Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 40525085 40525085 + Missense_Mutation SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr1:40525085C>T c.67C>T c.(67-69)Cat>Tat p.H23Y BLCA 1 40525127 40525127 + Missense_Mutation SNP A A C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr1:40525127A>C c.109A>C c.(109-111)Aaa>Caa p.K37Q BLCA 1 40525754 40525754 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr1:40525754A>G c.128A>G c.(127-129)tAt>tGt p.Y43C BLCA 1 40525816 40525816 + Missense_Mutation SNP G G C TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr1:40525816G>C c.190G>C c.(190-192)Gag>Cag p.E64Q BLCA 1 40529930 40529930 + Nonsense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr1:40529930C>G c.326C>G c.(325-327)tCa>tGa p.S109* BLCA 1 40529962 40529963 + In_Frame_Ins INS - - AGA TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr1:40529962_40529963insAGA c.358_359insAGA c.(358-360)gag>gAGAag p.121_122insK BLCA 1 40529967 40529967 + Missense_Mutation SNP G G C TCGA-FD-A62O-01A-11D-A30E-08 TCGA-FD-A62O-10A-01D-A30H-08 g.chr1:40529967G>C c.363G>C c.(361-363)aaG>aaC p.K121N BLCA 1 40535382 40535382 + IGR SNP G G C TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr1:40535382G>C BLCA 1 40536608 40536608 + IGR SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr1:40536608C>T BLCA 1 40536618 40536618 + IGR SNP G G C TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr1:40536618G>C BLCA 1 40537148 40537148 + IGR SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chr1:40537148C>G BLCA 1 40537150 40537150 + IGR SNP A A G TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr1:40537150A>G BRCA 1 40525103 40525103 + Missense_Mutation SNP C C G TCGA-AR-A0TU-01A-31D-A10G-09 TCGA-AR-A0TU-10A-01D-A10G-09 g.chr1:40525103C>G c.85C>G c.(85-87)Cgt>Ggt p.R29G BRCA 1 40530205 40530205 + Missense_Mutation SNP C C G TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 g.chr1:40530205C>G c.498C>G c.(496-498)aaC>aaG p.N166K BRCA 1 40536594 40536597 + IGR DEL AGTC AGTC - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr1:40536594_40536597delAGTC CESC 1 40536182 40536182 + IGR SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr1:40536182C>G CHOL 1 40530008 40530008 + Missense_Mutation SNP G G A TCGA-W6-AA0S-01A-11D-A417-09 TCGA-W6-AA0S-10A-01D-A41A-09 g.chr1:40530008G>A c.404G>A c.(403-405)aGc>aAc p.S135N COAD 1 40529971 40529971 + Silent SNP C C A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:40529971C>A c.367C>A c.(367-369)Cga>Aga p.R123R COAD 1 40533227 40533227 + Nonsense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:40533227G>T c.646G>T c.(646-648)Gaa>Taa p.E216* COAD 1 40536613 40536613 + IGR SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr1:40536613G>A COAD 1 40537135 40537135 + IGR SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:40537135T>C COAD 1 40537164 40537164 + IGR SNP G G A TCGA-CM-5341-01A-01D-1408-10 TCGA-CM-5341-10A-01D-1408-10 g.chr1:40537164G>A COADREAD 1 40529971 40529971 + Silent SNP C C A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:40529971C>A c.367C>A c.(367-369)Cga>Aga p.R123R COADREAD 1 40531973 40531973 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:40531973G>A c.611G>A c.(610-612)gGa>gAa p.G204E COADREAD 1 40533227 40533227 + Nonsense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:40533227G>T c.646G>T c.(646-648)Gaa>Taa p.E216* COADREAD 1 40536613 40536613 + IGR SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr1:40536613G>A COADREAD 1 40536642 40536642 + IGR SNP C C A TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr1:40536642C>A COADREAD 1 40537135 40537135 + IGR SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:40537135T>C COADREAD 1 40537164 40537164 + IGR SNP G G A TCGA-CM-5341-01A-01D-1408-10 TCGA-CM-5341-10A-01D-1408-10 g.chr1:40537164G>A DLBC 1 40535945 40535945 + IGR SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:40535945A>G HNSC 1 40525048 40525048 + Missense_Mutation SNP A A T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 g.chr1:40525048A>T c.30A>T c.(28-30)agA>agT p.R10S HNSC 1 40525772 40525772 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 g.chr1:40525772C>T c.146C>T c.(145-147)tCg>tTg p.S49L HNSC 1 40530008 40530008 + Missense_Mutation SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 g.chr1:40530008G>A c.404G>A c.(403-405)aGc>aAc p.S135N HNSC 1 40535434 40535434 + IGR SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:40535434G>A HNSC 1 40535481 40535481 + IGR SNP T T C TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 g.chr1:40535481T>C HNSC 1 40536136 40536136 + IGR SNP C C T TCGA-QK-A6V9-01A-11D-A34J-08 TCGA-QK-A6V9-10B-01D-A34M-08 g.chr1:40536136C>T HNSC 1 40537170 40537170 + IGR SNP A A C TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 g.chr1:40537170A>C KICH 1 40537164 40537164 + IGR SNP G G A TCGA-KM-8476-01A-11D-2310-10 TCGA-KM-8476-10A-01D-2311-10 g.chr1:40537164G>A KIPAN 1 40536545 40536545 + IGR SNP C C T TCGA-A4-8517-01A-11D-2396-08 TCGA-A4-8517-10A-01D-2396-08 g.chr1:40536545C>T KIPAN 1 40537164 40537164 + IGR SNP G G A TCGA-KM-8476-01A-11D-2310-10 TCGA-KM-8476-10A-01D-2311-10 g.chr1:40537164G>A KIRP 1 40536545 40536545 + IGR SNP C C T TCGA-A4-8517-01A-11D-2396-08 TCGA-A4-8517-10A-01D-2396-08 g.chr1:40536545C>T LUAD 1 40529940 40529940 + Silent SNP C C A TCGA-75-6207-01A-11D-1753-08 TCGA-75-6207-10A-01D-1753-08 g.chr1:40529940C>A c.336C>A c.(334-336)atC>atA p.I112I LUSC 1 40530017 40530017 + Missense_Mutation SNP T T C TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 g.chr1:40530017T>C c.413T>C c.(412-414)aTc>aCc p.I138T LUSC 1 40535455 40535455 + IGR SNP C C A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 g.chr1:40535455C>A OV 1 40530176 40530176 + Missense_Mutation SNP A A G TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 g.chr1:40530176A>G c.469A>G c.(469-471)Atg>Gtg p.M157V PRAD 1 40535451 40535451 + IGR DEL T T - TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 g.chr1:40535451delT READ 1 40531973 40531973 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:40531973G>A c.611G>A c.(610-612)gGa>gAa p.G204E READ 1 40536642 40536642 + IGR SNP C C A TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr1:40536642C>A SKCM 1 40525125 40525125 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr1:40525125C>T c.107C>T c.(106-108)tCa>tTa p.S36L SKCM 1 40529910 40529910 + Silent SNP C C T TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr1:40529910C>T c.306C>T c.(304-306)tcC>tcT p.S102S SKCM 1 40535481 40535481 + IGR SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr1:40535481T>C BLCA 14 103336772 103336772 + Silent SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 g.chr14:103336772G>A c.234G>A c.(232-234)gcG>gcA p.A78A BLCA 14 103369714 103369714 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 g.chr14:103369714G>A c.1083G>A c.(1081-1083)gtG>gtA p.V361V BLCA 14 103371850 103371850 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chr14:103371850G>A c.1436G>A c.(1435-1437)cGt>cAt p.R479H BLCA 14 103372111 103372111 + Missense_Mutation SNP C C G TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr14:103372111C>G c.1697C>G c.(1696-1698)cCc>cGc p.P566R BRCA 14 103336784 103336784 + Splice_Site SNP G G T TCGA-A2-A04R-01A-41D-A117-09 TCGA-A2-A04R-10B-01D-A10G-09 g.chr14:103336784G>T c.e2+1 BRCA 14 103352554 103352554 + Missense_Mutation SNP T T C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr14:103352554T>C c.599T>C c.(598-600)gTg>gCg p.V200A BRCA 14 103363658 103363658 + Nonsense_Mutation SNP C C T TCGA-C8-A274-01A-11D-A16D-09 TCGA-C8-A274-10A-01D-A16D-09 g.chr14:103363658C>T c.880C>T c.(880-882)Cag>Tag p.Q294* BRCA 14 103369680 103369681 + Frame_Shift_Ins INS - - A TCGA-C8-A274-01A-11D-A16D-09 TCGA-C8-A274-10A-01D-A16D-09 g.chr14:103369680_103369681insA c.1049_1050insA c.(1048-1053)atgaagfs p.MK350fs CESC 14 103336564 103336564 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 g.chr14:103336564C>T c.26C>T c.(25-27)tCt>tTt p.S9F CESC 14 103336564 103336564 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr14:103336564C>T c.26C>T c.(25-27)tCt>tTt p.S9F CESC 14 103369593 103369593 + Splice_Site SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 g.chr14:103369593G>A c.962G>A c.(961-963)cGa>cAa p.R321Q COAD 14 103336612 103336612 + Missense_Mutation SNP G G T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr14:103336612G>T c.74G>T c.(73-75)cGc>cTc p.R25L COAD 14 103336737 103336737 + Missense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr14:103336737G>A c.199G>A c.(199-201)Gag>Aag p.E67K COAD 14 103342740 103342740 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr14:103342740C>T c.448C>T c.(448-450)Cgt>Tgt p.R150C COAD 14 103342783 103342783 + Missense_Mutation SNP A A T TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr14:103342783A>T c.491A>T c.(490-492)gAc>gTc p.D164V COAD 14 103352552 103352552 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr14:103352552C>T c.597C>T c.(595-597)tgC>tgT p.C199C COAD 14 103352553 103352553 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr14:103352553G>A c.598G>A c.(598-600)Gtg>Atg p.V200M COAD 14 103355907 103355907 + Missense_Mutation SNP A A G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr14:103355907A>G c.662A>G c.(661-663)cAc>cGc p.H221R COAD 14 103363625 103363626 + Frame_Shift_Ins INS - - A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr14:103363625_103363626insA c.847_848insA c.(847-849)gaafs p.E283fs COAD 14 103363626 103363626 + Frame_Shift_Del DEL A A - TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr14:103363626delA c.848delA c.(847-849)gaafs p.E283fs COAD 14 103371797 103371797 + Silent SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr14:103371797C>T c.1383C>T c.(1381-1383)aaC>aaT p.N461N COAD 14 103371803 103371803 + Silent SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr14:103371803C>T c.1389C>T c.(1387-1389)gaC>gaT p.D463D COAD 14 103371834 103371834 + Frame_Shift_Del DEL T T - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr14:103371834delT c.1420delT c.(1420-1422)tttfs p.F475fs COAD 14 103371931 103371931 + Missense_Mutation SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr14:103371931G>A c.1517G>A c.(1516-1518)cGt>cAt p.R506H COADREAD 14 103336612 103336612 + Missense_Mutation SNP G G T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr14:103336612G>T c.74G>T c.(73-75)cGc>cTc p.R25L COADREAD 14 103336737 103336737 + Missense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr14:103336737G>A c.199G>A c.(199-201)Gag>Aag p.E67K COADREAD 14 103341988 103341988 + Nonsense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr14:103341988G>T c.325G>T c.(325-327)Gaa>Taa p.E109* COADREAD 14 103342695 103342695 + Splice_Site SNP G G A TCGA-AG-A02X-01A-01W-A00E-09 TCGA-AG-A02X-10A-01W-A00E-09 g.chr14:103342695G>A c.403G>A c.(403-405)Gtg>Atg p.V135M COADREAD 14 103342740 103342740 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr14:103342740C>T c.448C>T c.(448-450)Cgt>Tgt p.R150C COADREAD 14 103342783 103342783 + Missense_Mutation SNP A A T TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr14:103342783A>T c.491A>T c.(490-492)gAc>gTc p.D164V COADREAD 14 103352552 103352552 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr14:103352552C>T c.597C>T c.(595-597)tgC>tgT p.C199C COADREAD 14 103352553 103352553 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr14:103352553G>A c.598G>A c.(598-600)Gtg>Atg p.V200M COADREAD 14 103355907 103355907 + Missense_Mutation SNP A A G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr14:103355907A>G c.662A>G c.(661-663)cAc>cGc p.H221R COADREAD 14 103363625 103363626 + Frame_Shift_Ins INS - - A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr14:103363625_103363626insA c.847_848insA c.(847-849)gaafs p.E283fs COADREAD 14 103363626 103363626 + Frame_Shift_Del DEL A A - TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr14:103363626delA c.848delA c.(847-849)gaafs p.E283fs COADREAD 14 103371797 103371797 + Silent SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr14:103371797C>T c.1383C>T c.(1381-1383)aaC>aaT p.N461N COADREAD 14 103371803 103371803 + Silent SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr14:103371803C>T c.1389C>T c.(1387-1389)gaC>gaT p.D463D COADREAD 14 103371834 103371834 + Frame_Shift_Del DEL T T - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr14:103371834delT c.1420delT c.(1420-1422)tttfs p.F475fs COADREAD 14 103371896 103371896 + Silent SNP G G T TCGA-AG-3726-01A-02W-0899-10 TCGA-AG-3726-10A-01W-0901-10 g.chr14:103371896G>T c.1482G>T c.(1480-1482)gtG>gtT p.V494V COADREAD 14 103371931 103371931 + Missense_Mutation SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr14:103371931G>A c.1517G>A c.(1516-1518)cGt>cAt p.R506H DLBC 14 103336727 103336727 + Silent SNP G G A TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr14:103336727G>A c.189G>A c.(187-189)ccG>ccA p.P63P ESCA 14 103371584 103371584 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 g.chr14:103371584G>C c.1170G>C c.(1168-1170)caG>caC p.Q390H GBMLGG 14 103336624 103336624 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:103336624C>T c.86C>T c.(85-87)aCg>aTg p.T29M GBMLGG 14 103371628 103371628 + Missense_Mutation SNP G G A TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 g.chr14:103371628G>A c.1214G>A c.(1213-1215)cGc>cAc p.R405H HNSC 14 103336783 103336783 + Splice_Site SNP G G T TCGA-CN-A6V3-01A-12D-A34J-08 TCGA-CN-A6V3-10A-01D-A34M-08 g.chr14:103336783G>T c.245G>T c.(244-246)aGc>aTc p.S82I HNSC 14 103352585 103352585 + Frame_Shift_Del DEL C C - TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 g.chr14:103352585delC c.630delC c.(628-630)gtcfs p.V210fs HNSC 14 103357700 103357700 + Silent SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 g.chr14:103357700C>T c.765C>T c.(763-765)tcC>tcT p.S255S HNSC 14 103363706 103363706 + Nonsense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 g.chr14:103363706C>T c.928C>T c.(928-930)Cga>Tga p.R310* HNSC 14 103363738 103363738 + Splice_Site SNP G G A TCGA-CV-6939-01A-11D-1912-08 TCGA-CV-6939-10A-01D-1912-08 g.chr14:103363738G>A c.960G>A c.(958-960)caG>caA p.Q320Q HNSC 14 103369698 103369698 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr14:103369698C>T c.1067C>T c.(1066-1068)tCc>tTc p.S356F HNSC 14 103369699 103369699 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr14:103369699C>T c.1068C>T c.(1066-1068)tcC>tcT p.S356S HNSC 14 103369742 103369742 + Missense_Mutation SNP G G T TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr14:103369742G>T c.1111G>T c.(1111-1113)Gcg>Tcg p.A371S HNSC 14 103372013 103372013 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr14:103372013C>T c.1599C>T c.(1597-1599)ggC>ggT p.G533G KIPAN 14 103357741 103357741 + Missense_Mutation SNP C C G TCGA-CJ-4876-01A-01D-1373-10 TCGA-CJ-4876-11A-01D-1373-10 g.chr14:103357741C>G c.806C>G c.(805-807)tCg>tGg p.S269W KIRC 14 103357741 103357741 + Missense_Mutation SNP C C G TCGA-CJ-4876-01A-01D-1373-10 TCGA-CJ-4876-11A-01D-1373-10 g.chr14:103357741C>G c.806C>G c.(805-807)tCg>tGg p.S269W LGG 14 103336624 103336624 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:103336624C>T c.86C>T c.(85-87)aCg>aTg p.T29M LGG 14 103371628 103371628 + Missense_Mutation SNP G G A TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 g.chr14:103371628G>A c.1214G>A c.(1213-1215)cGc>cAc p.R405H LIHC 14 103371803 103371803 + Silent SNP C C T TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr14:103371803C>T c.1389C>T c.(1387-1389)gaC>gaT p.D463D LIHC 14 103371834 103371834 + Frame_Shift_Del DEL T T - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr14:103371834delT c.1420delT c.(1420-1422)tttfs p.F475fs LUAD 14 103369718 103369718 + Missense_Mutation SNP G G A TCGA-17-Z028-01A-01W-0746-08 TCGA-17-Z028-11A-01W-0746-08 g.chr14:103369718G>A c.1087G>A c.(1087-1089)Gag>Aag p.E363K LUAD 14 103369758 103369758 + Missense_Mutation SNP G G A TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr14:103369758G>A c.1127G>A c.(1126-1128)cGg>cAg p.R376Q LUAD 14 103371649 103371649 + Missense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr14:103371649C>T c.1235C>T c.(1234-1236)gCc>gTc p.A412V LUAD 14 103371735 103371735 + Missense_Mutation SNP T T G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 g.chr14:103371735T>G c.1321T>G c.(1321-1323)Tac>Gac p.Y441D LUSC 14 103336547 103336547 + Silent SNP G G T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr14:103336547G>T c.9G>T c.(7-9)tcG>tcT p.S3S LUSC 14 103371655 103371655 + Missense_Mutation SNP A A G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 g.chr14:103371655A>G c.1241A>G c.(1240-1242)tAc>tGc p.Y414C LUSC 14 103371855 103371855 + Nonsense_Mutation SNP G G T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 g.chr14:103371855G>T c.1441G>T c.(1441-1443)Gaa>Taa p.E481* LUSC 14 103372057 103372063 + Frame_Shift_Del DEL ATATTAA ATATTAA - TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 g.chr14:103372057_103372063delATATTAA c.1643_1649delATATTAA c.(1642-1650)tatattaaafs p.YIK548fs OV 14 103336579 103336579 + Missense_Mutation SNP A A C TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 g.chr14:103336579A>C c.41A>C c.(40-42)cAg>cCg p.Q14P PAAD 14 103372120 103372120 + Silent SNP G G A TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chr14:103372120G>A c.1706G>A c.(1705-1707)tGa>tAa p.*569* READ 14 103341988 103341988 + Nonsense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr14:103341988G>T c.325G>T c.(325-327)Gaa>Taa p.E109* READ 14 103342695 103342695 + Splice_Site SNP G G A TCGA-AG-A02X-01A-01W-A00E-09 TCGA-AG-A02X-10A-01W-A00E-09 g.chr14:103342695G>A c.403G>A c.(403-405)Gtg>Atg p.V135M READ 14 103371896 103371896 + Silent SNP G G T TCGA-AG-3726-01A-02W-0899-10 TCGA-AG-3726-10A-01W-0901-10 g.chr14:103371896G>T c.1482G>T c.(1480-1482)gtG>gtT p.V494V SARC 14 103369714 103369714 + Silent SNP G G A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 g.chr14:103369714G>A c.1083G>A c.(1081-1083)gtG>gtA p.V361V SKCM 14 103336546 103336546 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr14:103336546C>T c.8C>T c.(7-9)tCg>tTg p.S3L SKCM 14 103336638 103336638 + Missense_Mutation SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr14:103336638C>T c.100C>T c.(100-102)Cct>Tct p.P34S SKCM 14 103341984 103341984 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr14:103341984G>A c.321G>A c.(319-321)aaG>aaA p.K107K SKCM 14 103363602 103363602 + Missense_Mutation SNP C C T TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr14:103363602C>T c.824C>T c.(823-825)tCc>tTc p.S275F SKCM 14 103363719 103363719 + Missense_Mutation SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr14:103363719C>T c.941C>T c.(940-942)tCc>tTc p.S314F SKCM 14 103369643 103369643 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 g.chr14:103369643C>T c.1012C>T c.(1012-1014)Cgg>Tgg p.R338W SKCM 14 103371731 103371731 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:103371731C>T c.1317C>T c.(1315-1317)tcC>tcT p.S439S SKCM 14 103371842 103371842 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr14:103371842C>T c.1428C>T c.(1426-1428)gtC>gtT p.V476V

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 14 103336754 103336754 single base substitution C T synonymous_variant F72F 216C>T BLCA-CN 14 103336754 103336754 single base substitution C T upstream_gene_variant BLCA-US 14 103369714 103369714 single base substitution G A synonymous_variant V189V 567G>A BLCA-US 14 103369714 103369714 single base substitution G A synonymous_variant V278V 834G>A BLCA-US 14 103369714 103369714 single base substitution G A synonymous_variant V336V 1008G>A BLCA-US 14 103369714 103369714 single base substitution G A synonymous_variant V361V 1083G>A BRCA-EU 14 103239206 103239206 single base substitution C G upstream_gene_variant BRCA-EU 14 103241300 103241300 single base substitution C T upstream_gene_variant BRCA-EU 14 103241445 103241445 single base substitution C T upstream_gene_variant BRCA-EU 14 103241928 103241928 single base substitution C T upstream_gene_variant BRCA-EU 14 103242929 103242929 single base substitution C T upstream_gene_variant BRCA-EU 14 103243417 103243417 single base substitution C T upstream_gene_variant BRCA-EU 14 103243933 103243933 single base substitution C A 5_prime_UTR_variant BRCA-EU 14 103243933 103243933 single base substitution C A upstream_gene_variant BRCA-EU 14 103246592 103246592 single base substitution C T intron_variant BRCA-EU 14 103247029 103247029 single base substitution A T intron_variant BRCA-EU 14 103247339 103247339 single base substitution G T intron_variant BRCA-EU 14 103247446 103247446 single base substitution C T intron_variant BRCA-EU 14 103248249 103248251 deletion of <=200bp CCT - intron_variant BRCA-EU 14 103249504 103249504 single base substitution C T intron_variant BRCA-EU 14 103251583 103251583 single base substitution C G intron_variant BRCA-EU 14 103252791 103252791 single base substitution G A intron_variant BRCA-EU 14 103254968 103254968 single base substitution C G intron_variant BRCA-EU 14 103257221 103257221 single base substitution A T intron_variant BRCA-EU 14 103258683 103258683 single base substitution C G intron_variant BRCA-EU 14 103258949 103258949 single base substitution C G intron_variant BRCA-EU 14 103259043 103259043 single base substitution C T intron_variant BRCA-EU 14 103259055 103259055 single base substitution C T intron_variant BRCA-EU 14 103259664 103259664 insertion of <=200bp - T intron_variant BRCA-EU 14 103261158 103261158 single base substitution C T intron_variant BRCA-EU 14 103261189 103261189 single base substitution C T intron_variant BRCA-EU 14 103261450 103261450 single base substitution C T intron_variant BRCA-EU 14 103262688 103262688 single base substitution C T intron_variant BRCA-EU 14 103263316 103263316 single base substitution C G intron_variant BRCA-EU 14 103263561 103263561 single base substitution C T intron_variant BRCA-EU 14 103263686 103263686 single base substitution C G intron_variant BRCA-EU 14 103263908 103263908 single base substitution C A intron_variant BRCA-EU 14 103264039 103264039 single base substitution T C intron_variant BRCA-EU 14 103264141 103264141 single base substitution C G intron_variant BRCA-EU 14 103264482 103264482 single base substitution C T intron_variant BRCA-EU 14 103264844 103264844 single base substitution G C intron_variant BRCA-EU 14 103265053 103265053 single base substitution C T intron_variant BRCA-EU 14 103265303 103265303 single base substitution C T intron_variant BRCA-EU 14 103265322 103265322 single base substitution C T intron_variant BRCA-EU 14 103266430 103266479 deletion of <=200bp TGGGCTATTAGAAATGACCACAAAAACTGAGGCCCCCACCCATACAATTT - intron_variant BRCA-EU 14 103268042 103268042 insertion of <=200bp - A intron_variant BRCA-EU 14 103269821 103269821 single base substitution G A intron_variant BRCA-EU 14 103270534 103270534 single base substitution A C intron_variant BRCA-EU 14 103271010 103271010 single base substitution G A intron_variant BRCA-EU 14 103272583 103272583 single base substitution C T intron_variant BRCA-EU 14 103277249 103277249 single base substitution C T intron_variant BRCA-EU 14 103278175 103278175 single base substitution C G intron_variant BRCA-EU 14 103278251 103278273 deletion of <=200bp TTTTTTTTTTTTTTTTTTTTTTT - intron_variant BRCA-EU 14 103280319 103280319 single base substitution T C intron_variant BRCA-EU 14 103283820 103283820 single base substitution A G intron_variant BRCA-EU 14 103283950 103283950 single base substitution A G intron_variant BRCA-EU 14 103284071 103284071 single base substitution C G intron_variant BRCA-EU 14 103284402 103284402 single base substitution T C intron_variant BRCA-EU 14 103284731 103284731 single base substitution C T intron_variant BRCA-EU 14 103284788 103284788 single base substitution C G intron_variant BRCA-EU 14 103285117 103285121 deletion of <=200bp TGTAT - intron_variant BRCA-EU 14 103285152 103285152 single base substitution C T intron_variant BRCA-EU 14 103285334 103285334 single base substitution G C intron_variant BRCA-EU 14 103285577 103285577 single base substitution G A intron_variant BRCA-EU 14 103286169 103286169 single base substitution G A intron_variant BRCA-EU 14 103286321 103286321 single base substitution A G intron_variant BRCA-EU 14 103287325 103287325 deletion of <=200bp T - intron_variant BRCA-EU 14 103289974 103289974 single base substitution C T intron_variant BRCA-EU 14 103290090 103290090 single base substitution C T intron_variant BRCA-EU 14 103292157 103292157 single base substitution G A intron_variant BRCA-EU 14 103292157 103292157 single base substitution G A upstream_gene_variant BRCA-EU 14 103292706 103292706 single base substitution G A intron_variant BRCA-EU 14 103292706 103292706 single base substitution G A upstream_gene_variant BRCA-EU 14 103294378 103294378 single base substitution A G intron_variant BRCA-EU 14 103294378 103294378 single base substitution A G upstream_gene_variant BRCA-EU 14 103294387 103294387 single base substitution C T intron_variant BRCA-EU 14 103294387 103294387 single base substitution C T upstream_gene_variant BRCA-EU 14 103295716 103295716 single base substitution G A intron_variant BRCA-EU 14 103295716 103295716 single base substitution G A upstream_gene_variant BRCA-EU 14 103297137 103297137 single base substitution G A intron_variant BRCA-EU 14 103298087 103298087 deletion of <=200bp T - intron_variant BRCA-EU 14 103299158 103299158 deletion of <=200bp T - intron_variant BRCA-EU 14 103299831 103299831 single base substitution C T intron_variant BRCA-EU 14 103302567 103302567 single base substitution G T intron_variant BRCA-EU 14 103302570 103302570 single base substitution T A intron_variant BRCA-EU 14 103305113 103305113 single base substitution G T intron_variant BRCA-EU 14 103305957 103305957 single base substitution C A intron_variant BRCA-EU 14 103306599 103306605 deletion of <=200bp GCCCAGG - intron_variant BRCA-EU 14 103306742 103306742 insertion of <=200bp - T intron_variant BRCA-EU 14 103307757 103307757 single base substitution C G intron_variant BRCA-EU 14 103308253 103308253 single base substitution A G intron_variant BRCA-EU 14 103308525 103308525 single base substitution G A intron_variant BRCA-EU 14 103310978 103310978 single base substitution G A intron_variant BRCA-EU 14 103311856 103311856 single base substitution T A intron_variant BRCA-EU 14 103312039 103312039 single base substitution G C intron_variant BRCA-EU 14 103312449 103312449 single base substitution G A intron_variant BRCA-EU 14 103313276 103313276 single base substitution G T intron_variant BRCA-EU 14 103313703 103313703 single base substitution C G intron_variant BRCA-EU 14 103315341 103315341 single base substitution G C intron_variant BRCA-EU 14 103316800 103316800 single base substitution G A intron_variant BRCA-EU 14 103317531 103317531 single base substitution T C intron_variant BRCA-EU 14 103319047 103319047 deletion of <=200bp T - intron_variant BRCA-EU 14 103319181 103319181 single base substitution G A intron_variant BRCA-EU 14 103319329 103319329 single base substitution C T intron_variant BRCA-EU 14 103320136 103320136 single base substitution C G intron_variant BRCA-EU 14 103320458 103320458 deletion of <=200bp T - intron_variant BRCA-EU 14 103327159 103327159 single base substitution G A intron_variant BRCA-EU 14 103329440 103329440 single base substitution C G intron_variant BRCA-EU 14 103329752 103329752 single base substitution T G intron_variant BRCA-EU 14 103329767 103329767 single base substitution C T intron_variant BRCA-EU 14 103331758 103331758 single base substitution T G intron_variant BRCA-EU 14 103331768 103331768 single base substitution G C intron_variant BRCA-EU 14 103332792 103332792 single base substitution C A intron_variant BRCA-EU 14 103335390 103335390 single base substitution T C intron_variant BRCA-EU 14 103335390 103335390 single base substitution T C upstream_gene_variant BRCA-EU 14 103336253 103336253 single base substitution C G intron_variant BRCA-EU 14 103336253 103336253 single base substitution C G upstream_gene_variant BRCA-EU 14 103337419 103337419 single base substitution C G intron_variant BRCA-EU 14 103337419 103337419 single base substitution C G upstream_gene_variant BRCA-EU 14 103338563 103338563 single base substitution A G downstream_gene_variant BRCA-EU 14 103338563 103338563 single base substitution A G intron_variant BRCA-EU 14 103338563 103338563 single base substitution A G upstream_gene_variant BRCA-EU 14 103338662 103338662 single base substitution C T downstream_gene_variant BRCA-EU 14 103338662 103338662 single base substitution C T intron_variant BRCA-EU 14 103338662 103338662 single base substitution C T upstream_gene_variant BRCA-EU 14 103339329 103339329 single base substitution A T downstream_gene_variant BRCA-EU 14 103339329 103339329 single base substitution A T intron_variant BRCA-EU 14 103339329 103339329 single base substitution A T upstream_gene_variant BRCA-EU 14 103342052 103342052 single base substitution T C downstream_gene_variant BRCA-EU 14 103342052 103342052 single base substitution T C exon_variant BRCA-EU 14 103342052 103342052 single base substitution T C missense_variant L10P 29T>C BRCA-EU 14 103342052 103342052 single base substitution T C missense_variant L130P 389T>C BRCA-EU 14 103342053 103342053 single base substitution G T downstream_gene_variant BRCA-EU 14 103342053 103342053 single base substitution G T exon_variant BRCA-EU 14 103342053 103342053 single base substitution G T synonymous_variant L10L 30G>T BRCA-EU 14 103342053 103342053 single base substitution G T synonymous_variant L130L 390G>T BRCA-EU 14 103342247 103342247 single base substitution T A downstream_gene_variant BRCA-EU 14 103342247 103342247 single base substitution T A intron_variant BRCA-EU 14 103342609 103342609 single base substitution G A downstream_gene_variant BRCA-EU 14 103342609 103342609 single base substitution G A intron_variant BRCA-EU 14 103343350 103343350 single base substitution G T downstream_gene_variant BRCA-EU 14 103343350 103343350 single base substitution G T intron_variant BRCA-EU 14 103343445 103343445 single base substitution A G downstream_gene_variant BRCA-EU 14 103343445 103343445 single base substitution A G intron_variant BRCA-EU 14 103343828 103343828 single base substitution A G downstream_gene_variant BRCA-EU 14 103343828 103343828 single base substitution A G intron_variant BRCA-EU 14 103347412 103347412 single base substitution G A downstream_gene_variant BRCA-EU 14 103347412 103347412 single base substitution G A intron_variant BRCA-EU 14 103349886 103349886 single base substitution T G intron_variant BRCA-EU 14 103350838 103350838 single base substitution A T intron_variant BRCA-EU 14 103352388 103352388 single base substitution A G intron_variant BRCA-EU 14 103352990 103352990 single base substitution G A intron_variant BRCA-EU 14 103354625 103354625 single base substitution G T intron_variant BRCA-EU 14 103356668 103356668 single base substitution G C intron_variant BRCA-EU 14 103356791 103356791 insertion of <=200bp - TG intron_variant BRCA-EU 14 103357220 103357220 single base substitution G A intron_variant BRCA-EU 14 103357571 103357571 single base substitution T G intron_variant BRCA-EU 14 103358371 103358371 single base substitution C T intron_variant BRCA-EU 14 103358703 103358703 single base substitution G T intron_variant BRCA-EU 14 103359088 103359088 single base substitution A T intron_variant BRCA-EU 14 103359181 103359181 single base substitution C T intron_variant BRCA-EU 14 103360074 103360074 single base substitution A G intron_variant BRCA-EU 14 103361501 103361501 single base substitution G A 3_prime_UTR_variant BRCA-EU 14 103361501 103361501 single base substitution G A intron_variant BRCA-EU 14 103363417 103363417 single base substitution G A intron_variant BRCA-EU 14 103363818 103363818 single base substitution C G downstream_gene_variant BRCA-EU 14 103363818 103363818 single base substitution C G intron_variant BRCA-EU 14 103366012 103366012 single base substitution C G downstream_gene_variant BRCA-EU 14 103366012 103366012 single base substitution C G intron_variant BRCA-EU 14 103367765 103367765 single base substitution C T downstream_gene_variant BRCA-EU 14 103367765 103367765 single base substitution C T intron_variant BRCA-EU 14 103369160 103369160 single base substitution C G intron_variant BRCA-EU 14 103369179 103369179 single base substitution C T intron_variant BRCA-EU 14 103370333 103370333 single base substitution G C intron_variant BRCA-EU 14 103370870 103370870 single base substitution G A intron_variant BRCA-EU 14 103370930 103370930 single base substitution G A intron_variant BRCA-EU 14 103371398 103371398 single base substitution G C intron_variant BRCA-EU 14 103371507 103371507 single base substitution C T intron_variant BRCA-EU 14 103371614 103371614 single base substitution C T synonymous_variant A228A 684C>T BRCA-EU 14 103371614 103371614 single base substitution C T synonymous_variant A317A 951C>T BRCA-EU 14 103371614 103371614 single base substitution C T synonymous_variant A375A 1125C>T BRCA-EU 14 103371614 103371614 single base substitution C T synonymous_variant A400A 1200C>T BRCA-EU 14 103372863 103372863 single base substitution G C 3_prime_UTR_variant BRCA-EU 14 103372863 103372863 single base substitution G C downstream_gene_variant BRCA-EU 14 103373182 103373182 single base substitution C G 3_prime_UTR_variant BRCA-EU 14 103373182 103373182 single base substitution C G downstream_gene_variant BRCA-EU 14 103377201 103377201 single base substitution G T 3_prime_UTR_variant BRCA-EU 14 103377201 103377201 single base substitution G T downstream_gene_variant BRCA-EU 14 103378567 103378567 single base substitution G T downstream_gene_variant BRCA-EU 14 103379048 103379048 single base substitution C G downstream_gene_variant BRCA-EU 14 103379146 103379146 single base substitution G A downstream_gene_variant BRCA-EU 14 103379239 103379239 single base substitution G C downstream_gene_variant BRCA-EU 14 103379875 103379875 single base substitution G A downstream_gene_variant BRCA-EU 14 103382465 103382465 single base substitution C T downstream_gene_variant BRCA-FR 14 103242929 103242929 single base substitution C T upstream_gene_variant BRCA-FR 14 103263316 103263316 single base substitution C G intron_variant BRCA-FR 14 103264039 103264039 single base substitution T C intron_variant BRCA-FR 14 103272583 103272583 single base substitution C T intron_variant BRCA-FR 14 103278175 103278175 single base substitution C G intron_variant BRCA-FR 14 103283950 103283950 single base substitution A G intron_variant BRCA-FR 14 103284731 103284731 single base substitution C T intron_variant BRCA-FR 14 103289974 103289974 single base substitution C T intron_variant BRCA-FR 14 103290090 103290090 single base substitution C T intron_variant BRCA-FR 14 103294378 103294378 single base substitution A G intron_variant BRCA-FR 14 103294378 103294378 single base substitution A G upstream_gene_variant BRCA-FR 14 103303912 103303912 single base substitution A T intron_variant BRCA-FR 14 103313703 103313703 single base substitution C G intron_variant BRCA-FR 14 103319181 103319181 single base substitution G A intron_variant BRCA-FR 14 103325988 103325988 single base substitution G A intron_variant BRCA-FR 14 103329767 103329767 single base substitution C T intron_variant BRCA-FR 14 103347412 103347412 single base substitution G A downstream_gene_variant BRCA-FR 14 103347412 103347412 single base substitution G A intron_variant BRCA-FR 14 103352990 103352990 single base substitution G A intron_variant BRCA-FR 14 103363818 103363818 single base substitution C G downstream_gene_variant BRCA-FR 14 103363818 103363818 single base substitution C G intron_variant BRCA-FR 14 103366012 103366012 single base substitution C G downstream_gene_variant BRCA-FR 14 103366012 103366012 single base substitution C G intron_variant BRCA-FR 14 103372942 103372942 single base substitution C T 3_prime_UTR_variant BRCA-FR 14 103372942 103372942 single base substitution C T downstream_gene_variant BRCA-KR 14 103338386 103338386 single base substitution C G downstream_gene_variant BRCA-KR 14 103338386 103338386 single base substitution C G intron_variant BRCA-KR 14 103338386 103338386 single base substitution C G upstream_gene_variant BRCA-UK 14 103253677 103253677 single base substitution C T intron_variant BRCA-UK 14 103258683 103258683 single base substitution C G intron_variant BRCA-UK 14 103258949 103258949 single base substitution C G intron_variant BRCA-UK 14 103259043 103259043 single base substitution C T intron_variant BRCA-UK 14 103259055 103259055 single base substitution C T intron_variant BRCA-UK 14 103261158 103261158 single base substitution C T intron_variant BRCA-UK 14 103261189 103261189 single base substitution C T intron_variant BRCA-UK 14 103261450 103261450 single base substitution C T intron_variant BRCA-UK 14 103262320 103262320 single base substitution G A intron_variant BRCA-UK 14 103263561 103263561 single base substitution C T intron_variant BRCA-UK 14 103263686 103263686 single base substitution C G intron_variant BRCA-UK 14 103263908 103263908 single base substitution C A intron_variant BRCA-UK 14 103264141 103264141 single base substitution C G intron_variant BRCA-UK 14 103264482 103264482 single base substitution C T intron_variant BRCA-UK 14 103265053 103265053 single base substitution C T intron_variant BRCA-UK 14 103274473 103274473 single base substitution G C intron_variant BRCA-UK 14 103285334 103285334 single base substitution G C intron_variant BRCA-UK 14 103342052 103342052 single base substitution T C downstream_gene_variant BRCA-UK 14 103342052 103342052 single base substitution T C exon_variant BRCA-UK 14 103342052 103342052 single base substitution T C missense_variant L10P 29T>C BRCA-UK 14 103342052 103342052 single base substitution T C missense_variant L130P 389T>C BRCA-UK 14 103342053 103342053 single base substitution G T downstream_gene_variant BRCA-UK 14 103342053 103342053 single base substitution G T exon_variant BRCA-UK 14 103342053 103342053 single base substitution G T synonymous_variant L10L 30G>T BRCA-UK 14 103342053 103342053 single base substitution G T synonymous_variant L130L 390G>T BRCA-UK 14 103342929 103342929 single base substitution G A downstream_gene_variant BRCA-UK 14 103342929 103342929 single base substitution G A exon_variant BRCA-UK 14 103342929 103342929 single base substitution G A intron_variant BRCA-UK 14 103363159 103363159 single base substitution G C intron_variant BRCA-UK 14 103378878 103378878 single base substitution G A downstream_gene_variant BRCA-UK 14 103379375 103379375 single base substitution G C downstream_gene_variant BRCA-UK 14 103381343 103381343 single base substitution C G downstream_gene_variant BRCA-US 14 103336784 103336784 single base substitution G T splice_donor_variant BRCA-US 14 103336784 103336784 single base substitution G T upstream_gene_variant BRCA-US 14 103352554 103352554 single base substitution T C exon_variant BRCA-US 14 103352554 103352554 single base substitution T C intron_variant BRCA-US 14 103352554 103352554 single base substitution T C missense_variant V200A 599T>C BRCA-US 14 103363658 103363658 single base substitution C T downstream_gene_variant BRCA-US 14 103363658 103363658 single base substitution C T stop_gained Q122* 364C>T BRCA-US 14 103363658 103363658 single base substitution C T stop_gained Q211* 631C>T BRCA-US 14 103363658 103363658 single base substitution C T stop_gained Q269* 805C>T BRCA-US 14 103363658 103363658 single base substitution C T stop_gained Q294* 880C>T BRCA-US 14 103369680 103369680 insertion of <=200bp - A frameshift_variant M178N? BRCA-US 14 103369680 103369680 insertion of <=200bp - A frameshift_variant M267N? BRCA-US 14 103369680 103369680 insertion of <=200bp - A frameshift_variant M325N? BRCA-US 14 103369680 103369680 insertion of <=200bp - A frameshift_variant M350N? BTCA-JP 14 103336623 103336623 single base substitution A C missense_variant T29P 85A>C BTCA-JP 14 103336623 103336623 single base substitution A C upstream_gene_variant BTCA-JP 14 103338317 103338317 deletion of <=200bp T - downstream_gene_variant BTCA-JP 14 103338317 103338317 deletion of <=200bp T - intron_variant BTCA-JP 14 103338317 103338317 deletion of <=200bp T - upstream_gene_variant BTCA-JP 14 103355952 103355952 single base substitution G A exon_variant BTCA-JP 14 103355952 103355952 single base substitution G A intron_variant BTCA-JP 14 103355952 103355952 single base substitution G A missense_variant R236H 707G>A BTCA-JP 14 103357665 103357665 single base substitution A G exon_variant BTCA-JP 14 103357665 103357665 single base substitution A G intron_variant BTCA-JP 14 103357665 103357665 single base substitution A G missense_variant T219A 655A>G BTCA-JP 14 103357665 103357665 single base substitution A G missense_variant T244A 730A>G BTCA-JP 14 103357665 103357665 single base substitution A G missense_variant T72A 214A>G BTCA-JP 14 103369643 103369643 single base substitution C T missense_variant R166W 496C>T BTCA-JP 14 103369643 103369643 single base substitution C T missense_variant R255W 763C>T BTCA-JP 14 103369643 103369643 single base substitution C T missense_variant R313W 937C>T BTCA-JP 14 103369643 103369643 single base substitution C T missense_variant R338W 1012C>T CESC-US 14 103336564 103336564 single base substitution C T missense_variant S9F 26C>T CESC-US 14 103336564 103336564 single base substitution C T upstream_gene_variant CESC-US 14 103369593 103369593 single base substitution G A missense_variant R149Q 446G>A CESC-US 14 103369593 103369593 single base substitution G A missense_variant R238Q 713G>A CESC-US 14 103369593 103369593 single base substitution G A missense_variant R296Q 887G>A CESC-US 14 103369593 103369593 single base substitution G A missense_variant R321Q 962G>A CLLE-ES 14 103239287 103239287 single base substitution G T upstream_gene_variant CLLE-ES 14 103265425 103265425 single base substitution T A intron_variant CLLE-ES 14 103312413 103312413 single base substitution G A intron_variant CLLE-ES 14 103313148 103313148 single base substitution G T intron_variant CLLE-ES 14 103313279 103313279 single base substitution A G intron_variant CLLE-ES 14 103347181 103347181 single base substitution G A downstream_gene_variant CLLE-ES 14 103347181 103347181 single base substitution G A intron_variant CLLE-ES 14 103361614 103361614 single base substitution A G intron_variant CLLE-ES 14 103371673 103371673 single base substitution G A stop_gained W248* 743G>A CLLE-ES 14 103371673 103371673 single base substitution G A stop_gained W337* 1010G>A CLLE-ES 14 103371673 103371673 single base substitution G A stop_gained W395* 1184G>A CLLE-ES 14 103371673 103371673 single base substitution G A stop_gained W420* 1259G>A COAD-US 14 103336737 103336737 single base substitution G A missense_variant E67K 199G>A COAD-US 14 103336737 103336737 single base substitution G A upstream_gene_variant COAD-US 14 103342740 103342740 single base substitution C T downstream_gene_variant COAD-US 14 103342740 103342740 single base substitution C T exon_variant COAD-US 14 103342740 103342740 single base substitution C T missense_variant R150C 448C>T COAD-US 14 103342740 103342740 single base substitution C T missense_variant R30C 88C>T COAD-US 14 103342783 103342783 single base substitution A T downstream_gene_variant COAD-US 14 103342783 103342783 single base substitution A T exon_variant COAD-US 14 103342783 103342783 single base substitution A T missense_variant D164V 491A>T COAD-US 14 103342783 103342783 single base substitution A T missense_variant D44V 131A>T COAD-US 14 103371834 103371834 deletion of <=200bp T - downstream_gene_variant COAD-US 14 103371834 103371834 deletion of <=200bp T - frameshift_variant F391 COAD-US 14 103371834 103371834 deletion of <=200bp T - frameshift_variant F449 COAD-US 14 103371834 103371834 deletion of <=200bp T - frameshift_variant F474 COAD-US 14 103371931 103371931 single base substitution G A downstream_gene_variant COAD-US 14 103371931 103371931 single base substitution G A missense_variant R423H 1268G>A COAD-US 14 103371931 103371931 single base substitution G A missense_variant R481H 1442G>A COAD-US 14 103371931 103371931 single base substitution G A missense_variant R506H 1517G>A COAD-US 14 103372103 103372103 single base substitution G A downstream_gene_variant COAD-US 14 103372103 103372103 single base substitution G A synonymous_variant S480S 1440G>A COAD-US 14 103372103 103372103 single base substitution G A synonymous_variant S538S 1614G>A COAD-US 14 103372103 103372103 single base substitution G A synonymous_variant S563S 1689G>A COCA-CN 14 103356022 103356022 single base substitution G T intron_variant COCA-CN 14 103357754 103357754 single base substitution G T intron_variant COCA-CN 14 103357754 103357754 single base substitution G T missense_variant K101N 303G>T COCA-CN 14 103357754 103357754 single base substitution G T missense_variant K248N 744G>T COCA-CN 14 103357754 103357754 single base substitution G T missense_variant K273N 819G>T COCA-CN 14 103357754 103357754 single base substitution G T splice_region_variant COCA-CN 14 103357841 103357841 single base substitution G T intron_variant COCA-CN 14 103371764 103371764 single base substitution T G missense_variant F278L 834T>G COCA-CN 14 103371764 103371764 single base substitution T G missense_variant F367L 1101T>G COCA-CN 14 103371764 103371764 single base substitution T G missense_variant F425L 1275T>G COCA-CN 14 103371764 103371764 single base substitution T G missense_variant F450L 1350T>G EOPC-DE 14 103321838 103321838 single base substitution T A intron_variant EOPC-DE 14 103338568 103338568 single base substitution G A downstream_gene_variant EOPC-DE 14 103338568 103338568 single base substitution G A intron_variant EOPC-DE 14 103338568 103338568 single base substitution G A upstream_gene_variant EOPC-DE 14 103343269 103343269 single base substitution T C downstream_gene_variant EOPC-DE 14 103343269 103343269 single base substitution T C intron_variant ESAD-UK 14 103239695 103239695 single base substitution C T upstream_gene_variant ESAD-UK 14 103241594 103241594 single base substitution T C upstream_gene_variant ESAD-UK 14 103243162 103243162 single base substitution C T upstream_gene_variant ESAD-UK 14 103255608 103255608 insertion of <=200bp - GGGC intron_variant ESAD-UK 14 103256354 103256354 deletion of <=200bp G - intron_variant ESAD-UK 14 103256651 103256651 single base substitution T G intron_variant ESAD-UK 14 103257647 103257647 single base substitution C T intron_variant ESAD-UK 14 103262692 103262702 deletion of <=200bp TGTGTCTTCTG - intron_variant ESAD-UK 14 103262705 103262711 deletion of <=200bp GTATCCT - intron_variant ESAD-UK 14 103264986 103264986 single base substitution A T intron_variant ESAD-UK 14 103267798 103267798 single base substitution G A intron_variant ESAD-UK 14 103268132 103268132 single base substitution G C intron_variant ESAD-UK 14 103272512 103272512 single base substitution C G intron_variant ESAD-UK 14 103281233 103281233 single base substitution T G intron_variant ESAD-UK 14 103286508 103286508 insertion of <=200bp - G intron_variant ESAD-UK 14 103289022 103289022 single base substitution G A intron_variant ESAD-UK 14 103293330 103293330 single base substitution C T intron_variant ESAD-UK 14 103293330 103293330 single base substitution C T upstream_gene_variant ESAD-UK 14 103295098 103295098 single base substitution C T intron_variant ESAD-UK 14 103295098 103295098 single base substitution C T upstream_gene_variant ESAD-UK 14 103296980 103296980 single base substitution C A intron_variant ESAD-UK 14 103298293 103298293 single base substitution C T intron_variant ESAD-UK 14 103298808 103298808 single base substitution C T intron_variant ESAD-UK 14 103299221 103299221 single base substitution C G intron_variant ESAD-UK 14 103299584 103299584 single base substitution C T intron_variant ESAD-UK 14 103304252 103304252 single base substitution A T intron_variant ESAD-UK 14 103304569 103304569 single base substitution T C intron_variant ESAD-UK 14 103308289 103308289 single base substitution A G intron_variant ESAD-UK 14 103310028 103310028 single base substitution G A intron_variant ESAD-UK 14 103312315 103312315 deletion of <=200bp C - intron_variant ESAD-UK 14 103315802 103315802 single base substitution T A intron_variant ESAD-UK 14 103317139 103317139 single base substitution A G intron_variant ESAD-UK 14 103318968 103318968 single base substitution G T intron_variant ESAD-UK 14 103319242 103319242 insertion of <=200bp - T intron_variant ESAD-UK 14 103323222 103323222 single base substitution A G intron_variant ESAD-UK 14 103323665 103323665 single base substitution A T intron_variant ESAD-UK 14 103328137 103328137 single base substitution G C intron_variant ESAD-UK 14 103329646 103329646 single base substitution C A intron_variant ESAD-UK 14 103330782 103330782 single base substitution G A intron_variant ESAD-UK 14 103331138 103331138 single base substitution T G intron_variant ESAD-UK 14 103331647 103331647 single base substitution C T intron_variant ESAD-UK 14 103332437 103332437 insertion of <=200bp - A intron_variant ESAD-UK 14 103332757 103332757 single base substitution A T intron_variant ESAD-UK 14 103333993 103333993 single base substitution C G intron_variant ESAD-UK 14 103333993 103333993 single base substitution C G upstream_gene_variant ESAD-UK 14 103336299 103336299 single base substitution T C intron_variant ESAD-UK 14 103336299 103336299 single base substitution T C upstream_gene_variant ESAD-UK 14 103337464 103337464 single base substitution G A intron_variant ESAD-UK 14 103337464 103337464 single base substitution G A upstream_gene_variant ESAD-UK 14 103338486 103338486 single base substitution C T downstream_gene_variant ESAD-UK 14 103338486 103338486 single base substitution C T intron_variant ESAD-UK 14 103338486 103338486 single base substitution C T upstream_gene_variant ESAD-UK 14 103344691 103344691 single base substitution G T downstream_gene_variant ESAD-UK 14 103344691 103344691 single base substitution G T intron_variant ESAD-UK 14 103348502 103348502 single base substitution T G intron_variant ESAD-UK 14 103350359 103350359 single base substitution T C intron_variant ESAD-UK 14 103350826 103350826 single base substitution T C intron_variant ESAD-UK 14 103352763 103352763 deletion of <=200bp T - intron_variant ESAD-UK 14 103352922 103352922 single base substitution G A intron_variant ESAD-UK 14 103353095 103353095 single base substitution A G intron_variant ESAD-UK 14 103358118 103358118 single base substitution T C intron_variant ESAD-UK 14 103362587 103362587 single base substitution G A intron_variant ESAD-UK 14 103363568 103363568 single base substitution G T intron_variant ESAD-UK 14 103365922 103365922 single base substitution G A downstream_gene_variant ESAD-UK 14 103365922 103365922 single base substitution G A intron_variant ESAD-UK 14 103366664 103366664 single base substitution C T downstream_gene_variant ESAD-UK 14 103366664 103366664 single base substitution C T intron_variant ESAD-UK 14 103367632 103367632 single base substitution C T downstream_gene_variant ESAD-UK 14 103367632 103367632 single base substitution C T intron_variant ESAD-UK 14 103374124 103374124 single base substitution G A 3_prime_UTR_variant ESAD-UK 14 103374124 103374124 single base substitution G A downstream_gene_variant ESAD-UK 14 103375527 103375527 single base substitution G A 3_prime_UTR_variant ESAD-UK 14 103375527 103375527 single base substitution G A downstream_gene_variant ESAD-UK 14 103376613 103376613 single base substitution T A 3_prime_UTR_variant ESAD-UK 14 103376613 103376613 single base substitution T A downstream_gene_variant ESAD-UK 14 103379677 103379677 insertion of <=200bp - C downstream_gene_variant ESAD-UK 14 103380271 103380271 single base substitution C A downstream_gene_variant ESAD-UK 14 103380743 103380743 single base substitution G A downstream_gene_variant ESCA-CN 14 103336698 103336698 single base substitution G C missense_variant E54Q 160G>C ESCA-CN 14 103336698 103336698 single base substitution G C upstream_gene_variant ESCA-CN 14 103338324 103338324 single base substitution T A downstream_gene_variant ESCA-CN 14 103338324 103338324 single base substitution T A intron_variant ESCA-CN 14 103338324 103338324 single base substitution T A upstream_gene_variant ESCA-CN 14 103370119 103370119 single base substitution C T intron_variant ESCA-CN 14 103370163 103370163 single base substitution C T intron_variant KIRC-US 14 103357741 103357741 single base substitution C G exon_variant KIRC-US 14 103357741 103357741 single base substitution C G intron_variant KIRC-US 14 103357741 103357741 single base substitution C G missense_variant S244W 731C>G KIRC-US 14 103357741 103357741 single base substitution C G missense_variant S269W 806C>G KIRC-US 14 103357741 103357741 single base substitution C G missense_variant S97W 290C>G LAML-KR 14 103311318 103311318 single base substitution C T intron_variant LAML-KR 14 103338324 103338324 single base substitution T A downstream_gene_variant LAML-KR 14 103338324 103338324 single base substitution T A intron_variant LAML-KR 14 103338324 103338324 single base substitution T A upstream_gene_variant LAML-KR 14 103342049 103342049 single base substitution T C downstream_gene_variant LAML-KR 14 103342049 103342049 single base substitution T C exon_variant LAML-KR 14 103342049 103342049 single base substitution T C missense_variant M129T 386T>C LAML-KR 14 103342049 103342049 single base substitution T C missense_variant M9T 26T>C LAML-KR 14 103343269 103343269 single base substitution T C downstream_gene_variant LAML-KR 14 103343269 103343269 single base substitution T C intron_variant LAML-KR 14 103343279 103343279 single base substitution T G downstream_gene_variant LAML-KR 14 103343279 103343279 single base substitution T G intron_variant LAML-KR 14 103343295 103343295 single base substitution A G downstream_gene_variant LAML-KR 14 103343295 103343295 single base substitution A G intron_variant LAML-KR 14 103343505 103343505 single base substitution T G downstream_gene_variant LAML-KR 14 103343505 103343505 single base substitution T G intron_variant LAML-KR 14 103343828 103343828 single base substitution A T downstream_gene_variant LAML-KR 14 103343828 103343828 single base substitution A T intron_variant LAML-KR 14 103343983 103343983 single base substitution G A downstream_gene_variant LAML-KR 14 103343983 103343983 single base substitution G A intron_variant LAML-KR 14 103344111 103344111 single base substitution G A downstream_gene_variant LAML-KR 14 103344111 103344111 single base substitution G A intron_variant LAML-KR 14 103344126 103344126 single base substitution A G downstream_gene_variant LAML-KR 14 103344126 103344126 single base substitution A G intron_variant LAML-KR 14 103357603 103357603 single base substitution G T intron_variant LICA-CN 14 103336657 103336657 single base substitution A T missense_variant K40M 119A>T LICA-CN 14 103336657 103336657 single base substitution A T upstream_gene_variant LICA-CN 14 103336782 103336782 single base substitution A T missense_variant S82C 244A>T LICA-CN 14 103336782 103336782 single base substitution A T upstream_gene_variant LICA-FR 14 103247513 103247513 deletion of <=200bp G - intron_variant LICA-FR 14 103258770 103258771 deletion of <=200bp TT - intron_variant LICA-FR 14 103295787 103295787 single base substitution G C intron_variant LICA-FR 14 103295787 103295787 single base substitution G C upstream_gene_variant LICA-FR 14 103296145 103296145 single base substitution G A intron_variant LICA-FR 14 103296145 103296145 single base substitution G A upstream_gene_variant LICA-FR 14 103303481 103303481 insertion of <=200bp - G intron_variant LICA-FR 14 103345610 103345610 single base substitution A C downstream_gene_variant LICA-FR 14 103345610 103345610 single base substitution A C intron_variant LICA-FR 14 103371846 103371858 deletion of <=200bp ATGCGTGGAGAAT - downstream_gene_variant LICA-FR 14 103371846 103371858 deletion of <=200bp ATGCGTGGAGAAT - frameshift_variant MRGEY395 LICA-FR 14 103371846 103371858 deletion of <=200bp ATGCGTGGAGAAT - frameshift_variant MRGEY453 LICA-FR 14 103371846 103371858 deletion of <=200bp ATGCGTGGAGAAT - frameshift_variant MRGEY478 LICA-FR 14 103379196 103379196 deletion of <=200bp T - downstream_gene_variant LINC-JP 14 103239478 103239478 single base substitution A T upstream_gene_variant LINC-JP 14 103243485 103243485 single base substitution G C upstream_gene_variant LINC-JP 14 103244946 103244946 single base substitution A G intron_variant LINC-JP 14 103256621 103256621 single base substitution A G intron_variant LINC-JP 14 103258161 103258161 single base substitution T G intron_variant LINC-JP 14 103258786 103258786 single base substitution T C intron_variant LINC-JP 14 103282456 103282456 single base substitution A T intron_variant LINC-JP 14 103291678 103291678 single base substitution A T intron_variant LINC-JP 14 103298087 103298087 deletion of <=200bp T - intron_variant LINC-JP 14 103305576 103305576 single base substitution G T intron_variant LINC-JP 14 103339694 103339694 single base substitution C T downstream_gene_variant LINC-JP 14 103339694 103339694 single base substitution C T intron_variant LINC-JP 14 103339694 103339694 single base substitution C T upstream_gene_variant LINC-JP 14 103345644 103345644 single base substitution T A downstream_gene_variant LINC-JP 14 103345644 103345644 single base substitution T A intron_variant LINC-JP 14 103346120 103346120 single base substitution A G downstream_gene_variant LINC-JP 14 103346120 103346120 single base substitution A G intron_variant LINC-JP 14 103357603 103357603 single base substitution G A intron_variant LINC-JP 14 103362179 103362179 single base substitution A G intron_variant LINC-JP 14 103363640 103363640 single base substitution A T 3_prime_UTR_variant LINC-JP 14 103363640 103363640 single base substitution A T missense_variant I116L 346A>T LINC-JP 14 103363640 103363640 single base substitution A T missense_variant I205L 613A>T LINC-JP 14 103363640 103363640 single base substitution A T missense_variant I263L 787A>T LINC-JP 14 103363640 103363640 single base substitution A T missense_variant I288L 862A>T LINC-JP 14 103363663 103363663 single base substitution A T downstream_gene_variant LINC-JP 14 103363663 103363663 single base substitution A T synonymous_variant I123I 369A>T LINC-JP 14 103363663 103363663 single base substitution A T synonymous_variant I212I 636A>T LINC-JP 14 103363663 103363663 single base substitution A T synonymous_variant I270I 810A>T LINC-JP 14 103363663 103363663 single base substitution A T synonymous_variant I295I 885A>T LINC-JP 14 103369441 103369441 insertion of <=200bp - C intron_variant LIRI-JP 14 103246218 103246218 deletion of <=200bp C - intron_variant LIRI-JP 14 103248866 103248866 single base substitution T A intron_variant LIRI-JP 14 103249987 103249987 single base substitution G A intron_variant LIRI-JP 14 103251551 103251551 single base substitution C A intron_variant LIRI-JP 14 103253246 103253246 single base substitution G A intron_variant LIRI-JP 14 103257173 103257173 single base substitution A G intron_variant LIRI-JP 14 103262116 103262116 single base substitution C T intron_variant LIRI-JP 14 103267692 103267692 single base substitution A G intron_variant LIRI-JP 14 103273198 103273198 single base substitution G A intron_variant LIRI-JP 14 103273237 103273237 single base substitution C T intron_variant LIRI-JP 14 103274442 103274442 single base substitution A G intron_variant LIRI-JP 14 103275795 103275795 single base substitution T A intron_variant LIRI-JP 14 103276147 103276147 single base substitution A G intron_variant LIRI-JP 14 103277032 103277032 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 14 103277032 103277032 single base substitution A G intron_variant LIRI-JP 14 103277332 103277332 single base substitution A G intron_variant LIRI-JP 14 103280539 103280539 single base substitution T C intron_variant LIRI-JP 14 103282329 103282329 single base substitution T C intron_variant LIRI-JP 14 103283031 103283031 single base substitution A G intron_variant LIRI-JP 14 103285177 103285177 single base substitution G A intron_variant LIRI-JP 14 103287412 103287412 single base substitution A G intron_variant LIRI-JP 14 103290618 103290618 single base substitution C T intron_variant LIRI-JP 14 103291360 103291360 single base substitution T C intron_variant LIRI-JP 14 103296607 103296607 deletion of <=200bp G - intron_variant LIRI-JP 14 103296607 103296607 deletion of <=200bp G - upstream_gene_variant LIRI-JP 14 103296832 103296832 single base substitution T A intron_variant LIRI-JP 14 103299027 103299027 single base substitution T G intron_variant LIRI-JP 14 103302433 103302433 single base substitution G A intron_variant LIRI-JP 14 103305860 103305860 single base substitution A G intron_variant LIRI-JP 14 103307855 103307855 single base substitution G A intron_variant LIRI-JP 14 103309166 103309166 single base substitution G A intron_variant LIRI-JP 14 103315144 103315144 single base substitution C T intron_variant LIRI-JP 14 103316469 103316469 single base substitution A G intron_variant LIRI-JP 14 103319426 103319426 single base substitution A G intron_variant LIRI-JP 14 103320396 103320396 single base substitution A T intron_variant LIRI-JP 14 103320726 103320726 single base substitution A G intron_variant LIRI-JP 14 103321198 103321198 single base substitution A G intron_variant LIRI-JP 14 103321538 103321538 single base substitution G T intron_variant LIRI-JP 14 103322206 103322206 single base substitution A G intron_variant LIRI-JP 14 103323516 103323516 single base substitution A G intron_variant LIRI-JP 14 103329713 103329713 single base substitution A G intron_variant LIRI-JP 14 103329766 103329766 single base substitution T G intron_variant LIRI-JP 14 103329796 103329796 single base substitution G A intron_variant LIRI-JP 14 103330737 103330737 single base substitution G A intron_variant LIRI-JP 14 103331025 103331025 single base substitution A G intron_variant LIRI-JP 14 103331477 103331477 single base substitution A G intron_variant LIRI-JP 14 103333432 103333432 single base substitution G A intron_variant LIRI-JP 14 103333432 103333432 single base substitution G A upstream_gene_variant LIRI-JP 14 103335462 103335462 single base substitution C T intron_variant LIRI-JP 14 103335462 103335462 single base substitution C T upstream_gene_variant LIRI-JP 14 103336219 103336219 single base substitution C T intron_variant LIRI-JP 14 103336219 103336219 single base substitution C T upstream_gene_variant LIRI-JP 14 103336522 103336522 single base substitution A T splice_region_variant LIRI-JP 14 103336522 103336522 single base substitution A T upstream_gene_variant LIRI-JP 14 103337671 103337671 single base substitution A G intron_variant LIRI-JP 14 103337671 103337671 single base substitution A G upstream_gene_variant LIRI-JP 14 103337982 103337983 deletion of <=200bp TT - intron_variant LIRI-JP 14 103337982 103337983 deletion of <=200bp TT - upstream_gene_variant LIRI-JP 14 103340044 103340044 single base substitution C T downstream_gene_variant LIRI-JP 14 103340044 103340044 single base substitution C T intron_variant LIRI-JP 14 103340044 103340044 single base substitution C T upstream_gene_variant LIRI-JP 14 103340048 103340048 single base substitution T C downstream_gene_variant LIRI-JP 14 103340048 103340048 single base substitution T C intron_variant LIRI-JP 14 103340048 103340048 single base substitution T C upstream_gene_variant LIRI-JP 14 103340619 103340619 single base substitution A G downstream_gene_variant LIRI-JP 14 103340619 103340619 single base substitution A G intron_variant LIRI-JP 14 103340619 103340619 single base substitution A G upstream_gene_variant LIRI-JP 14 103341011 103341011 single base substitution G T downstream_gene_variant LIRI-JP 14 103341011 103341011 single base substitution G T intron_variant LIRI-JP 14 103341011 103341011 single base substitution G T upstream_gene_variant LIRI-JP 14 103346058 103346058 single base substitution A G downstream_gene_variant LIRI-JP 14 103346058 103346058 single base substitution A G intron_variant LIRI-JP 14 103346201 103346201 single base substitution C T downstream_gene_variant LIRI-JP 14 103346201 103346201 single base substitution C T intron_variant LIRI-JP 14 103346324 103346324 single base substitution A G downstream_gene_variant LIRI-JP 14 103346324 103346324 single base substitution A G intron_variant LIRI-JP 14 103346966 103346966 single base substitution A G downstream_gene_variant LIRI-JP 14 103346966 103346966 single base substitution A G intron_variant LIRI-JP 14 103348193 103348193 single base substitution A G intron_variant LIRI-JP 14 103348288 103348288 single base substitution G A intron_variant LIRI-JP 14 103353566 103353566 single base substitution T A intron_variant LIRI-JP 14 103354093 103354093 single base substitution G A intron_variant LIRI-JP 14 103355971 103355971 single base substitution G T intron_variant LIRI-JP 14 103355971 103355971 single base substitution G T missense_variant Q242H 726G>T LIRI-JP 14 103355971 103355971 single base substitution G T splice_region_variant LIRI-JP 14 103356275 103356275 single base substitution A G intron_variant LIRI-JP 14 103356308 103356308 single base substitution A G intron_variant LIRI-JP 14 103356448 103356448 single base substitution G A intron_variant LIRI-JP 14 103360513 103360513 single base substitution A T intron_variant LIRI-JP 14 103364559 103364559 single base substitution T C downstream_gene_variant LIRI-JP 14 103364559 103364559 single base substitution T C intron_variant LIRI-JP 14 103367693 103367693 single base substitution C G downstream_gene_variant LIRI-JP 14 103367693 103367693 single base substitution C G intron_variant LIRI-JP 14 103372902 103372902 single base substitution C T 3_prime_UTR_variant LIRI-JP 14 103372902 103372902 single base substitution C T downstream_gene_variant LIRI-JP 14 103376769 103376769 single base substitution T G 3_prime_UTR_variant LIRI-JP 14 103376769 103376769 single base substitution T G downstream_gene_variant LIRI-JP 14 103377849 103377849 single base substitution C T downstream_gene_variant LIRI-JP 14 103381044 103381044 deletion of <=200bp A - downstream_gene_variant LIRI-JP 14 103381337 103381337 deletion of <=200bp C - downstream_gene_variant LUSC-KR 14 103254674 103254674 single base substitution C T intron_variant LUSC-KR 14 103255555 103255555 single base substitution C T intron_variant LUSC-KR 14 103264952 103264952 single base substitution G T intron_variant LUSC-KR 14 103264953 103264953 single base substitution G T intron_variant LUSC-KR 14 103273599 103273599 single base substitution C T intron_variant LUSC-KR 14 103276504 103276504 single base substitution C G intron_variant LUSC-KR 14 103276970 103276970 single base substitution C G intron_variant LUSC-KR 14 103279818 103279818 single base substitution C A intron_variant LUSC-KR 14 103280464 103280464 single base substitution C T intron_variant LUSC-KR 14 103280852 103280852 single base substitution C T intron_variant LUSC-KR 14 103281274 103281274 single base substitution C G intron_variant LUSC-KR 14 103281371 103281371 single base substitution C T intron_variant LUSC-KR 14 103281659 103281659 single base substitution C A intron_variant LUSC-KR 14 103282474 103282474 single base substitution C G intron_variant LUSC-KR 14 103282518 103282518 single base substitution C T intron_variant LUSC-KR 14 103302299 103302299 single base substitution T C intron_variant LUSC-KR 14 103303285 103303285 single base substitution C A intron_variant LUSC-KR 14 103305318 103305318 single base substitution T C intron_variant LUSC-KR 14 103305415 103305415 single base substitution G A intron_variant LUSC-KR 14 103306712 103306712 single base substitution C T intron_variant LUSC-KR 14 103309727 103309727 single base substitution G A intron_variant LUSC-KR 14 103309753 103309753 single base substitution C T intron_variant LUSC-KR 14 103309889 103309889 single base substitution G T intron_variant LUSC-KR 14 103312621 103312621 single base substitution G C intron_variant LUSC-KR 14 103312654 103312654 single base substitution G A intron_variant LUSC-KR 14 103313051 103313051 single base substitution G T intron_variant LUSC-KR 14 103313086 103313086 single base substitution G A intron_variant LUSC-KR 14 103321255 103321255 single base substitution A G intron_variant LUSC-KR 14 103343568 103343568 single base substitution C T downstream_gene_variant LUSC-KR 14 103343568 103343568 single base substitution C T intron_variant LUSC-KR 14 103343790 103343790 single base substitution T C downstream_gene_variant LUSC-KR 14 103343790 103343790 single base substitution T C intron_variant LUSC-KR 14 103343889 103343889 single base substitution A C downstream_gene_variant LUSC-KR 14 103343889 103343889 single base substitution A C intron_variant LUSC-KR 14 103344921 103344921 single base substitution T C downstream_gene_variant LUSC-KR 14 103344921 103344921 single base substitution T C intron_variant LUSC-KR 14 103345246 103345246 single base substitution G T downstream_gene_variant LUSC-KR 14 103345246 103345246 single base substitution G T intron_variant LUSC-KR 14 103351522 103351522 single base substitution C G intron_variant LUSC-KR 14 103360049 103360049 single base substitution G A intron_variant LUSC-KR 14 103368489 103368489 single base substitution A G downstream_gene_variant LUSC-KR 14 103368489 103368489 single base substitution A G intron_variant LUSC-KR 14 103369375 103369375 single base substitution C A intron_variant LUSC-KR 14 103370949 103370949 single base substitution C T intron_variant LUSC-KR 14 103376461 103376461 single base substitution G A 3_prime_UTR_variant LUSC-KR 14 103376461 103376461 single base substitution G A downstream_gene_variant LUSC-US 14 103336547 103336547 single base substitution G T synonymous_variant S3S 9G>T LUSC-US 14 103336547 103336547 single base substitution G T upstream_gene_variant LUSC-US 14 103371655 103371655 single base substitution A G missense_variant Y242C 725A>G LUSC-US 14 103371655 103371655 single base substitution A G missense_variant Y331C 992A>G LUSC-US 14 103371655 103371655 single base substitution A G missense_variant Y389C 1166A>G LUSC-US 14 103371655 103371655 single base substitution A G missense_variant Y414C 1241A>G LUSC-US 14 103371855 103371855 single base substitution G T downstream_gene_variant LUSC-US 14 103371855 103371855 single base substitution G T stop_gained E398* 1192G>T LUSC-US 14 103371855 103371855 single base substitution G T stop_gained E456* 1366G>T LUSC-US 14 103371855 103371855 single base substitution G T stop_gained E481* 1441G>T LUSC-US 14 103372057 103372063 deletion of <=200bp ATATTAA - downstream_gene_variant LUSC-US 14 103372057 103372063 deletion of <=200bp ATATTAA - frameshift_variant YIK465 LUSC-US 14 103372057 103372063 deletion of <=200bp ATATTAA - frameshift_variant YIK523 LUSC-US 14 103372057 103372063 deletion of <=200bp ATATTAA - frameshift_variant YIK548 MALY-DE 14 103239990 103239990 single base substitution C T upstream_gene_variant MALY-DE 14 103244620 103244620 single base substitution G A intron_variant MALY-DE 14 103245730 103245730 single base substitution C T intron_variant MALY-DE 14 103245813 103245813 single base substitution C T intron_variant MALY-DE 14 103256059 103256059 single base substitution T C intron_variant MALY-DE 14 103258419 103258419 single base substitution G A intron_variant MALY-DE 14 103262566 103262566 single base substitution A C intron_variant MALY-DE 14 103262567 103262567 single base substitution A T intron_variant MALY-DE 14 103293562 103293562 single base substitution C T intron_variant MALY-DE 14 103293562 103293562 single base substitution C T upstream_gene_variant MALY-DE 14 103316976 103316976 single base substitution A C intron_variant MALY-DE 14 103341316 103341316 single base substitution A G downstream_gene_variant MALY-DE 14 103341316 103341316 single base substitution A G intron_variant MALY-DE 14 103341316 103341316 single base substitution A G upstream_gene_variant MALY-DE 14 103344312 103344312 single base substitution G A downstream_gene_variant MALY-DE 14 103344312 103344312 single base substitution G A intron_variant MALY-DE 14 103355576 103355576 single base substitution A G intron_variant MALY-DE 14 103357244 103357244 single base substitution T C intron_variant MALY-DE 14 103362264 103362264 single base substitution G A intron_variant MALY-DE 14 103371998 103371998 single base substitution G A downstream_gene_variant MALY-DE 14 103371998 103371998 single base substitution G A missense_variant M445I 1335G>A MALY-DE 14 103371998 103371998 single base substitution G A missense_variant M503I 1509G>A MALY-DE 14 103371998 103371998 single base substitution G A missense_variant M528I 1584G>A MALY-DE 14 103374232 103374232 single base substitution T A 3_prime_UTR_variant MALY-DE 14 103374232 103374232 single base substitution T A downstream_gene_variant MALY-DE 14 103380660 103380660 single base substitution T C downstream_gene_variant MALY-DE 14 103381764 103381764 single base substitution G A downstream_gene_variant MELA-AU 14 103239082 103239082 single base substitution C T upstream_gene_variant MELA-AU 14 103239406 103239406 single base substitution C T upstream_gene_variant MELA-AU 14 103239418 103239418 single base substitution C T upstream_gene_variant MELA-AU 14 103240372 103240372 single base substitution C T upstream_gene_variant MELA-AU 14 103240516 103240516 single base substitution C T upstream_gene_variant MELA-AU 14 103241084 103241084 single base substitution A G upstream_gene_variant MELA-AU 14 103242260 103242260 single base substitution C T upstream_gene_variant MELA-AU 14 103242802 103242802 single base substitution C G upstream_gene_variant MELA-AU 14 103243036 103243036 single base substitution C T upstream_gene_variant MELA-AU 14 103243120 103243120 single base substitution G A upstream_gene_variant MELA-AU 14 103245481 103245481 single base substitution G A intron_variant MELA-AU 14 103246576 103246576 single base substitution G A intron_variant MELA-AU 14 103247292 103247292 single base substitution C T intron_variant MELA-AU 14 103247329 103247329 single base substitution C T intron_variant MELA-AU 14 103247504 103247504 single base substitution C T intron_variant MELA-AU 14 103248099 103248099 single base substitution G A intron_variant MELA-AU 14 103248239 103248239 single base substitution C T intron_variant MELA-AU 14 103249365 103249366 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 103249986 103249986 single base substitution C T intron_variant MELA-AU 14 103250331 103250331 single base substitution T C intron_variant MELA-AU 14 103250853 103250853 single base substitution C T intron_variant MELA-AU 14 103251360 103251360 single base substitution G A intron_variant MELA-AU 14 103252789 103252789 single base substitution C T intron_variant MELA-AU 14 103252993 103252993 single base substitution C T intron_variant MELA-AU 14 103253394 103253394 single base substitution C T intron_variant MELA-AU 14 103256983 103256983 single base substitution G A intron_variant MELA-AU 14 103257163 103257163 single base substitution C T intron_variant MELA-AU 14 103257271 103257272 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 103257447 103257447 single base substitution C T intron_variant MELA-AU 14 103257583 103257583 single base substitution C T intron_variant MELA-AU 14 103257802 103257802 single base substitution A T intron_variant MELA-AU 14 103258850 103258851 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 103258998 103258998 single base substitution C T intron_variant MELA-AU 14 103259405 103259405 single base substitution C T intron_variant MELA-AU 14 103259711 103259711 single base substitution C T intron_variant MELA-AU 14 103259864 103259864 single base substitution C T intron_variant MELA-AU 14 103260143 103260143 single base substitution T C intron_variant MELA-AU 14 103260778 103260778 single base substitution C T intron_variant MELA-AU 14 103261103 103261103 single base substitution T C intron_variant MELA-AU 14 103261302 103261302 single base substitution C T intron_variant MELA-AU 14 103261799 103261799 single base substitution C T intron_variant MELA-AU 14 103262813 103262813 single base substitution G A intron_variant MELA-AU 14 103263081 103263081 single base substitution C T intron_variant MELA-AU 14 103263474 103263474 single base substitution C T intron_variant MELA-AU 14 103263851 103263851 single base substitution C T intron_variant MELA-AU 14 103264974 103264974 single base substitution C T intron_variant MELA-AU 14 103266360 103266360 single base substitution G A intron_variant MELA-AU 14 103266628 103266628 single base substitution C T intron_variant MELA-AU 14 103269345 103269345 single base substitution C T intron_variant MELA-AU 14 103269346 103269346 single base substitution C T intron_variant MELA-AU 14 103270311 103270311 single base substitution G A intron_variant MELA-AU 14 103270360 103270360 single base substitution G A intron_variant MELA-AU 14 103271277 103271277 single base substitution T G intron_variant MELA-AU 14 103271519 103271519 single base substitution T A intron_variant MELA-AU 14 103271773 103271773 single base substitution G A intron_variant MELA-AU 14 103272761 103272761 single base substitution C T intron_variant MELA-AU 14 103273293 103273293 single base substitution A G intron_variant MELA-AU 14 103273357 103273357 single base substitution C T intron_variant MELA-AU 14 103273366 103273366 single base substitution C T intron_variant MELA-AU 14 103273526 103273526 single base substitution C A intron_variant MELA-AU 14 103273782 103273782 single base substitution C T intron_variant MELA-AU 14 103273940 103273940 single base substitution G A intron_variant MELA-AU 14 103274207 103274207 single base substitution T C intron_variant MELA-AU 14 103274588 103274588 single base substitution A T intron_variant MELA-AU 14 103274608 103274608 single base substitution G A intron_variant MELA-AU 14 103274980 103274980 single base substitution T C intron_variant MELA-AU 14 103275073 103275073 single base substitution C T intron_variant MELA-AU 14 103276257 103276257 single base substitution T A intron_variant MELA-AU 14 103276518 103276518 single base substitution C T intron_variant MELA-AU 14 103277613 103277613 single base substitution C T intron_variant MELA-AU 14 103278502 103278502 single base substitution C A intron_variant MELA-AU 14 103278737 103278737 single base substitution T C intron_variant MELA-AU 14 103279052 103279052 single base substitution C T intron_variant MELA-AU 14 103279754 103279754 single base substitution G A intron_variant MELA-AU 14 103279762 103279762 single base substitution C T intron_variant MELA-AU 14 103279967 103279967 single base substitution T A intron_variant MELA-AU 14 103280370 103280370 single base substitution C T intron_variant MELA-AU 14 103280598 103280598 single base substitution C T intron_variant MELA-AU 14 103280733 103280733 single base substitution G A intron_variant MELA-AU 14 103280863 103280863 single base substitution T A intron_variant MELA-AU 14 103280870 103280870 single base substitution C T intron_variant MELA-AU 14 103280873 103280873 single base substitution C T intron_variant MELA-AU 14 103281315 103281315 single base substitution C T intron_variant MELA-AU 14 103281376 103281376 single base substitution G A intron_variant MELA-AU 14 103282085 103282085 single base substitution C T intron_variant MELA-AU 14 103282600 103282600 single base substitution C T intron_variant MELA-AU 14 103282697 103282698 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 103283577 103283577 single base substitution G T intron_variant MELA-AU 14 103284476 103284476 single base substitution C T intron_variant MELA-AU 14 103285452 103285452 single base substitution C T intron_variant MELA-AU 14 103285742 103285742 single base substitution C T intron_variant MELA-AU 14 103285910 103285910 single base substitution C T intron_variant MELA-AU 14 103286392 103286392 single base substitution G T intron_variant MELA-AU 14 103286477 103286477 single base substitution C T intron_variant MELA-AU 14 103287436 103287436 single base substitution C T intron_variant MELA-AU 14 103289266 103289266 single base substitution C T intron_variant MELA-AU 14 103290039 103290039 single base substitution C T intron_variant MELA-AU 14 103290780 103290780 single base substitution C T intron_variant MELA-AU 14 103291433 103291433 single base substitution G A intron_variant MELA-AU 14 103291788 103291788 single base substitution C T intron_variant MELA-AU 14 103291788 103291788 single base substitution C T upstream_gene_variant MELA-AU 14 103291912 103291912 single base substitution C T intron_variant MELA-AU 14 103291912 103291912 single base substitution C T upstream_gene_variant MELA-AU 14 103291959 103291959 single base substitution C T intron_variant MELA-AU 14 103291959 103291959 single base substitution C T upstream_gene_variant MELA-AU 14 103291960 103291960 single base substitution C T intron_variant MELA-AU 14 103291960 103291960 single base substitution C T upstream_gene_variant MELA-AU 14 103292417 103292417 single base substitution C T intron_variant MELA-AU 14 103292417 103292417 single base substitution C T upstream_gene_variant MELA-AU 14 103292427 103292427 single base substitution C T intron_variant MELA-AU 14 103292427 103292427 single base substitution C T upstream_gene_variant MELA-AU 14 103293013 103293013 single base substitution C T intron_variant MELA-AU 14 103293013 103293013 single base substitution C T upstream_gene_variant MELA-AU 14 103293132 103293132 single base substitution C T intron_variant MELA-AU 14 103293132 103293132 single base substitution C T upstream_gene_variant MELA-AU 14 103293214 103293214 single base substitution C T intron_variant MELA-AU 14 103293214 103293214 single base substitution C T upstream_gene_variant MELA-AU 14 103293441 103293441 single base substitution C T intron_variant MELA-AU 14 103293441 103293441 single base substitution C T upstream_gene_variant MELA-AU 14 103293452 103293452 single base substitution C T intron_variant MELA-AU 14 103293452 103293452 single base substitution C T upstream_gene_variant MELA-AU 14 103293658 103293658 single base substitution T C intron_variant MELA-AU 14 103293658 103293658 single base substitution T C upstream_gene_variant MELA-AU 14 103293700 103293700 single base substitution C T intron_variant MELA-AU 14 103293700 103293700 single base substitution C T upstream_gene_variant MELA-AU 14 103295375 103295375 single base substitution C T intron_variant MELA-AU 14 103295375 103295375 single base substitution C T upstream_gene_variant MELA-AU 14 103295732 103295733 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 103295732 103295733 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 103296124 103296124 single base substitution G A intron_variant MELA-AU 14 103296124 103296124 single base substitution G A upstream_gene_variant MELA-AU 14 103297421 103297422 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 14 103298217 103298217 single base substitution C T intron_variant MELA-AU 14 103298918 103298918 single base substitution G A intron_variant MELA-AU 14 103302124 103302124 single base substitution A C intron_variant MELA-AU 14 103302389 103302389 single base substitution C T intron_variant MELA-AU 14 103303366 103303366 single base substitution C G intron_variant MELA-AU 14 103303422 103303422 single base substitution C T intron_variant MELA-AU 14 103303583 103303583 single base substitution C T intron_variant MELA-AU 14 103304685 103304685 single base substitution C T intron_variant MELA-AU 14 103305221 103305221 single base substitution C T intron_variant MELA-AU 14 103305410 103305410 single base substitution C T intron_variant MELA-AU 14 103305494 103305494 single base substitution C T intron_variant MELA-AU 14 103306371 103306371 single base substitution C T intron_variant MELA-AU 14 103307858 103307858 single base substitution G A intron_variant MELA-AU 14 103309010 103309010 single base substitution A T intron_variant MELA-AU 14 103309842 103309842 single base substitution T A intron_variant MELA-AU 14 103309865 103309865 single base substitution G A intron_variant MELA-AU 14 103310184 103310185 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 103311149 103311149 insertion of <=200bp - G intron_variant MELA-AU 14 103311870 103311870 single base substitution C T intron_variant MELA-AU 14 103313269 103313269 single base substitution C T intron_variant MELA-AU 14 103313511 103313511 single base substitution C T intron_variant MELA-AU 14 103313820 103313820 single base substitution C T intron_variant MELA-AU 14 103314198 103314198 single base substitution T C intron_variant MELA-AU 14 103314357 103314357 single base substitution C T intron_variant MELA-AU 14 103316179 103316179 single base substitution C T intron_variant MELA-AU 14 103316346 103316346 single base substitution C T intron_variant MELA-AU 14 103316518 103316518 single base substitution C T intron_variant MELA-AU 14 103316781 103316781 single base substitution C T intron_variant MELA-AU 14 103316792 103316793 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 103316813 103316813 single base substitution C T intron_variant MELA-AU 14 103316945 103316945 single base substitution C G intron_variant MELA-AU 14 103317158 103317159 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 103317728 103317728 single base substitution G A intron_variant MELA-AU 14 103318054 103318054 single base substitution C T intron_variant MELA-AU 14 103319348 103319348 single base substitution C T intron_variant MELA-AU 14 103319755 103319755 single base substitution C T intron_variant MELA-AU 14 103319832 103319832 single base substitution C T intron_variant MELA-AU 14 103320169 103320169 single base substitution C T intron_variant MELA-AU 14 103320423 103320423 single base substitution G A intron_variant MELA-AU 14 103321421 103321421 single base substitution C T intron_variant MELA-AU 14 103321447 103321447 single base substitution T A intron_variant MELA-AU 14 103321751 103321751 single base substitution C T intron_variant MELA-AU 14 103322102 103322102 single base substitution C T intron_variant MELA-AU 14 103322470 103322470 single base substitution C T intron_variant MELA-AU 14 103322705 103322705 single base substitution C T intron_variant MELA-AU 14 103323060 103323060 single base substitution C T intron_variant MELA-AU 14 103323786 103323786 single base substitution C T intron_variant MELA-AU 14 103323960 103323960 single base substitution C T intron_variant MELA-AU 14 103324145 103324145 single base substitution C T intron_variant MELA-AU 14 103324381 103324381 single base substitution G A intron_variant MELA-AU 14 103324842 103324842 single base substitution C T intron_variant MELA-AU 14 103325026 103325026 single base substitution A G intron_variant MELA-AU 14 103325330 103325330 single base substitution C T intron_variant MELA-AU 14 103325463 103325463 single base substitution C T intron_variant MELA-AU 14 103326729 103326729 single base substitution C T intron_variant MELA-AU 14 103326927 103326927 single base substitution C T intron_variant MELA-AU 14 103327083 103327083 single base substitution T A intron_variant MELA-AU 14 103327683 103327683 single base substitution G A intron_variant MELA-AU 14 103327767 103327767 single base substitution C T intron_variant MELA-AU 14 103327801 103327801 single base substitution C T intron_variant MELA-AU 14 103328320 103328320 single base substitution C T intron_variant MELA-AU 14 103328626 103328626 single base substitution C T intron_variant MELA-AU 14 103329550 103329550 single base substitution G C intron_variant MELA-AU 14 103329556 103329556 single base substitution T A intron_variant MELA-AU 14 103329595 103329595 single base substitution C T intron_variant MELA-AU 14 103329698 103329698 single base substitution C T intron_variant MELA-AU 14 103330085 103330085 single base substitution C T intron_variant MELA-AU 14 103330395 103330395 single base substitution C A intron_variant MELA-AU 14 103330398 103330398 single base substitution G A intron_variant MELA-AU 14 103330606 103330606 single base substitution C T intron_variant MELA-AU 14 103330841 103330841 single base substitution C T intron_variant MELA-AU 14 103331562 103331562 single base substitution T C intron_variant MELA-AU 14 103331673 103331673 single base substitution C T intron_variant MELA-AU 14 103331726 103331726 single base substitution G A intron_variant MELA-AU 14 103332289 103332289 single base substitution T C intron_variant MELA-AU 14 103333015 103333015 single base substitution C T intron_variant MELA-AU 14 103333169 103333169 single base substitution G A intron_variant MELA-AU 14 103333417 103333417 single base substitution C T intron_variant MELA-AU 14 103333417 103333417 single base substitution C T upstream_gene_variant MELA-AU 14 103333709 103333709 single base substitution G T intron_variant MELA-AU 14 103333709 103333709 single base substitution G T upstream_gene_variant MELA-AU 14 103334674 103334674 single base substitution C T intron_variant MELA-AU 14 103334674 103334674 single base substitution C T upstream_gene_variant MELA-AU 14 103334900 103334900 single base substitution C T intron_variant MELA-AU 14 103334900 103334900 single base substitution C T upstream_gene_variant MELA-AU 14 103335451 103335451 single base substitution C T intron_variant MELA-AU 14 103335451 103335451 single base substitution C T upstream_gene_variant MELA-AU 14 103336929 103336929 single base substitution C T intron_variant MELA-AU 14 103336929 103336929 single base substitution C T upstream_gene_variant MELA-AU 14 103337016 103337016 single base substitution C T intron_variant MELA-AU 14 103337016 103337016 single base substitution C T upstream_gene_variant MELA-AU 14 103337017 103337017 single base substitution C T intron_variant MELA-AU 14 103337017 103337017 single base substitution C T upstream_gene_variant MELA-AU 14 103337197 103337197 single base substitution C T intron_variant MELA-AU 14 103337197 103337197 single base substitution C T upstream_gene_variant MELA-AU 14 103337585 103337585 single base substitution C T intron_variant MELA-AU 14 103337585 103337585 single base substitution C T upstream_gene_variant MELA-AU 14 103337617 103337617 single base substitution C T intron_variant MELA-AU 14 103337617 103337617 single base substitution C T upstream_gene_variant MELA-AU 14 103338052 103338052 single base substitution G A intron_variant MELA-AU 14 103338052 103338052 single base substitution G A upstream_gene_variant MELA-AU 14 103338678 103338678 single base substitution C T downstream_gene_variant MELA-AU 14 103338678 103338678 single base substitution C T intron_variant MELA-AU 14 103338678 103338678 single base substitution C T upstream_gene_variant MELA-AU 14 103339120 103339120 single base substitution C T downstream_gene_variant MELA-AU 14 103339120 103339120 single base substitution C T intron_variant MELA-AU 14 103339120 103339120 single base substitution C T upstream_gene_variant MELA-AU 14 103339309 103339309 single base substitution A G downstream_gene_variant MELA-AU 14 103339309 103339309 single base substitution A G intron_variant MELA-AU 14 103339309 103339309 single base substitution A G upstream_gene_variant MELA-AU 14 103339373 103339373 single base substitution C T downstream_gene_variant MELA-AU 14 103339373 103339373 single base substitution C T intron_variant MELA-AU 14 103339373 103339373 single base substitution C T upstream_gene_variant MELA-AU 14 103339454 103339454 single base substitution C T downstream_gene_variant MELA-AU 14 103339454 103339454 single base substitution C T intron_variant MELA-AU 14 103339454 103339454 single base substitution C T upstream_gene_variant MELA-AU 14 103339813 103339813 single base substitution G C downstream_gene_variant MELA-AU 14 103339813 103339813 single base substitution G C intron_variant MELA-AU 14 103339813 103339813 single base substitution G C upstream_gene_variant MELA-AU 14 103339920 103339920 single base substitution C T downstream_gene_variant MELA-AU 14 103339920 103339920 single base substitution C T intron_variant MELA-AU 14 103339920 103339920 single base substitution C T upstream_gene_variant MELA-AU 14 103339995 103339995 single base substitution G A downstream_gene_variant MELA-AU 14 103339995 103339995 single base substitution G A intron_variant MELA-AU 14 103339995 103339995 single base substitution G A upstream_gene_variant MELA-AU 14 103340463 103340463 single base substitution T C downstream_gene_variant MELA-AU 14 103340463 103340463 single base substitution T C intron_variant MELA-AU 14 103340463 103340463 single base substitution T C upstream_gene_variant MELA-AU 14 103341628 103341628 single base substitution T G downstream_gene_variant MELA-AU 14 103341628 103341628 single base substitution T G intron_variant MELA-AU 14 103341628 103341628 single base substitution T G upstream_gene_variant MELA-AU 14 103341988 103341988 single base substitution G T downstream_gene_variant MELA-AU 14 103341988 103341988 single base substitution G T exon_variant MELA-AU 14 103341988 103341988 single base substitution G T stop_gained E109* 325G>T MELA-AU 14 103341988 103341988 single base substitution G T upstream_gene_variant MELA-AU 14 103342008 103342008 single base substitution C T downstream_gene_variant MELA-AU 14 103342008 103342008 single base substitution C T exon_variant MELA-AU 14 103342008 103342008 single base substitution C T synonymous_variant I115I 345C>T MELA-AU 14 103342008 103342008 single base substitution C T upstream_gene_variant MELA-AU 14 103342982 103342982 single base substitution C T downstream_gene_variant MELA-AU 14 103342982 103342982 single base substitution C T exon_variant MELA-AU 14 103342982 103342982 single base substitution C T intron_variant MELA-AU 14 103343126 103343126 single base substitution C T downstream_gene_variant MELA-AU 14 103343126 103343126 single base substitution C T intron_variant MELA-AU 14 103343223 103343223 single base substitution C T downstream_gene_variant MELA-AU 14 103343223 103343223 single base substitution C T intron_variant MELA-AU 14 103343356 103343356 single base substitution C T downstream_gene_variant MELA-AU 14 103343356 103343356 single base substitution C T intron_variant MELA-AU 14 103343555 103343555 single base substitution C T downstream_gene_variant MELA-AU 14 103343555 103343555 single base substitution C T intron_variant MELA-AU 14 103343841 103343841 single base substitution C T downstream_gene_variant MELA-AU 14 103343841 103343841 single base substitution C T intron_variant MELA-AU 14 103343913 103343913 single base substitution C T downstream_gene_variant MELA-AU 14 103343913 103343913 single base substitution C T intron_variant MELA-AU 14 103343986 103343986 single base substitution C T downstream_gene_variant MELA-AU 14 103343986 103343986 single base substitution C T intron_variant MELA-AU 14 103344243 103344243 single base substitution C T downstream_gene_variant MELA-AU 14 103344243 103344243 single base substitution C T intron_variant MELA-AU 14 103344771 103344771 single base substitution G A downstream_gene_variant MELA-AU 14 103344771 103344771 single base substitution G A intron_variant MELA-AU 14 103345164 103345164 single base substitution C T downstream_gene_variant MELA-AU 14 103345164 103345164 single base substitution C T intron_variant MELA-AU 14 103345683 103345683 single base substitution C T downstream_gene_variant MELA-AU 14 103345683 103345683 single base substitution C T intron_variant MELA-AU 14 103345769 103345769 single base substitution A G downstream_gene_variant MELA-AU 14 103345769 103345769 single base substitution A G intron_variant MELA-AU 14 103347312 103347312 single base substitution C T downstream_gene_variant MELA-AU 14 103347312 103347312 single base substitution C T intron_variant MELA-AU 14 103347715 103347715 single base substitution C G downstream_gene_variant MELA-AU 14 103347715 103347715 single base substitution C G intron_variant MELA-AU 14 103349915 103349915 single base substitution T C intron_variant MELA-AU 14 103349963 103349963 single base substitution C T intron_variant MELA-AU 14 103350102 103350102 single base substitution C T intron_variant MELA-AU 14 103350791 103350791 single base substitution T G intron_variant MELA-AU 14 103350926 103350926 single base substitution C T intron_variant MELA-AU 14 103351223 103351223 single base substitution C T intron_variant MELA-AU 14 103351295 103351295 single base substitution C T intron_variant MELA-AU 14 103351554 103351554 single base substitution C T intron_variant MELA-AU 14 103352629 103352630 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 103352833 103352833 single base substitution C T intron_variant MELA-AU 14 103352841 103352841 single base substitution C T intron_variant MELA-AU 14 103352921 103352921 single base substitution C T intron_variant MELA-AU 14 103353752 103353752 single base substitution C T intron_variant MELA-AU 14 103353763 103353763 single base substitution C T intron_variant MELA-AU 14 103354345 103354346 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 103354748 103354748 single base substitution C T intron_variant MELA-AU 14 103354764 103354764 single base substitution C T intron_variant MELA-AU 14 103354770 103354770 single base substitution C T intron_variant MELA-AU 14 103354798 103354798 single base substitution C T intron_variant MELA-AU 14 103355599 103355599 single base substitution C T intron_variant MELA-AU 14 103355732 103355732 single base substitution C T intron_variant MELA-AU 14 103356277 103356277 single base substitution A G intron_variant MELA-AU 14 103356415 103356415 single base substitution C T intron_variant MELA-AU 14 103356783 103356783 single base substitution C T intron_variant MELA-AU 14 103357281 103357281 single base substitution C T intron_variant MELA-AU 14 103357499 103357499 single base substitution C T intron_variant MELA-AU 14 103358677 103358677 single base substitution G A intron_variant MELA-AU 14 103359311 103359311 single base substitution C T intron_variant MELA-AU 14 103360430 103360455 deletion of <=200bp GAGGCGGGCAGATTGCCTGAGCTCGG - intron_variant MELA-AU 14 103360983 103360983 single base substitution T A intron_variant MELA-AU 14 103361158 103361158 single base substitution C T intron_variant MELA-AU 14 103361638 103361638 single base substitution G A intron_variant MELA-AU 14 103362020 103362020 single base substitution C T intron_variant MELA-AU 14 103362245 103362245 single base substitution C T intron_variant MELA-AU 14 103363719 103363719 single base substitution C T downstream_gene_variant MELA-AU 14 103363719 103363719 single base substitution C T missense_variant S142F 425C>T MELA-AU 14 103363719 103363719 single base substitution C T missense_variant S231F 692C>T MELA-AU 14 103363719 103363719 single base substitution C T missense_variant S289F 866C>T MELA-AU 14 103363719 103363719 single base substitution C T missense_variant S314F 941C>T MELA-AU 14 103364046 103364046 single base substitution T G downstream_gene_variant MELA-AU 14 103364046 103364046 single base substitution T G intron_variant MELA-AU 14 103364204 103364204 single base substitution C T downstream_gene_variant MELA-AU 14 103364204 103364204 single base substitution C T intron_variant MELA-AU 14 103364997 103364997 single base substitution C T downstream_gene_variant MELA-AU 14 103364997 103364997 single base substitution C T intron_variant MELA-AU 14 103365063 103365063 single base substitution C T downstream_gene_variant MELA-AU 14 103365063 103365063 single base substitution C T intron_variant MELA-AU 14 103365322 103365322 single base substitution C T downstream_gene_variant MELA-AU 14 103365322 103365322 single base substitution C T intron_variant MELA-AU 14 103365583 103365583 single base substitution C T downstream_gene_variant MELA-AU 14 103365583 103365583 single base substitution C T intron_variant MELA-AU 14 103365778 103365778 single base substitution C T downstream_gene_variant MELA-AU 14 103365778 103365778 single base substitution C T intron_variant MELA-AU 14 103365845 103365845 single base substitution C T downstream_gene_variant MELA-AU 14 103365845 103365845 single base substitution C T intron_variant MELA-AU 14 103366012 103366012 single base substitution C T downstream_gene_variant MELA-AU 14 103366012 103366012 single base substitution C T intron_variant MELA-AU 14 103366552 103366553 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 103366552 103366553 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 103366720 103366720 single base substitution C T downstream_gene_variant MELA-AU 14 103366720 103366720 single base substitution C T intron_variant MELA-AU 14 103367591 103367591 single base substitution C T downstream_gene_variant MELA-AU 14 103367591 103367591 single base substitution C T intron_variant MELA-AU 14 103367762 103367762 single base substitution G A downstream_gene_variant MELA-AU 14 103367762 103367762 single base substitution G A intron_variant MELA-AU 14 103367909 103367909 single base substitution C T downstream_gene_variant MELA-AU 14 103367909 103367909 single base substitution C T intron_variant MELA-AU 14 103368008 103368008 single base substitution C T downstream_gene_variant MELA-AU 14 103368008 103368008 single base substitution C T intron_variant MELA-AU 14 103368222 103368222 single base substitution C G downstream_gene_variant MELA-AU 14 103368222 103368222 single base substitution C G intron_variant MELA-AU 14 103368347 103368347 single base substitution C T downstream_gene_variant MELA-AU 14 103368347 103368347 single base substitution C T intron_variant MELA-AU 14 103368536 103368536 single base substitution C T downstream_gene_variant MELA-AU 14 103368536 103368536 single base substitution C T intron_variant MELA-AU 14 103368546 103368546 single base substitution T C downstream_gene_variant MELA-AU 14 103368546 103368546 single base substitution T C intron_variant MELA-AU 14 103368611 103368611 single base substitution C T downstream_gene_variant MELA-AU 14 103368611 103368611 single base substitution C T intron_variant MELA-AU 14 103368725 103368725 single base substitution C T intron_variant MELA-AU 14 103368942 103368942 single base substitution C T intron_variant MELA-AU 14 103368960 103368960 single base substitution C T intron_variant MELA-AU 14 103369409 103369410 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 103370160 103370160 single base substitution C T intron_variant MELA-AU 14 103370735 103370735 single base substitution T G intron_variant MELA-AU 14 103370819 103370820 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 103371493 103371493 single base substitution C T intron_variant MELA-AU 14 103371638 103371638 single base substitution C T synonymous_variant V236V 708C>T MELA-AU 14 103371638 103371638 single base substitution C T synonymous_variant V325V 975C>T MELA-AU 14 103371638 103371638 single base substitution C T synonymous_variant V383V 1149C>T MELA-AU 14 103371638 103371638 single base substitution C T synonymous_variant V408V 1224C>T MELA-AU 14 103371843 103371843 single base substitution A T downstream_gene_variant MELA-AU 14 103371843 103371843 single base substitution A T missense_variant I394F 1180A>T MELA-AU 14 103371843 103371843 single base substitution A T missense_variant I452F 1354A>T MELA-AU 14 103371843 103371843 single base substitution A T missense_variant I477F 1429A>T MELA-AU 14 103371845 103371845 single base substitution C T downstream_gene_variant MELA-AU 14 103371845 103371845 single base substitution C T synonymous_variant I394I 1182C>T MELA-AU 14 103371845 103371845 single base substitution C T synonymous_variant I452I 1356C>T MELA-AU 14 103371845 103371845 single base substitution C T synonymous_variant I477I 1431C>T MELA-AU 14 103372004 103372004 single base substitution C T downstream_gene_variant MELA-AU 14 103372004 103372004 single base substitution C T synonymous_variant I447I 1341C>T MELA-AU 14 103372004 103372004 single base substitution C T synonymous_variant I505I 1515C>T MELA-AU 14 103372004 103372004 single base substitution C T synonymous_variant I530I 1590C>T MELA-AU 14 103372117 103372117 single base substitution C T downstream_gene_variant MELA-AU 14 103372117 103372117 single base substitution C T missense_variant P485L 1454C>T MELA-AU 14 103372117 103372117 single base substitution C T missense_variant P543L 1628C>T MELA-AU 14 103372117 103372117 single base substitution C T missense_variant P568L 1703C>T MELA-AU 14 103372190 103372190 single base substitution C T 3_prime_UTR_variant MELA-AU 14 103372190 103372190 single base substitution C T downstream_gene_variant MELA-AU 14 103372224 103372224 single base substitution G A 3_prime_UTR_variant MELA-AU 14 103372224 103372224 single base substitution G A downstream_gene_variant MELA-AU 14 103372455 103372455 single base substitution A G 3_prime_UTR_variant MELA-AU 14 103372455 103372455 single base substitution A G downstream_gene_variant MELA-AU 14 103373056 103373057 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 14 103373056 103373057 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 103373326 103373326 single base substitution C T 3_prime_UTR_variant MELA-AU 14 103373326 103373326 single base substitution C T downstream_gene_variant MELA-AU 14 103374097 103374097 single base substitution C T 3_prime_UTR_variant MELA-AU 14 103374097 103374097 single base substitution C T downstream_gene_variant MELA-AU 14 103374138 103374138 single base substitution C T 3_prime_UTR_variant MELA-AU 14 103374138 103374138 single base substitution C T downstream_gene_variant MELA-AU 14 103374963 103374963 single base substitution T C 3_prime_UTR_variant MELA-AU 14 103374963 103374963 single base substitution T C downstream_gene_variant MELA-AU 14 103375268 103375268 single base substitution C T 3_prime_UTR_variant MELA-AU 14 103375268 103375268 single base substitution C T downstream_gene_variant MELA-AU 14 103375276 103375276 single base substitution G A 3_prime_UTR_variant MELA-AU 14 103375276 103375276 single base substitution G A downstream_gene_variant MELA-AU 14 103375689 103375689 single base substitution C T 3_prime_UTR_variant MELA-AU 14 103375689 103375689 single base substitution C T downstream_gene_variant MELA-AU 14 103375732 103375732 single base substitution C T 3_prime_UTR_variant MELA-AU 14 103375732 103375732 single base substitution C T downstream_gene_variant MELA-AU 14 103375840 103375840 single base substitution C T 3_prime_UTR_variant MELA-AU 14 103375840 103375840 single base substitution C T downstream_gene_variant MELA-AU 14 103375862 103375863 multiple base substitution (>=2bp and <=200bp) CC GT 3_prime_UTR_variant MELA-AU 14 103375862 103375863 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 14 103376124 103376124 single base substitution C T 3_prime_UTR_variant MELA-AU 14 103376124 103376124 single base substitution C T downstream_gene_variant MELA-AU 14 103376513 103376513 single base substitution C G 3_prime_UTR_variant MELA-AU 14 103376513 103376513 single base substitution C G downstream_gene_variant MELA-AU 14 103376665 103376665 single base substitution C T 3_prime_UTR_variant MELA-AU 14 103376665 103376665 single base substitution C T downstream_gene_variant MELA-AU 14 103377145 103377145 single base substitution C T 3_prime_UTR_variant MELA-AU 14 103377145 103377145 single base substitution C T downstream_gene_variant MELA-AU 14 103377550 103377550 single base substitution C T 3_prime_UTR_variant MELA-AU 14 103377550 103377550 single base substitution C T downstream_gene_variant MELA-AU 14 103378936 103378936 single base substitution C T downstream_gene_variant MELA-AU 14 103379779 103379779 single base substitution G A downstream_gene_variant MELA-AU 14 103379821 103379821 single base substitution C T downstream_gene_variant MELA-AU 14 103379887 103379887 single base substitution G A downstream_gene_variant MELA-AU 14 103380223 103380223 single base substitution C T downstream_gene_variant MELA-AU 14 103380954 103380954 single base substitution C T downstream_gene_variant MELA-AU 14 103380955 103380955 single base substitution C T downstream_gene_variant MELA-AU 14 103380972 103380972 single base substitution G A downstream_gene_variant MELA-AU 14 103381415 103381415 single base substitution A G downstream_gene_variant MELA-AU 14 103381638 103381639 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 103381741 103381741 single base substitution C T downstream_gene_variant MELA-AU 14 103382273 103382273 single base substitution G A downstream_gene_variant MELA-AU 14 103382307 103382307 single base substitution C T downstream_gene_variant MELA-AU 14 103382381 103382381 single base substitution C T downstream_gene_variant MELA-AU 14 103382487 103382487 single base substitution C T downstream_gene_variant ORCA-IN 14 103251733 103251733 single base substitution G A intron_variant ORCA-IN 14 103253857 103253857 deletion of <=200bp A - intron_variant ORCA-IN 14 103253857 103253858 deletion of <=200bp AA - intron_variant ORCA-IN 14 103254149 103254149 deletion of <=200bp T - intron_variant ORCA-IN 14 103254194 103254194 single base substitution C T intron_variant ORCA-IN 14 103256152 103256152 deletion of <=200bp T - intron_variant ORCA-IN 14 103257357 103257357 insertion of <=200bp - T intron_variant ORCA-IN 14 103257358 103257358 deletion of <=200bp T - intron_variant ORCA-IN 14 103260499 103260500 deletion of <=200bp TC - intron_variant ORCA-IN 14 103269166 103269166 single base substitution A T intron_variant ORCA-IN 14 103269913 103269913 insertion of <=200bp - T intron_variant ORCA-IN 14 103269914 103269914 deletion of <=200bp T - intron_variant ORCA-IN 14 103275867 103275867 deletion of <=200bp T - intron_variant ORCA-IN 14 103277887 103277887 insertion of <=200bp - T intron_variant ORCA-IN 14 103279790 103279790 insertion of <=200bp - T intron_variant ORCA-IN 14 103279795 103279795 deletion of <=200bp C - intron_variant ORCA-IN 14 103285393 103285393 deletion of <=200bp A - intron_variant ORCA-IN 14 103303479 103303479 deletion of <=200bp G - intron_variant ORCA-IN 14 103309519 103309519 single base substitution G T intron_variant ORCA-IN 14 103311214 103311214 deletion of <=200bp A - intron_variant ORCA-IN 14 103311547 103311547 deletion of <=200bp T - intron_variant ORCA-IN 14 103320174 103320174 insertion of <=200bp - A intron_variant ORCA-IN 14 103320175 103320175 deletion of <=200bp A - intron_variant ORCA-IN 14 103321139 103321139 deletion of <=200bp T - intron_variant ORCA-IN 14 103340185 103340185 single base substitution C A downstream_gene_variant ORCA-IN 14 103340185 103340185 single base substitution C A intron_variant ORCA-IN 14 103340185 103340185 single base substitution C A upstream_gene_variant ORCA-IN 14 103340988 103340988 deletion of <=200bp T - downstream_gene_variant ORCA-IN 14 103340988 103340988 deletion of <=200bp T - intron_variant ORCA-IN 14 103340988 103340988 deletion of <=200bp T - upstream_gene_variant ORCA-IN 14 103345554 103345554 single base substitution C G downstream_gene_variant ORCA-IN 14 103345554 103345554 single base substitution C G intron_variant ORCA-IN 14 103347059 103347059 single base substitution T C downstream_gene_variant ORCA-IN 14 103347059 103347059 single base substitution T C intron_variant ORCA-IN 14 103351148 103351148 insertion of <=200bp - A intron_variant ORCA-IN 14 103358384 103358384 insertion of <=200bp - T intron_variant ORCA-IN 14 103359558 103359558 deletion of <=200bp A - intron_variant ORCA-IN 14 103367586 103367586 single base substitution T C downstream_gene_variant ORCA-IN 14 103367586 103367586 single base substitution T C intron_variant ORCA-IN 14 103377060 103377060 single base substitution G C 3_prime_UTR_variant ORCA-IN 14 103377060 103377060 single base substitution G C downstream_gene_variant ORCA-IN 14 103379033 103379033 single base substitution G A downstream_gene_variant OV-AU 14 103240344 103240344 single base substitution C T upstream_gene_variant OV-AU 14 103240824 103240824 single base substitution A T upstream_gene_variant OV-AU 14 103243346 103243346 single base substitution G A upstream_gene_variant OV-AU 14 103245040 103245040 single base substitution G T intron_variant OV-AU 14 103254013 103254013 single base substitution C A intron_variant OV-AU 14 103262315 103262315 single base substitution A T intron_variant OV-AU 14 103294232 103294232 single base substitution C T intron_variant OV-AU 14 103294232 103294232 single base substitution C T upstream_gene_variant OV-AU 14 103297067 103297067 single base substitution G C intron_variant OV-AU 14 103297960 103297960 single base substitution G T intron_variant OV-AU 14 103310049 103310049 single base substitution G C intron_variant OV-AU 14 103313074 103313074 single base substitution G T intron_variant OV-AU 14 103314403 103314403 single base substitution G T intron_variant OV-AU 14 103325666 103325666 single base substitution G C intron_variant OV-AU 14 103335867 103335867 single base substitution G C intron_variant OV-AU 14 103335867 103335867 single base substitution G C upstream_gene_variant OV-AU 14 103352583 103352583 single base substitution G A exon_variant OV-AU 14 103352583 103352583 single base substitution G A intron_variant OV-AU 14 103352583 103352583 single base substitution G A missense_variant V210I 628G>A OV-AU 14 103357078 103357078 single base substitution G A intron_variant OV-AU 14 103359585 103359585 single base substitution A G intron_variant OV-AU 14 103366807 103366807 single base substitution G A downstream_gene_variant OV-AU 14 103366807 103366807 single base substitution G A intron_variant OV-AU 14 103367581 103367581 single base substitution A T downstream_gene_variant OV-AU 14 103367581 103367581 single base substitution A T intron_variant OV-AU 14 103370195 103370195 single base substitution C G intron_variant OV-AU 14 103371591 103371591 single base substitution A T missense_variant S221C 661A>T OV-AU 14 103371591 103371591 single base substitution A T missense_variant S310C 928A>T OV-AU 14 103371591 103371591 single base substitution A T missense_variant S368C 1102A>T OV-AU 14 103371591 103371591 single base substitution A T missense_variant S393C 1177A>T OV-AU 14 103376495 103376495 single base substitution G A 3_prime_UTR_variant OV-AU 14 103376495 103376495 single base substitution G A downstream_gene_variant PACA-AU 14 103239436 103239436 single base substitution C T upstream_gene_variant PACA-AU 14 103243009 103243009 single base substitution C T upstream_gene_variant PACA-AU 14 103254941 103254941 single base substitution C T intron_variant PACA-AU 14 103259718 103259718 single base substitution A G intron_variant PACA-AU 14 103260615 103260615 single base substitution G C intron_variant PACA-AU 14 103265384 103265384 single base substitution C T intron_variant PACA-AU 14 103270098 103270098 single base substitution C T intron_variant PACA-AU 14 103270805 103270805 single base substitution G A intron_variant PACA-AU 14 103279311 103279311 single base substitution T G intron_variant PACA-AU 14 103286070 103286070 single base substitution A G intron_variant PACA-AU 14 103297160 103297160 single base substitution C G intron_variant PACA-AU 14 103298585 103298588 deletion of <=200bp TTTC - intron_variant PACA-AU 14 103300326 103300326 insertion of <=200bp - G intron_variant PACA-AU 14 103303488 103303488 single base substitution G T intron_variant PACA-AU 14 103312868 103312868 single base substitution A G intron_variant PACA-AU 14 103324865 103324867 deletion of <=200bp ATA - intron_variant PACA-AU 14 103329749 103329749 single base substitution G A intron_variant PACA-AU 14 103331717 103331717 single base substitution G A intron_variant PACA-AU 14 103332443 103332443 single base substitution G T intron_variant PACA-AU 14 103335971 103335971 single base substitution G A intron_variant PACA-AU 14 103335971 103335971 single base substitution G A upstream_gene_variant PACA-AU 14 103344116 103344116 single base substitution T C downstream_gene_variant PACA-AU 14 103344116 103344116 single base substitution T C intron_variant PACA-AU 14 103352628 103352628 single base substitution C T intron_variant PACA-AU 14 103356521 103356521 single base substitution G A intron_variant PACA-AU 14 103363087 103363087 single base substitution C A intron_variant PACA-AU 14 103368718 103368718 single base substitution T C intron_variant PACA-AU 14 103369576 103369576 single base substitution A G intron_variant PACA-AU 14 103371957 103371957 single base substitution G A downstream_gene_variant PACA-AU 14 103371957 103371957 single base substitution G A missense_variant D432N 1294G>A PACA-AU 14 103371957 103371957 single base substitution G A missense_variant D490N 1468G>A PACA-AU 14 103371957 103371957 single base substitution G A missense_variant D515N 1543G>A PACA-AU 14 103379910 103379910 single base substitution G C downstream_gene_variant PACA-AU 14 103381228 103381228 single base substitution C T downstream_gene_variant PACA-AU 14 103382725 103382725 single base substitution C A downstream_gene_variant PACA-CA 14 103243257 103243257 single base substitution C T upstream_gene_variant PACA-CA 14 103247822 103247822 single base substitution G T intron_variant PACA-CA 14 103248655 103248655 single base substitution C T intron_variant PACA-CA 14 103261370 103261370 single base substitution G C intron_variant PACA-CA 14 103262825 103262825 single base substitution T C intron_variant PACA-CA 14 103267980 103267980 single base substitution G A intron_variant PACA-CA 14 103275562 103275562 single base substitution A G intron_variant PACA-CA 14 103280174 103280174 single base substitution T C intron_variant PACA-CA 14 103281033 103281033 deletion of <=200bp T - intron_variant PACA-CA 14 103282854 103282854 single base substitution A G intron_variant PACA-CA 14 103285278 103285278 single base substitution A T intron_variant PACA-CA 14 103291673 103291673 single base substitution C T intron_variant PACA-CA 14 103296792 103296792 single base substitution G A 5_prime_UTR_variant PACA-CA 14 103296792 103296792 single base substitution G A intron_variant PACA-CA 14 103309228 103309228 single base substitution A C intron_variant PACA-CA 14 103309863 103309863 single base substitution C A intron_variant PACA-CA 14 103310823 103310823 single base substitution C T intron_variant PACA-CA 14 103315585 103315585 single base substitution C T intron_variant PACA-CA 14 103317153 103317153 single base substitution C A intron_variant PACA-CA 14 103321868 103321868 single base substitution C T intron_variant PACA-CA 14 103330960 103330960 single base substitution A T intron_variant PACA-CA 14 103333497 103333497 single base substitution G A intron_variant PACA-CA 14 103333497 103333497 single base substitution G A upstream_gene_variant PACA-CA 14 103337891 103337891 single base substitution C T intron_variant PACA-CA 14 103337891 103337891 single base substitution C T upstream_gene_variant PACA-CA 14 103343781 103343781 single base substitution A C downstream_gene_variant PACA-CA 14 103343781 103343781 single base substitution A C intron_variant PACA-CA 14 103343790 103343790 single base substitution T C downstream_gene_variant PACA-CA 14 103343790 103343790 single base substitution T C intron_variant PACA-CA 14 103348049 103348049 single base substitution G A intron_variant PACA-CA 14 103349935 103349935 single base substitution T C intron_variant PACA-CA 14 103352246 103352246 single base substitution T G intron_variant PACA-CA 14 103356436 103356436 single base substitution C T intron_variant PACA-CA 14 103357514 103357514 single base substitution T A intron_variant PACA-CA 14 103357875 103357875 deletion of <=200bp A - intron_variant PACA-CA 14 103359176 103359176 insertion of <=200bp - CA intron_variant PACA-CA 14 103360170 103360170 single base substitution C T intron_variant PACA-CA 14 103367468 103367468 single base substitution G A downstream_gene_variant PACA-CA 14 103367468 103367468 single base substitution G A intron_variant PACA-CA 14 103369573 103369573 single base substitution A G intron_variant PACA-CA 14 103369664 103369664 single base substitution G T stop_gained E173* 517G>T PACA-CA 14 103369664 103369664 single base substitution G T stop_gained E262* 784G>T PACA-CA 14 103369664 103369664 single base substitution G T stop_gained E320* 958G>T PACA-CA 14 103369664 103369664 single base substitution G T stop_gained E345* 1033G>T PACA-CA 14 103370165 103370165 single base substitution C T intron_variant PACA-CA 14 103372130 103372130 single base substitution T C 3_prime_UTR_variant PACA-CA 14 103372130 103372130 single base substitution T C downstream_gene_variant PACA-CA 14 103374074 103374074 single base substitution G A 3_prime_UTR_variant PACA-CA 14 103374074 103374074 single base substitution G A downstream_gene_variant PAEN-AU 14 103241973 103241973 single base substitution C G upstream_gene_variant PAEN-AU 14 103273907 103273907 single base substitution C T intron_variant PAEN-AU 14 103343662 103343662 single base substitution T C downstream_gene_variant PAEN-AU 14 103343662 103343662 single base substitution T C intron_variant PAEN-AU 14 103363993 103363993 single base substitution T A downstream_gene_variant PAEN-AU 14 103363993 103363993 single base substitution T A intron_variant PAEN-IT 14 103286361 103286361 single base substitution C T intron_variant PAEN-IT 14 103306856 103306856 single base substitution C G intron_variant PAEN-IT 14 103315480 103315480 single base substitution C G intron_variant PAEN-IT 14 103324053 103324053 single base substitution A T intron_variant PAEN-IT 14 103339969 103339969 single base substitution C T downstream_gene_variant PAEN-IT 14 103339969 103339969 single base substitution C T intron_variant PAEN-IT 14 103339969 103339969 single base substitution C T upstream_gene_variant PAEN-IT 14 103348349 103348349 single base substitution A G intron_variant PAEN-IT 14 103359159 103359159 single base substitution G A intron_variant PBCA-DE 14 103256899 103256899 single base substitution G A intron_variant PBCA-DE 14 103258316 103258316 deletion of <=200bp T - intron_variant PBCA-DE 14 103268436 103268436 single base substitution A C intron_variant PBCA-DE 14 103269521 103269533 deletion of <=200bp CTCCTGGCTTGGC - intron_variant PBCA-DE 14 103275160 103275160 deletion of <=200bp T - intron_variant PBCA-DE 14 103284553 103284553 single base substitution A G intron_variant PBCA-DE 14 103293541 103293541 single base substitution G A intron_variant PBCA-DE 14 103293541 103293541 single base substitution G A upstream_gene_variant PBCA-DE 14 103294853 103294853 single base substitution C A intron_variant PBCA-DE 14 103294853 103294853 single base substitution C A upstream_gene_variant PBCA-DE 14 103295779 103295779 single base substitution G T intron_variant PBCA-DE 14 103295779 103295779 single base substitution G T upstream_gene_variant PBCA-DE 14 103300512 103300512 single base substitution G A intron_variant PBCA-DE 14 103314323 103314323 single base substitution C G intron_variant PBCA-DE 14 103325021 103325021 single base substitution T C intron_variant PBCA-DE 14 103328528 103328528 single base substitution G T intron_variant PBCA-DE 14 103329189 103329189 single base substitution C A intron_variant PBCA-DE 14 103330365 103330365 single base substitution G A intron_variant PBCA-DE 14 103330781 103330781 single base substitution G A intron_variant PBCA-DE 14 103343303 103343303 single base substitution T C downstream_gene_variant PBCA-DE 14 103343303 103343303 single base substitution T C intron_variant PBCA-DE 14 103354223 103354223 single base substitution C T intron_variant PBCA-DE 14 103354739 103354739 single base substitution C T intron_variant PBCA-DE 14 103365461 103365461 single base substitution G A downstream_gene_variant PBCA-DE 14 103365461 103365461 single base substitution G A intron_variant PBCA-DE 14 103370822 103370822 single base substitution G C intron_variant PBCA-DE 14 103372267 103372267 single base substitution G A 3_prime_UTR_variant PBCA-DE 14 103372267 103372267 single base substitution G A downstream_gene_variant PBCA-DE 14 103375886 103375886 single base substitution G A 3_prime_UTR_variant PBCA-DE 14 103375886 103375886 single base substitution G A downstream_gene_variant PBCA-DE 14 103377930 103377930 single base substitution C T downstream_gene_variant PRAD-CA 14 103244946 103244946 single base substitution A G intron_variant PRAD-CA 14 103250812 103250812 single base substitution G A intron_variant PRAD-CA 14 103251140 103251140 single base substitution C T intron_variant PRAD-CA 14 103252446 103252446 single base substitution A C intron_variant PRAD-CA 14 103303487 103303487 single base substitution T G intron_variant PRAD-CA 14 103320409 103320409 single base substitution A T intron_variant PRAD-CA 14 103337537 103337537 single base substitution C T intron_variant PRAD-CA 14 103337537 103337537 single base substitution C T upstream_gene_variant PRAD-CA 14 103358746 103358746 single base substitution A T intron_variant PRAD-CA 14 103378916 103378916 single base substitution A G downstream_gene_variant PRAD-UK 14 103244548 103244548 single base substitution G T intron_variant PRAD-UK 14 103261180 103261180 single base substitution A T intron_variant PRAD-UK 14 103269915 103269915 single base substitution T A intron_variant PRAD-UK 14 103269917 103269917 single base substitution T A intron_variant PRAD-UK 14 103281986 103281986 single base substitution G T intron_variant PRAD-UK 14 103293881 103293881 single base substitution G A intron_variant PRAD-UK 14 103293881 103293881 single base substitution G A upstream_gene_variant PRAD-UK 14 103297785 103297785 single base substitution T A intron_variant PRAD-UK 14 103303913 103303913 single base substitution T A intron_variant PRAD-UK 14 103317727 103317727 single base substitution C T intron_variant PRAD-UK 14 103336794 103336805 deletion of <=200bp TCGCCCGGCCCG - intron_variant PRAD-UK 14 103336794 103336805 deletion of <=200bp TCGCCCGGCCCG - upstream_gene_variant PRAD-UK 14 103339774 103339774 single base substitution G C downstream_gene_variant PRAD-UK 14 103339774 103339774 single base substitution G C intron_variant PRAD-UK 14 103339774 103339774 single base substitution G C upstream_gene_variant PRAD-UK 14 103344876 103344876 single base substitution C T downstream_gene_variant PRAD-UK 14 103344876 103344876 single base substitution C T intron_variant PRAD-UK 14 103371599 103371599 single base substitution C T synonymous_variant H223H 669C>T PRAD-UK 14 103371599 103371599 single base substitution C T synonymous_variant H312H 936C>T PRAD-UK 14 103371599 103371599 single base substitution C T synonymous_variant H370H 1110C>T PRAD-UK 14 103371599 103371599 single base substitution C T synonymous_variant H395H 1185C>T RECA-EU 14 103239720 103239720 single base substitution C A upstream_gene_variant RECA-EU 14 103246003 103246003 single base substitution G T intron_variant RECA-EU 14 103250345 103250345 single base substitution G T intron_variant RECA-EU 14 103256282 103256282 single base substitution A G intron_variant RECA-EU 14 103263025 103263025 single base substitution G C intron_variant RECA-EU 14 103270221 103270221 single base substitution G A intron_variant RECA-EU 14 103297528 103297528 single base substitution C T intron_variant RECA-EU 14 103298204 103298204 single base substitution C A intron_variant RECA-EU 14 103301538 103301538 single base substitution G T intron_variant RECA-EU 14 103302255 103302255 single base substitution A C intron_variant RECA-EU 14 103303598 103303598 single base substitution C T intron_variant RECA-EU 14 103311798 103311798 single base substitution C A intron_variant RECA-EU 14 103320661 103320661 single base substitution G A intron_variant RECA-EU 14 103322118 103322118 single base substitution A T intron_variant RECA-EU 14 103323920 103323920 single base substitution C G intron_variant RECA-EU 14 103355412 103355412 single base substitution C T intron_variant RECA-EU 14 103359953 103359953 single base substitution C T intron_variant RECA-EU 14 103366433 103366433 single base substitution G A downstream_gene_variant RECA-EU 14 103366433 103366433 single base substitution G A intron_variant RECA-EU 14 103378598 103378598 single base substitution C G downstream_gene_variant SKCA-BR 14 103242956 103242956 single base substitution A G upstream_gene_variant SKCA-BR 14 103243456 103243456 insertion of <=200bp - GGCGGGGAC upstream_gene_variant SKCA-BR 14 103244070 103244070 single base substitution C G intron_variant SKCA-BR 14 103244105 103244105 single base substitution C G intron_variant SKCA-BR 14 103244538 103244538 single base substitution T G intron_variant SKCA-BR 14 103244563 103244563 single base substitution T C intron_variant SKCA-BR 14 103245606 103245621 deletion of <=200bp CTTTTTTTTTTTTTTT - intron_variant SKCA-BR 14 103247299 103247299 single base substitution T G intron_variant SKCA-BR 14 103247825 103247825 single base substitution A G intron_variant SKCA-BR 14 103247831 103247831 single base substitution T G intron_variant SKCA-BR 14 103248129 103248129 insertion of <=200bp - AT intron_variant SKCA-BR 14 103251618 103251618 single base substitution C T intron_variant SKCA-BR 14 103252575 103252575 single base substitution C T intron_variant SKCA-BR 14 103253938 103253938 single base substitution C T intron_variant SKCA-BR 14 103255133 103255138 deletion of <=200bp TCAAAA - intron_variant SKCA-BR 14 103257391 103257391 single base substitution C T intron_variant SKCA-BR 14 103257398 103257398 single base substitution C T intron_variant SKCA-BR 14 103258446 103258446 single base substitution T C intron_variant SKCA-BR 14 103258477 103258477 single base substitution T A intron_variant SKCA-BR 14 103261933 103261933 insertion of <=200bp - ATGTGTGTG intron_variant SKCA-BR 14 103266651 103266651 single base substitution C G intron_variant SKCA-BR 14 103267496 103267496 single base substitution C T intron_variant SKCA-BR 14 103267497 103267497 single base substitution C T intron_variant SKCA-BR 14 103269235 103269235 single base substitution C T intron_variant SKCA-BR 14 103270272 103270272 single base substitution C G intron_variant SKCA-BR 14 103270734 103270734 single base substitution C T intron_variant SKCA-BR 14 103275777 103275777 single base substitution T C intron_variant SKCA-BR 14 103281445 103281445 single base substitution A T intron_variant SKCA-BR 14 103281457 103281457 single base substitution G T intron_variant SKCA-BR 14 103286940 103286951 deletion of <=200bp TATATATATATA - intron_variant SKCA-BR 14 103287843 103287843 single base substitution C T intron_variant SKCA-BR 14 103288337 103288337 single base substitution C T intron_variant SKCA-BR 14 103289343 103289343 insertion of <=200bp - CA intron_variant SKCA-BR 14 103289917 103289917 single base substitution G A intron_variant SKCA-BR 14 103292073 103292073 single base substitution C T intron_variant SKCA-BR 14 103292073 103292073 single base substitution C T upstream_gene_variant SKCA-BR 14 103292858 103292858 single base substitution C T intron_variant SKCA-BR 14 103292858 103292858 single base substitution C T upstream_gene_variant SKCA-BR 14 103294329 103294329 single base substitution C T intron_variant SKCA-BR 14 103294329 103294329 single base substitution C T upstream_gene_variant SKCA-BR 14 103294707 103294707 single base substitution C T intron_variant SKCA-BR 14 103294707 103294707 single base substitution C T upstream_gene_variant SKCA-BR 14 103302208 103302208 single base substitution A G intron_variant SKCA-BR 14 103305547 103305547 insertion of <=200bp - CCTT intron_variant SKCA-BR 14 103307096 103307096 single base substitution C T intron_variant SKCA-BR 14 103307913 103307913 single base substitution G A intron_variant SKCA-BR 14 103309539 103309539 insertion of <=200bp - CA intron_variant SKCA-BR 14 103309542 103309542 single base substitution A T intron_variant SKCA-BR 14 103309763 103309763 single base substitution C T intron_variant SKCA-BR 14 103311855 103311855 insertion of <=200bp - AT intron_variant SKCA-BR 14 103312341 103312347 deletion of <=200bp AAAAAAT - intron_variant SKCA-BR 14 103313845 103313845 single base substitution C T intron_variant SKCA-BR 14 103317661 103317661 single base substitution C T intron_variant SKCA-BR 14 103317662 103317662 single base substitution C T intron_variant SKCA-BR 14 103319752 103319752 single base substitution C T intron_variant SKCA-BR 14 103319759 103319759 single base substitution C T intron_variant SKCA-BR 14 103320328 103320328 single base substitution C T intron_variant SKCA-BR 14 103321138 103321139 deletion of <=200bp GT - intron_variant SKCA-BR 14 103322131 103322132 deletion of <=200bp TA - intron_variant SKCA-BR 14 103325453 103325453 single base substitution C T intron_variant SKCA-BR 14 103327899 103327899 single base substitution T C intron_variant SKCA-BR 14 103328679 103328679 single base substitution T G intron_variant SKCA-BR 14 103329051 103329051 single base substitution C T intron_variant SKCA-BR 14 103330912 103330912 single base substitution G A intron_variant SKCA-BR 14 103333187 103333189 deletion of <=200bp AAC - intron_variant SKCA-BR 14 103336533 103336533 single base substitution C T 5_prime_UTR_variant SKCA-BR 14 103336533 103336533 single base substitution C T upstream_gene_variant SKCA-BR 14 103336899 103336899 single base substitution C T intron_variant SKCA-BR 14 103336899 103336899 single base substitution C T upstream_gene_variant SKCA-BR 14 103339036 103339036 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 14 103339036 103339036 insertion of <=200bp - CT intron_variant SKCA-BR 14 103339036 103339036 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 14 103339804 103339804 single base substitution C A downstream_gene_variant SKCA-BR 14 103339804 103339804 single base substitution C A intron_variant SKCA-BR 14 103339804 103339804 single base substitution C A upstream_gene_variant SKCA-BR 14 103340987 103340987 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 14 103340987 103340987 insertion of <=200bp - CT intron_variant SKCA-BR 14 103340987 103340987 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 14 103342947 103342947 single base substitution C T downstream_gene_variant SKCA-BR 14 103342947 103342947 single base substitution C T exon_variant SKCA-BR 14 103342947 103342947 single base substitution C T intron_variant SKCA-BR 14 103343209 103343209 single base substitution A C downstream_gene_variant SKCA-BR 14 103343209 103343209 single base substitution A C intron_variant SKCA-BR 14 103343279 103343279 single base substitution T G downstream_gene_variant SKCA-BR 14 103343279 103343279 single base substitution T G intron_variant SKCA-BR 14 103343781 103343781 single base substitution A C downstream_gene_variant SKCA-BR 14 103343781 103343781 single base substitution A C intron_variant SKCA-BR 14 103344535 103344535 single base substitution G T downstream_gene_variant SKCA-BR 14 103344535 103344535 single base substitution G T intron_variant SKCA-BR 14 103346824 103346824 single base substitution G A downstream_gene_variant SKCA-BR 14 103346824 103346824 single base substitution G A intron_variant SKCA-BR 14 103346825 103346825 single base substitution G A downstream_gene_variant SKCA-BR 14 103346825 103346825 single base substitution G A intron_variant SKCA-BR 14 103349176 103349176 single base substitution G A intron_variant SKCA-BR 14 103351369 103351369 single base substitution C T intron_variant SKCA-BR 14 103351370 103351370 single base substitution C T intron_variant SKCA-BR 14 103354102 103354102 single base substitution C T intron_variant SKCA-BR 14 103361276 103361276 single base substitution T G intron_variant SKCA-BR 14 103367069 103367069 single base substitution T G downstream_gene_variant SKCA-BR 14 103367069 103367069 single base substitution T G intron_variant SKCA-BR 14 103367747 103367747 single base substitution T C downstream_gene_variant SKCA-BR 14 103367747 103367747 single base substitution T C intron_variant SKCA-BR 14 103368546 103368546 single base substitution T G downstream_gene_variant SKCA-BR 14 103368546 103368546 single base substitution T G intron_variant SKCA-BR 14 103370478 103370478 single base substitution C T intron_variant SKCA-BR 14 103378161 103378161 single base substitution C T downstream_gene_variant SKCA-BR 14 103378553 103378553 single base substitution T C downstream_gene_variant SKCA-BR 14 103379888 103379888 single base substitution A G downstream_gene_variant SKCA-BR 14 103381854 103381854 single base substitution A C downstream_gene_variant SKCM-US 14 103336546 103336546 single base substitution C T missense_variant S3L 8C>T SKCM-US 14 103336546 103336546 single base substitution C T upstream_gene_variant SKCM-US 14 103336638 103336638 single base substitution C T missense_variant P34S 100C>T SKCM-US 14 103336638 103336638 single base substitution C T upstream_gene_variant SKCM-US 14 103341984 103341984 single base substitution G A downstream_gene_variant SKCM-US 14 103341984 103341984 single base substitution G A exon_variant SKCM-US 14 103341984 103341984 single base substitution G A synonymous_variant K107K 321G>A SKCM-US 14 103341984 103341984 single base substitution G A upstream_gene_variant SKCM-US 14 103363602 103363602 single base substitution C T 3_prime_UTR_variant SKCM-US 14 103363602 103363602 single base substitution C T missense_variant S103F 308C>T SKCM-US 14 103363602 103363602 single base substitution C T missense_variant S192F 575C>T SKCM-US 14 103363602 103363602 single base substitution C T missense_variant S250F 749C>T SKCM-US 14 103363602 103363602 single base substitution C T missense_variant S275F 824C>T SKCM-US 14 103363719 103363719 single base substitution C T downstream_gene_variant SKCM-US 14 103363719 103363719 single base substitution C T missense_variant S142F 425C>T SKCM-US 14 103363719 103363719 single base substitution C T missense_variant S231F 692C>T SKCM-US 14 103363719 103363719 single base substitution C T missense_variant S289F 866C>T SKCM-US 14 103363719 103363719 single base substitution C T missense_variant S314F 941C>T SKCM-US 14 103369643 103369643 single base substitution C T missense_variant R166W 496C>T SKCM-US 14 103369643 103369643 single base substitution C T missense_variant R255W 763C>T SKCM-US 14 103369643 103369643 single base substitution C T missense_variant R313W 937C>T SKCM-US 14 103369643 103369643 single base substitution C T missense_variant R338W 1012C>T SKCM-US 14 103371731 103371731 single base substitution C T synonymous_variant S267S 801C>T SKCM-US 14 103371731 103371731 single base substitution C T synonymous_variant S356S 1068C>T SKCM-US 14 103371731 103371731 single base substitution C T synonymous_variant S414S 1242C>T SKCM-US 14 103371731 103371731 single base substitution C T synonymous_variant S439S 1317C>T SKCM-US 14 103371842 103371842 single base substitution C T downstream_gene_variant SKCM-US 14 103371842 103371842 single base substitution C T synonymous_variant V393V 1179C>T SKCM-US 14 103371842 103371842 single base substitution C T synonymous_variant V451V 1353C>T SKCM-US 14 103371842 103371842 single base substitution C T synonymous_variant V476V 1428C>T STAD-US 14 103338278 103338278 single base substitution G A exon_variant STAD-US 14 103338278 103338278 single base substitution G A synonymous_variant A90A 270G>A STAD-US 14 103338278 103338278 single base substitution G A upstream_gene_variant STAD-US 14 103341991 103341991 single base substitution A C downstream_gene_variant STAD-US 14 103341991 103341991 single base substitution A C exon_variant STAD-US 14 103341991 103341991 single base substitution A C missense_variant I110L 328A>C STAD-US 14 103341991 103341991 single base substitution A C upstream_gene_variant STAD-US 14 103371673 103371673 deletion of <=200bp G - frameshift_variant W248 STAD-US 14 103371673 103371673 deletion of <=200bp G - frameshift_variant W337 STAD-US 14 103371673 103371673 deletion of <=200bp G - frameshift_variant W395 STAD-US 14 103371673 103371673 deletion of <=200bp G - frameshift_variant W420 STAD-US 14 103371927 103371927 single base substitution C T downstream_gene_variant STAD-US 14 103371927 103371927 single base substitution C T stop_gained R422* 1264C>T STAD-US 14 103371927 103371927 single base substitution C T stop_gained R480* 1438C>T STAD-US 14 103371927 103371927 single base substitution C T stop_gained R505* 1513C>T STAD-US 14 103372037 103372038 deletion of <=200bp TG - downstream_gene_variant STAD-US 14 103372037 103372038 deletion of <=200bp TG - frameshift_variant TV458 STAD-US 14 103372037 103372038 deletion of <=200bp TG - frameshift_variant TV516 STAD-US 14 103372037 103372038 deletion of <=200bp TG - frameshift_variant TV541 STAD-US 14 103372097 103372097 single base substitution T C downstream_gene_variant STAD-US 14 103372097 103372097 single base substitution T C synonymous_variant D478D 1434T>C STAD-US 14 103372097 103372097 single base substitution T C synonymous_variant D536D 1608T>C STAD-US 14 103372097 103372097 single base substitution T C synonymous_variant D561D 1683T>C UCEC-US 14 103338304 103338304 single base substitution A C downstream_gene_variant UCEC-US 14 103338304 103338304 single base substitution A C missense_variant K99T 296A>C UCEC-US 14 103338304 103338304 single base substitution A C splice_region_variant UCEC-US 14 103338304 103338304 single base substitution A C upstream_gene_variant UCEC-US 14 103342015 103342015 single base substitution C T downstream_gene_variant UCEC-US 14 103342015 103342015 single base substitution C T exon_variant UCEC-US 14 103342015 103342015 single base substitution C T missense_variant R118W 352C>T UCEC-US 14 103342015 103342015 single base substitution C T upstream_gene_variant UCEC-US 14 103352603 103352603 single base substitution C T exon_variant UCEC-US 14 103352603 103352603 single base substitution C T intron_variant UCEC-US 14 103352603 103352603 single base substitution C T synonymous_variant S216S 648C>T UCEC-US 14 103369606 103369606 single base substitution C T synonymous_variant S153S 459C>T UCEC-US 14 103369606 103369606 single base substitution C T synonymous_variant S242S 726C>T UCEC-US 14 103369606 103369606 single base substitution C T synonymous_variant S300S 900C>T UCEC-US 14 103369606 103369606 single base substitution C T synonymous_variant S325S 975C>T UCEC-US 14 103369615 103369615 single base substitution G T missense_variant E156D 468G>T UCEC-US 14 103369615 103369615 single base substitution G T missense_variant E245D 735G>T UCEC-US 14 103369615 103369615 single base substitution G T missense_variant E303D 909G>T UCEC-US 14 103369615 103369615 single base substitution G T missense_variant E328D 984G>T UCEC-US 14 103369743 103369743 single base substitution C T missense_variant A199V 596C>T UCEC-US 14 103369743 103369743 single base substitution C T missense_variant A288V 863C>T UCEC-US 14 103369743 103369743 single base substitution C T missense_variant A346V 1037C>T UCEC-US 14 103369743 103369743 single base substitution C T missense_variant A371V 1112C>T UCEC-US 14 103371801 103371801 single base substitution G A downstream_gene_variant UCEC-US 14 103371801 103371801 single base substitution G A missense_variant D380N 1138G>A UCEC-US 14 103371801 103371801 single base substitution G A missense_variant D438N 1312G>A UCEC-US 14 103371801 103371801 single base substitution G A missense_variant D463N 1387G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 631052 COSM323959 c.1525G>T p.G509* Substitution - Nonsense 14:102905602-102905602 + UM-SCC-2 COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + WSU-HN8 COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + TCGA-CD-5798-01 COSM4049221 c.1513C>T p.R505* Substitution - Nonsense 14:102905590-102905590 + WSU-HN30 COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + UM-SCC-11B COSM3997515 c.937C>G p.R313G Substitution - Missense 1:40069818-40069818 + TCGA-BR-8364-01 COSM4007890 c.1147G>A p.D383N Substitution - Missense 1:40070459-40070459 + ATL072 COSM5705627 c.1276A>T p.K426* Substitution - Nonsense 14:102905353-102905353 + 090T COSM1731222 c.1169A>T p.E390V Substitution - Missense 1:40070481-40070481 + UM-SCC-2 COSM4590387 c.47A>C p.N16T Substitution - Missense 14:102870248-102870248 + LUAD-NYU575 COSM374922 c.146C>G p.S49W Substitution - Missense 1:40060100-40060100 + S02242 COSM5677021 c.210G>C p.Q70H Substitution - Missense 1:40060164-40060164 + LC_C32 COSM1188910 c.79G>C p.A27P Substitution - Missense 14:102870280-102870280 + TCGA-C8-A274-01 COSM1477377 c.880C>T p.Q294* Substitution - Nonsense 14:102897321-102897321 + 2492723 COSM5722263 c.1149C>T p.S383S Substitution - coding silent 14:102905226-102905226 + 11224 COSM4944029 c.193C>T p.Q65* Substitution - Nonsense 14:102870394-102870394 + UM-SCC-11B COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + TCGA-46-6026-01 COSM697020 c.1441G>T p.E481* Substitution - Nonsense 14:102905518-102905518 + HCC134T COSM1607352 c.862A>T p.I288L Substitution - Missense 14:102897303-102897303 + HT55 COSM2025217 c.1475A>T p.Q492L Substitution - Missense 14:102905552-102905552 + WSU-HN8 COSM3865566 c.928T>C p.S310P Substitution - Missense 1:40069809-40069809 + ccRCC-85 COSM1659966 c.1432A>G p.M478V Substitution - Missense 14:102905509-102905509 + TCGA-DK-A3IT-01 COSM1296419 c.326C>G p.S109* Substitution - Nonsense 1:40064258-40064258 + TCGA-EE-A3AE-06 COSM3493925 c.100C>T p.P34S Substitution - Missense 14:102870301-102870301 + TCGA-AN-A0AK-01 COSM5205755 c.1287_1290delAGTC p.S431fs*6 Deletion - Frameshift 1:40070922-40070925 + WSU-HN12 COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + UM-SCC-17B COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + TCGA-G2-A2EF-01 COSM1296421 c.1371C>G p.F457L Substitution - Missense 1:40071476-40071476 + SWE-7 COSM1178598 c.110G>C p.G37A Substitution - Missense 14:102870311-102870311 + Detroit_562 COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + 93VU147T COSM3997515 c.937C>G p.R313G Substitution - Missense 1:40069818-40069818 + SCC-9 COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + CAL27 COSM2025199 c.838G>A p.E280K Substitution - Missense 14:102897279-102897279 + UM-SCC-4 COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + UD-SCC-2 COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + STC263 COSM242026 c.1406C>T p.T469M Substitution - Missense 14:102905483-102905483 + CCRF-CEM COSM1667461 c.974A>T p.E325V Substitution - Missense 1:40069855-40069855 + UPCI:SCC090 COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + TCGA-D3-A2JD-06 COSM3493928 c.1012C>T p.R338W Substitution - Missense 14:102903306-102903306 + SCC-9 COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + UM-SCC-2 COSM3997515 c.937C>G p.R313G Substitution - Missense 1:40069818-40069818 + WSU-HN30 COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + TCGA-AM-5820-01 COSM3689687 c.777G>A p.A259A Substitution - coding silent 1:40067686-40067686 + CAL33 COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + WSU-HN12 COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + TCGA-EE-A182-06 COSM3493927 c.941C>T p.S314F Substitution - Missense 14:102897382-102897382 + TCGA-BK-A0C9-01 COSM909374 c.916C>A p.Q306K Substitution - Missense 1:40069797-40069797 + pfg068T COSM4765367 c.848_849insA p.N285fs*13 Insertion - Frameshift 14:102897289-102897290 + PD13424a COSM5799315 c.1200C>T p.A400A Substitution - coding silent 14:102905277-102905277 + ORL-48 COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + P07-684 COSM247964 c.553C>A p.P185T Substitution - Missense 14:102876508-102876508 + TCGA-CM-4746-01 COSM1368375 c.1517G>A p.R506H Substitution - Missense 14:102905594-102905594 + WSU-HN13 COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + UM-SCC-11B COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + UD-SCC-2 COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + STC291 COSM5053490 c.1422T>C p.A474A Substitution - coding silent 1:40071527-40071527 + ESCC_BICR_053T COSM5442085 c.160G>C p.E54Q Substitution - Missense 14:102870361-102870361 + SCC-9 COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + PT38 COSM5943154 c.937_938insG p.A314fs*10 Insertion - Frameshift 1:40069818-40069819 + TCGA-AX-A0J0-01 COSM953584 c.984G>T p.E328D Substitution - Missense 14:102903278-102903278 + WSU-HN8 COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + WSU-HN6 COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + pfg122T COSM4753450 c.1378C>A p.L460I Substitution - Missense 1:40071483-40071483 + UM-SCC-47 COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + CAL33 COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + BHY COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + CSCC-45-T COSM4466083 c.1415C>T p.S472L Substitution - Missense 14:102905492-102905492 + 8015299 COSM3772878 c.1543G>A p.D515N Substitution - Missense 14:102905620-102905620 + PD4005a COSM219300 c.389T>C p.L130P Substitution - Missense 14:102875715-102875715 + WSU-HN8 COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + B59 COSM1748433 c.562A>G p.S188G Substitution - Missense 1:40066252-40066252 + CSCC-11-T COSM4559141 c.793G>A p.E265K Substitution - Missense 14:102891391-102891391 + BHY COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + TCGA-AG-A02X-01 COSM290711 c.403G>A p.V135M Substitution - Missense 14:102876358-102876358 + TCGA-AP-A059-01 COSM909377 c.1000C>T p.Q334* Substitution - Nonsense 1:40070165-40070165 + UPCI:SCC090 COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + AOCS-060-1-5 COSM3983110 c.628G>A p.V210I Substitution - Missense 14:102886246-102886246 + BICR_22 COSM3865566 c.928T>C p.S310P Substitution - Missense 1:40069809-40069809 + UM-SCC-17B COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + B5-Tumor COSM1748701 c.216C>T p.F72F Substitution - coding silent 14:102870417-102870417 + S46_pre COSM5575042 c.1321T>A p.Y441N Substitution - Missense 14:102905398-102905398 + TCGA-39-5036-01 COSM697021 c.1241A>G p.Y414C Substitution - Missense 14:102905318-102905318 + TCGA-FW-A3R5-06 COSM3885654 c.1317C>T p.S439S Substitution - coding silent 14:102905394-102905394 + BICR_22 COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + BICR_22 COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + 93VU147T COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + SCC-25 COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + TCGA-AX-A0J1-01 COSM953585 c.1112C>T p.A371V Substitution - Missense 14:102903406-102903406 + HCC12 COSM1607353 c.885A>T p.I295I Substitution - coding silent 14:102897326-102897326 + 112461 COSM95386 c.86C>T p.T29M Substitution - Missense 14:102870287-102870287 + CAL27 COSM3865566 c.928T>C p.S310P Substitution - Missense 1:40069809-40069809 + 93VU147T COSM3865566 c.928T>C p.S310P Substitution - Missense 1:40069809-40069809 + TCGA-BR-7707-01 COSM4007886 c.310T>A p.L104M Substitution - Missense 1:40064242-40064242 + Detroit_562 COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + TCGA-EE-A3JB-06 COSM4898305 c.824C>T p.S275F Substitution - Missense 14:102897265-102897265 + SNUH_G22_S1 COSM3997515 c.937C>G p.R313G Substitution - Missense 1:40069818-40069818 + TCGA-EE-A2MR-06 COSM3493929 c.1428C>T p.V476V Substitution - coding silent 14:102905505-102905505 + WSU-HN6 COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + CAL27 COSM4590387 c.47A>C p.N16T Substitution - Missense 14:102870248-102870248 + PTC-7C COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + TCGA-IR-A3L7-01 COSM4849400 c.962G>A p.R321Q Substitution - Missense 14:102903256-102903256 + WSU-HN12 COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + HCT15 COSM2168953 c.85C>A p.R29S Substitution - Missense 1:40059431-40059431 + 555TS COSM673534 c.1337G>A p.G446D Substitution - Missense 1:40070972-40070972 + CAL27 COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + WSU-HN6 COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + TCGA-24-0980-01 COSM74004 c.469A>G p.M157V Substitution - Missense 1:40064504-40064504 + HCT15 COSM2168960 c.588C>T p.Y196Y Substitution - coding silent 1:40066278-40066278 + 2011-2342:2012-302-T COSM4603717 c.105_115del11 p.G38fs*13 Deletion - Frameshift 14:102870306-102870316 + WSU-HN12 COSM4590387 c.47A>C p.N16T Substitution - Missense 14:102870248-102870248 + PTC-515C COSM5446352 c.1469_1470delTT p.F490fs*1 Deletion - Frameshift 14:102905546-102905547 + TCGA-HU-A4H8-01 COSM4007885 c.58G>A p.A20T Substitution - Missense 1:40059404-40059404 + BHY COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + TCGA-F4-6570-01 COSM1368371 c.448C>T p.R150C Substitution - Missense 14:102876403-102876403 + PTC-54C COSM3997515 c.937C>G p.R313G Substitution - Missense 1:40069818-40069818 + TCGA-D1-A17Q-01 COSM953581 c.296A>C p.K99T Substitution - Missense 14:102871967-102871967 + UM-SCC-2 COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + TCGA-CJ-4876-01 COSM3361075 c.806C>G p.S269W Substitution - Missense 14:102891404-102891404 + WSU-HN13 COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + Pat_11_A COSM5248636 c.1127G>A p.R376Q Substitution - Missense 14:102903421-102903421 + WA14 COSM239143 c.963_964delAC p.L322fs*1 Deletion - Frameshift 1:40069844-40069845 + UM-SCC-11B COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + TCGA-BS-A0UJ-01 COSM909370 c.422T>G p.L141R Substitution - Missense 1:40064354-40064354 + 93VU147T COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + RK211_C01 COSM3744224 c.726G>T p.Q242H Substitution - Missense 14:102889634-102889634 + WSU-HN13 COSM3865566 c.928T>C p.S310P Substitution - Missense 1:40069809-40069809 + CSCC-10-T COSM4524006 c.1247G>A p.G416E Substitution - Missense 14:102905324-102905324 + 2492720 COSM5722263 c.1149C>T p.S383S Substitution - coding silent 14:102905226-102905226 + D28 COSM5546002 c.686C>T p.P229L Substitution - Missense 14:102889594-102889594 + BICR_22 COSM4590387 c.47A>C p.N16T Substitution - Missense 14:102870248-102870248 + HCC042T COSM5823745 c.119A>T p.K40M Substitution - Missense 14:102870320-102870320 + UM-SCC-47 COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + UM-SCC-4 COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + LIM2551 COSM4643808 c.61G>A p.V21I Substitution - Missense 1:40059407-40059407 + HCC12T COSM1607353 c.885A>T p.I295I Substitution - coding silent 14:102897326-102897326 + Detroit_562 COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + LUAD-S01346 COSM397470 c.303T>A p.F101L Substitution - Missense 14:102875629-102875629 + UM-SCC-47 COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + TCGA-GC-A3I6-01 COSM1300408 c.1083G>A p.V361V Substitution - coding silent 14:102903377-102903377 + YUWALI COSM1707897 c.463G>T p.E155* Substitution - Nonsense 14:102876418-102876418 + BHY COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + 2011-2322:2012-352-T COSM200018 c.848delA p.N285fs*38 Deletion - Frameshift 14:102897289-102897289 + B5 COSM1748701 c.216C>T p.F72F Substitution - coding silent 14:102870417-102870417 + SCC-9 COSM3997515 c.937C>G p.R313G Substitution - Missense 1:40069818-40069818 + TCGA-BR-8680-01 COSM4049220 c.328A>C p.I110L Substitution - Missense 14:102875654-102875654 + TCGA-AR-A0TU-01 COSM426254 c.85C>G p.R29G Substitution - Missense 1:40059431-40059431 + CSCC-31-T COSM4515796 c.1316_1317CC>TT p.S439F Substitution - Missense 14:102905393-102905394 + BD124T COSM5493229 c.85A>C p.T29P Substitution - Missense 14:102870286-102870286 + PCSI_0023_Pa_P COSM5420176 c.936_937insG p.R313fs*11 Insertion - Frameshift 1:40069817-40069818 + SCC-15 COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + PTC-73C COSM3997515 c.937C>G p.R313G Substitution - Missense 1:40069818-40069818 + TCGA-BR-7197-01 COSM4007889 c.1057A>T p.I353L Substitution - Missense 1:40070222-40070222 + SCC-9 COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + UM-SCC-2 COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + UM-SCC-47 COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + LUAD-S01356 COSM405128 c.1113delG p.Q373fs*13 Deletion - Frameshift 14:102903407-102903407 + SCC-25 COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + B59-Tumor COSM1748433 c.562A>G p.S188G Substitution - Missense 1:40066252-40066252 + WSU-HN12 COSM3865566 c.928T>C p.S310P Substitution - Missense 1:40069809-40069809 + CAL33 COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + UM-SCC-11B COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + SW403 COSM4655221 c.704C>A p.P235Q Substitution - Missense 1:40067613-40067613 + T3535 COSM4669116 c.706delT p.C236fs*36 Deletion - Frameshift 1:40067615-40067615 + UM-SCC-17B COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + SCC-9 COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + TCGA-AZ-5403-01 COSM1368372 c.491A>T p.D164V Substitution - Missense 14:102876446-102876446 + TCGA-AG-3726-01 COSM288256 c.1482G>T p.V494V Substitution - coding silent 14:102905559-102905559 + UM-SCC-2 COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + TCGA-BR-4370-01 COSM4007887 c.678C>T p.A226A Substitution - coding silent 1:40067587-40067587 + CN-AML-NR-08-Dx COSM5425547 c.386T>C p.M129T Substitution - Missense 14:102875712-102875712 + CN-AML-08-T COSM5425547 c.386T>C p.M129T Substitution - Missense 14:102875712-102875712 + TCGA-B5-A11E-01 COSM909376 c.975G>T p.E325D Substitution - Missense 1:40069856-40069856 + 2492721 COSM5722263 c.1149C>T p.S383S Substitution - coding silent 14:102905226-102905226 + UPCI:SCC090 COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + T1743 COSM1342588 c.1306G>A p.E436K Substitution - Missense 1:40070941-40070941 + UM-SCC-17B COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + SCC-9 COSM3865566 c.928T>C p.S310P Substitution - Missense 1:40069809-40069809 + WSU-HN6 COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + TCGA-C5-A1MK-01 COSM4826991 c.26C>T p.S9F Substitution - Missense 14:102870227-102870227 + UM-SCC-47 COSM3865566 c.928T>C p.S310P Substitution - Missense 1:40069809-40069809 + TCGA-C8-A26Y-01 COSM3814277 c.599T>C p.V200A Substitution - Missense 14:102886217-102886217 + C709 COSM4443764 c.1190T>C p.V397A Substitution - Missense 1:40070502-40070502 + PTC-7C COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + GHE0645 COSM5714591 c.1242C>A p.Y414* Substitution - Nonsense 14:102905319-102905319 + BD57T COSM2025196 c.707G>A p.R236H Substitution - Missense 14:102889615-102889615 + T3090 COSM4669115 c.624_625insA p.T210fs*41 Insertion - Frameshift 1:40066314-40066315 + SNU-175 COSM2025206 c.1081G>A p.V361M Substitution - Missense 14:102903375-102903375 + TCGA-C8-A274-01 COSM1477378 c.1049_1050insA p.M350fs*40 Insertion - Frameshift 14:102903343-102903344 + TCGA-HF-7132-01 COSM4049219 c.270G>A p.A90A Substitution - coding silent 14:102871941-102871941 + UM-SCC-17B COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + TCGA-EK-A3GK-01 COSM4852701 c.1198C>G p.Q400E Substitution - Missense 1:40070510-40070510 + SCC-25 COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + 2011-2322:2012-352-T COSM4604256 c.1310C>A p.T437N Substitution - Missense 14:102905387-102905387 + TCGA-AD-5900-01 COSM1368374 c.1420delT p.F475fs*20 Deletion - Frameshift 14:102905497-102905497 + UD-SCC-2 COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + SCC-25 COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + T3262 COSM4735707 c.1516C>T p.R506C Substitution - Missense 14:102905593-102905593 + WSU-HN13 COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + SCC-15 COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + N-Thy004 COSM5094767 c.1290_1296delGGAGGCC p.E431fs*28 Deletion - Frameshift 14:102905367-102905373 + TCGA-A6-5661-01 COSM1368370 c.199G>A p.E67K Substitution - Missense 14:102870400-102870400 + PD4005a COSM219301 c.390G>T p.L130L Substitution - coding silent 14:102875716-102875716 + TCGA-FW-A3TU-06 COSM3865566 c.928T>C p.S310P Substitution - Missense 1:40069809-40069809 + Pat_41_B COSM5847604 c.1441G>A p.E481K Substitution - Missense 14:102905518-102905518 + TCGA-18-3412-01 COSM681407 c.413T>C p.I138T Substitution - Missense 1:40064345-40064345 + CAL27 COSM2025193 c.668C>T p.S223L Substitution - Missense 14:102889576-102889576 + SCC-9 COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + TCGA-CM-4743-01 COSM1342588 c.1306G>A p.E436K Substitution - Missense 1:40070941-40070941 + TCGA-A2-A04R-01 COSM432694 c.245+1G>T p.? Unknown 14:102870447-102870447 + SNUH_G22_S1 COSM3865566 c.928T>C p.S310P Substitution - Missense 1:40069809-40069809 + ESCC-D2 COSM1296419 c.326C>G p.S109* Substitution - Nonsense 1:40064258-40064258 + ORL-48 COSM4590387 c.47A>C p.N16T Substitution - Missense 14:102870248-102870248 + TCGA-AP-A0LE-01 COSM953582 c.648C>T p.S216S Substitution - coding silent 14:102886266-102886266 + YUOTHO COSM5380947 c.483C>T p.A161A Substitution - coding silent 1:40064518-40064518 + 804-02-4TD COSM5416542 c.1259G>A p.W420* Substitution - Nonsense 14:102905336-102905336 + ORL-48 COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + T36 COSM4669114 c.146C>T p.S49L Substitution - Missense 1:40060100-40060100 + tumor_4119279 COSM5947055 c.1584G>A p.M528I Substitution - Missense 14:102905661-102905661 + TCGA-DK-A2I6-01 COSM1296418 c.128A>G p.Y43C Substitution - Missense 1:40060082-40060082 + UM-SCC-2 COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + LUAD-E01317 COSM403585 c.274C>T p.Q92* Substitution - Nonsense 1:40061792-40061792 + UM-SCC-47 COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + TCGA-GD-A3OP-01 COSM1296420 c.1301C>T p.S434F Substitution - Missense 1:40070936-40070936 + NOKSI COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + UD-SCC-2 COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + UPCI:SCC090 COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + WSU-HN12 COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + CSCC-32-T COSM4512078 c.890C>T p.P297L Substitution - Missense 1:40069771-40069771 + UM-SCC-47 COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + LUAD-F00368 COSM340994 c.1014G>T p.R338R Substitution - coding silent 14:102903308-102903308 + ORL-48 COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + I2L-P19Ta-Tumor-Organoid COSM5362488 c.550G>A p.V184I Substitution - Missense 14:102876505-102876505 + CAL27 COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + MOLT-4 COSM1678269 c.1214G>A p.R405H Substitution - Missense 14:102905291-102905291 + TCGA-D8-A143-01 COSM426255 c.498C>G p.N166K Substitution - Missense 1:40064533-40064533 + TCGA-AX-A063-01 COSM953583 c.975C>T p.S325S Substitution - coding silent 14:102903269-102903269 + 15000 COSM4944030 c.815_815delA p.K272fs*11 Deletion - Frameshift 14:102891413-102891413 + TCGA-B5-A0JY-01 COSM909371 c.552A>C p.K184N Substitution - Missense 1:40066242-40066242 + TCGA-EF-5830-01 COSM1560629 c.1335C>A p.G445G Substitution - coding silent 1:40070970-40070970 + TCGA-23-2649-01 COSM1322773 c.41A>C p.Q14P Substitution - Missense 14:102870242-102870242 + TCGA-AA-3715-01 COSM293696 c.847_848insA p.N285fs*13 Insertion - Frameshift 14:102897288-102897289 + CHC197T COSM217059 c.1432_1444del13 p.R479fs*12 Deletion - Frameshift 14:102905509-102905521 + I2L-P19Ta-Tumor-Biopsy COSM5362488 c.550G>A p.V184I Substitution - Missense 14:102876505-102876505 + WSU-HN6 COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + CH-103-T2 COSM5650479 c.1177A>G p.S393G Substitution - Missense 14:102905254-102905254 + CAL33 COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + WSU-HN30 COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + cSCCP7 COSM139283 c.584C>T p.A195V Substitution - Missense 1:40066274-40066274 + S01453 COSM316112 c.1495A>C p.M499L Substitution - Missense 14:102905572-102905572 + DLD1 COSM2168953 c.85C>A p.R29S Substitution - Missense 1:40059431-40059431 + Detroit_562 COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + 2293774 COSM4607334 c.649G>A p.E217K Substitution - Missense 14:102886267-102886267 + UM-SCC-2 COSM3865566 c.928T>C p.S310P Substitution - Missense 1:40069809-40069809 + CAL27 COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + CHC197T COSM217059 c.1432_1444del13 p.R479fs*12 Deletion - Frameshift 14:102905509-102905521 + SCC-25 COSM3865566 c.928T>C p.S310P Substitution - Missense 1:40069809-40069809 + UD-SCC-2 COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + ORL-48 COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + ORL-48 COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + TCGA-BS-A0UV-01 COSM909375 c.938G>A p.R313Q Substitution - Missense 1:40069819-40069819 + TCGA-18-3421-01 COSM697022 c.9G>T p.S3S Substitution - coding silent 14:102870210-102870210 + NOKSI COSM3865566 c.928T>C p.S310P Substitution - Missense 1:40069809-40069809 + WSU-HN8 COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + 4625 COSM4944031 c.1508_1665del158 p.S503fs*2 Deletion - Frameshift 14:102905585-102905742 + WSU-HN30 COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + SCC-15 COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + 0118_CRUK_PC_0118_T1_DNA COSM5423323 c.1185C>T p.H395H Substitution - coding silent 14:102905262-102905262 + SCC-15 COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + TCGA-AP-A0LM-01 COSM953586 c.1387G>A p.D463N Substitution - Missense 14:102905464-102905464 + WSU-HN30 COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + WSU-HN8 COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + UM-SCC-47 COSM3997515 c.937C>G p.R313G Substitution - Missense 1:40069818-40069818 + BICR_22 COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + WSU-HN6 COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + BD114T COSM5504080 c.730A>G p.T244A Substitution - Missense 14:102891328-102891328 + CLL015 COSM1290262 c.246-1G>A p.? Unknown 14:102871916-102871916 + TCGA-BR-6452-01 COSM4007888 c.874C>A p.P292T Substitution - Missense 1:40069755-40069755 + ESCC_117 COSM5640002 c.547C>G p.Q183E Substitution - Missense 14:102876502-102876502 + PD4005a COSM219301 c.390G>T p.L130L Substitution - coding silent 14:102875716-102875716 + BICR_22 COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + SCC-15 COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + BICR_22 COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + CHC197T COSM217059 c.1432_1444del13 p.R479fs*12 Deletion - Frameshift 14:102905509-102905521 + CAL33 COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + SCC-25 COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + LUAD-S01381 COSM398455 c.642G>T p.L214L Substitution - coding silent 14:102886260-102886260 + TCGA-CA-6717-01 COSM1342589 c.1358T>C p.V453A Substitution - Missense 1:40071463-40071463 + CAL27 COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + NOKSI COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + NOKSI COSM4590387 c.47A>C p.N16T Substitution - Missense 14:102870248-102870248 + TCGA-AX-A05Z-01 COSM909373 c.646G>T p.E216* Substitution - Nonsense 1:40067555-40067555 + T55 COSM4735706 c.717C>T p.C239C Substitution - coding silent 14:102889625-102889625 + TCGA-AP-A056-01 COSM909372 c.600C>A p.F200L Substitution - Missense 1:40066290-40066290 + TCGA-AA-3672-01 COSM266183 c.367C>A p.R123R Substitution - coding silent 1:40064299-40064299 + UM-SCC-4 COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + BHY COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + 587376 COSM1199503 c.466G>T p.E156* Substitution - Nonsense 1:40064501-40064501 + NPC8D COSM4995496 c.1319T>G p.L440R Substitution - Missense 14:102905396-102905396 + CSCC-16-T COSM4449657 c.294+2T>C p.? Unknown 1:40061814-40061814 + 93VU147T COSM4590387 c.47A>C p.N16T Substitution - Missense 14:102870248-102870248 + WSU-HN13 COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + SCC-25 COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + WSU-HN8 COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + UPCI:SCC090 COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + UM-SCC-4 COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + 93VU147T COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + TCGA-AZ-4315-01 COSM909373 c.646G>T p.E216* Substitution - Nonsense 1:40067555-40067555 + 2492722 COSM5722263 c.1149C>T p.S383S Substitution - coding silent 14:102905226-102905226 + UM-SCC-4 COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + NOKSI COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + YUWAND COSM1707898 c.1295C>T p.A432V Substitution - Missense 14:102905372-102905372 + PT08_2 COSM4049221 c.1513C>T p.R505* Substitution - Nonsense 14:102905590-102905590 + PT08_1 COSM4049221 c.1513C>T p.R505* Substitution - Nonsense 14:102905590-102905590 + TCGA-CM-5341-01 COSM1342590 c.1387G>A p.G463R Substitution - Missense 1:40071492-40071492 + UM-SCC-2 COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + HCC134 COSM1607352 c.862A>T p.I288L Substitution - Missense 14:102897303-102897303 + TCGA-AA-3815-01 COSM5110279 c.522_523ins21 p.V175_D176ins* Insertion - In frame 1:40064557-40064558 + ESCC_25 COSM5626652 c.1431C>T p.I477I Substitution - coding silent 14:102905508-102905508 + 113805 COSM95388 c.1308G>C p.K436N Substitution - Missense 14:102905385-102905385 + WSU-HN13 COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + UM-SCC-11B COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + TCGA-ER-A19E-06 COSM3489513 c.306C>T p.S102S Substitution - coding silent 1:40064238-40064238 + CAL27 COSM3997515 c.937C>G p.R313G Substitution - Missense 1:40069818-40069818 + 93VU147T COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + CAL27 COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + TCGA-EE-A2MR-06 COSM3493926 c.321G>A p.K107K Substitution - coding silent 14:102875647-102875647 + TCGA-AP-A059-01 COSM909378 c.1077G>A p.T359T Substitution - coding silent 1:40070242-40070242 + UPCI:SCC090 COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + CAL27 COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + 587376 COSM1199504 c.780G>T p.Q260H Substitution - Missense 1:40067689-40067689 + PTC-7C COSM4143931 c.93T>C p.Y31Y Substitution - coding silent 1:40059439-40059439 + WSU-HN8 COSM4590387 c.47A>C p.N16T Substitution - Missense 14:102870248-102870248 + OSCC-GB_01080111 COSM4884387 c.624C>A p.S208R Substitution - Missense 1:40066314-40066314 + TCGA-AM-5821-01 COSM3753791 c.1689G>A p.S563S Substitution - coding silent 14:102905766-102905766 + PTC-70C COSM3997515 c.937C>G p.R313G Substitution - Missense 1:40069818-40069818 + RDES COSM4577692 c.483C>T p.D161D Substitution - coding silent 14:102876438-102876438 + TCGA-56-6546-01 COSM681406 c.902C>A p.S301Y Substitution - Missense 1:40069783-40069783 + 1_PRE-TREATMENT COSM1718317 c.1216C>T p.P406S Substitution - Missense 1:40070851-40070851 + S01453 COSM316112 c.1495A>C p.M499L Substitution - Missense 14:102905572-102905572 + WA16 COSM242026 c.1406C>T p.T469M Substitution - Missense 14:102905483-102905483 + CAL33 COSM4590387 c.47A>C p.N16T Substitution - Missense 14:102870248-102870248 + 2147 COSM144682 c.928C>T p.R310* Substitution - Nonsense 14:102897369-102897369 + UD-SCC-2 COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + 107543 COSM95387 c.806C>T p.S269L Substitution - Missense 14:102891404-102891404 + TCGA-AG-A002-01 COSM259923 c.611G>A p.G204E Substitution - Missense 1:40066301-40066301 + UM-SCC-17B COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + NOKSI COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + AOCS-064-1-6 COSM3983111 c.1177A>T p.S393C Substitution - Missense 14:102905254-102905254 + TCGA-A4-8517-01 COSM3985062 c.1238C>T p.T413I Substitution - Missense 1:40070873-40070873 + Detroit_562 COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + ESCC_11 COSM5624285 c.753C>G p.H251Q Substitution - Missense 14:102891351-102891351 + BICR_22 COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 + CSCC-44-T COSM1707898 c.1295C>T p.A432V Substitution - Missense 14:102905372-102905372 + PD4005a COSM219300 c.389T>C p.L130P Substitution - Missense 14:102875715-102875715 + CAL33 COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + 13445 COSM4944043 c.46_62del17 p.N16fs*3 Deletion - Frameshift 14:102870247-102870263 + TCGA-BG-A0M3-01 COSM909369 c.404G>A p.S135N Substitution - Missense 1:40064336-40064336 + STC232 COSM5053802 c.778G>A p.V260I Substitution - Missense 14:102891376-102891376 + 1_RESISTANT COSM1718317 c.1216C>T p.P406S Substitution - Missense 1:40070851-40070851 + sysucc-880T COSM5462356 c.819G>T p.K273N Substitution - Missense 14:102891417-102891417 + HCC086T COSM5813096 c.1150G>A p.D384N Substitution - Missense 1:40070462-40070462 + YUMOOK COSM1707896 c.365G>T p.R122I Substitution - Missense 14:102875691-102875691 + 2174 COSM144683 c.352C>T p.R118W Substitution - Missense 14:102875678-102875678 + SCC-15 COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + 93VU147T COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + BHY COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + WSU-HN13 COSM3997515 c.937C>G p.R313G Substitution - Missense 1:40069818-40069818 + U2940 COSM5620410 c.41C>T p.A14V Substitution - Missense 1:40059387-40059387 + WSU-HN30 COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + TCGA-FS-A1ZA-06 COSM3489512 c.107C>T p.S36L Substitution - Missense 1:40059453-40059453 + NOKSI COSM4591832 c.685T>G p.C229G Substitution - Missense 1:40067594-40067594 + TCGA-AG-3892-01 COSM258236 c.325G>T p.E109* Substitution - Nonsense 14:102875651-102875651 + TCGA-BR-8487-01 COSM4049222 c.1683T>C p.D561D Substitution - coding silent 14:102905760-102905760 + Detroit_562 COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + UM-SCC-4 COSM4591850 c.745T>G p.Y249D Substitution - Missense 1:40067654-40067654 + TCGA-EE-A181-06 COSM3493924 c.8C>T p.S3L Substitution - Missense 14:102870209-102870209 + WSU-HN12 COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + WSU-HN13 COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + WSU-HN12 COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + TCGA-DI-A0WH-01 COSM953580 c.116A>G p.Y39C Substitution - Missense 14:102870317-102870317 + ESCC_96 COSM5637590 c.321C>T p.P107P Substitution - coding silent 1:40064253-40064253 + S02402 COSM5700165 c.1390G>A p.G464R Substitution - Missense 14:102905467-102905467 + 93VU147T COSM4591839 c.706T>G p.C236G Substitution - Missense 1:40067615-40067615 + UM-SCC-11B COSM4143932 c.734T>G p.I245S Substitution - Missense 1:40067643-40067643 + SCC-25 COSM4590387 c.47A>C p.N16T Substitution - Missense 14:102870248-102870248 + TCGA-D1-A16Y-01 COSM144683 c.352C>T p.R118W Substitution - Missense 14:102875678-102875678 + NOKSI COSM4591858 c.766T>G p.S256A Substitution - Missense 1:40067675-40067675 + HCC014T COSM5814326 c.244A>T p.S82C Substitution - Missense 14:102870445-102870445 + TCGA-G2-A2ES-01 COSM1296417 c.109A>C p.K37Q Substitution - Missense 1:40059455-40059455 + ORL-48 COSM4143933 c.739T>G p.C247G Substitution - Missense 1:40067648-40067648 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.370559;Hs.370561;Hs.370581 1p34.2 2423623|dbSNP|BC013963|A/G|non-coding||1635|Validated; 2423623|dbSNP|BC095440|A/G|non-coding||1640|Validated Hs.510528 14q32.32 601896 1527529|dbSNP|BC075086|C/T|coding|Gly451Gly|1377|Candidate; 1527529|dbSNP|BC075087|C/T|coding|Gly451Gly|1377|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K37Q c.109A>C 1 40525127 BLCA A G Missense p.M157V c.469A>G 1 40530176 OV A G Missense p.Y43C c.128A>G 1 40525754 BLCA A T Missense p.R10S c.30A>T 1 40525048 HNSC C A 3-UTRSNV . c.1425+59C>A 1 40537261 RCCC C A Missense p.R29S c.85C>A 1 40525103 CM C A Missense p.S301Y c.902C>A 1 40535455 LUSC C A Synonymous p.P297P c.891C>A 1 40535444 CM C G Missense p.F457L c.1371C>G 1 40537148 BLCA C G Missense p.N166K c.498C>G 1 40530205 BRCA C G Missense p.R29G c.85C>G 1 40525103 BRCA C G Nonsense p.S109* c.326C>G 1 40529930 BLCA C T Missense p.S36L c.107C>T 1 40525125 CM C T Missense p.S434F c.1301C>T 1 40536608 BLCA C T Missense p.S49L c.146C>T 1 40525772 HNSC C T Synonymous p.S102S c.306C>T 1 40529910 CM C T Synonymous p.V168V c.504C>T 1 40530211 CM - G Frameshift p.A314Sfs*10 c.938dupG 1 40535490 RCCC T C Missense p.I138T c.413T>C 1 40530017 LUSC T C Synonymous p.N423N c.1269T>C 1 40536576 STAD T - Frameshift p.F300Sfs*42 c.899delT 1 40535451 PRAD A C Missense p.M499L c.1495A>C 14 103371909 SCLC - A Frameshift p.S352Efs*38 c.1052dupA 14 103369681 BRCA A G IntronicSNV . c.570+3196A>G 14 103346058 HC A G Missense p.N312S c.935A>G 14 103363713 BRCA A G Missense p.Y414C c.1241A>G 14 103371655 LUSC ATATTAA - Frameshift p.Y548*fs*1 c.1644_1650delTATTAAA 14 103372057 LUSC C - Frameshift p.Q211Rfs*4 c.631delC 14 103352585 HNSC C G Missense p.S269W c.806C>G 14 103357741 RCCC C T 3-UTRSNV . c.1704+41C>T 14 103372159 CM C T Missense p.A412V c.1235C>T 14 103371649 LUAD C T Missense p.P34S c.100C>T 14 103336638 CM C T Missense p.R338W c.1012C>T 14 103369643 CM C T Missense p.S275F c.824C>T 14 103363602 CM C T Missense p.S314F c.941C>T 14 103363719 CM C T Missense p.S3L c.8C>T 14 103336546 CM C T Nonsense p.Q294* c.880C>T 14 103363658 BRCA C T Nonsense p.R310* c.928C>T 14 103363706 HNSC C T Nonsense p.R505* c.1513C>T 14 103371927 HNSC C T Nonsense p.R505* c.1513C>T 14 103371927 STAD C T Synonymous p.S216S c.648C>T 14 103352603 UCEC C T Synonymous p.S255S c.765C>T 14 103357700 HNSC C T Synonymous p.S325S c.975C>T 14 103369606 UCEC C T Synonymous p.T437T c.1311C>T 14 103371725 CM G A Missense p.E265K c.793G>A 14 103357728 CM G A Missense p.E363K c.1087G>A 14 103369718 LUAD G A Missense p.R376Q c.1127G>A 14 103369758 LUAD G A Missense p.V135M c.403G>A 14 103342695 COREAD G A Nonsense p.W488* c.1464G>A 14 103371878 MM G A SpliceAcceptorSNV . c.246-1G>A 14 103338253 CLL G A Synonymous p.Q320Q c.960G>A 14 103363738 HNSC G A Synonymous p.V361V c.1083G>A 14 103369714 BLCA G - Frameshift p.K426Nfs*35 c.1278delG 14 103371692 MM G T Nonsense p.E481* c.1441G>T 14 103371855 LUSC G T Nonsense p.G509* c.1525G>T 14 103371939 SCLC G T SpliceDonorSNV . c.245+1G>T 14 103336784 BRCA G T Synonymous p.S3S c.9G>T 14 103336547 LUSC G T Synonymous p.V494V c.1482G>T 14 103371896 COREAD T A Missense p.H388Q c.1164T>A 14 103371578 CM TTTTTTTTTTTTTTG - IntronicDeletion . c.1-30977_1-30963delTTTTTTTTTTTTTTG 14 103305562 CLL