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 6 136913613 136913613 + Silent SNP T T C TCGA-OR-A5LK-01A-11D-A29I-10 TCGA-OR-A5LK-10A-01D-A29L-10 g.chr6:136913613T>C c.3018A>G c.(3016-3018)ggA>ggG p.G1006G BLCA 6 136882784 136882784 + Splice_Site SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr6:136882784C>T c.e28-1 BLCA 6 136888833 136888833 + Missense_Mutation SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr6:136888833C>T c.3697G>A c.(3697-3699)Gat>Aat p.D1233N BLCA 6 136888983 136888983 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr6:136888983C>T c.3547G>A c.(3547-3549)Gag>Aag p.E1183K BLCA 6 136904781 136904781 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 g.chr6:136904781G>A c.3323C>T c.(3322-3324)aCc>aTc p.T1108I BLCA 6 136913658 136913658 + Silent SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr6:136913658C>T c.2973G>A c.(2971-2973)ttG>ttA p.L991L BLCA 6 136922962 136922962 + Silent SNP T T C TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr6:136922962T>C c.2835A>G c.(2833-2835)aaA>aaG p.K945K BLCA 6 136923007 136923007 + Silent SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 g.chr6:136923007G>A c.2790C>T c.(2788-2790)aaC>aaT p.N930N BLCA 6 136926387 136926387 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 g.chr6:136926387G>A c.2639C>T c.(2638-2640)cCa>cTa p.P880L BLCA 6 136944088 136944088 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr6:136944088C>T c.2048G>A c.(2047-2049)aGa>aAa p.R683K BLCA 6 136960710 136960710 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr6:136960710G>C c.1905C>G c.(1903-1905)atC>atG p.I635M BLCA 6 136972133 136972133 + Missense_Mutation SNP G G A TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr6:136972133G>A c.1777C>T c.(1777-1779)Cct>Tct p.P593S BLCA 6 136977457 136977457 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr6:136977457C>G c.1668G>C c.(1666-1668)gtG>gtC p.V556V BLCA 6 136980397 136980397 + Nonsense_Mutation SNP G G A TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr6:136980397G>A c.1486C>T c.(1486-1488)Caa>Taa p.Q496* BLCA 6 136990476 136990476 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr6:136990476G>A c.1311C>T c.(1309-1311)gtC>gtT p.V437V BLCA 6 137017141 137017141 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr6:137017141C>G c.1030G>C c.(1030-1032)Gat>Cat p.D344H BLCA 6 137017185 137017185 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr6:137017185G>C c.986C>G c.(985-987)tCt>tGt p.S329C BLCA 6 137018461 137018461 + Missense_Mutation SNP C C G TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr6:137018461C>G c.871G>C c.(871-873)Gaa>Caa p.E291Q BLCA 6 137018501 137018501 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr6:137018501G>C c.831C>G c.(829-831)ctC>ctG p.L277L BLCA 6 137041602 137041602 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr6:137041602G>C c.574C>G c.(574-576)Ctg>Gtg p.L192V BLCA 6 137113081 137113081 + Missense_Mutation SNP G G T TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr6:137113081G>T c.215C>A c.(214-216)tCc>tAc p.S72Y BRCA 6 136878950 136878950 + Silent SNP C C G TCGA-C8-A1HO-01A-11D-A13L-09 TCGA-C8-A1HO-10A-01D-A188-09 g.chr6:136878950C>G c.4071G>C c.(4069-4071)ggG>ggC p.G1357G BRCA 6 136882754 136882754 + Missense_Mutation SNP T T G TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr6:136882754T>G c.3904A>C c.(3904-3906)Aat>Cat p.N1302H BRCA 6 136901490 136901490 + Missense_Mutation SNP C C G TCGA-D8-A27V-01A-12D-A17D-09 TCGA-D8-A27V-10A-01D-A17D-09 g.chr6:136901490C>G c.3466G>C c.(3466-3468)Gac>Cac p.D1156H BRCA 6 136901529 136901529 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr6:136901529G>A c.3427C>T c.(3427-3429)Cgg>Tgg p.R1143W BRCA 6 136904772 136904773 + Frame_Shift_Del DEL GA GA - TCGA-GM-A2DK-01A-21D-A17W-09 TCGA-GM-A2DK-10C-01D-A17W-09 g.chr6:136904772_136904773delGA c.3331_3332delTC c.(3331-3333)tcafs p.S1111fs BRCA 6 136913591 136913591 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr6:136913591G>A c.3040C>T c.(3040-3042)Cgg>Tgg p.R1014W BRCA 6 136934281 136934281 + Nonsense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr6:136934281G>A c.2392C>T c.(2392-2394)Cag>Tag p.Q798* BRCA 6 136990511 136990511 + Missense_Mutation SNP C C T TCGA-AC-A2B8-01A-11D-A17D-09 TCGA-AC-A2B8-10A-01D-A17D-09 g.chr6:136990511C>T c.1276G>A c.(1276-1278)Gag>Aag p.E426K BRCA 6 136990511 136990511 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 g.chr6:136990511C>T c.1276G>A c.(1276-1278)Gag>Aag p.E426K BRCA 6 137018482 137018482 + Missense_Mutation SNP G G C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 g.chr6:137018482G>C c.850C>G c.(850-852)Cgt>Ggt p.R284G BRCA 6 137019648 137019648 + Missense_Mutation SNP T T A TCGA-A7-A3J1-01A-11D-A20S-09 TCGA-A7-A3J1-10A-01D-A20S-09 g.chr6:137019648T>A c.785A>T c.(784-786)aAg>aTg p.K262M BRCA 6 137019707 137019707 + Silent SNP G G A TCGA-AC-A2FO-01A-11D-A17W-09 TCGA-AC-A2FO-11A-12D-A17W-09 g.chr6:137019707G>A c.726C>T c.(724-726)ttC>ttT p.F242F BRCA 6 137019731 137019731 + Missense_Mutation SNP C C G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 g.chr6:137019731C>G c.702G>C c.(700-702)ttG>ttC p.L234F BRCA 6 137041664 137041664 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr6:137041664A>C c.512T>G c.(511-513)gTg>gGg p.V171G CESC 6 136888803 136888803 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr6:136888803C>T c.3727G>A c.(3727-3729)Gta>Ata p.V1243I CESC 6 136923055 136923055 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr6:136923055G>C c.2742C>G c.(2740-2742)ttC>ttG p.F914L CESC 6 136932511 136932511 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr6:136932511C>G c.2430G>C c.(2428-2430)ttG>ttC p.L810F CESC 6 136934374 136934374 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr6:136934374G>A c.2299C>T c.(2299-2301)Cgt>Tgt p.R767C CESC 6 136934380 136934380 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr6:136934380G>A c.2293C>T c.(2293-2295)Ctc>Ttc p.L765F CESC 6 136960681 136960681 + Splice_Site DEL T T - TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 g.chr6:136960681delT c.1934delA c.(1933-1935)aag>ag p.K645fs CESC 6 136960726 136960726 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chr6:136960726G>A c.1889C>T c.(1888-1890)tCt>tTt p.S630F CESC 6 137026254 137026254 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr6:137026254C>G c.606G>C c.(604-606)aaG>aaC p.K202N CESC 6 137041602 137041602 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 g.chr6:137041602G>C c.574C>G c.(574-576)Ctg>Gtg p.L192V CESC 6 137041623 137041623 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr6:137041623A>C c.553T>G c.(553-555)Tgt>Ggt p.C185G CESC 6 137112890 137112890 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr6:137112890C>G c.406G>C c.(406-408)Gac>Cac p.D136H COAD 6 136888982 136888982 + Missense_Mutation SNP T T A TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr6:136888982T>A c.3548A>T c.(3547-3549)gAg>gTg p.E1183V COAD 6 136901528 136901528 + Missense_Mutation SNP C C T TCGA-A6-6648-01A-11D-1771-10 TCGA-A6-6648-10A-01D-1771-10 g.chr6:136901528C>T c.3428G>A c.(3427-3429)cGg>cAg p.R1143Q COAD 6 136904875 136904875 + Frame_Shift_Del DEL C C - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr6:136904875delC c.3229delG c.(3229-3231)gctfs p.A1077fs COAD 6 136913340 136913340 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr6:136913340C>T c.3196G>A c.(3196-3198)Gtg>Atg p.V1066M COAD 6 136913365 136913365 + Silent SNP G G A TCGA-DM-A285-01A-11D-A16V-10 TCGA-DM-A285-10A-01D-A16V-10 g.chr6:136913365G>A c.3171C>T c.(3169-3171)atC>atT p.I1057I COAD 6 136922982 136922982 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:136922982T>G c.2815A>C c.(2815-2817)Aaa>Caa p.K939Q COAD 6 136923079 136923079 + Silent SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr6:136923079G>A c.2718C>T c.(2716-2718)tcC>tcT p.S906S COAD 6 136926408 136926408 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:136926408T>G c.2618A>C c.(2617-2619)gAa>gCa p.E873A COAD 6 136932439 136932439 + Silent SNP G G T TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr6:136932439G>T c.2502C>A c.(2500-2502)ccC>ccA p.P834P COAD 6 136934280 136934280 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:136934280T>C c.2393A>G c.(2392-2394)cAg>cGg p.Q798R COAD 6 136977571 136977571 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:136977571A>C c.1554T>G c.(1552-1554)atT>atG p.I518M COAD 6 136980408 136980408 + Missense_Mutation SNP A A G TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr6:136980408A>G c.1475T>C c.(1474-1476)aTg>aCg p.M492T COAD 6 136980427 136980427 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:136980427C>T c.1456G>A c.(1456-1458)Gtc>Atc p.V486I COAD 6 136990525 136990525 + Frame_Shift_Del DEL T T - TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr6:136990525delT c.1262delA c.(1261-1263)aagfs p.K421fs COAD 6 137015387 137015387 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr6:137015387C>T c.1144G>A c.(1144-1146)Gaa>Aaa p.E382K COAD 6 137018398 137018398 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:137018398C>A c.934G>T c.(934-936)Gat>Tat p.D312Y COAD 6 137018457 137018457 + Missense_Mutation SNP A A G TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr6:137018457A>G c.875T>C c.(874-876)tTg>tCg p.L292S COAD 6 137019677 137019677 + Silent SNP A A T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr6:137019677A>T c.756T>A c.(754-756)ccT>ccA p.P252P COADREAD 6 136878914 136878914 + Missense_Mutation SNP A A C TCGA-AH-6544-01A-11D-1826-10 TCGA-AH-6544-10A-01D-1826-10 g.chr6:136878914A>C c.4107T>G c.(4105-4107)ttT>ttG p.F1369L COADREAD 6 136888982 136888982 + Missense_Mutation SNP T T A TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr6:136888982T>A c.3548A>T c.(3547-3549)gAg>gTg p.E1183V COADREAD 6 136901528 136901528 + Missense_Mutation SNP C C T TCGA-A6-6648-01A-11D-1771-10 TCGA-A6-6648-10A-01D-1771-10 g.chr6:136901528C>T c.3428G>A c.(3427-3429)cGg>cAg p.R1143Q COADREAD 6 136904875 136904875 + Frame_Shift_Del DEL C C - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr6:136904875delC c.3229delG c.(3229-3231)gctfs p.A1077fs COADREAD 6 136913340 136913340 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr6:136913340C>T c.3196G>A c.(3196-3198)Gtg>Atg p.V1066M COADREAD 6 136913365 136913365 + Silent SNP G G A TCGA-DM-A285-01A-11D-A16V-10 TCGA-DM-A285-10A-01D-A16V-10 g.chr6:136913365G>A c.3171C>T c.(3169-3171)atC>atT p.I1057I COADREAD 6 136922982 136922982 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:136922982T>G c.2815A>C c.(2815-2817)Aaa>Caa p.K939Q COADREAD 6 136923079 136923079 + Silent SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr6:136923079G>A c.2718C>T c.(2716-2718)tcC>tcT p.S906S COADREAD 6 136926408 136926408 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:136926408T>G c.2618A>C c.(2617-2619)gAa>gCa p.E873A COADREAD 6 136932439 136932439 + Silent SNP G G T TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr6:136932439G>T c.2502C>A c.(2500-2502)ccC>ccA p.P834P COADREAD 6 136934280 136934280 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:136934280T>C c.2393A>G c.(2392-2394)cAg>cGg p.Q798R COADREAD 6 136958511 136958511 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:136958511C>A c.1968G>T c.(1966-1968)gaG>gaT p.E656D COADREAD 6 136977571 136977571 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:136977571A>C c.1554T>G c.(1552-1554)atT>atG p.I518M COADREAD 6 136980408 136980408 + Missense_Mutation SNP A A G TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr6:136980408A>G c.1475T>C c.(1474-1476)aTg>aCg p.M492T COADREAD 6 136980427 136980427 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:136980427C>T c.1456G>A c.(1456-1458)Gtc>Atc p.V486I COADREAD 6 136990525 136990525 + Frame_Shift_Del DEL T T - TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr6:136990525delT c.1262delA c.(1261-1263)aagfs p.K421fs COADREAD 6 137015387 137015387 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr6:137015387C>T c.1144G>A c.(1144-1146)Gaa>Aaa p.E382K COADREAD 6 137018398 137018398 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:137018398C>A c.934G>T c.(934-936)Gat>Tat p.D312Y COADREAD 6 137018457 137018457 + Missense_Mutation SNP A A G TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr6:137018457A>G c.875T>C c.(874-876)tTg>tCg p.L292S COADREAD 6 137019677 137019677 + Silent SNP A A T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr6:137019677A>T c.756T>A c.(754-756)ccT>ccA p.P252P ESCA 6 136882733 136882733 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 g.chr6:136882733C>T c.3925G>A c.(3925-3927)Gaa>Aaa p.E1309K ESCA 6 136913591 136913591 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 g.chr6:136913591G>A c.3040C>T c.(3040-3042)Cgg>Tgg p.R1014W ESCA 6 136932475 136932475 + Silent SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 g.chr6:136932475G>A c.2466C>T c.(2464-2466)gaC>gaT p.D822D ESCA 6 136972139 136972139 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr6:136972139C>T c.1771G>A c.(1771-1773)Gtg>Atg p.V591M ESCA 6 137015331 137015331 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr6:137015331C>T c.1200G>A c.(1198-1200)atG>atA p.M400I ESCA 6 137018373 137018373 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr6:137018373G>T c.959C>A c.(958-960)tCc>tAc p.S320Y ESCA 6 137018434 137018434 + Missense_Mutation SNP G G A TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 g.chr6:137018434G>A c.898C>T c.(898-900)Cgg>Tgg p.R300W ESCA 6 137019722 137019722 + Silent SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 g.chr6:137019722G>A c.711C>T c.(709-711)ctC>ctT p.L237L ESCA 6 137019800 137019800 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr6:137019800G>T c.633C>A c.(631-633)acC>acA p.T211T ESCA 6 137041712 137041712 + Missense_Mutation SNP T T A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 g.chr6:137041712T>A c.464A>T c.(463-465)gAg>gTg p.E155V ESCA 6 137113057 137113057 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr6:137113057C>T c.239G>A c.(238-240)cGg>cAg p.R80Q GBM 6 137041637 137041637 + Missense_Mutation SNP T T C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 g.chr6:137041637T>C c.539A>G c.(538-540)aAc>aGc p.N180S GBMLGG 6 136882674 136882674 + Silent SNP G G A TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 g.chr6:136882674G>A c.3984C>T c.(3982-3984)agC>agT p.S1328S GBMLGG 6 136904865 136904865 + Missense_Mutation SNP G G A TCGA-QH-A6X3-01A-21D-A32B-08 TCGA-QH-A6X3-10B-01D-A329-08 g.chr6:136904865G>A c.3239C>T c.(3238-3240)cCg>cTg p.P1080L GBMLGG 6 136932510 136932510 + Missense_Mutation SNP T T C TCGA-E1-5304-01A-01D-1468-08 TCGA-E1-5304-10A-01D-1468-08 g.chr6:136932510T>C c.2431A>G c.(2431-2433)Att>Gtt p.I811V GBMLGG 6 136935398 136935398 + Missense_Mutation SNP A A G TCGA-CS-5396-01A-02D-1468-08 TCGA-CS-5396-10A-01D-1468-08 g.chr6:136935398A>G c.2177T>C c.(2176-2178)aTa>aCa p.I726T GBMLGG 6 137041637 137041637 + Missense_Mutation SNP T T C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 g.chr6:137041637T>C c.539A>G c.(538-540)aAc>aGc p.N180S HNSC 6 136888996 136888996 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 g.chr6:136888996G>A c.3534C>T c.(3532-3534)ttC>ttT p.F1178F HNSC 6 136913455 136913455 + Silent SNP A A G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 g.chr6:136913455A>G c.3081T>C c.(3079-3081)gaT>gaC p.D1027D HNSC 6 136913701 136913701 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr6:136913701C>G c.2930G>C c.(2929-2931)aGc>aCc p.S977T HNSC 6 136926459 136926459 + Missense_Mutation SNP C C G TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 g.chr6:136926459C>G c.2567G>C c.(2566-2568)aGa>aCa p.R856T HNSC 6 136960771 136960771 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr6:136960771G>C c.1844C>G c.(1843-1845)tCt>tGt p.S615C HNSC 6 136977517 136977517 + Silent SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chr6:136977517T>C c.1608A>G c.(1606-1608)caA>caG p.Q536Q HNSC 6 136990454 136990454 + Nonsense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 g.chr6:136990454G>A c.1333C>T c.(1333-1335)Cag>Tag p.Q445* HNSC 6 136990474 136990474 + Missense_Mutation SNP A A G TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 g.chr6:136990474A>G c.1313T>C c.(1312-1314)cTc>cCc p.L438P HNSC 6 137015389 137015389 + Missense_Mutation SNP C C T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 g.chr6:137015389C>T c.1142G>A c.(1141-1143)aGc>aAc p.S381N HNSC 6 137019686 137019686 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr6:137019686G>A c.747C>T c.(745-747)atC>atT p.I249I KIPAN 6 136879991 136879991 + Silent SNP T T C TCGA-CJ-4878-01A-01D-1373-10 TCGA-CJ-4878-11A-01D-1373-10 g.chr6:136879991T>C c.4011A>G c.(4009-4011)ctA>ctG p.L1337L KIPAN 6 136923035 136923035 + Missense_Mutation SNP G G C TCGA-CJ-5672-01A-11D-1534-10 TCGA-CJ-5672-11A-01D-1534-10 g.chr6:136923035G>C c.2762C>G c.(2761-2763)cCa>cGa p.P921R KIPAN 6 136932484 136932484 + Missense_Mutation SNP C C A TCGA-B0-4815-01A-01D-1501-10 TCGA-B0-4815-11A-02D-1501-10 g.chr6:136932484C>A c.2457G>T c.(2455-2457)aaG>aaT p.K819N KIPAN 6 136972151 136972151 + Missense_Mutation SNP A A C TCGA-BP-4974-01A-01D-1462-08 TCGA-BP-4974-11A-01D-1462-08 g.chr6:136972151A>C c.1759T>G c.(1759-1761)Tct>Gct p.S587A KIPAN 6 137015318 137015319 + Frame_Shift_Ins INS - - A TCGA-CJ-4897-01A-03D-1429-08 TCGA-CJ-4897-11A-01D-1429-08 g.chr6:137015318_137015319insA c.1212_1213insT c.(1210-1215)tctaatfs p.N405fs KIPAN 6 137112970 137112970 + Missense_Mutation SNP T T A TCGA-BP-4341-01A-01D-1366-10 TCGA-BP-4341-11A-01D-1366-10 g.chr6:137112970T>A c.326A>T c.(325-327)gAg>gTg p.E109V KIRC 6 136879991 136879991 + Silent SNP T T C TCGA-CJ-4878-01A-01D-1373-10 TCGA-CJ-4878-11A-01D-1373-10 g.chr6:136879991T>C c.4011A>G c.(4009-4011)ctA>ctG p.L1337L KIRC 6 136923035 136923035 + Missense_Mutation SNP G G C TCGA-CJ-5672-01A-11D-1534-10 TCGA-CJ-5672-11A-01D-1534-10 g.chr6:136923035G>C c.2762C>G c.(2761-2763)cCa>cGa p.P921R KIRC 6 136932484 136932484 + Missense_Mutation SNP C C A TCGA-B0-4815-01A-01D-1501-10 TCGA-B0-4815-11A-02D-1501-10 g.chr6:136932484C>A c.2457G>T c.(2455-2457)aaG>aaT p.K819N KIRC 6 136972151 136972151 + Missense_Mutation SNP A A C TCGA-BP-4974-01A-01D-1462-08 TCGA-BP-4974-11A-01D-1462-08 g.chr6:136972151A>C c.1759T>G c.(1759-1761)Tct>Gct p.S587A KIRC 6 137015318 137015319 + Frame_Shift_Ins INS - - A TCGA-CJ-4897-01A-03D-1429-08 TCGA-CJ-4897-11A-01D-1429-08 g.chr6:137015318_137015319insA c.1212_1213insT c.(1210-1215)tctaatfs p.N405fs KIRC 6 137112970 137112970 + Missense_Mutation SNP T T A TCGA-BP-4341-01A-01D-1366-10 TCGA-BP-4341-11A-01D-1366-10 g.chr6:137112970T>A c.326A>T c.(325-327)gAg>gTg p.E109V LGG 6 136882674 136882674 + Silent SNP G G A TCGA-TM-A84O-01A-11D-A36O-08 TCGA-TM-A84O-10A-01D-A367-08 g.chr6:136882674G>A c.3984C>T c.(3982-3984)agC>agT p.S1328S LGG 6 136904865 136904865 + Missense_Mutation SNP G G A TCGA-QH-A6X3-01A-21D-A32B-08 TCGA-QH-A6X3-10B-01D-A329-08 g.chr6:136904865G>A c.3239C>T c.(3238-3240)cCg>cTg p.P1080L LGG 6 136932510 136932510 + Missense_Mutation SNP T T C TCGA-E1-5304-01A-01D-1468-08 TCGA-E1-5304-10A-01D-1468-08 g.chr6:136932510T>C c.2431A>G c.(2431-2433)Att>Gtt p.I811V LGG 6 136935398 136935398 + Missense_Mutation SNP A A G TCGA-CS-5396-01A-02D-1468-08 TCGA-CS-5396-10A-01D-1468-08 g.chr6:136935398A>G c.2177T>C c.(2176-2178)aTa>aCa p.I726T LIHC 6 136878915 136878915 + Missense_Mutation SNP A A G TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr6:136878915A>G c.4106T>C c.(4105-4107)tTt>tCt p.F1369S LIHC 6 136882716 136882716 + Silent SNP G G T TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr6:136882716G>T c.3942C>A c.(3940-3942)acC>acA p.T1314T LIHC 6 136913604 136913604 + Silent SNP A A G TCGA-DD-A11A-01A-11D-A12Z-10 TCGA-DD-A11A-10A-01D-A12Z-10 g.chr6:136913604A>G c.3027T>C c.(3025-3027)gaT>gaC p.D1009D LIHC 6 136935339 136935339 + Nonsense_Mutation SNP C C A TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr6:136935339C>A c.2236G>T c.(2236-2238)Gag>Tag p.E746* LIHC 6 136935403 136935403 + Silent SNP T T C TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr6:136935403T>C c.2172A>G c.(2170-2172)gaA>gaG p.E724E LUAD 6 136888992 136888992 + Missense_Mutation SNP G G A TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr6:136888992G>A c.3538C>T c.(3538-3540)Ctt>Ttt p.L1180F LUAD 6 136904770 136904770 + Nonsense_Mutation SNP T T A TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr6:136904770T>A c.3334A>T c.(3334-3336)Aag>Tag p.K1112* LUAD 6 136904872 136904872 + Missense_Mutation SNP C C T TCGA-35-4122-01A-01D-1105-08 TCGA-35-4122-10A-01D-1105-08 g.chr6:136904872C>T c.3232G>A c.(3232-3234)Gaa>Aaa p.E1078K LUAD 6 136913358 136913358 + Nonsense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 g.chr6:136913358C>A c.3178G>T c.(3178-3180)Gaa>Taa p.E1060* LUAD 6 136913701 136913701 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr6:136913701C>A c.2930G>T c.(2929-2931)aGc>aTc p.S977I LUAD 6 136926361 136926361 + Missense_Mutation SNP C C T TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr6:136926361C>T c.2665G>A c.(2665-2667)Gca>Aca p.A889T LUAD 6 136926374 136926374 + Silent SNP C C A TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr6:136926374C>A c.2652G>T c.(2650-2652)ctG>ctT p.L884L LUAD 6 136934306 136934306 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr6:136934306T>A c.2367A>T c.(2365-2367)gaA>gaT p.E789D LUAD 6 136963676 136963676 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 g.chr6:136963676G>C c.1820C>G c.(1819-1821)tCt>tGt p.S607C LUAD 6 136977581 136977581 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr6:136977581A>G c.1544T>C c.(1543-1545)gTa>gCa p.V515A LUAD 6 137018358 137018358 + Splice_Site SNP T T A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 g.chr6:137018358T>A c.974A>T c.(973-975)cAg>cTg p.Q325L LUAD 6 137018361 137018361 + Missense_Mutation SNP A A G TCGA-35-4122-01A-01D-1105-08 TCGA-35-4122-10A-01D-1105-08 g.chr6:137018361A>G c.971T>C c.(970-972)aTc>aCc p.I324T LUAD 6 137019812 137019812 + Silent SNP A A G TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr6:137019812A>G c.621T>C c.(619-621)acT>acC p.T207T LUAD 6 137041635 137041635 + Missense_Mutation SNP T T A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 g.chr6:137041635T>A c.541A>T c.(541-543)Atc>Ttc p.I181F LUAD 6 137041644 137041644 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 g.chr6:137041644C>A c.532G>T c.(532-534)Gcc>Tcc p.A178S LUAD 6 137112905 137112905 + Missense_Mutation SNP G G A TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr6:137112905G>A c.391C>T c.(391-393)Cat>Tat p.H131Y LUSC 6 136888770 136888770 + Splice_Site SNP T T A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr6:136888770T>A c.3760A>T c.(3760-3762)Aga>Tga p.R1254* LUSC 6 136904834 136904834 + Silent SNP G G C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr6:136904834G>C c.3270C>G c.(3268-3270)ctC>ctG p.L1090L LUSC 6 136913588 136913588 + Missense_Mutation SNP T T C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 g.chr6:136913588T>C c.3043A>G c.(3043-3045)Aca>Gca p.T1015A LUSC 6 136923061 136923061 + Silent SNP C C T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 g.chr6:136923061C>T c.2736G>A c.(2734-2736)aaG>aaA p.K912K LUSC 6 136926462 136926462 + Missense_Mutation SNP G G C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 g.chr6:136926462G>C c.2564C>G c.(2563-2565)cCa>cGa p.P855R LUSC 6 136934373 136934373 + Missense_Mutation SNP C C T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr6:136934373C>T c.2300G>A c.(2299-2301)cGt>cAt p.R767H LUSC 6 136990473 136990473 + Silent SNP G G C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 g.chr6:136990473G>C c.1314C>G c.(1312-1314)ctC>ctG p.L438L OV 6 136932441 136932441 + Missense_Mutation SNP G G A TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 g.chr6:136932441G>A c.2500C>T c.(2500-2502)Ccc>Tcc p.P834S OV 6 136934308 136934308 + Nonsense_Mutation SNP C C A TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 g.chr6:136934308C>A c.2365G>T c.(2365-2367)Gaa>Taa p.E789* OV 6 137019626 137019626 + Splice_Site SNP C C G TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 g.chr6:137019626C>G c.e4+1 OV 6 137019684 137019684 + Missense_Mutation SNP C C T TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 g.chr6:137019684C>T c.749G>A c.(748-750)tGc>tAc p.C250Y OV 6 137019804 137019804 + Missense_Mutation SNP T T C TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 g.chr6:137019804T>C c.629A>G c.(628-630)tAc>tGc p.Y210C PAAD 6 136888858 136888859 + Frame_Shift_Ins INS - - CTCA TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 g.chr6:136888858_136888859insCTCA c.3671_3672insTGAG c.(3670-3672)agcfs p.-1224fs PAAD 6 137113237 137113237 + Missense_Mutation SNP C C G TCGA-IB-A7LX-01A-12D-A36O-08 TCGA-IB-A7LX-10A-01D-A367-08 g.chr6:137113237C>G c.59G>C c.(58-60)gGc>gCc p.G20A PRAD 6 136913360 136913360 + Missense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr6:136913360G>A c.3176C>T c.(3175-3177)aCg>aTg p.T1059M PRAD 6 136913365 136913365 + Silent SNP G G T TCGA-G9-6498-01A-12D-A30X-08 TCGA-G9-6498-10A-01D-A30X-08 g.chr6:136913365G>T c.3171C>A c.(3169-3171)atC>atA p.I1057I PRAD 6 136972228 136972228 + Splice_Site SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr6:136972228A>G c.1682T>C c.(1681-1683)gTa>gCa p.V561A PRAD 6 136990479 136990479 + Silent SNP C C A TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 g.chr6:136990479C>A c.1308G>T c.(1306-1308)gcG>gcT p.A436A READ 6 136878914 136878914 + Missense_Mutation SNP A A C TCGA-AH-6544-01A-11D-1826-10 TCGA-AH-6544-10A-01D-1826-10 g.chr6:136878914A>C c.4107T>G c.(4105-4107)ttT>ttG p.F1369L READ 6 136958511 136958511 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:136958511C>A c.1968G>T c.(1966-1968)gaG>gaT p.E656D SARC 6 136934374 136934374 + Missense_Mutation SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 g.chr6:136934374G>A c.2299C>T c.(2299-2301)Cgt>Tgt p.R767C SARC 6 136944022 136944022 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr6:136944022C>T c.2114G>A c.(2113-2115)aGa>aAa p.R705K SARC 6 136963669 136963669 + Silent SNP G G T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr6:136963669G>T c.1827C>A c.(1825-1827)gtC>gtA p.V609V SARC 6 137015432 137015432 + Missense_Mutation SNP C C T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 g.chr6:137015432C>T c.1099G>A c.(1099-1101)Gac>Aac p.D367N SARC 6 137018523 137018523 + Missense_Mutation SNP T T A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 g.chr6:137018523T>A c.809A>T c.(808-810)cAg>cTg p.Q270L SKCM 6 136878955 136878955 + Splice_Site SNP C C T TCGA-ER-A19M-06A-61D-A23B-08 TCGA-ER-A19M-10A-01D-A23B-08 g.chr6:136878955C>T c.4066G>A c.(4066-4068)Gga>Aga p.G1356R SKCM 6 136882775 136882775 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr6:136882775C>T c.3883G>A c.(3883-3885)Gaa>Aaa p.E1295K SKCM 6 136888786 136888786 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr6:136888786C>T c.3744G>A c.(3742-3744)atG>atA p.M1248I SKCM 6 136888793 136888793 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr6:136888793C>T c.3737G>A c.(3736-3738)gGa>gAa p.G1246E SKCM 6 136888793 136888793 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 g.chr6:136888793C>T c.3737G>A c.(3736-3738)gGa>gAa p.G1246E SKCM 6 136901503 136901503 + Nonsense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr6:136901503C>T c.3453G>A c.(3451-3453)tgG>tgA p.W1151* SKCM 6 136913365 136913365 + Silent SNP G G A TCGA-FR-A44A-06A-11D-A24R-08 TCGA-FR-A44A-10A-01D-A24R-08 g.chr6:136913365G>A c.3171C>T c.(3169-3171)atC>atT p.I1057I SKCM 6 136913467 136913467 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr6:136913467C>T c.3069G>A c.(3067-3069)gaG>gaA p.E1023E SKCM 6 136913610 136913610 + Missense_Mutation SNP T T A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr6:136913610T>A c.3021A>T c.(3019-3021)gaA>gaT p.E1007D SKCM 6 136913734 136913734 + Missense_Mutation SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr6:136913734G>A c.2897C>T c.(2896-2898)tCc>tTc p.S966F SKCM 6 136923045 136923045 + Missense_Mutation SNP A A C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr6:136923045A>C c.2752T>G c.(2752-2754)Tgt>Ggt p.C918G SKCM 6 136923095 136923095 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr6:136923095G>A c.2702C>T c.(2701-2703)cCt>cTt p.P901L SKCM 6 136934291 136934291 + Silent SNP G G A TCGA-DA-A1HW-06A-11D-A19A-08 TCGA-DA-A1HW-10A-01D-A19A-08 g.chr6:136934291G>A c.2382C>T c.(2380-2382)ctC>ctT p.L794L SKCM 6 136934293 136934293 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr6:136934293G>A c.2380C>T c.(2380-2382)Ctc>Ttc p.L794F SKCM 6 136934327 136934327 + Missense_Mutation SNP A A T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr6:136934327A>T c.2346T>A c.(2344-2346)ttT>ttA p.F782L SKCM 6 136934353 136934353 + Missense_Mutation SNP T T G TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr6:136934353T>G c.2320A>C c.(2320-2322)Aaa>Caa p.K774Q SKCM 6 136944029 136944029 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr6:136944029G>A c.2107C>T c.(2107-2109)Caa>Taa p.Q703* SKCM 6 136958507 136958507 + Missense_Mutation SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr6:136958507C>T c.1972G>A c.(1972-1974)Ggg>Agg p.G658R SKCM 6 136977592 136977592 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr6:136977592G>A c.1533C>T c.(1531-1533)ctC>ctT p.L511L SKCM 6 136980431 136980431 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr6:136980431G>A c.1452C>T c.(1450-1452)gcC>gcT p.A484A SKCM 6 136980443 136980443 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr6:136980443A>T c.1440T>A c.(1438-1440)ttT>ttA p.F480L SKCM 6 136980466 136980466 + Nonsense_Mutation SNP G G A TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr6:136980466G>A c.1417C>T c.(1417-1419)Cag>Tag p.Q473* SKCM 6 137015310 137015310 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr6:137015310C>T c.1221G>A c.(1219-1221)acG>acA p.T407T SKCM 6 137018414 137018414 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr6:137018414G>A c.918C>T c.(916-918)atC>atT p.I306I SKCM 6 137018478 137018478 + Frame_Shift_Del DEL T T - TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr6:137018478delT c.854delA c.(853-855)aatfs p.N285fs SKCM 6 137019667 137019667 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr6:137019667G>A c.766C>T c.(766-768)Cgt>Tgt p.R256C SKCM 6 137019667 137019667 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr6:137019667G>A c.766C>T c.(766-768)Cgt>Tgt p.R256C SKCM 6 137019667 137019667 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr6:137019667G>A c.766C>T c.(766-768)Cgt>Tgt p.R256C SKCM 6 137026271 137026271 + Splice_Site SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr6:137026271C>T c.589G>A c.(589-591)Gaa>Aaa p.E197K SKCM 6 137026271 137026271 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr6:137026271C>T c.589G>A c.(589-591)Gaa>Aaa p.E197K SKCM 6 137041714 137041714 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr6:137041714C>T c.462G>A c.(460-462)gtG>gtA p.V154V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 6 136972166 136972166 single base substitution C T 5_prime_UTR_variant BLCA-CN 6 136972166 136972166 single base substitution C T missense_variant E582K 1744G>A BLCA-US 6 136882784 136882784 single base substitution C T splice_acceptor_variant BLCA-US 6 136904781 136904781 single base substitution G A exon_variant BLCA-US 6 136904781 136904781 single base substitution G A missense_variant T1108I 3323C>T BLCA-US 6 136904781 136904781 single base substitution G A missense_variant T355I 1064C>T BLCA-US 6 136977457 136977457 single base substitution C G 5_prime_UTR_variant BLCA-US 6 136977457 136977457 single base substitution C G synonymous_variant V556V 1668G>C BLCA-US 6 137017141 137017141 single base substitution C G missense_variant D344H 1030G>C BLCA-US 6 137018501 137018501 single base substitution G C synonymous_variant L277L 831C>G BLCA-US 6 137041602 137041602 single base substitution G C missense_variant L192V 574C>G BOCA-FR 6 136887198 136887198 single base substitution G A intron_variant BRCA-EU 6 136874440 136874440 single base substitution A C downstream_gene_variant BRCA-EU 6 136875170 136875170 single base substitution C G downstream_gene_variant BRCA-EU 6 136877143 136877143 single base substitution T G downstream_gene_variant BRCA-EU 6 136877992 136877992 single base substitution G C downstream_gene_variant BRCA-EU 6 136879078 136879078 single base substitution C T intron_variant BRCA-EU 6 136879493 136879493 single base substitution G T intron_variant BRCA-EU 6 136879681 136879681 single base substitution C G intron_variant BRCA-EU 6 136879785 136879785 single base substitution C T intron_variant BRCA-EU 6 136880898 136880898 single base substitution G A intron_variant BRCA-EU 6 136883505 136883505 single base substitution A T intron_variant BRCA-EU 6 136884379 136884379 single base substitution C T intron_variant BRCA-EU 6 136885215 136885215 single base substitution C T intron_variant BRCA-EU 6 136885302 136885302 single base substitution C G intron_variant BRCA-EU 6 136885330 136885330 single base substitution C T intron_variant BRCA-EU 6 136885349 136885349 single base substitution G A intron_variant BRCA-EU 6 136885707 136885707 single base substitution T C intron_variant BRCA-EU 6 136885813 136885813 single base substitution C G intron_variant BRCA-EU 6 136886029 136886029 single base substitution T C intron_variant BRCA-EU 6 136886357 136886357 single base substitution A C intron_variant BRCA-EU 6 136886361 136886371 deletion of <=200bp ATTTTATTTTT - intron_variant BRCA-EU 6 136886368 136886368 single base substitution T G intron_variant BRCA-EU 6 136887016 136887016 single base substitution G C intron_variant BRCA-EU 6 136887382 136887382 single base substitution G C intron_variant BRCA-EU 6 136890645 136890645 single base substitution C T intron_variant BRCA-EU 6 136891015 136891015 single base substitution A C intron_variant BRCA-EU 6 136892408 136892408 single base substitution C T intron_variant BRCA-EU 6 136892432 136892432 single base substitution C T intron_variant BRCA-EU 6 136893238 136893238 single base substitution G C intron_variant BRCA-EU 6 136893790 136893790 single base substitution G C intron_variant BRCA-EU 6 136894143 136894143 single base substitution G T intron_variant BRCA-EU 6 136896134 136896134 deletion of <=200bp T - intron_variant BRCA-EU 6 136896517 136896540 deletion of <=200bp ATCTCAAACTCCTAGGCTCAAGCA - downstream_gene_variant BRCA-EU 6 136896517 136896540 deletion of <=200bp ATCTCAAACTCCTAGGCTCAAGCA - intron_variant BRCA-EU 6 136898244 136898244 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 136898244 136898244 deletion of <=200bp A - intron_variant BRCA-EU 6 136899082 136899082 insertion of <=200bp - T downstream_gene_variant BRCA-EU 6 136899082 136899082 insertion of <=200bp - T intron_variant BRCA-EU 6 136901468 136901549 deletion of <=200bp ACCGCCTTCCGAATGATACTGTCTAAGGCAAACATCCAGTGCGGCTTGATGTTATGATTCCGAAGAACTTTATTGACCTGGA - frameshift_variant AVNKVLRNHNIKPHWMFALDSIIRKAV1138 BRCA-EU 6 136901468 136901549 deletion of <=200bp ACCGCCTTCCGAATGATACTGTCTAAGGCAAACATCCAGTGCGGCTTGATGTTATGATTCCGAAGAACTTTATTGACCTGGA - frameshift_variant AVNKVLRNHNIKPHWMFALDSIIRKAV385 BRCA-EU 6 136901468 136901549 deletion of <=200bp ACCGCCTTCCGAATGATACTGTCTAAGGCAAACATCCAGTGCGGCTTGATGTTATGATTCCGAAGAACTTTATTGACCTGGA - splice_acceptor_variant BRCA-EU 6 136901527 136901527 single base substitution C A exon_variant BRCA-EU 6 136901527 136901527 single base substitution C A synonymous_variant R1143R 3429G>T BRCA-EU 6 136901527 136901527 single base substitution C A synonymous_variant R390R 1170G>T BRCA-EU 6 136901769 136901769 single base substitution T C intron_variant BRCA-EU 6 136902955 136902955 single base substitution C T intron_variant BRCA-EU 6 136903000 136903000 single base substitution C T intron_variant BRCA-EU 6 136904273 136904273 single base substitution G T intron_variant BRCA-EU 6 136904454 136904454 single base substitution T C intron_variant BRCA-EU 6 136904747 136904747 single base substitution G A exon_variant BRCA-EU 6 136904747 136904747 single base substitution G A synonymous_variant F1119F 3357C>T BRCA-EU 6 136904747 136904747 single base substitution G A synonymous_variant F366F 1098C>T BRCA-EU 6 136905154 136905154 single base substitution A G intron_variant BRCA-EU 6 136905602 136905602 single base substitution C G exon_variant BRCA-EU 6 136905602 136905602 single base substitution C G intron_variant BRCA-EU 6 136907760 136907760 single base substitution T A intron_variant BRCA-EU 6 136907760 136907760 single base substitution T A upstream_gene_variant BRCA-EU 6 136908531 136908531 single base substitution G A intron_variant BRCA-EU 6 136908531 136908531 single base substitution G A upstream_gene_variant BRCA-EU 6 136908663 136908663 single base substitution G T intron_variant BRCA-EU 6 136908663 136908663 single base substitution G T upstream_gene_variant BRCA-EU 6 136910876 136910876 single base substitution C T intron_variant BRCA-EU 6 136911333 136911333 single base substitution G T intron_variant BRCA-EU 6 136911334 136911334 single base substitution A G intron_variant BRCA-EU 6 136912564 136912564 single base substitution G A intron_variant BRCA-EU 6 136913457 136913457 single base substitution C A missense_variant D1027Y 3079G>T BRCA-EU 6 136913457 136913457 single base substitution C A missense_variant D274Y 820G>T BRCA-EU 6 136915041 136915041 single base substitution C G intron_variant BRCA-EU 6 136915581 136915581 single base substitution G A intron_variant BRCA-EU 6 136916458 136916458 single base substitution G A intron_variant BRCA-EU 6 136918730 136918730 single base substitution A T intron_variant BRCA-EU 6 136919743 136919743 single base substitution C G intron_variant BRCA-EU 6 136922975 136922975 single base substitution G C stop_gained S188* 563C>G BRCA-EU 6 136922975 136922975 single base substitution G C stop_gained S941* 2822C>G BRCA-EU 6 136923539 136923539 single base substitution C T intron_variant BRCA-EU 6 136925463 136925463 deletion of <=200bp A - intron_variant BRCA-EU 6 136925653 136925653 single base substitution C G intron_variant BRCA-EU 6 136926762 136926762 single base substitution T C intron_variant BRCA-EU 6 136927632 136927632 insertion of <=200bp - T intron_variant BRCA-EU 6 136928770 136928770 single base substitution G A intron_variant BRCA-EU 6 136929315 136929315 single base substitution G A intron_variant BRCA-EU 6 136930656 136930656 single base substitution C T intron_variant BRCA-EU 6 136932351 136932351 single base substitution C T intron_variant BRCA-EU 6 136932843 136932843 single base substitution A G intron_variant BRCA-EU 6 136932988 136932988 single base substitution C G intron_variant BRCA-EU 6 136933474 136933474 single base substitution C G intron_variant BRCA-EU 6 136936611 136936611 single base substitution T G intron_variant BRCA-EU 6 136937504 136937504 single base substitution G A intron_variant BRCA-EU 6 136938448 136938448 single base substitution A C intron_variant BRCA-EU 6 136938635 136938635 single base substitution T C intron_variant BRCA-EU 6 136938708 136938708 single base substitution T C intron_variant BRCA-EU 6 136940040 136940040 single base substitution C G intron_variant BRCA-EU 6 136940284 136940284 single base substitution C G intron_variant BRCA-EU 6 136940376 136940376 single base substitution G T intron_variant BRCA-EU 6 136943020 136943020 single base substitution C T intron_variant BRCA-EU 6 136944710 136944710 single base substitution G T intron_variant BRCA-EU 6 136945033 136945033 deletion of <=200bp A - intron_variant BRCA-EU 6 136945276 136945276 single base substitution G C intron_variant BRCA-EU 6 136945290 136945290 single base substitution A G intron_variant BRCA-EU 6 136947001 136947001 single base substitution A C intron_variant BRCA-EU 6 136949150 136949150 single base substitution G A intron_variant BRCA-EU 6 136950076 136950076 single base substitution G C intron_variant BRCA-EU 6 136950602 136950602 insertion of <=200bp - T intron_variant BRCA-EU 6 136950738 136950738 single base substitution G A intron_variant BRCA-EU 6 136951956 136951956 single base substitution G T intron_variant BRCA-EU 6 136954009 136954009 single base substitution T C intron_variant BRCA-EU 6 136955455 136955455 single base substitution C T intron_variant BRCA-EU 6 136955648 136955648 single base substitution C G intron_variant BRCA-EU 6 136956348 136956453 deletion of <=200bp TATGATTGATAGAATTGTTTCATTTTCAATTTCTTTAAGTTTTACCTTGGCAAGTTGCTATGTATCAAGTGATGCAAAATTTAACACAGAAACAAAGATAACAAGG - intron_variant BRCA-EU 6 136957106 136957106 deletion of <=200bp T - intron_variant BRCA-EU 6 136957156 136957156 single base substitution G C intron_variant BRCA-EU 6 136958255 136958255 single base substitution A C intron_variant BRCA-EU 6 136959449 136959449 single base substitution C G intron_variant BRCA-EU 6 136959732 136959732 single base substitution A G intron_variant BRCA-EU 6 136959801 136959801 deletion of <=200bp T - intron_variant BRCA-EU 6 136960041 136960041 single base substitution C T intron_variant BRCA-EU 6 136960441 136960441 single base substitution T C intron_variant BRCA-EU 6 136961195 136961195 single base substitution G C intron_variant BRCA-EU 6 136962298 136962298 single base substitution G C intron_variant BRCA-EU 6 136962643 136962643 deletion of <=200bp A - intron_variant BRCA-EU 6 136962649 136962649 insertion of <=200bp - AT intron_variant BRCA-EU 6 136963521 136963521 single base substitution A G intron_variant BRCA-EU 6 136966009 136966009 single base substitution G C intron_variant BRCA-EU 6 136966516 136966516 single base substitution C A intron_variant BRCA-EU 6 136966920 136966920 single base substitution A G intron_variant BRCA-EU 6 136969877 136969877 single base substitution C G intron_variant BRCA-EU 6 136970671 136970671 single base substitution C T intron_variant BRCA-EU 6 136970736 136970736 single base substitution G T intron_variant BRCA-EU 6 136973634 136973634 single base substitution C G intron_variant BRCA-EU 6 136973645 136973645 single base substitution C T intron_variant BRCA-EU 6 136973739 136973739 single base substitution C T intron_variant BRCA-EU 6 136973750 136973750 single base substitution C T intron_variant BRCA-EU 6 136973753 136973753 single base substitution C T intron_variant BRCA-EU 6 136973866 136973866 single base substitution A G intron_variant BRCA-EU 6 136975545 136975545 single base substitution T G intron_variant BRCA-EU 6 136976498 136976498 single base substitution A G intron_variant BRCA-EU 6 136976796 136976796 single base substitution C A intron_variant BRCA-EU 6 136976912 136976912 single base substitution G C intron_variant BRCA-EU 6 136978209 136978209 single base substitution G A intron_variant BRCA-EU 6 136978209 136978209 single base substitution G A upstream_gene_variant BRCA-EU 6 136978223 136978223 single base substitution C T intron_variant BRCA-EU 6 136978223 136978223 single base substitution C T upstream_gene_variant BRCA-EU 6 136978788 136978788 single base substitution C T intron_variant BRCA-EU 6 136978788 136978788 single base substitution C T upstream_gene_variant BRCA-EU 6 136979378 136979378 single base substitution A G intron_variant BRCA-EU 6 136979378 136979378 single base substitution A G upstream_gene_variant BRCA-EU 6 136979945 136979945 single base substitution G C intron_variant BRCA-EU 6 136979945 136979945 single base substitution G C upstream_gene_variant BRCA-EU 6 136981490 136981490 single base substitution G C intron_variant BRCA-EU 6 136981490 136981490 single base substitution G C upstream_gene_variant BRCA-EU 6 136981759 136981759 single base substitution G C intron_variant BRCA-EU 6 136981759 136981759 single base substitution G C upstream_gene_variant BRCA-EU 6 136982528 136982528 single base substitution T C intron_variant BRCA-EU 6 136982528 136982528 single base substitution T C upstream_gene_variant BRCA-EU 6 136984669 136984669 single base substitution T C intron_variant BRCA-EU 6 136985084 136985084 deletion of <=200bp T - intron_variant BRCA-EU 6 136985374 136985374 single base substitution G A intron_variant BRCA-EU 6 136986013 136986013 single base substitution G A intron_variant BRCA-EU 6 136987176 136987176 single base substitution G T intron_variant BRCA-EU 6 136988338 136988338 single base substitution C T intron_variant BRCA-EU 6 136990112 136990112 single base substitution G A intron_variant BRCA-EU 6 136990250 136990250 single base substitution C T intron_variant BRCA-EU 6 136990389 136990389 single base substitution G C intron_variant BRCA-EU 6 136991094 136991094 deletion of <=200bp T - intron_variant BRCA-EU 6 136991243 136991243 single base substitution T C intron_variant BRCA-EU 6 136991567 136991567 single base substitution G A intron_variant BRCA-EU 6 136992108 136992108 single base substitution C T intron_variant BRCA-EU 6 136992524 136992524 single base substitution C G intron_variant BRCA-EU 6 136993226 136993226 single base substitution A G intron_variant BRCA-EU 6 136993774 136993774 single base substitution T A intron_variant BRCA-EU 6 136994772 136994772 single base substitution C T intron_variant BRCA-EU 6 136994792 136994792 single base substitution T G intron_variant BRCA-EU 6 136995349 136995349 single base substitution A G intron_variant BRCA-EU 6 136997303 136997303 single base substitution C T intron_variant BRCA-EU 6 137000205 137000205 single base substitution A G intron_variant BRCA-EU 6 137000574 137000574 deletion of <=200bp T - intron_variant BRCA-EU 6 137000728 137000728 single base substitution T A intron_variant BRCA-EU 6 137001294 137001294 single base substitution A G intron_variant BRCA-EU 6 137002539 137002539 single base substitution A G intron_variant BRCA-EU 6 137004219 137004219 single base substitution G C intron_variant BRCA-EU 6 137004399 137004399 single base substitution G A intron_variant BRCA-EU 6 137005293 137005293 single base substitution C T intron_variant BRCA-EU 6 137005366 137005366 single base substitution T A intron_variant BRCA-EU 6 137006408 137006408 single base substitution A G intron_variant BRCA-EU 6 137007714 137007714 single base substitution C G intron_variant BRCA-EU 6 137008242 137008242 single base substitution C T intron_variant BRCA-EU 6 137008305 137008305 single base substitution A G intron_variant BRCA-EU 6 137008471 137008471 single base substitution C A intron_variant BRCA-EU 6 137010062 137010062 single base substitution A C intron_variant BRCA-EU 6 137010095 137010095 single base substitution A G intron_variant BRCA-EU 6 137010911 137010911 single base substitution G T intron_variant BRCA-EU 6 137012125 137012125 insertion of <=200bp - T intron_variant BRCA-EU 6 137014008 137014008 single base substitution C G intron_variant BRCA-EU 6 137015059 137015059 single base substitution G T intron_variant BRCA-EU 6 137015109 137015109 single base substitution G C intron_variant BRCA-EU 6 137019828 137019828 single base substitution G A splice_region_variant BRCA-EU 6 137021163 137021163 single base substitution G C intron_variant BRCA-EU 6 137021491 137021491 single base substitution G A intron_variant BRCA-EU 6 137021742 137021742 single base substitution G C intron_variant BRCA-EU 6 137021798 137021798 single base substitution G C intron_variant BRCA-EU 6 137023035 137023035 single base substitution G C intron_variant BRCA-EU 6 137025108 137025108 single base substitution A G intron_variant BRCA-EU 6 137027007 137027007 single base substitution A G intron_variant BRCA-EU 6 137027579 137027579 single base substitution G A intron_variant BRCA-EU 6 137027734 137027734 single base substitution C G intron_variant BRCA-EU 6 137028915 137028915 single base substitution T A intron_variant BRCA-EU 6 137029371 137029371 single base substitution G C intron_variant BRCA-EU 6 137029395 137029395 deletion of <=200bp T - intron_variant BRCA-EU 6 137029818 137029818 single base substitution T C intron_variant BRCA-EU 6 137030933 137030933 single base substitution G T intron_variant BRCA-EU 6 137032247 137032247 single base substitution G A intron_variant BRCA-EU 6 137034351 137034351 single base substitution T A intron_variant BRCA-EU 6 137034483 137034483 single base substitution G A intron_variant BRCA-EU 6 137034762 137034762 single base substitution C A intron_variant BRCA-EU 6 137037107 137037107 single base substitution G A intron_variant BRCA-EU 6 137038490 137038490 deletion of <=200bp A - intron_variant BRCA-EU 6 137039788 137039788 single base substitution C G intron_variant BRCA-EU 6 137040292 137040292 single base substitution T A intron_variant BRCA-EU 6 137041016 137041016 single base substitution T G intron_variant BRCA-EU 6 137041591 137041591 single base substitution C T synonymous_variant L195L 585G>A BRCA-EU 6 137042038 137042038 single base substitution C T intron_variant BRCA-EU 6 137042654 137042654 single base substitution G A intron_variant BRCA-EU 6 137043247 137043247 single base substitution T C intron_variant BRCA-EU 6 137043370 137043370 single base substitution G C intron_variant BRCA-EU 6 137044503 137044503 single base substitution T G intron_variant BRCA-EU 6 137044896 137044896 single base substitution G C intron_variant BRCA-EU 6 137044971 137044971 single base substitution C T intron_variant BRCA-EU 6 137045031 137045031 single base substitution G A intron_variant BRCA-EU 6 137045634 137045634 single base substitution C G intron_variant BRCA-EU 6 137045945 137045945 single base substitution C T intron_variant BRCA-EU 6 137048179 137048179 single base substitution C G intron_variant BRCA-EU 6 137048438 137048438 single base substitution G C intron_variant BRCA-EU 6 137048542 137048542 single base substitution C T intron_variant BRCA-EU 6 137050402 137050402 single base substitution A T intron_variant BRCA-EU 6 137050747 137050747 single base substitution C G intron_variant BRCA-EU 6 137051069 137051069 single base substitution A G intron_variant BRCA-EU 6 137051301 137051301 single base substitution T G intron_variant BRCA-EU 6 137051853 137051853 single base substitution C G intron_variant BRCA-EU 6 137052029 137052029 single base substitution A T intron_variant BRCA-EU 6 137052549 137052549 single base substitution C T intron_variant BRCA-EU 6 137052572 137052572 single base substitution C G intron_variant BRCA-EU 6 137053202 137053202 single base substitution G T intron_variant BRCA-EU 6 137053223 137053223 single base substitution G C intron_variant BRCA-EU 6 137053550 137053550 single base substitution G A intron_variant BRCA-EU 6 137054775 137054775 deletion of <=200bp T - intron_variant BRCA-EU 6 137055151 137055151 single base substitution T C intron_variant BRCA-EU 6 137055489 137055489 single base substitution C T intron_variant BRCA-EU 6 137056364 137056364 single base substitution G A intron_variant BRCA-EU 6 137056507 137056507 single base substitution G A intron_variant BRCA-EU 6 137057852 137057853 deletion of <=200bp AG - intron_variant BRCA-EU 6 137058149 137058149 single base substitution T C intron_variant BRCA-EU 6 137058869 137058869 single base substitution A T intron_variant BRCA-EU 6 137059161 137059161 single base substitution T G intron_variant BRCA-EU 6 137059600 137059603 deletion of <=200bp ACAA - intron_variant BRCA-EU 6 137060901 137060901 single base substitution G T intron_variant BRCA-EU 6 137062420 137062420 single base substitution G T intron_variant BRCA-EU 6 137067055 137067055 single base substitution G T intron_variant BRCA-EU 6 137067658 137067658 single base substitution T C intron_variant BRCA-EU 6 137067733 137067733 single base substitution G A intron_variant BRCA-EU 6 137068052 137068052 single base substitution G C intron_variant BRCA-EU 6 137068947 137068947 single base substitution T A intron_variant BRCA-EU 6 137068987 137068987 single base substitution G A intron_variant BRCA-EU 6 137069175 137069175 deletion of <=200bp A - intron_variant BRCA-EU 6 137069175 137069175 insertion of <=200bp - A intron_variant BRCA-EU 6 137071318 137071318 single base substitution C G intron_variant BRCA-EU 6 137071614 137071614 single base substitution G T intron_variant BRCA-EU 6 137071643 137071643 single base substitution G A intron_variant BRCA-EU 6 137072359 137072359 single base substitution G C intron_variant BRCA-EU 6 137072486 137072486 single base substitution G C intron_variant BRCA-EU 6 137072754 137072754 single base substitution G A intron_variant BRCA-EU 6 137073283 137073283 single base substitution G A intron_variant BRCA-EU 6 137077413 137077413 single base substitution A G intron_variant BRCA-EU 6 137078167 137078167 single base substitution G A intron_variant BRCA-EU 6 137078584 137078584 single base substitution T C intron_variant BRCA-EU 6 137079408 137079408 insertion of <=200bp - A intron_variant BRCA-EU 6 137081828 137081828 single base substitution C T intron_variant BRCA-EU 6 137082368 137082368 single base substitution A C intron_variant BRCA-EU 6 137087282 137087282 single base substitution C A intron_variant BRCA-EU 6 137087358 137087358 single base substitution C A intron_variant BRCA-EU 6 137087416 137087416 single base substitution G A intron_variant BRCA-EU 6 137090031 137090031 single base substitution A G intron_variant BRCA-EU 6 137090064 137090064 single base substitution A G intron_variant BRCA-EU 6 137090449 137090449 single base substitution G A intron_variant BRCA-EU 6 137090553 137090553 single base substitution A T intron_variant BRCA-EU 6 137092616 137092616 single base substitution G A intron_variant BRCA-EU 6 137093376 137093376 deletion of <=200bp G - intron_variant BRCA-EU 6 137094989 137094989 single base substitution T C intron_variant BRCA-EU 6 137095006 137095006 single base substitution A G intron_variant BRCA-EU 6 137095510 137095510 single base substitution T G intron_variant BRCA-EU 6 137097335 137097335 single base substitution G C intron_variant BRCA-EU 6 137100300 137100300 single base substitution A G intron_variant BRCA-EU 6 137100492 137100492 single base substitution G A intron_variant BRCA-EU 6 137101300 137101300 single base substitution G C intron_variant BRCA-EU 6 137101819 137101819 single base substitution G A intron_variant BRCA-EU 6 137105959 137105959 deletion of <=200bp T - intron_variant BRCA-EU 6 137106733 137106733 single base substitution G C intron_variant BRCA-EU 6 137107217 137107217 insertion of <=200bp - A intron_variant BRCA-EU 6 137109956 137109956 single base substitution C T intron_variant BRCA-EU 6 137110088 137110088 single base substitution G A intron_variant BRCA-EU 6 137111050 137111050 single base substitution G C intron_variant BRCA-EU 6 137114249 137114249 single base substitution T C upstream_gene_variant BRCA-EU 6 137115799 137115799 single base substitution A G upstream_gene_variant BRCA-EU 6 137117922 137117923 deletion of <=200bp TT - upstream_gene_variant BRCA-EU 6 137118183 137118183 single base substitution C T upstream_gene_variant BRCA-FR 6 136885215 136885215 single base substitution C T intron_variant BRCA-FR 6 136885302 136885302 single base substitution C G intron_variant BRCA-FR 6 136887016 136887016 single base substitution G C intron_variant BRCA-FR 6 136892432 136892432 single base substitution C T intron_variant BRCA-FR 6 136905154 136905154 single base substitution A G intron_variant BRCA-FR 6 136923634 136923634 single base substitution G T intron_variant BRCA-FR 6 136930656 136930656 single base substitution C T intron_variant BRCA-FR 6 136933474 136933474 single base substitution C G intron_variant BRCA-FR 6 136943020 136943020 single base substitution C T intron_variant BRCA-FR 6 136950076 136950076 single base substitution G C intron_variant BRCA-FR 6 136954009 136954009 single base substitution T C intron_variant BRCA-FR 6 136954400 136954400 single base substitution G A intron_variant BRCA-FR 6 136955455 136955455 single base substitution C T intron_variant BRCA-FR 6 136957156 136957156 single base substitution G C intron_variant BRCA-FR 6 136960441 136960441 single base substitution T C intron_variant BRCA-FR 6 136962298 136962298 single base substitution G C intron_variant BRCA-FR 6 136969877 136969877 single base substitution C G intron_variant BRCA-FR 6 136970671 136970671 single base substitution C T intron_variant BRCA-FR 6 136976912 136976912 single base substitution G C intron_variant BRCA-FR 6 136979945 136979945 single base substitution G C intron_variant BRCA-FR 6 136979945 136979945 single base substitution G C upstream_gene_variant BRCA-FR 6 136990250 136990250 single base substitution C T intron_variant BRCA-FR 6 136992524 136992524 single base substitution C G intron_variant BRCA-FR 6 137010911 137010911 single base substitution G T intron_variant BRCA-FR 6 137015059 137015059 single base substitution G T intron_variant BRCA-FR 6 137034483 137034483 single base substitution G A intron_variant BRCA-FR 6 137034776 137034776 single base substitution C T intron_variant BRCA-FR 6 137041591 137041591 single base substitution C T synonymous_variant L195L 585G>A BRCA-FR 6 137043370 137043370 single base substitution G C intron_variant BRCA-FR 6 137051853 137051853 single base substitution C G intron_variant BRCA-FR 6 137052572 137052572 single base substitution C G intron_variant BRCA-FR 6 137053102 137053102 single base substitution G T intron_variant BRCA-FR 6 137056507 137056507 single base substitution G A intron_variant BRCA-FR 6 137058149 137058149 single base substitution T C intron_variant BRCA-FR 6 137060901 137060901 single base substitution G T intron_variant BRCA-FR 6 137072359 137072359 single base substitution G C intron_variant BRCA-FR 6 137072486 137072486 single base substitution G C intron_variant BRCA-FR 6 137075097 137075097 single base substitution C T intron_variant BRCA-FR 6 137081929 137081929 single base substitution G A intron_variant BRCA-FR 6 137090449 137090449 single base substitution G A intron_variant BRCA-FR 6 137096951 137096951 single base substitution T A intron_variant BRCA-FR 6 137097335 137097335 single base substitution G C intron_variant BRCA-FR 6 137111050 137111050 single base substitution G C intron_variant BRCA-FR 6 137115799 137115799 single base substitution A G upstream_gene_variant BRCA-KR 6 136882738 136882738 single base substitution T G missense_variant N1307T 3920A>C BRCA-KR 6 136882738 136882738 single base substitution T G missense_variant N554T 1661A>C BRCA-KR 6 136913637 136913637 single base substitution G T missense_variant F245L 735C>A BRCA-KR 6 136913637 136913637 single base substitution G T missense_variant F998L 2994C>A BRCA-KR 6 137019673 137019673 single base substitution C A missense_variant V254L 760G>T BRCA-UK 6 136877992 136877992 single base substitution G C downstream_gene_variant BRCA-UK 6 136902955 136902955 single base substitution C T intron_variant BRCA-UK 6 136923539 136923539 single base substitution C T intron_variant BRCA-UK 6 136932843 136932843 single base substitution A G intron_variant BRCA-UK 6 136938635 136938635 single base substitution T C intron_variant BRCA-UK 6 136977778 136977778 single base substitution G T intron_variant BRCA-UK 6 136977778 136977778 single base substitution G T upstream_gene_variant BRCA-UK 6 137000205 137000205 single base substitution A G intron_variant BRCA-UK 6 137008471 137008471 single base substitution C A intron_variant BRCA-UK 6 137065274 137065274 single base substitution G A intron_variant BRCA-UK 6 137095510 137095510 single base substitution T G intron_variant BRCA-UK 6 137117922 137117923 deletion of <=200bp TT - upstream_gene_variant BRCA-US 6 136878950 136878950 single base substitution C G synonymous_variant G1357G 4071G>C BRCA-US 6 136878950 136878950 single base substitution C G synonymous_variant G604G 1812G>C BRCA-US 6 136882754 136882754 single base substitution T G missense_variant N1302H 3904A>C BRCA-US 6 136882754 136882754 single base substitution T G missense_variant N549H 1645A>C BRCA-US 6 136901490 136901490 single base substitution C G exon_variant BRCA-US 6 136901490 136901490 single base substitution C G missense_variant D1156H 3466G>C BRCA-US 6 136901490 136901490 single base substitution C G missense_variant D403H 1207G>C BRCA-US 6 136901529 136901529 single base substitution G A exon_variant BRCA-US 6 136901529 136901529 single base substitution G A missense_variant R1143W 3427C>T BRCA-US 6 136901529 136901529 single base substitution G A missense_variant R390W 1168C>T BRCA-US 6 136904772 136904773 deletion of <=200bp GA - exon_variant BRCA-US 6 136904772 136904773 deletion of <=200bp GA - frameshift_variant S1111 BRCA-US 6 136904772 136904773 deletion of <=200bp GA - frameshift_variant S358 BRCA-US 6 136913591 136913591 single base substitution G A missense_variant R1014W 3040C>T BRCA-US 6 136913591 136913591 single base substitution G A missense_variant R261W 781C>T BRCA-US 6 136934281 136934281 single base substitution G A stop_gained Q45* 133C>T BRCA-US 6 136934281 136934281 single base substitution G A stop_gained Q798* 2392C>T BRCA-US 6 136990511 136990511 single base substitution C T missense_variant E426K 1276G>A BRCA-US 6 137018482 137018482 single base substitution G C missense_variant R284G 850C>G BRCA-US 6 137019648 137019648 single base substitution T A missense_variant K262M 785A>T BRCA-US 6 137019707 137019707 single base substitution G A synonymous_variant F242F 726C>T BRCA-US 6 137019731 137019731 single base substitution C G missense_variant L234F 702G>C BRCA-US 6 137041664 137041664 single base substitution A C missense_variant V171G 512T>G BTCA-JP 6 136878874 136878874 single base substitution C T 3_prime_UTR_variant BTCA-JP 6 136913358 136913358 single base substitution C A stop_gained E1060* 3178G>T BTCA-JP 6 136913358 136913358 single base substitution C A stop_gained E307* 919G>T BTCA-JP 6 136913384 136913384 single base substitution C T missense_variant R1051Q 3152G>A BTCA-JP 6 136913384 136913384 single base substitution C T missense_variant R298Q 893G>A BTCA-JP 6 136913771 136913771 single base substitution G A intron_variant BTCA-JP 6 136915034 136915034 single base substitution C T intron_variant BTCA-JP 6 136922972 136922972 single base substitution C T missense_variant S189N 566G>A BTCA-JP 6 136922972 136922972 single base substitution C T missense_variant S942N 2825G>A BTCA-JP 6 136926552 136926552 single base substitution G A intron_variant BTCA-JP 6 136934269 136934269 single base substitution G A missense_variant R49W 145C>T BTCA-JP 6 136934269 136934269 single base substitution G A missense_variant R802W 2404C>T BTCA-JP 6 136963591 136963591 single base substitution C A intron_variant BTCA-JP 6 137018339 137018339 single base substitution C T intron_variant BTCA-JP 6 137113703 137113703 single base substitution C A upstream_gene_variant BTCA-JP 6 137113706 137113706 single base substitution G T upstream_gene_variant CESC-US 6 136888803 136888803 single base substitution C T missense_variant V1243I 3727G>A CESC-US 6 136888803 136888803 single base substitution C T missense_variant V490I 1468G>A CESC-US 6 136923055 136923055 single base substitution G C missense_variant F161L 483C>G CESC-US 6 136923055 136923055 single base substitution G C missense_variant F914L 2742C>G CESC-US 6 136932511 136932511 single base substitution C G missense_variant L57F 171G>C CESC-US 6 136932511 136932511 single base substitution C G missense_variant L810F 2430G>C CESC-US 6 136934374 136934374 single base substitution G A missense_variant R14C 40C>T CESC-US 6 136934374 136934374 single base substitution G A missense_variant R767C 2299C>T CESC-US 6 136934380 136934380 single base substitution G A missense_variant L12F 34C>T CESC-US 6 136934380 136934380 single base substitution G A missense_variant L765F 2293C>T CESC-US 6 136960681 136960681 deletion of <=200bp T - frameshift_variant K645 CESC-US 6 136960681 136960681 deletion of <=200bp T - splice_region_variant CESC-US 6 136960726 136960726 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant CESC-US 6 136960726 136960726 single base substitution G A missense_variant S630F 1889C>T CESC-US 6 137026254 137026254 single base substitution C G missense_variant K202N 606G>C CESC-US 6 137041602 137041602 single base substitution G C missense_variant L192V 574C>G CESC-US 6 137041623 137041623 single base substitution A C missense_variant C185G 553T>G CESC-US 6 137112890 137112890 single base substitution C G missense_variant D136H 406G>C CLLE-ES 6 136873833 136873833 single base substitution G T downstream_gene_variant CLLE-ES 6 136877224 136877224 single base substitution T A downstream_gene_variant CLLE-ES 6 136899585 136899585 single base substitution A C downstream_gene_variant CLLE-ES 6 136899585 136899585 single base substitution A C intron_variant CLLE-ES 6 136915222 136915222 single base substitution T C intron_variant CLLE-ES 6 136930296 136930296 single base substitution T A intron_variant CLLE-ES 6 136950580 136950580 single base substitution A C intron_variant CLLE-ES 6 136967741 136967741 single base substitution T A intron_variant CLLE-ES 6 136971148 136971148 single base substitution T C intron_variant CLLE-ES 6 136977034 136977034 single base substitution G C intron_variant CLLE-ES 6 137015319 137015319 insertion of <=200bp - A frameshift_variant S404S? CLLE-ES 6 137031017 137031017 single base substitution C T intron_variant CLLE-ES 6 137032378 137032378 single base substitution A G intron_variant CLLE-ES 6 137084515 137084515 single base substitution G T intron_variant CLLE-ES 6 137085627 137085627 single base substitution G A intron_variant CLLE-ES 6 137086653 137086653 single base substitution A C intron_variant CLLE-ES 6 137092966 137092966 single base substitution T C intron_variant CLLE-ES 6 137096089 137096089 single base substitution T C intron_variant CLLE-ES 6 137106832 137106832 single base substitution G C intron_variant CLLE-ES 6 137108214 137108214 single base substitution C T intron_variant COAD-US 6 136901528 136901528 single base substitution C T exon_variant COAD-US 6 136901528 136901528 single base substitution C T missense_variant R1143Q 3428G>A COAD-US 6 136901528 136901528 single base substitution C T missense_variant R390Q 1169G>A COAD-US 6 136904875 136904875 deletion of <=200bp C - exon_variant COAD-US 6 136904875 136904875 deletion of <=200bp C - frameshift_variant A1077 COAD-US 6 136904875 136904875 deletion of <=200bp C - frameshift_variant A324 COAD-US 6 136913340 136913340 single base substitution C T missense_variant V1066M 3196G>A COAD-US 6 136913340 136913340 single base substitution C T missense_variant V313M 937G>A COAD-US 6 136913365 136913365 single base substitution G A synonymous_variant I1057I 3171C>T COAD-US 6 136913365 136913365 single base substitution G A synonymous_variant I304I 912C>T COAD-US 6 136922982 136922982 single base substitution T G missense_variant K186Q 556A>C COAD-US 6 136922982 136922982 single base substitution T G missense_variant K939Q 2815A>C COAD-US 6 136923079 136923079 single base substitution G A synonymous_variant S153S 459C>T COAD-US 6 136923079 136923079 single base substitution G A synonymous_variant S906S 2718C>T COAD-US 6 136926408 136926408 single base substitution T G missense_variant E120A 359A>C COAD-US 6 136926408 136926408 single base substitution T G missense_variant E873A 2618A>C COAD-US 6 136934280 136934280 single base substitution T C missense_variant Q45R 134A>G COAD-US 6 136934280 136934280 single base substitution T C missense_variant Q798R 2393A>G COAD-US 6 136990525 136990525 deletion of <=200bp T - frameshift_variant K421 COAD-US 6 137015387 137015387 single base substitution C T missense_variant E382K 1144G>A COAD-US 6 137018457 137018457 single base substitution A G missense_variant L292S 875T>C COAD-US 6 137019677 137019677 single base substitution A T synonymous_variant P252P 756T>A COAD-US 6 137113137 137113137 single base substitution G A synonymous_variant S53S 159C>T COAD-US 6 137113248 137113248 single base substitution G C missense_variant F16L 48C>G COCA-CN 6 136878754 136878754 single base substitution T G 3_prime_UTR_variant COCA-CN 6 136878912 136878912 single base substitution C T missense_variant R1370Q 4109G>A COCA-CN 6 136878912 136878912 single base substitution C T missense_variant R617Q 1850G>A COCA-CN 6 136880414 136880414 single base substitution C T intron_variant COCA-CN 6 136888931 136888931 single base substitution T C missense_variant E1200G 3599A>G COCA-CN 6 136888931 136888931 single base substitution T C missense_variant E447G 1340A>G COCA-CN 6 136898379 136898379 single base substitution T C downstream_gene_variant COCA-CN 6 136898379 136898379 single base substitution T C intron_variant COCA-CN 6 136904620 136904620 single base substitution G T intron_variant COCA-CN 6 136913612 136913612 single base substitution C A stop_gained E1007* 3019G>T COCA-CN 6 136913612 136913612 single base substitution C A stop_gained E254* 760G>T COCA-CN 6 136914047 136914047 single base substitution A G intron_variant COCA-CN 6 136922119 136922119 single base substitution A G intron_variant COCA-CN 6 136923025 136923025 single base substitution G C missense_variant D171E 513C>G COCA-CN 6 136923025 136923025 single base substitution G C missense_variant D924E 2772C>G COCA-CN 6 136925915 136925915 single base substitution T A intron_variant COCA-CN 6 136932273 136932273 single base substitution G A intron_variant COCA-CN 6 136932277 136932277 single base substitution G A intron_variant COCA-CN 6 136932282 136932282 single base substitution G A intron_variant COCA-CN 6 136932287 136932287 single base substitution G A intron_variant COCA-CN 6 136932296 136932296 single base substitution G A intron_variant COCA-CN 6 136953448 136953448 single base substitution C G intron_variant COCA-CN 6 136963173 136963173 single base substitution T A intron_variant COCA-CN 6 136963772 136963772 single base substitution T G intron_variant COCA-CN 6 136976212 136976212 single base substitution T A intron_variant COCA-CN 6 136990487 136990487 single base substitution T C missense_variant N434D 1300A>G COCA-CN 6 137018680 137018680 single base substitution T C intron_variant COCA-CN 6 137019539 137019539 single base substitution C A intron_variant COCA-CN 6 137026333 137026333 single base substitution T G intron_variant COCA-CN 6 137032813 137032813 single base substitution G A intron_variant COCA-CN 6 137032829 137032829 single base substitution G A intron_variant COCA-CN 6 137035861 137035861 single base substitution A T intron_variant COCA-CN 6 137041687 137041687 single base substitution C T synonymous_variant P163P 489G>A COCA-CN 6 137048442 137048442 single base substitution G C intron_variant COCA-CN 6 137051306 137051306 single base substitution T G intron_variant COCA-CN 6 137051471 137051471 single base substitution T A intron_variant COCA-CN 6 137066288 137066288 single base substitution T G intron_variant COCA-CN 6 137093248 137093248 single base substitution G T intron_variant COCA-CN 6 137112912 137112912 single base substitution T G missense_variant E128D 384A>C COCA-CN 6 137118117 137118117 single base substitution T C upstream_gene_variant EOPC-DE 6 136893584 136893584 single base substitution G A intron_variant EOPC-DE 6 136931812 136931812 single base substitution T A intron_variant EOPC-DE 6 136933560 136933560 single base substitution C T intron_variant EOPC-DE 6 136991655 136991655 single base substitution A C intron_variant EOPC-DE 6 137010167 137010167 single base substitution G C intron_variant EOPC-DE 6 137043434 137043434 single base substitution A G intron_variant EOPC-DE 6 137090569 137090569 single base substitution T C intron_variant ESAD-UK 6 136873655 136873655 single base substitution A G downstream_gene_variant ESAD-UK 6 136884463 136884463 single base substitution A T intron_variant ESAD-UK 6 136886911 136886911 single base substitution C T intron_variant ESAD-UK 6 136887403 136887403 single base substitution A C intron_variant ESAD-UK 6 136890629 136890629 single base substitution C A intron_variant ESAD-UK 6 136890654 136890654 single base substitution G T intron_variant ESAD-UK 6 136890820 136890820 single base substitution C T intron_variant ESAD-UK 6 136891185 136891185 single base substitution C T intron_variant ESAD-UK 6 136893016 136893016 single base substitution T C intron_variant ESAD-UK 6 136893606 136893606 single base substitution G A intron_variant ESAD-UK 6 136894132 136894132 single base substitution A G intron_variant ESAD-UK 6 136895976 136895976 single base substitution C T intron_variant ESAD-UK 6 136898708 136898708 single base substitution T C downstream_gene_variant ESAD-UK 6 136898708 136898708 single base substitution T C intron_variant ESAD-UK 6 136898924 136898924 single base substitution C T downstream_gene_variant ESAD-UK 6 136898924 136898924 single base substitution C T intron_variant ESAD-UK 6 136901237 136901237 single base substitution A G downstream_gene_variant ESAD-UK 6 136901237 136901237 single base substitution A G intron_variant ESAD-UK 6 136901947 136901947 single base substitution A C intron_variant ESAD-UK 6 136905468 136905468 single base substitution G A intron_variant ESAD-UK 6 136905496 136905496 single base substitution G A intron_variant ESAD-UK 6 136906431 136906431 single base substitution C A intron_variant ESAD-UK 6 136906431 136906431 single base substitution C A upstream_gene_variant ESAD-UK 6 136907334 136907334 single base substitution A G intron_variant ESAD-UK 6 136907334 136907334 single base substitution A G upstream_gene_variant ESAD-UK 6 136908327 136908327 single base substitution G A intron_variant ESAD-UK 6 136908327 136908327 single base substitution G A upstream_gene_variant ESAD-UK 6 136909913 136909913 single base substitution G T intron_variant ESAD-UK 6 136909913 136909913 single base substitution G T upstream_gene_variant ESAD-UK 6 136911516 136911516 single base substitution T G intron_variant ESAD-UK 6 136915002 136915002 single base substitution A C intron_variant ESAD-UK 6 136915925 136915925 single base substitution C A intron_variant ESAD-UK 6 136917553 136917553 single base substitution G A intron_variant ESAD-UK 6 136918073 136918073 single base substitution G T intron_variant ESAD-UK 6 136920169 136920169 single base substitution C T intron_variant ESAD-UK 6 136923923 136923923 single base substitution G A intron_variant ESAD-UK 6 136925915 136925915 single base substitution T A intron_variant ESAD-UK 6 136926910 136926910 single base substitution G A intron_variant ESAD-UK 6 136927284 136927284 single base substitution T C intron_variant ESAD-UK 6 136927295 136927295 single base substitution C T intron_variant ESAD-UK 6 136927742 136927742 single base substitution G C intron_variant ESAD-UK 6 136928497 136928497 single base substitution T C intron_variant ESAD-UK 6 136930207 136930207 single base substitution T C intron_variant ESAD-UK 6 136930358 136930358 single base substitution C T intron_variant ESAD-UK 6 136935005 136935005 single base substitution G T intron_variant ESAD-UK 6 136940063 136940065 deletion of <=200bp AAC - intron_variant ESAD-UK 6 136940147 136940147 single base substitution G C intron_variant ESAD-UK 6 136943564 136943564 single base substitution C T intron_variant ESAD-UK 6 136943663 136943663 single base substitution C G intron_variant ESAD-UK 6 136945985 136945985 single base substitution G T intron_variant ESAD-UK 6 136946108 136946108 single base substitution G A intron_variant ESAD-UK 6 136947702 136947702 single base substitution G C intron_variant ESAD-UK 6 136948635 136948635 single base substitution G A intron_variant ESAD-UK 6 136949053 136949053 single base substitution C T intron_variant ESAD-UK 6 136950381 136950381 single base substitution C A intron_variant ESAD-UK 6 136951701 136951701 single base substitution C T intron_variant ESAD-UK 6 136953114 136953114 single base substitution G C intron_variant ESAD-UK 6 136953197 136953197 single base substitution A C intron_variant ESAD-UK 6 136953698 136953698 single base substitution G A intron_variant ESAD-UK 6 136954564 136954564 insertion of <=200bp - TA intron_variant ESAD-UK 6 136957989 136957989 single base substitution G C intron_variant ESAD-UK 6 136959183 136959183 single base substitution T C intron_variant ESAD-UK 6 136961267 136961267 single base substitution G C intron_variant ESAD-UK 6 136963360 136963360 single base substitution G C intron_variant ESAD-UK 6 136966382 136966382 deletion of <=200bp G - intron_variant ESAD-UK 6 136966383 136966383 single base substitution T A intron_variant ESAD-UK 6 136966389 136966389 single base substitution G T intron_variant ESAD-UK 6 136969555 136969555 single base substitution C T intron_variant ESAD-UK 6 136971530 136971530 single base substitution G A intron_variant ESAD-UK 6 136971851 136971851 single base substitution G C intron_variant ESAD-UK 6 136972720 136972720 single base substitution G C intron_variant ESAD-UK 6 136973316 136973316 single base substitution C A intron_variant ESAD-UK 6 136973461 136973461 single base substitution A G intron_variant ESAD-UK 6 136973590 136973590 single base substitution T G intron_variant ESAD-UK 6 136973695 136973695 single base substitution G A intron_variant ESAD-UK 6 136973805 136973805 single base substitution T A intron_variant ESAD-UK 6 136977349 136977349 single base substitution G T intron_variant ESAD-UK 6 136979154 136979154 single base substitution A G intron_variant ESAD-UK 6 136979154 136979154 single base substitution A G upstream_gene_variant ESAD-UK 6 136980737 136980737 single base substitution A C intron_variant ESAD-UK 6 136980737 136980737 single base substitution A C upstream_gene_variant ESAD-UK 6 136981335 136981335 single base substitution G A intron_variant ESAD-UK 6 136981335 136981335 single base substitution G A upstream_gene_variant ESAD-UK 6 136981505 136981505 single base substitution C T intron_variant ESAD-UK 6 136981505 136981505 single base substitution C T upstream_gene_variant ESAD-UK 6 136983653 136983653 single base substitution C G intron_variant ESAD-UK 6 136985770 136985770 single base substitution A G intron_variant ESAD-UK 6 136986303 136986303 single base substitution A G intron_variant ESAD-UK 6 136986320 136986320 single base substitution A G intron_variant ESAD-UK 6 136986468 136986468 single base substitution T C intron_variant ESAD-UK 6 136986523 136986523 single base substitution C T intron_variant ESAD-UK 6 136990050 136990050 single base substitution A G intron_variant ESAD-UK 6 136990413 136990413 single base substitution G C splice_region_variant ESAD-UK 6 136991769 136991769 single base substitution C A intron_variant ESAD-UK 6 136995698 136995698 single base substitution A G intron_variant ESAD-UK 6 136995826 136995826 single base substitution A C intron_variant ESAD-UK 6 136997099 136997099 single base substitution C T intron_variant ESAD-UK 6 136997396 136997396 single base substitution G A intron_variant ESAD-UK 6 136999317 136999317 single base substitution A C intron_variant ESAD-UK 6 137002514 137002514 single base substitution G C intron_variant ESAD-UK 6 137005366 137005366 single base substitution T A intron_variant ESAD-UK 6 137005368 137005368 single base substitution A T intron_variant ESAD-UK 6 137005470 137005470 single base substitution T G intron_variant ESAD-UK 6 137005631 137005631 single base substitution A T intron_variant ESAD-UK 6 137006444 137006444 single base substitution A C intron_variant ESAD-UK 6 137010612 137010612 single base substitution C T intron_variant ESAD-UK 6 137010689 137010689 single base substitution G C intron_variant ESAD-UK 6 137014238 137014238 single base substitution G A intron_variant ESAD-UK 6 137018791 137018791 single base substitution C A intron_variant ESAD-UK 6 137020097 137020097 single base substitution A C intron_variant ESAD-UK 6 137021486 137021486 single base substitution T C intron_variant ESAD-UK 6 137021930 137021930 single base substitution A G intron_variant ESAD-UK 6 137024173 137024173 insertion of <=200bp - A intron_variant ESAD-UK 6 137025619 137025619 single base substitution G C intron_variant ESAD-UK 6 137027791 137027791 single base substitution G A intron_variant ESAD-UK 6 137033815 137033815 single base substitution C T intron_variant ESAD-UK 6 137036100 137036100 single base substitution T G intron_variant ESAD-UK 6 137037618 137037618 single base substitution C T intron_variant ESAD-UK 6 137038499 137038499 single base substitution T A intron_variant ESAD-UK 6 137041098 137041098 single base substitution G C intron_variant ESAD-UK 6 137043981 137043981 single base substitution T G intron_variant ESAD-UK 6 137045100 137045100 single base substitution A C intron_variant ESAD-UK 6 137049200 137049200 single base substitution T A intron_variant ESAD-UK 6 137050910 137050910 single base substitution C T intron_variant ESAD-UK 6 137051302 137051302 single base substitution T G intron_variant ESAD-UK 6 137054427 137054427 single base substitution C T intron_variant ESAD-UK 6 137055118 137055118 single base substitution C T intron_variant ESAD-UK 6 137058458 137058458 single base substitution G A intron_variant ESAD-UK 6 137059053 137059053 single base substitution C T intron_variant ESAD-UK 6 137060240 137060240 single base substitution C A intron_variant ESAD-UK 6 137060402 137060402 single base substitution G T intron_variant ESAD-UK 6 137061560 137061560 single base substitution C T intron_variant ESAD-UK 6 137064106 137064106 single base substitution G C intron_variant ESAD-UK 6 137064195 137064195 single base substitution T C intron_variant ESAD-UK 6 137068937 137068937 single base substitution G C intron_variant ESAD-UK 6 137069211 137069211 single base substitution G C intron_variant ESAD-UK 6 137069764 137069764 single base substitution G T intron_variant ESAD-UK 6 137070904 137070904 single base substitution C T intron_variant ESAD-UK 6 137071771 137071771 single base substitution G T intron_variant ESAD-UK 6 137072532 137072532 single base substitution T C intron_variant ESAD-UK 6 137075151 137075151 single base substitution G A intron_variant ESAD-UK 6 137078732 137078732 single base substitution T A intron_variant ESAD-UK 6 137081901 137081901 single base substitution A G intron_variant ESAD-UK 6 137088523 137088523 single base substitution G A intron_variant ESAD-UK 6 137093846 137093846 single base substitution C T intron_variant ESAD-UK 6 137094375 137094375 single base substitution C G intron_variant ESAD-UK 6 137095710 137095710 single base substitution T C intron_variant ESAD-UK 6 137096423 137096423 single base substitution T C intron_variant ESAD-UK 6 137096765 137096765 single base substitution A C intron_variant ESAD-UK 6 137101533 137101533 single base substitution C T intron_variant ESAD-UK 6 137102664 137102664 single base substitution G A intron_variant ESAD-UK 6 137105706 137105706 single base substitution G C intron_variant ESAD-UK 6 137109657 137109657 single base substitution C G intron_variant ESAD-UK 6 137112831 137112831 single base substitution A C intron_variant ESAD-UK 6 137117545 137117545 single base substitution G T upstream_gene_variant ESCA-CN 6 136932503 136932503 single base substitution G A missense_variant T60I 179C>T ESCA-CN 6 136932503 136932503 single base substitution G A missense_variant T813I 2438C>T ESCA-CN 6 136934257 136934257 single base substitution C A splice_donor_variant ESCA-CN 6 136977481 136977481 single base substitution C G 5_prime_UTR_variant ESCA-CN 6 136977481 136977481 single base substitution C G missense_variant E548D 1644G>C ESCA-CN 6 137041663 137041663 single base substitution C T synonymous_variant V171V 513G>A GBM-US 6 137041637 137041637 single base substitution T C missense_variant N180S 539A>G KIRC-US 6 136879991 136879991 single base substitution T C synonymous_variant L1337L 4011A>G KIRC-US 6 136879991 136879991 single base substitution T C synonymous_variant L584L 1752A>G KIRC-US 6 136923035 136923035 single base substitution G C missense_variant P168R 503C>G KIRC-US 6 136923035 136923035 single base substitution G C missense_variant P921R 2762C>G KIRC-US 6 136932484 136932484 single base substitution C A missense_variant K66N 198G>T KIRC-US 6 136932484 136932484 single base substitution C A missense_variant K819N 2457G>T KIRC-US 6 136972151 136972151 single base substitution A C 5_prime_UTR_variant KIRC-US 6 136972151 136972151 single base substitution A C missense_variant S587A 1759T>G KIRC-US 6 137015318 137015318 insertion of <=200bp - A frameshift_variant N405I? KIRC-US 6 137112970 137112970 single base substitution T A missense_variant E109V 326A>T LAML-KR 6 136963778 136963778 single base substitution A G intron_variant LAML-KR 6 136979471 136979471 single base substitution G T intron_variant LAML-KR 6 136979471 136979471 single base substitution G T upstream_gene_variant LAML-KR 6 136990283 136990283 single base substitution T C intron_variant LAML-KR 6 136998077 136998077 single base substitution A C intron_variant LGG-US 6 136932510 136932510 single base substitution T C missense_variant I58V 172A>G LGG-US 6 136932510 136932510 single base substitution T C missense_variant I811V 2431A>G LGG-US 6 136935398 136935398 single base substitution A G 5_prime_UTR_variant LGG-US 6 136935398 136935398 single base substitution A G missense_variant I726T 2177T>C LICA-FR 6 136874276 136874276 single base substitution C T downstream_gene_variant LICA-FR 6 136894151 136894151 single base substitution A C intron_variant LICA-FR 6 136904714 136904714 single base substitution T C exon_variant LICA-FR 6 136904714 136904714 single base substitution T C synonymous_variant V1130V 3390A>G LICA-FR 6 136904714 136904714 single base substitution T C synonymous_variant V377V 1131A>G LICA-FR 6 136906781 136906781 single base substitution G A intron_variant LICA-FR 6 136906781 136906781 single base substitution G A upstream_gene_variant LICA-FR 6 136928137 136928137 single base substitution C T intron_variant LICA-FR 6 136934186 136934186 single base substitution T C intron_variant LICA-FR 6 136963167 136963167 single base substitution T A intron_variant LICA-FR 6 136963168 136963168 single base substitution A T intron_variant LICA-FR 6 136973872 136973872 single base substitution G A intron_variant LICA-FR 6 136976846 136976851 deletion of <=200bp GTGTGT - intron_variant LICA-FR 6 136984745 136984745 deletion of <=200bp T - intron_variant LICA-FR 6 136997528 136997528 single base substitution T G intron_variant LICA-FR 6 137001928 137001928 single base substitution C A intron_variant LICA-FR 6 137026247 137026247 single base substitution C T splice_donor_variant LICA-FR 6 137026534 137026534 single base substitution G T intron_variant LICA-FR 6 137055524 137055524 single base substitution C T intron_variant LICA-FR 6 137071274 137071274 single base substitution G A intron_variant LICA-FR 6 137108008 137108008 single base substitution T C intron_variant LIHC-US 6 136882716 136882716 single base substitution G T synonymous_variant T1314T 3942C>A LIHC-US 6 136882716 136882716 single base substitution G T synonymous_variant T561T 1683C>A LIHC-US 6 136913604 136913604 single base substitution A G synonymous_variant D1009D 3027T>C LIHC-US 6 136913604 136913604 single base substitution A G synonymous_variant D256D 768T>C LIHC-US 6 136932527 136932527 single base substitution T C splice_acceptor_variant LIHC-US 6 136935403 136935403 single base substitution T C 5_prime_UTR_variant LIHC-US 6 136935403 136935403 single base substitution T C synonymous_variant E724E 2172A>G LIHC-US 6 137041704 137041704 single base substitution C T missense_variant D158N 472G>A LINC-JP 6 136889113 136889113 single base substitution T C intron_variant LINC-JP 6 136896359 136896359 single base substitution G A intron_variant LINC-JP 6 136897699 136897699 single base substitution C A downstream_gene_variant LINC-JP 6 136897699 136897699 single base substitution C A intron_variant LINC-JP 6 136904955 136904955 single base substitution C T intron_variant LINC-JP 6 136907042 136907042 single base substitution T C intron_variant LINC-JP 6 136907042 136907042 single base substitution T C upstream_gene_variant LINC-JP 6 136908281 136908281 single base substitution C A intron_variant LINC-JP 6 136908281 136908281 single base substitution C A upstream_gene_variant LINC-JP 6 136932615 136932615 single base substitution A G intron_variant LINC-JP 6 136937085 136937085 single base substitution T G intron_variant LINC-JP 6 136949952 136949952 single base substitution T C intron_variant LINC-JP 6 136951726 136951726 deletion of <=200bp T - intron_variant LINC-JP 6 136951855 136951855 single base substitution C T intron_variant LINC-JP 6 136956267 136956267 deletion of <=200bp A - intron_variant LINC-JP 6 136971715 136971715 single base substitution A G intron_variant LINC-JP 6 136990395 136990395 single base substitution C T intron_variant LINC-JP 6 136993962 136993962 single base substitution T C intron_variant LINC-JP 6 137000107 137000107 single base substitution A C intron_variant LINC-JP 6 137002985 137002985 single base substitution A G intron_variant LINC-JP 6 137009973 137009973 single base substitution A G intron_variant LINC-JP 6 137010135 137010135 deletion of <=200bp A - intron_variant LINC-JP 6 137013635 137013635 single base substitution T C intron_variant LINC-JP 6 137018348 137018350 deletion of <=200bp TCT - splice_region_variant LINC-JP 6 137026840 137026840 single base substitution T A intron_variant LINC-JP 6 137026841 137026841 single base substitution A C intron_variant LINC-JP 6 137039953 137039953 single base substitution G A intron_variant LINC-JP 6 137041449 137041449 single base substitution T C intron_variant LINC-JP 6 137072289 137072289 deletion of <=200bp T - intron_variant LINC-JP 6 137081281 137081281 single base substitution T C intron_variant LINC-JP 6 137113703 137113703 single base substitution C A upstream_gene_variant LIRI-JP 6 136873716 136873716 single base substitution A C downstream_gene_variant LIRI-JP 6 136874945 136874945 single base substitution C T downstream_gene_variant LIRI-JP 6 136875025 136875025 single base substitution A G downstream_gene_variant LIRI-JP 6 136877337 136877337 single base substitution C A downstream_gene_variant LIRI-JP 6 136880019 136880019 single base substitution A G splice_region_variant LIRI-JP 6 136881272 136881272 single base substitution T G intron_variant LIRI-JP 6 136881595 136881595 single base substitution C T intron_variant LIRI-JP 6 136885367 136885367 single base substitution C A intron_variant LIRI-JP 6 136885841 136885841 single base substitution A C intron_variant LIRI-JP 6 136885895 136885895 single base substitution G A intron_variant LIRI-JP 6 136885996 136885996 single base substitution C T intron_variant LIRI-JP 6 136887422 136887422 single base substitution T C intron_variant LIRI-JP 6 136887746 136887746 single base substitution G A intron_variant LIRI-JP 6 136887747 136887747 single base substitution C T intron_variant LIRI-JP 6 136888520 136888520 single base substitution T A intron_variant LIRI-JP 6 136891500 136891500 single base substitution T C intron_variant LIRI-JP 6 136891644 136891644 single base substitution C G intron_variant LIRI-JP 6 136892222 136892222 single base substitution T A intron_variant LIRI-JP 6 136892223 136892223 single base substitution C T intron_variant LIRI-JP 6 136894154 136894154 single base substitution T C intron_variant LIRI-JP 6 136894282 136894282 single base substitution A C intron_variant LIRI-JP 6 136895908 136895908 single base substitution G T intron_variant LIRI-JP 6 136896123 136896123 single base substitution G T intron_variant LIRI-JP 6 136897178 136897178 single base substitution T C downstream_gene_variant LIRI-JP 6 136897178 136897178 single base substitution T C intron_variant LIRI-JP 6 136900211 136900211 single base substitution T G downstream_gene_variant LIRI-JP 6 136900211 136900211 single base substitution T G intron_variant LIRI-JP 6 136906848 136906848 single base substitution T A intron_variant LIRI-JP 6 136906848 136906848 single base substitution T A upstream_gene_variant LIRI-JP 6 136906996 136906996 single base substitution T C intron_variant LIRI-JP 6 136906996 136906996 single base substitution T C upstream_gene_variant LIRI-JP 6 136914000 136914000 single base substitution T A intron_variant LIRI-JP 6 136917465 136917465 single base substitution G T intron_variant LIRI-JP 6 136919000 136919000 single base substitution G A intron_variant LIRI-JP 6 136925279 136925279 single base substitution G C intron_variant LIRI-JP 6 136928410 136928410 single base substitution T C intron_variant LIRI-JP 6 136933340 136933340 single base substitution T C intron_variant LIRI-JP 6 136933414 136933414 single base substitution T A intron_variant LIRI-JP 6 136933415 136933415 single base substitution C G intron_variant LIRI-JP 6 136934432 136934432 single base substitution C A intron_variant LIRI-JP 6 136934750 136934750 single base substitution T C intron_variant LIRI-JP 6 136935264 136935264 single base substitution T C intron_variant LIRI-JP 6 136936178 136936178 single base substitution T C intron_variant LIRI-JP 6 136937733 136937733 single base substitution A G intron_variant LIRI-JP 6 136941107 136941107 single base substitution G A intron_variant LIRI-JP 6 136944715 136944715 single base substitution T C intron_variant LIRI-JP 6 136946878 136946878 single base substitution A G intron_variant LIRI-JP 6 136949068 136949068 single base substitution T C intron_variant LIRI-JP 6 136949784 136949785 deletion of <=200bp CG - intron_variant LIRI-JP 6 136951041 136951041 single base substitution C A intron_variant LIRI-JP 6 136953134 136953134 single base substitution A G intron_variant LIRI-JP 6 136956069 136956069 single base substitution C G intron_variant LIRI-JP 6 136956994 136956994 single base substitution T C intron_variant LIRI-JP 6 136959061 136959061 single base substitution C A intron_variant LIRI-JP 6 136960258 136960258 single base substitution A G intron_variant LIRI-JP 6 136960262 136960262 single base substitution A G intron_variant LIRI-JP 6 136963870 136963870 single base substitution A C intron_variant LIRI-JP 6 136965823 136965823 single base substitution A C intron_variant LIRI-JP 6 136965964 136965964 single base substitution G A intron_variant LIRI-JP 6 136970210 136970210 single base substitution C A intron_variant LIRI-JP 6 136971859 136971859 single base substitution T C intron_variant LIRI-JP 6 136972457 136972457 single base substitution G A intron_variant LIRI-JP 6 136972510 136972510 single base substitution T A intron_variant LIRI-JP 6 136972511 136972511 single base substitution C A intron_variant LIRI-JP 6 136973304 136973304 single base substitution A G intron_variant LIRI-JP 6 136975547 136975547 single base substitution T C intron_variant LIRI-JP 6 136976892 136976892 single base substitution T C intron_variant LIRI-JP 6 136978333 136978333 single base substitution T C intron_variant LIRI-JP 6 136978333 136978333 single base substitution T C upstream_gene_variant LIRI-JP 6 136980177 136980177 single base substitution T C intron_variant LIRI-JP 6 136980177 136980177 single base substitution T C upstream_gene_variant LIRI-JP 6 136983509 136983509 single base substitution T C intron_variant LIRI-JP 6 136983846 136983847 deletion of <=200bp AT - intron_variant LIRI-JP 6 136984279 136984279 single base substitution T C intron_variant LIRI-JP 6 136985817 136985817 single base substitution G A intron_variant LIRI-JP 6 136987914 136987914 single base substitution T C intron_variant LIRI-JP 6 136988460 136988460 single base substitution T C intron_variant LIRI-JP 6 136991469 136991469 single base substitution T C intron_variant LIRI-JP 6 136993404 136993404 single base substitution T C intron_variant LIRI-JP 6 136993579 136993579 single base substitution T C intron_variant LIRI-JP 6 136994270 136994270 single base substitution C T intron_variant LIRI-JP 6 136996432 136996432 single base substitution T C intron_variant LIRI-JP 6 136996450 136996450 single base substitution T A intron_variant LIRI-JP 6 136998751 136998751 single base substitution T A intron_variant LIRI-JP 6 136998796 136998796 single base substitution G A intron_variant LIRI-JP 6 136998860 136998860 single base substitution A G intron_variant LIRI-JP 6 136999430 136999430 single base substitution T C intron_variant LIRI-JP 6 137003534 137003534 single base substitution T C intron_variant LIRI-JP 6 137003904 137003904 single base substitution G C intron_variant LIRI-JP 6 137004390 137004390 single base substitution G A intron_variant LIRI-JP 6 137007552 137007552 single base substitution T C intron_variant LIRI-JP 6 137008272 137008272 single base substitution T C intron_variant LIRI-JP 6 137012024 137012024 single base substitution G T intron_variant LIRI-JP 6 137013891 137013891 single base substitution T C intron_variant LIRI-JP 6 137015170 137015170 single base substitution T C intron_variant LIRI-JP 6 137016084 137016084 single base substitution G T intron_variant LIRI-JP 6 137017169 137017169 single base substitution T C synonymous_variant V334V 1002A>G LIRI-JP 6 137018881 137018881 single base substitution T G intron_variant LIRI-JP 6 137024146 137024146 single base substitution T C intron_variant LIRI-JP 6 137025161 137025161 single base substitution T C intron_variant LIRI-JP 6 137025658 137025658 deletion of <=200bp T - intron_variant LIRI-JP 6 137025801 137025801 single base substitution A G intron_variant LIRI-JP 6 137025978 137025978 single base substitution C T intron_variant LIRI-JP 6 137027607 137027607 single base substitution A T intron_variant LIRI-JP 6 137030759 137030759 single base substitution C T intron_variant LIRI-JP 6 137034469 137034469 single base substitution G A intron_variant LIRI-JP 6 137034946 137034946 single base substitution T A intron_variant LIRI-JP 6 137036979 137036979 single base substitution G C intron_variant LIRI-JP 6 137037342 137037342 single base substitution A G intron_variant LIRI-JP 6 137037360 137037360 single base substitution T C intron_variant LIRI-JP 6 137038815 137038818 deletion of <=200bp TAAC - intron_variant LIRI-JP 6 137041696 137041696 single base substitution G T missense_variant F160L 480C>A LIRI-JP 6 137042128 137042128 single base substitution G T intron_variant LIRI-JP 6 137042947 137042947 single base substitution G C intron_variant LIRI-JP 6 137044489 137044489 single base substitution T C intron_variant LIRI-JP 6 137045454 137045454 single base substitution T A intron_variant LIRI-JP 6 137045549 137045549 single base substitution C A intron_variant LIRI-JP 6 137046037 137046037 single base substitution A G intron_variant LIRI-JP 6 137050197 137050200 deletion of <=200bp CAGG - intron_variant LIRI-JP 6 137051530 137051530 single base substitution G A intron_variant LIRI-JP 6 137051567 137051567 single base substitution G A intron_variant LIRI-JP 6 137056770 137056770 single base substitution C A intron_variant LIRI-JP 6 137057075 137057075 single base substitution T A intron_variant LIRI-JP 6 137057755 137057755 single base substitution A G intron_variant LIRI-JP 6 137058745 137058745 single base substitution T C intron_variant LIRI-JP 6 137058809 137058809 single base substitution A G intron_variant LIRI-JP 6 137060476 137060476 single base substitution T C intron_variant LIRI-JP 6 137060546 137060546 single base substitution A C intron_variant LIRI-JP 6 137061317 137061317 single base substitution T C intron_variant LIRI-JP 6 137063040 137063040 single base substitution C A intron_variant LIRI-JP 6 137064149 137064149 single base substitution C A intron_variant LIRI-JP 6 137069053 137069053 single base substitution A C intron_variant LIRI-JP 6 137069878 137069878 single base substitution A G intron_variant LIRI-JP 6 137071827 137071827 single base substitution T C intron_variant LIRI-JP 6 137072972 137072972 single base substitution C T intron_variant LIRI-JP 6 137077127 137077127 single base substitution G C intron_variant LIRI-JP 6 137081471 137081471 single base substitution T C intron_variant LIRI-JP 6 137082537 137082537 single base substitution G C intron_variant LIRI-JP 6 137083268 137083268 single base substitution C A intron_variant LIRI-JP 6 137084613 137084613 single base substitution A G intron_variant LIRI-JP 6 137086569 137086569 single base substitution G C intron_variant LIRI-JP 6 137089343 137089343 single base substitution T C intron_variant LIRI-JP 6 137097335 137097335 single base substitution G T intron_variant LIRI-JP 6 137102105 137102105 single base substitution T C intron_variant LIRI-JP 6 137103852 137103852 single base substitution T C intron_variant LIRI-JP 6 137103992 137103992 single base substitution A T intron_variant LIRI-JP 6 137104026 137104026 single base substitution A T intron_variant LIRI-JP 6 137105061 137105064 deletion of <=200bp AAAG - intron_variant LIRI-JP 6 137106945 137106945 single base substitution C T intron_variant LIRI-JP 6 137115367 137115367 single base substitution C A upstream_gene_variant LIRI-JP 6 137115868 137115868 single base substitution A G upstream_gene_variant LIRI-JP 6 137117961 137117961 single base substitution G T upstream_gene_variant LIRI-JP 6 137118140 137118140 single base substitution A G upstream_gene_variant LUSC-KR 6 136873248 136873248 single base substitution C T downstream_gene_variant LUSC-KR 6 136886838 136886838 single base substitution C T intron_variant LUSC-KR 6 136895845 136895845 single base substitution G T intron_variant LUSC-KR 6 136901702 136901702 single base substitution A T intron_variant LUSC-KR 6 136905143 136905143 single base substitution G T intron_variant LUSC-KR 6 136906615 136906615 single base substitution A C intron_variant LUSC-KR 6 136906615 136906615 single base substitution A C upstream_gene_variant LUSC-KR 6 136906655 136906655 single base substitution T A intron_variant LUSC-KR 6 136906655 136906655 single base substitution T A upstream_gene_variant LUSC-KR 6 136925915 136925915 single base substitution T A intron_variant LUSC-KR 6 136928929 136928929 single base substitution C A intron_variant LUSC-KR 6 136929938 136929938 single base substitution G A intron_variant LUSC-KR 6 136931720 136931720 single base substitution C A intron_variant LUSC-KR 6 136935068 136935068 single base substitution G T intron_variant LUSC-KR 6 136935807 136935807 single base substitution T C intron_variant LUSC-KR 6 136936590 136936590 single base substitution T C intron_variant LUSC-KR 6 136938504 136938504 single base substitution G C intron_variant LUSC-KR 6 136938710 136938710 single base substitution G C intron_variant LUSC-KR 6 136939259 136939259 single base substitution G C intron_variant LUSC-KR 6 136943884 136943884 single base substitution T C intron_variant LUSC-KR 6 136946039 136946039 single base substitution G C intron_variant LUSC-KR 6 136952342 136952342 single base substitution G C intron_variant LUSC-KR 6 136956452 136956452 single base substitution G A intron_variant LUSC-KR 6 136959314 136959314 single base substitution G C intron_variant LUSC-KR 6 136962175 136962175 single base substitution T C intron_variant LUSC-KR 6 136963596 136963596 single base substitution C G intron_variant LUSC-KR 6 136967609 136967609 single base substitution T C intron_variant LUSC-KR 6 136968638 136968638 single base substitution C G intron_variant LUSC-KR 6 136970390 136970390 single base substitution G C intron_variant LUSC-KR 6 136970760 136970760 single base substitution C G intron_variant LUSC-KR 6 136970856 136970856 single base substitution G A intron_variant LUSC-KR 6 136971582 136971582 single base substitution G A intron_variant LUSC-KR 6 136973254 136973254 single base substitution C A intron_variant LUSC-KR 6 136977702 136977702 single base substitution T C intron_variant LUSC-KR 6 136977702 136977702 single base substitution T C upstream_gene_variant LUSC-KR 6 136989335 136989335 single base substitution T C intron_variant LUSC-KR 6 136989982 136989982 single base substitution C T intron_variant LUSC-KR 6 137002188 137002188 single base substitution G A intron_variant LUSC-KR 6 137005425 137005425 single base substitution C G intron_variant LUSC-KR 6 137007176 137007176 single base substitution G A intron_variant LUSC-KR 6 137007906 137007906 single base substitution A C intron_variant LUSC-KR 6 137008090 137008090 single base substitution G C intron_variant LUSC-KR 6 137010204 137010204 single base substitution G A intron_variant LUSC-KR 6 137011496 137011496 single base substitution G T intron_variant LUSC-KR 6 137013534 137013534 single base substitution C A intron_variant LUSC-KR 6 137018325 137018325 single base substitution C A intron_variant LUSC-KR 6 137024018 137024018 single base substitution G C intron_variant LUSC-KR 6 137024722 137024722 single base substitution G A intron_variant LUSC-KR 6 137027169 137027169 single base substitution G A intron_variant LUSC-KR 6 137030935 137030935 single base substitution T C intron_variant LUSC-KR 6 137034467 137034467 single base substitution G A intron_variant LUSC-KR 6 137036110 137036110 single base substitution G A intron_variant LUSC-KR 6 137036183 137036183 single base substitution G C intron_variant LUSC-KR 6 137041833 137041833 single base substitution C T intron_variant LUSC-KR 6 137042617 137042617 single base substitution G C intron_variant LUSC-KR 6 137044530 137044530 single base substitution T C intron_variant LUSC-KR 6 137045407 137045407 single base substitution G A intron_variant LUSC-KR 6 137046233 137046233 single base substitution G A intron_variant LUSC-KR 6 137047348 137047348 single base substitution G C intron_variant LUSC-KR 6 137059288 137059288 single base substitution G C intron_variant LUSC-KR 6 137061572 137061572 single base substitution C G intron_variant LUSC-KR 6 137061988 137061988 single base substitution C T intron_variant LUSC-KR 6 137062636 137062636 single base substitution C G intron_variant LUSC-KR 6 137069890 137069890 single base substitution G C intron_variant LUSC-KR 6 137070585 137070585 single base substitution C T intron_variant LUSC-KR 6 137073570 137073570 single base substitution G C intron_variant LUSC-KR 6 137075425 137075425 single base substitution G C intron_variant LUSC-KR 6 137079250 137079250 single base substitution T A intron_variant LUSC-KR 6 137082581 137082581 single base substitution A G intron_variant LUSC-KR 6 137090255 137090255 single base substitution G C intron_variant LUSC-KR 6 137092963 137092963 single base substitution A G intron_variant LUSC-KR 6 137093651 137093651 single base substitution G T intron_variant LUSC-KR 6 137100980 137100980 single base substitution G C intron_variant LUSC-KR 6 137101166 137101166 single base substitution C T intron_variant LUSC-KR 6 137108966 137108966 single base substitution C G intron_variant LUSC-KR 6 137114896 137114896 single base substitution G T upstream_gene_variant LUSC-US 6 136888770 136888770 single base substitution T A stop_gained R1254* 3760A>T LUSC-US 6 136888770 136888770 single base substitution T A stop_gained R501* 1501A>T LUSC-US 6 136904834 136904834 single base substitution G C exon_variant LUSC-US 6 136904834 136904834 single base substitution G C synonymous_variant L1090L 3270C>G LUSC-US 6 136904834 136904834 single base substitution G C synonymous_variant L337L 1011C>G LUSC-US 6 136913588 136913588 single base substitution T C missense_variant T1015A 3043A>G LUSC-US 6 136913588 136913588 single base substitution T C missense_variant T262A 784A>G LUSC-US 6 136923061 136923061 single base substitution C T synonymous_variant K159K 477G>A LUSC-US 6 136923061 136923061 single base substitution C T synonymous_variant K912K 2736G>A LUSC-US 6 136926462 136926462 single base substitution G C missense_variant P102R 305C>G LUSC-US 6 136926462 136926462 single base substitution G C missense_variant P855R 2564C>G LUSC-US 6 136934373 136934373 single base substitution C T missense_variant R14H 41G>A LUSC-US 6 136934373 136934373 single base substitution C T missense_variant R767H 2300G>A LUSC-US 6 136990473 136990473 single base substitution G C synonymous_variant L438L 1314C>G MALY-DE 6 136873706 136873706 single base substitution A G downstream_gene_variant MALY-DE 6 136889946 136889946 single base substitution A T intron_variant MALY-DE 6 136901834 136901834 single base substitution T A intron_variant MALY-DE 6 136906584 136906584 single base substitution G C intron_variant MALY-DE 6 136906584 136906584 single base substitution G C upstream_gene_variant MALY-DE 6 136907661 136907661 single base substitution C G intron_variant MALY-DE 6 136907661 136907661 single base substitution C G upstream_gene_variant MALY-DE 6 136920614 136920615 deletion of <=200bp TC - intron_variant MALY-DE 6 136924624 136924624 single base substitution C T intron_variant MALY-DE 6 136925813 136925813 single base substitution C T intron_variant MALY-DE 6 136930057 136930057 single base substitution T G intron_variant MALY-DE 6 136931131 136931131 single base substitution C G intron_variant MALY-DE 6 136931229 136931229 single base substitution T A intron_variant MALY-DE 6 136931278 136931278 deletion of <=200bp T - intron_variant MALY-DE 6 136937351 136937351 single base substitution G A intron_variant MALY-DE 6 136944417 136944417 single base substitution T A intron_variant MALY-DE 6 136944662 136944662 deletion of <=200bp T - intron_variant MALY-DE 6 136953838 136953838 single base substitution G A intron_variant MALY-DE 6 136953877 136953877 single base substitution A G intron_variant MALY-DE 6 136965040 136965041 deletion of <=200bp AT - intron_variant MALY-DE 6 136969399 136969399 single base substitution A T intron_variant MALY-DE 6 136973003 136973003 single base substitution T C intron_variant MALY-DE 6 136982983 136982983 single base substitution A C intron_variant MALY-DE 6 136984661 136984661 single base substitution G T intron_variant MALY-DE 6 136988687 136988687 single base substitution C A intron_variant MALY-DE 6 136997621 136997621 single base substitution G A intron_variant MALY-DE 6 136998567 136998567 single base substitution A G intron_variant MALY-DE 6 136998741 136998741 single base substitution G A intron_variant MALY-DE 6 136999287 136999287 single base substitution T A intron_variant MALY-DE 6 137001189 137001190 deletion of <=200bp CA - intron_variant MALY-DE 6 137009257 137009257 single base substitution G A intron_variant MALY-DE 6 137011325 137011325 single base substitution G A intron_variant MALY-DE 6 137024362 137024362 single base substitution A T intron_variant MALY-DE 6 137031156 137031156 single base substitution C T intron_variant MALY-DE 6 137040620 137040620 single base substitution T C intron_variant MALY-DE 6 137060081 137060082 deletion of <=200bp CA - intron_variant MALY-DE 6 137066887 137066887 insertion of <=200bp - A intron_variant MALY-DE 6 137080925 137080925 single base substitution C G intron_variant MALY-DE 6 137082962 137082962 single base substitution A C intron_variant MALY-DE 6 137086888 137086888 single base substitution G A intron_variant MALY-DE 6 137093757 137093757 single base substitution G A intron_variant MALY-DE 6 137093883 137093883 single base substitution T A intron_variant MALY-DE 6 137099254 137099254 single base substitution T C intron_variant MALY-DE 6 137100606 137100606 single base substitution A G intron_variant MALY-DE 6 137105777 137105777 single base substitution G A intron_variant MALY-DE 6 137112496 137112496 single base substitution A T intron_variant MALY-DE 6 137112720 137112720 single base substitution G A intron_variant MELA-AU 6 136873353 136873353 single base substitution C T downstream_gene_variant MELA-AU 6 136873461 136873461 single base substitution C T downstream_gene_variant MELA-AU 6 136873789 136873789 single base substitution C T downstream_gene_variant MELA-AU 6 136873849 136873849 single base substitution G A downstream_gene_variant MELA-AU 6 136873990 136873990 single base substitution T C downstream_gene_variant MELA-AU 6 136874078 136874078 single base substitution G A downstream_gene_variant MELA-AU 6 136874085 136874085 single base substitution C T downstream_gene_variant MELA-AU 6 136874161 136874161 single base substitution C T downstream_gene_variant MELA-AU 6 136874263 136874264 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 136874265 136874265 single base substitution C T downstream_gene_variant MELA-AU 6 136874349 136874349 single base substitution T G downstream_gene_variant MELA-AU 6 136874610 136874610 single base substitution C T downstream_gene_variant MELA-AU 6 136874682 136874682 single base substitution A G downstream_gene_variant MELA-AU 6 136875063 136875063 single base substitution C T downstream_gene_variant MELA-AU 6 136875157 136875157 single base substitution G A downstream_gene_variant MELA-AU 6 136875312 136875312 single base substitution C T downstream_gene_variant MELA-AU 6 136876028 136876028 single base substitution G A downstream_gene_variant MELA-AU 6 136876606 136876606 single base substitution C T downstream_gene_variant MELA-AU 6 136876677 136876677 single base substitution G A downstream_gene_variant MELA-AU 6 136877136 136877136 single base substitution G A downstream_gene_variant MELA-AU 6 136877333 136877333 single base substitution G A downstream_gene_variant MELA-AU 6 136877354 136877354 single base substitution C T downstream_gene_variant MELA-AU 6 136877437 136877437 single base substitution G A downstream_gene_variant MELA-AU 6 136877472 136877472 single base substitution C T downstream_gene_variant MELA-AU 6 136877755 136877755 single base substitution C T downstream_gene_variant MELA-AU 6 136877874 136877874 single base substitution C T downstream_gene_variant MELA-AU 6 136877893 136877893 single base substitution G A downstream_gene_variant MELA-AU 6 136877955 136877955 single base substitution G A downstream_gene_variant MELA-AU 6 136878280 136878280 single base substitution G A 3_prime_UTR_variant MELA-AU 6 136878280 136878280 single base substitution G A downstream_gene_variant MELA-AU 6 136878621 136878621 single base substitution A T 3_prime_UTR_variant MELA-AU 6 136878729 136878729 single base substitution G A 3_prime_UTR_variant MELA-AU 6 136878987 136878987 single base substitution G A intron_variant MELA-AU 6 136879000 136879000 single base substitution G A intron_variant MELA-AU 6 136879037 136879037 single base substitution C T intron_variant MELA-AU 6 136879041 136879041 single base substitution C T intron_variant MELA-AU 6 136880413 136880413 single base substitution C T intron_variant MELA-AU 6 136881664 136881664 single base substitution T A intron_variant MELA-AU 6 136881819 136881819 single base substitution T A intron_variant MELA-AU 6 136882088 136882088 single base substitution T A intron_variant MELA-AU 6 136882140 136882140 single base substitution C A intron_variant MELA-AU 6 136882148 136882148 single base substitution G A intron_variant MELA-AU 6 136882274 136882275 multiple base substitution (>=2bp and <=200bp) TG GA intron_variant MELA-AU 6 136882296 136882296 single base substitution C T intron_variant MELA-AU 6 136883193 136883193 single base substitution C T intron_variant MELA-AU 6 136883426 136883426 single base substitution G A intron_variant MELA-AU 6 136883783 136883783 single base substitution G A intron_variant MELA-AU 6 136884318 136884318 single base substitution G A intron_variant MELA-AU 6 136884486 136884486 single base substitution A G intron_variant MELA-AU 6 136884566 136884566 single base substitution C T intron_variant MELA-AU 6 136884651 136884651 single base substitution C T intron_variant MELA-AU 6 136884948 136884948 single base substitution C T intron_variant MELA-AU 6 136885349 136885349 single base substitution G A intron_variant MELA-AU 6 136885353 136885353 single base substitution G A intron_variant MELA-AU 6 136885369 136885369 single base substitution C G intron_variant MELA-AU 6 136885410 136885410 single base substitution C T intron_variant MELA-AU 6 136885476 136885476 single base substitution G A intron_variant MELA-AU 6 136885600 136885600 single base substitution G A intron_variant MELA-AU 6 136885612 136885612 single base substitution C T intron_variant MELA-AU 6 136885629 136885629 single base substitution A G intron_variant MELA-AU 6 136886254 136886254 single base substitution T C intron_variant MELA-AU 6 136886490 136886490 single base substitution G A intron_variant MELA-AU 6 136886520 136886520 single base substitution G A intron_variant MELA-AU 6 136886529 136886529 single base substitution G A intron_variant MELA-AU 6 136886663 136886664 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 6 136886701 136886701 single base substitution C T intron_variant MELA-AU 6 136886796 136886796 single base substitution T C intron_variant MELA-AU 6 136886931 136886931 single base substitution C T intron_variant MELA-AU 6 136886952 136886952 single base substitution C T intron_variant MELA-AU 6 136886954 136886954 single base substitution C T intron_variant MELA-AU 6 136887010 136887010 single base substitution A G intron_variant MELA-AU 6 136887359 136887359 single base substitution G A intron_variant MELA-AU 6 136887367 136887367 single base substitution C T intron_variant MELA-AU 6 136887675 136887675 single base substitution G A intron_variant MELA-AU 6 136887676 136887676 single base substitution G A intron_variant MELA-AU 6 136887689 136887689 single base substitution C T intron_variant MELA-AU 6 136887726 136887726 single base substitution C T intron_variant MELA-AU 6 136887881 136887881 single base substitution T A intron_variant MELA-AU 6 136887883 136887883 single base substitution C T intron_variant MELA-AU 6 136887949 136887949 single base substitution A T intron_variant MELA-AU 6 136888073 136888073 deletion of <=200bp A - intron_variant MELA-AU 6 136888097 136888097 single base substitution C T intron_variant MELA-AU 6 136888522 136888522 single base substitution G A intron_variant MELA-AU 6 136888542 136888542 single base substitution G A intron_variant MELA-AU 6 136888783 136888783 single base substitution T A missense_variant K1249N 3747A>T MELA-AU 6 136888783 136888783 single base substitution T A missense_variant K496N 1488A>T MELA-AU 6 136888786 136888786 single base substitution C T missense_variant M1248I 3744G>A MELA-AU 6 136888786 136888786 single base substitution C T missense_variant M495I 1485G>A MELA-AU 6 136888793 136888793 single base substitution C T missense_variant G1246E 3737G>A MELA-AU 6 136888793 136888793 single base substitution C T missense_variant G493E 1478G>A MELA-AU 6 136889063 136889063 single base substitution T C intron_variant MELA-AU 6 136889512 136889512 single base substitution G A intron_variant MELA-AU 6 136889714 136889714 single base substitution A G intron_variant MELA-AU 6 136890042 136890042 single base substitution A T intron_variant MELA-AU 6 136890084 136890084 single base substitution C T intron_variant MELA-AU 6 136890160 136890160 single base substitution C T intron_variant MELA-AU 6 136890633 136890633 single base substitution G A intron_variant MELA-AU 6 136891060 136891060 single base substitution C T intron_variant MELA-AU 6 136891274 136891274 single base substitution G A intron_variant MELA-AU 6 136891427 136891427 single base substitution C T intron_variant MELA-AU 6 136891483 136891483 single base substitution G A intron_variant MELA-AU 6 136891689 136891689 single base substitution C T intron_variant MELA-AU 6 136891700 136891700 single base substitution C T intron_variant MELA-AU 6 136891764 136891764 single base substitution C T intron_variant MELA-AU 6 136891945 136891945 single base substitution C T intron_variant MELA-AU 6 136891958 136891958 single base substitution T G intron_variant MELA-AU 6 136892294 136892294 single base substitution C T intron_variant MELA-AU 6 136892356 136892356 single base substitution T G intron_variant MELA-AU 6 136892531 136892531 single base substitution C G intron_variant MELA-AU 6 136892533 136892533 single base substitution C T intron_variant MELA-AU 6 136892780 136892780 single base substitution C T intron_variant MELA-AU 6 136892882 136892882 single base substitution T A intron_variant MELA-AU 6 136892907 136892907 single base substitution A C intron_variant MELA-AU 6 136892940 136892940 single base substitution C T intron_variant MELA-AU 6 136892980 136892980 single base substitution C T intron_variant MELA-AU 6 136893460 136893460 single base substitution G A intron_variant MELA-AU 6 136893620 136893620 single base substitution C T intron_variant MELA-AU 6 136893747 136893747 single base substitution G A intron_variant MELA-AU 6 136893849 136893849 single base substitution A T intron_variant MELA-AU 6 136893883 136893883 deletion of <=200bp G - intron_variant MELA-AU 6 136893915 136893915 single base substitution C T intron_variant MELA-AU 6 136894011 136894012 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 6 136894101 136894101 single base substitution G A intron_variant MELA-AU 6 136894310 136894310 single base substitution G A intron_variant MELA-AU 6 136894357 136894357 single base substitution G A intron_variant MELA-AU 6 136894675 136894676 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 136894774 136894774 single base substitution G A intron_variant MELA-AU 6 136894820 136894820 single base substitution G A intron_variant MELA-AU 6 136895027 136895027 single base substitution C T intron_variant MELA-AU 6 136895461 136895461 single base substitution C T intron_variant MELA-AU 6 136896015 136896015 single base substitution G A intron_variant MELA-AU 6 136896115 136896115 single base substitution C T intron_variant MELA-AU 6 136896124 136896124 single base substitution G A intron_variant MELA-AU 6 136896205 136896205 single base substitution C T intron_variant MELA-AU 6 136896423 136896423 single base substitution C T intron_variant MELA-AU 6 136896516 136896516 single base substitution G A downstream_gene_variant MELA-AU 6 136896516 136896516 single base substitution G A intron_variant MELA-AU 6 136896630 136896630 single base substitution G A downstream_gene_variant MELA-AU 6 136896630 136896630 single base substitution G A intron_variant MELA-AU 6 136896682 136896683 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 6 136896682 136896683 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 136896831 136896831 single base substitution C T downstream_gene_variant MELA-AU 6 136896831 136896831 single base substitution C T intron_variant MELA-AU 6 136896958 136896958 single base substitution G A downstream_gene_variant MELA-AU 6 136896958 136896958 single base substitution G A intron_variant MELA-AU 6 136896990 136896990 single base substitution C T downstream_gene_variant MELA-AU 6 136896990 136896990 single base substitution C T intron_variant MELA-AU 6 136897017 136897017 single base substitution C T downstream_gene_variant MELA-AU 6 136897017 136897017 single base substitution C T intron_variant MELA-AU 6 136897042 136897042 single base substitution G A downstream_gene_variant MELA-AU 6 136897042 136897042 single base substitution G A intron_variant MELA-AU 6 136897072 136897072 single base substitution C T downstream_gene_variant MELA-AU 6 136897072 136897072 single base substitution C T intron_variant MELA-AU 6 136897278 136897278 single base substitution G A downstream_gene_variant MELA-AU 6 136897278 136897278 single base substitution G A intron_variant MELA-AU 6 136897419 136897419 single base substitution C T downstream_gene_variant MELA-AU 6 136897419 136897419 single base substitution C T intron_variant MELA-AU 6 136897714 136897714 single base substitution G A downstream_gene_variant MELA-AU 6 136897714 136897714 single base substitution G A intron_variant MELA-AU 6 136897764 136897764 single base substitution C T downstream_gene_variant MELA-AU 6 136897764 136897764 single base substitution C T intron_variant MELA-AU 6 136897801 136897801 single base substitution G A downstream_gene_variant MELA-AU 6 136897801 136897801 single base substitution G A intron_variant MELA-AU 6 136897812 136897812 single base substitution C T downstream_gene_variant MELA-AU 6 136897812 136897812 single base substitution C T intron_variant MELA-AU 6 136898639 136898639 single base substitution G A downstream_gene_variant MELA-AU 6 136898639 136898639 single base substitution G A intron_variant MELA-AU 6 136898792 136898792 single base substitution G A downstream_gene_variant MELA-AU 6 136898792 136898792 single base substitution G A intron_variant MELA-AU 6 136899074 136899074 single base substitution G A downstream_gene_variant MELA-AU 6 136899074 136899074 single base substitution G A intron_variant MELA-AU 6 136899436 136899436 single base substitution C T downstream_gene_variant MELA-AU 6 136899436 136899436 single base substitution C T intron_variant MELA-AU 6 136900033 136900033 single base substitution G A downstream_gene_variant MELA-AU 6 136900033 136900033 single base substitution G A intron_variant MELA-AU 6 136900084 136900084 single base substitution G A downstream_gene_variant MELA-AU 6 136900084 136900084 single base substitution G A intron_variant MELA-AU 6 136900297 136900297 single base substitution C T downstream_gene_variant MELA-AU 6 136900297 136900297 single base substitution C T intron_variant MELA-AU 6 136900399 136900399 single base substitution G A downstream_gene_variant MELA-AU 6 136900399 136900399 single base substitution G A intron_variant MELA-AU 6 136900738 136900738 single base substitution C T downstream_gene_variant MELA-AU 6 136900738 136900738 single base substitution C T intron_variant MELA-AU 6 136901653 136901653 single base substitution C T intron_variant MELA-AU 6 136901799 136901800 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 136902429 136902429 single base substitution G A intron_variant MELA-AU 6 136902549 136902549 single base substitution A G intron_variant MELA-AU 6 136902667 136902667 single base substitution A T intron_variant MELA-AU 6 136902918 136902918 single base substitution C T intron_variant MELA-AU 6 136903175 136903175 single base substitution C T intron_variant MELA-AU 6 136903764 136903764 single base substitution G A intron_variant MELA-AU 6 136904335 136904335 single base substitution G A intron_variant MELA-AU 6 136905058 136905058 single base substitution C T intron_variant MELA-AU 6 136905185 136905185 single base substitution C T intron_variant MELA-AU 6 136905671 136905671 single base substitution A G intron_variant MELA-AU 6 136905671 136905671 single base substitution A G upstream_gene_variant MELA-AU 6 136905992 136905992 single base substitution C T intron_variant MELA-AU 6 136905992 136905992 single base substitution C T upstream_gene_variant MELA-AU 6 136907051 136907051 single base substitution T C intron_variant MELA-AU 6 136907051 136907051 single base substitution T C upstream_gene_variant MELA-AU 6 136908924 136908925 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 136908924 136908925 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 136909826 136909826 single base substitution C T intron_variant MELA-AU 6 136909826 136909826 single base substitution C T upstream_gene_variant MELA-AU 6 136909836 136909836 single base substitution C T intron_variant MELA-AU 6 136909836 136909836 single base substitution C T upstream_gene_variant MELA-AU 6 136909923 136909923 single base substitution C T intron_variant MELA-AU 6 136909923 136909923 single base substitution C T upstream_gene_variant MELA-AU 6 136909946 136909946 single base substitution C G intron_variant MELA-AU 6 136909946 136909946 single base substitution C G upstream_gene_variant MELA-AU 6 136910412 136910412 single base substitution G A intron_variant MELA-AU 6 136910412 136910412 single base substitution G A upstream_gene_variant MELA-AU 6 136910702 136910702 single base substitution C T intron_variant MELA-AU 6 136910801 136910801 single base substitution C T intron_variant MELA-AU 6 136911225 136911225 single base substitution A C intron_variant MELA-AU 6 136911358 136911358 single base substitution G A intron_variant MELA-AU 6 136911742 136911742 single base substitution G A intron_variant MELA-AU 6 136911802 136911803 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 136911912 136911912 single base substitution T C intron_variant MELA-AU 6 136912393 136912393 single base substitution A T intron_variant MELA-AU 6 136912535 136912535 single base substitution C T intron_variant MELA-AU 6 136912709 136912709 single base substitution G A intron_variant MELA-AU 6 136913418 136913418 single base substitution C T missense_variant G1040R 3118G>A MELA-AU 6 136913418 136913418 single base substitution C T missense_variant G287R 859G>A MELA-AU 6 136913442 136913442 single base substitution G A missense_variant P1032S 3094C>T MELA-AU 6 136913442 136913442 single base substitution G A missense_variant P279S 835C>T MELA-AU 6 136914005 136914005 single base substitution G A intron_variant MELA-AU 6 136914425 136914425 single base substitution G A intron_variant MELA-AU 6 136914601 136914601 single base substitution C T intron_variant MELA-AU 6 136915742 136915742 single base substitution G A intron_variant MELA-AU 6 136915833 136915833 single base substitution C T intron_variant MELA-AU 6 136916685 136916685 single base substitution G C intron_variant MELA-AU 6 136916699 136916699 single base substitution G A intron_variant MELA-AU 6 136916856 136916856 single base substitution G A intron_variant MELA-AU 6 136917338 136917338 single base substitution G A intron_variant MELA-AU 6 136917572 136917572 single base substitution G A intron_variant MELA-AU 6 136917629 136917629 single base substitution G A intron_variant MELA-AU 6 136918123 136918123 single base substitution G A intron_variant MELA-AU 6 136918198 136918198 single base substitution G A intron_variant MELA-AU 6 136918337 136918337 single base substitution C T intron_variant MELA-AU 6 136918754 136918754 single base substitution C T intron_variant MELA-AU 6 136918802 136918802 single base substitution C T intron_variant MELA-AU 6 136918866 136918866 single base substitution C T intron_variant MELA-AU 6 136919450 136919450 single base substitution G A intron_variant MELA-AU 6 136919600 136919600 single base substitution A G intron_variant MELA-AU 6 136919702 136919702 single base substitution C T intron_variant MELA-AU 6 136919765 136919765 single base substitution G A intron_variant MELA-AU 6 136919776 136919776 single base substitution C T intron_variant MELA-AU 6 136920351 136920351 single base substitution C T intron_variant MELA-AU 6 136920888 136920888 single base substitution C T intron_variant MELA-AU 6 136920912 136920912 single base substitution G A intron_variant MELA-AU 6 136921370 136921370 single base substitution C T intron_variant MELA-AU 6 136921419 136921420 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 136921472 136921473 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 136921517 136921517 single base substitution G A intron_variant MELA-AU 6 136921866 136921866 single base substitution A G intron_variant MELA-AU 6 136922051 136922051 single base substitution C T intron_variant MELA-AU 6 136922160 136922160 single base substitution C T missense_variant E207K 619G>A MELA-AU 6 136922160 136922160 single base substitution C T missense_variant E960K 2878G>A MELA-AU 6 136922169 136922169 single base substitution C T missense_variant G204R 610G>A MELA-AU 6 136922169 136922169 single base substitution C T missense_variant G957R 2869G>A MELA-AU 6 136922284 136922284 single base substitution T G intron_variant MELA-AU 6 136922461 136922461 single base substitution C T intron_variant MELA-AU 6 136922734 136922734 single base substitution T A intron_variant MELA-AU 6 136923254 136923254 single base substitution G A intron_variant MELA-AU 6 136923291 136923291 single base substitution C T intron_variant MELA-AU 6 136923536 136923536 single base substitution G A intron_variant MELA-AU 6 136924635 136924635 single base substitution C T intron_variant MELA-AU 6 136924914 136924914 single base substitution G A intron_variant MELA-AU 6 136925131 136925131 single base substitution G A intron_variant MELA-AU 6 136925538 136925538 single base substitution G A intron_variant MELA-AU 6 136925893 136925893 single base substitution G A intron_variant MELA-AU 6 136925915 136925915 single base substitution T A intron_variant MELA-AU 6 136925991 136925991 single base substitution G A intron_variant MELA-AU 6 136926171 136926171 single base substitution C T intron_variant MELA-AU 6 136926264 136926264 single base substitution A G intron_variant MELA-AU 6 136926330 136926330 single base substitution G A intron_variant MELA-AU 6 136926632 136926632 single base substitution C T intron_variant MELA-AU 6 136926789 136926789 single base substitution A C intron_variant MELA-AU 6 136927008 136927008 single base substitution C T intron_variant MELA-AU 6 136927476 136927476 single base substitution G A intron_variant MELA-AU 6 136927719 136927719 single base substitution C T intron_variant MELA-AU 6 136927997 136927997 single base substitution C T intron_variant MELA-AU 6 136928001 136928001 single base substitution G A intron_variant MELA-AU 6 136928131 136928131 single base substitution A C intron_variant MELA-AU 6 136928813 136928813 single base substitution G A intron_variant MELA-AU 6 136928922 136928922 single base substitution C T intron_variant MELA-AU 6 136928982 136928982 single base substitution G T intron_variant MELA-AU 6 136928988 136928988 single base substitution G A intron_variant MELA-AU 6 136929008 136929008 single base substitution C T intron_variant MELA-AU 6 136929719 136929719 single base substitution G A intron_variant MELA-AU 6 136929816 136929816 single base substitution T C intron_variant MELA-AU 6 136930044 136930044 single base substitution A G intron_variant MELA-AU 6 136930172 136930172 single base substitution G A intron_variant MELA-AU 6 136931246 136931246 single base substitution C T intron_variant MELA-AU 6 136931576 136931576 single base substitution C T intron_variant MELA-AU 6 136931781 136931781 single base substitution C T intron_variant MELA-AU 6 136931994 136931994 single base substitution C T intron_variant MELA-AU 6 136932968 136932968 single base substitution C T intron_variant MELA-AU 6 136933113 136933113 single base substitution C T intron_variant MELA-AU 6 136933571 136933572 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 6 136933872 136933872 single base substitution G C intron_variant MELA-AU 6 136934117 136934117 single base substitution G A intron_variant MELA-AU 6 136934594 136934594 single base substitution A C intron_variant MELA-AU 6 136934741 136934741 single base substitution G A intron_variant MELA-AU 6 136934945 136934945 single base substitution T C intron_variant MELA-AU 6 136935023 136935023 single base substitution C T intron_variant MELA-AU 6 136935113 136935113 single base substitution G A intron_variant MELA-AU 6 136935192 136935192 single base substitution C T intron_variant MELA-AU 6 136935254 136935254 single base substitution G A intron_variant MELA-AU 6 136935451 136935451 single base substitution T G intron_variant MELA-AU 6 136935600 136935600 single base substitution G A intron_variant MELA-AU 6 136935610 136935610 single base substitution G A intron_variant MELA-AU 6 136936292 136936292 single base substitution G A intron_variant MELA-AU 6 136936416 136936416 single base substitution C T intron_variant MELA-AU 6 136936419 136936419 single base substitution A G intron_variant MELA-AU 6 136936504 136936504 single base substitution G A intron_variant MELA-AU 6 136936631 136936631 single base substitution C T intron_variant MELA-AU 6 136937385 136937385 single base substitution T C intron_variant MELA-AU 6 136937506 136937506 single base substitution G A intron_variant MELA-AU 6 136937633 136937633 single base substitution G A intron_variant MELA-AU 6 136938245 136938245 single base substitution G A intron_variant MELA-AU 6 136938263 136938263 single base substitution T C intron_variant MELA-AU 6 136938642 136938642 single base substitution G A intron_variant MELA-AU 6 136938745 136938745 single base substitution C T intron_variant MELA-AU 6 136938750 136938750 single base substitution A G intron_variant MELA-AU 6 136939287 136939287 single base substitution G A intron_variant MELA-AU 6 136939382 136939382 single base substitution C T intron_variant MELA-AU 6 136939465 136939465 single base substitution G A intron_variant MELA-AU 6 136939537 136939537 single base substitution C T intron_variant MELA-AU 6 136939649 136939649 single base substitution T C intron_variant MELA-AU 6 136940085 136940085 single base substitution C T intron_variant MELA-AU 6 136940099 136940099 single base substitution C T intron_variant MELA-AU 6 136940179 136940179 single base substitution C T intron_variant MELA-AU 6 136940274 136940274 single base substitution G T intron_variant MELA-AU 6 136940341 136940341 single base substitution A T intron_variant MELA-AU 6 136940447 136940447 single base substitution G A intron_variant MELA-AU 6 136940687 136940687 single base substitution C T intron_variant MELA-AU 6 136940817 136940817 single base substitution C T intron_variant MELA-AU 6 136940818 136940818 single base substitution G A intron_variant MELA-AU 6 136941087 136941087 single base substitution T G intron_variant MELA-AU 6 136941200 136941200 single base substitution G A intron_variant MELA-AU 6 136941419 136941419 single base substitution G A intron_variant MELA-AU 6 136941461 136941461 single base substitution C T intron_variant MELA-AU 6 136941724 136941724 single base substitution G A intron_variant MELA-AU 6 136941924 136941924 single base substitution G A intron_variant MELA-AU 6 136942163 136942163 single base substitution A C intron_variant MELA-AU 6 136942164 136942164 single base substitution T G intron_variant MELA-AU 6 136942740 136942740 single base substitution T G intron_variant MELA-AU 6 136943324 136943324 single base substitution C T intron_variant MELA-AU 6 136943359 136943359 single base substitution C T intron_variant MELA-AU 6 136943529 136943529 single base substitution C T intron_variant MELA-AU 6 136943687 136943687 single base substitution G A intron_variant MELA-AU 6 136944128 136944128 single base substitution G A intron_variant MELA-AU 6 136944612 136944612 single base substitution G A intron_variant MELA-AU 6 136944684 136944684 single base substitution G A intron_variant MELA-AU 6 136944721 136944721 single base substitution T C intron_variant MELA-AU 6 136944801 136944801 single base substitution C T intron_variant MELA-AU 6 136945420 136945420 single base substitution G A intron_variant MELA-AU 6 136945451 136945451 single base substitution G A intron_variant MELA-AU 6 136945952 136945952 single base substitution A T intron_variant MELA-AU 6 136946070 136946070 single base substitution G A intron_variant MELA-AU 6 136946263 136946263 single base substitution G A intron_variant MELA-AU 6 136947084 136947084 single base substitution G A intron_variant MELA-AU 6 136947148 136947148 single base substitution G C intron_variant MELA-AU 6 136947199 136947199 single base substitution G A intron_variant MELA-AU 6 136947371 136947371 single base substitution G A intron_variant MELA-AU 6 136948204 136948204 single base substitution G A intron_variant MELA-AU 6 136948796 136948796 single base substitution T C intron_variant MELA-AU 6 136948970 136948970 single base substitution G A intron_variant MELA-AU 6 136949047 136949047 single base substitution G A intron_variant MELA-AU 6 136949742 136949742 single base substitution C T intron_variant MELA-AU 6 136949883 136949883 single base substitution G A intron_variant MELA-AU 6 136949911 136949911 single base substitution G A intron_variant MELA-AU 6 136949972 136949972 single base substitution G A intron_variant MELA-AU 6 136950152 136950152 single base substitution G A intron_variant MELA-AU 6 136950185 136950185 single base substitution G A intron_variant MELA-AU 6 136950198 136950198 single base substitution C T intron_variant MELA-AU 6 136950616 136950616 single base substitution G A intron_variant MELA-AU 6 136950727 136950727 single base substitution G A intron_variant MELA-AU 6 136951171 136951171 single base substitution G A intron_variant MELA-AU 6 136951297 136951297 single base substitution C T intron_variant MELA-AU 6 136951795 136951795 single base substitution A G intron_variant MELA-AU 6 136951822 136951822 single base substitution C T intron_variant MELA-AU 6 136951837 136951837 single base substitution C T intron_variant MELA-AU 6 136952760 136952760 single base substitution G A intron_variant MELA-AU 6 136952883 136952883 single base substitution C G intron_variant MELA-AU 6 136952900 136952900 single base substitution C T intron_variant MELA-AU 6 136952911 136952911 single base substitution C T intron_variant MELA-AU 6 136953381 136953381 single base substitution G A intron_variant MELA-AU 6 136953486 136953486 single base substitution C T intron_variant MELA-AU 6 136953831 136953831 single base substitution A C intron_variant MELA-AU 6 136954226 136954226 single base substitution G A intron_variant MELA-AU 6 136954563 136954563 single base substitution G A intron_variant MELA-AU 6 136955008 136955008 single base substitution G A intron_variant MELA-AU 6 136955430 136955430 single base substitution G A intron_variant MELA-AU 6 136955519 136955519 single base substitution C T intron_variant MELA-AU 6 136955520 136955520 single base substitution C T intron_variant MELA-AU 6 136955690 136955690 single base substitution G A intron_variant MELA-AU 6 136955809 136955809 single base substitution C T intron_variant MELA-AU 6 136956148 136956148 single base substitution G A intron_variant MELA-AU 6 136956342 136956342 single base substitution A T intron_variant MELA-AU 6 136956353 136956353 single base substitution T A intron_variant MELA-AU 6 136956700 136956700 single base substitution A G intron_variant MELA-AU 6 136956945 136956945 single base substitution G A intron_variant MELA-AU 6 136956990 136956990 single base substitution C T intron_variant MELA-AU 6 136957046 136957046 single base substitution A T intron_variant MELA-AU 6 136957225 136957225 single base substitution C T intron_variant MELA-AU 6 136957341 136957341 single base substitution G A intron_variant MELA-AU 6 136957494 136957494 single base substitution G A intron_variant MELA-AU 6 136957614 136957614 single base substitution A T intron_variant MELA-AU 6 136957651 136957651 single base substitution G A intron_variant MELA-AU 6 136957902 136957902 single base substitution G A intron_variant MELA-AU 6 136958046 136958046 single base substitution C G intron_variant MELA-AU 6 136958348 136958348 single base substitution G A intron_variant MELA-AU 6 136958492 136958492 single base substitution C T 5_prime_UTR_variant MELA-AU 6 136958492 136958492 single base substitution C T missense_variant E663K 1987G>A MELA-AU 6 136958506 136958506 single base substitution C T 5_prime_UTR_variant MELA-AU 6 136958506 136958506 single base substitution C T missense_variant G658E 1973G>A MELA-AU 6 136958776 136958776 single base substitution C T intron_variant MELA-AU 6 136959384 136959384 single base substitution G A intron_variant MELA-AU 6 136959510 136959510 single base substitution C T intron_variant MELA-AU 6 136959612 136959612 single base substitution C T intron_variant MELA-AU 6 136959757 136959757 single base substitution G A intron_variant MELA-AU 6 136959780 136959780 single base substitution G A intron_variant MELA-AU 6 136960152 136960152 single base substitution G A intron_variant MELA-AU 6 136960534 136960534 single base substitution G A intron_variant MELA-AU 6 136960716 136960716 single base substitution G A 5_prime_UTR_variant MELA-AU 6 136960716 136960716 single base substitution G A synonymous_variant F633F 1899C>T MELA-AU 6 136961311 136961311 single base substitution C T intron_variant MELA-AU 6 136961508 136961508 single base substitution G T intron_variant MELA-AU 6 136961783 136961783 single base substitution C T intron_variant MELA-AU 6 136961866 136961866 single base substitution G A intron_variant MELA-AU 6 136961873 136961873 single base substitution A C intron_variant MELA-AU 6 136961961 136961961 single base substitution C T intron_variant MELA-AU 6 136963020 136963020 single base substitution G A intron_variant MELA-AU 6 136963077 136963077 single base substitution G A intron_variant MELA-AU 6 136963696 136963696 single base substitution A C 5_prime_UTR_variant MELA-AU 6 136963696 136963696 single base substitution A C missense_variant H600Q 1800T>G MELA-AU 6 136963741 136963741 single base substitution C T intron_variant MELA-AU 6 136964447 136964447 single base substitution A G intron_variant MELA-AU 6 136964594 136964594 single base substitution G A intron_variant MELA-AU 6 136964952 136964952 single base substitution G A intron_variant MELA-AU 6 136964953 136964953 single base substitution G A intron_variant MELA-AU 6 136965280 136965280 single base substitution G A intron_variant MELA-AU 6 136965494 136965494 single base substitution C T intron_variant MELA-AU 6 136965543 136965543 single base substitution A G intron_variant MELA-AU 6 136965775 136965775 single base substitution C T intron_variant MELA-AU 6 136966147 136966147 single base substitution G A intron_variant MELA-AU 6 136966242 136966242 single base substitution A T intron_variant MELA-AU 6 136966341 136966341 single base substitution G A intron_variant MELA-AU 6 136966708 136966708 single base substitution C T intron_variant MELA-AU 6 136967388 136967388 single base substitution G A intron_variant MELA-AU 6 136967581 136967581 single base substitution G A intron_variant MELA-AU 6 136967747 136967747 single base substitution G A intron_variant MELA-AU 6 136968066 136968066 single base substitution C T intron_variant MELA-AU 6 136968118 136968118 single base substitution C T intron_variant MELA-AU 6 136968203 136968203 single base substitution C T intron_variant MELA-AU 6 136968332 136968332 single base substitution C T intron_variant MELA-AU 6 136968777 136968777 single base substitution C T intron_variant MELA-AU 6 136968964 136968964 single base substitution G A intron_variant MELA-AU 6 136969214 136969214 single base substitution C T intron_variant MELA-AU 6 136969623 136969623 single base substitution G A intron_variant MELA-AU 6 136969645 136969645 single base substitution G A intron_variant MELA-AU 6 136969681 136969681 single base substitution C T intron_variant MELA-AU 6 136969928 136969929 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 136969955 136969955 single base substitution C T intron_variant MELA-AU 6 136970217 136970217 single base substitution C T intron_variant MELA-AU 6 136970695 136970695 single base substitution C T intron_variant MELA-AU 6 136970760 136970760 single base substitution C T intron_variant MELA-AU 6 136970766 136970766 single base substitution T A intron_variant MELA-AU 6 136970767 136970767 single base substitution G A intron_variant MELA-AU 6 136970801 136970801 single base substitution G A intron_variant MELA-AU 6 136971711 136971711 single base substitution G A intron_variant MELA-AU 6 136971849 136971849 single base substitution A G intron_variant MELA-AU 6 136971908 136971908 single base substitution C T intron_variant MELA-AU 6 136972564 136972564 single base substitution C A intron_variant MELA-AU 6 136972692 136972692 single base substitution C T intron_variant MELA-AU 6 136973065 136973065 single base substitution C T intron_variant MELA-AU 6 136973079 136973079 single base substitution C T intron_variant MELA-AU 6 136973102 136973102 single base substitution G C intron_variant MELA-AU 6 136973267 136973267 single base substitution G A intron_variant MELA-AU 6 136973297 136973297 single base substitution G A intron_variant MELA-AU 6 136973670 136973670 single base substitution C T intron_variant MELA-AU 6 136973695 136973695 single base substitution G A intron_variant MELA-AU 6 136973946 136973946 single base substitution C T intron_variant MELA-AU 6 136974130 136974130 single base substitution C T intron_variant MELA-AU 6 136974337 136974337 single base substitution G A intron_variant MELA-AU 6 136974352 136974352 single base substitution G A intron_variant MELA-AU 6 136974660 136974660 single base substitution C T intron_variant MELA-AU 6 136974833 136974833 single base substitution A T intron_variant MELA-AU 6 136974973 136974973 single base substitution G A intron_variant MELA-AU 6 136974987 136974987 single base substitution G A intron_variant MELA-AU 6 136975469 136975469 single base substitution G A intron_variant MELA-AU 6 136975602 136975602 single base substitution G A intron_variant MELA-AU 6 136975719 136975719 single base substitution G A intron_variant MELA-AU 6 136975852 136975852 single base substitution G A intron_variant MELA-AU 6 136975990 136975990 single base substitution C T intron_variant MELA-AU 6 136976583 136976583 single base substitution G A intron_variant MELA-AU 6 136976774 136976774 single base substitution G A intron_variant MELA-AU 6 136977150 136977150 single base substitution G A intron_variant MELA-AU 6 136977435 136977435 single base substitution G A intron_variant MELA-AU 6 136977663 136977663 single base substitution C T intron_variant MELA-AU 6 136977663 136977663 single base substitution C T upstream_gene_variant MELA-AU 6 136977730 136977730 single base substitution C T intron_variant MELA-AU 6 136977730 136977730 single base substitution C T upstream_gene_variant MELA-AU 6 136977757 136977757 single base substitution C T intron_variant MELA-AU 6 136977757 136977757 single base substitution C T upstream_gene_variant MELA-AU 6 136977949 136977949 single base substitution G A intron_variant MELA-AU 6 136977949 136977949 single base substitution G A upstream_gene_variant MELA-AU 6 136978135 136978135 single base substitution G A intron_variant MELA-AU 6 136978135 136978135 single base substitution G A upstream_gene_variant MELA-AU 6 136978392 136978392 single base substitution G A intron_variant MELA-AU 6 136978392 136978392 single base substitution G A upstream_gene_variant MELA-AU 6 136979083 136979083 single base substitution C T intron_variant MELA-AU 6 136979083 136979083 single base substitution C T upstream_gene_variant MELA-AU 6 136979233 136979233 single base substitution C T intron_variant MELA-AU 6 136979233 136979233 single base substitution C T upstream_gene_variant MELA-AU 6 136979419 136979419 insertion of <=200bp - T intron_variant MELA-AU 6 136979419 136979419 insertion of <=200bp - T upstream_gene_variant MELA-AU 6 136979431 136979431 single base substitution T A intron_variant MELA-AU 6 136979431 136979431 single base substitution T A upstream_gene_variant MELA-AU 6 136979575 136979575 single base substitution C T intron_variant MELA-AU 6 136979575 136979575 single base substitution C T upstream_gene_variant MELA-AU 6 136979903 136979903 single base substitution C T intron_variant MELA-AU 6 136979903 136979903 single base substitution C T upstream_gene_variant MELA-AU 6 136980351 136980351 single base substitution T A splice_region_variant MELA-AU 6 136980351 136980351 single base substitution T A upstream_gene_variant MELA-AU 6 136980353 136980353 single base substitution T A splice_region_variant MELA-AU 6 136980353 136980353 single base substitution T A upstream_gene_variant MELA-AU 6 136981087 136981087 single base substitution G A intron_variant MELA-AU 6 136981087 136981087 single base substitution G A upstream_gene_variant MELA-AU 6 136981701 136981701 single base substitution C T intron_variant MELA-AU 6 136981701 136981701 single base substitution C T upstream_gene_variant MELA-AU 6 136981739 136981739 single base substitution T A intron_variant MELA-AU 6 136981739 136981739 single base substitution T A upstream_gene_variant MELA-AU 6 136982364 136982364 single base substitution C T intron_variant MELA-AU 6 136982364 136982364 single base substitution C T upstream_gene_variant MELA-AU 6 136982465 136982465 single base substitution T C intron_variant MELA-AU 6 136982465 136982465 single base substitution T C upstream_gene_variant MELA-AU 6 136982510 136982510 single base substitution C T intron_variant MELA-AU 6 136982510 136982510 single base substitution C T upstream_gene_variant MELA-AU 6 136983629 136983629 single base substitution C T intron_variant MELA-AU 6 136983798 136983798 single base substitution C T intron_variant MELA-AU 6 136983803 136983803 single base substitution G A intron_variant MELA-AU 6 136984101 136984101 single base substitution G A intron_variant MELA-AU 6 136984355 136984355 single base substitution G A intron_variant MELA-AU 6 136984366 136984366 single base substitution C T intron_variant MELA-AU 6 136984935 136984935 single base substitution G A intron_variant MELA-AU 6 136984995 136984995 single base substitution C T intron_variant MELA-AU 6 136985018 136985018 single base substitution G A intron_variant MELA-AU 6 136985043 136985043 single base substitution C T intron_variant MELA-AU 6 136985369 136985369 single base substitution G A intron_variant MELA-AU 6 136985389 136985389 single base substitution A G intron_variant MELA-AU 6 136985434 136985434 single base substitution G A intron_variant MELA-AU 6 136985996 136985996 single base substitution G A intron_variant MELA-AU 6 136986006 136986006 single base substitution T C intron_variant MELA-AU 6 136986023 136986023 single base substitution C T intron_variant MELA-AU 6 136986143 136986143 single base substitution G A intron_variant MELA-AU 6 136986259 136986259 single base substitution G A intron_variant MELA-AU 6 136986710 136986710 single base substitution C T intron_variant MELA-AU 6 136986779 136986779 single base substitution C T intron_variant MELA-AU 6 136986980 136986980 single base substitution G A intron_variant MELA-AU 6 136987020 136987020 single base substitution T C intron_variant MELA-AU 6 136987067 136987067 single base substitution C T intron_variant MELA-AU 6 136987243 136987243 single base substitution G A intron_variant MELA-AU 6 136987464 136987464 single base substitution G A intron_variant MELA-AU 6 136987646 136987646 single base substitution G A intron_variant MELA-AU 6 136987719 136987719 single base substitution C T intron_variant MELA-AU 6 136987796 136987796 single base substitution G A intron_variant MELA-AU 6 136987800 136987800 single base substitution A T intron_variant MELA-AU 6 136988145 136988145 single base substitution C T intron_variant MELA-AU 6 136988395 136988395 single base substitution G A intron_variant MELA-AU 6 136988432 136988432 single base substitution A T intron_variant MELA-AU 6 136988565 136988565 single base substitution G A intron_variant MELA-AU 6 136988639 136988639 single base substitution C T intron_variant MELA-AU 6 136988677 136988677 single base substitution C T intron_variant MELA-AU 6 136989194 136989194 single base substitution G A intron_variant MELA-AU 6 136989385 136989385 single base substitution G A intron_variant MELA-AU 6 136989602 136989602 single base substitution C T intron_variant MELA-AU 6 136989603 136989603 single base substitution C T intron_variant MELA-AU 6 136989646 136989646 single base substitution C T intron_variant MELA-AU 6 136989992 136989992 single base substitution G A intron_variant MELA-AU 6 136990013 136990013 single base substitution C T intron_variant MELA-AU 6 136990176 136990176 single base substitution G A intron_variant MELA-AU 6 136990310 136990310 single base substitution G A intron_variant MELA-AU 6 136990441 136990441 single base substitution G A missense_variant S449F 1346C>T MELA-AU 6 136991192 136991192 single base substitution G A intron_variant MELA-AU 6 136991534 136991534 single base substitution G A intron_variant MELA-AU 6 136991573 136991573 single base substitution G A intron_variant MELA-AU 6 136991973 136991973 single base substitution G A intron_variant MELA-AU 6 136992297 136992297 single base substitution G A intron_variant MELA-AU 6 136992338 136992338 single base substitution G A intron_variant MELA-AU 6 136992363 136992363 single base substitution G A intron_variant MELA-AU 6 136992815 136992815 single base substitution G A intron_variant MELA-AU 6 136992913 136992913 single base substitution G A intron_variant MELA-AU 6 136992984 136992984 single base substitution G A intron_variant MELA-AU 6 136993187 136993187 single base substitution G A intron_variant MELA-AU 6 136993377 136993377 single base substitution G A intron_variant MELA-AU 6 136993429 136993429 single base substitution G A intron_variant MELA-AU 6 136993612 136993613 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 136993613 136993613 single base substitution G A intron_variant MELA-AU 6 136993618 136993618 single base substitution C T intron_variant MELA-AU 6 136993840 136993840 single base substitution G A intron_variant MELA-AU 6 136993888 136993888 single base substitution G A intron_variant MELA-AU 6 136993917 136993917 single base substitution C T intron_variant MELA-AU 6 136994055 136994055 single base substitution G A intron_variant MELA-AU 6 136994082 136994082 single base substitution C T intron_variant MELA-AU 6 136994181 136994181 single base substitution G A intron_variant MELA-AU 6 136994453 136994453 single base substitution C T intron_variant MELA-AU 6 136994494 136994494 single base substitution G A intron_variant MELA-AU 6 136994782 136994782 single base substitution G A intron_variant MELA-AU 6 136994856 136994856 single base substitution A T intron_variant MELA-AU 6 136994988 136994988 single base substitution G A intron_variant MELA-AU 6 136995022 136995022 single base substitution G A intron_variant MELA-AU 6 136995189 136995189 single base substitution A G intron_variant MELA-AU 6 136995198 136995198 single base substitution G A intron_variant MELA-AU 6 136995493 136995493 single base substitution C T intron_variant MELA-AU 6 136995593 136995593 single base substitution G A intron_variant MELA-AU 6 136995852 136995852 single base substitution A T intron_variant MELA-AU 6 136995999 136995999 single base substitution G A intron_variant MELA-AU 6 136996573 136996573 single base substitution G A intron_variant MELA-AU 6 136996923 136996923 single base substitution G A intron_variant MELA-AU 6 136997014 136997014 single base substitution G A intron_variant MELA-AU 6 136997042 136997042 single base substitution C T intron_variant MELA-AU 6 136997146 136997146 single base substitution G A intron_variant MELA-AU 6 136997185 136997185 single base substitution G A intron_variant MELA-AU 6 136997347 136997347 single base substitution C T intron_variant MELA-AU 6 136997722 136997722 single base substitution C T intron_variant MELA-AU 6 136997763 136997763 single base substitution A G intron_variant MELA-AU 6 136997972 136997972 single base substitution C T intron_variant MELA-AU 6 136998185 136998185 single base substitution C T intron_variant MELA-AU 6 136998374 136998374 single base substitution C T intron_variant MELA-AU 6 136998756 136998756 single base substitution G A intron_variant MELA-AU 6 136998883 136998883 single base substitution G A intron_variant MELA-AU 6 136998928 136998928 single base substitution T C intron_variant MELA-AU 6 136999119 136999119 single base substitution G A intron_variant MELA-AU 6 136999171 136999171 single base substitution G A intron_variant MELA-AU 6 136999267 136999267 single base substitution C T intron_variant MELA-AU 6 136999473 136999473 single base substitution C T intron_variant MELA-AU 6 136999781 136999781 single base substitution T G intron_variant MELA-AU 6 136999818 136999818 single base substitution T A intron_variant MELA-AU 6 136999905 136999905 single base substitution C T intron_variant MELA-AU 6 136999999 136999999 single base substitution G A intron_variant MELA-AU 6 137000055 137000055 single base substitution G A intron_variant MELA-AU 6 137000124 137000124 single base substitution G A intron_variant MELA-AU 6 137000204 137000204 single base substitution C T intron_variant MELA-AU 6 137000591 137000592 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 137000878 137000878 single base substitution G A intron_variant MELA-AU 6 137000885 137000885 single base substitution C T intron_variant MELA-AU 6 137000914 137000914 single base substitution C T intron_variant MELA-AU 6 137001373 137001373 single base substitution G A intron_variant MELA-AU 6 137001377 137001377 single base substitution A C intron_variant MELA-AU 6 137001480 137001480 single base substitution T A intron_variant MELA-AU 6 137001699 137001699 single base substitution G A intron_variant MELA-AU 6 137001826 137001826 single base substitution C T intron_variant MELA-AU 6 137001890 137001890 single base substitution T C intron_variant MELA-AU 6 137002334 137002334 single base substitution C T intron_variant MELA-AU 6 137002541 137002541 single base substitution G A intron_variant MELA-AU 6 137002575 137002575 single base substitution C T intron_variant MELA-AU 6 137002788 137002788 single base substitution G A intron_variant MELA-AU 6 137002803 137002803 single base substitution C T intron_variant MELA-AU 6 137002837 137002837 single base substitution G A intron_variant MELA-AU 6 137002880 137002880 single base substitution C T intron_variant MELA-AU 6 137002951 137002951 single base substitution G A intron_variant MELA-AU 6 137002965 137002965 single base substitution G A intron_variant MELA-AU 6 137003118 137003118 single base substitution C T intron_variant MELA-AU 6 137003179 137003179 single base substitution G A intron_variant MELA-AU 6 137003253 137003253 single base substitution G A intron_variant MELA-AU 6 137003400 137003400 single base substitution C A intron_variant MELA-AU 6 137003519 137003519 single base substitution G A intron_variant MELA-AU 6 137003558 137003558 single base substitution T C intron_variant MELA-AU 6 137003597 137003597 single base substitution C T intron_variant MELA-AU 6 137003988 137003988 single base substitution G A intron_variant MELA-AU 6 137004290 137004290 single base substitution T A intron_variant MELA-AU 6 137004354 137004354 single base substitution C T intron_variant MELA-AU 6 137004475 137004475 single base substitution G A intron_variant MELA-AU 6 137004949 137004949 single base substitution G A intron_variant MELA-AU 6 137005004 137005004 single base substitution G A intron_variant MELA-AU 6 137005031 137005031 single base substitution G A intron_variant MELA-AU 6 137005037 137005037 single base substitution C T intron_variant MELA-AU 6 137005191 137005191 single base substitution G A intron_variant MELA-AU 6 137005218 137005218 single base substitution A T intron_variant MELA-AU 6 137005221 137005221 single base substitution G A intron_variant MELA-AU 6 137005371 137005371 single base substitution A T intron_variant MELA-AU 6 137005556 137005556 single base substitution G A intron_variant MELA-AU 6 137005834 137005834 single base substitution C T intron_variant MELA-AU 6 137005846 137005847 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 137006082 137006082 single base substitution C T intron_variant MELA-AU 6 137006091 137006091 single base substitution C T intron_variant MELA-AU 6 137006214 137006214 single base substitution G A intron_variant MELA-AU 6 137006539 137006539 single base substitution G A intron_variant MELA-AU 6 137006620 137006620 single base substitution G A intron_variant MELA-AU 6 137006712 137006712 single base substitution C T intron_variant MELA-AU 6 137006730 137006730 single base substitution C T intron_variant MELA-AU 6 137006785 137006785 single base substitution G A intron_variant MELA-AU 6 137007182 137007182 single base substitution G A intron_variant MELA-AU 6 137007268 137007268 single base substitution G A intron_variant MELA-AU 6 137007483 137007483 single base substitution C T intron_variant MELA-AU 6 137007589 137007589 single base substitution G A intron_variant MELA-AU 6 137007782 137007782 single base substitution G A intron_variant MELA-AU 6 137007926 137007926 single base substitution G A intron_variant MELA-AU 6 137007969 137007969 single base substitution G A intron_variant MELA-AU 6 137008181 137008181 single base substitution C T intron_variant MELA-AU 6 137008267 137008267 single base substitution G A intron_variant MELA-AU 6 137008387 137008387 single base substitution C T intron_variant MELA-AU 6 137008536 137008536 single base substitution G A intron_variant MELA-AU 6 137008719 137008719 insertion of <=200bp - T intron_variant MELA-AU 6 137008897 137008897 single base substitution A T intron_variant MELA-AU 6 137009011 137009011 single base substitution G A intron_variant MELA-AU 6 137009012 137009012 single base substitution G A intron_variant MELA-AU 6 137009187 137009187 single base substitution G A intron_variant MELA-AU 6 137009264 137009264 single base substitution G A intron_variant MELA-AU 6 137009360 137009360 single base substitution G A intron_variant MELA-AU 6 137009369 137009369 single base substitution G A intron_variant MELA-AU 6 137009424 137009424 single base substitution G A intron_variant MELA-AU 6 137009540 137009540 single base substitution C T intron_variant MELA-AU 6 137009719 137009719 single base substitution C T intron_variant MELA-AU 6 137009817 137009817 single base substitution G A intron_variant MELA-AU 6 137010001 137010001 single base substitution G A intron_variant MELA-AU 6 137010562 137010562 single base substitution A G intron_variant MELA-AU 6 137010734 137010734 single base substitution A T intron_variant MELA-AU 6 137010764 137010764 single base substitution T A intron_variant MELA-AU 6 137011399 137011399 single base substitution G A intron_variant MELA-AU 6 137011553 137011553 single base substitution C T intron_variant MELA-AU 6 137011796 137011796 single base substitution T A intron_variant MELA-AU 6 137011917 137011917 single base substitution C A intron_variant MELA-AU 6 137011928 137011928 single base substitution C T intron_variant MELA-AU 6 137011961 137011961 single base substitution C G intron_variant MELA-AU 6 137012062 137012062 single base substitution C T intron_variant MELA-AU 6 137012265 137012265 single base substitution G A intron_variant MELA-AU 6 137012302 137012302 single base substitution C T intron_variant MELA-AU 6 137012576 137012576 single base substitution C T intron_variant MELA-AU 6 137012657 137012657 single base substitution G A intron_variant MELA-AU 6 137012884 137012884 single base substitution C T intron_variant MELA-AU 6 137013160 137013160 single base substitution C T intron_variant MELA-AU 6 137013179 137013179 single base substitution A G intron_variant MELA-AU 6 137013217 137013217 single base substitution C T intron_variant MELA-AU 6 137013416 137013416 single base substitution C T intron_variant MELA-AU 6 137013495 137013495 single base substitution C T intron_variant MELA-AU 6 137013559 137013559 single base substitution C T intron_variant MELA-AU 6 137013567 137013567 single base substitution G A intron_variant MELA-AU 6 137013596 137013596 single base substitution G A intron_variant MELA-AU 6 137013611 137013611 single base substitution G A intron_variant MELA-AU 6 137014064 137014064 single base substitution A C intron_variant MELA-AU 6 137014077 137014077 single base substitution G A intron_variant MELA-AU 6 137014284 137014284 single base substitution C T intron_variant MELA-AU 6 137014333 137014333 single base substitution C T intron_variant MELA-AU 6 137014653 137014653 single base substitution C T intron_variant MELA-AU 6 137014808 137014808 single base substitution G A intron_variant MELA-AU 6 137015008 137015008 single base substitution C T intron_variant MELA-AU 6 137015040 137015040 single base substitution C T intron_variant MELA-AU 6 137015081 137015081 single base substitution A C intron_variant MELA-AU 6 137015094 137015094 single base substitution C T intron_variant MELA-AU 6 137015191 137015191 single base substitution A T intron_variant MELA-AU 6 137015309 137015309 single base substitution C T missense_variant D408N 1222G>A MELA-AU 6 137015547 137015547 single base substitution G A intron_variant MELA-AU 6 137015685 137015685 single base substitution G A intron_variant MELA-AU 6 137015687 137015687 single base substitution G A intron_variant MELA-AU 6 137015762 137015762 single base substitution G A intron_variant MELA-AU 6 137015952 137015952 single base substitution G A intron_variant MELA-AU 6 137016158 137016158 single base substitution C T intron_variant MELA-AU 6 137016367 137016367 single base substitution C T intron_variant MELA-AU 6 137016925 137016925 single base substitution G A intron_variant MELA-AU 6 137017072 137017072 single base substitution G A intron_variant MELA-AU 6 137017196 137017196 single base substitution C T splice_acceptor_variant MELA-AU 6 137017237 137017237 single base substitution G A intron_variant MELA-AU 6 137018308 137018308 single base substitution C T intron_variant MELA-AU 6 137018413 137018413 single base substitution C T missense_variant E307K 919G>A MELA-AU 6 137018478 137018478 deletion of <=200bp T - frameshift_variant N285 MELA-AU 6 137018743 137018743 single base substitution G A intron_variant MELA-AU 6 137018818 137018818 single base substitution C T intron_variant MELA-AU 6 137019018 137019018 single base substitution G A intron_variant MELA-AU 6 137019079 137019079 single base substitution C T intron_variant MELA-AU 6 137019261 137019261 single base substitution C T intron_variant MELA-AU 6 137019345 137019345 single base substitution C T intron_variant MELA-AU 6 137019667 137019667 single base substitution G A missense_variant R256C 766C>T MELA-AU 6 137019686 137019686 single base substitution G A synonymous_variant I249I 747C>T MELA-AU 6 137019713 137019713 single base substitution C T synonymous_variant P240P 720G>A MELA-AU 6 137019875 137019875 single base substitution G A intron_variant MELA-AU 6 137019878 137019878 single base substitution G A intron_variant MELA-AU 6 137019938 137019938 single base substitution C T intron_variant MELA-AU 6 137019973 137019973 single base substitution C T intron_variant MELA-AU 6 137020271 137020271 single base substitution G A intron_variant MELA-AU 6 137020320 137020321 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 6 137020414 137020414 single base substitution C T intron_variant MELA-AU 6 137020416 137020416 single base substitution C T intron_variant MELA-AU 6 137020444 137020444 single base substitution C T intron_variant MELA-AU 6 137020726 137020726 single base substitution C T intron_variant MELA-AU 6 137020855 137020855 single base substitution G A intron_variant MELA-AU 6 137020874 137020874 single base substitution G A intron_variant MELA-AU 6 137021165 137021165 single base substitution T C intron_variant MELA-AU 6 137021218 137021218 single base substitution G A intron_variant MELA-AU 6 137021264 137021264 single base substitution G A intron_variant MELA-AU 6 137021713 137021713 single base substitution T G intron_variant MELA-AU 6 137021768 137021768 single base substitution G A intron_variant MELA-AU 6 137021786 137021786 single base substitution G A intron_variant MELA-AU 6 137021944 137021944 single base substitution G A intron_variant MELA-AU 6 137021951 137021951 single base substitution C T intron_variant MELA-AU 6 137021965 137021965 single base substitution G A intron_variant MELA-AU 6 137022129 137022129 single base substitution C T intron_variant MELA-AU 6 137022241 137022241 single base substitution C T intron_variant MELA-AU 6 137022483 137022483 single base substitution T C intron_variant MELA-AU 6 137022662 137022662 single base substitution G A intron_variant MELA-AU 6 137022668 137022668 single base substitution G A intron_variant MELA-AU 6 137022766 137022766 single base substitution G A intron_variant MELA-AU 6 137022837 137022837 single base substitution G A intron_variant MELA-AU 6 137023095 137023095 single base substitution G A intron_variant MELA-AU 6 137023514 137023514 single base substitution G A intron_variant MELA-AU 6 137023943 137023943 single base substitution C T intron_variant MELA-AU 6 137024264 137024264 single base substitution G A intron_variant MELA-AU 6 137024325 137024325 single base substitution G A intron_variant MELA-AU 6 137025168 137025168 single base substitution T A intron_variant MELA-AU 6 137025297 137025297 single base substitution G A intron_variant MELA-AU 6 137025455 137025455 single base substitution G A intron_variant MELA-AU 6 137025542 137025542 single base substitution G A intron_variant MELA-AU 6 137025747 137025747 single base substitution G A intron_variant MELA-AU 6 137025787 137025787 single base substitution G A intron_variant MELA-AU 6 137025909 137025909 single base substitution C A intron_variant MELA-AU 6 137026053 137026053 single base substitution C T intron_variant MELA-AU 6 137026382 137026382 single base substitution G T intron_variant MELA-AU 6 137026477 137026477 single base substitution G A intron_variant MELA-AU 6 137026767 137026767 single base substitution G A intron_variant MELA-AU 6 137027034 137027034 single base substitution C T intron_variant MELA-AU 6 137027089 137027089 single base substitution C T intron_variant MELA-AU 6 137027143 137027143 single base substitution C T intron_variant MELA-AU 6 137027194 137027194 single base substitution G A intron_variant MELA-AU 6 137027210 137027210 single base substitution A G intron_variant MELA-AU 6 137027669 137027670 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 137027752 137027752 single base substitution G A intron_variant MELA-AU 6 137027791 137027791 single base substitution G A intron_variant MELA-AU 6 137027945 137027945 single base substitution G A intron_variant MELA-AU 6 137028000 137028000 single base substitution A C intron_variant MELA-AU 6 137028426 137028426 single base substitution G A intron_variant MELA-AU 6 137028430 137028430 single base substitution G A intron_variant MELA-AU 6 137028523 137028523 single base substitution C T intron_variant MELA-AU 6 137028545 137028545 single base substitution G A intron_variant MELA-AU 6 137028574 137028574 single base substitution G A intron_variant MELA-AU 6 137028577 137028578 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 137028578 137028578 single base substitution C T intron_variant MELA-AU 6 137028672 137028672 single base substitution G A intron_variant MELA-AU 6 137028802 137028802 single base substitution A C intron_variant MELA-AU 6 137029056 137029056 single base substitution G A intron_variant MELA-AU 6 137029057 137029057 single base substitution G A intron_variant MELA-AU 6 137029109 137029109 single base substitution C T intron_variant MELA-AU 6 137029223 137029223 single base substitution C T intron_variant MELA-AU 6 137029463 137029463 single base substitution G A intron_variant MELA-AU 6 137029467 137029467 single base substitution C T intron_variant MELA-AU 6 137029527 137029527 single base substitution G A intron_variant MELA-AU 6 137029600 137029600 single base substitution C T intron_variant MELA-AU 6 137029619 137029619 single base substitution C T intron_variant MELA-AU 6 137029713 137029713 single base substitution G A intron_variant MELA-AU 6 137029734 137029734 single base substitution C T intron_variant MELA-AU 6 137029903 137029903 single base substitution G A intron_variant MELA-AU 6 137030032 137030032 single base substitution A G intron_variant MELA-AU 6 137030037 137030037 single base substitution C T intron_variant MELA-AU 6 137030098 137030098 single base substitution C T intron_variant MELA-AU 6 137030161 137030161 single base substitution C T intron_variant MELA-AU 6 137030168 137030168 single base substitution A C intron_variant MELA-AU 6 137030244 137030244 single base substitution T A intron_variant MELA-AU 6 137030259 137030259 single base substitution C T intron_variant MELA-AU 6 137030420 137030420 single base substitution G A intron_variant MELA-AU 6 137030697 137030697 single base substitution G A intron_variant MELA-AU 6 137030787 137030787 single base substitution C T intron_variant MELA-AU 6 137030793 137030793 single base substitution G A intron_variant MELA-AU 6 137030917 137030917 single base substitution C T intron_variant MELA-AU 6 137031002 137031002 single base substitution C T intron_variant MELA-AU 6 137031228 137031228 single base substitution G A intron_variant MELA-AU 6 137031328 137031328 single base substitution C T intron_variant MELA-AU 6 137031339 137031339 single base substitution G A intron_variant MELA-AU 6 137031467 137031467 single base substitution G A intron_variant MELA-AU 6 137031548 137031548 single base substitution C T intron_variant MELA-AU 6 137031583 137031583 single base substitution C T intron_variant MELA-AU 6 137031586 137031586 single base substitution G A intron_variant MELA-AU 6 137031642 137031642 single base substitution C T intron_variant MELA-AU 6 137031743 137031743 single base substitution C T intron_variant MELA-AU 6 137031831 137031831 single base substitution C T intron_variant MELA-AU 6 137031854 137031854 single base substitution G A intron_variant MELA-AU 6 137031878 137031878 single base substitution C T intron_variant MELA-AU 6 137031929 137031929 single base substitution C T intron_variant MELA-AU 6 137032004 137032004 single base substitution C T intron_variant MELA-AU 6 137032256 137032256 single base substitution G A intron_variant MELA-AU 6 137032468 137032468 single base substitution C T intron_variant MELA-AU 6 137032615 137032615 single base substitution A G intron_variant MELA-AU 6 137032656 137032656 single base substitution T C intron_variant MELA-AU 6 137032705 137032705 single base substitution G A intron_variant MELA-AU 6 137032712 137032712 single base substitution G A intron_variant MELA-AU 6 137032842 137032842 single base substitution G A intron_variant MELA-AU 6 137033537 137033537 single base substitution C T intron_variant MELA-AU 6 137033599 137033599 single base substitution G A intron_variant MELA-AU 6 137033769 137033769 single base substitution G A intron_variant MELA-AU 6 137033821 137033821 single base substitution C T intron_variant MELA-AU 6 137033963 137033963 single base substitution G A intron_variant MELA-AU 6 137034067 137034067 single base substitution C T intron_variant MELA-AU 6 137034197 137034197 single base substitution C T intron_variant MELA-AU 6 137034278 137034283 deletion of <=200bp TGAAAA - intron_variant MELA-AU 6 137034755 137034755 single base substitution C T intron_variant MELA-AU 6 137034776 137034777 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 137035308 137035308 single base substitution A G intron_variant MELA-AU 6 137035437 137035437 single base substitution C A intron_variant MELA-AU 6 137035889 137035889 single base substitution T A intron_variant MELA-AU 6 137035953 137035953 single base substitution T A intron_variant MELA-AU 6 137036048 137036048 single base substitution G A intron_variant MELA-AU 6 137036148 137036148 single base substitution C T intron_variant MELA-AU 6 137036346 137036346 single base substitution G A intron_variant MELA-AU 6 137036372 137036372 single base substitution C T intron_variant MELA-AU 6 137036497 137036497 single base substitution A G intron_variant MELA-AU 6 137036531 137036531 single base substitution A G intron_variant MELA-AU 6 137036632 137036632 single base substitution C T intron_variant MELA-AU 6 137036990 137036990 single base substitution G A intron_variant MELA-AU 6 137036996 137036997 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 137037275 137037275 single base substitution A T intron_variant MELA-AU 6 137037292 137037292 single base substitution C T intron_variant MELA-AU 6 137037294 137037294 single base substitution C T intron_variant MELA-AU 6 137037446 137037446 single base substitution C T intron_variant MELA-AU 6 137037550 137037550 single base substitution T C intron_variant MELA-AU 6 137037813 137037813 single base substitution G A intron_variant MELA-AU 6 137037829 137037829 single base substitution C T intron_variant MELA-AU 6 137037949 137037949 single base substitution G A intron_variant MELA-AU 6 137038494 137038494 single base substitution A T intron_variant MELA-AU 6 137039022 137039022 single base substitution T A intron_variant MELA-AU 6 137039024 137039024 single base substitution A G intron_variant MELA-AU 6 137039386 137039386 single base substitution C T intron_variant MELA-AU 6 137039457 137039457 single base substitution C T intron_variant MELA-AU 6 137039477 137039477 single base substitution G A intron_variant MELA-AU 6 137040016 137040016 single base substitution T C intron_variant MELA-AU 6 137040031 137040031 single base substitution G A intron_variant MELA-AU 6 137040086 137040086 single base substitution G A intron_variant MELA-AU 6 137040093 137040093 single base substitution C T intron_variant MELA-AU 6 137040479 137040479 single base substitution G A intron_variant MELA-AU 6 137040562 137040562 single base substitution G A intron_variant MELA-AU 6 137040775 137040775 single base substitution A C intron_variant MELA-AU 6 137040934 137040934 single base substitution G A intron_variant MELA-AU 6 137041088 137041088 single base substitution G A intron_variant MELA-AU 6 137041234 137041234 single base substitution G A intron_variant MELA-AU 6 137041439 137041439 single base substitution A G intron_variant MELA-AU 6 137041462 137041462 single base substitution G A intron_variant MELA-AU 6 137041689 137041689 single base substitution G A missense_variant P163S 487C>T MELA-AU 6 137042021 137042021 single base substitution G A intron_variant MELA-AU 6 137042354 137042354 single base substitution A G intron_variant MELA-AU 6 137042413 137042413 single base substitution G A intron_variant MELA-AU 6 137042654 137042654 single base substitution G A intron_variant MELA-AU 6 137042750 137042750 single base substitution G A intron_variant MELA-AU 6 137042812 137042812 single base substitution G A intron_variant MELA-AU 6 137042948 137042948 single base substitution G A intron_variant MELA-AU 6 137043046 137043046 single base substitution G A intron_variant MELA-AU 6 137044229 137044229 single base substitution G A intron_variant MELA-AU 6 137044468 137044468 single base substitution A T intron_variant MELA-AU 6 137044476 137044476 single base substitution A G intron_variant MELA-AU 6 137044929 137044929 single base substitution G A intron_variant MELA-AU 6 137045244 137045244 single base substitution A G intron_variant MELA-AU 6 137045367 137045367 single base substitution G A intron_variant MELA-AU 6 137045436 137045436 single base substitution G A intron_variant MELA-AU 6 137045497 137045497 single base substitution C A intron_variant MELA-AU 6 137045510 137045510 single base substitution C T intron_variant MELA-AU 6 137045531 137045531 single base substitution G A intron_variant MELA-AU 6 137045631 137045632 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 6 137045680 137045680 single base substitution C T intron_variant MELA-AU 6 137045847 137045847 single base substitution G A intron_variant MELA-AU 6 137046219 137046219 single base substitution G A intron_variant MELA-AU 6 137046513 137046513 single base substitution C T intron_variant MELA-AU 6 137046580 137046580 single base substitution C T intron_variant MELA-AU 6 137046724 137046724 single base substitution A T intron_variant MELA-AU 6 137048028 137048028 single base substitution T A intron_variant MELA-AU 6 137048628 137048628 single base substitution C T intron_variant MELA-AU 6 137048752 137048752 single base substitution C T intron_variant MELA-AU 6 137048894 137048894 single base substitution C T intron_variant MELA-AU 6 137049126 137049126 single base substitution A G intron_variant MELA-AU 6 137049200 137049201 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 6 137049201 137049201 single base substitution C T intron_variant MELA-AU 6 137049261 137049261 single base substitution T G intron_variant MELA-AU 6 137049327 137049327 single base substitution G A intron_variant MELA-AU 6 137049372 137049372 single base substitution C A intron_variant MELA-AU 6 137049419 137049419 single base substitution T G intron_variant MELA-AU 6 137049446 137049446 single base substitution G A intron_variant MELA-AU 6 137049991 137049991 single base substitution G A intron_variant MELA-AU 6 137050089 137050089 single base substitution G A intron_variant MELA-AU 6 137050314 137050314 single base substitution G A intron_variant MELA-AU 6 137050357 137050357 single base substitution G A intron_variant MELA-AU 6 137050671 137050671 single base substitution G A intron_variant MELA-AU 6 137050839 137050839 single base substitution A C intron_variant MELA-AU 6 137050864 137050864 single base substitution C T intron_variant MELA-AU 6 137051363 137051363 single base substitution C T intron_variant MELA-AU 6 137051469 137051469 single base substitution C T intron_variant MELA-AU 6 137051742 137051743 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 137051971 137051971 single base substitution A C intron_variant MELA-AU 6 137052096 137052096 single base substitution A T intron_variant MELA-AU 6 137052363 137052363 single base substitution G A intron_variant MELA-AU 6 137052490 137052490 single base substitution C T intron_variant MELA-AU 6 137052494 137052494 single base substitution G A intron_variant MELA-AU 6 137052854 137052854 single base substitution G A intron_variant MELA-AU 6 137052966 137052966 single base substitution C T intron_variant MELA-AU 6 137053096 137053096 single base substitution G A intron_variant MELA-AU 6 137053215 137053215 single base substitution C T intron_variant MELA-AU 6 137053246 137053246 single base substitution G A intron_variant MELA-AU 6 137053603 137053603 single base substitution G A intron_variant MELA-AU 6 137053641 137053641 single base substitution G T intron_variant MELA-AU 6 137053718 137053718 single base substitution G A intron_variant MELA-AU 6 137053977 137053977 single base substitution G A intron_variant MELA-AU 6 137054067 137054067 single base substitution C T intron_variant MELA-AU 6 137054589 137054589 insertion of <=200bp - T intron_variant MELA-AU 6 137054607 137054607 single base substitution C T intron_variant MELA-AU 6 137054677 137054677 single base substitution A G intron_variant MELA-AU 6 137054713 137054713 single base substitution G A intron_variant MELA-AU 6 137055200 137055200 single base substitution A T intron_variant MELA-AU 6 137055424 137055424 single base substitution G A intron_variant MELA-AU 6 137055530 137055531 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 137056085 137056085 single base substitution C T intron_variant MELA-AU 6 137056400 137056400 single base substitution G A intron_variant MELA-AU 6 137056549 137056549 single base substitution C T intron_variant MELA-AU 6 137056657 137056658 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 6 137056999 137056999 single base substitution C T intron_variant MELA-AU 6 137057166 137057166 single base substitution C T intron_variant MELA-AU 6 137057373 137057373 single base substitution G A intron_variant MELA-AU 6 137057466 137057466 single base substitution A T intron_variant MELA-AU 6 137057808 137057808 single base substitution G A intron_variant MELA-AU 6 137058065 137058065 single base substitution C T intron_variant MELA-AU 6 137058196 137058196 single base substitution A T intron_variant MELA-AU 6 137058216 137058216 single base substitution A T intron_variant MELA-AU 6 137058450 137058450 single base substitution G A intron_variant MELA-AU 6 137058457 137058457 single base substitution C T intron_variant MELA-AU 6 137058980 137058980 single base substitution C T intron_variant MELA-AU 6 137059204 137059204 single base substitution G A intron_variant MELA-AU 6 137059419 137059419 single base substitution C T intron_variant MELA-AU 6 137059935 137059935 single base substitution G A intron_variant MELA-AU 6 137060047 137060047 single base substitution G A intron_variant MELA-AU 6 137060048 137060048 single base substitution G A intron_variant MELA-AU 6 137060154 137060154 single base substitution G A intron_variant MELA-AU 6 137060400 137060400 single base substitution C T intron_variant MELA-AU 6 137060806 137060806 single base substitution A G intron_variant MELA-AU 6 137060843 137060843 single base substitution G A intron_variant MELA-AU 6 137060912 137060912 single base substitution C T intron_variant MELA-AU 6 137060961 137060961 single base substitution G A intron_variant MELA-AU 6 137060995 137060995 single base substitution C T intron_variant MELA-AU 6 137061054 137061054 single base substitution C T intron_variant MELA-AU 6 137061342 137061342 single base substitution C T intron_variant MELA-AU 6 137061421 137061421 single base substitution C T intron_variant MELA-AU 6 137061763 137061763 single base substitution G A intron_variant MELA-AU 6 137061807 137061807 single base substitution C T intron_variant MELA-AU 6 137062043 137062043 single base substitution G A intron_variant MELA-AU 6 137062079 137062079 single base substitution A G intron_variant MELA-AU 6 137062144 137062144 single base substitution C T intron_variant MELA-AU 6 137062282 137062282 single base substitution G A intron_variant MELA-AU 6 137062410 137062410 single base substitution C T intron_variant MELA-AU 6 137062425 137062425 single base substitution C T intron_variant MELA-AU 6 137062692 137062692 single base substitution A T intron_variant MELA-AU 6 137062793 137062793 single base substitution G A intron_variant MELA-AU 6 137063439 137063439 single base substitution G A intron_variant MELA-AU 6 137063719 137063719 single base substitution C T intron_variant MELA-AU 6 137063956 137063956 single base substitution G A intron_variant MELA-AU 6 137064007 137064007 single base substitution G T intron_variant MELA-AU 6 137064107 137064107 single base substitution G A intron_variant MELA-AU 6 137064707 137064707 single base substitution C T intron_variant MELA-AU 6 137065099 137065099 single base substitution G A intron_variant MELA-AU 6 137066287 137066287 single base substitution T C intron_variant MELA-AU 6 137066461 137066461 single base substitution G A intron_variant MELA-AU 6 137066581 137066581 single base substitution G A intron_variant MELA-AU 6 137067116 137067116 single base substitution G A intron_variant MELA-AU 6 137067285 137067285 single base substitution C T intron_variant MELA-AU 6 137067374 137067374 single base substitution G A intron_variant MELA-AU 6 137068510 137068510 single base substitution C T intron_variant MELA-AU 6 137068593 137068593 single base substitution G A intron_variant MELA-AU 6 137068630 137068630 single base substitution G A intron_variant MELA-AU 6 137068865 137068865 single base substitution G A intron_variant MELA-AU 6 137069026 137069026 single base substitution G A intron_variant MELA-AU 6 137069307 137069307 single base substitution C G intron_variant MELA-AU 6 137069402 137069402 single base substitution G A intron_variant MELA-AU 6 137069585 137069585 single base substitution C T intron_variant MELA-AU 6 137069635 137069635 single base substitution G A intron_variant MELA-AU 6 137069860 137069860 single base substitution G A intron_variant MELA-AU 6 137070047 137070047 single base substitution C T intron_variant MELA-AU 6 137070224 137070224 single base substitution C T intron_variant MELA-AU 6 137070447 137070447 single base substitution G A intron_variant MELA-AU 6 137070570 137070570 single base substitution G A intron_variant MELA-AU 6 137070725 137070725 single base substitution G A intron_variant MELA-AU 6 137070757 137070757 single base substitution C T intron_variant MELA-AU 6 137071314 137071314 single base substitution C T intron_variant MELA-AU 6 137071415 137071415 single base substitution C T intron_variant MELA-AU 6 137071486 137071486 single base substitution G A intron_variant MELA-AU 6 137071834 137071834 single base substitution C T intron_variant MELA-AU 6 137071865 137071865 single base substitution G A intron_variant MELA-AU 6 137072510 137072510 single base substitution G A intron_variant MELA-AU 6 137072544 137072544 single base substitution T C intron_variant MELA-AU 6 137073009 137073009 single base substitution C T intron_variant MELA-AU 6 137073381 137073381 single base substitution G A intron_variant MELA-AU 6 137073383 137073383 single base substitution G A intron_variant MELA-AU 6 137073495 137073495 single base substitution G A intron_variant MELA-AU 6 137073822 137073822 single base substitution T A intron_variant MELA-AU 6 137073926 137073926 single base substitution G A intron_variant MELA-AU 6 137074157 137074157 single base substitution T C intron_variant MELA-AU 6 137074169 137074169 single base substitution C T intron_variant MELA-AU 6 137074180 137074180 single base substitution C T intron_variant MELA-AU 6 137074356 137074356 single base substitution G C intron_variant MELA-AU 6 137075387 137075387 single base substitution G A intron_variant MELA-AU 6 137075432 137075432 single base substitution C T intron_variant MELA-AU 6 137075542 137075542 single base substitution C T intron_variant MELA-AU 6 137075705 137075705 single base substitution G A intron_variant MELA-AU 6 137075720 137075720 single base substitution C T intron_variant MELA-AU 6 137076041 137076041 single base substitution G A intron_variant MELA-AU 6 137076074 137076075 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 137076264 137076264 single base substitution G A intron_variant MELA-AU 6 137076278 137076278 single base substitution G A intron_variant MELA-AU 6 137076522 137076522 single base substitution C T intron_variant MELA-AU 6 137076528 137076528 single base substitution G A intron_variant MELA-AU 6 137076621 137076621 single base substitution G A intron_variant MELA-AU 6 137076978 137076978 single base substitution A G intron_variant MELA-AU 6 137077248 137077248 single base substitution G A intron_variant MELA-AU 6 137077635 137077635 single base substitution G A intron_variant MELA-AU 6 137077673 137077673 single base substitution G A intron_variant MELA-AU 6 137078094 137078094 single base substitution G A intron_variant MELA-AU 6 137078201 137078201 single base substitution C T intron_variant MELA-AU 6 137078251 137078251 single base substitution G A intron_variant MELA-AU 6 137078594 137078594 single base substitution G A intron_variant MELA-AU 6 137078875 137078875 single base substitution C T intron_variant MELA-AU 6 137079629 137079629 single base substitution C T intron_variant MELA-AU 6 137080195 137080195 single base substitution C T intron_variant MELA-AU 6 137080372 137080372 single base substitution C T intron_variant MELA-AU 6 137080799 137080799 single base substitution G A intron_variant MELA-AU 6 137080849 137080849 single base substitution G A intron_variant MELA-AU 6 137080949 137080949 single base substitution G A intron_variant MELA-AU 6 137081421 137081421 single base substitution C T intron_variant MELA-AU 6 137081761 137081761 single base substitution G A intron_variant MELA-AU 6 137082525 137082525 single base substitution C T intron_variant MELA-AU 6 137082682 137082682 single base substitution A G intron_variant MELA-AU 6 137083141 137083141 single base substitution C T intron_variant MELA-AU 6 137083190 137083190 single base substitution G A intron_variant MELA-AU 6 137084245 137084245 single base substitution C T intron_variant MELA-AU 6 137084490 137084490 single base substitution G A intron_variant MELA-AU 6 137084984 137084984 single base substitution C T intron_variant MELA-AU 6 137085121 137085121 deletion of <=200bp C - intron_variant MELA-AU 6 137085454 137085454 single base substitution C T intron_variant MELA-AU 6 137085455 137085455 single base substitution G A intron_variant MELA-AU 6 137085605 137085605 single base substitution G A intron_variant MELA-AU 6 137086145 137086145 single base substitution C T intron_variant MELA-AU 6 137086205 137086205 single base substitution G A intron_variant MELA-AU 6 137086516 137086516 single base substitution C T intron_variant MELA-AU 6 137086657 137086657 single base substitution T A intron_variant MELA-AU 6 137087114 137087114 single base substitution C T intron_variant MELA-AU 6 137087254 137087254 single base substitution C T intron_variant MELA-AU 6 137087428 137087428 single base substitution A C intron_variant MELA-AU 6 137087716 137087716 single base substitution G A intron_variant MELA-AU 6 137087989 137087989 single base substitution G A intron_variant MELA-AU 6 137088060 137088060 single base substitution G A intron_variant MELA-AU 6 137088294 137088294 single base substitution A T intron_variant MELA-AU 6 137088404 137088404 single base substitution G A intron_variant MELA-AU 6 137088481 137088481 single base substitution G A intron_variant MELA-AU 6 137088532 137088532 single base substitution G A intron_variant MELA-AU 6 137088565 137088565 single base substitution G A intron_variant MELA-AU 6 137088570 137088570 single base substitution G A intron_variant MELA-AU 6 137088770 137088770 single base substitution C T intron_variant MELA-AU 6 137088789 137088789 single base substitution G A intron_variant MELA-AU 6 137088837 137088837 single base substitution C T intron_variant MELA-AU 6 137089005 137089005 single base substitution C T intron_variant MELA-AU 6 137089011 137089011 single base substitution G A intron_variant MELA-AU 6 137089053 137089053 single base substitution G A intron_variant MELA-AU 6 137089060 137089060 single base substitution G A intron_variant MELA-AU 6 137089400 137089400 single base substitution G A intron_variant MELA-AU 6 137089410 137089410 single base substitution C T intron_variant MELA-AU 6 137089944 137089944 single base substitution G T intron_variant MELA-AU 6 137090271 137090271 single base substitution G A intron_variant MELA-AU 6 137090572 137090572 single base substitution T C intron_variant MELA-AU 6 137091201 137091201 single base substitution G A intron_variant MELA-AU 6 137091282 137091282 single base substitution T A intron_variant MELA-AU 6 137091487 137091487 single base substitution C T intron_variant MELA-AU 6 137091600 137091600 single base substitution G C intron_variant MELA-AU 6 137091789 137091789 single base substitution G A intron_variant MELA-AU 6 137091827 137091827 single base substitution C T intron_variant MELA-AU 6 137092068 137092068 single base substitution G A intron_variant MELA-AU 6 137092179 137092179 single base substitution G A intron_variant MELA-AU 6 137092184 137092184 single base substitution C T intron_variant MELA-AU 6 137092190 137092190 single base substitution C T intron_variant MELA-AU 6 137092421 137092421 single base substitution C T intron_variant MELA-AU 6 137092952 137092952 single base substitution G A intron_variant MELA-AU 6 137093052 137093052 single base substitution C T intron_variant MELA-AU 6 137093138 137093138 single base substitution C T intron_variant MELA-AU 6 137093275 137093275 single base substitution G A intron_variant MELA-AU 6 137093540 137093540 single base substitution C T intron_variant MELA-AU 6 137093602 137093602 single base substitution G A intron_variant MELA-AU 6 137093606 137093606 single base substitution G T intron_variant MELA-AU 6 137094065 137094065 deletion of <=200bp C - intron_variant MELA-AU 6 137094068 137094068 single base substitution G A intron_variant MELA-AU 6 137094071 137094071 single base substitution G A intron_variant MELA-AU 6 137094175 137094176 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 137094176 137094176 single base substitution G A intron_variant MELA-AU 6 137094789 137094789 single base substitution C T intron_variant MELA-AU 6 137095245 137095245 single base substitution C A intron_variant MELA-AU 6 137095870 137095870 single base substitution G A intron_variant MELA-AU 6 137095981 137095981 single base substitution G A intron_variant MELA-AU 6 137096102 137096102 single base substitution G A intron_variant MELA-AU 6 137096571 137096571 single base substitution C T intron_variant MELA-AU 6 137096605 137096605 single base substitution C T intron_variant MELA-AU 6 137096749 137096749 single base substitution G A intron_variant MELA-AU 6 137096804 137096804 single base substitution A T intron_variant MELA-AU 6 137096874 137096874 single base substitution G A intron_variant MELA-AU 6 137096990 137096990 single base substitution G A intron_variant MELA-AU 6 137096993 137096993 single base substitution C T intron_variant MELA-AU 6 137097065 137097065 single base substitution G A intron_variant MELA-AU 6 137097147 137097147 single base substitution C T intron_variant MELA-AU 6 137097478 137097478 single base substitution C T intron_variant MELA-AU 6 137097577 137097577 single base substitution C T intron_variant MELA-AU 6 137097653 137097653 single base substitution G A intron_variant MELA-AU 6 137097885 137097885 single base substitution G A intron_variant MELA-AU 6 137098053 137098053 single base substitution G A intron_variant MELA-AU 6 137098093 137098093 single base substitution T A intron_variant MELA-AU 6 137098118 137098118 single base substitution G A intron_variant MELA-AU 6 137098659 137098659 single base substitution C T intron_variant MELA-AU 6 137099149 137099149 single base substitution G A intron_variant MELA-AU 6 137099171 137099171 single base substitution G A intron_variant MELA-AU 6 137099485 137099485 single base substitution C T intron_variant MELA-AU 6 137099887 137099887 single base substitution C T intron_variant MELA-AU 6 137100784 137100784 single base substitution C T intron_variant MELA-AU 6 137101306 137101306 single base substitution C T intron_variant MELA-AU 6 137101577 137101577 single base substitution C T intron_variant MELA-AU 6 137101748 137101748 single base substitution G A intron_variant MELA-AU 6 137101773 137101773 single base substitution G A intron_variant MELA-AU 6 137101970 137101970 single base substitution G A intron_variant MELA-AU 6 137102284 137102284 single base substitution A G intron_variant MELA-AU 6 137102648 137102648 single base substitution C T intron_variant MELA-AU 6 137102836 137102836 single base substitution G A intron_variant MELA-AU 6 137102929 137102929 single base substitution G A intron_variant MELA-AU 6 137103101 137103101 single base substitution C T intron_variant MELA-AU 6 137103650 137103650 single base substitution G A intron_variant MELA-AU 6 137104217 137104217 single base substitution G A intron_variant MELA-AU 6 137104467 137104467 single base substitution G A intron_variant MELA-AU 6 137104751 137104751 single base substitution G A intron_variant MELA-AU 6 137105371 137105371 single base substitution G A intron_variant MELA-AU 6 137105438 137105438 single base substitution A G intron_variant MELA-AU 6 137105746 137105746 single base substitution C T intron_variant MELA-AU 6 137105758 137105758 single base substitution G A intron_variant MELA-AU 6 137105993 137105993 single base substitution A G intron_variant MELA-AU 6 137106155 137106155 single base substitution G A intron_variant MELA-AU 6 137106186 137106186 single base substitution C T intron_variant MELA-AU 6 137106738 137106738 single base substitution G A intron_variant MELA-AU 6 137106752 137106752 single base substitution G A intron_variant MELA-AU 6 137106839 137106839 single base substitution C T intron_variant MELA-AU 6 137107298 137107298 single base substitution G A intron_variant MELA-AU 6 137107411 137107412 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 137107425 137107425 single base substitution G A intron_variant MELA-AU 6 137107553 137107553 single base substitution C T intron_variant MELA-AU 6 137107588 137107588 single base substitution C T intron_variant MELA-AU 6 137107840 137107840 single base substitution C T intron_variant MELA-AU 6 137108122 137108122 single base substitution C T intron_variant MELA-AU 6 137108183 137108183 single base substitution C T intron_variant MELA-AU 6 137108775 137108775 single base substitution C T intron_variant MELA-AU 6 137108929 137108929 single base substitution G A intron_variant MELA-AU 6 137110128 137110128 single base substitution G A intron_variant MELA-AU 6 137110380 137110380 single base substitution C T intron_variant MELA-AU 6 137110572 137110572 single base substitution C T intron_variant MELA-AU 6 137110859 137110859 single base substitution C T intron_variant MELA-AU 6 137110902 137110902 single base substitution C T intron_variant MELA-AU 6 137111159 137111159 single base substitution G A intron_variant MELA-AU 6 137111355 137111355 single base substitution G A intron_variant MELA-AU 6 137112465 137112465 single base substitution G A intron_variant MELA-AU 6 137113896 137113896 single base substitution C T upstream_gene_variant MELA-AU 6 137114611 137114611 single base substitution T C upstream_gene_variant MELA-AU 6 137114880 137114880 single base substitution C T upstream_gene_variant MELA-AU 6 137115553 137115553 single base substitution G A upstream_gene_variant MELA-AU 6 137115774 137115774 single base substitution C G upstream_gene_variant MELA-AU 6 137115809 137115809 single base substitution T A upstream_gene_variant MELA-AU 6 137116095 137116095 single base substitution G A upstream_gene_variant MELA-AU 6 137116590 137116590 single base substitution G A upstream_gene_variant MELA-AU 6 137116785 137116785 single base substitution G T upstream_gene_variant MELA-AU 6 137117119 137117119 single base substitution C T upstream_gene_variant MELA-AU 6 137117176 137117176 single base substitution G A upstream_gene_variant MELA-AU 6 137117184 137117184 single base substitution G A upstream_gene_variant MELA-AU 6 137117250 137117250 single base substitution T C upstream_gene_variant MELA-AU 6 137117372 137117372 single base substitution C T upstream_gene_variant MELA-AU 6 137117548 137117548 single base substitution T A upstream_gene_variant MELA-AU 6 137117632 137117632 single base substitution C T upstream_gene_variant MELA-AU 6 137117715 137117715 single base substitution G A upstream_gene_variant MELA-AU 6 137117907 137117907 single base substitution G A upstream_gene_variant MELA-AU 6 137117988 137117988 single base substitution C T upstream_gene_variant MELA-AU 6 137118040 137118040 single base substitution C T upstream_gene_variant MELA-AU 6 137118474 137118474 single base substitution C T upstream_gene_variant MELA-AU 6 137118507 137118507 single base substitution G A upstream_gene_variant ORCA-IN 6 136882098 136882098 single base substitution A T intron_variant ORCA-IN 6 136918334 136918334 single base substitution C T intron_variant ORCA-IN 6 136918973 136918973 single base substitution C T intron_variant ORCA-IN 6 136925164 136925164 single base substitution T C intron_variant ORCA-IN 6 136926427 136926427 single base substitution G C missense_variant L114V 340C>G ORCA-IN 6 136926427 136926427 single base substitution G C missense_variant L867V 2599C>G ORCA-IN 6 136931729 136931729 single base substitution G T intron_variant ORCA-IN 6 136950920 136950920 single base substitution T C intron_variant ORCA-IN 6 136980581 136980581 single base substitution C T intron_variant ORCA-IN 6 136980581 136980581 single base substitution C T upstream_gene_variant ORCA-IN 6 136982759 136982759 single base substitution G T intron_variant ORCA-IN 6 136986427 136986427 single base substitution G A intron_variant ORCA-IN 6 136993336 136993336 single base substitution G A intron_variant ORCA-IN 6 136999049 136999049 single base substitution G A intron_variant ORCA-IN 6 136999360 136999360 single base substitution G A intron_variant ORCA-IN 6 137079623 137079623 single base substitution G A intron_variant OV-AU 6 136882650 136882650 single base substitution C T intron_variant OV-AU 6 136885313 136885313 single base substitution C A intron_variant OV-AU 6 136885844 136885844 single base substitution T G intron_variant OV-AU 6 136886277 136886277 single base substitution G C intron_variant OV-AU 6 136889431 136889431 single base substitution G T intron_variant OV-AU 6 136902119 136902119 single base substitution T C intron_variant OV-AU 6 136904280 136904280 single base substitution T A intron_variant OV-AU 6 136904418 136904418 single base substitution T C intron_variant OV-AU 6 136908434 136908434 single base substitution G C intron_variant OV-AU 6 136908434 136908434 single base substitution G C upstream_gene_variant OV-AU 6 136911872 136911872 single base substitution G A intron_variant OV-AU 6 136913728 136913728 single base substitution G A missense_variant P215L 644C>T OV-AU 6 136913728 136913728 single base substitution G A missense_variant P968L 2903C>T OV-AU 6 136914830 136914830 single base substitution A C intron_variant OV-AU 6 136915007 136915007 single base substitution C T intron_variant OV-AU 6 136916462 136916462 single base substitution C A intron_variant OV-AU 6 136917479 136917479 single base substitution A G intron_variant OV-AU 6 136921736 136921736 single base substitution G T intron_variant OV-AU 6 136927210 136927210 single base substitution G T intron_variant OV-AU 6 136945851 136945851 single base substitution T A intron_variant OV-AU 6 136952019 136952019 single base substitution G A intron_variant OV-AU 6 136956178 136956178 single base substitution A G intron_variant OV-AU 6 136957043 136957043 single base substitution A C intron_variant OV-AU 6 136957053 136957053 single base substitution A T intron_variant OV-AU 6 136964274 136964274 single base substitution T G intron_variant OV-AU 6 136981726 136981726 single base substitution G T intron_variant OV-AU 6 136981726 136981726 single base substitution G T upstream_gene_variant OV-AU 6 136982421 136982421 single base substitution C A intron_variant OV-AU 6 136982421 136982421 single base substitution C A upstream_gene_variant OV-AU 6 136994025 136994025 single base substitution G T intron_variant OV-AU 6 136994140 136994140 single base substitution A G intron_variant OV-AU 6 137023564 137023564 single base substitution T C intron_variant OV-AU 6 137028381 137028381 single base substitution T C intron_variant OV-AU 6 137029042 137029042 single base substitution G A intron_variant OV-AU 6 137031331 137031331 single base substitution C A intron_variant OV-AU 6 137033660 137033660 single base substitution C T intron_variant OV-AU 6 137042648 137042648 single base substitution A C intron_variant OV-AU 6 137043546 137043546 single base substitution T A intron_variant OV-AU 6 137052612 137052612 single base substitution G T intron_variant OV-AU 6 137053399 137053399 single base substitution C A intron_variant OV-AU 6 137057446 137057446 single base substitution C T intron_variant OV-AU 6 137057717 137057717 single base substitution A T intron_variant OV-AU 6 137058617 137058617 single base substitution C T intron_variant OV-AU 6 137062301 137062301 single base substitution G A intron_variant OV-AU 6 137068763 137068763 single base substitution G C intron_variant OV-AU 6 137076061 137076061 single base substitution G A intron_variant OV-AU 6 137078526 137078526 single base substitution C A intron_variant OV-AU 6 137079304 137079304 single base substitution G A intron_variant OV-AU 6 137087878 137087878 single base substitution T A intron_variant OV-AU 6 137107281 137107281 single base substitution G T intron_variant OV-AU 6 137110640 137110640 single base substitution C T intron_variant OV-US 6 137019626 137019626 single base substitution C G splice_donor_variant PACA-AU 6 136875709 136875709 single base substitution A C downstream_gene_variant PACA-AU 6 136877413 136877413 single base substitution C T downstream_gene_variant PACA-AU 6 136877793 136877793 single base substitution T C downstream_gene_variant PACA-AU 6 136882089 136882098 deletion of <=200bp ATAAAATAAA - intron_variant PACA-AU 6 136884463 136884463 deletion of <=200bp A - intron_variant PACA-AU 6 136889723 136889723 single base substitution G T intron_variant PACA-AU 6 136906612 136906612 insertion of <=200bp - TTTA intron_variant PACA-AU 6 136906612 136906612 insertion of <=200bp - TTTA upstream_gene_variant PACA-AU 6 136909115 136909115 single base substitution G A intron_variant PACA-AU 6 136909115 136909115 single base substitution G A upstream_gene_variant PACA-AU 6 136911499 136911499 single base substitution C T intron_variant PACA-AU 6 136911662 136911662 single base substitution G C intron_variant PACA-AU 6 136912730 136912730 single base substitution C G intron_variant PACA-AU 6 136916840 136916840 single base substitution G T intron_variant PACA-AU 6 136916841 136916841 single base substitution T A intron_variant PACA-AU 6 136918032 136918032 single base substitution C T intron_variant PACA-AU 6 136920162 136920162 single base substitution A G intron_variant PACA-AU 6 136922050 136922050 deletion of <=200bp C - intron_variant PACA-AU 6 136926201 136926201 single base substitution G A intron_variant PACA-AU 6 136927665 136927665 single base substitution A G intron_variant PACA-AU 6 136932738 136932738 single base substitution G A intron_variant PACA-AU 6 136934205 136934205 single base substitution A C intron_variant PACA-AU 6 136946536 136946536 single base substitution G T intron_variant PACA-AU 6 136948668 136948668 single base substitution T A intron_variant PACA-AU 6 136949319 136949319 single base substitution A G intron_variant PACA-AU 6 136951677 136951677 single base substitution T C intron_variant PACA-AU 6 136955218 136955218 single base substitution G A intron_variant PACA-AU 6 136958959 136958959 single base substitution C T intron_variant PACA-AU 6 136969146 136969146 single base substitution C G intron_variant PACA-AU 6 136974036 136974036 single base substitution G A intron_variant PACA-AU 6 136985206 136985206 single base substitution T A intron_variant PACA-AU 6 136986731 136986731 single base substitution G T intron_variant PACA-AU 6 136988382 136988382 single base substitution C A intron_variant PACA-AU 6 136989220 136989220 single base substitution C T intron_variant PACA-AU 6 136995237 136995237 single base substitution C T intron_variant PACA-AU 6 136998752 136998752 single base substitution G A intron_variant PACA-AU 6 137003529 137003529 single base substitution T C intron_variant PACA-AU 6 137016597 137016597 single base substitution A C intron_variant PACA-AU 6 137025348 137025348 single base substitution C T intron_variant PACA-AU 6 137025389 137025389 single base substitution C G intron_variant PACA-AU 6 137025502 137025502 single base substitution C T intron_variant PACA-AU 6 137025775 137025775 single base substitution C T intron_variant PACA-AU 6 137034979 137034979 single base substitution A T intron_variant PACA-AU 6 137034999 137034999 deletion of <=200bp G - intron_variant PACA-AU 6 137045549 137045549 single base substitution C A intron_variant PACA-AU 6 137047429 137047429 single base substitution A T intron_variant PACA-AU 6 137049015 137049015 single base substitution G T intron_variant PACA-AU 6 137051260 137051260 single base substitution G A intron_variant PACA-AU 6 137066133 137066133 single base substitution T G intron_variant PACA-AU 6 137066292 137066292 single base substitution T G intron_variant PACA-AU 6 137066293 137066293 single base substitution T G intron_variant PACA-AU 6 137069539 137069539 single base substitution G A intron_variant PACA-AU 6 137072356 137072356 single base substitution C T intron_variant PACA-AU 6 137075899 137075899 single base substitution G A intron_variant PACA-AU 6 137076831 137076831 single base substitution A G intron_variant PACA-AU 6 137077672 137077672 single base substitution C T intron_variant PACA-AU 6 137080001 137080001 single base substitution G C intron_variant PACA-AU 6 137080741 137080741 single base substitution T A intron_variant PACA-AU 6 137081195 137081195 single base substitution C T intron_variant PACA-AU 6 137085112 137085112 deletion of <=200bp C - intron_variant PACA-AU 6 137089260 137089260 single base substitution T C intron_variant PACA-AU 6 137100421 137100421 single base substitution A G intron_variant PACA-AU 6 137105051 137105051 single base substitution A T intron_variant PACA-AU 6 137106040 137106040 single base substitution C T intron_variant PACA-AU 6 137106834 137106834 insertion of <=200bp - TCT intron_variant PACA-AU 6 137107941 137107941 single base substitution T C intron_variant PACA-AU 6 137107942 137107942 single base substitution T C intron_variant PACA-AU 6 137113085 137113085 single base substitution T G missense_variant T71P 211A>C PACA-CA 6 136874531 136874531 single base substitution C T downstream_gene_variant PACA-CA 6 136875501 136875501 single base substitution G A downstream_gene_variant PACA-CA 6 136878005 136878005 single base substitution A G downstream_gene_variant PACA-CA 6 136879390 136879390 single base substitution G A intron_variant PACA-CA 6 136879724 136879724 single base substitution G C intron_variant PACA-CA 6 136879795 136879795 single base substitution C A intron_variant PACA-CA 6 136881571 136881571 single base substitution C T intron_variant PACA-CA 6 136883805 136883805 deletion of <=200bp T - intron_variant PACA-CA 6 136886306 136886306 single base substitution T A intron_variant PACA-CA 6 136888312 136888312 single base substitution A G intron_variant PACA-CA 6 136896401 136896401 single base substitution T C intron_variant PACA-CA 6 136896990 136896990 single base substitution C A downstream_gene_variant PACA-CA 6 136896990 136896990 single base substitution C A intron_variant PACA-CA 6 136897609 136897609 single base substitution A C downstream_gene_variant PACA-CA 6 136897609 136897609 single base substitution A C intron_variant PACA-CA 6 136898228 136898228 single base substitution C T downstream_gene_variant PACA-CA 6 136898228 136898228 single base substitution C T intron_variant PACA-CA 6 136899146 136899147 deletion of <=200bp TT - downstream_gene_variant PACA-CA 6 136899146 136899147 deletion of <=200bp TT - intron_variant PACA-CA 6 136901449 136901449 single base substitution G T downstream_gene_variant PACA-CA 6 136901449 136901449 single base substitution G T synonymous_variant I1169I 3507C>A PACA-CA 6 136901449 136901449 single base substitution G T synonymous_variant I416I 1248C>A PACA-CA 6 136920137 136920137 single base substitution C T intron_variant PACA-CA 6 136926779 136926779 single base substitution G A intron_variant PACA-CA 6 136930772 136930772 single base substitution A T intron_variant PACA-CA 6 136934634 136934634 single base substitution G A intron_variant PACA-CA 6 136937663 136937663 single base substitution G A intron_variant PACA-CA 6 136941391 136941394 deletion of <=200bp GAGT - intron_variant PACA-CA 6 136941926 136941926 single base substitution G C intron_variant PACA-CA 6 136942055 136942055 single base substitution G A intron_variant PACA-CA 6 136947030 136947030 single base substitution T A intron_variant PACA-CA 6 136952026 136952026 single base substitution G T intron_variant PACA-CA 6 136954943 136954943 single base substitution C T intron_variant PACA-CA 6 136955623 136955623 single base substitution T C intron_variant PACA-CA 6 136957053 136957053 insertion of <=200bp - T intron_variant PACA-CA 6 136957892 136957892 single base substitution G A intron_variant PACA-CA 6 136961947 136961947 single base substitution A G intron_variant PACA-CA 6 136962880 136962880 insertion of <=200bp - T intron_variant PACA-CA 6 136965270 136965270 single base substitution C T intron_variant PACA-CA 6 136970012 136970012 single base substitution C T intron_variant PACA-CA 6 136972313 136972313 single base substitution G A intron_variant PACA-CA 6 136976487 136976487 single base substitution T C intron_variant PACA-CA 6 136978100 136978100 single base substitution C T intron_variant PACA-CA 6 136978100 136978100 single base substitution C T upstream_gene_variant PACA-CA 6 136980397 136980397 single base substitution G C missense_variant Q496E 1486C>G PACA-CA 6 136980397 136980397 single base substitution G C upstream_gene_variant PACA-CA 6 136986278 136986278 single base substitution G A intron_variant PACA-CA 6 136988713 136988713 single base substitution A C intron_variant PACA-CA 6 136991124 136991124 single base substitution A G intron_variant PACA-CA 6 137003813 137003813 single base substitution T G intron_variant PACA-CA 6 137004082 137004082 single base substitution A C intron_variant PACA-CA 6 137006953 137006953 single base substitution G C intron_variant PACA-CA 6 137008546 137008546 single base substitution G T intron_variant PACA-CA 6 137009791 137009791 single base substitution A G intron_variant PACA-CA 6 137015400 137015400 single base substitution G A synonymous_variant P377P 1131C>T PACA-CA 6 137017561 137017561 single base substitution C G intron_variant PACA-CA 6 137020176 137020176 single base substitution C A intron_variant PACA-CA 6 137023164 137023164 single base substitution C T intron_variant PACA-CA 6 137032221 137032221 single base substitution T C intron_variant PACA-CA 6 137037019 137037019 single base substitution T A intron_variant PACA-CA 6 137039597 137039597 single base substitution C A intron_variant PACA-CA 6 137040055 137040055 single base substitution T G intron_variant PACA-CA 6 137041319 137041319 single base substitution G A intron_variant PACA-CA 6 137043927 137043927 single base substitution C T intron_variant PACA-CA 6 137044040 137044040 single base substitution G A intron_variant PACA-CA 6 137046979 137046979 single base substitution C T intron_variant PACA-CA 6 137049068 137049068 single base substitution C G intron_variant PACA-CA 6 137050973 137050973 single base substitution C T intron_variant PACA-CA 6 137053550 137053550 single base substitution G A intron_variant PACA-CA 6 137065735 137065735 single base substitution A C intron_variant PACA-CA 6 137067791 137067791 single base substitution G A intron_variant PACA-CA 6 137072175 137072175 deletion of <=200bp T - intron_variant PACA-CA 6 137074274 137074274 single base substitution A G intron_variant PACA-CA 6 137075915 137075915 single base substitution G A intron_variant PACA-CA 6 137077315 137077315 single base substitution G A intron_variant PACA-CA 6 137077884 137077884 single base substitution C A intron_variant PACA-CA 6 137078728 137078728 single base substitution T A intron_variant PACA-CA 6 137081752 137081752 single base substitution G T intron_variant PACA-CA 6 137091255 137091255 deletion of <=200bp T - intron_variant PACA-CA 6 137096781 137096781 single base substitution T C intron_variant PACA-CA 6 137100239 137100239 single base substitution A C intron_variant PACA-CA 6 137100936 137100936 single base substitution A T intron_variant PACA-CA 6 137101926 137101926 single base substitution T C intron_variant PACA-CA 6 137102679 137102679 single base substitution T C intron_variant PACA-CA 6 137105516 137105516 single base substitution A G intron_variant PACA-CA 6 137111936 137111936 single base substitution C G intron_variant PACA-CA 6 137112613 137112627 deletion of <=200bp TGGGCGGTGGGTGGA - intron_variant PACA-CA 6 137115092 137115092 single base substitution A G upstream_gene_variant PAEN-AU 6 136916903 136916903 single base substitution C T intron_variant PAEN-AU 6 136955493 136955493 single base substitution T C intron_variant PAEN-AU 6 136962702 136962702 single base substitution C A intron_variant PAEN-AU 6 137016753 137016753 single base substitution T C intron_variant PAEN-IT 6 136953219 136953219 single base substitution C T intron_variant PAEN-IT 6 136976106 136976106 single base substitution G T intron_variant PAEN-IT 6 137056839 137056839 single base substitution G A intron_variant PAEN-IT 6 137107250 137107250 single base substitution G A intron_variant PBCA-DE 6 136882148 136882148 single base substitution G T intron_variant PBCA-DE 6 136883109 136883109 single base substitution G C intron_variant PBCA-DE 6 136884454 136884454 single base substitution A T intron_variant PBCA-DE 6 136890662 136890662 single base substitution T C intron_variant PBCA-DE 6 136915941 136915942 deletion of <=200bp TG - intron_variant PBCA-DE 6 136918830 136918830 single base substitution G A intron_variant PBCA-DE 6 136919374 136919374 single base substitution C T intron_variant PBCA-DE 6 136920614 136920615 deletion of <=200bp TC - intron_variant PBCA-DE 6 136923234 136923234 single base substitution A G intron_variant PBCA-DE 6 136929409 136929409 deletion of <=200bp A - intron_variant PBCA-DE 6 136932738 136932738 single base substitution G A intron_variant PBCA-DE 6 136943654 136943654 single base substitution C T intron_variant PBCA-DE 6 136948013 136948013 deletion of <=200bp T - intron_variant PBCA-DE 6 136948576 136948576 single base substitution C T intron_variant PBCA-DE 6 136951279 136951279 single base substitution T C intron_variant PBCA-DE 6 136965040 136965040 insertion of <=200bp - AT intron_variant PBCA-DE 6 136965040 136965041 deletion of <=200bp AT - intron_variant PBCA-DE 6 136965898 136965898 single base substitution A T intron_variant PBCA-DE 6 136973396 136973396 single base substitution G T intron_variant PBCA-DE 6 136976640 136976640 single base substitution C A intron_variant PBCA-DE 6 136984923 136984923 insertion of <=200bp - T intron_variant PBCA-DE 6 136985709 136985709 single base substitution C G intron_variant PBCA-DE 6 136995265 136995265 insertion of <=200bp - A intron_variant PBCA-DE 6 136998840 136998840 single base substitution C G intron_variant PBCA-DE 6 137011114 137011114 insertion of <=200bp - T intron_variant PBCA-DE 6 137038499 137038499 single base substitution T A intron_variant PBCA-DE 6 137042227 137042227 deletion of <=200bp T - intron_variant PBCA-DE 6 137044566 137044566 single base substitution A G intron_variant PBCA-DE 6 137046660 137046660 single base substitution C T intron_variant PBCA-DE 6 137050617 137050617 single base substitution G A intron_variant PBCA-DE 6 137057148 137057148 insertion of <=200bp - T intron_variant PBCA-DE 6 137058176 137058177 deletion of <=200bp TA - intron_variant PBCA-DE 6 137060081 137060082 deletion of <=200bp CA - intron_variant PBCA-DE 6 137061181 137061181 single base substitution A G intron_variant PBCA-DE 6 137064499 137064499 insertion of <=200bp - A intron_variant PBCA-DE 6 137072995 137072995 single base substitution C T intron_variant PBCA-DE 6 137073386 137073386 single base substitution G T intron_variant PBCA-DE 6 137080204 137080204 single base substitution G C intron_variant PBCA-DE 6 137089089 137089089 single base substitution T C intron_variant PRAD-CA 6 136877795 136877795 single base substitution C T downstream_gene_variant PRAD-CA 6 136906257 136906257 single base substitution G T intron_variant PRAD-CA 6 136906257 136906257 single base substitution G T upstream_gene_variant PRAD-CA 6 136908489 136908489 single base substitution G A intron_variant PRAD-CA 6 136908489 136908489 single base substitution G A upstream_gene_variant PRAD-CA 6 136932708 136932708 single base substitution T C intron_variant PRAD-CA 6 136934797 136934797 single base substitution G A intron_variant PRAD-CA 6 136936499 136936499 single base substitution T A intron_variant PRAD-CA 6 136949125 136949125 single base substitution A G intron_variant PRAD-CA 6 136963152 136963152 single base substitution A T intron_variant PRAD-CA 6 136963153 136963153 single base substitution T A intron_variant PRAD-CA 6 136963167 136963167 single base substitution T A intron_variant PRAD-CA 6 136963168 136963168 single base substitution A T intron_variant PRAD-CA 6 137017945 137017945 single base substitution A T intron_variant PRAD-CA 6 137028323 137028323 single base substitution A G intron_variant PRAD-CA 6 137051310 137051310 single base substitution T G intron_variant PRAD-CA 6 137082860 137082860 single base substitution T A intron_variant PRAD-CA 6 137082968 137082968 single base substitution C A intron_variant PRAD-CA 6 137091896 137091896 single base substitution C A intron_variant PRAD-CA 6 137093032 137093032 single base substitution T A intron_variant PRAD-CA 6 137105368 137105368 single base substitution C A intron_variant PRAD-UK 6 136897225 136897225 single base substitution C G downstream_gene_variant PRAD-UK 6 136897225 136897225 single base substitution C G intron_variant PRAD-UK 6 136901861 136901861 single base substitution G A intron_variant PRAD-UK 6 136911052 136911052 single base substitution C A intron_variant PRAD-UK 6 136913294 136913294 single base substitution C T intron_variant PRAD-UK 6 136914048 136914048 deletion of <=200bp T - intron_variant PRAD-UK 6 136925131 136925131 single base substitution G A intron_variant PRAD-UK 6 136931547 136931547 deletion of <=200bp T - intron_variant PRAD-UK 6 136932367 136932389 deletion of <=200bp AGCAATTATTTCTTTAATTACAT - intron_variant PRAD-UK 6 136961292 136961292 single base substitution G A intron_variant PRAD-UK 6 136967770 136967770 single base substitution A C intron_variant PRAD-UK 6 136975767 136975767 single base substitution A G intron_variant PRAD-UK 6 136994189 136994189 single base substitution A T intron_variant PRAD-UK 6 137001698 137001698 single base substitution T C intron_variant PRAD-UK 6 137009001 137009001 single base substitution G A intron_variant PRAD-UK 6 137032219 137032219 single base substitution C G intron_variant PRAD-UK 6 137053855 137053855 single base substitution C T intron_variant PRAD-UK 6 137054889 137054889 insertion of <=200bp - CCCATTGTCAACATCCCCC intron_variant PRAD-UK 6 137071406 137071406 single base substitution G A intron_variant PRAD-UK 6 137097600 137097600 single base substitution C A intron_variant PRAD-US 6 136913360 136913360 single base substitution G A missense_variant T1059M 3176C>T PRAD-US 6 136913360 136913360 single base substitution G A missense_variant T306M 917C>T PRAD-US 6 136913365 136913365 single base substitution G T synonymous_variant I1057I 3171C>A PRAD-US 6 136913365 136913365 single base substitution G T synonymous_variant I304I 912C>A PRAD-US 6 136990479 136990479 single base substitution C A synonymous_variant A436A 1308G>T READ-US 6 136878912 136878912 single base substitution C T missense_variant R1370Q 4109G>A READ-US 6 136878912 136878912 single base substitution C T missense_variant R617Q 1850G>A READ-US 6 136878914 136878914 single base substitution A C missense_variant F1369L 4107T>G READ-US 6 136878914 136878914 single base substitution A C missense_variant F616L 1848T>G READ-US 6 136913319 136913319 single base substitution A T missense_variant L1073I 3217T>A READ-US 6 136913319 136913319 single base substitution A T missense_variant L320I 958T>A READ-US 6 137113137 137113137 single base substitution G A synonymous_variant S53S 159C>T RECA-EU 6 136873551 136873551 single base substitution A T downstream_gene_variant RECA-EU 6 136883772 136883772 single base substitution T C intron_variant RECA-EU 6 136914472 136914472 single base substitution T A intron_variant RECA-EU 6 136917720 136917720 single base substitution T C intron_variant RECA-EU 6 136921850 136921850 single base substitution A T intron_variant RECA-EU 6 136940417 136940417 single base substitution T C intron_variant RECA-EU 6 136948584 136948584 single base substitution A G intron_variant RECA-EU 6 136959160 136959160 single base substitution A C intron_variant RECA-EU 6 136969652 136969652 single base substitution T C intron_variant RECA-EU 6 136976524 136976524 single base substitution C T intron_variant RECA-EU 6 136992506 136992506 single base substitution T A intron_variant RECA-EU 6 136995270 136995270 single base substitution A C intron_variant RECA-EU 6 136997002 136997002 single base substitution C A intron_variant RECA-EU 6 137011157 137011157 single base substitution C G intron_variant RECA-EU 6 137032659 137032659 single base substitution C T intron_variant RECA-EU 6 137044806 137044806 single base substitution C A intron_variant RECA-EU 6 137046213 137046213 single base substitution G A intron_variant RECA-EU 6 137058960 137058960 single base substitution A C intron_variant RECA-EU 6 137059962 137059962 single base substitution G A intron_variant RECA-EU 6 137059963 137059963 single base substitution C T intron_variant RECA-EU 6 137063430 137063430 single base substitution A G intron_variant RECA-EU 6 137084647 137084647 single base substitution C G intron_variant RECA-EU 6 137084913 137084913 single base substitution G C intron_variant RECA-EU 6 137086386 137086386 single base substitution G T intron_variant RECA-EU 6 137102246 137102246 single base substitution G A intron_variant RECA-EU 6 137102555 137102555 single base substitution A G intron_variant RECA-EU 6 137105343 137105343 single base substitution G T intron_variant RECA-EU 6 137105463 137105463 single base substitution T A intron_variant RECA-EU 6 137109602 137109602 single base substitution A G intron_variant RECA-EU 6 137114406 137114406 single base substitution G C upstream_gene_variant SKCA-BR 6 136873688 136873688 single base substitution G C downstream_gene_variant SKCA-BR 6 136875544 136875544 single base substitution A C downstream_gene_variant SKCA-BR 6 136876027 136876027 single base substitution C T downstream_gene_variant SKCA-BR 6 136878173 136878173 single base substitution T C downstream_gene_variant SKCA-BR 6 136879239 136879239 single base substitution G A intron_variant SKCA-BR 6 136879240 136879240 single base substitution G A intron_variant SKCA-BR 6 136880529 136880529 single base substitution A C intron_variant SKCA-BR 6 136884973 136884973 single base substitution C T intron_variant SKCA-BR 6 136885201 136885201 single base substitution G A intron_variant SKCA-BR 6 136885768 136885768 single base substitution G A intron_variant SKCA-BR 6 136886767 136886767 single base substitution C T intron_variant SKCA-BR 6 136887523 136887523 single base substitution C T intron_variant SKCA-BR 6 136888301 136888301 single base substitution A G intron_variant SKCA-BR 6 136890134 136890134 single base substitution C T intron_variant SKCA-BR 6 136891074 136891074 single base substitution C T intron_variant SKCA-BR 6 136895212 136895212 single base substitution G A intron_variant SKCA-BR 6 136899218 136899218 single base substitution C T downstream_gene_variant SKCA-BR 6 136899218 136899218 single base substitution C T intron_variant SKCA-BR 6 136901189 136901189 single base substitution A G downstream_gene_variant SKCA-BR 6 136901189 136901189 single base substitution A G intron_variant SKCA-BR 6 136903401 136903403 deletion of <=200bp CGT - intron_variant SKCA-BR 6 136903907 136903907 single base substitution T A intron_variant SKCA-BR 6 136904733 136904733 single base substitution A T exon_variant SKCA-BR 6 136904733 136904733 single base substitution A T missense_variant I1124N 3371T>A SKCA-BR 6 136904733 136904733 single base substitution A T missense_variant I371N 1112T>A SKCA-BR 6 136906584 136906584 single base substitution G C intron_variant SKCA-BR 6 136906584 136906584 single base substitution G C upstream_gene_variant SKCA-BR 6 136907028 136907028 single base substitution A G intron_variant SKCA-BR 6 136907028 136907028 single base substitution A G upstream_gene_variant SKCA-BR 6 136910369 136910369 single base substitution C T intron_variant SKCA-BR 6 136910369 136910369 single base substitution C T upstream_gene_variant SKCA-BR 6 136914871 136914871 single base substitution G A intron_variant SKCA-BR 6 136916199 136916199 single base substitution G A intron_variant SKCA-BR 6 136920749 136920749 single base substitution G A intron_variant SKCA-BR 6 136921226 136921226 single base substitution C T intron_variant SKCA-BR 6 136926313 136926313 single base substitution T G intron_variant SKCA-BR 6 136928351 136928351 single base substitution G A intron_variant SKCA-BR 6 136929312 136929312 single base substitution G A intron_variant SKCA-BR 6 136929747 136929747 single base substitution C T intron_variant SKCA-BR 6 136929748 136929748 single base substitution C T intron_variant SKCA-BR 6 136932287 136932287 single base substitution G A intron_variant SKCA-BR 6 136937633 136937633 single base substitution G A intron_variant SKCA-BR 6 136938054 136938054 single base substitution C T intron_variant SKCA-BR 6 136938485 136938485 single base substitution C T intron_variant SKCA-BR 6 136939098 136939098 single base substitution G A intron_variant SKCA-BR 6 136940860 136940860 single base substitution G A intron_variant SKCA-BR 6 136942254 136942255 deletion of <=200bp GT - intron_variant SKCA-BR 6 136943624 136943624 single base substitution G A intron_variant SKCA-BR 6 136943659 136943659 single base substitution G A intron_variant SKCA-BR 6 136943660 136943660 single base substitution G A intron_variant SKCA-BR 6 136943687 136943687 single base substitution G A intron_variant SKCA-BR 6 136947418 136947418 single base substitution C T intron_variant SKCA-BR 6 136947917 136947917 single base substitution G A intron_variant SKCA-BR 6 136949136 136949136 single base substitution T C intron_variant SKCA-BR 6 136950855 136950855 single base substitution G A intron_variant SKCA-BR 6 136950904 136950920 deletion of <=200bp CATTTATTTATTTATTT - intron_variant SKCA-BR 6 136951214 136951214 single base substitution C T intron_variant SKCA-BR 6 136955149 136955149 single base substitution C A intron_variant SKCA-BR 6 136956103 136956103 single base substitution A C intron_variant SKCA-BR 6 136956716 136956716 single base substitution A G intron_variant SKCA-BR 6 136958318 136958318 single base substitution G A intron_variant SKCA-BR 6 136962787 136962789 deletion of <=200bp GTT - intron_variant SKCA-BR 6 136963153 136963153 insertion of <=200bp - TAAATA intron_variant SKCA-BR 6 136963168 136963168 insertion of <=200bp - AAAATAAAAATAAAAT intron_variant SKCA-BR 6 136963172 136963172 single base substitution A T intron_variant SKCA-BR 6 136963173 136963173 single base substitution T A intron_variant SKCA-BR 6 136963219 136963234 deletion of <=200bp AAAATAAAATAAAATT - intron_variant SKCA-BR 6 136964178 136964178 single base substitution A T intron_variant SKCA-BR 6 136966240 136966240 single base substitution T A intron_variant SKCA-BR 6 136966619 136966619 single base substitution G C intron_variant SKCA-BR 6 136969299 136969299 single base substitution G A intron_variant SKCA-BR 6 136970478 136970478 single base substitution G C intron_variant SKCA-BR 6 136973267 136973267 single base substitution G A intron_variant SKCA-BR 6 136975014 136975014 single base substitution C T intron_variant SKCA-BR 6 136976625 136976625 single base substitution G A intron_variant SKCA-BR 6 136976845 136976847 deletion of <=200bp AGT - intron_variant SKCA-BR 6 136979446 136979447 deletion of <=200bp TC - intron_variant SKCA-BR 6 136979446 136979447 deletion of <=200bp TC - upstream_gene_variant SKCA-BR 6 136979450 136979451 deletion of <=200bp TC - intron_variant SKCA-BR 6 136979450 136979451 deletion of <=200bp TC - upstream_gene_variant SKCA-BR 6 136979451 136979451 single base substitution C T intron_variant SKCA-BR 6 136979451 136979451 single base substitution C T upstream_gene_variant SKCA-BR 6 136979451 136979452 deletion of <=200bp CT - intron_variant SKCA-BR 6 136979451 136979452 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 6 136981272 136981272 single base substitution C T intron_variant SKCA-BR 6 136981272 136981272 single base substitution C T upstream_gene_variant SKCA-BR 6 136987811 136987811 single base substitution C T intron_variant SKCA-BR 6 136989250 136989250 single base substitution G A intron_variant SKCA-BR 6 136989997 136989997 single base substitution C T intron_variant SKCA-BR 6 136992682 136992682 single base substitution C T intron_variant SKCA-BR 6 136992885 136992885 single base substitution C T intron_variant SKCA-BR 6 136993967 136993967 single base substitution A T intron_variant SKCA-BR 6 136997139 136997139 single base substitution G A intron_variant SKCA-BR 6 136997886 136997886 single base substitution A G intron_variant SKCA-BR 6 136999829 136999829 single base substitution T G intron_variant SKCA-BR 6 137002788 137002788 single base substitution G A intron_variant SKCA-BR 6 137003666 137003666 single base substitution T G intron_variant SKCA-BR 6 137004188 137004188 single base substitution A G intron_variant SKCA-BR 6 137004200 137004200 single base substitution T A intron_variant SKCA-BR 6 137004207 137004207 single base substitution T A intron_variant SKCA-BR 6 137004710 137004710 single base substitution C T intron_variant SKCA-BR 6 137004935 137004935 single base substitution C T intron_variant SKCA-BR 6 137004949 137004949 single base substitution G A intron_variant SKCA-BR 6 137006629 137006629 single base substitution C T intron_variant SKCA-BR 6 137007269 137007269 single base substitution T G intron_variant SKCA-BR 6 137010001 137010001 single base substitution G A intron_variant SKCA-BR 6 137010134 137010135 deletion of <=200bp GA - intron_variant SKCA-BR 6 137010322 137010322 single base substitution C T intron_variant SKCA-BR 6 137012691 137012691 single base substitution G C intron_variant SKCA-BR 6 137012747 137012748 deletion of <=200bp CA - intron_variant SKCA-BR 6 137013598 137013598 single base substitution G A intron_variant SKCA-BR 6 137014104 137014104 single base substitution G A intron_variant SKCA-BR 6 137015032 137015032 single base substitution A C intron_variant SKCA-BR 6 137016177 137016177 single base substitution G A intron_variant SKCA-BR 6 137016395 137016395 single base substitution C G intron_variant SKCA-BR 6 137020562 137020562 single base substitution C T intron_variant SKCA-BR 6 137020976 137020976 single base substitution A T intron_variant SKCA-BR 6 137021904 137021904 single base substitution G A intron_variant SKCA-BR 6 137022766 137022766 single base substitution G A intron_variant SKCA-BR 6 137022801 137022801 single base substitution G A intron_variant SKCA-BR 6 137024451 137024451 single base substitution G A intron_variant SKCA-BR 6 137024825 137024825 single base substitution G A intron_variant SKCA-BR 6 137025293 137025293 single base substitution T G intron_variant SKCA-BR 6 137027913 137027913 single base substitution G A intron_variant SKCA-BR 6 137030163 137030163 single base substitution C T intron_variant SKCA-BR 6 137030330 137030330 single base substitution C T intron_variant SKCA-BR 6 137031002 137031002 single base substitution C T intron_variant SKCA-BR 6 137031196 137031196 single base substitution C T intron_variant SKCA-BR 6 137031407 137031407 single base substitution C T intron_variant SKCA-BR 6 137032140 137032140 single base substitution G A intron_variant SKCA-BR 6 137032809 137032813 deletion of <=200bp AAAAG - intron_variant SKCA-BR 6 137032813 137032813 single base substitution G A intron_variant SKCA-BR 6 137032931 137032931 single base substitution G A intron_variant SKCA-BR 6 137034145 137034145 single base substitution G A intron_variant SKCA-BR 6 137036196 137036196 single base substitution C A intron_variant SKCA-BR 6 137039711 137039711 single base substitution T A intron_variant SKCA-BR 6 137042123 137042123 single base substitution C T intron_variant SKCA-BR 6 137043293 137043293 single base substitution G A intron_variant SKCA-BR 6 137044723 137044723 single base substitution G A intron_variant SKCA-BR 6 137047024 137047024 single base substitution G A intron_variant SKCA-BR 6 137048850 137048850 single base substitution G T intron_variant SKCA-BR 6 137050853 137050853 single base substitution G A intron_variant SKCA-BR 6 137051305 137051305 single base substitution G T intron_variant SKCA-BR 6 137051311 137051312 deletion of <=200bp TG - intron_variant SKCA-BR 6 137051312 137051312 single base substitution G T intron_variant SKCA-BR 6 137051471 137051471 single base substitution T A intron_variant SKCA-BR 6 137051859 137051864 deletion of <=200bp CAAAAA - intron_variant SKCA-BR 6 137052256 137052256 single base substitution G A intron_variant SKCA-BR 6 137053672 137053672 single base substitution A G intron_variant SKCA-BR 6 137054431 137054431 single base substitution C T intron_variant SKCA-BR 6 137056400 137056400 single base substitution G A intron_variant SKCA-BR 6 137056726 137056726 single base substitution T C intron_variant SKCA-BR 6 137057393 137057393 single base substitution C T intron_variant SKCA-BR 6 137058457 137058457 single base substitution C T intron_variant SKCA-BR 6 137059778 137059778 single base substitution C T intron_variant SKCA-BR 6 137061975 137061975 single base substitution G A intron_variant SKCA-BR 6 137065109 137065109 single base substitution G A intron_variant SKCA-BR 6 137065223 137065223 single base substitution G A intron_variant SKCA-BR 6 137067537 137067537 single base substitution T C intron_variant SKCA-BR 6 137070308 137070308 single base substitution C T intron_variant SKCA-BR 6 137070498 137070498 single base substitution G A intron_variant SKCA-BR 6 137071194 137071194 single base substitution C T intron_variant SKCA-BR 6 137071723 137071723 single base substitution C T intron_variant SKCA-BR 6 137071896 137071896 single base substitution T C intron_variant SKCA-BR 6 137075431 137075431 single base substitution C T intron_variant SKCA-BR 6 137075989 137075989 single base substitution G T intron_variant SKCA-BR 6 137076134 137076134 single base substitution C T intron_variant SKCA-BR 6 137076827 137076827 single base substitution C A intron_variant SKCA-BR 6 137076828 137076828 single base substitution A G intron_variant SKCA-BR 6 137078014 137078014 single base substitution C T intron_variant SKCA-BR 6 137078139 137078139 single base substitution G A intron_variant SKCA-BR 6 137078720 137078720 insertion of <=200bp - TA intron_variant SKCA-BR 6 137078728 137078728 single base substitution T A intron_variant SKCA-BR 6 137079081 137079081 single base substitution G A intron_variant SKCA-BR 6 137082426 137082426 insertion of <=200bp - TAA intron_variant SKCA-BR 6 137084353 137084353 single base substitution A G intron_variant SKCA-BR 6 137085027 137085027 single base substitution C T intron_variant SKCA-BR 6 137086803 137086803 single base substitution A C intron_variant SKCA-BR 6 137087629 137087629 single base substitution C T intron_variant SKCA-BR 6 137089347 137089347 single base substitution G A intron_variant SKCA-BR 6 137089522 137089522 single base substitution A G intron_variant SKCA-BR 6 137095369 137095369 single base substitution A G intron_variant SKCA-BR 6 137096336 137096336 single base substitution G A intron_variant SKCA-BR 6 137097021 137097021 single base substitution G T intron_variant SKCA-BR 6 137098911 137098911 single base substitution G A intron_variant SKCA-BR 6 137100580 137100580 insertion of <=200bp - CA intron_variant SKCA-BR 6 137104498 137104498 single base substitution C T intron_variant SKCA-BR 6 137106633 137106633 single base substitution G A intron_variant SKCA-BR 6 137106654 137106654 single base substitution A G intron_variant SKCA-BR 6 137107937 137107938 deletion of <=200bp TC - intron_variant SKCA-BR 6 137108019 137108019 single base substitution C T intron_variant SKCA-BR 6 137108600 137108600 single base substitution G A intron_variant SKCA-BR 6 137108792 137108792 single base substitution G A intron_variant SKCA-BR 6 137113676 137113681 deletion of <=200bp CACCCG - upstream_gene_variant SKCA-BR 6 137113684 137113684 single base substitution G C upstream_gene_variant SKCA-BR 6 137113853 137113853 single base substitution C T upstream_gene_variant SKCA-BR 6 137115120 137115120 single base substitution G A upstream_gene_variant SKCM-US 6 136878955 136878955 single base substitution C T missense_variant G1356R 4066G>A SKCM-US 6 136878955 136878955 single base substitution C T missense_variant G603R 1807G>A SKCM-US 6 136882775 136882775 single base substitution C T missense_variant E1295K 3883G>A SKCM-US 6 136882775 136882775 single base substitution C T missense_variant E542K 1624G>A SKCM-US 6 136888786 136888786 single base substitution C T missense_variant M1248I 3744G>A SKCM-US 6 136888786 136888786 single base substitution C T missense_variant M495I 1485G>A SKCM-US 6 136888793 136888793 single base substitution C T missense_variant G1246E 3737G>A SKCM-US 6 136888793 136888793 single base substitution C T missense_variant G493E 1478G>A SKCM-US 6 136901503 136901503 single base substitution C T exon_variant SKCM-US 6 136901503 136901503 single base substitution C T stop_gained W1151* 3453G>A SKCM-US 6 136901503 136901503 single base substitution C T stop_gained W398* 1194G>A SKCM-US 6 136904796 136904796 single base substitution C T exon_variant SKCM-US 6 136904796 136904796 single base substitution C T missense_variant R1103Q 3308G>A SKCM-US 6 136904796 136904796 single base substitution C T missense_variant R350Q 1049G>A SKCM-US 6 136913365 136913365 single base substitution G A synonymous_variant I1057I 3171C>T SKCM-US 6 136913365 136913365 single base substitution G A synonymous_variant I304I 912C>T SKCM-US 6 136913467 136913467 single base substitution C T synonymous_variant E1023E 3069G>A SKCM-US 6 136913467 136913467 single base substitution C T synonymous_variant E270E 810G>A SKCM-US 6 136913610 136913610 single base substitution T A missense_variant E1007D 3021A>T SKCM-US 6 136913610 136913610 single base substitution T A missense_variant E254D 762A>T SKCM-US 6 136923045 136923045 single base substitution A C missense_variant C165G 493T>G SKCM-US 6 136923045 136923045 single base substitution A C missense_variant C918G 2752T>G SKCM-US 6 136923095 136923095 single base substitution G A missense_variant P148L 443C>T SKCM-US 6 136923095 136923095 single base substitution G A missense_variant P901L 2702C>T SKCM-US 6 136934291 136934291 single base substitution G A synonymous_variant L41L 123C>T SKCM-US 6 136934291 136934291 single base substitution G A synonymous_variant L794L 2382C>T SKCM-US 6 136934293 136934293 single base substitution G A missense_variant L41F 121C>T SKCM-US 6 136934293 136934293 single base substitution G A missense_variant L794F 2380C>T SKCM-US 6 136934327 136934327 single base substitution A T missense_variant F29L 87T>A SKCM-US 6 136934327 136934327 single base substitution A T missense_variant F782L 2346T>A SKCM-US 6 136934353 136934353 single base substitution T G missense_variant K21Q 61A>C SKCM-US 6 136934353 136934353 single base substitution T G missense_variant K774Q 2320A>C SKCM-US 6 136935337 136935337 single base substitution C T 5_prime_UTR_variant SKCM-US 6 136935337 136935337 single base substitution C T synonymous_variant E746E 2238G>A SKCM-US 6 136944008 136944008 single base substitution C T intron_variant SKCM-US 6 136944008 136944008 single base substitution C T missense_variant E710K 2128G>A SKCM-US 6 136944029 136944029 single base substitution G A intron_variant SKCM-US 6 136944029 136944029 single base substitution G A stop_gained Q703* 2107C>T SKCM-US 6 136958507 136958507 single base substitution C T 5_prime_UTR_variant SKCM-US 6 136958507 136958507 single base substitution C T missense_variant G658R 1972G>A SKCM-US 6 136977592 136977592 single base substitution G A 5_prime_UTR_variant SKCM-US 6 136977592 136977592 single base substitution G A synonymous_variant L511L 1533C>T SKCM-US 6 136980431 136980431 single base substitution G A synonymous_variant A484A 1452C>T SKCM-US 6 136980431 136980431 single base substitution G A upstream_gene_variant SKCM-US 6 136980443 136980443 single base substitution A T missense_variant F480L 1440T>A SKCM-US 6 136980443 136980443 single base substitution A T upstream_gene_variant SKCM-US 6 136980466 136980466 single base substitution G A stop_gained Q473* 1417C>T SKCM-US 6 136980466 136980466 single base substitution G A upstream_gene_variant SKCM-US 6 137015310 137015310 single base substitution C T synonymous_variant T407T 1221G>A SKCM-US 6 137018414 137018414 single base substitution G A synonymous_variant I306I 918C>T SKCM-US 6 137018478 137018478 deletion of <=200bp T - frameshift_variant N285 SKCM-US 6 137019667 137019667 single base substitution G A missense_variant R256C 766C>T SKCM-US 6 137026271 137026271 single base substitution C T missense_variant E197K 589G>A SKCM-US 6 137041714 137041714 single base substitution C T synonymous_variant V154V 462G>A STAD-US 6 136888937 136888937 single base substitution T C missense_variant H1198R 3593A>G STAD-US 6 136888937 136888937 single base substitution T C missense_variant H445R 1334A>G STAD-US 6 136901470 136901470 single base substitution C T downstream_gene_variant STAD-US 6 136901470 136901470 single base substitution C T synonymous_variant A1162A 3486G>A STAD-US 6 136901470 136901470 single base substitution C T synonymous_variant A409A 1227G>A STAD-US 6 136904864 136904864 single base substitution C T exon_variant STAD-US 6 136904864 136904864 single base substitution C T synonymous_variant P1080P 3240G>A STAD-US 6 136904864 136904864 single base substitution C T synonymous_variant P327P 981G>A STAD-US 6 136904865 136904865 single base substitution G A exon_variant STAD-US 6 136904865 136904865 single base substitution G A missense_variant P1080L 3239C>T STAD-US 6 136904865 136904865 single base substitution G A missense_variant P327L 980C>T STAD-US 6 136913687 136913687 single base substitution A G missense_variant Y229H 685T>C STAD-US 6 136913687 136913687 single base substitution A G missense_variant Y982H 2944T>C STAD-US 6 136923031 136923031 single base substitution A G synonymous_variant D169D 507T>C STAD-US 6 136923031 136923031 single base substitution A G synonymous_variant D922D 2766T>C STAD-US 6 136926362 136926362 single base substitution T C synonymous_variant Q135Q 405A>G STAD-US 6 136926362 136926362 single base substitution T C synonymous_variant Q888Q 2664A>G STAD-US 6 136943992 136943992 insertion of <=200bp - TC frameshift_variant D715E? STAD-US 6 136943992 136943992 insertion of <=200bp - TC intron_variant STAD-US 6 136977530 136977530 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 6 136977530 136977530 single base substitution G A missense_variant P532L 1595C>T STAD-US 6 137018441 137018441 single base substitution T C synonymous_variant A297A 891A>G UCEC-US 6 136878912 136878912 single base substitution C T missense_variant R1370Q 4109G>A UCEC-US 6 136878912 136878912 single base substitution C T missense_variant R617Q 1850G>A UCEC-US 6 136883646 136883646 single base substitution G A missense_variant P1290L 3869C>T UCEC-US 6 136883646 136883646 single base substitution G A missense_variant P537L 1610C>T UCEC-US 6 136883734 136883734 single base substitution G A missense_variant R1261W 3781C>T UCEC-US 6 136883734 136883734 single base substitution G A missense_variant R508W 1522C>T UCEC-US 6 136901477 136901477 single base substitution C T exon_variant UCEC-US 6 136901477 136901477 single base substitution C T missense_variant R1160Q 3479G>A UCEC-US 6 136901477 136901477 single base substitution C T missense_variant R407Q 1220G>A UCEC-US 6 136901528 136901528 single base substitution C T exon_variant UCEC-US 6 136901528 136901528 single base substitution C T missense_variant R1143Q 3428G>A UCEC-US 6 136901528 136901528 single base substitution C T missense_variant R390Q 1169G>A UCEC-US 6 136904818 136904818 single base substitution C A exon_variant UCEC-US 6 136904818 136904818 single base substitution C A stop_gained E1096* 3286G>T UCEC-US 6 136904818 136904818 single base substitution C A stop_gained E343* 1027G>T UCEC-US 6 136904864 136904864 single base substitution C T exon_variant UCEC-US 6 136904864 136904864 single base substitution C T synonymous_variant P1080P 3240G>A UCEC-US 6 136904864 136904864 single base substitution C T synonymous_variant P327P 981G>A UCEC-US 6 136913321 136913321 single base substitution G A missense_variant S1072F 3215C>T UCEC-US 6 136913321 136913321 single base substitution G A missense_variant S319F 956C>T UCEC-US 6 136913359 136913359 single base substitution C T synonymous_variant T1059T 3177G>A UCEC-US 6 136913359 136913359 single base substitution C T synonymous_variant T306T 918G>A UCEC-US 6 136913382 136913382 single base substitution C T missense_variant A1052T 3154G>A UCEC-US 6 136913382 136913382 single base substitution C T missense_variant A299T 895G>A UCEC-US 6 136913412 136913412 single base substitution A C missense_variant F1042V 3124T>G UCEC-US 6 136913412 136913412 single base substitution A C missense_variant F289V 865T>G UCEC-US 6 136913420 136913420 single base substitution G T missense_variant S1039Y 3116C>A UCEC-US 6 136913420 136913420 single base substitution G T missense_variant S286Y 857C>A UCEC-US 6 136913424 136913424 single base substitution C A missense_variant D1038Y 3112G>T UCEC-US 6 136913424 136913424 single base substitution C A missense_variant D285Y 853G>T UCEC-US 6 136913591 136913591 single base substitution G A missense_variant R1014W 3040C>T UCEC-US 6 136913591 136913591 single base substitution G A missense_variant R261W 781C>T UCEC-US 6 136923006 136923006 single base substitution C T missense_variant D178N 532G>A UCEC-US 6 136923006 136923006 single base substitution C T missense_variant D931N 2791G>A UCEC-US 6 136944051 136944051 single base substitution G A intron_variant UCEC-US 6 136944051 136944051 single base substitution G A synonymous_variant Y695Y 2085C>T UCEC-US 6 136958468 136958468 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 6 136958468 136958468 single base substitution G A synonymous_variant L671L 2011C>T UCEC-US 6 136960756 136960756 single base substitution C A 5_prime_UTR_variant UCEC-US 6 136960756 136960756 single base substitution C A missense_variant R620I 1859G>T UCEC-US 6 136972137 136972137 single base substitution C T 5_prime_UTR_variant UCEC-US 6 136972137 136972137 single base substitution C T synonymous_variant V591V 1773G>A UCEC-US 6 136972140 136972140 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 6 136972140 136972140 single base substitution G A synonymous_variant H590H 1770C>T UCEC-US 6 136977446 136977446 single base substitution G A missense_variant P560L 1679C>T UCEC-US 6 136977446 136977446 single base substitution G A splice_region_variant UCEC-US 6 136977484 136977484 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 6 136977484 136977484 single base substitution G A synonymous_variant V547V 1641C>T UCEC-US 6 137015347 137015347 single base substitution C T missense_variant R395Q 1184G>A UCEC-US 6 137015401 137015401 single base substitution G A missense_variant P377L 1130C>T UCEC-US 6 137015428 137015428 single base substitution C A missense_variant R368I 1103G>T UCEC-US 6 137017134 137017134 single base substitution G T missense_variant A346D 1037C>A UCEC-US 6 137017156 137017161 deletion of <=200bp TTTCTA - stop_gained LEK337* UCEC-US 6 137018434 137018434 single base substitution G A missense_variant R300W 898C>T UCEC-US 6 137019666 137019666 single base substitution C T missense_variant R256H 767G>A UCEC-US 6 137041721 137041721 single base substitution G A missense_variant A152V 455C>T UCEC-US 6 137112939 137112939 single base substitution C T synonymous_variant A119A 357G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D3-A1Q6-06 COSM3620999 c.1972G>A p.G658R Substitution - Missense 6:136637369-136637369 - CHC1629T COSM4791910 c.612+1G>A p.? Unknown 6:136705109-136705109 - S02-15015-TP COSM3620993 c.2382C>T p.L794L Substitution - coding silent 6:136613153-136613153 - 1_RESISTANT COSM1719451 c.1446_1447GG>AA p.G483R Substitution - Missense 6:136659298-136659299 - YUSIV COSM5404444 c.1207G>A p.D403N Substitution - Missense 6:136694186-136694186 - CHC1629T COSM4791910 c.612+1G>A p.? Unknown 6:136705109-136705109 - TCGA-BR-8680-01 COSM3858525 c.2766T>C p.D922D Substitution - coding silent 6:136601893-136601893 - TCGA-EJ-7783-01 COSM1471914 c.1308G>T p.A436A Substitution - coding silent 6:136669341-136669341 - DM28 COSM5609306 c.3986G>A p.R1329Q Substitution - Missense 6:136561534-136561534 - 585258 COSM321573 c.2089G>A p.G697S Substitution - Missense 6:136622909-136622909 - SH-3133 COSM5019777 c.3071delA p.N1024fs*21 Deletion - Frameshift 6:136592327-136592327 - TCGA-EE-A3AG-06 COSM3621002 c.1452C>T p.A484A Substitution - coding silent 6:136659293-136659293 - SH-7282 COSM5019555 c.2964_2965insGAC p.D988_T989insD Insertion - In frame 6:136592528-136592529 - 587342 COSM1214437 c.736C>A p.L246I Substitution - Missense 6:136698559-136698559 - TCGA-EE-A29E-06 COSM3620989 c.3069G>A p.E1023E Substitution - coding silent 6:136592329-136592329 - 1_PRE-TREATMENT COSM1719451 c.1446_1447GG>AA p.G483R Substitution - Missense 6:136659298-136659299 - 587222 COSM1214435 c.3815G>A p.R1272Q Substitution - Missense 6:136562562-136562562 - B10-Tumor COSM254801 c.1744G>A p.E582K Substitution - Missense 6:136651028-136651028 - TCGA-29-2429-01 COSM1329295 c.629A>G p.Y210C Substitution - Missense 6:136698666-136698666 - H358 COSM1194146 c.2042G>T p.G681V Substitution - Missense 6:136622956-136622956 - TCGA-EE-A2MR-06 COSM3620994 c.2380C>T p.L794F Substitution - Missense 6:136613155-136613155 - 11M COSM1073745 c.1184G>A p.R395Q Substitution - Missense 6:136694209-136694209 - TCGA-B5-A11E-01 COSM1073749 c.1103G>T p.R368I Substitution - Missense 6:136694290-136694290 - TCGA-Q1-A73O-01 COSM4836052 c.2430G>C p.L810F Substitution - Missense 6:136611373-136611373 - TCGA-DM-A285-01 COSM1440671 c.3171C>T p.I1057I Substitution - coding silent 6:136592227-136592227 - TCGA-DC-6681-01 COSM3749950 c.159C>T p.S53S Substitution - coding silent 6:136791999-136791999 - TCGA-DR-A0ZM-01 COSM461896 c.2293C>T p.L765F Substitution - Missense 6:136613242-136613242 - TCGA-EE-A2MI-06 COSM3620987 c.3737G>A p.G1246E Substitution - Missense 6:136567655-136567655 - L04 COSM5368648 c.3269T>C p.L1090P Substitution - Missense 6:136583697-136583697 - TCGA-GI-A2C9-01 COSM3829135 c.850C>G p.R284G Substitution - Missense 6:136697344-136697344 - TCGA-AC-A23H-01 COSM1698060 c.3427C>T p.R1143W Substitution - Missense 6:136580391-136580391 - TCGA-BP-4341-01 COSM3366306 c.326A>T p.E109V Substitution - Missense 6:136791832-136791832 - S02285 COSM5684920 c.119A>G p.E40G Substitution - Missense 6:136792039-136792039 - TCGA-BK-A0C9-01 COSM1073759 c.510G>A p.G170G Substitution - coding silent 6:136720528-136720528 - CH-54-T2 COSM5650990 c.778C>T p.L260F Substitution - Missense 6:136698517-136698517 - RKO COSM3015447 c.2574C>T p.Y858Y Substitution - coding silent 6:136605314-136605314 - TCGA-29-2432-01 COSM1329297 c.2365G>T p.E789* Substitution - Nonsense 6:136613170-136613170 - TCGA-D1-A177-01 COSM1073729 c.2011C>T p.L671L Substitution - coding silent 6:136637330-136637330 - TCGA-EI-6882-01 COSM3430046 c.3217T>A p.L1073I Substitution - Missense 6:136592181-136592181 - SNUH_G73_S1 COSM4415251 c.3321C>T p.A1107A Substitution - coding silent 6:136583645-136583645 - B10 COSM254801 c.1744G>A p.E582K Substitution - Missense 6:136651028-136651028 - LIM1215 COSM4350260 c.1352A>G p.E451G Substitution - Missense 6:136669297-136669297 - TCGA-AC-A2B8-01 COSM450574 c.1276G>A p.E426K Substitution - Missense 6:136669373-136669373 - TCGA-CM-5864-01 COSM3749950 c.159C>T p.S53S Substitution - coding silent 6:136791999-136791999 - LN18 COSM3015457 c.2129A>G p.E710G Substitution - Missense 6:136622869-136622869 - TCGA-DK-A1AC-01 COSM1311595 c.1030G>C p.D344H Substitution - Missense 6:136696003-136696003 - RK308_C01 COSM3744937 c.1002A>G p.V334V Substitution - coding silent 6:136696031-136696031 - TCGA-DD-A3A0-01 COSM4934704 c.2172A>G p.E724E Substitution - coding silent 6:136614265-136614265 - TCGA-G4-6302-01 COSM3749950 c.159C>T p.S53S Substitution - coding silent 6:136791999-136791999 - TCGA-AN-A046-01 COSM1073723 c.3040C>T p.R1014W Substitution - Missense 6:136592453-136592453 - TCGA-AP-A056-01 COSM1073755 c.898C>T p.R300W Substitution - Missense 6:136697296-136697296 - TCGA-AZ-4315-01 COSM1440676 c.2393A>G p.Q798R Substitution - Missense 6:136613142-136613142 - TCGA-BF-A1PZ-01 COSM4399377 c.2128G>A p.E710K Substitution - Missense 6:136622870-136622870 - DM6 COSM5609314 c.2635C>T p.P879S Substitution - Missense 6:136605253-136605253 - TCGA-AP-A0LM-01 COSM1073703 c.3479G>A p.R1160Q Substitution - Missense 6:136580339-136580339 - SH-7329 COSM450573 c.1557A>G p.L519L Substitution - coding silent 6:136656430-136656430 - YUCHIME COSM1698062 c.1681G>A p.V561I Substitution - Missense 6:136651091-136651091 - CCK81 COSM3015423 c.3667G>A p.V1223M Substitution - Missense 6:136567725-136567725 - TCGA-EE-A3J5-06 COSM108960 c.766C>T p.R256C Substitution - Missense 6:136698529-136698529 - TCGA-CZ-5453-01 COSM483455 c.1908T>C p.Y636Y Substitution - coding silent 6:136639569-136639569 - CSCC-37-T COSM4496485 c.476C>T p.A159V Substitution - Missense 6:136720562-136720562 - PT44 COSM5926553 c.1487A>T p.Q496L Substitution - Missense 6:136659258-136659258 - D38 COSM5546410 c.3514C>T p.P1172S Substitution - Missense 6:136580304-136580304 - TCGA-IR-A3LA-01 COSM4844700 c.2299C>T p.R767C Substitution - Missense 6:136613236-136613236 - TCGA-66-2800-01 COSM739950 c.2564C>G p.P855R Substitution - Missense 6:136605324-136605324 - CCK81 COSM3015453 c.2399T>C p.V800A Substitution - Missense 6:136613136-136613136 - S12-23181-TP COSM4992434 c.790G>T p.A264S Substitution - Missense 6:136698505-136698505 - S00050 COSM317610 c.482G>C p.R161P Substitution - Missense 6:136720556-136720556 - TCGA-CJ-4878-01 COSM3366305 c.4011A>G p.L1337L Substitution - coding silent 6:136558853-136558853 - TCGA-AK-3458-01 COSM483451 c.3927A>G p.E1309E Substitution - coding silent 6:136561593-136561593 - B10 COSM254801 c.1744G>A p.E582K Substitution - Missense 6:136651028-136651028 - 02-P170 COSM4586252 c.864T>A p.T288T Substitution - coding silent 6:136697330-136697330 - TCGA-BS-A0UV-01 COSM1073721 c.3112G>T p.D1038Y Substitution - Missense 6:136592286-136592286 - TCGA-CS-5396-01 COSM3928110 c.2177T>C p.I726T Substitution - Missense 6:136614260-136614260 - TCGA-AP-A056-01 COSM1073761 c.455C>T p.A152V Substitution - Missense 6:136720583-136720583 - AOCS-079-1-1 COSM4139121 c.2903C>T p.P968L Substitution - Missense 6:136592590-136592590 - TCGA-09-1665-01 COSM78049 c.2500C>T p.P834S Substitution - Missense 6:136611303-136611303 - TCGA-G9-6498-01 COSM3783938 c.3171C>A p.I1057I Substitution - coding silent 6:136592227-136592227 - TCGA-A7-A3J1-01 COSM3829136 c.785A>T p.K262M Substitution - Missense 6:136698510-136698510 - TCGA-BT-A3PJ-01 COSM3777139 c.831C>G p.L277L Substitution - coding silent 6:136697363-136697363 - PT52 COSM5939553 c.2717C>T p.S906F Substitution - Missense 6:136601942-136601942 - H650 COSM1194345 c.1312C>T p.L438F Substitution - Missense 6:136669337-136669337 - TCGA-GF-A6C9-06 COSM3621005 c.589G>A p.E197K Substitution - Missense 6:136705133-136705133 - S02065 COSM5672905 c.1724delT p.L575fs*38 Deletion - Frameshift 6:136651048-136651048 - LUAD-S01315 COSM345806 c.1222G>T p.D408Y Substitution - Missense 6:136694171-136694171 - DM42 COSM5609309 c.2181A>G p.A727A Substitution - coding silent 6:136614256-136614256 - TCGA-42-2591-01 COSM1329296 c.749G>A p.C250Y Substitution - Missense 6:136698546-136698546 - SJRHB011_D COSM3737247 c.2521+9T>C p.? Unknown 6:136611273-136611273 - TCGA-GN-A266-06 COSM3621003 c.1440T>A p.F480L Substitution - Missense 6:136659305-136659305 - ZZUFHECRKL-G008T COSM5437370 c.2415+1G>T p.? Unknown 6:136613119-136613119 - T578 COSM4700362 c.871G>T p.E291* Substitution - Nonsense 6:136697323-136697323 - TCGA-D1-A17Q-01 COSM1073723 c.3040C>T p.R1014W Substitution - Missense 6:136592453-136592453 - TCGA-EE-A2A2-06 COSM3620990 c.3021A>T p.E1007D Substitution - Missense 6:136592472-136592472 - SH-1679 COSM5019555 c.2964_2965insGAC p.D988_T989insD Insertion - In frame 6:136592528-136592529 - TCGA-AU-6004-01 COSM1440681 c.875T>C p.L292S Substitution - Missense 6:136697319-136697319 - TCGA-EE-A3AA-06 COSM3620986 c.3744G>A p.M1248I Substitution - Missense 6:136567648-136567648 - PD22357a COSM5784077 c.2822C>G p.S941* Substitution - Nonsense 6:136601837-136601837 - LUAD-CHTN-MAD06-00668 COSM391359 c.1573delG p.V525fs*1 Deletion - Frameshift 6:136656414-136656414 - TCGA-BR-7707-01 COSM3858523 c.3486G>A p.A1162A Substitution - coding silent 6:136580332-136580332 - MCF7 COSM1683633 c.2960_2961insCGA p.D988_T989insD Insertion - In frame 6:136592532-136592533 - TCGA-AP-A056-01 COSM1073743 c.1641C>T p.V547V Substitution - coding silent 6:136656346-136656346 - KPOPBR-13-T COSM5963562 c.3920A>C p.N1307T Substitution - Missense 6:136561600-136561600 - LUAD-RT-S01831 COSM384493 c.2957C>T p.S986L Substitution - Missense 6:136592536-136592536 - CHC205T COSM4407091 c.594A>C p.I198I Substitution - coding silent 6:136705128-136705128 - TCGA-KK-A59V-01 COSM4878823 c.3176C>T p.T1059M Substitution - Missense 6:136592222-136592222 - SJRHB011 COSM3737247 c.2521+9T>C p.? Unknown 6:136611273-136611273 - TCGA-AF-6136-01 COSM3749950 c.159C>T p.S53S Substitution - coding silent 6:136791999-136791999 - TCGA-GM-A2DK-01 COSM5232825 c.3331_3332delTC p.S1111fs*14 Deletion - Frameshift 6:136583634-136583635 - TCGA-D8-A27V-01 COSM3829133 c.3466G>C p.D1156H Substitution - Missense 6:136580352-136580352 - TCGA-CD-A4MG-01 COSM3015431 c.3239C>T p.P1080L Substitution - Missense 6:136583727-136583727 - 2474086 COSM4399377 c.2128G>A p.E710K Substitution - Missense 6:136622870-136622870 - TCGA-A6-5661-01 COSM1440669 c.3229delG p.A1077fs*6 Deletion - Frameshift 6:136583737-136583737 - TCGA-A6-6653-01 COSM1440680 c.1144G>A p.E382K Substitution - Missense 6:136694249-136694249 - DM43 COSM5609311 c.1789-1G>A p.? Unknown 6:136642570-136642570 - TCGA-AP-A056-01 COSM1073707 c.3286G>T p.E1096* Substitution - Nonsense 6:136583680-136583680 - TCGA-G4-6628-01 COSM1440670 c.3196G>A p.V1066M Substitution - Missense 6:136592202-136592202 - TCGA-CG-5726-01 COSM3858526 c.2664A>G p.Q888Q Substitution - coding silent 6:136605224-136605224 - 1T COSM110247 c.2975A>T p.K992I Substitution - Missense 6:136592518-136592518 - TCGA-60-2724-01 COSM739951 c.2736G>A p.K912K Substitution - coding silent 6:136601923-136601923 - BD72T COSM5512317 c.2404C>T p.R802W Substitution - Missense 6:136613131-136613131 - CSCC-55-T COSM4455531 c.809A>T p.Q270L Substitution - Missense 6:136697385-136697385 - TCGA-AU-6004-01 COSM3749950 c.159C>T p.S53S Substitution - coding silent 6:136791999-136791999 - TCGA-AX-A0J0-01 COSM1073727 c.2085C>T p.Y695Y Substitution - coding silent 6:136622913-136622913 - TCGA-AC-A2FO-01 COSM3829137 c.726C>T p.F242F Substitution - coding silent 6:136698569-136698569 - PD4264a COSM5802270 c.3412-5_3488del82 p.? Unknown 6:136580330-136580411 - BZ06 COSM3366305 c.4011A>G p.L1337L Substitution - coding silent 6:136558853-136558853 - GBM_IV-20 COSM4967067 c.3691T>A p.S1231T Substitution - Missense 6:136567701-136567701 - PD11772a COSM5024883 c.59G>A p.G20D Substitution - Missense 6:136792099-136792099 - CLL149 COSM1292206 c.3090T>A p.A1030A Substitution - coding silent 6:136592308-136592308 - TCGA-AA-3712-01 COSM3749950 c.159C>T p.S53S Substitution - coding silent 6:136791999-136791999 - SC_9022 COSM5571204 c.940G>T p.V314F Substitution - Missense 6:136697254-136697254 - S02353 COSM3734872 c.113T>G p.V38G Substitution - Missense 6:136792045-136792045 - DM43 COSM5609310 c.3034G>A p.G1012R Substitution - Missense 6:136592459-136592459 - T3152 COSM4700359 c.2577A>G p.G859G Substitution - coding silent 6:136605311-136605311 - I2L-P19Tb-Tumor-Organoid COSM5357438 c.650T>C p.I217T Substitution - Missense 6:136698645-136698645 - 112158 COSM94666 c.325G>A p.E109K Substitution - Missense 6:136791833-136791833 - OSCC-GB_00120111 COSM3715320 c.2599C>G p.L867V Substitution - Missense 6:136605289-136605289 - YURUS COSM1698061 c.1963G>A p.E655K Substitution - Missense 6:136637378-136637378 - I2L-P11-Tumor-Biopsy COSM5357161 c.313C>A p.L105M Substitution - Missense 6:136791845-136791845 - SH-2871 COSM5019665 c.3941C>T p.T1314I Substitution - Missense 6:136561579-136561579 - DM101 COSM3015424 c.3598G>A p.E1200K Substitution - Missense 6:136567794-136567794 - S12-17796-TP COSM4992432 c.1971G>A p.K657K Substitution - coding silent 6:136637370-136637370 - TCGA-GF-A6C9-06 COSM4900805 c.918C>T p.I306I Substitution - coding silent 6:136697276-136697276 - TCGA-FR-A44A-06 COSM1440671 c.3171C>T p.I1057I Substitution - coding silent 6:136592227-136592227 - PD13298a COSM5776634 c.3079G>T p.D1027Y Substitution - Missense 6:136592319-136592319 - LUAD-CHTN-4090680 COSM357771 c.1731C>T p.I577I Substitution - coding silent 6:136651041-136651041 - S00841 COSM317611 c.899G>T p.R300L Substitution - Missense 6:136697295-136697295 - 2521243 COSM5886480 c.3082C>T p.H1028Y Substitution - Missense 6:136592316-136592316 - PTC-10C COSM3749950 c.159C>T p.S53S Substitution - coding silent 6:136791999-136791999 - TCGA-BR-8680-01 COSM1073709 c.3240G>A p.P1080P Substitution - coding silent 6:136583726-136583726 - TCGA-BS-A0UV-01 COSM1073705 c.3428G>A p.R1143Q Substitution - Missense 6:136580390-136580390 - PT37 COSM5919018 c.2272C>T p.P758S Substitution - Missense 6:136614165-136614165 - TCGA-FS-A4F5-06 COSM108960 c.766C>T p.R256C Substitution - Missense 6:136698529-136698529 - 3N43-VS-3T43 COSM4982089 c.3985C>T p.R1329W Substitution - Missense 6:136561535-136561535 - DM51 COSM5609312 c.3957G>A p.V1319V Substitution - coding silent 6:136561563-136561563 - TCGA-EE-A29E-06 COSM3620988 c.3453G>A p.W1151* Substitution - Nonsense 6:136580365-136580365 - TCGA-FS-A1Z3-06 COSM3621005 c.589G>A p.E197K Substitution - Missense 6:136705133-136705133 - PD5932a COSM5794987 c.613-8C>T p.? Unknown 6:136698690-136698690 - DM17 COSM5609303 c.2106C>T p.N702N Substitution - coding silent 6:136622892-136622892 - TCGA-AP-A05A-01 COSM1073737 c.1770C>T p.H590H Substitution - coding silent 6:136651002-136651002 - TCGA-AA-A010-01 COSM282653 c.1554T>G p.I518M Substitution - Missense 6:136656433-136656433 - TCGA-AZ-4315-01 COSM1440674 c.2618A>C p.E873A Substitution - Missense 6:136605270-136605270 - KPOPBR-04-T COSM5965834 c.760G>T p.V254L Substitution - Missense 6:136698535-136698535 - TCGA-FU-A3HZ-01 COSM4840453 c.553T>G p.C185G Substitution - Missense 6:136720485-136720485 - HCC2998 COSM1672795 c.3793G>T p.E1265* Substitution - Nonsense 6:136562584-136562584 - I2L-P11-Tumor-Organoid COSM5357161 c.313C>A p.L105M Substitution - Missense 6:136791845-136791845 - cSCCP8 COSM140571 c.3461C>A p.A1154D Substitution - Missense 6:136580357-136580357 - RK064_C01 COSM1634519 c.3988-5T>C p.? Unknown 6:136558881-136558881 - TCGA-EE-A2MJ-06 COSM108960 c.766C>T p.R256C Substitution - Missense 6:136698529-136698529 - 587278 COSM1214436 c.241G>A p.G81S Substitution - Missense 6:136791917-136791917 - Pat_11_A COSM3015438 c.2937_2939delCAG p.S980delS Deletion - In frame 6:136592554-136592556 - TCGA-GV-A3JZ-01 COSM1311594 c.3875-1G>A p.? Unknown 6:136561646-136561646 - SH-3776 COSM450573 c.1557A>G p.L519L Substitution - coding silent 6:136656430-136656430 - WA40 COSM237700 c.2862T>G p.L954L Substitution - coding silent 6:136601038-136601038 - TCGA-AY-6386-01 COSM3761494 c.48C>G p.F16L Substitution - Missense 6:136792110-136792110 - TCGA-AX-A063-01 COSM1073751 c.1037C>A p.A346D Substitution - Missense 6:136695996-136695996 - RKO COSM3015429 c.3378_3379insA p.V1127fs*14 Insertion - Frameshift 6:136583587-136583588 - HT115 COSM3015450 c.2505T>C p.C835C Substitution - coding silent 6:136611298-136611298 - PD24329a COSM3015430 c.3357C>T p.F1119F Substitution - coding silent 6:136583609-136583609 - TCGA-AP-A056-01 COSM1073747 c.1130C>T p.P377L Substitution - Missense 6:136694263-136694263 - TCGA-46-3769-01 COSM739954 c.3760A>T p.R1254* Substitution - Nonsense 6:136567632-136567632 - YUGATOR COSM5404445 c.259G>A p.G87S Substitution - Missense 6:136791899-136791899 - B59-1 COSM1754542 c.302G>A p.S101N Substitution - Missense 6:136791856-136791856 - TCGA-AN-A046-01 COSM3829132 c.3904A>C p.N1302H Substitution - Missense 6:136561616-136561616 - TCGA-A5-A0GJ-01 COSM1073715 c.3154G>A p.A1052T Substitution - Missense 6:136592244-136592244 - TCGA-66-2758-01 COSM739947 c.1314C>G p.L438L Substitution - coding silent 6:136669335-136669335 - SJACT008_D COSM4968126 c.3762-3C>T p.? Unknown 6:136562618-136562618 - S00841 COSM317611 c.899G>T p.R300L Substitution - Missense 6:136697295-136697295 - HCA46 COSM4629530 c.528C>T p.S176S Substitution - coding silent 6:136720510-136720510 - ESCC_BICR_040T COSM5430154 c.513G>A p.V171V Substitution - coding silent 6:136720525-136720525 - GHE0415 COSM5713641 c.448+1G>A p.? Unknown 6:136791709-136791709 - TCGA-DD-A39Z-01 COSM4915877 c.2416-2A>G p.? Unknown 6:136611389-136611389 - COLO-205 COSM1683633 c.2960_2961insCGA p.D988_T989insD Insertion - In frame 6:136592532-136592533 - TCGA-B0-4815-01 COSM483453 c.2457G>T p.K819N Substitution - Missense 6:136611346-136611346 - S43_post COSM3015437 c.2947G>A p.G983S Substitution - Missense 6:136592546-136592546 - TCGA-66-2759-01 COSM739948 c.2300G>A p.R767H Substitution - Missense 6:136613235-136613235 - TCGA-DI-A0WH-01 COSM1073701 c.3496G>A p.A1166T Substitution - Missense 6:136580322-136580322 - T2269 COSM4700360 c.2323G>T p.D775Y Substitution - Missense 6:136613212-136613212 - PTC-7C COSM3749950 c.159C>T p.S53S Substitution - coding silent 6:136791999-136791999 - TCGA-F4-6703-01 COSM3749950 c.159C>T p.S53S Substitution - coding silent 6:136791999-136791999 - TCGA-BR-4257-01 COSM3858528 c.891A>G p.A297A Substitution - coding silent 6:136697303-136697303 - 2318496 COSM4777307 c.599G>A p.C200Y Substitution - Missense 6:136705123-136705123 - TCGA-UB-A7MA-01 COSM4910025 c.472G>A p.D158N Substitution - Missense 6:136720566-136720566 - TCGA-BT-A20J-01 COSM421061 c.1668G>C p.V556V Substitution - coding silent 6:136656319-136656319 - TCGA-A6-6648-01 COSM1073705 c.3428G>A p.R1143Q Substitution - Missense 6:136580390-136580390 - BRC22 COSM5026637 c.1827C>T p.V609V Substitution - coding silent 6:136642531-136642531 - 24T COSM108960 c.766C>T p.R256C Substitution - Missense 6:136698529-136698529 - SH-8559 COSM5020779 c.2967G>A p.T989T Substitution - coding silent 6:136592526-136592526 - TCGA-EE-A29E-06 COSM3620992 c.2702C>T p.P901L Substitution - Missense 6:136601957-136601957 - TCGA-66-2785-01 COSM739953 c.3270C>G p.L1090L Substitution - coding silent 6:136583696-136583696 - TCGA-AP-A059-01 COSM1073697 c.3869C>T p.P1290L Substitution - Missense 6:136562508-136562508 - TCGA-A2-A0T5-01 COSM3829138 c.512T>G p.V171G Substitution - Missense 6:136720526-136720526 - S02256 COSM5701338 c.3518-2_3518-1insA p.? Unknown 6:136567875-136567876 - 12T COSM3715320 c.2599C>G p.L867V Substitution - Missense 6:136605289-136605289 - KPOPBR-04-T COSM5965899 c.2994C>A p.F998L Substitution - Missense 6:136592499-136592499 - TCGA-AP-A056-01 COSM1073725 c.2791G>A p.D931N Substitution - Missense 6:136601868-136601868 - ESCC_55 COSM5632043 c.1276G>C p.E426Q Substitution - Missense 6:136669373-136669373 - TCGA-CM-4746-01 COSM1440682 c.756T>A p.P252P Substitution - coding silent 6:136698539-136698539 - BD124T COSM5492139 c.3152G>A p.R1051Q Substitution - Missense 6:136592246-136592246 - TCGA-AN-A0AR-01 COSM450575 c.702G>C p.L234F Substitution - Missense 6:136698593-136698593 - CSCC-29-T COSM4468008 c.1520C>T p.P507L Substitution - Missense 6:136659225-136659225 - DM42 COSM5609308 c.1026C>T p.T342T Substitution - coding silent 6:136696007-136696007 - BK0098 COSM4189002 c.2005G>T p.D669Y Substitution - Missense 6:136637336-136637336 - CSCC-10-T COSM3015430 c.3357C>T p.F1119F Substitution - coding silent 6:136583609-136583609 - NCI-H322M COSM1672796 c.3719C>G p.S1240* Substitution - Nonsense 6:136567673-136567673 - TCGA-D3-A51R-06 COSM3621004 c.1221G>A p.T407T Substitution - coding silent 6:136694172-136694172 - sysucc-311T COSM1073695 c.4109G>A p.R1370Q Substitution - Missense 6:136557774-136557774 - TCGA-D3-A2JF-06 COSM3620995 c.2346T>A p.F782L Substitution - Missense 6:136613189-136613189 - CSCC-10-T COSM4566070 c.3011_3012CC>TT p.S1004F Substitution - Missense 6:136592481-136592482 - PD24225a COSM5784763 c.3429G>T p.R1143R Substitution - coding silent 6:136580389-136580389 - ATL016 COSM108960 c.766C>T p.R256C Substitution - Missense 6:136698529-136698529 - TCGA-RP-A695-06 COSM4896577 c.1417C>T p.Q473* Substitution - Nonsense 6:136659328-136659328 - TCGA-EK-A2R7-01 COSM421060 c.574C>G p.L192V Substitution - Missense 6:136720464-136720464 - KM12 COSM4612818 c.1443_1444insT p.L482fs*9 Insertion - Frameshift 6:136659301-136659302 - TCGA-D3-A51G-06 COSM3620991 c.2752T>G p.C918G Substitution - Missense 6:136601907-136601907 - TCGA-ES-A2HS-01 COSM4910293 c.3942C>A p.T1314T Substitution - coding silent 6:136561578-136561578 - pfg008T COSM1642875 c.3366T>C p.H1122H Substitution - coding silent 6:136583600-136583600 - D01 COSM5544014 c.3623G>A p.R1208Q Substitution - Missense 6:136567769-136567769 - ESO-536 COSM1257282 c.3949C>T p.L1317L Substitution - coding silent 6:136561571-136561571 - SH-8559 COSM5020783 c.3641T>C p.I1214T Substitution - Missense 6:136567751-136567751 - TCGA-ER-A19M-06 COSM3620984 c.4066G>A p.G1356R Substitution - Missense 6:136557817-136557817 - TCGA-BF-A1Q0-01 COSM3620997 c.2238G>A p.E746E Substitution - coding silent 6:136614199-136614199 - YURIF COSM1698064 c.736C>T p.L246F Substitution - Missense 6:136698559-136698559 - 73 COSM5014646 c.3274G>T p.A1092S Substitution - Missense 6:136583692-136583692 - PCSI_0325_Pa_P_526 COSM4809182 c.1131C>T p.P377P Substitution - coding silent 6:136694262-136694262 - TCGA-DA-A1HW-06 COSM3620993 c.2382C>T p.L794L Substitution - coding silent 6:136613153-136613153 - TCGA-AP-A051-01 COSM1073727 c.2085C>T p.Y695Y Substitution - coding silent 6:136622913-136622913 - S00050 COSM317610 c.482G>C p.R161P Substitution - Missense 6:136720556-136720556 - DM18 COSM1073737 c.1770C>T p.H590H Substitution - coding silent 6:136651002-136651002 - CSCC-49-T COSM4530800 c.172G>A p.E58K Substitution - Missense 6:136791986-136791986 - CSCC-46-T COSM4537415 c.2416G>A p.G806S Substitution - Missense 6:136611387-136611387 - TCGA-AX-A0J0-01 COSM1073721 c.3112G>T p.D1038Y Substitution - Missense 6:136592286-136592286 - TCGA-AP-A056-01 COSM1073723 c.3040C>T p.R1014W Substitution - Missense 6:136592453-136592453 - YULONE COSM3620987 c.3737G>A p.G1246E Substitution - Missense 6:136567655-136567655 - ME037T COSM227763 c.2878+1G>A p.? Unknown 6:136601021-136601021 - CHC433T COSM4407091 c.594A>C p.I198I Substitution - coding silent 6:136705128-136705128 - SNUH_G73_S1 COSM4415863 c.2352A>G p.T784T Substitution - coding silent 6:136613183-136613183 - ESO-721 COSM1257283 c.3518A>T p.E1173V Substitution - Missense 6:136567874-136567874 - SC_9081 COSM5571779 c.2052C>T p.V684V Substitution - coding silent 6:136622946-136622946 - HCC2998 COSM1672795 c.3793G>T p.E1265* Substitution - Nonsense 6:136562584-136562584 - 8067242 COSM4388706 c.211A>C p.T71P Substitution - Missense 6:136791947-136791947 - BD49T COSM5497857 c.2825G>A p.S942N Substitution - Missense 6:136601834-136601834 - 3N23-VS-3T23 COSM4979626 c.919G>C p.E307Q Substitution - Missense 6:136697275-136697275 - YUDAB COSM1698063 c.1408G>A p.E470K Substitution - Missense 6:136659337-136659337 - TCGA-BP-4974-01 COSM483456 c.1759T>G p.S587A Substitution - Missense 6:136651013-136651013 - T3090 COSM1440669 c.3229delG p.A1077fs*6 Deletion - Frameshift 6:136583737-136583737 - TCGA-B5-A0JY-01 COSM1073745 c.1184G>A p.R395Q Substitution - Missense 6:136694209-136694209 - 1353-01-01TD COSM5416661 c.1211_1212insT p.N405fs*1 Insertion - Frameshift 6:136694181-136694182 - SH-1641 COSM450573 c.1557A>G p.L519L Substitution - coding silent 6:136656430-136656430 - TCGA-AP-A056-01 COSM1073709 c.3240G>A p.P1080P Substitution - coding silent 6:136583726-136583726 - TCGA-BT-A20O-01 COSM421062 c.3323C>T p.T1108I Substitution - Missense 6:136583643-136583643 - SC_9096 COSM5572895 c.2946C>T p.Y982Y Substitution - coding silent 6:136592547-136592547 - 49M COSM5591787 c.1356C>T p.L452L Substitution - coding silent 6:136669293-136669293 - TCGA-AP-A056-01 COSM1073763 c.357G>A p.A119A Substitution - coding silent 6:136791801-136791801 - sysucc-311T COSM5466679 c.2772C>G p.D924E Substitution - Missense 6:136601887-136601887 - TCGA-Q1-A73O-01 COSM4834340 c.606G>C p.K202N Substitution - Missense 6:136705116-136705116 - TCGA-B5-A11E-01 COSM1073695 c.4109G>A p.R1370Q Substitution - Missense 6:136557774-136557774 - ESCC_BICR_017T COSM5442950 c.1644G>C p.E548D Substitution - Missense 6:136656343-136656343 - 2474085 COSM4399377 c.2128G>A p.E710K Substitution - Missense 6:136622870-136622870 - TCGA-EE-A29E-06 COSM3620985 c.3883G>A p.E1295K Substitution - Missense 6:136561637-136561637 - TCGA-C8-A1HO-01 COSM1487257 c.4071G>C p.G1357G Substitution - coding silent 6:136557812-136557812 - TCGA-B5-A11N-01 COSM1073699 c.3781C>T p.R1261W Substitution - Missense 6:136562596-136562596 - LUAD-B01970 COSM356201 c.3639C>T p.V1213V Substitution - coding silent 6:136567753-136567753 - 16 COSM3735740 c.640C>T p.P214S Substitution - Missense 6:136698655-136698655 - Case4 COSM1329296 c.749G>A p.C250Y Substitution - Missense 6:136698546-136698546 - YUGATOR COSM5404446 c.258G>A p.G86G Substitution - coding silent 6:136791900-136791900 - ME009T COSM223124 c.959C>A p.S320Y Substitution - Missense 6:136697235-136697235 - TCGA-CJ-5672-01 COSM483452 c.2762C>G p.P921R Substitution - Missense 6:136601897-136601897 - 6 COSM3734872 c.113T>G p.V38G Substitution - Missense 6:136792045-136792045 - T2269 COSM4700361 c.1340A>C p.E447A Substitution - Missense 6:136669309-136669309 - TCGA-AZ-4315-01 COSM1440672 c.2815A>C p.K939Q Substitution - Missense 6:136601844-136601844 - TCGA-AY-6197-01 COSM1440679 c.1262delA p.K421fs*37 Deletion - Frameshift 6:136669387-136669387 - TCGA-BF-A3DM-01 COSM3920785 c.3308G>A p.R1103Q Substitution - Missense 6:136583658-136583658 - SNU-175 COSM3015427 c.3479G>T p.R1160L Substitution - Missense 6:136580339-136580339 - TCGA-EE-A3JD-06 COSM4397354 c.462G>A p.V154V Substitution - coding silent 6:136720576-136720576 - TCGA-EE-A2MD-06 COSM3621001 c.1533C>T p.L511L Substitution - coding silent 6:136656454-136656454 - TCGA-EI-6917-01 COSM1073695 c.4109G>A p.R1370Q Substitution - Missense 6:136557774-136557774 - DM51 COSM108960 c.766C>T p.R256C Substitution - Missense 6:136698529-136698529 - CSCC-27-T COSM4492256 c.3942C>T p.T1314T Substitution - coding silent 6:136561578-136561578 - TCGA-CJ-5672-01 COSM483454 c.2414A>G p.K805R Substitution - Missense 6:136613121-136613121 - TCGA-DD-A11A-01 COSM4940386 c.3027T>C p.D1009D Substitution - coding silent 6:136592466-136592466 - SH-5693 COSM450573 c.1557A>G p.L519L Substitution - coding silent 6:136656430-136656430 - 79 COSM5016162 c.2505_2509delTACTG p.C835fs*1 Deletion - Frameshift 6:136611294-136611298 - DM16 COSM5609302 c.3048C>T p.L1016L Substitution - coding silent 6:136592445-136592445 - TCGA-BS-A0TJ-01 COSM1073735 c.1773G>A p.V591V Substitution - coding silent 6:136650999-136650999 - T2957 COSM739948 c.2300G>A p.R767H Substitution - Missense 6:136613235-136613235 - ESCC_BICR_066T COSM5444684 c.2438C>T p.T813I Substitution - Missense 6:136611365-136611365 - TCGA-BS-A0UF-01 COSM1073711 c.3215C>T p.S1072F Substitution - Missense 6:136592183-136592183 - SH-0348 COSM450573 c.1557A>G p.L519L Substitution - coding silent 6:136656430-136656430 - TCGA-34-5234-01 COSM739952 c.3043A>G p.T1015A Substitution - Missense 6:136592450-136592450 - ESCC_74 COSM5634803 c.3550A>G p.S1184G Substitution - Missense 6:136567842-136567842 - TCGA-ER-A193-06 COSM3620998 c.2107C>T p.Q703* Substitution - Nonsense 6:136622891-136622891 - TCGA-13-1498-01 COSM69370 c.806+1G>C p.? Unknown 6:136698488-136698488 - TCGA-IR-A3LH-01 COSM4833068 c.2742C>G p.F914L Substitution - Missense 6:136601917-136601917 - Z138 COSM1741147 c.2959_2960insAGA p.P987>QT Complex - insertion inframe 6:136592533-136592534 - L25 COSM5369674 c.1788+2T>C p.? Unknown 6:136650982-136650982 - TCGA-32-2495-01 COSM3410612 c.539A>G p.N180S Substitution - Missense 6:136720499-136720499 - S02290 COSM5686770 c.1263G>T p.K421N Substitution - Missense 6:136669386-136669386 - TCGA-D8-A1JA-01 COSM3829134 c.2392C>T p.Q798* Substitution - Nonsense 6:136613143-136613143 - TCGA-AX-A05Z-01 COSM1073757 c.767G>A p.R256H Substitution - Missense 6:136698528-136698528 - pfg068T COSM4761783 c.1324G>A p.A442T Substitution - Missense 6:136669325-136669325 - TCGA-AG-4022-01 COSM3749950 c.159C>T p.S53S Substitution - coding silent 6:136791999-136791999 - TCGA-B5-A0K2-01 COSM1073741 c.1666G>A p.V556M Substitution - Missense 6:136656321-136656321 - TCGA-BR-8680-01 COSM3858522 c.3593A>G p.H1198R Substitution - Missense 6:136567799-136567799 - SJRHB011_E COSM3737247 c.2521+9T>C p.? Unknown 6:136611273-136611273 - CCK81 COSM3015451 c.2495T>C p.I832T Substitution - Missense 6:136611308-136611308 - TCGA-AH-6544-01 COSM1568059 c.4107T>G p.F1369L Substitution - Missense 6:136557776-136557776 - TCGA-AP-A059-01 COSM1073739 c.1679C>T p.P560L Substitution - Missense 6:136656308-136656308 - TCGA-BH-A0DZ-01 COSM450574 c.1276G>A p.E426K Substitution - Missense 6:136669373-136669373 - DM55 COSM5609313 c.2597C>T p.S866F Substitution - Missense 6:136605291-136605291 - TCGA-AP-A0LT-01 COSM1073713 c.3177G>A p.T1059T Substitution - coding silent 6:136592221-136592221 - 587224 COSM1073695 c.4109G>A p.R1370Q Substitution - Missense 6:136557774-136557774 - TCGA-AX-A05Z-01 COSM1073719 c.3116C>A p.S1039Y Substitution - Missense 6:136592282-136592282 - ESCC_65 COSM5633623 c.1478G>A p.R493K Substitution - Missense 6:136659267-136659267 - QC2-07-T2 COSM5652032 c.3895T>C p.F1299L Substitution - Missense 6:136561625-136561625 - 529 COSM5612264 c.1471C>A p.H491N Substitution - Missense 6:136659274-136659274 - TCGA-E1-5304-01 COSM3928109 c.2431A>G p.I811V Substitution - Missense 6:136611372-136611372 - D-11 COSM4766740 c.2435A>T p.N812I Substitution - Missense 6:136611368-136611368 - YURUS COSM1698060 c.3427C>T p.R1143W Substitution - Missense 6:136580391-136580391 - TCGA-DK-A1A5-01 COSM421060 c.574C>G p.L192V Substitution - Missense 6:136720464-136720464 - CSCC-31-T COSM4540626 c.2870G>A p.G957E Substitution - Missense 6:136601030-136601030 - 385 COSM4427027 c.35C>G p.S12C Substitution - Missense 6:136792123-136792123 - TCGA-BS-A0UT-01 COSM1073753 c.1010_1015delTAGAAA p.L337_K339>* Complex - deletion inframe 6:136696018-136696023 - S00-35182-TP COSM4992433 c.1899C>T p.F633F Substitution - coding silent 6:136639578-136639578 - TCGA-BR-4361-01 COSM3858527 c.1595C>T p.P532L Substitution - Missense 6:136656392-136656392 - TCGA-B5-A0JY-01 COSM1073731 c.1859G>T p.R620I Substitution - Missense 6:136639618-136639618 - TCGA-D3-A51J-06 COSM3620996 c.2320A>C p.K774Q Substitution - Missense 6:136613215-136613215 - TCGA-AF-2693-01 COSM3749950 c.159C>T p.S53S Substitution - coding silent 6:136791999-136791999 - TCGA-CG-5728-01 COSM3858524 c.2944T>C p.Y982H Substitution - Missense 6:136592549-136592549 - CSCC-49-T COSM4491878 c.3880C>T p.P1294S Substitution - Missense 6:136561640-136561640 - DM93 COSM5609315 c.1218C>T p.F406F Substitution - coding silent 6:136694175-136694175 - DM26 COSM5609304 c.3867A>G p.Q1289Q Substitution - coding silent 6:136562510-136562510 - I2L-P19Tb-Tumor-Biopsy COSM5357438 c.650T>C p.I217T Substitution - Missense 6:136698645-136698645 - TCGA-ER-A2NH-06 COSM3620987 c.3737G>A p.G1246E Substitution - Missense 6:136567655-136567655 - TCGA-FU-A3HY-01 COSM4838662 c.1889C>T p.S630F Substitution - Missense 6:136639588-136639588 - 1N29-VS-1T29 COSM4973928 c.918C>G p.I306M Substitution - Missense 6:136697276-136697276 - TCGA-AP-A059-01 COSM1073717 c.3124T>G p.F1042V Substitution - Missense 6:136592274-136592274 - PD13799a COSM5025013 c.671A>G p.Y224C Substitution - Missense 6:136698624-136698624 - DM29 COSM5609307 c.720G>A p.P240P Substitution - coding silent 6:136698575-136698575 - Pat_41_B COSM5869386 c.2273C>T p.P758L Substitution - Missense 6:136614164-136614164 - TCGA-D5-6540-01 COSM1440673 c.2718C>T p.S906S Substitution - coding silent 6:136601941-136601941 - RK190_C01 COSM3744938 c.480C>A p.F160L Substitution - Missense 6:136720558-136720558 - ESO-859 COSM1239396 c.3411+2T>C p.? Unknown 6:136583553-136583553 - ASHPC_0016_Pa_P COSM3781977 c.3507C>A p.I1169I Substitution - coding silent 6:136580311-136580311 - DM26 COSM5609305 c.2368G>T p.G790* Substitution - Nonsense 6:136613167-136613167 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.186379;Hs.186385;Hs.186396;Hs.186403;Hs.186424;Hs.186486 6q22.33 602448

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S587A c.1759T>G 6 136972151 RCCC A G IntronicSNV . c.448+9653T>C 6 137103195 CLL A G IntronicSNV . c.589-6107T>C 6 137032378 CLL A G Missense p.I324T c.971T>C 6 137018361 LUAD A G Missense p.I726T c.2177T>C 6 136935398 LGG A G Missense p.L438P c.1313T>C 6 136990474 HNSC A G Missense p.Y982H c.2944T>C 6 136913687 STAD A G SpliceDonorSNV . c.3411+2T>C 6 136904691 ESCA A G Synonymous p.H1122H c.3366T>C 6 136904738 STAD - A Nonsense p.N405*fs*1 c.1212dupT 6 137015319 RCCC A T Missense p.F782L c.2346T>A 6 136934327 CM A T Missense p.V899D c.2696T>A 6 136923101 CM A T Synonymous p.A1030A c.3090T>A 6 136913446 CLL - CAAAA IntronicInsertion . c.448+25064_448+25065insTTTGT 6 137087784 CLL C A Missense p.A178S c.532G>T 6 137041644 LUAD C A Missense p.K819N c.2457G>T 6 136932484 RCCC C A Missense p.R300L c.899G>T 6 137018433 SCLC C A Missense p.S977I c.2930G>T 6 136913701 LUAD C A Synonymous p.A436A c.1308G>T 6 136990479 PRAD C A Synonymous p.L884L c.2652G>T 6 136926374 LUAD C G Missense p.L234F c.702G>C 6 137019731 BRCA C G Missense p.R161P c.482G>C 6 137041694 SCLC C G Missense p.S977T c.2930G>C 6 136913701 HNSC C G SpliceDonorSNV . c.806+1G>C 6 137019626 OV C G Synonymous p.G1357G c.4071G>C 6 136878950 BRCA C G Synonymous p.G483G c.1449G>C 6 136980434 MM C G Synonymous p.V556V c.1668G>C 6 136977457 BLCA C T IntronicSNV . c.589-4746G>A 6 137031017 CLL C T Missense p.A1052T c.3154G>A 6 136913382 UCEC C T Missense p.E1078K c.3232G>A 6 136904872 LUAD C T Missense p.E197K c.589G>A 6 137026271 CM C T Missense p.E582K c.1744G>A 6 136972166 CLL C T Missense p.E710K c.2128G>A 6 136944008 CM C T Missense p.G1246E c.3737G>A 6 136888793 CM C T Missense p.G658R c.1972G>A 6 136958507 CM C T Missense p.G697S c.2089G>A 6 136944047 SCLC C T Missense p.R1103Q c.3308G>A 6 136904796 CM C T Missense p.R767H c.2300G>A 6 136934373 LUSC C T Missense p.S381N c.1142G>A 6 137015389 HNSC C T SpliceAcceptorSNV . c.3875-1G>A 6 136882784 BLCA C T Synonymous p.E746E c.2238G>A 6 136935337 CM C T Synonymous p.K912K c.2736G>A 6 136923061 LUSC C T Synonymous p.Q1075Q c.3225G>A 6 136913311 CM C T Synonymous p.T1059T c.3177G>A 6 136913359 UCEC C T Synonymous p.V154V c.462G>A 6 137041714 CM C T Synonymous p.V591V c.1773G>A 6 136972137 UCEC G A IntronicSNV . c.2878+1154C>T 6 136921006 PIA G A Missense p.H131Y c.391C>T 6 137112905 LUAD G A Missense p.P240S c.718C>T 6 137019715 CM G A Missense p.P834S c.2500C>T 6 136932441 OV G A Missense p.R1014W c.3040C>T 6 136913591 CM G A Missense p.R256C c.766C>T 6 137019667 CM G A Missense p.S941L c.2822C>T 6 136922975 CM G A Missense p.T1108I c.3323C>T 6 136904781 BLCA G A Missense p.T690I c.2069C>T 6 136944067 CM G A Nonsense p.Q445* c.1333C>T 6 136990454 HNSC G A Nonsense p.Q703* c.2107C>T 6 136944029 CM G A Synonymous p.A484A c.1452C>T 6 136980431 CM G A Synonymous p.F1178F c.3534C>T 6 136888996 HNSC G A Synonymous p.H590H c.1770C>T 6 136972140 UCEC G A Synonymous p.I249I c.747C>T 6 137019686 HNSC G A Synonymous p.I711I c.2133C>T 6 136944003 CM G A Synonymous p.I903I c.2709C>T 6 136923088 CM G A Synonymous p.L1317L c.3949C>T 6 136882709 ESCA G A Synonymous p.L511L c.1533C>T 6 136977592 CM G A Synonymous p.L671L c.2011C>T 6 136958468 UCEC G A Synonymous p.L794L c.2382C>T 6 136934291 CM G A Synonymous p.S1004S c.3012C>T 6 136913619 CM G A Synonymous p.V609V c.1827C>T 6 136963669 BRCA G C Missense p.L192V c.574C>G 6 137041602 BLCA G C Missense p.P855R c.2564C>G 6 136926462 LUSC G C Missense p.P921R c.2762C>G 6 136923035 RCCC G C Missense p.S607C c.1820C>G 6 136963676 LUAD G C Synonymous p.L277L c.831C>G 6 137018501 BLCA G C Synonymous p.L438L c.1314C>G 6 136990473 LUSC G T Missense p.A346D c.1037C>A 6 137017134 UCEC G T Missense p.Q720K c.2158C>A 6 136935417 CM G T Missense p.S320Y c.959C>A 6 137018373 CM G T Synonymous p.I1057I c.3171C>A 6 136913365 PRAD T A Missense p.E1007D c.3021A>T 6 136913610 CM T A Missense p.E109V c.326A>T 6 137112970 RCCC T A Missense p.E1173V c.3518A>T 6 136889012 ESCA T A Missense p.I181F c.541A>T 6 137041635 LUAD T A Missense p.Q325L c.974A>T 6 137018358 LUAD T A Nonsense p.R1254* c.3760A>T 6 136888770 LUSC T A Synonymous p.P1172P c.3516A>T 6 136901440 CM T C Missense p.I811V c.2431A>G 6 136932510 LGG T C Missense p.N180S c.539A>G 6 137041637 GBM T C Missense p.T1015A c.3043A>G 6 136913588 LUSC T C Synonymous p.A297A c.891A>G 6 137018441 STAD T C Synonymous p.L1337L c.4011A>G 6 136879991 RCCC T C Synonymous p.Q536Q c.1608A>G 6 136977517 HNSC T C Synonymous p.Q888Q c.2664A>G 6 136926362 STAD T - Frameshift p.N285Ifs*19 c.854delA 6 137018478 CM - T IntronicInsertion . c.1527-164dupA 6 136977762 CM TTTATT - IntronicDeletion . c.448+34129_448+34134delAATAAA 6 137078714 CLL TTTCTA - MultiAAMissense p.L337_K339delins* c.1010_1015delTAGAAA 6 137017156 UCEC