046 + HCC076T COSM5822072 c.2119T>A p.S707T Substitution - Missense 1:215620289-215620289 + TCGA-D1-A15X-01 COSM903808 c.512C>T p.T171M Substitution - Missense 1:215579114-215579114 + ME009T COSM222643 c.1745A>T p.K582M Substitution - Missense 1:215619068-215619068 + 16246 COSM5613902 c.1638G>C p.R546S Substitution - Missense 1:215618961-215618961 + TCGA-BT-A42C-01 COSM4390523 c.1627G>A p.G543R Substitution - Missense 1:215618950-215618950 + S02375 COSM5696340 c.1028A>G p.Q343R Substitution - Missense 1:215602091-215602091 + LUAD-NYU184 COSM370688 c.179G>C p.G60A Substitution - Missense 1:215574114-215574114 + Patient1_Tu COSM1235645 c.385T>G p.L129V Substitution - Missense 1:215578069-215578069 + 587376 COSM1211692 c.2236G>T p.E746* Substitution - Nonsense 1:215620406-215620406 + sysucc-1317T COSM5448411 c.696A>G p.V232V Substitution - coding silent 1:215586564-215586564 + TCGA-18-5592-01 COSM678648 c.739G>A p.D247N Substitution - Missense 1:215586607-215586607 + TCGA-A6-6653-01 COSM1338793 c.481G>A p.G161R Substitution - Missense 1:215579083-215579083 + H322T COSM1194950 c.1232C>A p.P411H Substitution - Missense 1:215604225-215604225 + TCGA-EE-A20C-06 COSM3483349 c.2011T>C p.F671L Substitution - Missense 1:215620181-215620181 + NYU1353 COSM4770883 c.1004G>A p.G335E Substitution - Missense 1:215601937-215601937 + PD11372a COSM5793117 c.2395C>G p.P799A Substitution - Missense 1:215620565-215620565 + 2492721 COSM5723533 c.2207C>T p.S736L Substitution - Missense 1:215620377-215620377 + TCGA-CM-6171-01 COSM1338799 c.1034_1035insC p.R348fs*5 Insertion - Frameshift 1:215602097-215602098 + LUAD-5V8LT COSM400957 c.1798G>A p.D600N Substitution - Missense 1:215619203-215619203 + CHC1596T COSM4788897 c.1915C>G p.H639D Substitution - Missense 1:215620085-215620085 + LS174T COSM1338801 c.2410delA p.S806fs*>10 Deletion - Frameshift 1:215620580-215620580 + 585258 COSM321148 c.1165G>T p.A389S Substitution - Missense 1:215604158-215604158 + TCGA-13-1499-01 COSM75096 c.86T>G p.F29C Substitution - Missense 1:215573788-215573788 + TCGA-BR-6452-01 COSM4028061 c.344T>C p.L115S Substitution - Missense 1:215578028-215578028 + 113368 COSM325596 c.2246A>G p.N749S Substitution - Missense 1:215620416-215620416 + TCGA-22-5482-01 COSM678647 c.783G>T p.W261C Substitution - Missense 1:215586651-215586651 + B70-Tumor COSM3930637 c.774C>T p.I258I Substitution - coding silent 1:215586642-215586642 + TCGA-AD-6964-01 COSM1338794 c.542C>T p.P181L Substitution - Missense 1:215579915-215579915 + Pat_36_B COSM1338790 c.126delT p.S45fs*4 Deletion - Frameshift 1:215573828-215573828 + TCGA-G4-6586-01 COSM1338801 c.2410delA p.S806fs*>10 Deletion - Frameshift 1:215620580-215620580 + CSCC-56-T COSM3483341 c.310C>T p.P104S Substitution - Missense 1:215577722-215577722 + BD72T COSM5511643 c.183+7_183+9delATA p.? Unknown 1:215574125-215574127 + TCGA-D9-A6EA-06 COSM4398189 c.911A>C p.N304T Substitution - Missense 1:215595449-215595449 + 8016470 COSM3385743 c.1284G>A p.M428I Substitution - Missense 1:215604277-215604277 + SW48 COSM1338801 c.2410delA p.S806fs*>10 Deletion - Frameshift 1:215620580-215620580 + 2492720 COSM5723533 c.2207C>T p.S736L Substitution - Missense 1:215620377-215620377 + 61 COSM5735835 c.1108G>A p.A370T Substitution - Missense 1:215602171-215602171 + TCGA-EE-A2MD-06 COSM3483344 c.1158C>T p.I386I Substitution - coding silent 1:215604151-215604151 + ESCC_11 COSM903811 c.1042C>T p.R348* Substitution - Nonsense 1:215602105-215602105 + TCGA-D1-A103-01 COSM903814 c.1220T>C p.V407A Substitution - Missense 1:215604213-215604213 + TCGA-AN-A046-01 COSM3803859 c.1032G>A p.K344K Substitution - coding silent 1:215602095-215602095 + TCGA-66-2767-01 COSM678646 c.1159G>T p.E387* Substitution - Nonsense 1:215604152-215604152 + TCGA-BS-A0UV-01 COSM903821 c.2196T>C p.A732A Substitution - coding silent 1:215620366-215620366 + NCI-H322M COSM1194950 c.1232C>A p.P411H Substitution - Missense 1:215604225-215604225 + T578 COSM4694823 c.1765G>A p.E589K Substitution - Missense 1:215619170-215619170 + TCGA-34-5231-01 COSM678645 c.1657C>T p.R553C Substitution - Missense 1:215618980-215618980 + TCGA-G4-6628-01 COSM1338797 c.796delG p.G267fs*15 Deletion - Frameshift 1:215586664-215586664 + TCGA-AP-A051-01 COSM903807 c.497C>A p.P166H Substitution - Missense 1:215579099-215579099 + TCGA-E9-A1R7-01 COSM1473399 c.922C>T p.Q308* Substitution - Nonsense 1:215595460-215595460 + TCGA-AP-A051-01 COSM903813 c.1217C>T p.T406I Substitution - Missense 1:215604210-215604210 + LUAD-CHTN-3090346 COSM356653 c.2056G>C p.E686Q Substitution - Missense 1:215620226-215620226 + PT46 COSM5928099 c.302G>A p.G101E Substitution - Missense 1:215577714-215577714 + WA16 COSM240319 c.350G>A p.R117H Substitution - Missense 1:215578034-215578034 + SJHGG117_A COSM4972003 c.316+5G>A p.? Unknown 1:215577733-215577733 + HCC023T COSM5817835 c.2032A>G p.R678G Substitution - Missense 1:215620202-215620202 + CML024T COSM5803132 c.1673G>C p.G558A Substitution - Missense 1:215618996-215618996 + PDA_007 COSM4998212 c.493C>A p.Q165K Substitution - Missense 1:215579095-215579095 + Pat_06_A COSM1338790 c.126delT p.S45fs*4 Deletion - Frameshift 1:215573828-215573828 + DLD1 COSM4622515 c.704A>G p.N235S Substitution - Missense 1:215586572-215586572 + PCSI_0038_Pa_X COSM3376962 c.1759C>T p.P587S Substitution - Missense 1:215619164-215619164 + TCGA-B5-A0JY-01 COSM903802 c.121G>T p.D41Y Substitution - Missense 1:215573823-215573823 + TCGA-CG-4442-01 COSM3483344 c.1158C>T p.I386I Substitution - coding silent 1:215604151-215604151 + TCGA-AP-A0LM-01 COSM903812 c.1159G>A p.E387K Substitution - Missense 1:215604152-215604152 + NB-3264 COSM1285693 c.1058A>C p.D353A Substitution - Missense 1:215602121-215602121 + TCGA-D3-A5GO-06 COSM3483343 c.376C>T p.H126Y Substitution - Missense 1:215578060-215578060 + BCM423T COSM4802627 c.1083T>C p.H361H Substitution - coding silent 1:215602146-215602146 + TCGA-G4-6309-01 COSM1338801 c.2410delA p.S806fs*>10 Deletion - Frameshift 1:215620580-215620580 + Pat_24_B COSM5845428 c.988C>T p.L330F Substitution - Missense 1:215601921-215601921 + TCGA-A7-A5ZV-01 COSM3803862 c.2176T>C p.L726L Substitution - coding silent 1:215620346-215620346 + EGC15 COSM5053091 c.683C>T p.T228I Substitution - Missense 1:215586551-215586551 + TCGA-ER-A2NH-06 COSM3483346 c.1390C>T p.P464S Substitution - Missense 1:215608097-215608097 + TCGA-D8-A27G-01 COSM3803861 c.1855C>T p.Q619* Substitution - Nonsense 1:215619260-215619260 + TCGA-D8-A1XQ-01 COSM5225381 c.1557delA p.R521fs*18 Deletion - Frameshift 1:215611916-215611916 + CHEWS018 COSM4576889 c.2312C>T p.P771L Substitution - Missense 1:215620482-215620482 + ESCC_BICR_070T COSM5444853 c.2086G>T p.E696* Substitution - Nonsense 1:215620256-215620256 + SA089 COSM213539 c.1793A>C p.Q598P Substitution - Missense 1:215619198-215619198 + TCGA-DK-A3IU-01 COSM3789479 c.922C>G p.Q308E Substitution - Missense 1:215595460-215595460 + TCGA-AP-A051-01 COSM903811 c.1042C>T p.R348* Substitution - Nonsense 1:215602105-215602105 + SA083 COSM213455 c.2027T>A p.L676* Substitution - Nonsense 1:215620197-215620197 + TCGA-EI-6917-01 COSM3418737 c.1551G>A p.S517S Substitution - coding silent 1:215611910-215611910 + S02255 COSM5680311 c.1052A>G p.D351G Substitution - Missense 1:215602115-215602115 + TCGA-CZ-5459-01 COSM463928 c.1111C>T p.L371L Substitution - coding silent 1:215602174-215602174 + OCC06PT COSM88583 c.410G>A p.R137H Substitution - Missense 1:215579012-215579012 + RK023_C01 COSM1626807 c.2123A>C p.E708A Substitution - Missense 1:215620293-215620293 + T3024 COSM4694821 c.600A>G p.A200A Substitution - coding silent 1:215579973-215579973 + I2L-P19Tb-Tumor-Biopsy COSM1338790 c.126delT p.S45fs*4 Deletion - Frameshift 1:215573828-215573828 + YURAY COSM5379625 c.1009A>G p.I337V Substitution - Missense 1:215601942-215601942 + CSCC-40-T COSM4466080 c.1415C>T p.S472F Substitution - Missense 1:215608122-215608122 + TCGA-CA-6717-01 COSM1338800 c.1224G>A p.G408G Substitution - coding silent 1:215604217-215604217 + S48_pre COSM5574702 c.1289C>A p.S430* Substitution - Nonsense 1:215604282-215604282 + TCGA-AX-A0J0-01 COSM903809 c.688G>A p.E230K Substitution - Missense 1:215586556-215586556 + TCGA-IP-7968-01 COSM4028062 c.1397C>T p.A466V Substitution - Missense 1:215608104-215608104 + LC_C34 COSM1185732 c.1318G>A p.D440N Substitution - Missense 1:215608025-215608025 + TCGA-AX-A0J1-01 COSM903817 c.1771G>A p.E591K Substitution - Missense 1:215619176-215619176 + TCGA-EE-A2MP-06 COSM3483348 c.1847C>T p.S616F Substitution - Missense 1:215619252-215619252 + TCGA-B5-A11E-01 COSM903818 c.1817G>A p.C606Y Substitution - Missense 1:215619222-215619222 + TCGA-DI-A0WH-01 COSM903810 c.702A>G p.L234L Substitution - coding silent 1:215586570-215586570 + TCGA-LQ-A4E4-01 COSM3803860 c.1649G>C p.R550T Substitution - Missense 1:215618972-215618972 + TCGA-A1-A0SP-01 COSM1473398 c.553C>G p.R185G Substitution - Missense 1:215579926-215579926 + TCGA-A8-A06Q-01 COSM425288 c.1541G>C p.R514T Substitution - Missense 1:215611900-215611900 + LOVO COSM1338801 c.2410delA p.S806fs*>10 Deletion - Frameshift 1:215620580-215620580 + LUAD-E00918 COSM364940 c.2317C>T p.L773L Substitution - coding silent 1:215620487-215620487 + LS180 COSM1338801 c.2410delA p.S806fs*>10 Deletion - Frameshift 1:215620580-215620580 + TCGA-BR-6452-01 COSM4028064 c.1549T>C p.S517P Substitution - Missense 1:215611908-215611908 + T3064 COSM1931049 c.1658G>A p.R553H Substitution - Missense 1:215618981-215618981 + BD124T COSM5491280 c.1746G>T p.K582N Substitution - Missense 1:215619069-215619069 + TCGA-CA-6718-01 COSM1338791 c.166C>T p.R56* Substitution - Nonsense 1:215574101-215574101 + TCGA-BS-A0UV-01 COSM903805 c.241A>G p.K81E Substitution - Missense 1:215575958-215575958 + I2L-P19Ta-Tumor-Organoid COSM1338801 c.2410delA p.S806fs*>10 Deletion - Frameshift 1:215620580-215620580 + pfg016T COSM1338801 c.2410delA p.S806fs*>10 Deletion - Frameshift 1:215620580-215620580 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.335136;Hs.335139 1q41 613272 2401714|CGAP|BC094879|A/G|coding|Ala772Ala|2571|Validated; 2401714|CGAP|BC117188|A/G|coding|Ala774Ala|2510|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.D353A c.1058A>C 1 215775463 NB A C Missense p.E708A c.2123A>C 1 215793635 HC A C Missense p.Q497P c.1490A>C 1 215785191 HC A C Missense p.Q598P c.1793A>C 1 215792540 BRCA A - Frameshift p.S806Vfs*16 c.2416delA 1 215793922 STAD A G Missense p.K582R c.1745A>G 1 215792410 HNSC A G Missense p.N749S c.2246A>G 1 215793758 SCLC A G Missense p.Q502R c.1505A>G 1 215785206 OV A G Missense p.Y321C c.962A>G 1 215775237 HNSC A G SpliceAcceptorSNV . c.398-2A>G 1 215752341 HNSC A T Missense p.D362V c.1085A>T 1 215775490 HNSC A T Missense p.D366V c.1097A>T 1 215775502 NSCLC A T Missense p.K582M c.1745A>T 1 215792410 CM C A Synonymous p.S534S c.1602C>A 1 215792267 STAD C G Missense p.Q308E c.922C>G 1 215768802 BLCA C G Missense p.R185G c.553C>G 1 215753269 BRCA CTGTGCAGATAATAA - SpliceAcceptorDeletion . c.1311_1325delCTGTGCAGATAATAA 1 215781360 LUAD C T Missense p.P181S c.541C>T 1 215753257 CM C T Missense p.P242L c.725C>T 1 215759936 BRCA C T Missense p.P464S c.1390C>T 1 215781439 CM C T Missense p.P654S c.1960C>T 1 215793472 LUAD C T Missense p.P712S c.2134C>T 1 215793646 CM C T Missense p.P792S c.2374C>T 1 215793886 STAD C T Missense p.R553C c.1657C>T 1 215792322 LUSC C T Missense p.S517L c.1550C>T 1 215785251 CM C T Missense p.S616F c.1847C>T 1 215792594 CM C T Nonsense p.Q308* c.922C>T 1 215768802 BRCA C T Nonsense p.Q598* c.1792C>T 1 215792539 LUAD C T Synonymous p.F764F c.2292C>T 1 215793804 CM G A Missense p.D247N c.739G>A 1 215759950 LUSC G A Missense p.E477K c.1429G>A 1 215781478 CM G A Missense p.G391D c.1172G>A 1 215777507 HNSC G A Missense p.R56Q c.167G>A 1 215747445 UCEC G A Synonymous p.Q415Q c.1245G>A 1 215777580 CM G A Synonymous p.T446T c.1338G>A 1 215781387 UCEC G C Missense p.D245H c.733G>C 1 215759944 BRCA G C Missense p.R514T c.1541G>C 1 215785242 BRCA G C Missense p.R546S c.1638G>C 1 215792303 NSCLC G C Missense p.R658S c.1974G>C 1 215793486 LUAD G C Missense p.V684L c.2050G>C 1 215793562 LUAD G C Synonymous p.T221T c.663G>C 1 215759874 LUAD G T Missense p.A389S c.1165G>T 1 215777500 SCLC G T Missense p.G121C c.361G>T 1 215751388 LUAD G T Missense p.G161V c.482G>T 1 215752427 CM G T Missense p.G762V c.2285G>T 1 215793797 LUAD G T Missense p.Q526H c.1578G>T 1 215792243 LUAD G T Missense p.R33I c.98G>T 1 215747143 LUAD G T Missense p.R348L c.1043G>T 1 215775448 BRCA G T Missense p.S46I c.137G>T 1 215747182 LUAD G T Missense p.W261C c.783G>T 1 215759994 LUSC G T Nonsense p.E387* c.1159G>T 1 215777494 LUSC G T Nonsense p.E590* c.1768G>T 1 215792515 LUAD G T Nonsense p.E748* c.2242G>T 1 215793754 LUSC T A Nonsense p.L676* c.2027T>A 1 215793539 BRCA T C Missense p.F671L c.2011T>C 1 215793523 CM T C Missense p.V401A c.1202T>C 1 215777537 BRCA T C Synonymous p.L601L c.1801T>C 1 215792548 THCA T G Missense p.F29C c.86T>G 1 215747131 OV T G Missense p.V399G c.1196T>G 1 215777531 HNSC