Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 7 158738347 158738347 + Silent SNP G G A TCGA-OR-A5LB-01A-11D-A29I-10 TCGA-OR-A5LB-10A-01D-A29L-10 g.chr7:158738347G>A c.3078G>A c.(3076-3078)gcG>gcA p.A1026A BLCA 7 158662584 158662584 + Silent SNP C C G TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr7:158662584C>G c.54C>G c.(52-54)ctC>ctG p.L18L BLCA 7 158663899 158663899 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr7:158663899G>A c.136G>A c.(136-138)Gag>Aag p.E46K BLCA 7 158663923 158663923 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 g.chr7:158663923G>A c.160G>A c.(160-162)Gag>Aag p.E54K BLCA 7 158672547 158672547 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr7:158672547C>T c.746C>T c.(745-747)tCt>tTt p.S249F BLCA 7 158695103 158695103 + Missense_Mutation SNP G G A TCGA-DK-A6AV-01A-12D-A30E-08 TCGA-DK-A6AV-10A-01D-A30H-08 g.chr7:158695103G>A c.1174G>A c.(1174-1176)Gat>Aat p.D392N BLCA 7 158704352 158704353 + Frame_Shift_Ins INS - - A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr7:158704352_158704353insA c.1572_1573insA c.(1573-1575)aaafs p.K525fs BLCA 7 158715120 158715120 + Silent SNP C C G TCGA-5N-A9KI-01A-31D-A42E-08 TCGA-5N-A9KI-10A-01D-A42H-08 g.chr7:158715120C>G c.1974C>G c.(1972-1974)gtC>gtG p.V658V BLCA 7 158718985 158718985 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr7:158718985C>G c.2365C>G c.(2365-2367)Caa>Gaa p.Q789E BLCA 7 158723187 158723187 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr7:158723187C>T c.2527C>T c.(2527-2529)Ctg>Ttg p.L843L BRCA 7 158672483 158672483 + Nonsense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr7:158672483C>T c.682C>T c.(682-684)Cga>Tga p.R228* BRCA 7 158672659 158672659 + Silent SNP G G A TCGA-A8-A09N-01A-11W-A019-09 TCGA-A8-A09N-10A-01W-A021-09 g.chr7:158672659G>A c.858G>A c.(856-858)gaG>gaA p.E286E BRCA 7 158715127 158715127 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr7:158715127C>A c.1981C>A c.(1981-1983)Cac>Aac p.H661N BRCA 7 158716295 158716295 + Missense_Mutation SNP T T C TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 g.chr7:158716295T>C c.2128T>C c.(2128-2130)Ttt>Ctt p.F710L BRCA 7 158719112 158719112 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr7:158719112C>T c.2391C>T c.(2389-2391)ttC>ttT p.F797F BRCA 7 158723189 158723189 + Silent SNP G G C TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 g.chr7:158723189G>C c.2529G>C c.(2527-2529)ctG>ctC p.L843L BRCA 7 158734770 158734770 + Missense_Mutation SNP A A G TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 g.chr7:158734770A>G c.2933A>G c.(2932-2934)aAc>aGc p.N978S CESC 7 158662589 158662589 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr7:158662589A>C c.59A>C c.(58-60)aAa>aCa p.K20T CESC 7 158664075 158664077 + In_Frame_Del DEL GAA GAA - TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 g.chr7:158664075_158664077delGAA c.312_314delGAA c.(310-315)ctgaag>ctg p.K105del CESC 7 158715181 158715181 + Missense_Mutation SNP T T C TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 g.chr7:158715181T>C c.2035T>C c.(2035-2037)Tgt>Cgt p.C679R CESC 7 158723168 158723168 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr7:158723168C>G c.2508C>G c.(2506-2508)gtC>gtG p.V836V CHOL 7 158704268 158704268 + Silent SNP C C T TCGA-ZH-A8Y6-01A-11D-A417-09 TCGA-ZH-A8Y6-10A-01D-A41A-09 g.chr7:158704268C>T c.1488C>T c.(1486-1488)ctC>ctT p.L496L COAD 7 158664012 158664012 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr7:158664012G>A c.249G>A c.(247-249)gaG>gaA p.E83E COAD 7 158664014 158664014 + Missense_Mutation SNP G G T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr7:158664014G>T c.251G>T c.(250-252)aGg>aTg p.R84M COAD 7 158664076 158664076 + Missense_Mutation SNP A A G TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr7:158664076A>G c.313A>G c.(313-315)Aag>Gag p.K105E COAD 7 158672579 158672579 + Nonsense_Mutation SNP C C T TCGA-CK-4948-01B-11D-1650-10 TCGA-CK-4948-10A-01D-1650-10 g.chr7:158672579C>T c.778C>T c.(778-780)Cga>Tga p.R260* COAD 7 158672600 158672600 + Missense_Mutation SNP T T C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr7:158672600T>C c.799T>C c.(799-801)Ttt>Ctt p.F267L COAD 7 158672600 158672600 + Missense_Mutation SNP T T C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:158672600T>C c.799T>C c.(799-801)Ttt>Ctt p.F267L COAD 7 158672602 158672602 + Missense_Mutation SNP T T A TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr7:158672602T>A c.801T>A c.(799-801)ttT>ttA p.F267L COAD 7 158683965 158683965 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr7:158683965G>A c.1000G>A c.(1000-1002)Gag>Aag p.E334K COAD 7 158695163 158695164 + Frame_Shift_Ins INS - - AA TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr7:158695163_158695164insAA c.1234_1235insAA c.(1234-1236)caafs p.Q412fs COAD 7 158716288 158716288 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr7:158716288G>T c.2121G>T c.(2119-2121)ttG>ttT p.L707F COAD 7 158716409 158716409 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr7:158716409G>A c.2242G>A c.(2242-2244)Gcc>Acc p.A748T COAD 7 158719119 158719119 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:158719119G>A c.2398G>A c.(2398-2400)Gct>Act p.A800T COAD 7 158727181 158727181 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:158727181A>C c.2719A>C c.(2719-2721)Ata>Cta p.I907L COAD 7 158734631 158734631 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:158734631G>A c.2794G>A c.(2794-2796)Gga>Aga p.G932R COAD 7 158734753 158734753 + Silent SNP G G T TCGA-A6-4105-01A-02D-1771-10 TCGA-A6-4105-10A-01D-1771-10 g.chr7:158734753G>T c.2916G>T c.(2914-2916)gtG>gtT p.V972V COADREAD 7 158664012 158664012 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr7:158664012G>A c.249G>A c.(247-249)gaG>gaA p.E83E COADREAD 7 158664014 158664014 + Missense_Mutation SNP G G T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr7:158664014G>T c.251G>T c.(250-252)aGg>aTg p.R84M COADREAD 7 158664076 158664076 + Missense_Mutation SNP A A G TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr7:158664076A>G c.313A>G c.(313-315)Aag>Gag p.K105E COADREAD 7 158672383 158672383 + Silent SNP C C T TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr7:158672383C>T c.582C>T c.(580-582)taC>taT p.Y194Y COADREAD 7 158672483 158672483 + Silent SNP C C A TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr7:158672483C>A c.682C>A c.(682-684)Cga>Aga p.R228R COADREAD 7 158672579 158672579 + Nonsense_Mutation SNP C C T TCGA-CK-4948-01B-11D-1650-10 TCGA-CK-4948-10A-01D-1650-10 g.chr7:158672579C>T c.778C>T c.(778-780)Cga>Tga p.R260* COADREAD 7 158672600 158672600 + Missense_Mutation SNP T T C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr7:158672600T>C c.799T>C c.(799-801)Ttt>Ctt p.F267L COADREAD 7 158672600 158672600 + Missense_Mutation SNP T T C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:158672600T>C c.799T>C c.(799-801)Ttt>Ctt p.F267L COADREAD 7 158672602 158672602 + Missense_Mutation SNP T T A TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr7:158672602T>A c.801T>A c.(799-801)ttT>ttA p.F267L COADREAD 7 158683965 158683965 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr7:158683965G>A c.1000G>A c.(1000-1002)Gag>Aag p.E334K COADREAD 7 158695163 158695164 + Frame_Shift_Ins INS - - AA TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr7:158695163_158695164insAA c.1234_1235insAA c.(1234-1236)caafs p.Q412fs COADREAD 7 158716288 158716288 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr7:158716288G>T c.2121G>T c.(2119-2121)ttG>ttT p.L707F COADREAD 7 158716409 158716409 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr7:158716409G>A c.2242G>A c.(2242-2244)Gcc>Acc p.A748T COADREAD 7 158719119 158719119 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:158719119G>A c.2398G>A c.(2398-2400)Gct>Act p.A800T COADREAD 7 158727181 158727181 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:158727181A>C c.2719A>C c.(2719-2721)Ata>Cta p.I907L COADREAD 7 158734631 158734631 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:158734631G>A c.2794G>A c.(2794-2796)Gga>Aga p.G932R COADREAD 7 158734753 158734753 + Silent SNP G G T TCGA-A6-4105-01A-02D-1771-10 TCGA-A6-4105-10A-01D-1771-10 g.chr7:158734753G>T c.2916G>T c.(2914-2916)gtG>gtT p.V972V ESCA 7 158664026 158664026 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 g.chr7:158664026G>A c.263G>A c.(262-264)aGa>aAa p.R88K ESCA 7 158695219 158695219 + Silent SNP T T C TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 g.chr7:158695219T>C c.1290T>C c.(1288-1290)atT>atC p.I430I ESCA 7 158719119 158719119 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 g.chr7:158719119G>T c.2398G>T c.(2398-2400)Gct>Tct p.A800S ESCA 7 158727131 158727131 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 g.chr7:158727131G>T c.2669G>T c.(2668-2670)aGa>aTa p.R890I GBMLGG 7 158669356 158669359 + Frame_Shift_Del DEL AGAG AGAG - TCGA-DU-A7TA-01A-11D-A33T-08 TCGA-DU-A7TA-10A-01D-A33W-08 g.chr7:158669356_158669359delAGAG c.547_550delAGAG c.(547-552)agagaafs p.RE183fs GBMLGG 7 158716267 158716267 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:158716267G>A c.2100G>A c.(2098-2100)acG>acA p.T700T HNSC 7 158672676 158672676 + Missense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr7:158672676C>T c.875C>T c.(874-876)tCc>tTc p.S292F HNSC 7 158679719 158679719 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr7:158679719G>C c.943G>C c.(943-945)Gag>Cag p.E315Q HNSC 7 158695177 158695177 + Missense_Mutation SNP A A G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 g.chr7:158695177A>G c.1248A>G c.(1246-1248)atA>atG p.I416M HNSC 7 158695196 158695196 + Missense_Mutation SNP A A T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 g.chr7:158695196A>T c.1267A>T c.(1267-1269)Att>Ttt p.I423F HNSC 7 158704239 158704239 + Splice_Site SNP A A G TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 g.chr7:158704239A>G c.e12-1 HNSC 7 158704263 158704263 + Missense_Mutation SNP C C T TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr7:158704263C>T c.1483C>T c.(1483-1485)Cgg>Tgg p.R495W HNSC 7 158716345 158716345 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr7:158716345G>C c.2178G>C c.(2176-2178)ttG>ttC p.L726F HNSC 7 158718982 158718982 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr7:158718982A>T c.2362A>T c.(2362-2364)Act>Tct p.T788S HNSC 7 158718989 158718989 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 g.chr7:158718989A>T c.2369A>T c.(2368-2370)gAa>gTa p.E790V HNSC 7 158726893 158726893 + Missense_Mutation SNP A A G TCGA-BB-A5HY-01A-11D-A28R-08 TCGA-BB-A5HY-10A-01D-A28U-08 g.chr7:158726893A>G c.2620A>G c.(2620-2622)Aat>Gat p.N874D HNSC 7 158738284 158738284 + Missense_Mutation SNP G G T TCGA-HD-8224-01A-11D-2394-08 TCGA-HD-8224-10A-01D-2394-08 g.chr7:158738284G>T c.3015G>T c.(3013-3015)atG>atT p.M1005I HNSC 7 158738290 158738290 + Silent SNP G G T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 g.chr7:158738290G>T c.3021G>T c.(3019-3021)gcG>gcT p.A1007A KIPAN 7 158705779 158705779 + Missense_Mutation SNP T T A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 g.chr7:158705779T>A c.1694T>A c.(1693-1695)gTa>gAa p.V565E KIRC 7 158705779 158705779 + Missense_Mutation SNP T T A TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 g.chr7:158705779T>A c.1694T>A c.(1693-1695)gTa>gAa p.V565E LGG 7 158669356 158669359 + Frame_Shift_Del DEL AGAG AGAG - TCGA-DU-A7TA-01A-11D-A33T-08 TCGA-DU-A7TA-10A-01D-A33W-08 g.chr7:158669356_158669359delAGAG c.547_550delAGAG c.(547-552)agagaafs p.RE183fs LGG 7 158716267 158716267 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:158716267G>A c.2100G>A c.(2098-2100)acG>acA p.T700T LIHC 7 158672638 158672638 + Silent SNP A A G TCGA-CC-A5UD-01A-11D-A28X-10 TCGA-CC-A5UD-10A-01D-A28X-10 g.chr7:158672638A>G c.837A>G c.(835-837)aaA>aaG p.K279K LIHC 7 158705686 158705686 + Missense_Mutation SNP A A T TCGA-DD-AACD-01A-11D-A40R-10 TCGA-DD-AACD-10A-01D-A40U-10 g.chr7:158705686A>T c.1601A>T c.(1600-1602)cAg>cTg p.Q534L LIHC 7 158715203 158715203 + Missense_Mutation SNP C C A TCGA-ZS-A9CG-01A-11D-A36X-10 TCGA-ZS-A9CG-10A-01D-A370-10 g.chr7:158715203C>A c.2057C>A c.(2056-2058)cCt>cAt p.P686H LIHC 7 158718939 158718939 + Silent SNP G G T TCGA-DD-AAW2-01A-11D-A40P-10 TCGA-DD-AAW2-10A-01D-A40P-10 g.chr7:158718939G>T c.2319G>T c.(2317-2319)acG>acT p.T773T LIHC 7 158719144 158719144 + Missense_Mutation SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr7:158719144T>C c.2423T>C c.(2422-2424)cTc>cCc p.L808P LIHC 7 158734820 158734820 + Nonsense_Mutation SNP C C T TCGA-DD-AAE4-01A-11D-A40R-10 TCGA-DD-AAE4-10A-01D-A40U-10 g.chr7:158734820C>T c.2983C>T c.(2983-2985)Cag>Tag p.Q995* LUAD 7 158669353 158669353 + Missense_Mutation SNP G G A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr7:158669353G>A c.544G>A c.(544-546)Gat>Aat p.D182N LUAD 7 158672379 158672379 + Missense_Mutation SNP A A T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 g.chr7:158672379A>T c.578A>T c.(577-579)cAg>cTg p.Q193L LUAD 7 158672580 158672580 + Missense_Mutation SNP G G T TCGA-86-8279-01A-11D-2284-08 TCGA-86-8279-10A-01D-2284-08 g.chr7:158672580G>T c.779G>T c.(778-780)cGa>cTa p.R260L LUAD 7 158677276 158677276 + Missense_Mutation SNP G G T TCGA-17-Z028-01A-01W-0746-08 TCGA-17-Z028-11A-01W-0746-08 g.chr7:158677276G>T c.901G>T c.(901-903)Ggt>Tgt p.G301C LUAD 7 158683963 158683963 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr7:158683963A>G c.998A>G c.(997-999)cAc>cGc p.H333R LUAD 7 158695181 158695181 + Missense_Mutation SNP G G A TCGA-05-4250-01A-01D-1105-08 TCGA-05-4250-10A-01D-1105-08 g.chr7:158695181G>A c.1252G>A c.(1252-1254)Gaa>Aaa p.E418K LUAD 7 158715070 158715070 + Nonsense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr7:158715070C>T c.1924C>T c.(1924-1926)Cga>Tga p.R642* LUAD 7 158715089 158715089 + Missense_Mutation SNP A A C TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr7:158715089A>C c.1943A>C c.(1942-1944)cAc>cCc p.H648P LUAD 7 158715095 158715095 + Missense_Mutation SNP C C G TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr7:158715095C>G c.1949C>G c.(1948-1950)tCc>tGc p.S650C LUAD 7 158715218 158715218 + Missense_Mutation SNP A A C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 g.chr7:158715218A>C c.2072A>C c.(2071-2073)aAa>aCa p.K691T LUAD 7 158716322 158716322 + Missense_Mutation SNP G G C TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr7:158716322G>C c.2155G>C c.(2155-2157)Ggc>Cgc p.G719R LUAD 7 158716323 158716323 + Missense_Mutation SNP G G T TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr7:158716323G>T c.2156G>T c.(2155-2157)gGc>gTc p.G719V LUAD 7 158734681 158734681 + Missense_Mutation SNP G G T TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr7:158734681G>T c.2844G>T c.(2842-2844)tgG>tgT p.W948C LUSC 7 158663842 158663842 + Missense_Mutation SNP T T C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 g.chr7:158663842T>C c.79T>C c.(79-81)Tca>Cca p.S27P LUSC 7 158672642 158672642 + Missense_Mutation SNP A A G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr7:158672642A>G c.841A>G c.(841-843)Aaa>Gaa p.K281E LUSC 7 158677292 158677292 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr7:158677292G>A c.917G>A c.(916-918)aGa>aAa p.R306K LUSC 7 158704301 158704302 + Frame_Shift_Ins INS - - T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr7:158704301_158704302insT c.1521_1522insT c.(1522-1524)ttgfs p.L508fs LUSC 7 158705762 158705762 + Silent SNP G G T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 g.chr7:158705762G>T c.1677G>T c.(1675-1677)ccG>ccT p.P559P LUSC 7 158718960 158718960 + Silent SNP C C T TCGA-66-2768-01A-01D-1522-08 TCGA-66-2768-11A-01D-1522-08 g.chr7:158718960C>T c.2340C>T c.(2338-2340)agC>agT p.S780S LUSC 7 158719682 158719682 + Splice_Site SNP G G A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 g.chr7:158719682G>A c.e20-1 LUSC 7 158723180 158723180 + Silent SNP T T C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 g.chr7:158723180T>C c.2520T>C c.(2518-2520)caT>caC p.H840H LUSC 7 158738313 158738313 + Missense_Mutation SNP G G C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 g.chr7:158738313G>C c.3044G>C c.(3043-3045)gGt>gCt p.G1015A OV 7 158672600 158672600 + Missense_Mutation SNP T T G TCGA-13-0913-01A-01W-0420-08 TCGA-13-0913-10A-01D-0399-08 g.chr7:158672600T>G c.799T>G c.(799-801)Ttt>Gtt p.F267V OV 7 158704350 158704350 + Missense_Mutation SNP G G C TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 g.chr7:158704350G>C c.1570G>C c.(1570-1572)Ggg>Cgg p.G524R OV 7 158711561 158711561 + Splice_Site SNP G G T TCGA-29-1766-01A-01W-0633-09 TCGA-29-1766-10A-01W-0634-09 g.chr7:158711561G>T c.e15+1 PAAD 7 158672580 158672580 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 g.chr7:158672580G>A c.779G>A c.(778-780)cGa>cAa p.R260Q PAAD 7 158672615 158672615 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:158672615C>T c.814C>T c.(814-816)Cac>Tac p.H272Y PAAD 7 158677270 158677270 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:158677270A>C c.895A>C c.(895-897)Aat>Cat p.N299H PAAD 7 158716310 158716310 + Missense_Mutation SNP G G A TCGA-XD-AAUH-01A-42D-A40W-08 TCGA-XD-AAUH-11A-11D-A40W-08 g.chr7:158716310G>A c.2143G>A c.(2143-2145)Gga>Aga p.G715R PRAD 7 158716310 158716310 + Missense_Mutation SNP G G A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 g.chr7:158716310G>A c.2143G>A c.(2143-2145)Gga>Aga p.G715R READ 7 158672383 158672383 + Silent SNP C C T TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr7:158672383C>T c.582C>T c.(580-582)taC>taT p.Y194Y READ 7 158672483 158672483 + Silent SNP C C A TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr7:158672483C>A c.682C>A c.(682-684)Cga>Aga p.R228R SKCM 7 158663908 158663908 + Missense_Mutation SNP C C T TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr7:158663908C>T c.145C>T c.(145-147)Ctt>Ttt p.L49F SKCM 7 158663943 158663943 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-11A-11D-A23B-08 g.chr7:158663943C>T c.180C>T c.(178-180)ccC>ccT p.P60P SKCM 7 158672385 158672385 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 g.chr7:158672385G>A c.584G>A c.(583-585)gGa>gAa p.G195E SKCM 7 158695278 158695278 + Missense_Mutation SNP C C T TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr7:158695278C>T c.1349C>T c.(1348-1350)cCc>cTc p.P450L SKCM 7 158704297 158704297 + Missense_Mutation SNP C C T TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr7:158704297C>T c.1517C>T c.(1516-1518)tCt>tTt p.S506F SKCM 7 158704364 158704364 + Silent SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr7:158704364C>A c.1584C>A c.(1582-1584)acC>acA p.T528T SKCM 7 158715154 158715154 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 g.chr7:158715154C>T c.2008C>T c.(2008-2010)Ccc>Tcc p.P670S SKCM 7 158716371 158716371 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr7:158716371C>T c.2204C>T c.(2203-2205)tCt>tTt p.S735F SKCM 7 158718935 158718935 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr7:158718935C>T c.2315C>T c.(2314-2316)tCa>tTa p.S772L SKCM 7 158723148 158723148 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:158723148C>T c.2488C>T c.(2488-2490)Ctg>Ttg p.L830L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 7 158663899 158663899 single base substitution G A missense_variant E46K 136G>A BLCA-US 7 158663899 158663899 single base substitution G A missense_variant E56K 166G>A BLCA-US 7 158663923 158663923 single base substitution G A missense_variant E54K 160G>A BLCA-US 7 158663923 158663923 single base substitution G A missense_variant E64K 190G>A BLCA-US 7 158672547 158672547 single base substitution C T exon_variant BLCA-US 7 158672547 158672547 single base substitution C T missense_variant S249F 746C>T BLCA-US 7 158672547 158672547 single base substitution C T upstream_gene_variant BLCA-US 7 158704352 158704352 insertion of <=200bp - A exon_variant BLCA-US 7 158704352 158704352 insertion of <=200bp - A frameshift_variant G524G? BLCA-US 7 158718985 158718985 single base substitution C G exon_variant BLCA-US 7 158718985 158718985 single base substitution C G missense_variant Q789E 2365C>G BLCA-US 7 158723187 158723187 single base substitution C T 3_prime_UTR_variant BLCA-US 7 158723187 158723187 single base substitution C T exon_variant BLCA-US 7 158723187 158723187 single base substitution C T synonymous_variant L843L 2527C>T BLCA-US 7 158723187 158723187 single base substitution C T upstream_gene_variant BOCA-FR 7 158671696 158671696 single base substitution C T intron_variant BOCA-FR 7 158671696 158671696 single base substitution C T upstream_gene_variant BOCA-FR 7 158672725 158672725 single base substitution C T intron_variant BOCA-FR 7 158672725 158672725 single base substitution C T upstream_gene_variant BRCA-EU 7 158644605 158644605 single base substitution T G upstream_gene_variant BRCA-EU 7 158644769 158644769 single base substitution C G upstream_gene_variant BRCA-EU 7 158645290 158645290 single base substitution C T upstream_gene_variant BRCA-EU 7 158646724 158646724 single base substitution G A upstream_gene_variant BRCA-EU 7 158647046 158647046 single base substitution C T upstream_gene_variant BRCA-EU 7 158648537 158648537 single base substitution C A upstream_gene_variant BRCA-EU 7 158650592 158650592 single base substitution C G intron_variant BRCA-EU 7 158651089 158651089 single base substitution A C intron_variant BRCA-EU 7 158651456 158651456 single base substitution C G intron_variant BRCA-EU 7 158653394 158653394 single base substitution G T intron_variant BRCA-EU 7 158653499 158653499 single base substitution G C intron_variant BRCA-EU 7 158655491 158655491 single base substitution C T intron_variant BRCA-EU 7 158655857 158655857 single base substitution C T intron_variant BRCA-EU 7 158656813 158656813 single base substitution G T intron_variant BRCA-EU 7 158656890 158656890 single base substitution G A intron_variant BRCA-EU 7 158658272 158658272 single base substitution C G intron_variant BRCA-EU 7 158658272 158658272 single base substitution C G upstream_gene_variant BRCA-EU 7 158658478 158658478 single base substitution C G intron_variant BRCA-EU 7 158658478 158658478 single base substitution C G upstream_gene_variant BRCA-EU 7 158659019 158659022 multiple base substitution (>=2bp and <=200bp) TTTG TC intron_variant BRCA-EU 7 158659019 158659022 multiple base substitution (>=2bp and <=200bp) TTTG TC upstream_gene_variant BRCA-EU 7 158660056 158660056 single base substitution G T intron_variant BRCA-EU 7 158660056 158660056 single base substitution G T upstream_gene_variant BRCA-EU 7 158660766 158660766 single base substitution C T intron_variant BRCA-EU 7 158660766 158660766 single base substitution C T upstream_gene_variant BRCA-EU 7 158661055 158661055 single base substitution G A intron_variant BRCA-EU 7 158661055 158661055 single base substitution G A upstream_gene_variant BRCA-EU 7 158661771 158661771 single base substitution C T intron_variant BRCA-EU 7 158661771 158661771 single base substitution C T upstream_gene_variant BRCA-EU 7 158663814 158663814 single base substitution C G intron_variant BRCA-EU 7 158664615 158664615 single base substitution C T downstream_gene_variant BRCA-EU 7 158664615 158664615 single base substitution C T intron_variant BRCA-EU 7 158664666 158664667 deletion of <=200bp GT - downstream_gene_variant BRCA-EU 7 158664666 158664667 deletion of <=200bp GT - intron_variant BRCA-EU 7 158665052 158665052 single base substitution G A downstream_gene_variant BRCA-EU 7 158665052 158665052 single base substitution G A intron_variant BRCA-EU 7 158667382 158667382 single base substitution C T downstream_gene_variant BRCA-EU 7 158667382 158667382 single base substitution C T intron_variant BRCA-EU 7 158669389 158669389 single base substitution G A splice_region_variant BRCA-EU 7 158669389 158669389 single base substitution G A upstream_gene_variant BRCA-EU 7 158669875 158669875 single base substitution G A intron_variant BRCA-EU 7 158669875 158669875 single base substitution G A upstream_gene_variant BRCA-EU 7 158669919 158669919 single base substitution C T intron_variant BRCA-EU 7 158669919 158669919 single base substitution C T upstream_gene_variant BRCA-EU 7 158669985 158669985 single base substitution G A intron_variant BRCA-EU 7 158669985 158669985 single base substitution G A upstream_gene_variant BRCA-EU 7 158670715 158670715 single base substitution A G intron_variant BRCA-EU 7 158670715 158670715 single base substitution A G upstream_gene_variant BRCA-EU 7 158672506 158672506 single base substitution A T exon_variant BRCA-EU 7 158672506 158672506 single base substitution A T missense_variant E235D 705A>T BRCA-EU 7 158672506 158672506 single base substitution A T upstream_gene_variant BRCA-EU 7 158673252 158673252 single base substitution C G intron_variant BRCA-EU 7 158673252 158673252 single base substitution C G upstream_gene_variant BRCA-EU 7 158673865 158673865 single base substitution C T intron_variant BRCA-EU 7 158673865 158673865 single base substitution C T upstream_gene_variant BRCA-EU 7 158673898 158673898 single base substitution G A intron_variant BRCA-EU 7 158673898 158673898 single base substitution G A upstream_gene_variant BRCA-EU 7 158674294 158674294 single base substitution G A intron_variant BRCA-EU 7 158674294 158674294 single base substitution G A upstream_gene_variant BRCA-EU 7 158674971 158674971 deletion of <=200bp A - intron_variant BRCA-EU 7 158674971 158674971 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 158676044 158676044 single base substitution G A intron_variant BRCA-EU 7 158676044 158676044 single base substitution G A upstream_gene_variant BRCA-EU 7 158676129 158676129 single base substitution C T intron_variant BRCA-EU 7 158676129 158676129 single base substitution C T upstream_gene_variant BRCA-EU 7 158678287 158678287 single base substitution C T intron_variant BRCA-EU 7 158678348 158678348 single base substitution A C intron_variant BRCA-EU 7 158679418 158679418 single base substitution C T intron_variant BRCA-EU 7 158679731 158679731 single base substitution A T exon_variant BRCA-EU 7 158679731 158679731 single base substitution A T missense_variant R319W 955A>T BRCA-EU 7 158679751 158679751 single base substitution A G exon_variant BRCA-EU 7 158679751 158679751 single base substitution A G synonymous_variant K325K 975A>G BRCA-EU 7 158679846 158679846 single base substitution G A intron_variant BRCA-EU 7 158680214 158680214 single base substitution C A intron_variant BRCA-EU 7 158680865 158680865 single base substitution G A intron_variant BRCA-EU 7 158680877 158680877 single base substitution G A intron_variant BRCA-EU 7 158681236 158681236 single base substitution C G intron_variant BRCA-EU 7 158682137 158682137 deletion of <=200bp T - intron_variant BRCA-EU 7 158682375 158682375 single base substitution C G intron_variant BRCA-EU 7 158682619 158682619 single base substitution C T intron_variant BRCA-EU 7 158682832 158682832 single base substitution A T intron_variant BRCA-EU 7 158683290 158683290 single base substitution C G intron_variant BRCA-EU 7 158684506 158684506 single base substitution C G intron_variant BRCA-EU 7 158684790 158684790 single base substitution C G intron_variant BRCA-EU 7 158685654 158685654 single base substitution G A intron_variant BRCA-EU 7 158687010 158687010 single base substitution A G intron_variant BRCA-EU 7 158687057 158687057 single base substitution C T intron_variant BRCA-EU 7 158687815 158687815 single base substitution C G intron_variant BRCA-EU 7 158688011 158688011 single base substitution T C intron_variant BRCA-EU 7 158688311 158688311 single base substitution G C intron_variant BRCA-EU 7 158688555 158688555 single base substitution T C intron_variant BRCA-EU 7 158688914 158688914 insertion of <=200bp - T intron_variant BRCA-EU 7 158689368 158689368 single base substitution C T intron_variant BRCA-EU 7 158690282 158690282 single base substitution C T intron_variant BRCA-EU 7 158690555 158690555 single base substitution C G intron_variant BRCA-EU 7 158692179 158692179 deletion of <=200bp T - intron_variant BRCA-EU 7 158693161 158693161 single base substitution C G intron_variant BRCA-EU 7 158694289 158694289 single base substitution A C intron_variant BRCA-EU 7 158695882 158695882 single base substitution C T exon_variant BRCA-EU 7 158695882 158695882 single base substitution C T intron_variant BRCA-EU 7 158696201 158696201 single base substitution G A exon_variant BRCA-EU 7 158696201 158696201 single base substitution G A intron_variant BRCA-EU 7 158696383 158696383 single base substitution G A exon_variant BRCA-EU 7 158696383 158696383 single base substitution G A intron_variant BRCA-EU 7 158696830 158696830 single base substitution T C exon_variant BRCA-EU 7 158696830 158696830 single base substitution T C intron_variant BRCA-EU 7 158699011 158699011 single base substitution G A intron_variant BRCA-EU 7 158699012 158699012 single base substitution G T intron_variant BRCA-EU 7 158701718 158701718 single base substitution T C intron_variant BRCA-EU 7 158704352 158704352 single base substitution G A exon_variant BRCA-EU 7 158704352 158704352 single base substitution G A synonymous_variant G524G 1572G>A BRCA-EU 7 158704856 158704856 single base substitution A G intron_variant BRCA-EU 7 158705542 158705542 single base substitution G T intron_variant BRCA-EU 7 158706461 158706461 single base substitution A G intron_variant BRCA-EU 7 158706914 158706914 deletion of <=200bp T - intron_variant BRCA-EU 7 158707506 158707506 deletion of <=200bp C - intron_variant BRCA-EU 7 158707713 158707713 single base substitution T C intron_variant BRCA-EU 7 158708490 158708490 single base substitution C G intron_variant BRCA-EU 7 158708949 158708949 single base substitution G A intron_variant BRCA-EU 7 158710221 158710221 single base substitution A T intron_variant BRCA-EU 7 158710360 158710360 single base substitution C T intron_variant BRCA-EU 7 158711576 158711576 single base substitution C G intron_variant BRCA-EU 7 158715898 158715898 single base substitution A C intron_variant BRCA-EU 7 158717518 158717518 single base substitution T A intron_variant BRCA-EU 7 158717621 158717621 single base substitution A G intron_variant BRCA-EU 7 158717976 158717976 single base substitution C T intron_variant BRCA-EU 7 158718441 158718441 single base substitution C T intron_variant BRCA-EU 7 158720081 158720081 single base substitution G C intron_variant BRCA-EU 7 158721311 158721311 single base substitution C G intron_variant BRCA-EU 7 158721677 158721677 single base substitution A G intron_variant BRCA-EU 7 158721838 158721838 single base substitution G T intron_variant BRCA-EU 7 158721848 158721848 single base substitution A G intron_variant BRCA-EU 7 158721998 158721998 deletion of <=200bp C - intron_variant BRCA-EU 7 158721998 158721998 deletion of <=200bp C - upstream_gene_variant BRCA-EU 7 158725558 158725558 single base substitution G T intron_variant BRCA-EU 7 158725558 158725558 single base substitution G T upstream_gene_variant BRCA-EU 7 158726529 158726529 single base substitution G C intron_variant BRCA-EU 7 158726529 158726529 single base substitution G C upstream_gene_variant BRCA-EU 7 158726564 158726564 single base substitution T A intron_variant BRCA-EU 7 158726564 158726564 single base substitution T A upstream_gene_variant BRCA-EU 7 158726960 158726960 single base substitution T G intron_variant BRCA-EU 7 158728989 158728989 single base substitution A G intron_variant BRCA-EU 7 158730437 158730437 deletion of <=200bp A - intron_variant BRCA-EU 7 158731026 158731026 single base substitution G A intron_variant BRCA-EU 7 158731785 158731785 single base substitution T C intron_variant BRCA-EU 7 158734469 158734469 single base substitution C T intron_variant BRCA-EU 7 158734602 158734602 single base substitution C G intron_variant BRCA-EU 7 158734781 158734781 single base substitution T C 3_prime_UTR_variant BRCA-EU 7 158734781 158734781 single base substitution T C exon_variant BRCA-EU 7 158734781 158734781 single base substitution T C missense_variant W982R 2944T>C BRCA-EU 7 158735065 158735065 single base substitution T C intron_variant BRCA-EU 7 158736701 158736701 single base substitution G C intron_variant BRCA-EU 7 158736881 158736881 single base substitution G A intron_variant BRCA-EU 7 158737808 158737808 single base substitution G A intron_variant BRCA-EU 7 158737952 158737952 single base substitution G A intron_variant BRCA-EU 7 158738398 158738398 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 158738398 158738398 single base substitution G A exon_variant BRCA-EU 7 158738398 158738398 single base substitution G A synonymous_variant E1043E 3129G>A BRCA-EU 7 158738404 158738404 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 158738404 158738404 single base substitution C G exon_variant BRCA-EU 7 158738404 158738404 single base substitution C G missense_variant D1045E 3135C>G BRCA-EU 7 158738717 158738717 single base substitution C A 3_prime_UTR_variant BRCA-EU 7 158738717 158738717 single base substitution C A exon_variant BRCA-EU 7 158738717 158738717 single base substitution C A intron_variant BRCA-EU 7 158739388 158739388 single base substitution A G downstream_gene_variant BRCA-EU 7 158739388 158739388 single base substitution A G intron_variant BRCA-EU 7 158740884 158740884 single base substitution G A downstream_gene_variant BRCA-EU 7 158740884 158740884 single base substitution G A intron_variant BRCA-EU 7 158742527 158742527 single base substitution A G downstream_gene_variant BRCA-EU 7 158742527 158742527 single base substitution A G intron_variant BRCA-EU 7 158744609 158744609 single base substitution C A intron_variant BRCA-EU 7 158744866 158744866 single base substitution C T intron_variant BRCA-EU 7 158746324 158746324 single base substitution C G intron_variant BRCA-EU 7 158746410 158746411 deletion of <=200bp TA - intron_variant BRCA-EU 7 158746724 158746724 single base substitution G A intron_variant BRCA-EU 7 158747340 158747340 deletion of <=200bp A - intron_variant BRCA-EU 7 158749466 158749466 single base substitution G T downstream_gene_variant BRCA-EU 7 158752498 158752498 single base substitution G C downstream_gene_variant BRCA-EU 7 158753184 158753184 single base substitution T C downstream_gene_variant BRCA-EU 7 158753218 158753218 single base substitution C G downstream_gene_variant BRCA-EU 7 158753742 158753742 single base substitution C T downstream_gene_variant BRCA-EU 7 158753753 158753753 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 158754201 158754201 single base substitution G C downstream_gene_variant BRCA-FR 7 158650592 158650592 single base substitution C G intron_variant BRCA-FR 7 158673865 158673865 single base substitution C T intron_variant BRCA-FR 7 158673865 158673865 single base substitution C T upstream_gene_variant BRCA-FR 7 158679751 158679751 single base substitution A G exon_variant BRCA-FR 7 158679751 158679751 single base substitution A G synonymous_variant K325K 975A>G BRCA-FR 7 158681236 158681236 single base substitution C G intron_variant BRCA-FR 7 158682375 158682375 single base substitution C G intron_variant BRCA-FR 7 158683866 158683866 single base substitution C T intron_variant BRCA-FR 7 158690555 158690555 single base substitution C G intron_variant BRCA-FR 7 158696383 158696383 single base substitution G A exon_variant BRCA-FR 7 158696383 158696383 single base substitution G A intron_variant BRCA-FR 7 158710507 158710507 single base substitution C G intron_variant BRCA-FR 7 158717518 158717518 single base substitution T A intron_variant BRCA-FR 7 158731026 158731026 single base substitution G A intron_variant BRCA-FR 7 158744609 158744609 single base substitution C A intron_variant BRCA-FR 7 158746324 158746324 single base substitution C G intron_variant BRCA-FR 7 158753068 158753068 single base substitution C T downstream_gene_variant BRCA-FR 7 158753742 158753742 single base substitution C T downstream_gene_variant BRCA-UK 7 158665669 158665669 single base substitution G A downstream_gene_variant BRCA-UK 7 158665669 158665669 single base substitution G A intron_variant BRCA-UK 7 158680427 158680427 single base substitution C T intron_variant BRCA-UK 7 158684790 158684790 single base substitution C G intron_variant BRCA-UK 7 158699240 158699240 single base substitution C G intron_variant BRCA-UK 7 158704295 158704295 single base substitution C G exon_variant BRCA-UK 7 158704295 158704295 single base substitution C G missense_variant F505L 1515C>G BRCA-UK 7 158708470 158708470 single base substitution T C intron_variant BRCA-UK 7 158708508 158708508 single base substitution T C intron_variant BRCA-UK 7 158708544 158708544 single base substitution A G intron_variant BRCA-UK 7 158716328 158716328 single base substitution G A exon_variant BRCA-UK 7 158716328 158716328 single base substitution G A missense_variant V721I 2161G>A BRCA-UK 7 158727114 158727114 single base substitution C T 3_prime_UTR_variant BRCA-UK 7 158727114 158727114 single base substitution C T exon_variant BRCA-UK 7 158727114 158727114 single base substitution C T synonymous_variant L884L 2652C>T BRCA-UK 7 158729534 158729534 single base substitution C G intron_variant BRCA-US 7 158672483 158672483 single base substitution C T exon_variant BRCA-US 7 158672483 158672483 single base substitution C T stop_gained R228* 682C>T BRCA-US 7 158672483 158672483 single base substitution C T upstream_gene_variant BRCA-US 7 158672659 158672659 single base substitution G A exon_variant BRCA-US 7 158672659 158672659 single base substitution G A synonymous_variant E286E 858G>A BRCA-US 7 158672659 158672659 single base substitution G A upstream_gene_variant BRCA-US 7 158715127 158715127 single base substitution C A exon_variant BRCA-US 7 158715127 158715127 single base substitution C A intron_variant BRCA-US 7 158715127 158715127 single base substitution C A missense_variant H661N 1981C>A BRCA-US 7 158716295 158716295 single base substitution T C exon_variant BRCA-US 7 158716295 158716295 single base substitution T C missense_variant F710L 2128T>C BRCA-US 7 158719112 158719112 single base substitution C T exon_variant BRCA-US 7 158719112 158719112 single base substitution C T synonymous_variant F797F 2391C>T BRCA-US 7 158723189 158723189 single base substitution G C 3_prime_UTR_variant BRCA-US 7 158723189 158723189 single base substitution G C exon_variant BRCA-US 7 158723189 158723189 single base substitution G C synonymous_variant L843L 2529G>C BRCA-US 7 158723189 158723189 single base substitution G C upstream_gene_variant BRCA-US 7 158734770 158734770 single base substitution A G 3_prime_UTR_variant BRCA-US 7 158734770 158734770 single base substitution A G exon_variant BRCA-US 7 158734770 158734770 single base substitution A G missense_variant N978S 2933A>G BTCA-JP 7 158649308 158649308 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 7 158662550 158662550 single base substitution G T missense_variant R17I 50G>T BTCA-JP 7 158662550 158662550 single base substitution G T missense_variant R7I 20G>T BTCA-JP 7 158662746 158662746 single base substitution G A intron_variant BTCA-JP 7 158697831 158697831 single base substitution C T exon_variant BTCA-JP 7 158697831 158697831 single base substitution C T intron_variant BTCA-JP 7 158704366 158704366 single base substitution A G exon_variant BTCA-JP 7 158704366 158704366 single base substitution A G missense_variant K529R 1586A>G BTCA-JP 7 158704386 158704386 single base substitution G T intron_variant BTCA-JP 7 158711365 158711365 deletion of <=200bp T - intron_variant BTCA-JP 7 158714981 158714981 insertion of <=200bp - T intron_variant BTCA-JP 7 158723014 158723014 single base substitution T C intron_variant BTCA-JP 7 158723014 158723014 single base substitution T C upstream_gene_variant CESC-US 7 158662589 158662589 single base substitution A C missense_variant K20T 59A>C CESC-US 7 158662589 158662589 single base substitution A C missense_variant K30T 89A>C CESC-US 7 158664075 158664077 deletion of <=200bp GAA - inframe_deletion LK104L CESC-US 7 158664075 158664077 deletion of <=200bp GAA - inframe_deletion LK114L CESC-US 7 158715181 158715181 single base substitution T C exon_variant CESC-US 7 158715181 158715181 single base substitution T C intron_variant CESC-US 7 158715181 158715181 single base substitution T C missense_variant C679R 2035T>C CESC-US 7 158723168 158723168 single base substitution C G 3_prime_UTR_variant CESC-US 7 158723168 158723168 single base substitution C G exon_variant CESC-US 7 158723168 158723168 single base substitution C G synonymous_variant V836V 2508C>G CESC-US 7 158723168 158723168 single base substitution C G upstream_gene_variant CLLE-ES 7 158645595 158645595 single base substitution C T upstream_gene_variant CLLE-ES 7 158658520 158658520 single base substitution A G intron_variant CLLE-ES 7 158658520 158658520 single base substitution A G upstream_gene_variant CLLE-ES 7 158674947 158674947 single base substitution G A intron_variant CLLE-ES 7 158674947 158674947 single base substitution G A upstream_gene_variant CLLE-ES 7 158685764 158685764 single base substitution C T intron_variant CLLE-ES 7 158691010 158691010 single base substitution T G intron_variant CLLE-ES 7 158709779 158709779 single base substitution C T intron_variant CLLE-ES 7 158739371 158739371 single base substitution A G downstream_gene_variant CLLE-ES 7 158739371 158739371 single base substitution A G intron_variant CLLE-ES 7 158744054 158744054 single base substitution C T intron_variant CLLE-ES 7 158745470 158745470 single base substitution G A intron_variant COAD-US 7 158664012 158664012 single base substitution G A synonymous_variant E83E 249G>A COAD-US 7 158664012 158664012 single base substitution G A synonymous_variant E93E 279G>A COAD-US 7 158672579 158672579 single base substitution C T exon_variant COAD-US 7 158672579 158672579 single base substitution C T stop_gained R260* 778C>T COAD-US 7 158672579 158672579 single base substitution C T upstream_gene_variant COAD-US 7 158695163 158695163 insertion of <=200bp - AA exon_variant COAD-US 7 158695163 158695163 insertion of <=200bp - AA frameshift_variant Q412N? COAD-US 7 158704353 158704353 deletion of <=200bp A - exon_variant COAD-US 7 158704353 158704353 deletion of <=200bp A - frameshift_variant K525 COAD-US 7 158716288 158716288 single base substitution G T exon_variant COAD-US 7 158716288 158716288 single base substitution G T missense_variant L707F 2121G>T COAD-US 7 158716409 158716409 single base substitution G A exon_variant COAD-US 7 158716409 158716409 single base substitution G A missense_variant A748T 2242G>A COAD-US 7 158719119 158719119 single base substitution G A exon_variant COAD-US 7 158719119 158719119 single base substitution G A missense_variant A800T 2398G>A COAD-US 7 158727181 158727181 single base substitution A C 3_prime_UTR_variant COAD-US 7 158727181 158727181 single base substitution A C exon_variant COAD-US 7 158727181 158727181 single base substitution A C missense_variant I907L 2719A>C COAD-US 7 158734753 158734753 single base substitution G T 3_prime_UTR_variant COAD-US 7 158734753 158734753 single base substitution G T exon_variant COAD-US 7 158734753 158734753 single base substitution G T synonymous_variant V972V 2916G>T COCA-CN 7 158656809 158656809 single base substitution T A intron_variant COCA-CN 7 158656825 158656825 single base substitution G A intron_variant COCA-CN 7 158660424 158660424 single base substitution C T intron_variant COCA-CN 7 158660424 158660424 single base substitution C T upstream_gene_variant COCA-CN 7 158662281 158662281 single base substitution A C intron_variant COCA-CN 7 158663637 158663637 single base substitution C A intron_variant COCA-CN 7 158670721 158670721 single base substitution A G intron_variant COCA-CN 7 158670721 158670721 single base substitution A G upstream_gene_variant COCA-CN 7 158671532 158671532 single base substitution C T intron_variant COCA-CN 7 158671532 158671532 single base substitution C T upstream_gene_variant COCA-CN 7 158672469 158672469 single base substitution G A missense_variant R223Q 668G>A COCA-CN 7 158672469 158672469 single base substitution G A upstream_gene_variant COCA-CN 7 158679761 158679761 single base substitution C T exon_variant COCA-CN 7 158679761 158679761 single base substitution C T missense_variant R329W 985C>T COCA-CN 7 158680178 158680178 single base substitution T C intron_variant COCA-CN 7 158684147 158684147 single base substitution T C intron_variant COCA-CN 7 158686815 158686815 single base substitution C T intron_variant COCA-CN 7 158686827 158686827 single base substitution C T intron_variant COCA-CN 7 158686835 158686835 single base substitution C A intron_variant COCA-CN 7 158692098 158692098 single base substitution C T intron_variant COCA-CN 7 158692824 158692824 single base substitution C T intron_variant COCA-CN 7 158694393 158694393 single base substitution T A intron_variant COCA-CN 7 158696486 158696486 single base substitution A G exon_variant COCA-CN 7 158696486 158696486 single base substitution A G intron_variant COCA-CN 7 158703034 158703034 single base substitution T C intron_variant COCA-CN 7 158703107 158703107 single base substitution G A intron_variant COCA-CN 7 158705632 158705632 single base substitution G A intron_variant COCA-CN 7 158705762 158705762 single base substitution G A exon_variant COCA-CN 7 158705762 158705762 single base substitution G A synonymous_variant P559P 1677G>A COCA-CN 7 158707807 158707807 single base substitution A G intron_variant COCA-CN 7 158707913 158707913 single base substitution C T intron_variant COCA-CN 7 158707922 158707922 single base substitution A G intron_variant COCA-CN 7 158707960 158707960 single base substitution C G intron_variant COCA-CN 7 158707977 158707977 single base substitution G C intron_variant COCA-CN 7 158708001 158708001 single base substitution G A intron_variant COCA-CN 7 158708074 158708074 single base substitution G C intron_variant COCA-CN 7 158708121 158708121 single base substitution C G intron_variant COCA-CN 7 158708129 158708129 single base substitution G C intron_variant COCA-CN 7 158708150 158708150 single base substitution G A intron_variant COCA-CN 7 158708150 158708150 single base substitution G C intron_variant COCA-CN 7 158708191 158708191 single base substitution G A intron_variant COCA-CN 7 158708240 158708240 single base substitution T G intron_variant COCA-CN 7 158708266 158708266 single base substitution C T intron_variant COCA-CN 7 158708353 158708353 single base substitution C G intron_variant COCA-CN 7 158708374 158708374 single base substitution G C intron_variant COCA-CN 7 158708450 158708450 single base substitution G C intron_variant COCA-CN 7 158708453 158708453 single base substitution T G intron_variant COCA-CN 7 158708467 158708467 single base substitution G C intron_variant COCA-CN 7 158708497 158708497 single base substitution C G intron_variant COCA-CN 7 158708526 158708526 single base substitution G C intron_variant COCA-CN 7 158708564 158708564 single base substitution G C intron_variant COCA-CN 7 158708581 158708581 single base substitution G C intron_variant COCA-CN 7 158708602 158708602 single base substitution G C intron_variant COCA-CN 7 158708640 158708640 single base substitution G C intron_variant COCA-CN 7 158708836 158708836 single base substitution G C intron_variant COCA-CN 7 158708996 158708996 single base substitution G C intron_variant COCA-CN 7 158709017 158709017 single base substitution G A intron_variant COCA-CN 7 158709034 158709034 single base substitution C G intron_variant COCA-CN 7 158709093 158709093 single base substitution G C intron_variant COCA-CN 7 158709400 158709400 single base substitution T G intron_variant COCA-CN 7 158709437 158709437 single base substitution C A intron_variant COCA-CN 7 158709570 158709570 single base substitution T A intron_variant COCA-CN 7 158709628 158709628 single base substitution T G intron_variant COCA-CN 7 158709701 158709701 single base substitution G C intron_variant COCA-CN 7 158709703 158709703 single base substitution C T intron_variant COCA-CN 7 158709739 158709739 single base substitution G C intron_variant COCA-CN 7 158710209 158710209 single base substitution T C intron_variant COCA-CN 7 158710311 158710311 single base substitution T C intron_variant COCA-CN 7 158712870 158712870 single base substitution A G intron_variant COCA-CN 7 158713093 158713093 single base substitution C T intron_variant COCA-CN 7 158713140 158713140 single base substitution A G intron_variant COCA-CN 7 158713327 158713327 single base substitution G C intron_variant COCA-CN 7 158716266 158716266 single base substitution C T exon_variant COCA-CN 7 158716266 158716266 single base substitution C T missense_variant T700M 2099C>T COCA-CN 7 158718905 158718905 single base substitution G A exon_variant COCA-CN 7 158718905 158718905 single base substitution G A missense_variant R762Q 2285G>A COCA-CN 7 158720089 158720089 single base substitution G C intron_variant COCA-CN 7 158730447 158730447 single base substitution A T intron_variant COCA-CN 7 158743216 158743216 single base substitution C T downstream_gene_variant COCA-CN 7 158743216 158743216 single base substitution C T intron_variant COCA-CN 7 158745989 158745989 single base substitution T C intron_variant COCA-CN 7 158750852 158750852 single base substitution T A downstream_gene_variant COCA-CN 7 158752626 158752626 single base substitution C G downstream_gene_variant EOPC-DE 7 158650225 158650225 single base substitution G T intron_variant EOPC-DE 7 158671205 158671205 single base substitution T A intron_variant EOPC-DE 7 158671205 158671205 single base substitution T A upstream_gene_variant EOPC-DE 7 158671709 158671709 single base substitution T C intron_variant EOPC-DE 7 158671709 158671709 single base substitution T C upstream_gene_variant EOPC-DE 7 158671723 158671723 single base substitution A G intron_variant EOPC-DE 7 158671723 158671723 single base substitution A G upstream_gene_variant EOPC-DE 7 158713037 158713037 single base substitution A G intron_variant EOPC-DE 7 158713104 158713104 single base substitution C T intron_variant EOPC-DE 7 158713124 158713124 single base substitution T G intron_variant EOPC-DE 7 158713140 158713140 single base substitution A G intron_variant EOPC-DE 7 158745352 158745352 single base substitution C T intron_variant ESAD-UK 7 158645795 158645795 single base substitution C T upstream_gene_variant ESAD-UK 7 158646053 158646053 single base substitution C A upstream_gene_variant ESAD-UK 7 158650096 158650096 single base substitution C G intron_variant ESAD-UK 7 158658873 158658873 single base substitution C T intron_variant ESAD-UK 7 158658873 158658873 single base substitution C T upstream_gene_variant ESAD-UK 7 158659421 158659421 single base substitution C T intron_variant ESAD-UK 7 158659421 158659421 single base substitution C T upstream_gene_variant ESAD-UK 7 158659483 158659483 single base substitution C T intron_variant ESAD-UK 7 158659483 158659483 single base substitution C T upstream_gene_variant ESAD-UK 7 158661160 158661160 single base substitution T C intron_variant ESAD-UK 7 158661160 158661160 single base substitution T C upstream_gene_variant ESAD-UK 7 158661598 158661598 single base substitution C T intron_variant ESAD-UK 7 158661598 158661598 single base substitution C T upstream_gene_variant ESAD-UK 7 158661600 158661600 single base substitution G T intron_variant ESAD-UK 7 158661600 158661600 single base substitution G T upstream_gene_variant ESAD-UK 7 158661601 158661601 single base substitution G T intron_variant ESAD-UK 7 158661601 158661601 single base substitution G T upstream_gene_variant ESAD-UK 7 158668694 158668694 single base substitution T C downstream_gene_variant ESAD-UK 7 158668694 158668694 single base substitution T C intron_variant ESAD-UK 7 158668694 158668694 single base substitution T C upstream_gene_variant ESAD-UK 7 158668829 158668829 single base substitution G A downstream_gene_variant ESAD-UK 7 158668829 158668829 single base substitution G A intron_variant ESAD-UK 7 158668829 158668829 single base substitution G A upstream_gene_variant ESAD-UK 7 158671751 158671751 single base substitution C T intron_variant ESAD-UK 7 158671751 158671751 single base substitution C T upstream_gene_variant ESAD-UK 7 158671802 158671802 single base substitution G A intron_variant ESAD-UK 7 158671802 158671802 single base substitution G A upstream_gene_variant ESAD-UK 7 158671904 158671904 single base substitution C T intron_variant ESAD-UK 7 158671904 158671904 single base substitution C T upstream_gene_variant ESAD-UK 7 158672580 158672580 single base substitution G A exon_variant ESAD-UK 7 158672580 158672580 single base substitution G A missense_variant R260Q 779G>A ESAD-UK 7 158672580 158672580 single base substitution G A upstream_gene_variant ESAD-UK 7 158672808 158672808 single base substitution C T intron_variant ESAD-UK 7 158672808 158672808 single base substitution C T upstream_gene_variant ESAD-UK 7 158673332 158673332 single base substitution A G intron_variant ESAD-UK 7 158673332 158673332 single base substitution A G upstream_gene_variant ESAD-UK 7 158675114 158675114 single base substitution A T intron_variant ESAD-UK 7 158675114 158675114 single base substitution A T upstream_gene_variant ESAD-UK 7 158675900 158675900 single base substitution T C intron_variant ESAD-UK 7 158675900 158675900 single base substitution T C upstream_gene_variant ESAD-UK 7 158678972 158678972 single base substitution G A intron_variant ESAD-UK 7 158681160 158681161 deletion of <=200bp AT - intron_variant ESAD-UK 7 158681677 158681677 single base substitution T C intron_variant ESAD-UK 7 158682243 158682243 single base substitution C T intron_variant ESAD-UK 7 158685268 158685268 single base substitution G A intron_variant ESAD-UK 7 158686510 158686510 single base substitution C T intron_variant ESAD-UK 7 158687238 158687238 single base substitution G C intron_variant ESAD-UK 7 158687571 158687571 single base substitution G T intron_variant ESAD-UK 7 158691315 158691315 insertion of <=200bp - TGGATC intron_variant ESAD-UK 7 158692747 158692747 single base substitution T G intron_variant ESAD-UK 7 158694172 158694172 single base substitution T G intron_variant ESAD-UK 7 158697297 158697297 single base substitution C G exon_variant ESAD-UK 7 158697297 158697297 single base substitution C G intron_variant ESAD-UK 7 158698499 158698499 single base substitution A G intron_variant ESAD-UK 7 158706524 158706524 single base substitution C T intron_variant ESAD-UK 7 158707461 158707461 single base substitution A T intron_variant ESAD-UK 7 158712642 158712642 single base substitution C T intron_variant ESAD-UK 7 158712676 158712676 single base substitution C T intron_variant ESAD-UK 7 158713093 158713093 single base substitution C T intron_variant ESAD-UK 7 158713584 158713584 single base substitution C T intron_variant ESAD-UK 7 158715079 158715081 deletion of <=200bp TCC - exon_variant ESAD-UK 7 158715079 158715081 deletion of <=200bp TCC - inframe_deletion S645 ESAD-UK 7 158715079 158715081 deletion of <=200bp TCC - intron_variant ESAD-UK 7 158719689 158719689 single base substitution G C 3_prime_UTR_variant ESAD-UK 7 158719689 158719689 single base substitution G C exon_variant ESAD-UK 7 158719689 158719689 single base substitution G C missense_variant V814L 2440G>C ESAD-UK 7 158721817 158721817 single base substitution C T intron_variant ESAD-UK 7 158722252 158722252 single base substitution C T intron_variant ESAD-UK 7 158722252 158722252 single base substitution C T upstream_gene_variant ESAD-UK 7 158725514 158725514 deletion of <=200bp A - intron_variant ESAD-UK 7 158725514 158725514 deletion of <=200bp A - upstream_gene_variant ESAD-UK 7 158727878 158727878 single base substitution G T intron_variant ESAD-UK 7 158727900 158727900 single base substitution C T intron_variant ESAD-UK 7 158731962 158731962 single base substitution A C intron_variant ESAD-UK 7 158734459 158734459 single base substitution C T intron_variant ESAD-UK 7 158734886 158734886 single base substitution G A intron_variant ESAD-UK 7 158736399 158736399 single base substitution C T intron_variant ESAD-UK 7 158736510 158736510 single base substitution C T intron_variant ESAD-UK 7 158737141 158737141 single base substitution G A intron_variant ESAD-UK 7 158738303 158738303 single base substitution G A 3_prime_UTR_variant ESAD-UK 7 158738303 158738303 single base substitution G A exon_variant ESAD-UK 7 158738303 158738303 single base substitution G A missense_variant E1012K 3034G>A ESAD-UK 7 158741405 158741405 single base substitution A C downstream_gene_variant ESAD-UK 7 158741405 158741405 single base substitution A C intron_variant ESAD-UK 7 158744853 158744853 single base substitution C A intron_variant ESAD-UK 7 158746666 158746666 single base substitution C T intron_variant ESAD-UK 7 158747340 158747340 deletion of <=200bp A - intron_variant ESAD-UK 7 158748541 158748541 single base substitution A T intron_variant ESAD-UK 7 158749044 158749044 single base substitution A C intron_variant ESAD-UK 7 158749385 158749385 single base substitution G A 3_prime_UTR_variant ESAD-UK 7 158750371 158750371 single base substitution C T downstream_gene_variant ESAD-UK 7 158750852 158750852 single base substitution T A downstream_gene_variant ESAD-UK 7 158752801 158752801 single base substitution G A downstream_gene_variant ESAD-UK 7 158753563 158753563 single base substitution T C downstream_gene_variant ESCA-CN 7 158704263 158704263 single base substitution C T exon_variant ESCA-CN 7 158704263 158704263 single base substitution C T missense_variant R495W 1483C>T ESCA-CN 7 158719101 158719101 single base substitution G A exon_variant ESCA-CN 7 158719101 158719101 single base substitution G A missense_variant G794S 2380G>A LAML-KR 7 158671027 158671027 single base substitution C T intron_variant LAML-KR 7 158671027 158671027 single base substitution C T upstream_gene_variant LAML-KR 7 158671140 158671140 single base substitution T A intron_variant LAML-KR 7 158671140 158671140 single base substitution T A upstream_gene_variant LAML-KR 7 158671157 158671157 single base substitution A T intron_variant LAML-KR 7 158671157 158671157 single base substitution A T upstream_gene_variant LAML-KR 7 158671339 158671339 single base substitution C G intron_variant LAML-KR 7 158671339 158671339 single base substitution C G upstream_gene_variant LAML-KR 7 158671709 158671709 single base substitution T C intron_variant LAML-KR 7 158671709 158671709 single base substitution T C upstream_gene_variant LAML-KR 7 158676754 158676754 single base substitution G T intron_variant LAML-KR 7 158676754 158676754 single base substitution G T upstream_gene_variant LAML-KR 7 158686803 158686803 single base substitution T C intron_variant LAML-KR 7 158709152 158709152 single base substitution T A intron_variant LAML-KR 7 158709476 158709476 single base substitution G T intron_variant LAML-KR 7 158710064 158710064 single base substitution T C intron_variant LAML-KR 7 158710400 158710400 single base substitution C T intron_variant LAML-KR 7 158712737 158712737 single base substitution A G intron_variant LAML-KR 7 158718768 158718768 single base substitution A G intron_variant LAML-KR 7 158726655 158726655 single base substitution G A intron_variant LAML-KR 7 158726655 158726655 single base substitution G A upstream_gene_variant LAML-KR 7 158743582 158743582 single base substitution C T downstream_gene_variant LAML-KR 7 158743582 158743582 single base substitution C T intron_variant LAML-KR 7 158745944 158745944 single base substitution T A intron_variant LAML-KR 7 158745956 158745956 single base substitution T G intron_variant LAML-KR 7 158750834 158750834 single base substitution C T downstream_gene_variant LAML-KR 7 158750852 158750852 single base substitution T A downstream_gene_variant LICA-FR 7 158663857 158663857 single base substitution G C missense_variant E32Q 94G>C LICA-FR 7 158663857 158663857 single base substitution G C missense_variant E42Q 124G>C LICA-FR 7 158664190 158664190 single base substitution C T synonymous_variant ?153 LICA-FR 7 158664190 158664190 single base substitution C T synonymous_variant L143L 427C>T LICA-FR 7 158671723 158671723 single base substitution A G intron_variant LICA-FR 7 158671723 158671723 single base substitution A G upstream_gene_variant LICA-FR 7 158673427 158673427 single base substitution C G intron_variant LICA-FR 7 158673427 158673427 single base substitution C G upstream_gene_variant LICA-FR 7 158679710 158679710 single base substitution A T splice_acceptor_variant LICA-FR 7 158681348 158681348 single base substitution A G intron_variant LICA-FR 7 158693423 158693423 insertion of <=200bp - T intron_variant LICA-FR 7 158694496 158694496 single base substitution G A exon_variant LICA-FR 7 158694496 158694496 single base substitution G A missense_variant D376N 1126G>A LICA-FR 7 158697832 158697832 deletion of <=200bp T - exon_variant LICA-FR 7 158697832 158697832 deletion of <=200bp T - intron_variant LICA-FR 7 158699858 158699858 single base substitution A G intron_variant LICA-FR 7 158700678 158700678 single base substitution A G intron_variant LICA-FR 7 158701266 158701266 single base substitution A G intron_variant LICA-FR 7 158707998 158707998 single base substitution C A intron_variant LICA-FR 7 158708153 158708153 single base substitution G T intron_variant LICA-FR 7 158708345 158708345 single base substitution G C intron_variant LICA-FR 7 158708374 158708374 single base substitution G C intron_variant LICA-FR 7 158708488 158708488 single base substitution G C intron_variant LICA-FR 7 158708619 158708619 single base substitution C G intron_variant LICA-FR 7 158708685 158708685 single base substitution C T intron_variant LICA-FR 7 158708941 158708941 single base substitution G C intron_variant LICA-FR 7 158708962 158708962 single base substitution T A intron_variant LICA-FR 7 158709017 158709017 single base substitution G A intron_variant LICA-FR 7 158709020 158709020 single base substitution T G intron_variant LICA-FR 7 158709245 158709245 single base substitution G A intron_variant LICA-FR 7 158709247 158709247 single base substitution C T intron_variant LICA-FR 7 158709681 158709681 single base substitution A G intron_variant LICA-FR 7 158709779 158709779 single base substitution C T intron_variant LICA-FR 7 158709815 158709815 single base substitution C G intron_variant LICA-FR 7 158710148 158710148 single base substitution T C intron_variant LICA-FR 7 158711321 158711321 single base substitution G A intron_variant LICA-FR 7 158716388 158716388 single base substitution G A exon_variant LICA-FR 7 158716388 158716388 single base substitution G A missense_variant G741S 2221G>A LICA-FR 7 158718881 158718881 single base substitution G T exon_variant LICA-FR 7 158718881 158718881 single base substitution G T missense_variant G754V 2261G>T LICA-FR 7 158719687 158719687 single base substitution T C 3_prime_UTR_variant LICA-FR 7 158719687 158719687 single base substitution T C exon_variant LICA-FR 7 158719687 158719687 single base substitution T C missense_variant V813A 2438T>C LICA-FR 7 158721425 158721425 single base substitution A G intron_variant LICA-FR 7 158726129 158726129 single base substitution G T intron_variant LICA-FR 7 158726129 158726129 single base substitution G T upstream_gene_variant LICA-FR 7 158734242 158734242 single base substitution A G intron_variant LICA-FR 7 158743277 158743277 single base substitution C T downstream_gene_variant LICA-FR 7 158743277 158743277 single base substitution C T intron_variant LICA-FR 7 158748643 158748643 single base substitution C T intron_variant LICA-FR 7 158750388 158750388 single base substitution G T downstream_gene_variant LIHC-US 7 158734669 158734669 single base substitution G C 3_prime_UTR_variant LIHC-US 7 158734669 158734669 single base substitution G C exon_variant LIHC-US 7 158734669 158734669 single base substitution G C synonymous_variant P944P 2832G>C LINC-JP 7 158662133 158662133 single base substitution C T intron_variant LINC-JP 7 158662133 158662133 single base substitution C T upstream_gene_variant LINC-JP 7 158662512 158662512 insertion of <=200bp - TTTAAAC intron_variant LINC-JP 7 158662519 158662519 single base substitution A T intron_variant LINC-JP 7 158663883 158663883 single base substitution G T missense_variant K40N 120G>T LINC-JP 7 158663883 158663883 single base substitution G T missense_variant K50N 150G>T LINC-JP 7 158669408 158669408 single base substitution A G intron_variant LINC-JP 7 158669408 158669408 single base substitution A G upstream_gene_variant LINC-JP 7 158674971 158674971 deletion of <=200bp A - intron_variant LINC-JP 7 158674971 158674971 deletion of <=200bp A - upstream_gene_variant LINC-JP 7 158677259 158677259 single base substitution G T exon_variant LINC-JP 7 158677259 158677259 single base substitution G T missense_variant G295V 884G>T LINC-JP 7 158677259 158677259 single base substitution G T upstream_gene_variant LINC-JP 7 158695307 158695307 single base substitution A G exon_variant LINC-JP 7 158695307 158695307 single base substitution A G intron_variant LINC-JP 7 158711365 158711365 insertion of <=200bp - T intron_variant LINC-JP 7 158714883 158714883 single base substitution A G intron_variant LINC-JP 7 158719698 158719698 single base substitution C T 3_prime_UTR_variant LINC-JP 7 158719698 158719698 single base substitution C T exon_variant LINC-JP 7 158719698 158719698 single base substitution C T missense_variant P817S 2449C>T LINC-JP 7 158724132 158724132 single base substitution A G intron_variant LINC-JP 7 158724132 158724132 single base substitution A G upstream_gene_variant LINC-JP 7 158727454 158727454 single base substitution A G intron_variant LINC-JP 7 158746403 158746403 single base substitution G A intron_variant LIRI-JP 7 158645480 158645480 deletion of <=200bp A - upstream_gene_variant LIRI-JP 7 158649819 158649819 single base substitution A G intron_variant LIRI-JP 7 158651282 158651282 single base substitution A G intron_variant LIRI-JP 7 158652171 158652171 single base substitution T C intron_variant LIRI-JP 7 158652539 158652539 single base substitution C G intron_variant LIRI-JP 7 158653280 158653280 single base substitution A G intron_variant LIRI-JP 7 158659979 158659979 single base substitution C G intron_variant LIRI-JP 7 158659979 158659979 single base substitution C G upstream_gene_variant LIRI-JP 7 158660463 158660463 single base substitution C A intron_variant LIRI-JP 7 158660463 158660463 single base substitution C A upstream_gene_variant LIRI-JP 7 158661089 158661089 single base substitution G A intron_variant LIRI-JP 7 158661089 158661089 single base substitution G A upstream_gene_variant LIRI-JP 7 158664188 158664188 single base substitution A G missense_variant N142S 425A>G LIRI-JP 7 158664188 158664188 single base substitution A G missense_variant N152S 455A>G LIRI-JP 7 158665913 158665913 insertion of <=200bp - TA downstream_gene_variant LIRI-JP 7 158665913 158665913 insertion of <=200bp - TA intron_variant LIRI-JP 7 158666310 158666310 single base substitution G T downstream_gene_variant LIRI-JP 7 158666310 158666310 single base substitution G T intron_variant LIRI-JP 7 158671981 158671981 single base substitution A G intron_variant LIRI-JP 7 158671981 158671981 single base substitution A G upstream_gene_variant LIRI-JP 7 158674117 158674117 single base substitution A G intron_variant LIRI-JP 7 158674117 158674117 single base substitution A G upstream_gene_variant LIRI-JP 7 158677660 158677660 single base substitution G A intron_variant LIRI-JP 7 158679762 158679762 single base substitution G A exon_variant LIRI-JP 7 158679762 158679762 single base substitution G A missense_variant R329Q 986G>A LIRI-JP 7 158684614 158684614 single base substitution G A intron_variant LIRI-JP 7 158694365 158694365 single base substitution A T intron_variant LIRI-JP 7 158694696 158694696 single base substitution A G intron_variant LIRI-JP 7 158696124 158696124 single base substitution A G exon_variant LIRI-JP 7 158696124 158696124 single base substitution A G intron_variant LIRI-JP 7 158696476 158696476 single base substitution C T exon_variant LIRI-JP 7 158696476 158696476 single base substitution C T intron_variant LIRI-JP 7 158696494 158696494 single base substitution C A exon_variant LIRI-JP 7 158696494 158696494 single base substitution C A intron_variant LIRI-JP 7 158698803 158698803 single base substitution G A intron_variant LIRI-JP 7 158701053 158701053 single base substitution A T intron_variant LIRI-JP 7 158704192 158704192 single base substitution C T intron_variant LIRI-JP 7 158704353 158704353 deletion of <=200bp A - exon_variant LIRI-JP 7 158704353 158704353 deletion of <=200bp A - frameshift_variant K525 LIRI-JP 7 158704868 158704868 single base substitution T G intron_variant LIRI-JP 7 158705278 158705278 single base substitution G T intron_variant LIRI-JP 7 158705870 158705870 single base substitution C T intron_variant LIRI-JP 7 158707081 158707081 single base substitution A T intron_variant LIRI-JP 7 158710750 158710750 single base substitution G A intron_variant LIRI-JP 7 158710802 158710802 single base substitution T A intron_variant LIRI-JP 7 158711221 158711221 single base substitution A G intron_variant LIRI-JP 7 158711980 158711980 single base substitution A T intron_variant LIRI-JP 7 158715895 158715895 single base substitution G C intron_variant LIRI-JP 7 158715898 158715898 single base substitution A G intron_variant LIRI-JP 7 158716576 158716576 single base substitution A G intron_variant LIRI-JP 7 158716734 158716734 single base substitution A G intron_variant LIRI-JP 7 158716812 158716812 single base substitution C T intron_variant LIRI-JP 7 158716953 158716953 single base substitution T A intron_variant LIRI-JP 7 158717309 158717309 single base substitution A G intron_variant LIRI-JP 7 158717788 158717788 single base substitution A G intron_variant LIRI-JP 7 158719512 158719512 single base substitution G T intron_variant LIRI-JP 7 158719713 158719713 single base substitution G T 3_prime_UTR_variant LIRI-JP 7 158719713 158719713 single base substitution G T exon_variant LIRI-JP 7 158719713 158719713 single base substitution G T missense_variant A822S 2464G>T LIRI-JP 7 158724403 158724403 single base substitution C T intron_variant LIRI-JP 7 158724403 158724403 single base substitution C T upstream_gene_variant LIRI-JP 7 158724483 158724483 single base substitution G T intron_variant LIRI-JP 7 158724483 158724483 single base substitution G T upstream_gene_variant LIRI-JP 7 158725842 158725842 single base substitution A T intron_variant LIRI-JP 7 158725842 158725842 single base substitution A T upstream_gene_variant LIRI-JP 7 158727694 158727694 single base substitution T C intron_variant LIRI-JP 7 158735226 158735226 single base substitution A T intron_variant LIRI-JP 7 158735306 158735306 single base substitution G A intron_variant LIRI-JP 7 158738587 158738587 single base substitution A G 3_prime_UTR_variant LIRI-JP 7 158738587 158738587 single base substitution A G exon_variant LIRI-JP 7 158738587 158738587 single base substitution A G intron_variant LIRI-JP 7 158738638 158738638 single base substitution A G 3_prime_UTR_variant LIRI-JP 7 158738638 158738638 single base substitution A G exon_variant LIRI-JP 7 158738638 158738638 single base substitution A G intron_variant LIRI-JP 7 158738812 158738812 single base substitution A G 3_prime_UTR_variant LIRI-JP 7 158738812 158738812 single base substitution A G exon_variant LIRI-JP 7 158738812 158738812 single base substitution A G intron_variant LIRI-JP 7 158740182 158740182 single base substitution C T downstream_gene_variant LIRI-JP 7 158740182 158740182 single base substitution C T intron_variant LIRI-JP 7 158740919 158740919 single base substitution T A downstream_gene_variant LIRI-JP 7 158740919 158740919 single base substitution T A intron_variant LIRI-JP 7 158741293 158741293 single base substitution G T downstream_gene_variant LIRI-JP 7 158741293 158741293 single base substitution G T intron_variant LIRI-JP 7 158741326 158741327 deletion of <=200bp AT - downstream_gene_variant LIRI-JP 7 158741326 158741327 deletion of <=200bp AT - intron_variant LIRI-JP 7 158741457 158741457 single base substitution G T downstream_gene_variant LIRI-JP 7 158741457 158741457 single base substitution G T intron_variant LIRI-JP 7 158744761 158744761 single base substitution C T intron_variant LIRI-JP 7 158745223 158745223 single base substitution C T intron_variant LIRI-JP 7 158746155 158746155 single base substitution A T intron_variant LIRI-JP 7 158746608 158746608 insertion of <=200bp - T intron_variant LIRI-JP 7 158748716 158748716 single base substitution C G intron_variant LIRI-JP 7 158750983 158750983 single base substitution G T downstream_gene_variant LIRI-JP 7 158752883 158752883 single base substitution A G downstream_gene_variant LIRI-JP 7 158753166 158753166 single base substitution C A downstream_gene_variant LUSC-KR 7 158646468 158646468 single base substitution C G upstream_gene_variant LUSC-KR 7 158647110 158647110 single base substitution C A upstream_gene_variant LUSC-KR 7 158648135 158648135 single base substitution C T upstream_gene_variant LUSC-KR 7 158648651 158648651 single base substitution G T upstream_gene_variant LUSC-KR 7 158649103 158649103 single base substitution C G upstream_gene_variant LUSC-KR 7 158650404 158650404 single base substitution T C intron_variant LUSC-KR 7 158655334 158655334 single base substitution A G intron_variant LUSC-KR 7 158656821 158656821 single base substitution A G intron_variant LUSC-KR 7 158658818 158658818 single base substitution G T intron_variant LUSC-KR 7 158658818 158658818 single base substitution G T upstream_gene_variant LUSC-KR 7 158664359 158664359 single base substitution C G downstream_gene_variant LUSC-KR 7 158664359 158664359 single base substitution C G intron_variant LUSC-KR 7 158670733 158670733 single base substitution G T intron_variant LUSC-KR 7 158670733 158670733 single base substitution G T upstream_gene_variant LUSC-KR 7 158671370 158671370 single base substitution G A intron_variant LUSC-KR 7 158671370 158671370 single base substitution G A upstream_gene_variant LUSC-KR 7 158672619 158672619 single base substitution A G exon_variant LUSC-KR 7 158672619 158672619 single base substitution A G missense_variant Q273R 818A>G LUSC-KR 7 158672619 158672619 single base substitution A G upstream_gene_variant LUSC-KR 7 158674433 158674433 single base substitution C T intron_variant LUSC-KR 7 158674433 158674433 single base substitution C T upstream_gene_variant LUSC-KR 7 158678785 158678785 single base substitution C G intron_variant LUSC-KR 7 158681790 158681790 single base substitution G T intron_variant LUSC-KR 7 158683949 158683949 single base substitution C A splice_region_variant LUSC-KR 7 158686803 158686803 single base substitution T C intron_variant LUSC-KR 7 158686815 158686815 single base substitution C T intron_variant LUSC-KR 7 158691372 158691372 single base substitution A G intron_variant LUSC-KR 7 158692169 158692169 single base substitution C T intron_variant LUSC-KR 7 158696253 158696253 single base substitution G T exon_variant LUSC-KR 7 158696253 158696253 single base substitution G T intron_variant LUSC-KR 7 158700923 158700923 single base substitution T C intron_variant LUSC-KR 7 158701225 158701225 single base substitution G C intron_variant LUSC-KR 7 158703220 158703220 single base substitution T C intron_variant LUSC-KR 7 158704398 158704398 single base substitution A C intron_variant LUSC-KR 7 158708266 158708266 single base substitution C G intron_variant LUSC-KR 7 158708391 158708391 single base substitution C G intron_variant LUSC-KR 7 158708491 158708491 single base substitution G T intron_variant LUSC-KR 7 158709248 158709248 single base substitution G T intron_variant LUSC-KR 7 158709476 158709476 single base substitution G T intron_variant LUSC-KR 7 158709511 158709511 single base substitution G C intron_variant LUSC-KR 7 158709704 158709704 single base substitution G T intron_variant LUSC-KR 7 158709718 158709718 single base substitution C G intron_variant LUSC-KR 7 158709794 158709794 single base substitution C G intron_variant LUSC-KR 7 158709795 158709795 single base substitution A G intron_variant LUSC-KR 7 158712642 158712642 single base substitution C T intron_variant LUSC-KR 7 158712905 158712905 single base substitution C T intron_variant LUSC-KR 7 158715976 158715976 single base substitution G C intron_variant LUSC-KR 7 158718793 158718793 single base substitution A G intron_variant LUSC-KR 7 158718805 158718805 single base substitution T C intron_variant LUSC-KR 7 158719824 158719824 single base substitution C G intron_variant LUSC-KR 7 158723872 158723872 single base substitution C G intron_variant LUSC-KR 7 158723872 158723872 single base substitution C G upstream_gene_variant LUSC-KR 7 158727303 158727303 single base substitution G T intron_variant LUSC-KR 7 158730415 158730415 single base substitution C T intron_variant LUSC-KR 7 158730864 158730864 single base substitution A G intron_variant LUSC-KR 7 158732088 158732088 single base substitution G T intron_variant LUSC-KR 7 158738611 158738611 single base substitution G T 3_prime_UTR_variant LUSC-KR 7 158738611 158738611 single base substitution G T exon_variant LUSC-KR 7 158738611 158738611 single base substitution G T intron_variant LUSC-KR 7 158738634 158738634 single base substitution G C 3_prime_UTR_variant LUSC-KR 7 158738634 158738634 single base substitution G C exon_variant LUSC-KR 7 158738634 158738634 single base substitution G C intron_variant LUSC-KR 7 158740564 158740564 single base substitution G T downstream_gene_variant LUSC-KR 7 158740564 158740564 single base substitution G T intron_variant LUSC-KR 7 158743138 158743138 single base substitution G C downstream_gene_variant LUSC-KR 7 158743138 158743138 single base substitution G C intron_variant LUSC-KR 7 158743443 158743443 single base substitution G C downstream_gene_variant LUSC-KR 7 158743443 158743443 single base substitution G C intron_variant LUSC-KR 7 158743565 158743565 single base substitution C G downstream_gene_variant LUSC-KR 7 158743565 158743565 single base substitution C G intron_variant LUSC-KR 7 158743582 158743582 single base substitution C T downstream_gene_variant LUSC-KR 7 158743582 158743582 single base substitution C T intron_variant LUSC-KR 7 158743626 158743626 single base substitution C G downstream_gene_variant LUSC-KR 7 158743626 158743626 single base substitution C G intron_variant LUSC-KR 7 158744697 158744697 single base substitution C T intron_variant LUSC-KR 7 158749634 158749634 single base substitution C T downstream_gene_variant LUSC-KR 7 158749819 158749819 single base substitution G A downstream_gene_variant LUSC-KR 7 158750728 158750728 single base substitution T C downstream_gene_variant LUSC-KR 7 158750777 158750777 single base substitution G A downstream_gene_variant LUSC-KR 7 158750781 158750781 single base substitution C T downstream_gene_variant LUSC-KR 7 158750799 158750799 single base substitution A T downstream_gene_variant LUSC-KR 7 158752686 158752686 single base substitution C A downstream_gene_variant LUSC-US 7 158663842 158663842 single base substitution T C missense_variant S27P 79T>C LUSC-US 7 158663842 158663842 single base substitution T C missense_variant S37P 109T>C LUSC-US 7 158672642 158672642 single base substitution A G exon_variant LUSC-US 7 158672642 158672642 single base substitution A G missense_variant K281E 841A>G LUSC-US 7 158672642 158672642 single base substitution A G upstream_gene_variant LUSC-US 7 158677292 158677292 single base substitution G A exon_variant LUSC-US 7 158677292 158677292 single base substitution G A missense_variant R306K 917G>A LUSC-US 7 158704301 158704301 insertion of <=200bp - T exon_variant LUSC-US 7 158704301 158704301 insertion of <=200bp - T frameshift_variant L507L? LUSC-US 7 158705762 158705762 single base substitution G T exon_variant LUSC-US 7 158705762 158705762 single base substitution G T synonymous_variant P559P 1677G>T LUSC-US 7 158718960 158718960 single base substitution C T exon_variant LUSC-US 7 158718960 158718960 single base substitution C T synonymous_variant S780S 2340C>T LUSC-US 7 158719682 158719682 single base substitution G A splice_acceptor_variant LUSC-US 7 158723180 158723180 single base substitution T C 3_prime_UTR_variant LUSC-US 7 158723180 158723180 single base substitution T C exon_variant LUSC-US 7 158723180 158723180 single base substitution T C synonymous_variant H840H 2520T>C LUSC-US 7 158723180 158723180 single base substitution T C upstream_gene_variant LUSC-US 7 158738313 158738313 single base substitution G C 3_prime_UTR_variant LUSC-US 7 158738313 158738313 single base substitution G C exon_variant LUSC-US 7 158738313 158738313 single base substitution G C missense_variant G1015A 3044G>C MALY-DE 7 158648680 158648680 single base substitution T A upstream_gene_variant MALY-DE 7 158648711 158648711 single base substitution C G upstream_gene_variant MALY-DE 7 158661446 158661446 single base substitution G T intron_variant MALY-DE 7 158661446 158661446 single base substitution G T upstream_gene_variant MALY-DE 7 158674806 158674806 single base substitution T C intron_variant MALY-DE 7 158674806 158674806 single base substitution T C upstream_gene_variant MALY-DE 7 158676076 158676076 single base substitution T A intron_variant MALY-DE 7 158676076 158676076 single base substitution T A upstream_gene_variant MALY-DE 7 158681160 158681161 deletion of <=200bp AT - intron_variant MALY-DE 7 158684598 158684598 single base substitution C G intron_variant MALY-DE 7 158684995 158684995 single base substitution G A intron_variant MALY-DE 7 158703104 158703104 single base substitution C G intron_variant MALY-DE 7 158703107 158703107 single base substitution G A intron_variant MALY-DE 7 158703115 158703115 single base substitution G A intron_variant MALY-DE 7 158715650 158715650 single base substitution T G intron_variant MALY-DE 7 158717284 158717284 single base substitution T G intron_variant MALY-DE 7 158721159 158721159 single base substitution G A intron_variant MALY-DE 7 158722214 158722214 single base substitution G A intron_variant MALY-DE 7 158722214 158722214 single base substitution G A upstream_gene_variant MALY-DE 7 158752219 158752219 single base substitution A G downstream_gene_variant MALY-DE 7 158753761 158753761 single base substitution T C downstream_gene_variant MELA-AU 7 158644418 158644418 single base substitution G A upstream_gene_variant MELA-AU 7 158644654 158644654 single base substitution G A upstream_gene_variant MELA-AU 7 158644776 158644776 single base substitution C T upstream_gene_variant MELA-AU 7 158645935 158645935 single base substitution G A upstream_gene_variant MELA-AU 7 158646017 158646017 single base substitution G A upstream_gene_variant MELA-AU 7 158646126 158646126 single base substitution G A upstream_gene_variant MELA-AU 7 158646155 158646155 single base substitution T C upstream_gene_variant MELA-AU 7 158646351 158646351 single base substitution T G upstream_gene_variant MELA-AU 7 158646686 158646686 single base substitution G A upstream_gene_variant MELA-AU 7 158646805 158646805 single base substitution C T upstream_gene_variant MELA-AU 7 158647011 158647011 single base substitution G A upstream_gene_variant MELA-AU 7 158647243 158647243 single base substitution T G upstream_gene_variant MELA-AU 7 158647366 158647366 single base substitution G A upstream_gene_variant MELA-AU 7 158648128 158648128 single base substitution G A upstream_gene_variant MELA-AU 7 158648334 158648334 single base substitution G A upstream_gene_variant MELA-AU 7 158648452 158648452 single base substitution C T upstream_gene_variant MELA-AU 7 158648872 158648872 single base substitution C T upstream_gene_variant MELA-AU 7 158649135 158649136 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 158649250 158649251 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 158649715 158649715 single base substitution C T intron_variant MELA-AU 7 158649954 158649954 single base substitution C A intron_variant MELA-AU 7 158650028 158650028 single base substitution T C intron_variant MELA-AU 7 158650605 158650605 single base substitution C T intron_variant MELA-AU 7 158651214 158651214 single base substitution T C intron_variant MELA-AU 7 158651225 158651225 insertion of <=200bp - A intron_variant MELA-AU 7 158654385 158654385 single base substitution C T intron_variant MELA-AU 7 158656150 158656150 single base substitution G A intron_variant MELA-AU 7 158657512 158657512 single base substitution T C intron_variant MELA-AU 7 158657512 158657512 single base substitution T C upstream_gene_variant MELA-AU 7 158657661 158657661 single base substitution C T intron_variant MELA-AU 7 158657661 158657661 single base substitution C T upstream_gene_variant MELA-AU 7 158659193 158659194 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 158659193 158659194 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 158659220 158659220 single base substitution T C intron_variant MELA-AU 7 158659220 158659220 single base substitution T C upstream_gene_variant MELA-AU 7 158659364 158659364 single base substitution T C intron_variant MELA-AU 7 158659364 158659364 single base substitution T C upstream_gene_variant MELA-AU 7 158659390 158659390 single base substitution A G intron_variant MELA-AU 7 158659390 158659390 single base substitution A G upstream_gene_variant MELA-AU 7 158659769 158659769 single base substitution G A intron_variant MELA-AU 7 158659769 158659769 single base substitution G A upstream_gene_variant MELA-AU 7 158660784 158660784 single base substitution A G intron_variant MELA-AU 7 158660784 158660784 single base substitution A G upstream_gene_variant MELA-AU 7 158661220 158661220 single base substitution T G intron_variant MELA-AU 7 158661220 158661220 single base substitution T G upstream_gene_variant MELA-AU 7 158661748 158661748 single base substitution T A intron_variant MELA-AU 7 158661748 158661748 single base substitution T A upstream_gene_variant MELA-AU 7 158662017 158662017 single base substitution C T intron_variant MELA-AU 7 158662017 158662017 single base substitution C T upstream_gene_variant MELA-AU 7 158662257 158662257 single base substitution C T intron_variant MELA-AU 7 158662695 158662695 single base substitution T C intron_variant MELA-AU 7 158662799 158662799 single base substitution C T intron_variant MELA-AU 7 158663053 158663053 single base substitution C T intron_variant MELA-AU 7 158663644 158663644 single base substitution C T intron_variant MELA-AU 7 158664166 158664166 single base substitution C T missense_variant R135W 403C>T MELA-AU 7 158664166 158664166 single base substitution C T missense_variant R145W 433C>T MELA-AU 7 158664223 158664223 single base substitution C T downstream_gene_variant MELA-AU 7 158664223 158664223 single base substitution C T synonymous_variant L154L 460C>T MELA-AU 7 158664395 158664395 single base substitution C T downstream_gene_variant MELA-AU 7 158664395 158664395 single base substitution C T intron_variant MELA-AU 7 158665249 158665249 single base substitution C T downstream_gene_variant MELA-AU 7 158665249 158665249 single base substitution C T intron_variant MELA-AU 7 158665428 158665428 single base substitution C T downstream_gene_variant MELA-AU 7 158665428 158665428 single base substitution C T intron_variant MELA-AU 7 158665842 158665842 single base substitution C T downstream_gene_variant MELA-AU 7 158665842 158665842 single base substitution C T intron_variant MELA-AU 7 158666136 158666136 single base substitution G A downstream_gene_variant MELA-AU 7 158666136 158666136 single base substitution G A intron_variant MELA-AU 7 158666425 158666425 single base substitution G A downstream_gene_variant MELA-AU 7 158666425 158666425 single base substitution G A intron_variant MELA-AU 7 158666530 158666530 single base substitution C T downstream_gene_variant MELA-AU 7 158666530 158666530 single base substitution C T intron_variant MELA-AU 7 158666942 158666942 single base substitution A T downstream_gene_variant MELA-AU 7 158666942 158666942 single base substitution A T intron_variant MELA-AU 7 158667078 158667078 single base substitution T C downstream_gene_variant MELA-AU 7 158667078 158667078 single base substitution T C intron_variant MELA-AU 7 158667276 158667276 single base substitution C T downstream_gene_variant MELA-AU 7 158667276 158667276 single base substitution C T intron_variant MELA-AU 7 158667303 158667303 single base substitution C T downstream_gene_variant MELA-AU 7 158667303 158667303 single base substitution C T intron_variant MELA-AU 7 158667388 158667388 single base substitution C T downstream_gene_variant MELA-AU 7 158667388 158667388 single base substitution C T intron_variant MELA-AU 7 158667474 158667474 single base substitution C T downstream_gene_variant MELA-AU 7 158667474 158667474 single base substitution C T intron_variant MELA-AU 7 158667474 158667474 single base substitution C T upstream_gene_variant MELA-AU 7 158667498 158667498 single base substitution C T downstream_gene_variant MELA-AU 7 158667498 158667498 single base substitution C T intron_variant MELA-AU 7 158667498 158667498 single base substitution C T upstream_gene_variant MELA-AU 7 158667875 158667875 single base substitution C T downstream_gene_variant MELA-AU 7 158667875 158667875 single base substitution C T intron_variant MELA-AU 7 158667875 158667875 single base substitution C T upstream_gene_variant MELA-AU 7 158668010 158668010 single base substitution T C downstream_gene_variant MELA-AU 7 158668010 158668010 single base substitution T C intron_variant MELA-AU 7 158668010 158668010 single base substitution T C upstream_gene_variant MELA-AU 7 158668249 158668249 single base substitution G T downstream_gene_variant MELA-AU 7 158668249 158668249 single base substitution G T intron_variant MELA-AU 7 158668249 158668249 single base substitution G T upstream_gene_variant MELA-AU 7 158669080 158669080 single base substitution C T downstream_gene_variant MELA-AU 7 158669080 158669080 single base substitution C T intron_variant MELA-AU 7 158669080 158669080 single base substitution C T upstream_gene_variant MELA-AU 7 158669116 158669116 single base substitution C T downstream_gene_variant MELA-AU 7 158669116 158669116 single base substitution C T intron_variant MELA-AU 7 158669116 158669116 single base substitution C T upstream_gene_variant MELA-AU 7 158669224 158669224 single base substitution C T intron_variant MELA-AU 7 158669224 158669224 single base substitution C T upstream_gene_variant MELA-AU 7 158669415 158669415 single base substitution C T intron_variant MELA-AU 7 158669415 158669415 single base substitution C T upstream_gene_variant MELA-AU 7 158669723 158669723 single base substitution C T intron_variant MELA-AU 7 158669723 158669723 single base substitution C T upstream_gene_variant MELA-AU 7 158669798 158669798 single base substitution C T intron_variant MELA-AU 7 158669798 158669798 single base substitution C T upstream_gene_variant MELA-AU 7 158669876 158669876 single base substitution G A intron_variant MELA-AU 7 158669876 158669876 single base substitution G A upstream_gene_variant MELA-AU 7 158669967 158669967 single base substitution C T intron_variant MELA-AU 7 158669967 158669967 single base substitution C T upstream_gene_variant MELA-AU 7 158670109 158670110 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 7 158670109 158670110 multiple base substitution (>=2bp and <=200bp) TT AA upstream_gene_variant MELA-AU 7 158670464 158670464 single base substitution T C intron_variant MELA-AU 7 158670464 158670464 single base substitution T C upstream_gene_variant MELA-AU 7 158671283 158671283 single base substitution C T intron_variant MELA-AU 7 158671283 158671283 single base substitution C T upstream_gene_variant MELA-AU 7 158671955 158671955 single base substitution C T intron_variant MELA-AU 7 158671955 158671955 single base substitution C T upstream_gene_variant MELA-AU 7 158671969 158671969 single base substitution C T intron_variant MELA-AU 7 158671969 158671969 single base substitution C T upstream_gene_variant MELA-AU 7 158672330 158672330 single base substitution C T intron_variant MELA-AU 7 158672330 158672330 single base substitution C T upstream_gene_variant MELA-AU 7 158672365 158672365 single base substitution T C intron_variant MELA-AU 7 158672365 158672365 single base substitution T C upstream_gene_variant MELA-AU 7 158672869 158672869 single base substitution G T intron_variant MELA-AU 7 158672869 158672869 single base substitution G T upstream_gene_variant MELA-AU 7 158672892 158672892 single base substitution C T intron_variant MELA-AU 7 158672892 158672892 single base substitution C T upstream_gene_variant MELA-AU 7 158673530 158673530 single base substitution C T intron_variant MELA-AU 7 158673530 158673530 single base substitution C T upstream_gene_variant MELA-AU 7 158673932 158673932 single base substitution C T intron_variant MELA-AU 7 158673932 158673932 single base substitution C T upstream_gene_variant MELA-AU 7 158674031 158674031 single base substitution G A intron_variant MELA-AU 7 158674031 158674031 single base substitution G A upstream_gene_variant MELA-AU 7 158674888 158674888 single base substitution G A intron_variant MELA-AU 7 158674888 158674888 single base substitution G A upstream_gene_variant MELA-AU 7 158674927 158674928 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 158674927 158674928 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 158674935 158674935 insertion of <=200bp - G intron_variant MELA-AU 7 158674935 158674935 insertion of <=200bp - G upstream_gene_variant MELA-AU 7 158675353 158675353 single base substitution C T intron_variant MELA-AU 7 158675353 158675353 single base substitution C T upstream_gene_variant MELA-AU 7 158677273 158677273 single base substitution C T exon_variant MELA-AU 7 158677273 158677273 single base substitution C T stop_gained R300* 898C>T MELA-AU 7 158677920 158677920 single base substitution G A intron_variant MELA-AU 7 158677993 158677993 single base substitution C T intron_variant MELA-AU 7 158678082 158678082 single base substitution G T intron_variant MELA-AU 7 158678395 158678395 single base substitution C T intron_variant MELA-AU 7 158678396 158678396 single base substitution G A intron_variant MELA-AU 7 158679706 158679706 single base substitution T G splice_region_variant MELA-AU 7 158681678 158681678 single base substitution C T intron_variant MELA-AU 7 158681946 158681946 single base substitution T C intron_variant MELA-AU 7 158682106 158682106 single base substitution C T intron_variant MELA-AU 7 158682120 158682120 single base substitution G A intron_variant MELA-AU 7 158682208 158682208 single base substitution C T intron_variant MELA-AU 7 158682225 158682225 single base substitution C T intron_variant MELA-AU 7 158683007 158683007 single base substitution T A intron_variant MELA-AU 7 158683318 158683318 single base substitution C T intron_variant MELA-AU 7 158683375 158683375 single base substitution C T intron_variant MELA-AU 7 158683728 158683728 single base substitution C T intron_variant MELA-AU 7 158684096 158684096 single base substitution C T intron_variant MELA-AU 7 158684282 158684282 single base substitution C T intron_variant MELA-AU 7 158685391 158685392 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 158685463 158685463 single base substitution C T intron_variant MELA-AU 7 158686521 158686521 single base substitution C T intron_variant MELA-AU 7 158686594 158686594 single base substitution C T intron_variant MELA-AU 7 158687949 158687949 single base substitution C T intron_variant MELA-AU 7 158688617 158688617 single base substitution C T intron_variant MELA-AU 7 158688798 158688798 single base substitution C T intron_variant MELA-AU 7 158689748 158689748 single base substitution C T intron_variant MELA-AU 7 158690329 158690329 single base substitution C T intron_variant MELA-AU 7 158691742 158691742 single base substitution C T intron_variant MELA-AU 7 158692149 158692149 single base substitution C T intron_variant MELA-AU 7 158692643 158692643 single base substitution C T intron_variant MELA-AU 7 158693492 158693492 single base substitution G A intron_variant MELA-AU 7 158694216 158694216 single base substitution G A intron_variant MELA-AU 7 158694546 158694546 single base substitution C T intron_variant MELA-AU 7 158694554 158694565 deletion of <=200bp CTTAAAAATCAG - intron_variant MELA-AU 7 158694926 158694926 single base substitution A G intron_variant MELA-AU 7 158695230 158695230 single base substitution C T exon_variant MELA-AU 7 158695230 158695230 single base substitution C T missense_variant S434F 1301C>T MELA-AU 7 158695487 158695487 single base substitution C T exon_variant MELA-AU 7 158695487 158695487 single base substitution C T intron_variant MELA-AU 7 158695502 158695502 single base substitution T C exon_variant MELA-AU 7 158695502 158695502 single base substitution T C intron_variant MELA-AU 7 158695806 158695806 single base substitution C G exon_variant MELA-AU 7 158695806 158695806 single base substitution C G intron_variant MELA-AU 7 158696627 158696657 deletion of <=200bp TTATTTTTGGCATATTTCTTATTTGAAGGAG - exon_variant MELA-AU 7 158696627 158696657 deletion of <=200bp TTATTTTTGGCATATTTCTTATTTGAAGGAG - intron_variant MELA-AU 7 158696745 158696745 single base substitution C T exon_variant MELA-AU 7 158696745 158696745 single base substitution C T intron_variant MELA-AU 7 158696882 158696882 single base substitution C T exon_variant MELA-AU 7 158696882 158696882 single base substitution C T intron_variant MELA-AU 7 158696908 158696908 single base substitution T C exon_variant MELA-AU 7 158696908 158696908 single base substitution T C intron_variant MELA-AU 7 158697175 158697175 single base substitution C T exon_variant MELA-AU 7 158697175 158697175 single base substitution C T intron_variant MELA-AU 7 158697414 158697414 single base substitution C T exon_variant MELA-AU 7 158697414 158697414 single base substitution C T intron_variant MELA-AU 7 158698334 158698334 single base substitution T C intron_variant MELA-AU 7 158698370 158698370 single base substitution T C intron_variant MELA-AU 7 158698643 158698643 single base substitution C T intron_variant MELA-AU 7 158698693 158698694 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 7 158698693 158698694 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant SP457SS MELA-AU 7 158698858 158698858 single base substitution C T intron_variant MELA-AU 7 158699065 158699065 single base substitution C T intron_variant MELA-AU 7 158699183 158699183 single base substitution C T intron_variant MELA-AU 7 158699241 158699241 single base substitution C T intron_variant MELA-AU 7 158699366 158699366 single base substitution C T intron_variant MELA-AU 7 158699368 158699368 single base substitution C T intron_variant MELA-AU 7 158699483 158699483 single base substitution C T intron_variant MELA-AU 7 158699695 158699695 single base substitution C T intron_variant MELA-AU 7 158700231 158700231 single base substitution C T intron_variant MELA-AU 7 158700232 158700232 single base substitution C T intron_variant MELA-AU 7 158700255 158700255 single base substitution C T intron_variant MELA-AU 7 158700546 158700546 single base substitution C T intron_variant MELA-AU 7 158701370 158701370 single base substitution C T intron_variant MELA-AU 7 158701499 158701499 single base substitution G C intron_variant MELA-AU 7 158701718 158701718 single base substitution T A intron_variant MELA-AU 7 158701721 158701721 single base substitution T A intron_variant MELA-AU 7 158701904 158701904 single base substitution C T intron_variant MELA-AU 7 158701945 158701945 single base substitution C T intron_variant MELA-AU 7 158702057 158702057 single base substitution C T intron_variant MELA-AU 7 158702568 158702568 single base substitution C T intron_variant MELA-AU 7 158702608 158702608 single base substitution G A intron_variant MELA-AU 7 158702828 158702828 single base substitution C T intron_variant MELA-AU 7 158703487 158703487 single base substitution A T intron_variant MELA-AU 7 158703537 158703538 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 158703656 158703656 single base substitution C T intron_variant MELA-AU 7 158703846 158703846 single base substitution C T intron_variant MELA-AU 7 158704060 158704060 single base substitution C T intron_variant MELA-AU 7 158704187 158704187 single base substitution C T intron_variant MELA-AU 7 158704387 158704387 single base substitution T G intron_variant MELA-AU 7 158704927 158704927 single base substitution G A intron_variant MELA-AU 7 158705081 158705081 single base substitution C T intron_variant MELA-AU 7 158705942 158705942 single base substitution A G intron_variant MELA-AU 7 158706319 158706319 single base substitution C T intron_variant MELA-AU 7 158706420 158706420 single base substitution G A intron_variant MELA-AU 7 158706441 158706441 single base substitution C T intron_variant MELA-AU 7 158706811 158706811 single base substitution C T intron_variant MELA-AU 7 158707460 158707460 single base substitution C T intron_variant MELA-AU 7 158707475 158707475 single base substitution C T intron_variant MELA-AU 7 158708830 158708830 single base substitution G A intron_variant MELA-AU 7 158708885 158708885 single base substitution T C intron_variant MELA-AU 7 158709779 158709779 single base substitution C G intron_variant MELA-AU 7 158709906 158709906 single base substitution A C intron_variant MELA-AU 7 158709931 158709931 single base substitution G A intron_variant MELA-AU 7 158709933 158709933 single base substitution C A intron_variant MELA-AU 7 158710395 158710395 single base substitution C T intron_variant MELA-AU 7 158710400 158710400 single base substitution C T intron_variant MELA-AU 7 158710454 158710454 single base substitution C T intron_variant MELA-AU 7 158710987 158710987 single base substitution C T intron_variant MELA-AU 7 158711015 158711015 single base substitution C T intron_variant MELA-AU 7 158711376 158711376 single base substitution A T intron_variant MELA-AU 7 158711554 158711554 single base substitution C T exon_variant MELA-AU 7 158711554 158711554 single base substitution C T missense_variant L639F 1915C>T MELA-AU 7 158711711 158711711 single base substitution G T intron_variant MELA-AU 7 158711720 158711720 single base substitution T C intron_variant MELA-AU 7 158711944 158711944 single base substitution C T intron_variant MELA-AU 7 158712162 158712162 single base substitution C T intron_variant MELA-AU 7 158712425 158712425 single base substitution T G intron_variant MELA-AU 7 158712643 158712643 single base substitution G A intron_variant MELA-AU 7 158715823 158715823 single base substitution C T intron_variant MELA-AU 7 158715838 158715838 single base substitution C T intron_variant MELA-AU 7 158716940 158716940 single base substitution C T intron_variant MELA-AU 7 158717143 158717143 single base substitution C T intron_variant MELA-AU 7 158717278 158717278 single base substitution C T intron_variant MELA-AU 7 158718376 158718376 single base substitution C T intron_variant MELA-AU 7 158718687 158718687 single base substitution C T intron_variant MELA-AU 7 158718911 158718911 single base substitution C T exon_variant MELA-AU 7 158718911 158718911 single base substitution C T missense_variant P764L 2291C>T MELA-AU 7 158719222 158719222 single base substitution G A intron_variant MELA-AU 7 158719512 158719513 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 158719939 158719939 single base substitution C T intron_variant MELA-AU 7 158720048 158720048 single base substitution C T intron_variant MELA-AU 7 158720558 158720558 single base substitution C G intron_variant MELA-AU 7 158720610 158720610 single base substitution C T intron_variant MELA-AU 7 158720658 158720658 single base substitution C T intron_variant MELA-AU 7 158720795 158720795 single base substitution C T intron_variant MELA-AU 7 158720848 158720848 single base substitution C T intron_variant MELA-AU 7 158720862 158720862 single base substitution C T intron_variant MELA-AU 7 158721003 158721003 single base substitution C T intron_variant MELA-AU 7 158721043 158721043 single base substitution C T intron_variant MELA-AU 7 158721055 158721055 single base substitution C T intron_variant MELA-AU 7 158721110 158721110 single base substitution C T intron_variant MELA-AU 7 158721608 158721608 single base substitution G A intron_variant MELA-AU 7 158722097 158722097 single base substitution C T intron_variant MELA-AU 7 158722097 158722097 single base substitution C T upstream_gene_variant MELA-AU 7 158722315 158722315 single base substitution G A intron_variant MELA-AU 7 158722315 158722315 single base substitution G A upstream_gene_variant MELA-AU 7 158722524 158722524 single base substitution C T intron_variant MELA-AU 7 158722524 158722524 single base substitution C T upstream_gene_variant MELA-AU 7 158723074 158723074 single base substitution C T intron_variant MELA-AU 7 158723074 158723074 single base substitution C T upstream_gene_variant MELA-AU 7 158723389 158723389 single base substitution C T intron_variant MELA-AU 7 158723389 158723389 single base substitution C T upstream_gene_variant MELA-AU 7 158723450 158723450 single base substitution C T intron_variant MELA-AU 7 158723450 158723450 single base substitution C T upstream_gene_variant MELA-AU 7 158723512 158723512 single base substitution C T intron_variant MELA-AU 7 158723512 158723512 single base substitution C T upstream_gene_variant MELA-AU 7 158723672 158723672 single base substitution A T intron_variant MELA-AU 7 158723672 158723672 single base substitution A T upstream_gene_variant MELA-AU 7 158725255 158725255 single base substitution C T intron_variant MELA-AU 7 158725255 158725255 single base substitution C T upstream_gene_variant MELA-AU 7 158725442 158725442 single base substitution A G intron_variant MELA-AU 7 158725442 158725442 single base substitution A G upstream_gene_variant MELA-AU 7 158725664 158725664 single base substitution C T intron_variant MELA-AU 7 158725664 158725664 single base substitution C T upstream_gene_variant MELA-AU 7 158725895 158725895 single base substitution C T intron_variant MELA-AU 7 158725895 158725895 single base substitution C T upstream_gene_variant MELA-AU 7 158726083 158726083 single base substitution C T intron_variant MELA-AU 7 158726083 158726083 single base substitution C T upstream_gene_variant MELA-AU 7 158726261 158726261 single base substitution C T intron_variant MELA-AU 7 158726261 158726261 single base substitution C T upstream_gene_variant MELA-AU 7 158726264 158726264 single base substitution A T intron_variant MELA-AU 7 158726264 158726264 single base substitution A T upstream_gene_variant MELA-AU 7 158726365 158726365 single base substitution C T intron_variant MELA-AU 7 158726365 158726365 single base substitution C T upstream_gene_variant MELA-AU 7 158726536 158726536 single base substitution C A intron_variant MELA-AU 7 158726536 158726536 single base substitution C A upstream_gene_variant MELA-AU 7 158727077 158727077 single base substitution C T intron_variant MELA-AU 7 158727559 158727559 single base substitution G A intron_variant MELA-AU 7 158727956 158727956 single base substitution C T intron_variant MELA-AU 7 158728354 158728354 single base substitution C T intron_variant MELA-AU 7 158728356 158728356 single base substitution C T intron_variant MELA-AU 7 158728632 158728633 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 158728668 158728668 single base substitution G A intron_variant MELA-AU 7 158729466 158729466 single base substitution C T intron_variant MELA-AU 7 158730186 158730186 single base substitution G A intron_variant MELA-AU 7 158730481 158730481 single base substitution A C intron_variant MELA-AU 7 158730777 158730777 single base substitution C T intron_variant MELA-AU 7 158731577 158731577 single base substitution C T intron_variant MELA-AU 7 158731754 158731754 single base substitution T C intron_variant MELA-AU 7 158731786 158731786 single base substitution C T intron_variant MELA-AU 7 158732322 158732322 single base substitution C T intron_variant MELA-AU 7 158732346 158732346 single base substitution C T intron_variant MELA-AU 7 158733302 158733302 single base substitution G A intron_variant MELA-AU 7 158733591 158733591 single base substitution A G intron_variant MELA-AU 7 158733746 158733746 single base substitution G A intron_variant MELA-AU 7 158733881 158733881 single base substitution G C intron_variant MELA-AU 7 158733910 158733910 single base substitution C A intron_variant MELA-AU 7 158734041 158734041 single base substitution G A intron_variant MELA-AU 7 158734605 158734605 single base substitution C T intron_variant MELA-AU 7 158734711 158734711 single base substitution C A 3_prime_UTR_variant MELA-AU 7 158734711 158734711 single base substitution C A exon_variant MELA-AU 7 158734711 158734711 single base substitution C A synonymous_variant T958T 2874C>A MELA-AU 7 158735114 158735114 single base substitution C T intron_variant MELA-AU 7 158735131 158735131 single base substitution G A intron_variant MELA-AU 7 158735767 158735767 single base substitution C T intron_variant MELA-AU 7 158735786 158735786 single base substitution G A intron_variant MELA-AU 7 158736063 158736063 single base substitution C T intron_variant MELA-AU 7 158736498 158736498 single base substitution C T intron_variant MELA-AU 7 158736583 158736583 single base substitution C T intron_variant MELA-AU 7 158737259 158737259 single base substitution G A intron_variant MELA-AU 7 158737336 158737336 single base substitution G A intron_variant MELA-AU 7 158737690 158737690 single base substitution G A intron_variant MELA-AU 7 158739115 158739115 single base substitution C T downstream_gene_variant MELA-AU 7 158739115 158739115 single base substitution C T intron_variant MELA-AU 7 158739333 158739333 single base substitution C T downstream_gene_variant MELA-AU 7 158739333 158739333 single base substitution C T intron_variant MELA-AU 7 158739431 158739431 single base substitution C T downstream_gene_variant MELA-AU 7 158739431 158739431 single base substitution C T intron_variant MELA-AU 7 158740331 158740331 single base substitution G A downstream_gene_variant MELA-AU 7 158740331 158740331 single base substitution G A intron_variant MELA-AU 7 158740601 158740601 single base substitution C T downstream_gene_variant MELA-AU 7 158740601 158740601 single base substitution C T intron_variant MELA-AU 7 158740753 158740753 single base substitution C T downstream_gene_variant MELA-AU 7 158740753 158740753 single base substitution C T intron_variant MELA-AU 7 158740939 158740939 single base substitution C T downstream_gene_variant MELA-AU 7 158740939 158740939 single base substitution C T intron_variant MELA-AU 7 158741013 158741013 single base substitution C T downstream_gene_variant MELA-AU 7 158741013 158741013 single base substitution C T intron_variant MELA-AU 7 158741370 158741370 single base substitution C T downstream_gene_variant MELA-AU 7 158741370 158741370 single base substitution C T intron_variant MELA-AU 7 158742751 158742751 single base substitution C T downstream_gene_variant MELA-AU 7 158742751 158742751 single base substitution C T intron_variant MELA-AU 7 158742766 158742766 single base substitution C T downstream_gene_variant MELA-AU 7 158742766 158742766 single base substitution C T intron_variant MELA-AU 7 158743076 158743076 single base substitution C T downstream_gene_variant MELA-AU 7 158743076 158743076 single base substitution C T intron_variant MELA-AU 7 158743744 158743744 single base substitution C T downstream_gene_variant MELA-AU 7 158743744 158743744 single base substitution C T intron_variant MELA-AU 7 158744265 158744265 single base substitution C T intron_variant MELA-AU 7 158745137 158745137 single base substitution G A intron_variant MELA-AU 7 158745144 158745144 insertion of <=200bp - CCGTGGCTGAGATGG intron_variant MELA-AU 7 158745375 158745375 single base substitution G A intron_variant MELA-AU 7 158745414 158745414 single base substitution G A intron_variant MELA-AU 7 158745487 158745487 single base substitution C T intron_variant MELA-AU 7 158746296 158746296 single base substitution G A intron_variant MELA-AU 7 158746740 158746740 single base substitution C T intron_variant MELA-AU 7 158749365 158749365 single base substitution C T 3_prime_UTR_variant MELA-AU 7 158749384 158749384 single base substitution C T 3_prime_UTR_variant MELA-AU 7 158749710 158749710 single base substitution C T downstream_gene_variant MELA-AU 7 158750069 158750082 deletion of <=200bp TGTTGTGGATAGAC - downstream_gene_variant MELA-AU 7 158750243 158750243 single base substitution G C downstream_gene_variant MELA-AU 7 158750484 158750484 single base substitution G A downstream_gene_variant MELA-AU 7 158750669 158750669 single base substitution G A downstream_gene_variant MELA-AU 7 158750746 158750746 single base substitution T A downstream_gene_variant MELA-AU 7 158750852 158750852 single base substitution T A downstream_gene_variant MELA-AU 7 158750885 158750885 single base substitution C T downstream_gene_variant MELA-AU 7 158751461 158751461 single base substitution C T downstream_gene_variant MELA-AU 7 158751791 158751791 single base substitution C T downstream_gene_variant MELA-AU 7 158752677 158752677 single base substitution C T downstream_gene_variant MELA-AU 7 158752711 158752711 single base substitution C T downstream_gene_variant MELA-AU 7 158752715 158752715 single base substitution C T downstream_gene_variant MELA-AU 7 158752809 158752809 single base substitution C T downstream_gene_variant MELA-AU 7 158752986 158752986 single base substitution G A downstream_gene_variant MELA-AU 7 158754109 158754109 single base substitution C T downstream_gene_variant ORCA-IN 7 158648634 158648634 insertion of <=200bp - C upstream_gene_variant ORCA-IN 7 158650230 158650231 deletion of <=200bp TG - intron_variant ORCA-IN 7 158664939 158664939 single base substitution C T downstream_gene_variant ORCA-IN 7 158664939 158664939 single base substitution C T intron_variant ORCA-IN 7 158683319 158683319 single base substitution G A intron_variant ORCA-IN 7 158692824 158692824 deletion of <=200bp C - intron_variant ORCA-IN 7 158701474 158701474 single base substitution C T intron_variant ORCA-IN 7 158705531 158705531 single base substitution G A intron_variant ORCA-IN 7 158726368 158726368 single base substitution G T intron_variant ORCA-IN 7 158726368 158726368 single base substitution G T upstream_gene_variant ORCA-IN 7 158734670 158734670 single base substitution C A 3_prime_UTR_variant ORCA-IN 7 158734670 158734670 single base substitution C A exon_variant ORCA-IN 7 158734670 158734670 single base substitution C A missense_variant L945I 2833C>A OV-AU 7 158645908 158645908 single base substitution A G upstream_gene_variant OV-AU 7 158649303 158649303 single base substitution C G 5_prime_UTR_variant OV-AU 7 158650837 158650837 single base substitution C G intron_variant OV-AU 7 158655564 158655564 single base substitution A T intron_variant OV-AU 7 158657300 158657300 single base substitution A C intron_variant OV-AU 7 158657300 158657300 single base substitution A C upstream_gene_variant OV-AU 7 158664941 158664941 single base substitution A T downstream_gene_variant OV-AU 7 158664941 158664941 single base substitution A T intron_variant OV-AU 7 158666338 158666338 single base substitution G A downstream_gene_variant OV-AU 7 158666338 158666338 single base substitution G A intron_variant OV-AU 7 158680915 158680915 single base substitution C A intron_variant OV-AU 7 158682269 158682269 single base substitution T G intron_variant OV-AU 7 158684668 158684668 single base substitution G A intron_variant OV-AU 7 158685523 158685523 single base substitution T C intron_variant OV-AU 7 158685987 158685987 single base substitution G T intron_variant OV-AU 7 158692507 158692507 single base substitution A T intron_variant OV-AU 7 158700458 158700458 single base substitution C A intron_variant OV-AU 7 158701134 158701134 single base substitution A G intron_variant OV-AU 7 158702921 158702921 single base substitution C T intron_variant OV-AU 7 158708609 158708609 single base substitution C T intron_variant OV-AU 7 158708642 158708642 single base substitution T C intron_variant OV-AU 7 158709625 158709625 single base substitution G A intron_variant OV-AU 7 158709665 158709665 single base substitution C T intron_variant OV-AU 7 158710203 158710203 single base substitution A C intron_variant OV-AU 7 158722648 158722648 single base substitution G A intron_variant OV-AU 7 158722648 158722648 single base substitution G A upstream_gene_variant OV-AU 7 158730067 158730067 single base substitution C G intron_variant OV-AU 7 158735727 158735727 single base substitution T C intron_variant OV-AU 7 158739187 158739187 single base substitution T G downstream_gene_variant OV-AU 7 158739187 158739187 single base substitution T G intron_variant OV-AU 7 158741589 158741589 single base substitution C G downstream_gene_variant OV-AU 7 158741589 158741589 single base substitution C G intron_variant OV-AU 7 158742075 158742075 single base substitution G A downstream_gene_variant OV-AU 7 158742075 158742075 single base substitution G A intron_variant OV-AU 7 158749437 158749437 single base substitution C T 3_prime_UTR_variant OV-AU 7 158749600 158749600 single base substitution G T downstream_gene_variant PACA-AU 7 158645786 158645786 single base substitution G A upstream_gene_variant PACA-AU 7 158650470 158650470 single base substitution A C intron_variant PACA-AU 7 158655813 158655813 single base substitution T G intron_variant PACA-AU 7 158660376 158660376 single base substitution C A intron_variant PACA-AU 7 158660376 158660376 single base substitution C A upstream_gene_variant PACA-AU 7 158663962 158663962 single base substitution A G missense_variant R67G 199A>G PACA-AU 7 158663962 158663962 single base substitution A G missense_variant R77G 229A>G PACA-AU 7 158664484 158664484 single base substitution C T downstream_gene_variant PACA-AU 7 158664484 158664484 single base substitution C T intron_variant PACA-AU 7 158671939 158671939 single base substitution G T intron_variant PACA-AU 7 158671939 158671939 single base substitution G T upstream_gene_variant PACA-AU 7 158673261 158673261 single base substitution A T intron_variant PACA-AU 7 158673261 158673261 single base substitution A T upstream_gene_variant PACA-AU 7 158680755 158680755 single base substitution G A intron_variant PACA-AU 7 158681500 158681500 single base substitution G A intron_variant PACA-AU 7 158684995 158684995 single base substitution G A intron_variant PACA-AU 7 158687968 158687968 single base substitution G A intron_variant PACA-AU 7 158690758 158690758 single base substitution C A intron_variant PACA-AU 7 158697076 158697076 single base substitution G A exon_variant PACA-AU 7 158697076 158697076 single base substitution G A intron_variant PACA-AU 7 158701797 158701797 single base substitution G A intron_variant PACA-AU 7 158707661 158707661 single base substitution T A intron_variant PACA-AU 7 158707855 158707855 single base substitution C T intron_variant PACA-AU 7 158707886 158707886 single base substitution C G intron_variant PACA-AU 7 158708129 158708129 single base substitution G C intron_variant PACA-AU 7 158709665 158709665 single base substitution C T intron_variant PACA-AU 7 158710320 158710320 single base substitution C G intron_variant PACA-AU 7 158712439 158712439 single base substitution C T intron_variant PACA-AU 7 158713415 158713415 single base substitution G C intron_variant PACA-AU 7 158716979 158716979 single base substitution C T intron_variant PACA-AU 7 158738896 158738896 single base substitution G A downstream_gene_variant PACA-AU 7 158738896 158738896 single base substitution G A intron_variant PACA-AU 7 158739213 158739213 single base substitution G A downstream_gene_variant PACA-AU 7 158739213 158739213 single base substitution G A intron_variant PACA-AU 7 158740940 158740940 single base substitution C T downstream_gene_variant PACA-AU 7 158740940 158740940 single base substitution C T intron_variant PACA-AU 7 158742305 158742305 single base substitution C T downstream_gene_variant PACA-AU 7 158742305 158742305 single base substitution C T intron_variant PACA-AU 7 158742624 158742624 single base substitution G T downstream_gene_variant PACA-AU 7 158742624 158742624 single base substitution G T intron_variant PACA-AU 7 158744441 158744441 single base substitution G A intron_variant PACA-AU 7 158745313 158745313 single base substitution G A intron_variant PACA-AU 7 158745751 158745751 single base substitution G A intron_variant PACA-AU 7 158747647 158747647 single base substitution T C intron_variant PACA-AU 7 158747820 158747820 single base substitution T G intron_variant PACA-AU 7 158752715 158752715 single base substitution C T downstream_gene_variant PACA-CA 7 158644802 158644802 single base substitution G A upstream_gene_variant PACA-CA 7 158646554 158646554 single base substitution G A upstream_gene_variant PACA-CA 7 158648233 158648233 single base substitution C A upstream_gene_variant PACA-CA 7 158657593 158657593 single base substitution G C intron_variant PACA-CA 7 158657593 158657593 single base substitution G C upstream_gene_variant PACA-CA 7 158658950 158658950 single base substitution A G intron_variant PACA-CA 7 158658950 158658950 single base substitution A G upstream_gene_variant PACA-CA 7 158659422 158659422 single base substitution G A intron_variant PACA-CA 7 158659422 158659422 single base substitution G A upstream_gene_variant PACA-CA 7 158660554 158660554 single base substitution C T intron_variant PACA-CA 7 158660554 158660554 single base substitution C T upstream_gene_variant PACA-CA 7 158662443 158662443 single base substitution G T intron_variant PACA-CA 7 158666516 158666516 single base substitution C T downstream_gene_variant PACA-CA 7 158666516 158666516 single base substitution C T intron_variant PACA-CA 7 158670536 158670536 single base substitution T C intron_variant PACA-CA 7 158670536 158670536 single base substitution T C upstream_gene_variant PACA-CA 7 158670806 158670806 single base substitution G T intron_variant PACA-CA 7 158670806 158670806 single base substitution G T upstream_gene_variant PACA-CA 7 158670876 158670876 single base substitution A G intron_variant PACA-CA 7 158670876 158670876 single base substitution A G upstream_gene_variant PACA-CA 7 158670957 158670957 single base substitution A G intron_variant PACA-CA 7 158670957 158670957 single base substitution A G upstream_gene_variant PACA-CA 7 158671249 158671249 single base substitution T C intron_variant PACA-CA 7 158671249 158671249 single base substitution T C upstream_gene_variant PACA-CA 7 158674851 158674851 single base substitution G T intron_variant PACA-CA 7 158674851 158674851 single base substitution G T upstream_gene_variant PACA-CA 7 158675402 158675402 deletion of <=200bp A - intron_variant PACA-CA 7 158675402 158675402 deletion of <=200bp A - upstream_gene_variant PACA-CA 7 158680554 158680554 single base substitution C T intron_variant PACA-CA 7 158683935 158683935 single base substitution G T intron_variant PACA-CA 7 158685042 158685042 single base substitution T C intron_variant PACA-CA 7 158685858 158685858 single base substitution C T intron_variant PACA-CA 7 158686347 158686347 single base substitution G T intron_variant PACA-CA 7 158690746 158690746 insertion of <=200bp - T intron_variant PACA-CA 7 158691735 158691735 single base substitution T C intron_variant PACA-CA 7 158706400 158706400 deletion of <=200bp A - intron_variant PACA-CA 7 158706483 158706483 single base substitution T G intron_variant PACA-CA 7 158708365 158708365 single base substitution T C intron_variant PACA-CA 7 158708452 158708456 deletion of <=200bp CTACA - intron_variant PACA-CA 7 158708528 158708532 deletion of <=200bp CAACA - intron_variant PACA-CA 7 158708604 158708608 deletion of <=200bp CGACA - intron_variant PACA-CA 7 158710148 158710148 single base substitution T C intron_variant PACA-CA 7 158714779 158714779 single base substitution C G intron_variant PACA-CA 7 158715180 158715180 single base substitution C T exon_variant PACA-CA 7 158715180 158715180 single base substitution C T intron_variant PACA-CA 7 158715180 158715180 single base substitution C T synonymous_variant L678L 2034C>T PACA-CA 7 158715834 158715834 single base substitution A G intron_variant PACA-CA 7 158716021 158716021 single base substitution C T intron_variant PACA-CA 7 158722057 158722057 single base substitution G C intron_variant PACA-CA 7 158722057 158722057 single base substitution G C upstream_gene_variant PACA-CA 7 158722209 158722209 single base substitution C T intron_variant PACA-CA 7 158722209 158722209 single base substitution C T upstream_gene_variant PACA-CA 7 158726181 158726181 single base substitution C G intron_variant PACA-CA 7 158726181 158726181 single base substitution C G upstream_gene_variant PACA-CA 7 158728714 158728714 single base substitution C T intron_variant PACA-CA 7 158734631 158734631 single base substitution G A 3_prime_UTR_variant PACA-CA 7 158734631 158734631 single base substitution G A exon_variant PACA-CA 7 158734631 158734631 single base substitution G A missense_variant G932R 2794G>A PACA-CA 7 158736247 158736247 single base substitution G T intron_variant PACA-CA 7 158740053 158740053 single base substitution G A downstream_gene_variant PACA-CA 7 158740053 158740053 single base substitution G A intron_variant PACA-CA 7 158743461 158743461 single base substitution A G downstream_gene_variant PACA-CA 7 158743461 158743461 single base substitution A G intron_variant PACA-CA 7 158743614 158743614 single base substitution G T downstream_gene_variant PACA-CA 7 158743614 158743614 single base substitution G T intron_variant PACA-CA 7 158744337 158744337 single base substitution G T intron_variant PACA-CA 7 158747573 158747573 single base substitution C T intron_variant PACA-CA 7 158750927 158750927 single base substitution G T downstream_gene_variant PACA-CA 7 158750960 158750960 single base substitution T C downstream_gene_variant PACA-CA 7 158751875 158751875 single base substitution G A downstream_gene_variant PACA-CA 7 158752686 158752686 single base substitution C A downstream_gene_variant PACA-CA 7 158753339 158753339 single base substitution C G downstream_gene_variant PAEN-AU 7 158669186 158669186 single base substitution C T downstream_gene_variant PAEN-AU 7 158669186 158669186 single base substitution C T intron_variant PAEN-AU 7 158669186 158669186 single base substitution C T upstream_gene_variant PAEN-AU 7 158670990 158670990 single base substitution A G intron_variant PAEN-AU 7 158670990 158670990 single base substitution A G upstream_gene_variant PAEN-AU 7 158674645 158674645 single base substitution G A intron_variant PAEN-AU 7 158674645 158674645 single base substitution G A upstream_gene_variant PAEN-AU 7 158676635 158676635 single base substitution G A intron_variant PAEN-AU 7 158676635 158676635 single base substitution G A upstream_gene_variant PAEN-AU 7 158683002 158683002 single base substitution C G intron_variant PAEN-AU 7 158683470 158683470 single base substitution G T intron_variant PAEN-AU 7 158707893 158707893 single base substitution C G intron_variant PAEN-AU 7 158708000 158708000 single base substitution G T intron_variant PAEN-AU 7 158709053 158709053 single base substitution A G intron_variant PAEN-AU 7 158709665 158709665 single base substitution C T intron_variant PAEN-AU 7 158752582 158752582 single base substitution G T downstream_gene_variant PAEN-IT 7 158646242 158646242 single base substitution G A upstream_gene_variant PAEN-IT 7 158657623 158657623 single base substitution C A intron_variant PAEN-IT 7 158657623 158657623 single base substitution C A upstream_gene_variant PAEN-IT 7 158683293 158683293 single base substitution T C intron_variant PAEN-IT 7 158698529 158698529 single base substitution C T intron_variant PAEN-IT 7 158711227 158711227 single base substitution C T intron_variant PBCA-DE 7 158656632 158656632 single base substitution T G intron_variant PBCA-DE 7 158658481 158658481 single base substitution T C intron_variant PBCA-DE 7 158658481 158658481 single base substitution T C upstream_gene_variant PBCA-DE 7 158659693 158659693 single base substitution C T intron_variant PBCA-DE 7 158659693 158659693 single base substitution C T upstream_gene_variant PBCA-DE 7 158663208 158663208 insertion of <=200bp - TAATTTTT intron_variant PBCA-DE 7 158670876 158670876 single base substitution A G intron_variant PBCA-DE 7 158670876 158670876 single base substitution A G upstream_gene_variant PBCA-DE 7 158671032 158671032 single base substitution A G intron_variant PBCA-DE 7 158671032 158671032 single base substitution A G upstream_gene_variant PBCA-DE 7 158671157 158671157 single base substitution A T intron_variant PBCA-DE 7 158671157 158671157 single base substitution A T upstream_gene_variant PBCA-DE 7 158671237 158671237 single base substitution C A intron_variant PBCA-DE 7 158671237 158671237 single base substitution C A upstream_gene_variant PBCA-DE 7 158671249 158671249 single base substitution T C intron_variant PBCA-DE 7 158671249 158671249 single base substitution T C upstream_gene_variant PBCA-DE 7 158671391 158671391 single base substitution G C intron_variant PBCA-DE 7 158671391 158671391 single base substitution G C upstream_gene_variant PBCA-DE 7 158671652 158671652 single base substitution A G intron_variant PBCA-DE 7 158671652 158671652 single base substitution A G upstream_gene_variant PBCA-DE 7 158672272 158672272 single base substitution C G intron_variant PBCA-DE 7 158672272 158672272 single base substitution C G upstream_gene_variant PBCA-DE 7 158681160 158681161 deletion of <=200bp AT - intron_variant PBCA-DE 7 158699952 158699952 single base substitution C T intron_variant PBCA-DE 7 158701900 158701900 single base substitution T C intron_variant PBCA-DE 7 158703111 158703111 single base substitution G A intron_variant PBCA-DE 7 158709731 158709732 deletion of <=200bp TG - intron_variant PBCA-DE 7 158721547 158721547 single base substitution G A intron_variant PBCA-DE 7 158728436 158728436 single base substitution A G intron_variant PBCA-DE 7 158731501 158731501 insertion of <=200bp - A intron_variant PBCA-DE 7 158731954 158731954 insertion of <=200bp - A intron_variant PBCA-DE 7 158738389 158738389 single base substitution G A 3_prime_UTR_variant PBCA-DE 7 158738389 158738389 single base substitution G A exon_variant PBCA-DE 7 158738389 158738389 single base substitution G A synonymous_variant A1040A 3120G>A PBCA-DE 7 158739457 158739457 single base substitution C T downstream_gene_variant PBCA-DE 7 158739457 158739457 single base substitution C T intron_variant PBCA-DE 7 158741905 158741905 single base substitution G A downstream_gene_variant PBCA-DE 7 158741905 158741905 single base substitution G A intron_variant PBCA-DE 7 158745897 158745897 single base substitution G A intron_variant PBCA-DE 7 158750746 158750746 single base substitution T A downstream_gene_variant PBCA-DE 7 158750852 158750852 single base substitution T A downstream_gene_variant PRAD-CA 7 158648528 158648528 single base substitution A T upstream_gene_variant PRAD-CA 7 158659953 158659953 single base substitution T C intron_variant PRAD-CA 7 158659953 158659953 single base substitution T C upstream_gene_variant PRAD-CA 7 158707777 158707777 single base substitution G A intron_variant PRAD-CA 7 158708281 158708281 single base substitution G C intron_variant PRAD-CA 7 158743521 158743521 single base substitution T C downstream_gene_variant PRAD-CA 7 158743521 158743521 single base substitution T C intron_variant PRAD-CA 7 158745822 158745822 single base substitution C T intron_variant PRAD-CA 7 158745908 158745908 single base substitution A C intron_variant PRAD-CA 7 158752656 158752656 single base substitution C G downstream_gene_variant PRAD-CA 7 158752686 158752686 single base substitution C A downstream_gene_variant PRAD-CA 7 158752711 158752711 single base substitution C T downstream_gene_variant PRAD-UK 7 158666659 158666659 insertion of <=200bp - C downstream_gene_variant PRAD-UK 7 158666659 158666659 insertion of <=200bp - C intron_variant PRAD-UK 7 158674630 158674630 single base substitution C T intron_variant PRAD-UK 7 158674630 158674630 single base substitution C T upstream_gene_variant PRAD-UK 7 158675994 158675994 single base substitution C T intron_variant PRAD-UK 7 158675994 158675994 single base substitution C T upstream_gene_variant PRAD-UK 7 158681501 158681501 single base substitution T C intron_variant PRAD-UK 7 158695149 158695149 single base substitution A T exon_variant PRAD-UK 7 158695149 158695149 single base substitution A T missense_variant E407V 1220A>T PRAD-UK 7 158702208 158702208 single base substitution G A intron_variant PRAD-UK 7 158709719 158709719 single base substitution A G intron_variant PRAD-UK 7 158709742 158709742 single base substitution G T intron_variant PRAD-UK 7 158717371 158717371 single base substitution T G intron_variant PRAD-UK 7 158729158 158729158 single base substitution G A intron_variant PRAD-UK 7 158731954 158731954 insertion of <=200bp - A intron_variant PRAD-UK 7 158734998 158734998 single base substitution G C intron_variant PRAD-UK 7 158737054 158737054 single base substitution C A intron_variant PRAD-UK 7 158749204 158749204 single base substitution C T intron_variant PRAD-US 7 158716310 158716310 single base substitution G A exon_variant PRAD-US 7 158716310 158716310 single base substitution G A missense_variant G715R 2143G>A READ-US 7 158672483 158672483 single base substitution C A exon_variant READ-US 7 158672483 158672483 single base substitution C A synonymous_variant R228R 682C>A READ-US 7 158672483 158672483 single base substitution C A upstream_gene_variant READ-US 7 158698701 158698701 single base substitution G A exon_variant READ-US 7 158698701 158698701 single base substitution G A missense_variant R460K 1379G>A RECA-EU 7 158655129 158655129 single base substitution G C intron_variant RECA-EU 7 158664874 158664874 single base substitution G A downstream_gene_variant RECA-EU 7 158664874 158664874 single base substitution G A intron_variant RECA-EU 7 158682700 158682700 single base substitution A C intron_variant RECA-EU 7 158685468 158685468 single base substitution C G intron_variant RECA-EU 7 158686156 158686156 single base substitution C A intron_variant RECA-EU 7 158693867 158693867 single base substitution T A intron_variant RECA-EU 7 158707824 158707824 single base substitution G C intron_variant RECA-EU 7 158708115 158708115 single base substitution G A intron_variant RECA-EU 7 158708733 158708733 single base substitution G C intron_variant RECA-EU 7 158716051 158716051 single base substitution G T intron_variant RECA-EU 7 158716550 158716550 single base substitution G A intron_variant RECA-EU 7 158721094 158721094 single base substitution G T intron_variant RECA-EU 7 158748769 158748769 single base substitution A G intron_variant SKCA-BR 7 158646287 158646287 single base substitution G A upstream_gene_variant SKCA-BR 7 158646715 158646715 insertion of <=200bp - TG upstream_gene_variant SKCA-BR 7 158647190 158647190 single base substitution C G upstream_gene_variant SKCA-BR 7 158648574 158648574 single base substitution C A upstream_gene_variant SKCA-BR 7 158650712 158650712 single base substitution C T intron_variant SKCA-BR 7 158651156 158651156 single base substitution A T intron_variant SKCA-BR 7 158652785 158652785 single base substitution C T intron_variant SKCA-BR 7 158653842 158653842 single base substitution T C intron_variant SKCA-BR 7 158654762 158654762 single base substitution G A intron_variant SKCA-BR 7 158656476 158656476 single base substitution C G intron_variant SKCA-BR 7 158656788 158656788 single base substitution A C intron_variant SKCA-BR 7 158659694 158659694 single base substitution A T intron_variant SKCA-BR 7 158659694 158659694 single base substitution A T upstream_gene_variant SKCA-BR 7 158659698 158659698 single base substitution G T intron_variant SKCA-BR 7 158659698 158659698 single base substitution G T upstream_gene_variant SKCA-BR 7 158659732 158659732 single base substitution C A intron_variant SKCA-BR 7 158659732 158659732 single base substitution C A upstream_gene_variant SKCA-BR 7 158661213 158661213 single base substitution G A intron_variant SKCA-BR 7 158661213 158661213 single base substitution G A upstream_gene_variant SKCA-BR 7 158662200 158662200 single base substitution T G intron_variant SKCA-BR 7 158662698 158662698 single base substitution T C intron_variant SKCA-BR 7 158663207 158663207 insertion of <=200bp - CTAATTTTT intron_variant SKCA-BR 7 158668383 158668383 single base substitution T G downstream_gene_variant SKCA-BR 7 158668383 158668383 single base substitution T G intron_variant SKCA-BR 7 158668383 158668383 single base substitution T G upstream_gene_variant SKCA-BR 7 158671157 158671157 single base substitution A T intron_variant SKCA-BR 7 158671157 158671157 single base substitution A T upstream_gene_variant SKCA-BR 7 158671766 158671766 single base substitution G A intron_variant SKCA-BR 7 158671766 158671766 single base substitution G A upstream_gene_variant SKCA-BR 7 158674175 158674175 single base substitution C T intron_variant SKCA-BR 7 158674175 158674175 single base substitution C T upstream_gene_variant SKCA-BR 7 158675564 158675564 insertion of <=200bp - CT intron_variant SKCA-BR 7 158675564 158675564 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 7 158680746 158680746 single base substitution C T intron_variant SKCA-BR 7 158683431 158683431 single base substitution A T intron_variant SKCA-BR 7 158685866 158685866 single base substitution C T intron_variant SKCA-BR 7 158686515 158686515 insertion of <=200bp - ATCATACCGTATG intron_variant SKCA-BR 7 158686799 158686799 single base substitution C A intron_variant SKCA-BR 7 158686803 158686803 single base substitution T C intron_variant SKCA-BR 7 158686815 158686815 single base substitution C T intron_variant SKCA-BR 7 158687577 158687577 single base substitution C T intron_variant SKCA-BR 7 158703356 158703356 single base substitution T C intron_variant SKCA-BR 7 158705469 158705469 single base substitution C T intron_variant SKCA-BR 7 158706189 158706189 single base substitution C T intron_variant SKCA-BR 7 158707743 158707781 deletion of <=200bp CGCTAGTTGAGATTAAGGATGATTGTGAAACCTCGACAT - intron_variant SKCA-BR 7 158707747 158707747 single base substitution A G intron_variant SKCA-BR 7 158707781 158707781 single base substitution T C intron_variant SKCA-BR 7 158707946 158707946 single base substitution A G intron_variant SKCA-BR 7 158708000 158708000 single base substitution G C intron_variant SKCA-BR 7 158708015 158708015 single base substitution C G intron_variant SKCA-BR 7 158708158 158708158 single base substitution G A intron_variant SKCA-BR 7 158708266 158708266 single base substitution C T intron_variant SKCA-BR 7 158708374 158708374 single base substitution G C intron_variant SKCA-BR 7 158708581 158708581 single base substitution G C intron_variant SKCA-BR 7 158708834 158708834 single base substitution T C intron_variant SKCA-BR 7 158709026 158709026 single base substitution C G intron_variant SKCA-BR 7 158709094 158709099 deletion of <=200bp TCGACA - intron_variant SKCA-BR 7 158709122 158709122 single base substitution T C intron_variant SKCA-BR 7 158709642 158709642 single base substitution C G intron_variant SKCA-BR 7 158709741 158709741 single base substitution C T intron_variant SKCA-BR 7 158709777 158709777 single base substitution G A intron_variant SKCA-BR 7 158709973 158709973 single base substitution T C intron_variant SKCA-BR 7 158709983 158709983 single base substitution A G intron_variant SKCA-BR 7 158710083 158710083 single base substitution T C intron_variant SKCA-BR 7 158711553 158711553 single base substitution C T exon_variant SKCA-BR 7 158711553 158711553 single base substitution C T synonymous_variant F638F 1914C>T SKCA-BR 7 158712638 158712638 single base substitution C T intron_variant SKCA-BR 7 158712838 158712838 single base substitution A G intron_variant SKCA-BR 7 158712844 158712844 single base substitution T C intron_variant SKCA-BR 7 158719054 158719054 single base substitution T C intron_variant SKCA-BR 7 158721056 158721056 single base substitution C T intron_variant SKCA-BR 7 158721439 158721439 single base substitution A G intron_variant SKCA-BR 7 158724445 158724445 single base substitution A C intron_variant SKCA-BR 7 158724445 158724445 single base substitution A C upstream_gene_variant SKCA-BR 7 158727303 158727303 single base substitution G T intron_variant SKCA-BR 7 158727620 158727620 single base substitution G A intron_variant SKCA-BR 7 158728609 158728609 single base substitution A G intron_variant SKCA-BR 7 158729122 158729122 single base substitution C T intron_variant SKCA-BR 7 158729167 158729167 single base substitution C T intron_variant SKCA-BR 7 158730313 158730313 single base substitution G A intron_variant SKCA-BR 7 158733169 158733169 single base substitution C T intron_variant SKCA-BR 7 158734866 158734866 single base substitution G A intron_variant SKCA-BR 7 158742776 158742777 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 7 158742776 158742777 deletion of <=200bp TA - intron_variant SKCA-BR 7 158743264 158743264 single base substitution A C downstream_gene_variant SKCA-BR 7 158743264 158743264 single base substitution A C intron_variant SKCA-BR 7 158745141 158745141 single base substitution C T intron_variant SKCA-BR 7 158746686 158746686 single base substitution C A intron_variant SKCA-BR 7 158750702 158750702 insertion of <=200bp - TCTGCCCGTCAGCCACAGCCACACCCTAGGTCGTGGAGAGGGTGTGGTCTGCAC downstream_gene_variant SKCA-BR 7 158750773 158750773 single base substitution A C downstream_gene_variant SKCA-BR 7 158750777 158750777 single base substitution G A downstream_gene_variant SKCA-BR 7 158750781 158750781 single base substitution C T downstream_gene_variant SKCA-BR 7 158750799 158750799 single base substitution A T downstream_gene_variant SKCA-BR 7 158750852 158750852 single base substitution T A downstream_gene_variant SKCA-BR 7 158752596 158752626 deletion of <=200bp GCTGTGTTTGCAGAAGGGTTCCGTTGGAGCC - downstream_gene_variant SKCA-BR 7 158754232 158754232 single base substitution C T downstream_gene_variant SKCM-US 7 158663875 158663875 single base substitution G A missense_variant E38K 112G>A SKCM-US 7 158663875 158663875 single base substitution G A missense_variant E48K 142G>A SKCM-US 7 158663908 158663908 single base substitution C T missense_variant L49F 145C>T SKCM-US 7 158663908 158663908 single base substitution C T missense_variant L59F 175C>T SKCM-US 7 158663943 158663943 single base substitution C T synonymous_variant P60P 180C>T SKCM-US 7 158663943 158663943 single base substitution C T synonymous_variant P70P 210C>T SKCM-US 7 158672385 158672385 single base substitution G A missense_variant G195E 584G>A SKCM-US 7 158672385 158672385 single base substitution G A upstream_gene_variant SKCM-US 7 158694445 158694445 single base substitution G A exon_variant SKCM-US 7 158694445 158694445 single base substitution G A missense_variant E359K 1075G>A SKCM-US 7 158695278 158695278 single base substitution C T exon_variant SKCM-US 7 158695278 158695278 single base substitution C T missense_variant P450L 1349C>T SKCM-US 7 158704297 158704297 single base substitution C T exon_variant SKCM-US 7 158704297 158704297 single base substitution C T missense_variant S506F 1517C>T SKCM-US 7 158704353 158704353 deletion of <=200bp A - exon_variant SKCM-US 7 158704353 158704353 deletion of <=200bp A - frameshift_variant K525 SKCM-US 7 158704364 158704364 single base substitution C A exon_variant SKCM-US 7 158704364 158704364 single base substitution C A synonymous_variant T528T 1584C>A SKCM-US 7 158715154 158715154 single base substitution C T exon_variant SKCM-US 7 158715154 158715154 single base substitution C T intron_variant SKCM-US 7 158715154 158715154 single base substitution C T missense_variant P670S 2008C>T SKCM-US 7 158716371 158716371 single base substitution C T exon_variant SKCM-US 7 158716371 158716371 single base substitution C T missense_variant S735F 2204C>T SKCM-US 7 158718935 158718935 single base substitution C T exon_variant SKCM-US 7 158718935 158718935 single base substitution C T missense_variant S772L 2315C>T SKCM-US 7 158723148 158723148 single base substitution C T splice_region_variant SKCM-US 7 158723148 158723148 single base substitution C T upstream_gene_variant STAD-US 7 158695154 158695154 single base substitution C A exon_variant STAD-US 7 158695154 158695154 single base substitution C A missense_variant P409T 1225C>A STAD-US 7 158695164 158695164 deletion of <=200bp A - exon_variant STAD-US 7 158695164 158695164 deletion of <=200bp A - frameshift_variant Q412 STAD-US 7 158711457 158711457 single base substitution T C exon_variant STAD-US 7 158711457 158711457 single base substitution T C synonymous_variant D606D 1818T>C STAD-US 7 158711469 158711469 single base substitution T C exon_variant STAD-US 7 158711469 158711469 single base substitution T C synonymous_variant A610A 1830T>C STAD-US 7 158715184 158715184 single base substitution G A exon_variant STAD-US 7 158715184 158715184 single base substitution G A intron_variant STAD-US 7 158715184 158715184 single base substitution G A missense_variant V680M 2038G>A STAD-US 7 158716414 158716414 single base substitution G A exon_variant STAD-US 7 158716414 158716414 single base substitution G A synonymous_variant T749T 2247G>A STAD-US 7 158726880 158726880 single base substitution G A 3_prime_UTR_variant STAD-US 7 158726880 158726880 single base substitution G A exon_variant STAD-US 7 158726880 158726880 single base substitution G A synonymous_variant L869L 2607G>A STAD-US 7 158726880 158726880 single base substitution G A upstream_gene_variant STAD-US 7 158734693 158734693 single base substitution G A 3_prime_UTR_variant STAD-US 7 158734693 158734693 single base substitution G A exon_variant STAD-US 7 158734693 158734693 single base substitution G A synonymous_variant T952T 2856G>A STAD-US 7 158734830 158734830 deletion of <=200bp C - 3_prime_UTR_variant STAD-US 7 158734830 158734830 deletion of <=200bp C - exon_variant STAD-US 7 158734830 158734830 deletion of <=200bp C - frameshift_variant S998 STAD-US 7 158738439 158738439 single base substitution C A 3_prime_UTR_variant STAD-US 7 158738439 158738439 single base substitution C A exon_variant STAD-US 7 158738439 158738439 single base substitution C A missense_variant A1057D 3170C>A STAD-US 7 158738447 158738447 single base substitution C T 3_prime_UTR_variant STAD-US 7 158738447 158738447 single base substitution C T exon_variant STAD-US 7 158738447 158738447 single base substitution C T missense_variant P1060S 3178C>T THCA-SA 7 158698716 158698716 single base substitution G A exon_variant THCA-SA 7 158698716 158698716 single base substitution G A missense_variant G465E 1394G>A UCEC-US 7 158663888 158663888 single base substitution G A missense_variant R42H 125G>A UCEC-US 7 158663888 158663888 single base substitution G A missense_variant R52H 155G>A UCEC-US 7 158663944 158663944 single base substitution G A missense_variant D61N 181G>A UCEC-US 7 158663944 158663944 single base substitution G A missense_variant D71N 211G>A UCEC-US 7 158669320 158669320 single base substitution G A missense_variant E171K 511G>A UCEC-US 7 158669320 158669320 single base substitution G A upstream_gene_variant UCEC-US 7 158669357 158669357 single base substitution G T missense_variant R183I 548G>T UCEC-US 7 158669357 158669357 single base substitution G T upstream_gene_variant UCEC-US 7 158695262 158695262 single base substitution G T exon_variant UCEC-US 7 158695262 158695262 single base substitution G T stop_gained E445* 1333G>T UCEC-US 7 158698777 158698777 single base substitution G A exon_variant UCEC-US 7 158698777 158698777 single base substitution G A synonymous_variant K485K 1455G>A UCEC-US 7 158704342 158704342 single base substitution G T exon_variant UCEC-US 7 158704342 158704342 single base substitution G T missense_variant R521I 1562G>T UCEC-US 7 158705694 158705694 single base substitution G A exon_variant UCEC-US 7 158705694 158705694 single base substitution G A missense_variant E537K 1609G>A UCEC-US 7 158715071 158715071 single base substitution G A exon_variant UCEC-US 7 158715071 158715071 single base substitution G A intron_variant UCEC-US 7 158715071 158715071 single base substitution G A missense_variant R642Q 1925G>A UCEC-US 7 158718905 158718905 single base substitution G A exon_variant UCEC-US 7 158718905 158718905 single base substitution G A missense_variant R762Q 2285G>A UCEC-US 7 158718993 158718993 single base substitution T C splice_donor_variant UCEC-US 7 158719713 158719713 single base substitution G A 3_prime_UTR_variant UCEC-US 7 158719713 158719713 single base substitution G A exon_variant UCEC-US 7 158719713 158719713 single base substitution G A missense_variant A822T 2464G>A UCEC-US 7 158726897 158726897 single base substitution A G 3_prime_UTR_variant UCEC-US 7 158726897 158726897 single base substitution A G exon_variant UCEC-US 7 158726897 158726897 single base substitution A G missense_variant H875R 2624A>G UCEC-US 7 158727197 158727197 single base substitution T C 3_prime_UTR_variant UCEC-US 7 158727197 158727197 single base substitution T C exon_variant UCEC-US 7 158727197 158727197 single base substitution T C missense_variant V912A 2735T>C UCEC-US 7 158734723 158734723 single base substitution G C 3_prime_UTR_variant UCEC-US 7 158734723 158734723 single base substitution G C exon_variant UCEC-US 7 158734723 158734723 single base substitution G C missense_variant W962C 2886G>C UCEC-US 7 158734740 158734740 single base substitution C T 3_prime_UTR_variant UCEC-US 7 158734740 158734740 single base substitution C T exon_variant UCEC-US 7 158734740 158734740 single base substitution C T missense_variant A968V 2903C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B0-5712-01 COSM1496545 c.1694T>A p.V565E Substitution - Missense 7:158913088-158913088 + LUAD-RT-S01703 COSM379750 c.2166C>T p.V722V Substitution - coding silent 7:158923642-158923642 + BD121T COSM5515237 c.20G>T p.R7I Substitution - Missense 7:158869859-158869859 + S00472 COSM5657979 c.214delG p.E72fs*33 Deletion - Frameshift 7:158871286-158871286 + H522 COSM1197012 c.389G>A p.R130Q Substitution - Missense 7:158871461-158871461 + BN02 COSM1622648 c.120G>T p.K40N Substitution - Missense 7:158871192-158871192 + TCGA-DM-A282-01 COSM1449723 c.1573delA p.N527fs*23 Deletion - Frameshift 7:158911662-158911662 + TCGA-34-5929-01 COSM745674 c.2434-1G>A p.? Unknown 7:158926991-158926991 + TCGA-AP-A056-01 COSM1088024 c.1925G>A p.R642Q Substitution - Missense 7:158922380-158922380 + T204 COSM4741012 c.563G>A p.R188Q Substitution - Missense 7:158876681-158876681 + 587298 COSM1232621 c.251G>T p.R84M Substitution - Missense 7:158871323-158871323 + TCGA-AZ-6598-01 COSM1449723 c.1573delA p.N527fs*23 Deletion - Frameshift 7:158911662-158911662 + TCGA-29-1766-01 COSM1329917 c.1921+1G>T p.? Unknown 7:158918870-158918870 + CHC892T COSM4959185 c.427C>T p.L143L Substitution - coding silent 7:158871499-158871499 + PD8609a COSM5795308 c.573+7G>A p.? Unknown 7:158876698-158876698 + CSCC-27-T COSM745675 c.2340C>T p.S780S Substitution - coding silent 7:158926269-158926269 + LUAD-E00897 COSM364774 c.796C>T p.H266Y Substitution - Missense 7:158879906-158879906 + HCC31 COSM1622650 c.884G>T p.G295V Substitution - Missense 7:158884568-158884568 + SNU-C2B COSM4615364 c.1235delA p.K414fs*22 Deletion - Frameshift 7:158902473-158902473 + TCGA-A8-A097-01 COSM452805 c.2529G>C p.L843L Substitution - coding silent 7:158930498-158930498 + LUAD-S01405 COSM399217 c.2686G>T p.A896S Substitution - Missense 7:158934457-158934457 + CHC1040T COSM4799535 c.94G>C p.E32Q Substitution - Missense 7:158871166-158871166 + LUAD-RT-S01709 COSM380007 c.114G>C p.E38D Substitution - Missense 7:158871186-158871186 + 2492711 COSM5607207 c.2117C>T p.P706L Substitution - Missense 7:158923593-158923593 + PD13625a COSM5780259 c.705A>T p.E235D Substitution - Missense 7:158879815-158879815 + TCGA-AA-3715-01 COSM270550 c.2794G>A p.G932R Substitution - Missense 7:158941940-158941940 + PD24325a COSM5795347 c.955A>T p.R319W Substitution - Missense 7:158887040-158887040 + T1154 COSM4615364 c.1235delA p.K414fs*22 Deletion - Frameshift 7:158902473-158902473 + U87 COSM87901 c.312_314delGAA p.K105delK Deletion - In frame 7:158871384-158871386 + HF-23896 COSM1197715 c.3047G>T p.G1016V Substitution - Missense 7:158945625-158945625 + SC_9027 COSM5551696 c.46G>C p.D16H Substitution - Missense 7:158869885-158869885 + TCGA-A6-3809-01 COSM1449723 c.1573delA p.N527fs*23 Deletion - Frameshift 7:158911662-158911662 + TCGA-AX-A0J0-01 COSM1088029 c.2735T>C p.V912A Substitution - Missense 7:158934506-158934506 + LC_S6 COSM1190797 c.31delG p.D11fs*94 Deletion - Frameshift 7:158869870-158869870 + TCGA-B5-A11E-01 COSM1088018 c.548G>T p.R183I Substitution - Missense 7:158876666-158876666 + BHY COSM4592411 c.403C>T p.R135W Substitution - Missense 7:158871475-158871475 + Gp2D COSM3306412 c.1719T>A p.D573E Substitution - Missense 7:158914249-158914249 + sysucc-1370T COSM5472386 c.1677G>A p.P559P Substitution - coding silent 7:158913071-158913071 + TCGA-D3-A3C8-06 COSM3636876 c.1349C>T p.P450L Substitution - Missense 7:158902587-158902587 + T3724 COSM4741014 c.882T>C p.N294N Substitution - coding silent 7:158884566-158884566 + TCGA-GN-A26C-01 COSM3306395 c.1075G>A p.E359K Substitution - Missense 7:158901754-158901754 + TCGA-EJ-A65M-01 COSM4392414 c.2143G>A p.G715R Substitution - Missense 7:158923619-158923619 + TCGA-AP-A051-01 COSM1088031 c.2903C>T p.A968V Substitution - Missense 7:158942049-158942049 + 2521243 COSM5886555 c.2116C>T p.P706S Substitution - Missense 7:158923592-158923592 + YUKAT COSM5407114 c.2149G>A p.A717T Substitution - Missense 7:158923625-158923625 + TCGA-GV-A3JZ-01 COSM1312923 c.746C>T p.S249F Substitution - Missense 7:158879856-158879856 + T3436 COSM4741013 c.692G>A p.S231N Substitution - Missense 7:158879802-158879802 + I2L-P19Ta-Tumor-Organoid COSM5357886 c.1703-10delT p.? Unknown 7:158914223-158914223 + 2492714 COSM5607207 c.2117C>T p.P706L Substitution - Missense 7:158923593-158923593 + TCGA-AP-A0LM-01 COSM1088014 c.125G>A p.R42H Substitution - Missense 7:158871197-158871197 + TCGA-EE-A183-06 COSM3636877 c.1517C>T p.S506F Substitution - Missense 7:158911606-158911606 + RK237_C01 COSM4779795 c.2464G>T p.A822S Substitution - Missense 7:158927022-158927022 + TCGA-ER-A19E-06 COSM3636873 c.145C>T p.L49F Substitution - Missense 7:158871217-158871217 + TCGA-AN-A0AK-01 COSM3832436 c.682C>T p.R228* Substitution - Nonsense 7:158879792-158879792 + TCGA-ER-A19P-06 COSM3636878 c.1584C>A p.T528T Substitution - coding silent 7:158911673-158911673 + 2492713 COSM5607207 c.2117C>T p.P706L Substitution - Missense 7:158923593-158923593 + PTC_212 COSM5958350 c.1394G>A p.G465E Substitution - Missense 7:158906025-158906025 + T3262 COSM4741017 c.2874C>T p.T958T Substitution - coding silent 7:158942020-158942020 + TCGA-BH-A0B6-01 COSM3832438 c.2391C>T p.F797F Substitution - coding silent 7:158926421-158926421 + CHC1052T COSM217407 c.2261G>T p.G754V Substitution - Missense 7:158926190-158926190 + TCGA-AP-A056-01 COSM1088025 c.2285G>A p.R762Q Substitution - Missense 7:158926214-158926214 + HCT15 COSM1449723 c.1573delA p.N527fs*23 Deletion - Frameshift 7:158911662-158911662 + LUAD-S01467 COSM399556 c.2666C>T p.T889I Substitution - Missense 7:158934437-158934437 + TCGA-AU-6004-01 COSM1449723 c.1573delA p.N527fs*23 Deletion - Frameshift 7:158911662-158911662 + TCGA-G4-6628-01 COSM1449716 c.249G>A p.E83E Substitution - coding silent 7:158871321-158871321 + SW48 COSM3306402 c.1446G>A p.Q482Q Substitution - coding silent 7:158906077-158906077 + SC_9008 COSM5357886 c.1703-10delT p.? Unknown 7:158914223-158914223 + TCGA-CG-4442-01 COSM3879909 c.1818T>C p.D606D Substitution - coding silent 7:158918766-158918766 + PD8964a COSM5782251 c.3129G>A p.E1043E Substitution - coding silent 7:158945707-158945707 + T2197 COSM4741016 c.2868G>A p.A956A Substitution - coding silent 7:158942014-158942014 + 66 COSM4472982 c.1819C>T p.R607C Substitution - Missense 7:158918767-158918767 + 35M COSM5583046 c.2617C>T p.P873S Substitution - Missense 7:158934199-158934199 + 8067235 COSM3785054 c.199A>G p.R67G Substitution - Missense 7:158871271-158871271 + TCGA-DT-5265-01 COSM5077333 c.2318C>T p.T773M Substitution - Missense 7:158926247-158926247 + TCGA-60-2724-01 COSM745679 c.79T>C p.S27P Substitution - Missense 7:158871151-158871151 + 440 COSM4434480 c.3190C>G p.L1064V Substitution - Missense 7:158945768-158945768 + TCGA-D3-A1QB-06 COSM3636879 c.2008C>T p.P670S Substitution - Missense 7:158922463-158922463 + TCGA-EI-6510-01 COSM1568488 c.682C>A p.R228R Substitution - coding silent 7:158879792-158879792 + TCGA-21-1076-01 COSM745672 c.3044G>C p.G1015A Substitution - Missense 7:158945622-158945622 + TCGA-DK-A3X1-01 COSM3778291 c.136G>A p.E46K Substitution - Missense 7:158871208-158871208 + SS6003111 COSM5033060 c.779G>A p.R260Q Substitution - Missense 7:158879889-158879889 + TCGA-D7-A4Z0-01 COSM3879908 c.1225C>A p.P409T Substitution - Missense 7:158902463-158902463 + DLD1 COSM1449723 c.1573delA p.N527fs*23 Deletion - Frameshift 7:158911662-158911662 + T3024 COSM4615364 c.1235delA p.K414fs*22 Deletion - Frameshift 7:158902473-158902473 + TCGA-CK-6746-01 COSM5155635 c.69+6T>C p.? Unknown 7:158869914-158869914 + ESCC-153T COSM3942141 c.1483C>T p.R495W Substitution - Missense 7:158911572-158911572 + TCGA-AA-3510-01 COSM1449724 c.2121G>T p.L707F Substitution - Missense 7:158923597-158923597 + S00022 COSM3306380 c.129G>A p.K43K Substitution - coding silent 7:158871201-158871201 + YULETA COSM3636874 c.584G>A p.G195E Substitution - Missense 7:158879694-158879694 + TCGA-BR-4370-01 COSM3879916 c.3178C>T p.P1060S Substitution - Missense 7:158945756-158945756 + CCK81 COSM1449723 c.1573delA p.N527fs*23 Deletion - Frameshift 7:158911662-158911662 + Pat_06_B COSM5872371 c.1572_1573insA p.N527fs*10 Insertion - Frameshift 7:158911661-158911662 + PD22357a COSM5796097 c.3135C>G p.D1045E Substitution - Missense 7:158945713-158945713 + T3306 COSM4741015 c.1048G>A p.E350K Substitution - Missense 7:158891322-158891322 + CHC796T COSM4954131 c.1126G>A p.D376N Substitution - Missense 7:158901805-158901805 + TCGA-AZ-4315-01 COSM1449726 c.2398G>A p.A800T Substitution - Missense 7:158926428-158926428 + 4_RESISTANT COSM1449723 c.1573delA p.N527fs*23 Deletion - Frameshift 7:158911662-158911662 + PD4843a COSM165583 c.2161G>A p.V721I Substitution - Missense 7:158923637-158923637 + TCGA-GN-A266-06 COSM3636880 c.2315C>T p.S772L Substitution - Missense 7:158926244-158926244 + LUAD-E00934 COSM393769 c.2811C>G p.H937Q Substitution - Missense 7:158941957-158941957 + CHC892T COSM4794378 c.2221G>A p.G741S Substitution - Missense 7:158923697-158923697 + CRC-19T COSM5482108 c.2099C>T p.T700M Substitution - Missense 7:158923575-158923575 + BRC32 COSM5026872 c.2905G>A p.V969M Substitution - Missense 7:158942051-158942051 + TCGA-CC-A7IJ-01 COSM4924482 c.2832G>C p.P944P Substitution - coding silent 7:158941978-158941978 + BN02T COSM1622648 c.120G>T p.K40N Substitution - Missense 7:158871192-158871192 + MB115PT COSM87901 c.312_314delGAA p.K105delK Deletion - In frame 7:158871384-158871386 + SNUH_G16_S1 COSM4004396 c.2371+4C>A p.? Unknown 7:158926304-158926304 + 0126_CRUK_PC_0126_T1_DNA COSM5421403 c.1220A>T p.E407V Substitution - Missense 7:158902458-158902458 + TCGA-AX-A05Z-01 COSM1088020 c.1333G>T p.E445* Substitution - Nonsense 7:158902571-158902571 + HCC1143 COSM51087 c.3154C>T p.L1052L Substitution - coding silent 7:158945732-158945732 + CHC433T COSM217406 c.936-2A>T p.? Unknown 7:158887019-158887019 + TCGA-CK-6746-01 COSM1449723 c.1573delA p.N527fs*23 Deletion - Frameshift 7:158911662-158911662 + TCGA-AP-A051-01 COSM1088027 c.2464G>A p.A822T Substitution - Missense 7:158927022-158927022 + LS180 COSM3306428 c.2420T>C p.V807A Substitution - Missense 7:158926450-158926450 + CSCC-15-T COSM4541656 c.3047G>A p.G1016D Substitution - Missense 7:158945625-158945625 + TCGA-10-0927-01 COSM78773 c.1570G>C p.G524R Substitution - Missense 7:158911659-158911659 + OSCC-GB_01060111 COSM4883017 c.2833C>A p.L945I Substitution - Missense 7:158941979-158941979 + PD4203a COSM165584 c.2652C>T p.L884L Substitution - coding silent 7:158934423-158934423 + TCGA-CA-6718-01 COSM5145613 c.214G>A p.E72K Substitution - Missense 7:158871286-158871286 + YUKAT COSM5407115 c.2663G>A p.G888D Substitution - Missense 7:158934434-158934434 + TCGA-FU-A3HZ-01 COSM4840303 c.59A>C p.K20T Substitution - Missense 7:158869898-158869898 + ESCC-098T COSM3942142 c.2380G>A p.G794S Substitution - Missense 7:158926410-158926410 + ESCC_25 COSM5626952 c.933C>G p.S311R Substitution - Missense 7:158884617-158884617 + TCGA-AX-A05Z-01 COSM1088023 c.1609G>A p.E537K Substitution - Missense 7:158913003-158913003 + TCGA-AZ-6598-01 COSM4615364 c.1235delA p.K414fs*22 Deletion - Frameshift 7:158902473-158902473 + HCT8 COSM1449723 c.1573delA p.N527fs*23 Deletion - Frameshift 7:158911662-158911662 + LUAD-CHTN-Z4716A COSM362602 c.2880G>T p.L960L Substitution - coding silent 7:158942026-158942026 + 2492712 COSM5607207 c.2117C>T p.P706L Substitution - Missense 7:158923593-158923593 + pfg118T COSM3942141 c.1483C>T p.R495W Substitution - Missense 7:158911572-158911572 + TCGA-BR-4201-01 COSM3879914 c.2856G>A p.T952T Substitution - coding silent 7:158942002-158942002 + TCGA-AG-3898-01 COSM288993 c.582C>T p.Y194Y Substitution - coding silent 7:158879692-158879692 + CSCC-27-T COSM4472982 c.1819C>T p.R607C Substitution - Missense 7:158918767-158918767 + TCGA-NH-A5IV-01 COSM1449723 c.1573delA p.N527fs*23 Deletion - Frameshift 7:158911662-158911662 + TCGA-A8-A09N-01 COSM452803 c.858G>A p.E286E Substitution - coding silent 7:158879968-158879968 + 587342 COSM1232620 c.1218A>T p.E406D Substitution - Missense 7:158902456-158902456 + PD4596a COSM165582 c.1515C>G p.F505L Substitution - Missense 7:158911604-158911604 + TCGA-AO-A12G-01 COSM452804 c.2128T>C p.F710L Substitution - Missense 7:158923604-158923604 + LIM1899 COSM1449723 c.1573delA p.N527fs*23 Deletion - Frameshift 7:158911662-158911662 + CHC433T COSM217406 c.936-2A>T p.? Unknown 7:158887019-158887019 + CHC909T COSM4806364 c.2438T>C p.V813A Substitution - Missense 7:158926996-158926996 + TCGA-18-3409-01 COSM745677 c.917G>A p.R306K Substitution - Missense 7:158884601-158884601 + TCGA-BR-4361-01 COSM3879913 c.2607G>A p.L869L Substitution - coding silent 7:158934189-158934189 + 2250185 COSM5029408 c.1426C>G p.R476G Substitution - Missense 7:158906057-158906057 + CSCC-27-T COSM4474913 c.1951C>T p.R651* Substitution - Nonsense 7:158922406-158922406 + HCC2998 COSM3306431 c.2463C>T p.I821I Substitution - coding silent 7:158927021-158927021 + C99 COSM4620496 c.125G>C p.R42P Substitution - Missense 7:158871197-158871197 + TCGA-GN-A269-01 COSM3636872 c.112G>A p.E38K Substitution - Missense 7:158871184-158871184 + sysucc-311T COSM1088025 c.2285G>A p.R762Q Substitution - Missense 7:158926214-158926214 + TCGA-E9-A226-01 COSM1488443 c.2933A>G p.N978S Substitution - Missense 7:158942079-158942079 + T3724 COSM1449723 c.1573delA p.N527fs*23 Deletion - Frameshift 7:158911662-158911662 + TCGA-FW-A3R5-06 COSM3923284 c.180C>T p.P60P Substitution - coding silent 7:158871252-158871252 + S02275 COSM5682901 c.2542G>A p.D848N Substitution - Missense 7:158930511-158930511 + TCGA-HU-A4GQ-01 COSM3879915 c.3170C>A p.A1057D Substitution - Missense 7:158945748-158945748 + HCT15 COSM4633009 c.296G>C p.R99P Substitution - Missense 7:158871368-158871368 + Au8 COSM5607207 c.2117C>T p.P706L Substitution - Missense 7:158923593-158923593 + SNUH_G16_S1 COSM3685128 c.519T>C p.D173D Substitution - coding silent 7:158876637-158876637 + pfg008T COSM1449723 c.1573delA p.N527fs*23 Deletion - Frameshift 7:158911662-158911662 + 67 COSM5014779 c.721T>G p.S241A Substitution - Missense 7:158879831-158879831 + CHC1052T COSM217407 c.2261G>T p.G754V Substitution - Missense 7:158926190-158926190 + TCGA-EI-7002-01 COSM3431441 c.1379G>A p.R460K Substitution - Missense 7:158906010-158906010 + EGC15 COSM5062344 c.3201G>A p.*1067* Substitution - coding silent 7:158945779-158945779 + CSCC-16-T COSM1449725 c.2242G>A p.A748T Substitution - Missense 7:158923718-158923718 + TCGA-CU-A3YL-01 COSM3778292 c.160G>A p.E54K Substitution - Missense 7:158871232-158871232 + BRC47 COSM5026871 c.2532C>G p.I844M Substitution - Missense 7:158930501-158930501 + PS-352-5D COSM4424094 c.2064G>T p.G688G Substitution - coding silent 7:158922519-158922519 + TCGA-AZ-6601-01 COSM1449725 c.2242G>A p.A748T Substitution - Missense 7:158923718-158923718 + TCGA-22-5473-01 COSM745678 c.841A>G p.K281E Substitution - Missense 7:158879951-158879951 + TCGA-D8-A1J8-01 COSM3832437 c.1981C>A p.H661N Substitution - Missense 7:158922436-158922436 + TCGA-AZ-4615-01 COSM5140134 c.1137+5G>A p.? Unknown 7:158901821-158901821 + S01542 COSM5669763 c.2973T>C p.P991P Substitution - coding silent 7:158942119-158942119 + CHC796T COSM4954131 c.1126G>A p.D376N Substitution - Missense 7:158901805-158901805 + S02296 COSM5689623 c.2095-2A>G p.? Unknown 7:158923569-158923569 + CHC892T COSM4794378 c.2221G>A p.G741S Substitution - Missense 7:158923697-158923697 + HCC75 COSM3663063 c.2449C>T p.P817S Substitution - Missense 7:158927007-158927007 + CHC892T COSM4959185 c.427C>T p.L143L Substitution - coding silent 7:158871499-158871499 + TCGA-AP-A0LM-01 COSM1088015 c.181G>A p.D61N Substitution - Missense 7:158871253-158871253 + Gp5D COSM3306412 c.1719T>A p.D573E Substitution - Missense 7:158914249-158914249 + CSCC-31-T COSM3923284 c.180C>T p.P60P Substitution - coding silent 7:158871252-158871252 + CHC433T COSM217406 c.936-2A>T p.? Unknown 7:158887019-158887019 + BD124T COSM5492343 c.1586A>G p.K529R Substitution - Missense 7:158911675-158911675 + TCGA-AX-A0J1-01 COSM1088021 c.1455G>A p.K485K Substitution - coding silent 7:158906086-158906086 + U373 COSM87901 c.312_314delGAA p.K105delK Deletion - In frame 7:158871384-158871386 + 1946219 COSM1197715 c.3047G>T p.G1016V Substitution - Missense 7:158945625-158945625 + TCGA-BS-A0UF-01 COSM1088028 c.2624A>G p.H875R Substitution - Missense 7:158934206-158934206 + TCGA-DR-A0ZM-01 COSM461624 c.2508C>G p.V836V Substitution - coding silent 7:158930477-158930477 + RK163_C01 COSM3768297 c.986G>A p.R329Q Substitution - Missense 7:158887071-158887071 + pfg143T COSM4763159 c.1949C>T p.S650F Substitution - Missense 7:158922404-158922404 + CSCC-20-T COSM1449723 c.1573delA p.N527fs*23 Deletion - Frameshift 7:158911662-158911662 + TCGA-CA-6717-01 COSM1449727 c.2719A>C p.I907L Substitution - Missense 7:158934490-158934490 + TCGA-A6-4105-01 COSM1449728 c.2916G>T p.V972V Substitution - coding silent 7:158942062-158942062 + J73_T COSM3950288 c.991-7C>A p.? Unknown 7:158891258-158891258 + TCGA-FJ-A3Z7-01 COSM3778293 c.2365C>G p.Q789E Substitution - Missense 7:158926294-158926294 + SNUH_G76_S1 COSM4418737 c.2371+4C>T p.? Unknown 7:158926304-158926304 + TCGA-66-2768-01 COSM745675 c.2340C>T p.S780S Substitution - coding silent 7:158926269-158926269 + 8030032 COSM379750 c.2166C>T p.V722V Substitution - coding silent 7:158923642-158923642 + CAL33 COSM1088025 c.2285G>A p.R762Q Substitution - Missense 7:158926214-158926214 + TCGA-D1-A0ZO-01 COSM1088019 c.1226C>A p.P409H Substitution - Missense 7:158902464-158902464 + LOVO COSM1449723 c.1573delA p.N527fs*23 Deletion - Frameshift 7:158911662-158911662 + TCGA-DM-A285-01 COSM1449723 c.1573delA p.N527fs*23 Deletion - Frameshift 7:158911662-158911662 + HCC21T COSM1622649 c.136G>T p.E46* Substitution - Nonsense 7:158871208-158871208 + TCGA-CK-4951-01 COSM5152822 c.484C>T p.R162C Substitution - Missense 7:158871556-158871556 + LIM2551 COSM4644789 c.2506G>A p.V836I Substitution - Missense 7:158930475-158930475 + LS174T COSM3306428 c.2420T>C p.V807A Substitution - Missense 7:158926450-158926450 + TCGA-B2-5641-01 COSM485145 c.1374T>C p.P458P Substitution - coding silent 7:158906005-158906005 + TCGA-B5-A11I-01 COSM1088030 c.2886G>C p.W962C Substitution - Missense 7:158942032-158942032 + TCGA-EE-A181-06 COSM3636881 c.2488C>T p.L830L Substitution - coding silent 7:158930457-158930457 + TCGA-33-4538-01 COSM745673 c.2520T>C p.H840H Substitution - coding silent 7:158930489-158930489 + PTC-7C COSM5446547 c.313_315delAAG p.K105delK Deletion - In frame 7:158871385-158871387 + 03-P1004 COSM4587288 c.1628A>G p.D543G Substitution - Missense 7:158913022-158913022 + CRC-06T COSM5457320 c.985C>T p.R329W Substitution - Missense 7:158887070-158887070 + TCGA-DR-A0ZL-01 COSM461625 c.2035T>C p.C679R Substitution - Missense 7:158922490-158922490 + TCGA-CK-4948-01 COSM1449718 c.778C>T p.R260* Substitution - Nonsense 7:158879888-158879888 + NCI-H747 COSM3306376 c.69G>A p.W23* Substitution - Nonsense 7:158869908-158869908 + CHC1052T COSM217407 c.2261G>T p.G754V Substitution - Missense 7:158926190-158926190 + TCGA-CM-4746-01 COSM1449722 c.1234_1235insAA p.E415fs*22 Insertion - Frameshift 7:158902472-158902473 + PD18049a COSM5777383 c.975A>G p.K325K Substitution - coding silent 7:158887060-158887060 + LUAD-F00282 COSM367490 c.870G>T p.R290S Substitution - Missense 7:158879980-158879980 + 259091 COSM3725226 c.2585A>G p.Q862R Substitution - Missense 7:158934167-158934167 + S02242 COSM5677478 c.2141delC p.G715fs*12 Deletion - Frameshift 7:158923617-158923617 + TCGA-BR-8680-01 COSM3879911 c.2038G>A p.V680M Substitution - Missense 7:158922493-158922493 + 49M COSM5593973 c.2689C>T p.P897S Substitution - Missense 7:158934460-158934460 + TCGA-AP-A056-01 COSM1088017 c.511G>A p.E171K Substitution - Missense 7:158876629-158876629 + TCGA-DA-A1I1-06 COSM3636874 c.584G>A p.G195E Substitution - Missense 7:158879694-158879694 + Pat_58_B COSM1449723 c.1573delA p.N527fs*23 Deletion - Frameshift 7:158911662-158911662 + LUAD-B00416 COSM331553 c.2968G>T p.G990C Substitution - Missense 7:158942114-158942114 + HCC31T COSM1622650 c.884G>T p.G295V Substitution - Missense 7:158884568-158884568 + TCGA-CD-8536-01 COSM3879910 c.1830T>C p.A610A Substitution - coding silent 7:158918778-158918778 + TCGA-GF-A6C9-06 COSM4899550 c.2204C>T p.S735F Substitution - Missense 7:158923680-158923680 + BICR_22 COSM4593130 c.319A>G p.K107E Substitution - Missense 7:158871391-158871391 + TCGA-B5-A0JZ-01 COSM1088026 c.2371+2T>C p.? Unknown 7:158926302-158926302 + DN12052 COSM5777383 c.975A>G p.K325K Substitution - coding silent 7:158887060-158887060 + ICGC_0061 COSM379750 c.2166C>T p.V722V Substitution - coding silent 7:158923642-158923642 + TCGA-13-0913-01 COSM73284 c.799T>G p.F267V Substitution - Missense 7:158879909-158879909 + TCGA-NH-A5IV-01 COSM5184354 c.3044G>A p.G1015D Substitution - Missense 7:158945622-158945622 + Pat_45_B COSM5872372 c.1642G>A p.E548K Substitution - Missense 7:158913036-158913036 + TCGA-CM-6162-01 COSM1449721 c.1000G>A p.E334K Substitution - Missense 7:158891274-158891274 + TCGA-DK-A3WW-01 COSM3778294 c.2527C>T p.L843L Substitution - coding silent 7:158930496-158930496 + TCGA-BS-A0UV-01 COSM1088022 c.1562G>T p.R521I Substitution - Missense 7:158911651-158911651 + PT37 COSM5919474 c.1678G>A p.G560R Substitution - Missense 7:158913072-158913072 + CHC1040T COSM4799535 c.94G>C p.E32Q Substitution - Missense 7:158871166-158871166 + HCC75T COSM3663063 c.2449C>T p.P817S Substitution - Missense 7:158927007-158927007 + CHC909T COSM4806364 c.2438T>C p.V813A Substitution - Missense 7:158926996-158926996 + TCGA-HU-A4H3-01 COSM3879912 c.2247G>A p.T749T Substitution - coding silent 7:158923723-158923723 + TCGA-66-2788-01 COSM745676 c.1677G>T p.P559P Substitution - coding silent 7:158913071-158913071 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.389906;Hs.389945 7q36.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.N527Ifs*23 c.1580delA 7 158704353 CM - A Frameshift p.N527Kfs*10 c.1580dupA 7 158704353 BLCA A G 3-UTRSNV . c.3198+171A>G 7 158738638 HC A G Missense p.H333R c.998A>G 7 158683963 LUAD A G Missense p.K281E c.841A>G 7 158672642 LUSC A G Missense p.N978S c.2933A>G 7 158734770 BRCA A T Missense p.E790V c.2369A>T 7 158718989 HNSC A T Missense p.I423F c.1267A>T 7 158695196 HNSC A T Missense p.R69W c.205A>T 7 158663968 MM A T SpliceAcceptorSNV . c.936-2A>T 7 158679710 HC A T Synonymous p.T452T c.1356A>T 7 158695285 BRCA C A Missense p.D627E c.1881C>A 7 158711520 LUAD C A Synonymous p.T528T c.1584C>A 7 158704364 CM CC TT Missense p.T352I c.1055_1056delinsTT 7 158684020 CM C G Missense p.F505L c.1515C>G 7 158704295 BRCA C G Missense p.I844M c.2532C>G 7 158723192 BRCA C G Missense p.L410V c.1228C>G 7 158695157 CM C T Missense p.A968V c.2903C>T 7 158734740 CM C T Missense p.L49F c.145C>T 7 158663908 CM C T Missense p.P1060S c.3178C>T 7 158738447 STAD C T Missense p.P450L c.1349C>T 7 158695278 CM C T Missense p.P670S c.2008C>T 7 158715154 CM C T Missense p.P689S c.2065C>T 7 158715211 STAD C T Missense p.S249F c.746C>T 7 158672547 BLCA C T Missense p.S292F c.875C>T 7 158672676 CM C T Missense p.S506F c.1517C>T 7 158704297 CM C T Synonymous p.L830L c.2488C>T 7 158723148 CM C T Synonymous p.L884L c.2652C>T 7 158727114 BRCA C T Synonymous p.S241S c.723C>T 7 158672524 CM C T Synonymous p.T649T c.1947C>T 7 158715093 CM C T Synonymous p.V722V c.2166C>T 7 158716333 PAAD C T Synonymous p.Y194Y c.582C>T 7 158672383 COREAD G A Missense p.D182N c.544G>A 7 158669353 LUAD G A Missense p.E359K c.1075G>A 7 158694445 CM G A Missense p.E38K c.112G>A 7 158663875 CM G A Missense p.E418K c.1252G>A 7 158695181 LUAD G A Missense p.G195E c.584G>A 7 158672385 CM G A Missense p.G715R c.2143G>A 7 158716310 PRAD G A Missense p.V721I c.2161G>A 7 158716328 BRCA G A Missense p.V969M c.2905G>A 7 158734742 BRCA G A SpliceAcceptorSNV . c.2434-1G>A 7 158719682 LUSC G A Synonymous p.E286E c.858G>A 7 158672659 BRCA G A Synonymous p.Q973Q c.2919G>A 7 158734756 CM G A Synonymous p.T952T c.2856G>A 7 158734693 STAD G C Missense p.E315Q c.943G>C 7 158679719 HNSC G C Missense p.G1015A c.3044G>C 7 158738313 LUSC G C Missense p.G524R c.1570G>C 7 158704350 OV G C Missense p.L726F c.2178G>C 7 158716345 MM G C Missense p.W962C c.2886G>C 7 158734723 UCEC G C Synonymous p.L843L c.2529G>C 7 158723189 BRCA GG CT Missense p.G719L c.2155_2156delinsCT 7 158716322 LUAD G T Missense p.D753Y c.2257G>T 7 158716424 CM G T Missense p.G301C c.901G>T 7 158677276 LUAD G T Missense p.G754V c.2261G>T 7 158718881 HC G T Synonymous p.P559P c.1677G>T 7 158705762 LUSC T C Missense p.F710L c.2128T>C 7 158716295 BRCA T C Missense p.S27P c.79T>C 7 158663842 LUSC T C SpliceDonorSNV . c.2371+2T>C 7 158718993 UCEC T C Synonymous p.H840H c.2520T>C 7 158723180 LUSC T C Synonymous p.Y516Y c.1548T>C 7 158704328 CM - T Frameshift p.L508Ffs*8 c.1523dupT 7 158704302 LUSC T G Missense p.F267V c.799T>G 7 158672600 OV