Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 3 8983425 8983425 + Missense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr3:8983425C>A c.330G>T c.(328-330)aaG>aaT p.K110N BLCA 3 8988964 8988964 + Missense_Mutation SNP T T C TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 g.chr3:8988964T>C c.206A>G c.(205-207)gAg>gGg p.E69G BRCA 3 8923136 8923136 + Missense_Mutation SNP G G T TCGA-D8-A27V-01A-12D-A17D-09 TCGA-D8-A27V-10A-01D-A17D-09 g.chr3:8923136G>T c.1393C>A c.(1393-1395)Ctt>Att p.L465I BRCA 3 8932110 8932110 + Missense_Mutation SNP G G A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 g.chr3:8932110G>A c.1348C>T c.(1348-1350)Ctt>Ttt p.L450F BRCA 3 8954040 8954040 + Frame_Shift_Del DEL T T - TCGA-C8-A1HJ-01A-11D-A13L-09 TCGA-C8-A1HJ-10A-01D-A13O-09 g.chr3:8954040delT c.983delA c.(982-984)aagfs p.K328fs BRCA 3 8955390 8955390 + Nonsense_Mutation SNP G G A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr3:8955390G>A c.904C>T c.(904-906)Cga>Tga p.R302* BRCA 3 8983486 8983486 + Missense_Mutation SNP T T A TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 g.chr3:8983486T>A c.269A>T c.(268-270)aAt>aTt p.N90I COAD 3 8923062 8923062 + Silent SNP T T C TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr3:8923062T>C c.1467A>G c.(1465-1467)agA>agG p.R489R COAD 3 8923063 8923063 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr3:8923063C>T c.1466G>A c.(1465-1467)aGa>aAa p.R489K COAD 3 8923064 8923064 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:8923064T>C c.1465A>G c.(1465-1467)Aga>Gga p.R489G COAD 3 8923064 8923064 + Missense_Mutation SNP T T C TCGA-AZ-6603-01A-11D-1835-10 TCGA-AZ-6603-11A-02D-1835-10 g.chr3:8923064T>C c.1465A>G c.(1465-1467)Aga>Gga p.R489G COAD 3 8923099 8923099 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr3:8923099C>T c.1430G>A c.(1429-1431)cGc>cAc p.R477H COAD 3 8932135 8932135 + Splice_Site SNP A A G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:8932135A>G c.1323T>C c.(1321-1323)agT>agC p.S441S COAD 3 8944106 8944106 + Missense_Mutation SNP T T C TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr3:8944106T>C c.1126A>G c.(1126-1128)Aaa>Gaa p.K376E COAD 3 8977606 8977606 + Nonsense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:8977606C>A c.838G>T c.(838-840)Gaa>Taa p.E280* COAD 3 8977636 8977636 + Missense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:8977636T>G c.808A>C c.(808-810)Aat>Cat p.N270H COAD 3 8981263 8981263 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:8981263C>T c.679G>A c.(679-681)Gaa>Aaa p.E227K COAD 3 8983220 8983220 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:8983220C>T c.535G>A c.(535-537)Gct>Act p.A179T COAD 3 8983368 8983368 + Silent SNP C C A TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr3:8983368C>A c.387G>T c.(385-387)ggG>ggT p.G129G COAD 3 8983369 8983369 + Missense_Mutation SNP C C A TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr3:8983369C>A c.386G>T c.(385-387)gGg>gTg p.G129V COAD 3 8983443 8983445 + In_Frame_Del DEL AGG AGG - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:8983443_8983445delAGG c.310_312delCCT c.(310-312)cctdel p.P104del COAD 3 8988905 8988905 + Splice_Site SNP G G A TCGA-A6-2677-01A-01W-0831-10 TCGA-A6-2677-10A-01W-0831-10 g.chr3:8988905G>A c.265C>T c.(265-267)Cgg>Tgg p.R89W COAD 3 9005025 9005025 + Silent SNP G G A TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr3:9005025G>A c.45C>T c.(43-45)gtC>gtT p.V15V COAD 3 9005026 9005026 + Missense_Mutation SNP A A G TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr3:9005026A>G c.44T>C c.(43-45)gTc>gCc p.V15A COAD 3 9005034 9005034 + Silent SNP G G A TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr3:9005034G>A c.36C>T c.(34-36)ggC>ggT p.G12G COADREAD 3 8923062 8923062 + Silent SNP T T C TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr3:8923062T>C c.1467A>G c.(1465-1467)agA>agG p.R489R COADREAD 3 8923063 8923063 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr3:8923063C>T c.1466G>A c.(1465-1467)aGa>aAa p.R489K COADREAD 3 8923064 8923064 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:8923064T>C c.1465A>G c.(1465-1467)Aga>Gga p.R489G COADREAD 3 8923064 8923064 + Missense_Mutation SNP T T C TCGA-AZ-6603-01A-11D-1835-10 TCGA-AZ-6603-11A-02D-1835-10 g.chr3:8923064T>C c.1465A>G c.(1465-1467)Aga>Gga p.R489G COADREAD 3 8923064 8923064 + Missense_Mutation SNP T T C TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr3:8923064T>C c.1465A>G c.(1465-1467)Aga>Gga p.R489G COADREAD 3 8923099 8923099 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr3:8923099C>T c.1430G>A c.(1429-1431)cGc>cAc p.R477H COADREAD 3 8932135 8932135 + Splice_Site SNP A A G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:8932135A>G c.1323T>C c.(1321-1323)agT>agC p.S441S COADREAD 3 8944106 8944106 + Missense_Mutation SNP T T C TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr3:8944106T>C c.1126A>G c.(1126-1128)Aaa>Gaa p.K376E COADREAD 3 8977606 8977606 + Nonsense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:8977606C>A c.838G>T c.(838-840)Gaa>Taa p.E280* COADREAD 3 8977636 8977636 + Missense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:8977636T>G c.808A>C c.(808-810)Aat>Cat p.N270H COADREAD 3 8981263 8981263 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:8981263C>T c.679G>A c.(679-681)Gaa>Aaa p.E227K COADREAD 3 8983220 8983220 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:8983220C>T c.535G>A c.(535-537)Gct>Act p.A179T COADREAD 3 8983368 8983368 + Silent SNP C C A TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr3:8983368C>A c.387G>T c.(385-387)ggG>ggT p.G129G COADREAD 3 8983368 8983368 + Silent SNP C C A TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr3:8983368C>A c.387G>T c.(385-387)ggG>ggT p.G129G COADREAD 3 8983369 8983369 + Missense_Mutation SNP C C A TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr3:8983369C>A c.386G>T c.(385-387)gGg>gTg p.G129V COADREAD 3 8983425 8983425 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:8983425C>A c.330G>T c.(328-330)aaG>aaT p.K110N COADREAD 3 8983443 8983445 + In_Frame_Del DEL AGG AGG - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:8983443_8983445delAGG c.310_312delCCT c.(310-312)cctdel p.P104del COADREAD 3 8988905 8988905 + Splice_Site SNP G G A TCGA-A6-2677-01A-01W-0831-10 TCGA-A6-2677-10A-01W-0831-10 g.chr3:8988905G>A c.265C>T c.(265-267)Cgg>Tgg p.R89W COADREAD 3 9005025 9005025 + Silent SNP G G A TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr3:9005025G>A c.45C>T c.(43-45)gtC>gtT p.V15V COADREAD 3 9005026 9005026 + Missense_Mutation SNP A A G TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr3:9005026A>G c.44T>C c.(43-45)gTc>gCc p.V15A COADREAD 3 9005034 9005034 + Silent SNP G G A TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr3:9005034G>A c.36C>T c.(34-36)ggC>ggT p.G12G ESCA 3 8983397 8983397 + Missense_Mutation SNP C C A TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr3:8983397C>A c.358G>T c.(358-360)Gta>Tta p.V120L HNSC 3 8940660 8940660 + Nonsense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr3:8940660C>A c.1240G>T c.(1240-1242)Gaa>Taa p.E414* HNSC 3 8944093 8944093 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 g.chr3:8944093G>C c.1139C>G c.(1138-1140)tCt>tGt p.S380C HNSC 3 8944189 8944189 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 g.chr3:8944189C>A c.1043G>T c.(1042-1044)aGt>aTt p.S348I HNSC 3 8955357 8955357 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr3:8955357G>A c.937C>T c.(937-939)Cgt>Tgt p.R313C HNSC 3 8990250 8990250 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr3:8990250G>A c.138C>T c.(136-138)tgC>tgT p.C46C KIPAN 3 8955405 8955406 + Splice_Site INS - - TG TCGA-A4-8515-01A-11D-2396-08 TCGA-A4-8515-10A-01D-2396-08 g.chr3:8955405_8955406insTG c.e8-1 KIRP 3 8955405 8955406 + Splice_Site INS - - TG TCGA-A4-8515-01A-11D-2396-08 TCGA-A4-8515-10A-01D-2396-08 g.chr3:8955405_8955406insTG c.e8-1 LIHC 3 8977726 8977726 + Frame_Shift_Del DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr3:8977726delT c.718delA c.(718-720)aggfs p.R240fs LIHC 3 8988966 8988966 + Silent SNP T T A TCGA-DD-AADU-01A-11D-A40R-10 TCGA-DD-AADU-10A-01D-A40U-10 g.chr3:8988966T>A c.204A>T c.(202-204)acA>acT p.T68T LUAD 3 8940671 8940671 + Missense_Mutation SNP G G A TCGA-17-Z044-01A-01W-0746-08 TCGA-17-Z044-11A-01W-0746-08 g.chr3:8940671G>A c.1229C>T c.(1228-1230)cCa>cTa p.P410L LUAD 3 8977576 8977576 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 g.chr3:8977576C>G c.868G>C c.(868-870)Gat>Cat p.D290H LUAD 3 8977689 8977689 + Missense_Mutation SNP G G C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 g.chr3:8977689G>C c.755C>G c.(754-756)tCt>tGt p.S252C LUAD 3 8983324 8983324 + Missense_Mutation SNP G G A TCGA-55-A493-01A-11D-A24D-08 TCGA-55-A493-10A-01D-A24F-08 g.chr3:8983324G>A c.431C>T c.(430-432)tCt>tTt p.S144F LUSC 3 8940593 8940593 + Nonsense_Mutation SNP G G T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr3:8940593G>T c.1307C>A c.(1306-1308)tCa>tAa p.S436* OV 3 8923063 8923063 + Missense_Mutation SNP C C G TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 g.chr3:8923063C>G c.1466G>C c.(1465-1467)aGa>aCa p.R489T OV 3 9005025 9005025 + Silent SNP G G A TCGA-24-1471-01A-01W-0551-08 TCGA-24-1471-10A-01W-0551-08 g.chr3:9005025G>A c.45C>T c.(43-45)gtC>gtT p.V15V PRAD 3 8944154 8944154 + Missense_Mutation SNP C C T TCGA-EJ-A65B-01A-12D-A30E-08 TCGA-EJ-A65B-10A-01D-A30H-08 g.chr3:8944154C>T c.1078G>A c.(1078-1080)Gga>Aga p.G360R PRAD 3 8981263 8981263 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:8981263C>T c.679G>A c.(679-681)Gaa>Aaa p.E227K PRAD 3 8988943 8988943 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:8988943C>T c.227G>A c.(226-228)cGc>cAc p.R76H PRAD 3 9000636 9000636 + Missense_Mutation SNP A A G TCGA-ZG-A9LB-01A-11D-A41K-08 TCGA-ZG-A9LB-10A-01D-A41N-08 g.chr3:9000636A>G c.101T>C c.(100-102)aTt>aCt p.I34T READ 3 8923064 8923064 + Missense_Mutation SNP T T C TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr3:8923064T>C c.1465A>G c.(1465-1467)Aga>Gga p.R489G READ 3 8983368 8983368 + Silent SNP C C A TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr3:8983368C>A c.387G>T c.(385-387)ggG>ggT p.G129G READ 3 8983425 8983425 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:8983425C>A c.330G>T c.(328-330)aaG>aaT p.K110N SARC 3 8944165 8944165 + Frame_Shift_Del DEL T T - TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 g.chr3:8944165delT c.1067delA c.(1066-1068)cagfs p.Q356fs SARC 3 8981242 8981242 + Missense_Mutation SNP T T C TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 g.chr3:8981242T>C c.700A>G c.(700-702)Aga>Gga p.R234G SARC 3 8983159 8983159 + Missense_Mutation SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr3:8983159A>G c.596T>C c.(595-597)gTt>gCt p.V199A SKCM 3 8940727 8940727 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr3:8940727C>T c.1173G>A c.(1171-1173)caG>caA p.Q391Q SKCM 3 8977647 8977647 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr3:8977647G>A c.797C>T c.(796-798)tCt>tTt p.S266F SKCM 3 8977684 8977684 + Missense_Mutation SNP G G A TCGA-EE-A185-06A-11D-A196-08 TCGA-EE-A185-10A-01D-A198-08 g.chr3:8977684G>A c.760C>T c.(760-762)Cgt>Tgt p.R254C SKCM 3 8983221 8983221 + Silent SNP G G A TCGA-DA-A1I0-06A-11D-A20D-08 TCGA-DA-A1I0-10B-01D-A20D-08 g.chr3:8983221G>A c.534C>T c.(532-534)atC>atT p.I178I SKCM 3 8983349 8983349 + Missense_Mutation SNP A A T TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr3:8983349A>T c.406T>A c.(406-408)Ttc>Atc p.F136I SKCM 3 8983456 8983456 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr3:8983456G>A c.299C>T c.(298-300)cCa>cTa p.P100L

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 3 9000649 9000649 single base substitution C G exon_variant BLCA-CN 3 9000649 9000649 single base substitution C G intron_variant BLCA-CN 3 9000649 9000649 single base substitution C G missense_variant E30Q 88G>C BLCA-US 3 8988964 8988964 single base substitution T C exon_variant BLCA-US 3 8988964 8988964 single base substitution T C missense_variant E69G 206A>G BRCA-EU 3 8812826 8812826 single base substitution C T downstream_gene_variant BRCA-EU 3 8813537 8813537 single base substitution G A downstream_gene_variant BRCA-EU 3 8815217 8815217 single base substitution G A downstream_gene_variant BRCA-EU 3 8815495 8815549 deletion of <=200bp GCCCACTTTTTAATGGGGTTGTTTTTTTCTTGTATCCAAGCATCTTAAAGGTGGG - downstream_gene_variant BRCA-EU 3 8815575 8815575 single base substitution C G downstream_gene_variant BRCA-EU 3 8816113 8816113 single base substitution G C downstream_gene_variant BRCA-EU 3 8816453 8816453 single base substitution A G downstream_gene_variant BRCA-EU 3 8819291 8819294 deletion of <=200bp AAAT - intron_variant BRCA-EU 3 8819520 8819520 single base substitution T A intron_variant BRCA-EU 3 8821922 8821922 single base substitution G A intron_variant BRCA-EU 3 8822656 8822656 single base substitution G A intron_variant BRCA-EU 3 8822887 8822887 single base substitution A T intron_variant BRCA-EU 3 8823168 8823168 single base substitution A C intron_variant BRCA-EU 3 8823439 8823439 single base substitution G C intron_variant BRCA-EU 3 8824333 8824333 single base substitution G C intron_variant BRCA-EU 3 8824389 8824389 single base substitution G C intron_variant BRCA-EU 3 8824845 8824845 single base substitution G C intron_variant BRCA-EU 3 8825109 8825109 insertion of <=200bp - A intron_variant BRCA-EU 3 8827644 8827644 deletion of <=200bp G - intron_variant BRCA-EU 3 8828071 8828071 single base substitution T A intron_variant BRCA-EU 3 8830180 8830180 single base substitution G C intron_variant BRCA-EU 3 8830280 8830280 single base substitution C G intron_variant BRCA-EU 3 8830755 8830755 single base substitution G A intron_variant BRCA-EU 3 8831063 8831063 single base substitution G A intron_variant BRCA-EU 3 8831221 8831221 single base substitution G C intron_variant BRCA-EU 3 8831245 8831245 single base substitution G A intron_variant BRCA-EU 3 8831309 8831309 single base substitution G A intron_variant BRCA-EU 3 8831604 8831604 single base substitution G A intron_variant BRCA-EU 3 8831605 8831605 single base substitution G A intron_variant BRCA-EU 3 8831641 8831641 single base substitution G C intron_variant BRCA-EU 3 8831647 8831647 single base substitution G A intron_variant BRCA-EU 3 8831856 8831856 single base substitution G A intron_variant BRCA-EU 3 8831945 8831945 single base substitution G T intron_variant BRCA-EU 3 8832025 8832025 single base substitution G C intron_variant BRCA-EU 3 8833302 8833302 single base substitution G C intron_variant BRCA-EU 3 8834543 8834543 single base substitution C T intron_variant BRCA-EU 3 8835047 8835047 single base substitution G A intron_variant BRCA-EU 3 8836574 8836574 single base substitution A C intron_variant BRCA-EU 3 8836632 8836632 single base substitution G C intron_variant BRCA-EU 3 8837814 8837814 single base substitution A T intron_variant BRCA-EU 3 8839536 8839536 single base substitution G C intron_variant BRCA-EU 3 8841140 8841140 single base substitution G A intron_variant BRCA-EU 3 8841748 8841748 single base substitution A G intron_variant BRCA-EU 3 8843404 8843404 single base substitution A G intron_variant BRCA-EU 3 8844019 8844019 single base substitution C T intron_variant BRCA-EU 3 8844707 8844711 deletion of <=200bp AACTC - intron_variant BRCA-EU 3 8844752 8844752 single base substitution G C intron_variant BRCA-EU 3 8845137 8845137 single base substitution T C intron_variant BRCA-EU 3 8845161 8845161 deletion of <=200bp A - intron_variant BRCA-EU 3 8845433 8845433 single base substitution T C intron_variant BRCA-EU 3 8845993 8845993 single base substitution T C intron_variant BRCA-EU 3 8846214 8846214 insertion of <=200bp - A intron_variant BRCA-EU 3 8846744 8846744 single base substitution C T intron_variant BRCA-EU 3 8847691 8847691 single base substitution C G intron_variant BRCA-EU 3 8848099 8848099 single base substitution G T intron_variant BRCA-EU 3 8848173 8848173 single base substitution G C intron_variant BRCA-EU 3 8850015 8850015 single base substitution C T intron_variant BRCA-EU 3 8850110 8850110 single base substitution G C intron_variant BRCA-EU 3 8850845 8850845 single base substitution C G intron_variant BRCA-EU 3 8851182 8851182 single base substitution G C intron_variant BRCA-EU 3 8852894 8852894 single base substitution C G intron_variant BRCA-EU 3 8854654 8854654 single base substitution G A intron_variant BRCA-EU 3 8855508 8855508 single base substitution G A intron_variant BRCA-EU 3 8855933 8855933 single base substitution C G intron_variant BRCA-EU 3 8858305 8858305 single base substitution C A intron_variant BRCA-EU 3 8859365 8859365 single base substitution T A intron_variant BRCA-EU 3 8859428 8859428 single base substitution G T intron_variant BRCA-EU 3 8859478 8859478 single base substitution C G intron_variant BRCA-EU 3 8859995 8859995 single base substitution C A intron_variant BRCA-EU 3 8861120 8861120 single base substitution C A intron_variant BRCA-EU 3 8861285 8861285 single base substitution G C intron_variant BRCA-EU 3 8862573 8862573 single base substitution C T intron_variant BRCA-EU 3 8863174 8863174 single base substitution G C intron_variant BRCA-EU 3 8864474 8864474 single base substitution G A intron_variant BRCA-EU 3 8864548 8864548 single base substitution G C intron_variant BRCA-EU 3 8864818 8864818 single base substitution C T intron_variant BRCA-EU 3 8864918 8864918 single base substitution C T intron_variant BRCA-EU 3 8867043 8867043 single base substitution A C intron_variant BRCA-EU 3 8869294 8869294 single base substitution T C intron_variant BRCA-EU 3 8869820 8869820 single base substitution T G intron_variant BRCA-EU 3 8871508 8871508 single base substitution C T intron_variant BRCA-EU 3 8871755 8871755 single base substitution A C intron_variant BRCA-EU 3 8871996 8871996 single base substitution T C intron_variant BRCA-EU 3 8872800 8872800 single base substitution C T intron_variant BRCA-EU 3 8872983 8872983 single base substitution T C intron_variant BRCA-EU 3 8873744 8873744 single base substitution A G intron_variant BRCA-EU 3 8874634 8874634 single base substitution G A intron_variant BRCA-EU 3 8874877 8874877 single base substitution G A intron_variant BRCA-EU 3 8875346 8875346 single base substitution C G intron_variant BRCA-EU 3 8875844 8875844 single base substitution A T intron_variant BRCA-EU 3 8876556 8876556 single base substitution C T intron_variant BRCA-EU 3 8876673 8876673 single base substitution G A intron_variant BRCA-EU 3 8877895 8877895 single base substitution G C intron_variant BRCA-EU 3 8878498 8878498 single base substitution C T intron_variant BRCA-EU 3 8878988 8878988 single base substitution C G intron_variant BRCA-EU 3 8880235 8880235 single base substitution T C intron_variant BRCA-EU 3 8883725 8883725 single base substitution A G intron_variant BRCA-EU 3 8884376 8884376 single base substitution G C intron_variant BRCA-EU 3 8884935 8884935 single base substitution G A intron_variant BRCA-EU 3 8885384 8885384 single base substitution G A intron_variant BRCA-EU 3 8886026 8886026 single base substitution A G intron_variant BRCA-EU 3 8887167 8887167 single base substitution G C intron_variant BRCA-EU 3 8887902 8887902 single base substitution C G intron_variant BRCA-EU 3 8890735 8890735 single base substitution T G intron_variant BRCA-EU 3 8891036 8891036 single base substitution G A intron_variant BRCA-EU 3 8891148 8891148 single base substitution G C intron_variant BRCA-EU 3 8891845 8891845 single base substitution C G intron_variant BRCA-EU 3 8892894 8892894 single base substitution G A intron_variant BRCA-EU 3 8893589 8893589 single base substitution C T intron_variant BRCA-EU 3 8895227 8895227 single base substitution G A intron_variant BRCA-EU 3 8895781 8895781 single base substitution C A intron_variant BRCA-EU 3 8895897 8895897 single base substitution G T intron_variant BRCA-EU 3 8897684 8897684 single base substitution C G intron_variant BRCA-EU 3 8898797 8898797 single base substitution C G intron_variant BRCA-EU 3 8902330 8902330 single base substitution T C intron_variant BRCA-EU 3 8903435 8903435 single base substitution G A intron_variant BRCA-EU 3 8903951 8903951 single base substitution G A intron_variant BRCA-EU 3 8904225 8904225 single base substitution G A intron_variant BRCA-EU 3 8905549 8905549 single base substitution G C intron_variant BRCA-EU 3 8905911 8905911 single base substitution C G intron_variant BRCA-EU 3 8907854 8907854 single base substitution G C intron_variant BRCA-EU 3 8909276 8909276 single base substitution C G intron_variant BRCA-EU 3 8909737 8909737 single base substitution A C intron_variant BRCA-EU 3 8910441 8910441 single base substitution G A intron_variant BRCA-EU 3 8911329 8911329 single base substitution C A intron_variant BRCA-EU 3 8913025 8913025 insertion of <=200bp - TAAA intron_variant BRCA-EU 3 8914033 8914033 single base substitution A T downstream_gene_variant BRCA-EU 3 8914033 8914033 single base substitution A T intron_variant BRCA-EU 3 8914862 8914862 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 8914862 8914862 deletion of <=200bp A - intron_variant BRCA-EU 3 8915905 8915905 single base substitution A T downstream_gene_variant BRCA-EU 3 8915905 8915905 single base substitution A T intron_variant BRCA-EU 3 8917056 8917056 single base substitution G C downstream_gene_variant BRCA-EU 3 8917056 8917056 single base substitution G C intron_variant BRCA-EU 3 8917617 8917617 single base substitution G A downstream_gene_variant BRCA-EU 3 8917617 8917617 single base substitution G A intron_variant BRCA-EU 3 8919381 8919381 single base substitution C A 3_prime_UTR_variant BRCA-EU 3 8919381 8919381 single base substitution C A downstream_gene_variant BRCA-EU 3 8919381 8919381 single base substitution C A intron_variant BRCA-EU 3 8922447 8922447 single base substitution A G 3_prime_UTR_variant BRCA-EU 3 8922447 8922447 single base substitution A G downstream_gene_variant BRCA-EU 3 8922447 8922447 single base substitution A G intron_variant BRCA-EU 3 8922574 8922574 single base substitution C A 3_prime_UTR_variant BRCA-EU 3 8922574 8922574 single base substitution C A downstream_gene_variant BRCA-EU 3 8922574 8922574 single base substitution C A intron_variant BRCA-EU 3 8923153 8923153 single base substitution G C intron_variant BRCA-EU 3 8924012 8924012 single base substitution G C intron_variant BRCA-EU 3 8924348 8924348 single base substitution G C intron_variant BRCA-EU 3 8924928 8924928 single base substitution T A intron_variant BRCA-EU 3 8926738 8926738 single base substitution G T intron_variant BRCA-EU 3 8928134 8928134 single base substitution T C downstream_gene_variant BRCA-EU 3 8928134 8928134 single base substitution T C intron_variant BRCA-EU 3 8929003 8929003 single base substitution A G downstream_gene_variant BRCA-EU 3 8929003 8929003 single base substitution A G intron_variant BRCA-EU 3 8930592 8930592 single base substitution C G downstream_gene_variant BRCA-EU 3 8930592 8930592 single base substitution C G intron_variant BRCA-EU 3 8930675 8930675 single base substitution C G downstream_gene_variant BRCA-EU 3 8930675 8930675 single base substitution C G intron_variant BRCA-EU 3 8931487 8931487 single base substitution C T downstream_gene_variant BRCA-EU 3 8931487 8931487 single base substitution C T intron_variant BRCA-EU 3 8937219 8937219 single base substitution C G intron_variant BRCA-EU 3 8938564 8938564 single base substitution G A intron_variant BRCA-EU 3 8939008 8939008 single base substitution G A intron_variant BRCA-EU 3 8939394 8939394 single base substitution G C intron_variant BRCA-EU 3 8939510 8939510 single base substitution G A intron_variant BRCA-EU 3 8939666 8939666 single base substitution G C intron_variant BRCA-EU 3 8941834 8941834 single base substitution C A intron_variant BRCA-EU 3 8943914 8943914 single base substitution A G intron_variant BRCA-EU 3 8944827 8944827 single base substitution G A intron_variant BRCA-EU 3 8944827 8944827 single base substitution G A upstream_gene_variant BRCA-EU 3 8945313 8945313 single base substitution G A intron_variant BRCA-EU 3 8945313 8945313 single base substitution G A upstream_gene_variant BRCA-EU 3 8947003 8947003 single base substitution G A intron_variant BRCA-EU 3 8947003 8947003 single base substitution G A upstream_gene_variant BRCA-EU 3 8947718 8947718 single base substitution T G intron_variant BRCA-EU 3 8947718 8947718 single base substitution T G upstream_gene_variant BRCA-EU 3 8947719 8947719 single base substitution G A intron_variant BRCA-EU 3 8947719 8947719 single base substitution G A upstream_gene_variant BRCA-EU 3 8949059 8949059 single base substitution T C intron_variant BRCA-EU 3 8949059 8949059 single base substitution T C upstream_gene_variant BRCA-EU 3 8949129 8949129 single base substitution C T intron_variant BRCA-EU 3 8949129 8949129 single base substitution C T upstream_gene_variant BRCA-EU 3 8949626 8949626 single base substitution G A intron_variant BRCA-EU 3 8950703 8950703 single base substitution C T intron_variant BRCA-EU 3 8951128 8951128 single base substitution G A intron_variant BRCA-EU 3 8951950 8951950 single base substitution C T intron_variant BRCA-EU 3 8955025 8955025 deletion of <=200bp G - intron_variant BRCA-EU 3 8955025 8955025 deletion of <=200bp G - upstream_gene_variant BRCA-EU 3 8955578 8955578 deletion of <=200bp A - intron_variant BRCA-EU 3 8955578 8955578 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 8955847 8955847 single base substitution C T intron_variant BRCA-EU 3 8955847 8955847 single base substitution C T upstream_gene_variant BRCA-EU 3 8957502 8957502 single base substitution C T intron_variant BRCA-EU 3 8957502 8957502 single base substitution C T upstream_gene_variant BRCA-EU 3 8957840 8957840 single base substitution C A intron_variant BRCA-EU 3 8957840 8957840 single base substitution C A upstream_gene_variant BRCA-EU 3 8958167 8958167 single base substitution A G intron_variant BRCA-EU 3 8958167 8958167 single base substitution A G upstream_gene_variant BRCA-EU 3 8960301 8960301 single base substitution C A intron_variant BRCA-EU 3 8960582 8960582 single base substitution G C intron_variant BRCA-EU 3 8961013 8961013 deletion of <=200bp A - intron_variant BRCA-EU 3 8961013 8961013 insertion of <=200bp - A intron_variant BRCA-EU 3 8962085 8962085 single base substitution A T intron_variant BRCA-EU 3 8963325 8963325 insertion of <=200bp - A intron_variant BRCA-EU 3 8964235 8964235 single base substitution C A intron_variant BRCA-EU 3 8968569 8968569 single base substitution T C intron_variant BRCA-EU 3 8969556 8969556 single base substitution G C intron_variant BRCA-EU 3 8970690 8970690 single base substitution C G intron_variant BRCA-EU 3 8971029 8971029 single base substitution G A intron_variant BRCA-EU 3 8972592 8972592 single base substitution C G intron_variant BRCA-EU 3 8972804 8972804 single base substitution C G intron_variant BRCA-EU 3 8974169 8974169 single base substitution G A intron_variant BRCA-EU 3 8974431 8974431 single base substitution G A intron_variant BRCA-EU 3 8978956 8978956 single base substitution A G downstream_gene_variant BRCA-EU 3 8978956 8978956 single base substitution A G intron_variant BRCA-EU 3 8979092 8979092 single base substitution C T downstream_gene_variant BRCA-EU 3 8979092 8979092 single base substitution C T intron_variant BRCA-EU 3 8979219 8979219 single base substitution C T downstream_gene_variant BRCA-EU 3 8979219 8979219 single base substitution C T intron_variant BRCA-EU 3 8980458 8980458 single base substitution C T downstream_gene_variant BRCA-EU 3 8980458 8980458 single base substitution C T intron_variant BRCA-EU 3 8980704 8980704 single base substitution T A downstream_gene_variant BRCA-EU 3 8980704 8980704 single base substitution T A intron_variant BRCA-EU 3 8980870 8980870 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 8980870 8980870 deletion of <=200bp T - intron_variant BRCA-EU 3 8982991 8982991 single base substitution A C downstream_gene_variant BRCA-EU 3 8982991 8982991 single base substitution A C intron_variant BRCA-EU 3 8983488 8983488 single base substitution C T splice_region_variant BRCA-EU 3 8985482 8985482 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 8985482 8985482 insertion of <=200bp - A intron_variant BRCA-EU 3 8987361 8987361 single base substitution G A downstream_gene_variant BRCA-EU 3 8987361 8987361 single base substitution G A intron_variant BRCA-EU 3 8987669 8987669 single base substitution G C downstream_gene_variant BRCA-EU 3 8987669 8987669 single base substitution G C intron_variant BRCA-EU 3 8990308 8990308 single base substitution G C intron_variant BRCA-EU 3 8995558 8995558 single base substitution G A intron_variant BRCA-EU 3 8997936 8997936 single base substitution C A intron_variant BRCA-EU 3 8999049 8999049 deletion of <=200bp A - intron_variant BRCA-EU 3 9002132 9002132 single base substitution G C intron_variant BRCA-EU 3 9002738 9002738 single base substitution G C intron_variant BRCA-EU 3 9003118 9003118 single base substitution C T intron_variant BRCA-EU 3 9003124 9003124 single base substitution G A intron_variant BRCA-EU 3 9005025 9005025 single base substitution G C exon_variant BRCA-EU 3 9005025 9005025 single base substitution G C synonymous_variant V15V 45C>G BRCA-EU 3 9005103 9005103 single base substitution C G 5_prime_UTR_variant BRCA-EU 3 9005103 9005103 single base substitution C G exon_variant BRCA-EU 3 9005281 9005283 deletion of <=200bp GAA - splice_region_variant BRCA-EU 3 9005281 9005283 deletion of <=200bp GAA - upstream_gene_variant BRCA-EU 3 9005637 9005637 single base substitution C T upstream_gene_variant BRCA-EU 3 9006380 9006380 single base substitution A G upstream_gene_variant BRCA-EU 3 9007718 9007718 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 9007737 9007737 insertion of <=200bp - A upstream_gene_variant BRCA-EU 3 9008870 9008870 single base substitution A C upstream_gene_variant BRCA-EU 3 9010000 9010000 single base substitution G T upstream_gene_variant BRCA-EU 3 9010403 9010403 single base substitution C T upstream_gene_variant BRCA-FR 3 8847278 8847278 single base substitution C G intron_variant BRCA-FR 3 8861285 8861285 single base substitution G C intron_variant BRCA-FR 3 8872217 8872217 single base substitution G A intron_variant BRCA-FR 3 8891148 8891148 single base substitution G C intron_variant BRCA-FR 3 8892894 8892894 single base substitution G A intron_variant BRCA-FR 3 8895227 8895227 single base substitution G A intron_variant BRCA-FR 3 8897369 8897369 single base substitution C T intron_variant BRCA-FR 3 8897684 8897684 single base substitution C G intron_variant BRCA-FR 3 8905327 8905327 single base substitution G A intron_variant BRCA-FR 3 8905549 8905549 single base substitution G C intron_variant BRCA-FR 3 8909276 8909276 single base substitution C G intron_variant BRCA-FR 3 8917056 8917056 single base substitution G C downstream_gene_variant BRCA-FR 3 8917056 8917056 single base substitution G C intron_variant BRCA-FR 3 8917617 8917617 single base substitution G A downstream_gene_variant BRCA-FR 3 8917617 8917617 single base substitution G A intron_variant BRCA-FR 3 8922636 8922636 single base substitution C T 3_prime_UTR_variant BRCA-FR 3 8922636 8922636 single base substitution C T downstream_gene_variant BRCA-FR 3 8922636 8922636 single base substitution C T intron_variant BRCA-FR 3 8924012 8924012 single base substitution G C intron_variant BRCA-FR 3 8926738 8926738 single base substitution G T intron_variant BRCA-FR 3 8939510 8939510 single base substitution G A intron_variant BRCA-FR 3 8944827 8944827 single base substitution G A intron_variant BRCA-FR 3 8944827 8944827 single base substitution G A upstream_gene_variant BRCA-FR 3 8947719 8947719 single base substitution G A intron_variant BRCA-FR 3 8947719 8947719 single base substitution G A upstream_gene_variant BRCA-FR 3 8949685 8949685 single base substitution G T intron_variant BRCA-FR 3 8951950 8951950 single base substitution C T intron_variant BRCA-FR 3 8958167 8958167 single base substitution A G intron_variant BRCA-FR 3 8958167 8958167 single base substitution A G upstream_gene_variant BRCA-FR 3 8964235 8964235 single base substitution C A intron_variant BRCA-FR 3 8979256 8979256 single base substitution G A downstream_gene_variant BRCA-FR 3 8979256 8979256 single base substitution G A intron_variant BRCA-FR 3 8983488 8983488 single base substitution C T splice_region_variant BRCA-FR 3 8986422 8986422 single base substitution G C downstream_gene_variant BRCA-FR 3 8986422 8986422 single base substitution G C intron_variant BRCA-FR 3 8987669 8987669 single base substitution G A downstream_gene_variant BRCA-FR 3 8987669 8987669 single base substitution G A intron_variant BRCA-FR 3 9002132 9002132 single base substitution G C intron_variant BRCA-UK 3 8852894 8852894 single base substitution C G intron_variant BRCA-UK 3 8864548 8864548 single base substitution G C intron_variant BRCA-UK 3 8865799 8865799 single base substitution C G intron_variant BRCA-UK 3 8887902 8887902 single base substitution C G intron_variant BRCA-UK 3 8910441 8910441 single base substitution G A intron_variant BRCA-UK 3 8955847 8955847 single base substitution C T intron_variant BRCA-UK 3 8955847 8955847 single base substitution C T upstream_gene_variant BRCA-UK 3 8990989 8990989 single base substitution G A intron_variant BRCA-UK 3 9010000 9010000 single base substitution G T upstream_gene_variant BRCA-US 3 8923136 8923136 single base substitution G T 3_prime_UTR_variant BRCA-US 3 8923136 8923136 single base substitution G T exon_variant BRCA-US 3 8923136 8923136 single base substitution G T intron_variant BRCA-US 3 8923136 8923136 single base substitution G T missense_variant L465I 1393C>A BRCA-US 3 8932110 8932110 single base substitution G A 3_prime_UTR_variant BRCA-US 3 8932110 8932110 single base substitution G A exon_variant BRCA-US 3 8932110 8932110 single base substitution G A missense_variant L450F 1348C>T BRCA-US 3 8932110 8932110 single base substitution G A missense_variant L67F 199C>T BRCA-US 3 8932110 8932110 single base substitution G A missense_variant L86F 256C>T BRCA-US 3 8954040 8954040 deletion of <=200bp T - exon_variant BRCA-US 3 8954040 8954040 deletion of <=200bp T - frameshift_variant K328 BRCA-US 3 8955390 8955390 single base substitution G A intron_variant BRCA-US 3 8955390 8955390 single base substitution G A stop_gained R302* 904C>T BRCA-US 3 8955390 8955390 single base substitution G A upstream_gene_variant BRCA-US 3 8983486 8983486 single base substitution T A missense_variant N90I 269A>T BRCA-US 3 8983486 8983486 single base substitution T A splice_region_variant BTCA-JP 3 8817222 8817222 single base substitution T C 3_prime_UTR_variant BTCA-JP 3 8923033 8923033 single base substitution A G 3_prime_UTR_variant BTCA-JP 3 8923033 8923033 single base substitution A G downstream_gene_variant BTCA-JP 3 8923033 8923033 single base substitution A G intron_variant BTCA-JP 3 8988999 8988999 deletion of <=200bp A - intron_variant BTCA-JP 3 9005113 9005113 single base substitution C T 5_prime_UTR_variant BTCA-JP 3 9005113 9005113 single base substitution C T exon_variant CLLE-ES 3 8814151 8814151 single base substitution C T downstream_gene_variant CLLE-ES 3 8829982 8829982 single base substitution T G intron_variant CLLE-ES 3 8832885 8832885 single base substitution G A intron_variant CLLE-ES 3 8869573 8869573 single base substitution C T intron_variant CLLE-ES 3 8893182 8893182 single base substitution C T intron_variant CLLE-ES 3 8929633 8929633 single base substitution C A downstream_gene_variant CLLE-ES 3 8929633 8929633 single base substitution C A intron_variant CLLE-ES 3 8972186 8972186 single base substitution A G intron_variant CLLE-ES 3 8976487 8976487 single base substitution G T intron_variant CLLE-ES 3 8980273 8980273 single base substitution T A downstream_gene_variant CLLE-ES 3 8980273 8980273 single base substitution T A intron_variant CLLE-ES 3 9005760 9005760 single base substitution C T upstream_gene_variant COAD-US 3 8923099 8923099 single base substitution C T 3_prime_UTR_variant COAD-US 3 8923099 8923099 single base substitution C T downstream_gene_variant COAD-US 3 8923099 8923099 single base substitution C T intron_variant COAD-US 3 8923099 8923099 single base substitution C T missense_variant R477H 1430G>A COAD-US 3 8932135 8932135 single base substitution A G splice_region_variant COAD-US 3 8944106 8944106 single base substitution T C 3_prime_UTR_variant COAD-US 3 8944106 8944106 single base substitution T C exon_variant COAD-US 3 8944106 8944106 single base substitution T C missense_variant K12E 34A>G COAD-US 3 8944106 8944106 single base substitution T C missense_variant K376E 1126A>G COAD-US 3 8944106 8944106 single base substitution T C upstream_gene_variant COAD-US 3 8977636 8977636 single base substitution T G exon_variant COAD-US 3 8977636 8977636 single base substitution T G missense_variant N270H 808A>C COAD-US 3 8981263 8981263 single base substitution C T downstream_gene_variant COAD-US 3 8981263 8981263 single base substitution C T exon_variant COAD-US 3 8981263 8981263 single base substitution C T missense_variant E227K 679G>A COAD-US 3 8983220 8983220 single base substitution C T 3_prime_UTR_variant COAD-US 3 8983220 8983220 single base substitution C T downstream_gene_variant COAD-US 3 8983220 8983220 single base substitution C T exon_variant COAD-US 3 8983220 8983220 single base substitution C T missense_variant A179T 535G>A COAD-US 3 8983443 8983445 deletion of <=200bp AGG - 3_prime_UTR_variant COAD-US 3 8983443 8983445 deletion of <=200bp AGG - downstream_gene_variant COAD-US 3 8983443 8983445 deletion of <=200bp AGG - exon_variant COAD-US 3 8983443 8983445 deletion of <=200bp AGG - inframe_deletion P104 COCA-CN 3 8923139 8923139 single base substitution C T 3_prime_UTR_variant COCA-CN 3 8923139 8923139 single base substitution C T exon_variant COCA-CN 3 8923139 8923139 single base substitution C T intron_variant COCA-CN 3 8923139 8923139 single base substitution C T missense_variant D464N 1390G>A COCA-CN 3 8932035 8932035 single base substitution T C 3_prime_UTR_variant COCA-CN 3 8932035 8932035 single base substitution T C intron_variant COCA-CN 3 8932052 8932052 single base substitution T G 3_prime_UTR_variant COCA-CN 3 8932052 8932052 single base substitution T G intron_variant COCA-CN 3 8940508 8940508 single base substitution T G intron_variant COCA-CN 3 8940615 8940615 single base substitution C A 3_prime_UTR_variant COCA-CN 3 8940615 8940615 single base substitution C A exon_variant COCA-CN 3 8940615 8940615 single base substitution C A stop_gained E429* 1285G>T COCA-CN 3 8940615 8940615 single base substitution C A stop_gained E46* 136G>T COCA-CN 3 8940615 8940615 single base substitution C A stop_gained E65* 193G>T COCA-CN 3 8944081 8944081 single base substitution A T 3_prime_UTR_variant COCA-CN 3 8944081 8944081 single base substitution A T exon_variant COCA-CN 3 8944081 8944081 single base substitution A T missense_variant L1Q 2T>A COCA-CN 3 8944081 8944081 single base substitution A T missense_variant L20Q 59T>A COCA-CN 3 8944081 8944081 single base substitution A T missense_variant L384Q 1151T>A COCA-CN 3 8981036 8981036 single base substitution G T downstream_gene_variant COCA-CN 3 8981036 8981036 single base substitution G T intron_variant COCA-CN 3 8981266 8981266 single base substitution G A downstream_gene_variant COCA-CN 3 8981266 8981266 single base substitution G A exon_variant COCA-CN 3 8981266 8981266 single base substitution G A missense_variant R226C 676C>T EOPC-DE 3 8821523 8821523 single base substitution A G intron_variant EOPC-DE 3 8877509 8877509 single base substitution G A intron_variant EOPC-DE 3 8963833 8963833 single base substitution C G intron_variant EOPC-DE 3 9006893 9006893 single base substitution G C upstream_gene_variant ESAD-UK 3 8812886 8812886 single base substitution G T downstream_gene_variant ESAD-UK 3 8814590 8814590 single base substitution G A downstream_gene_variant ESAD-UK 3 8814638 8814638 single base substitution G A downstream_gene_variant ESAD-UK 3 8814836 8814836 single base substitution T G downstream_gene_variant ESAD-UK 3 8814987 8814988 deletion of <=200bp TA - downstream_gene_variant ESAD-UK 3 8815005 8815007 deletion of <=200bp GAT - downstream_gene_variant ESAD-UK 3 8815012 8815024 deletion of <=200bp TAGATATAGATAT - downstream_gene_variant ESAD-UK 3 8816517 8816517 single base substitution G A downstream_gene_variant ESAD-UK 3 8817447 8817447 single base substitution C T intron_variant ESAD-UK 3 8817933 8817933 single base substitution C T intron_variant ESAD-UK 3 8821296 8821296 single base substitution T G intron_variant ESAD-UK 3 8821934 8821934 single base substitution C A intron_variant ESAD-UK 3 8822557 8822557 single base substitution G A intron_variant ESAD-UK 3 8824526 8824526 single base substitution A C intron_variant ESAD-UK 3 8824956 8824956 single base substitution C T intron_variant ESAD-UK 3 8825091 8825091 single base substitution A C intron_variant ESAD-UK 3 8825109 8825109 deletion of <=200bp A - intron_variant ESAD-UK 3 8826432 8826432 single base substitution C A intron_variant ESAD-UK 3 8827087 8827087 single base substitution C A intron_variant ESAD-UK 3 8827466 8827466 single base substitution A G intron_variant ESAD-UK 3 8828441 8828441 single base substitution C G intron_variant ESAD-UK 3 8829131 8829131 single base substitution C G intron_variant ESAD-UK 3 8830864 8830864 single base substitution G A intron_variant ESAD-UK 3 8831030 8831030 single base substitution G A intron_variant ESAD-UK 3 8831612 8831612 single base substitution G A intron_variant ESAD-UK 3 8833116 8833116 single base substitution G A intron_variant ESAD-UK 3 8833138 8833138 single base substitution C T intron_variant ESAD-UK 3 8833465 8833465 single base substitution A G intron_variant ESAD-UK 3 8834460 8834460 single base substitution C T intron_variant ESAD-UK 3 8834516 8834516 single base substitution T C intron_variant ESAD-UK 3 8836491 8836491 single base substitution A C intron_variant ESAD-UK 3 8837436 8837436 single base substitution A G intron_variant ESAD-UK 3 8838704 8838704 deletion of <=200bp T - intron_variant ESAD-UK 3 8840574 8840574 single base substitution C T intron_variant ESAD-UK 3 8842774 8842774 single base substitution C T intron_variant ESAD-UK 3 8843449 8843449 single base substitution T C intron_variant ESAD-UK 3 8845249 8845249 single base substitution G T intron_variant ESAD-UK 3 8846915 8846915 single base substitution A C intron_variant ESAD-UK 3 8847507 8847507 single base substitution C G intron_variant ESAD-UK 3 8847622 8847622 single base substitution T C intron_variant ESAD-UK 3 8848002 8848002 single base substitution C T intron_variant ESAD-UK 3 8848213 8848213 single base substitution C G intron_variant ESAD-UK 3 8848703 8848703 insertion of <=200bp - A intron_variant ESAD-UK 3 8849686 8849686 single base substitution A G intron_variant ESAD-UK 3 8852259 8852259 single base substitution A C intron_variant ESAD-UK 3 8852335 8852335 single base substitution A G intron_variant ESAD-UK 3 8854598 8854598 single base substitution C T intron_variant ESAD-UK 3 8857181 8857181 single base substitution C T intron_variant ESAD-UK 3 8857689 8857689 single base substitution C A intron_variant ESAD-UK 3 8858095 8858095 single base substitution A G intron_variant ESAD-UK 3 8858921 8858921 single base substitution G T intron_variant ESAD-UK 3 8863041 8863041 single base substitution C T intron_variant ESAD-UK 3 8864854 8864854 insertion of <=200bp - T intron_variant ESAD-UK 3 8865235 8865235 single base substitution C T intron_variant ESAD-UK 3 8866009 8866009 single base substitution C G intron_variant ESAD-UK 3 8866482 8866482 single base substitution T C intron_variant ESAD-UK 3 8866865 8866865 single base substitution C A intron_variant ESAD-UK 3 8867550 8867550 single base substitution G A intron_variant ESAD-UK 3 8868236 8868236 single base substitution T A intron_variant ESAD-UK 3 8869576 8869576 single base substitution C T intron_variant ESAD-UK 3 8873276 8873276 single base substitution G C intron_variant ESAD-UK 3 8874073 8874073 single base substitution C T intron_variant ESAD-UK 3 8874196 8874196 single base substitution C G intron_variant ESAD-UK 3 8875299 8875299 single base substitution C T intron_variant ESAD-UK 3 8875343 8875343 single base substitution G A intron_variant ESAD-UK 3 8875440 8875440 single base substitution G C intron_variant ESAD-UK 3 8875725 8875725 single base substitution T G intron_variant ESAD-UK 3 8876447 8876447 single base substitution T A intron_variant ESAD-UK 3 8879977 8879977 single base substitution T G intron_variant ESAD-UK 3 8884593 8884596 deletion of <=200bp AGTG - intron_variant ESAD-UK 3 8885245 8885245 single base substitution C A intron_variant ESAD-UK 3 8887661 8887661 single base substitution G T intron_variant ESAD-UK 3 8887982 8887982 single base substitution T C intron_variant ESAD-UK 3 8889451 8889451 single base substitution C T intron_variant ESAD-UK 3 8889883 8889883 single base substitution C T intron_variant ESAD-UK 3 8890891 8890891 single base substitution C T intron_variant ESAD-UK 3 8891417 8891417 single base substitution A T intron_variant ESAD-UK 3 8892593 8892593 deletion of <=200bp T - intron_variant ESAD-UK 3 8896537 8896537 single base substitution T C intron_variant ESAD-UK 3 8897106 8897106 single base substitution G A intron_variant ESAD-UK 3 8898053 8898053 single base substitution T G intron_variant ESAD-UK 3 8899234 8899234 single base substitution A C intron_variant ESAD-UK 3 8899250 8899250 single base substitution G C intron_variant ESAD-UK 3 8902170 8902170 single base substitution A G intron_variant ESAD-UK 3 8903997 8903997 single base substitution G A intron_variant ESAD-UK 3 8904588 8904588 single base substitution T A intron_variant ESAD-UK 3 8904742 8904742 single base substitution C T intron_variant ESAD-UK 3 8904769 8904769 single base substitution C T intron_variant ESAD-UK 3 8906441 8906441 single base substitution A G intron_variant ESAD-UK 3 8906820 8906820 single base substitution A G intron_variant ESAD-UK 3 8906875 8906875 single base substitution G A intron_variant ESAD-UK 3 8907081 8907081 single base substitution C T intron_variant ESAD-UK 3 8907558 8907559 deletion of <=200bp TA - intron_variant ESAD-UK 3 8907988 8907988 single base substitution C A intron_variant ESAD-UK 3 8908823 8908823 single base substitution G A intron_variant ESAD-UK 3 8909221 8909221 single base substitution G A intron_variant ESAD-UK 3 8909311 8909311 single base substitution T C intron_variant ESAD-UK 3 8910563 8910563 single base substitution C T intron_variant ESAD-UK 3 8912270 8912270 single base substitution C A intron_variant ESAD-UK 3 8918616 8918617 deletion of <=200bp TG - downstream_gene_variant ESAD-UK 3 8918616 8918617 deletion of <=200bp TG - intron_variant ESAD-UK 3 8919507 8919507 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 3 8919507 8919507 deletion of <=200bp A - downstream_gene_variant ESAD-UK 3 8919507 8919507 deletion of <=200bp A - intron_variant ESAD-UK 3 8919797 8919797 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 8919797 8919797 single base substitution G A downstream_gene_variant ESAD-UK 3 8919797 8919797 single base substitution G A intron_variant ESAD-UK 3 8921488 8921488 single base substitution G T 3_prime_UTR_variant ESAD-UK 3 8921488 8921488 single base substitution G T downstream_gene_variant ESAD-UK 3 8921488 8921488 single base substitution G T intron_variant ESAD-UK 3 8922997 8922997 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 8922997 8922997 single base substitution C T downstream_gene_variant ESAD-UK 3 8922997 8922997 single base substitution C T intron_variant ESAD-UK 3 8928932 8928932 single base substitution T G downstream_gene_variant ESAD-UK 3 8928932 8928932 single base substitution T G intron_variant ESAD-UK 3 8930491 8930491 single base substitution C A downstream_gene_variant ESAD-UK 3 8930491 8930491 single base substitution C A intron_variant ESAD-UK 3 8932522 8932522 single base substitution G A intron_variant ESAD-UK 3 8934935 8934935 single base substitution C T intron_variant ESAD-UK 3 8935610 8935610 single base substitution G A intron_variant ESAD-UK 3 8936809 8936809 single base substitution C A intron_variant ESAD-UK 3 8938110 8938110 deletion of <=200bp A - intron_variant ESAD-UK 3 8943076 8943076 single base substitution A T intron_variant ESAD-UK 3 8943540 8943540 single base substitution G A intron_variant ESAD-UK 3 8944715 8944715 single base substitution A C intron_variant ESAD-UK 3 8944715 8944715 single base substitution A C upstream_gene_variant ESAD-UK 3 8948476 8948476 single base substitution C G intron_variant ESAD-UK 3 8948476 8948476 single base substitution C G upstream_gene_variant ESAD-UK 3 8948477 8948477 single base substitution A T intron_variant ESAD-UK 3 8948477 8948477 single base substitution A T upstream_gene_variant ESAD-UK 3 8948904 8948904 single base substitution C T intron_variant ESAD-UK 3 8948904 8948904 single base substitution C T upstream_gene_variant ESAD-UK 3 8949957 8949957 insertion of <=200bp - T intron_variant ESAD-UK 3 8951857 8951857 single base substitution G C intron_variant ESAD-UK 3 8953439 8953439 single base substitution C T intron_variant ESAD-UK 3 8956699 8956699 deletion of <=200bp G - intron_variant ESAD-UK 3 8956699 8956699 deletion of <=200bp G - upstream_gene_variant ESAD-UK 3 8956956 8956956 single base substitution T G intron_variant ESAD-UK 3 8956956 8956956 single base substitution T G upstream_gene_variant ESAD-UK 3 8959310 8959310 single base substitution T A intron_variant ESAD-UK 3 8962736 8962736 single base substitution T G intron_variant ESAD-UK 3 8970018 8970018 single base substitution G C intron_variant ESAD-UK 3 8971001 8971001 single base substitution A T intron_variant ESAD-UK 3 8972791 8972791 single base substitution T C intron_variant ESAD-UK 3 8973067 8973067 single base substitution G A intron_variant ESAD-UK 3 8974798 8974798 deletion of <=200bp A - intron_variant ESAD-UK 3 8979890 8979890 single base substitution C T downstream_gene_variant ESAD-UK 3 8979890 8979890 single base substitution C T intron_variant ESAD-UK 3 8983497 8983497 single base substitution A G intron_variant ESAD-UK 3 8984617 8984617 single base substitution C A downstream_gene_variant ESAD-UK 3 8984617 8984617 single base substitution C A intron_variant ESAD-UK 3 8986628 8986628 single base substitution G A downstream_gene_variant ESAD-UK 3 8986628 8986628 single base substitution G A intron_variant ESAD-UK 3 8989297 8989297 single base substitution C A intron_variant ESAD-UK 3 8989347 8989347 single base substitution G T intron_variant ESAD-UK 3 8991213 8991213 single base substitution G A intron_variant ESAD-UK 3 8994254 8994254 single base substitution A C intron_variant ESAD-UK 3 8999049 8999049 deletion of <=200bp A - intron_variant ESAD-UK 3 8999710 8999710 single base substitution G C intron_variant ESAD-UK 3 9001824 9001824 single base substitution C G intron_variant ESAD-UK 3 9004839 9004839 single base substitution G C intron_variant KIRP-US 3 8955405 8955405 insertion of <=200bp - TG intron_variant KIRP-US 3 8955405 8955405 insertion of <=200bp - TG splice_acceptor_variant KIRP-US 3 8955405 8955405 insertion of <=200bp - TG upstream_gene_variant LAML-KR 3 8932189 8932189 single base substitution C T intron_variant LAML-KR 3 8969732 8969732 single base substitution T A intron_variant LICA-CN 3 8983421 8983421 single base substitution G A 3_prime_UTR_variant LICA-CN 3 8983421 8983421 single base substitution G A downstream_gene_variant LICA-CN 3 8983421 8983421 single base substitution G A exon_variant LICA-CN 3 8983421 8983421 single base substitution G A missense_variant L112F 334C>T LICA-FR 3 8813296 8813296 single base substitution A G downstream_gene_variant LICA-FR 3 8824250 8824250 insertion of <=200bp - ACAC intron_variant LICA-FR 3 8831959 8831959 single base substitution A G intron_variant LICA-FR 3 8868911 8868911 single base substitution T G intron_variant LICA-FR 3 8926087 8926087 single base substitution T G intron_variant LICA-FR 3 8949192 8949192 single base substitution C A intron_variant LICA-FR 3 8951825 8951825 single base substitution C T intron_variant LICA-FR 3 8964748 8964748 single base substitution G C intron_variant LICA-FR 3 8966630 8966630 single base substitution C T intron_variant LICA-FR 3 8966640 8966640 single base substitution C T intron_variant LICA-FR 3 8990238 8990238 single base substitution T C exon_variant LICA-FR 3 8990238 8990238 single base substitution T C intron_variant LICA-FR 3 8990238 8990238 single base substitution T C missense_variant I50M 150A>G LINC-JP 3 8812764 8812764 single base substitution T G downstream_gene_variant LINC-JP 3 8816092 8816092 single base substitution A C downstream_gene_variant LINC-JP 3 8832959 8832959 single base substitution C A intron_variant LINC-JP 3 8850238 8850238 single base substitution G T intron_variant LINC-JP 3 8872125 8872125 single base substitution C A intron_variant LINC-JP 3 8875635 8875635 single base substitution A C intron_variant LINC-JP 3 8879078 8879078 single base substitution T C intron_variant LINC-JP 3 8921240 8921240 single base substitution C A 3_prime_UTR_variant LINC-JP 3 8921240 8921240 single base substitution C A downstream_gene_variant LINC-JP 3 8921240 8921240 single base substitution C A intron_variant LINC-JP 3 8932866 8932866 single base substitution C A intron_variant LINC-JP 3 8940837 8940837 single base substitution T C intron_variant LINC-JP 3 8950189 8950189 single base substitution G C intron_variant LINC-JP 3 8957373 8957373 single base substitution T A intron_variant LINC-JP 3 8957373 8957373 single base substitution T A upstream_gene_variant LINC-JP 3 8974062 8974062 single base substitution T C intron_variant LINC-JP 3 8982609 8982609 single base substitution T G downstream_gene_variant LINC-JP 3 8982609 8982609 single base substitution T G intron_variant LINC-JP 3 8987152 8987152 single base substitution C T downstream_gene_variant LINC-JP 3 8987152 8987152 single base substitution C T intron_variant LINC-JP 3 9002866 9002866 single base substitution A G intron_variant LIRI-JP 3 8812810 8812810 single base substitution C T downstream_gene_variant LIRI-JP 3 8814392 8814392 single base substitution C T downstream_gene_variant LIRI-JP 3 8816682 8816682 single base substitution A G downstream_gene_variant LIRI-JP 3 8817647 8817647 single base substitution C T intron_variant LIRI-JP 3 8817688 8817688 single base substitution T C intron_variant LIRI-JP 3 8821659 8821659 single base substitution A T intron_variant LIRI-JP 3 8823917 8823917 single base substitution C A intron_variant LIRI-JP 3 8823919 8823919 single base substitution C A intron_variant LIRI-JP 3 8825078 8825078 single base substitution C T intron_variant LIRI-JP 3 8825580 8825580 single base substitution T C intron_variant LIRI-JP 3 8825698 8825698 single base substitution T A intron_variant LIRI-JP 3 8825754 8825754 single base substitution T C intron_variant LIRI-JP 3 8827022 8827022 single base substitution T G intron_variant LIRI-JP 3 8828663 8828663 single base substitution T C intron_variant LIRI-JP 3 8829095 8829095 single base substitution C T intron_variant LIRI-JP 3 8831500 8831500 single base substitution T C intron_variant LIRI-JP 3 8832678 8832678 single base substitution T G intron_variant LIRI-JP 3 8832679 8832679 single base substitution C T intron_variant LIRI-JP 3 8835337 8835337 single base substitution G A intron_variant LIRI-JP 3 8835568 8835568 single base substitution C T intron_variant LIRI-JP 3 8836061 8836061 single base substitution T C intron_variant LIRI-JP 3 8836277 8836277 single base substitution G A intron_variant LIRI-JP 3 8837663 8837663 single base substitution G A intron_variant LIRI-JP 3 8838667 8838667 single base substitution A G intron_variant LIRI-JP 3 8840990 8840990 single base substitution C T intron_variant LIRI-JP 3 8841079 8841079 single base substitution T A intron_variant LIRI-JP 3 8842262 8842262 single base substitution G T intron_variant LIRI-JP 3 8843017 8843017 single base substitution C T intron_variant LIRI-JP 3 8848220 8848220 single base substitution C A intron_variant LIRI-JP 3 8849529 8849529 single base substitution C T intron_variant LIRI-JP 3 8849597 8849597 single base substitution G T intron_variant LIRI-JP 3 8849811 8849811 single base substitution G C intron_variant LIRI-JP 3 8851799 8851799 single base substitution T A intron_variant LIRI-JP 3 8853640 8853640 single base substitution G C intron_variant LIRI-JP 3 8854440 8854440 single base substitution T C intron_variant LIRI-JP 3 8855158 8855158 single base substitution C T intron_variant LIRI-JP 3 8857454 8857454 single base substitution C A intron_variant LIRI-JP 3 8857800 8857800 single base substitution A G intron_variant LIRI-JP 3 8858216 8858216 single base substitution C T intron_variant LIRI-JP 3 8861978 8861978 single base substitution T G intron_variant LIRI-JP 3 8862369 8862369 single base substitution C G intron_variant LIRI-JP 3 8863371 8863371 single base substitution T C intron_variant LIRI-JP 3 8863505 8863505 single base substitution C T intron_variant LIRI-JP 3 8864765 8864765 single base substitution C A intron_variant LIRI-JP 3 8867862 8867862 single base substitution C G intron_variant LIRI-JP 3 8873368 8873368 single base substitution T C intron_variant LIRI-JP 3 8873372 8873372 single base substitution C T intron_variant LIRI-JP 3 8878515 8878515 single base substitution C A intron_variant LIRI-JP 3 8878588 8878588 single base substitution G A intron_variant LIRI-JP 3 8879849 8879849 single base substitution C A intron_variant LIRI-JP 3 8881035 8881035 single base substitution C T intron_variant LIRI-JP 3 8881835 8881835 single base substitution C A intron_variant LIRI-JP 3 8882749 8882749 single base substitution C T intron_variant LIRI-JP 3 8883269 8883269 single base substitution A G intron_variant LIRI-JP 3 8883816 8883816 single base substitution G T intron_variant LIRI-JP 3 8884482 8884482 single base substitution G C intron_variant LIRI-JP 3 8885454 8885454 single base substitution G A intron_variant LIRI-JP 3 8890427 8890427 single base substitution C A intron_variant LIRI-JP 3 8890519 8890519 single base substitution T A intron_variant LIRI-JP 3 8893539 8893539 single base substitution C T intron_variant LIRI-JP 3 8894693 8894693 single base substitution T C intron_variant LIRI-JP 3 8895716 8895716 single base substitution T A intron_variant LIRI-JP 3 8898501 8898501 single base substitution T C intron_variant LIRI-JP 3 8899638 8899638 single base substitution C T intron_variant LIRI-JP 3 8902884 8902884 single base substitution T C intron_variant LIRI-JP 3 8904320 8904320 single base substitution C G intron_variant LIRI-JP 3 8905390 8905390 single base substitution G T intron_variant LIRI-JP 3 8906156 8906156 single base substitution T C intron_variant LIRI-JP 3 8908252 8908252 single base substitution G A intron_variant LIRI-JP 3 8909404 8909404 single base substitution T C intron_variant LIRI-JP 3 8913681 8913681 single base substitution T C intron_variant LIRI-JP 3 8914209 8914209 single base substitution G C downstream_gene_variant LIRI-JP 3 8914209 8914209 single base substitution G C intron_variant LIRI-JP 3 8916153 8916153 single base substitution T G downstream_gene_variant LIRI-JP 3 8916153 8916153 single base substitution T G intron_variant LIRI-JP 3 8916427 8916427 single base substitution A T downstream_gene_variant LIRI-JP 3 8916427 8916427 single base substitution A T intron_variant LIRI-JP 3 8922114 8922114 single base substitution T G 3_prime_UTR_variant LIRI-JP 3 8922114 8922114 single base substitution T G downstream_gene_variant LIRI-JP 3 8922114 8922114 single base substitution T G intron_variant LIRI-JP 3 8922913 8922913 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 8922913 8922913 single base substitution T C downstream_gene_variant LIRI-JP 3 8922913 8922913 single base substitution T C intron_variant LIRI-JP 3 8923982 8923982 single base substitution T C intron_variant LIRI-JP 3 8925585 8925585 single base substitution T A intron_variant LIRI-JP 3 8928239 8928239 single base substitution A T downstream_gene_variant LIRI-JP 3 8928239 8928239 single base substitution A T intron_variant LIRI-JP 3 8928461 8928461 single base substitution C A downstream_gene_variant LIRI-JP 3 8928461 8928461 single base substitution C A intron_variant LIRI-JP 3 8929232 8929232 single base substitution T C downstream_gene_variant LIRI-JP 3 8929232 8929232 single base substitution T C intron_variant LIRI-JP 3 8930301 8930301 single base substitution C T downstream_gene_variant LIRI-JP 3 8930301 8930301 single base substitution C T intron_variant LIRI-JP 3 8930965 8930965 single base substitution T C downstream_gene_variant LIRI-JP 3 8930965 8930965 single base substitution T C intron_variant LIRI-JP 3 8931424 8931424 single base substitution T C downstream_gene_variant LIRI-JP 3 8931424 8931424 single base substitution T C intron_variant LIRI-JP 3 8931812 8931812 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 8931812 8931812 single base substitution T C intron_variant LIRI-JP 3 8932376 8932376 single base substitution T A intron_variant LIRI-JP 3 8934104 8934104 single base substitution T C intron_variant LIRI-JP 3 8934415 8934415 single base substitution T C intron_variant LIRI-JP 3 8935619 8935619 single base substitution C A intron_variant LIRI-JP 3 8935620 8935620 single base substitution C A intron_variant LIRI-JP 3 8938204 8938204 single base substitution G A intron_variant LIRI-JP 3 8938205 8938205 single base substitution A C intron_variant LIRI-JP 3 8938508 8938508 single base substitution T A intron_variant LIRI-JP 3 8942172 8942172 single base substitution T C intron_variant LIRI-JP 3 8944216 8944216 single base substitution A C intron_variant LIRI-JP 3 8944216 8944216 single base substitution A C upstream_gene_variant LIRI-JP 3 8945203 8945203 single base substitution G C intron_variant LIRI-JP 3 8945203 8945203 single base substitution G C upstream_gene_variant LIRI-JP 3 8945410 8945410 single base substitution T C intron_variant LIRI-JP 3 8945410 8945410 single base substitution T C upstream_gene_variant LIRI-JP 3 8946698 8946698 single base substitution T C intron_variant LIRI-JP 3 8946698 8946698 single base substitution T C upstream_gene_variant LIRI-JP 3 8949100 8949100 single base substitution C T intron_variant LIRI-JP 3 8949100 8949100 single base substitution C T upstream_gene_variant LIRI-JP 3 8949192 8949192 single base substitution C T intron_variant LIRI-JP 3 8949600 8949600 single base substitution G A intron_variant LIRI-JP 3 8950784 8950784 single base substitution C T intron_variant LIRI-JP 3 8951295 8951295 single base substitution A G intron_variant LIRI-JP 3 8953674 8953674 single base substitution C T intron_variant LIRI-JP 3 8955225 8955225 single base substitution G A intron_variant LIRI-JP 3 8955225 8955225 single base substitution G A upstream_gene_variant LIRI-JP 3 8956062 8956062 single base substitution A G intron_variant LIRI-JP 3 8956062 8956062 single base substitution A G upstream_gene_variant LIRI-JP 3 8956183 8956183 single base substitution T C intron_variant LIRI-JP 3 8956183 8956183 single base substitution T C upstream_gene_variant LIRI-JP 3 8956479 8956479 single base substitution A G intron_variant LIRI-JP 3 8956479 8956479 single base substitution A G upstream_gene_variant LIRI-JP 3 8956975 8956975 single base substitution G A intron_variant LIRI-JP 3 8956975 8956975 single base substitution G A upstream_gene_variant LIRI-JP 3 8957614 8957614 single base substitution C T intron_variant LIRI-JP 3 8957614 8957614 single base substitution C T upstream_gene_variant LIRI-JP 3 8959342 8959342 single base substitution T C intron_variant LIRI-JP 3 8959415 8959415 single base substitution G A intron_variant LIRI-JP 3 8960261 8960261 single base substitution A G intron_variant LIRI-JP 3 8961894 8961894 single base substitution C G intron_variant LIRI-JP 3 8963749 8963749 single base substitution C A intron_variant LIRI-JP 3 8969996 8969996 single base substitution C T intron_variant LIRI-JP 3 8972432 8972432 single base substitution C A intron_variant LIRI-JP 3 8972612 8972612 single base substitution A T intron_variant LIRI-JP 3 8973545 8973545 single base substitution G A intron_variant LIRI-JP 3 8973809 8973809 single base substitution T C intron_variant LIRI-JP 3 8973995 8973995 single base substitution A G intron_variant LIRI-JP 3 8978339 8978339 single base substitution T C downstream_gene_variant LIRI-JP 3 8978339 8978339 single base substitution T C intron_variant LIRI-JP 3 8981782 8981782 single base substitution G T downstream_gene_variant LIRI-JP 3 8981782 8981782 single base substitution G T intron_variant LIRI-JP 3 8981964 8981964 single base substitution A G downstream_gene_variant LIRI-JP 3 8981964 8981964 single base substitution A G intron_variant LIRI-JP 3 8981976 8981976 single base substitution T C downstream_gene_variant LIRI-JP 3 8981976 8981976 single base substitution T C intron_variant LIRI-JP 3 8983876 8983876 single base substitution T G downstream_gene_variant LIRI-JP 3 8983876 8983876 single base substitution T G intron_variant LIRI-JP 3 8986356 8986356 single base substitution G A downstream_gene_variant LIRI-JP 3 8986356 8986356 single base substitution G A intron_variant LIRI-JP 3 8987376 8987376 single base substitution G A downstream_gene_variant LIRI-JP 3 8987376 8987376 single base substitution G A intron_variant LIRI-JP 3 8988726 8988726 deletion of <=200bp A - exon_variant LIRI-JP 3 8988726 8988726 deletion of <=200bp A - intron_variant LIRI-JP 3 8990742 8990742 single base substitution T C intron_variant LIRI-JP 3 8993636 8993636 single base substitution C T intron_variant LIRI-JP 3 8999480 8999480 single base substitution C T intron_variant LIRI-JP 3 9000234 9000234 single base substitution T C intron_variant LIRI-JP 3 9000358 9000358 single base substitution A T intron_variant LIRI-JP 3 9000620 9000620 single base substitution A C exon_variant LIRI-JP 3 9000620 9000620 single base substitution A C intron_variant LIRI-JP 3 9000620 9000620 single base substitution A C synonymous_variant P39P 117T>G LIRI-JP 3 9002218 9002218 single base substitution G C intron_variant LIRI-JP 3 9003002 9003002 single base substitution G C intron_variant LIRI-JP 3 9005957 9005957 single base substitution T C upstream_gene_variant LIRI-JP 3 9006280 9006280 insertion of <=200bp - GCAAATGAAC upstream_gene_variant LUSC-KR 3 8817135 8817135 single base substitution C G 3_prime_UTR_variant LUSC-KR 3 8822935 8822935 single base substitution T C intron_variant LUSC-KR 3 8825227 8825227 single base substitution C T intron_variant LUSC-KR 3 8832416 8832416 single base substitution A G intron_variant LUSC-KR 3 8835287 8835287 single base substitution T C intron_variant LUSC-KR 3 8837961 8837961 single base substitution T A intron_variant LUSC-KR 3 8839429 8839429 single base substitution G T intron_variant LUSC-KR 3 8844617 8844617 single base substitution G C intron_variant LUSC-KR 3 8853919 8853919 single base substitution T C intron_variant LUSC-KR 3 8855809 8855809 single base substitution C A intron_variant LUSC-KR 3 8862824 8862824 single base substitution C A intron_variant LUSC-KR 3 8864518 8864518 single base substitution C A intron_variant LUSC-KR 3 8868804 8868804 single base substitution G A intron_variant LUSC-KR 3 8869935 8869935 single base substitution C T intron_variant LUSC-KR 3 8870201 8870201 single base substitution A C intron_variant LUSC-KR 3 8874720 8874720 single base substitution T A intron_variant LUSC-KR 3 8880362 8880362 single base substitution T A intron_variant LUSC-KR 3 8894218 8894218 single base substitution C T intron_variant LUSC-KR 3 8906223 8906223 single base substitution G T intron_variant LUSC-KR 3 8913761 8913761 single base substitution T A downstream_gene_variant LUSC-KR 3 8913761 8913761 single base substitution T A intron_variant LUSC-KR 3 8919397 8919397 single base substitution A G 3_prime_UTR_variant LUSC-KR 3 8919397 8919397 single base substitution A G downstream_gene_variant LUSC-KR 3 8919397 8919397 single base substitution A G intron_variant LUSC-KR 3 8921052 8921052 single base substitution T A 3_prime_UTR_variant LUSC-KR 3 8921052 8921052 single base substitution T A downstream_gene_variant LUSC-KR 3 8921052 8921052 single base substitution T A intron_variant LUSC-KR 3 8926515 8926515 single base substitution C G intron_variant LUSC-KR 3 8927064 8927064 single base substitution G A downstream_gene_variant LUSC-KR 3 8927064 8927064 single base substitution G A intron_variant LUSC-KR 3 8930396 8930396 single base substitution G A downstream_gene_variant LUSC-KR 3 8930396 8930396 single base substitution G A intron_variant LUSC-KR 3 8940765 8940765 single base substitution T C intron_variant LUSC-KR 3 8942540 8942540 single base substitution G C intron_variant LUSC-KR 3 8951423 8951423 single base substitution A G intron_variant LUSC-KR 3 8954287 8954287 single base substitution C G intron_variant LUSC-KR 3 8954287 8954287 single base substitution C G upstream_gene_variant LUSC-KR 3 8955130 8955130 single base substitution C A intron_variant LUSC-KR 3 8955130 8955130 single base substitution C A upstream_gene_variant LUSC-KR 3 8966225 8966225 single base substitution T C intron_variant LUSC-KR 3 8966260 8966260 single base substitution C T intron_variant LUSC-KR 3 8966519 8966519 single base substitution A T intron_variant LUSC-KR 3 8976310 8976310 single base substitution C G intron_variant LUSC-KR 3 8988809 8988809 single base substitution C T exon_variant LUSC-KR 3 8988809 8988809 single base substitution C T intron_variant LUSC-KR 3 8989541 8989541 single base substitution G A intron_variant LUSC-KR 3 8990730 8990730 single base substitution C A intron_variant LUSC-KR 3 9008282 9008282 single base substitution G T upstream_gene_variant LUSC-KR 3 9008380 9008380 single base substitution C G upstream_gene_variant LUSC-KR 3 9008974 9008974 single base substitution G T upstream_gene_variant LUSC-US 3 8940593 8940593 single base substitution G T 3_prime_UTR_variant LUSC-US 3 8940593 8940593 single base substitution G T exon_variant LUSC-US 3 8940593 8940593 single base substitution G T stop_gained S436* 1307C>A LUSC-US 3 8940593 8940593 single base substitution G T stop_gained S53* 158C>A LUSC-US 3 8940593 8940593 single base substitution G T stop_gained S72* 215C>A MALY-DE 3 8813282 8813282 deletion of <=200bp A - downstream_gene_variant MALY-DE 3 8835448 8835448 single base substitution A G intron_variant MALY-DE 3 8849667 8849667 single base substitution G A intron_variant MALY-DE 3 8859924 8859924 single base substitution T G intron_variant MALY-DE 3 8861480 8861480 single base substitution T C intron_variant MALY-DE 3 8862066 8862066 single base substitution A C intron_variant MALY-DE 3 8868433 8868434 deletion of <=200bp AT - intron_variant MALY-DE 3 8876318 8876318 single base substitution T C intron_variant MALY-DE 3 8878196 8878196 single base substitution T G intron_variant MALY-DE 3 8882993 8882993 single base substitution C T intron_variant MALY-DE 3 8884202 8884202 single base substitution C T intron_variant MALY-DE 3 8891489 8891489 single base substitution T C intron_variant MALY-DE 3 8902771 8902771 single base substitution G A intron_variant MALY-DE 3 8914229 8914229 single base substitution G A downstream_gene_variant MALY-DE 3 8914229 8914229 single base substitution G A intron_variant MALY-DE 3 8930551 8930551 single base substitution A G downstream_gene_variant MALY-DE 3 8930551 8930551 single base substitution A G intron_variant MALY-DE 3 8935711 8935711 single base substitution A C intron_variant MALY-DE 3 8956276 8956276 single base substitution A G intron_variant MALY-DE 3 8956276 8956276 single base substitution A G upstream_gene_variant MALY-DE 3 8964766 8964766 single base substitution G A intron_variant MALY-DE 3 8968257 8968257 single base substitution G A intron_variant MALY-DE 3 8984185 8984185 single base substitution A C downstream_gene_variant MALY-DE 3 8984185 8984185 single base substitution A C intron_variant MALY-DE 3 8985286 8985286 single base substitution A C downstream_gene_variant MALY-DE 3 8985286 8985286 single base substitution A C intron_variant MALY-DE 3 8996137 8996137 single base substitution A G intron_variant MALY-DE 3 8996143 8996143 single base substitution A G intron_variant MALY-DE 3 8997782 8997782 single base substitution A G intron_variant MALY-DE 3 8997787 8997787 single base substitution A T intron_variant MALY-DE 3 8999203 8999203 single base substitution A T intron_variant MALY-DE 3 9002507 9002507 single base substitution T C intron_variant MALY-DE 3 9004715 9004715 single base substitution C T intron_variant MELA-AU 3 8812535 8812535 single base substitution G A downstream_gene_variant MELA-AU 3 8812687 8812687 single base substitution C T downstream_gene_variant MELA-AU 3 8813269 8813269 single base substitution G A downstream_gene_variant MELA-AU 3 8813511 8813511 single base substitution G A downstream_gene_variant MELA-AU 3 8813631 8813631 single base substitution G A downstream_gene_variant MELA-AU 3 8813791 8813791 single base substitution G A downstream_gene_variant MELA-AU 3 8813873 8813873 single base substitution G A downstream_gene_variant MELA-AU 3 8813886 8813886 single base substitution G A downstream_gene_variant MELA-AU 3 8814002 8814002 single base substitution G A downstream_gene_variant MELA-AU 3 8814207 8814207 single base substitution G A downstream_gene_variant MELA-AU 3 8814328 8814328 single base substitution G A downstream_gene_variant MELA-AU 3 8814458 8814458 single base substitution C T downstream_gene_variant MELA-AU 3 8814691 8814691 single base substitution C T downstream_gene_variant MELA-AU 3 8814748 8814748 single base substitution G A downstream_gene_variant MELA-AU 3 8814843 8814843 single base substitution A C downstream_gene_variant MELA-AU 3 8814969 8814969 single base substitution A G downstream_gene_variant MELA-AU 3 8815233 8815233 single base substitution G A downstream_gene_variant MELA-AU 3 8815427 8815427 single base substitution A G downstream_gene_variant MELA-AU 3 8815673 8815673 single base substitution C T downstream_gene_variant MELA-AU 3 8815715 8815715 single base substitution G A downstream_gene_variant MELA-AU 3 8815779 8815779 single base substitution G A downstream_gene_variant MELA-AU 3 8815873 8815873 single base substitution C T downstream_gene_variant MELA-AU 3 8815955 8815955 single base substitution C T downstream_gene_variant MELA-AU 3 8816408 8816408 single base substitution C T downstream_gene_variant MELA-AU 3 8816554 8816554 single base substitution G A downstream_gene_variant MELA-AU 3 8816704 8816704 single base substitution G A downstream_gene_variant MELA-AU 3 8817023 8817023 single base substitution G A downstream_gene_variant MELA-AU 3 8817119 8817119 single base substitution A G 3_prime_UTR_variant MELA-AU 3 8817175 8817175 single base substitution C T 3_prime_UTR_variant MELA-AU 3 8817246 8817246 single base substitution G T 3_prime_UTR_variant MELA-AU 3 8817497 8817497 single base substitution G A intron_variant MELA-AU 3 8817537 8817537 single base substitution G A intron_variant MELA-AU 3 8817569 8817569 single base substitution G A intron_variant MELA-AU 3 8817661 8817661 single base substitution G A intron_variant MELA-AU 3 8817681 8817681 single base substitution A G intron_variant MELA-AU 3 8817688 8817688 deletion of <=200bp T - intron_variant MELA-AU 3 8817762 8817762 single base substitution G A intron_variant MELA-AU 3 8817806 8817806 single base substitution G A intron_variant MELA-AU 3 8818284 8818284 single base substitution G A intron_variant MELA-AU 3 8818408 8818408 single base substitution G A intron_variant MELA-AU 3 8818536 8818536 single base substitution C T intron_variant MELA-AU 3 8818558 8818558 single base substitution G A intron_variant MELA-AU 3 8818977 8818977 single base substitution C T intron_variant MELA-AU 3 8819052 8819052 single base substitution G A intron_variant MELA-AU 3 8819198 8819198 single base substitution A G intron_variant MELA-AU 3 8819345 8819345 single base substitution G A intron_variant MELA-AU 3 8819442 8819442 single base substitution G A intron_variant MELA-AU 3 8819883 8819883 single base substitution C T intron_variant MELA-AU 3 8819895 8819895 single base substitution G A intron_variant MELA-AU 3 8820590 8820590 single base substitution G A intron_variant MELA-AU 3 8820703 8820703 single base substitution G A intron_variant MELA-AU 3 8820725 8820725 single base substitution C T intron_variant MELA-AU 3 8820738 8820738 single base substitution C T intron_variant MELA-AU 3 8820769 8820769 single base substitution C T intron_variant MELA-AU 3 8820794 8820794 single base substitution G A intron_variant MELA-AU 3 8821182 8821182 single base substitution C T intron_variant MELA-AU 3 8821460 8821460 single base substitution G A intron_variant MELA-AU 3 8822147 8822147 single base substitution G A intron_variant MELA-AU 3 8822337 8822337 single base substitution G A intron_variant MELA-AU 3 8822338 8822338 single base substitution G A intron_variant MELA-AU 3 8822558 8822558 single base substitution G A intron_variant MELA-AU 3 8822644 8822644 single base substitution C T intron_variant MELA-AU 3 8822799 8822799 single base substitution C T intron_variant MELA-AU 3 8822828 8822828 single base substitution C T intron_variant MELA-AU 3 8823388 8823388 single base substitution C G intron_variant MELA-AU 3 8823439 8823439 single base substitution G A intron_variant MELA-AU 3 8823565 8823565 single base substitution G A intron_variant MELA-AU 3 8824006 8824006 single base substitution G A intron_variant MELA-AU 3 8824364 8824364 single base substitution G A intron_variant MELA-AU 3 8824437 8824437 single base substitution G A intron_variant MELA-AU 3 8826196 8826196 single base substitution G A intron_variant MELA-AU 3 8826237 8826237 single base substitution G A intron_variant MELA-AU 3 8826245 8826245 single base substitution G A intron_variant MELA-AU 3 8826251 8826251 single base substitution G A intron_variant MELA-AU 3 8826498 8826498 single base substitution G A intron_variant MELA-AU 3 8827540 8827540 single base substitution C T intron_variant MELA-AU 3 8827564 8827564 single base substitution G A intron_variant MELA-AU 3 8827594 8827594 single base substitution G A intron_variant MELA-AU 3 8827607 8827607 single base substitution G A intron_variant MELA-AU 3 8827653 8827653 single base substitution G A intron_variant MELA-AU 3 8828062 8828062 single base substitution G A intron_variant MELA-AU 3 8828616 8828616 single base substitution G A intron_variant MELA-AU 3 8828699 8828699 single base substitution C T intron_variant MELA-AU 3 8828761 8828761 single base substitution C T intron_variant MELA-AU 3 8828899 8828899 single base substitution C T intron_variant MELA-AU 3 8828989 8828997 deletion of <=200bp TTTTATAGT - intron_variant MELA-AU 3 8829170 8829170 single base substitution C T intron_variant MELA-AU 3 8829391 8829391 single base substitution C T intron_variant MELA-AU 3 8829452 8829452 single base substitution G A intron_variant MELA-AU 3 8829590 8829590 single base substitution A C intron_variant MELA-AU 3 8830060 8830060 single base substitution C T intron_variant MELA-AU 3 8830249 8830249 single base substitution G A intron_variant MELA-AU 3 8830633 8830633 single base substitution C T intron_variant MELA-AU 3 8830638 8830638 single base substitution G A intron_variant MELA-AU 3 8830730 8830730 single base substitution G A intron_variant MELA-AU 3 8831029 8831029 single base substitution C T intron_variant MELA-AU 3 8831054 8831054 single base substitution C T intron_variant MELA-AU 3 8831063 8831063 single base substitution G A intron_variant MELA-AU 3 8831263 8831263 single base substitution C T intron_variant MELA-AU 3 8831304 8831304 single base substitution G A intron_variant MELA-AU 3 8831404 8831404 single base substitution G A intron_variant MELA-AU 3 8831724 8831724 single base substitution G A intron_variant MELA-AU 3 8831983 8831983 single base substitution C T intron_variant MELA-AU 3 8832147 8832147 single base substitution G A intron_variant MELA-AU 3 8832357 8832357 single base substitution C T intron_variant MELA-AU 3 8832452 8832452 single base substitution C T intron_variant MELA-AU 3 8832462 8832462 single base substitution G A intron_variant MELA-AU 3 8832589 8832589 single base substitution G A intron_variant MELA-AU 3 8832591 8832591 single base substitution A C intron_variant MELA-AU 3 8832623 8832623 single base substitution G A intron_variant MELA-AU 3 8832643 8832643 single base substitution G A intron_variant MELA-AU 3 8832744 8832744 single base substitution G A intron_variant MELA-AU 3 8832827 8832827 single base substitution C T intron_variant MELA-AU 3 8832928 8832928 single base substitution G A intron_variant MELA-AU 3 8833305 8833305 single base substitution T C intron_variant MELA-AU 3 8833493 8833493 single base substitution G A intron_variant MELA-AU 3 8833497 8833497 single base substitution G A intron_variant MELA-AU 3 8833641 8833641 single base substitution C T intron_variant MELA-AU 3 8834226 8834226 single base substitution G A intron_variant MELA-AU 3 8834284 8834284 single base substitution G A intron_variant MELA-AU 3 8834301 8834301 single base substitution G A intron_variant MELA-AU 3 8834615 8834615 single base substitution G A intron_variant MELA-AU 3 8834685 8834685 single base substitution G T intron_variant MELA-AU 3 8834776 8834776 single base substitution C T intron_variant MELA-AU 3 8834796 8834797 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 8834883 8834883 single base substitution G A intron_variant MELA-AU 3 8834966 8834966 single base substitution G A intron_variant MELA-AU 3 8835495 8835495 single base substitution C T intron_variant MELA-AU 3 8835589 8835589 single base substitution G A intron_variant MELA-AU 3 8836277 8836277 single base substitution G A intron_variant MELA-AU 3 8836479 8836479 single base substitution G A intron_variant MELA-AU 3 8836501 8836501 single base substitution G A intron_variant MELA-AU 3 8836515 8836515 single base substitution G A intron_variant MELA-AU 3 8836866 8836866 single base substitution G A intron_variant MELA-AU 3 8836887 8836887 single base substitution G A intron_variant MELA-AU 3 8836914 8836914 single base substitution G A intron_variant MELA-AU 3 8836951 8836951 single base substitution G A intron_variant MELA-AU 3 8836987 8836987 single base substitution G A intron_variant MELA-AU 3 8837488 8837488 single base substitution G A intron_variant MELA-AU 3 8837622 8837622 single base substitution G A intron_variant MELA-AU 3 8837919 8837919 single base substitution C T intron_variant MELA-AU 3 8837988 8837988 single base substitution C T intron_variant MELA-AU 3 8838028 8838028 single base substitution G A intron_variant MELA-AU 3 8838123 8838123 single base substitution G A intron_variant MELA-AU 3 8838556 8838556 single base substitution G A intron_variant MELA-AU 3 8838563 8838563 single base substitution G A intron_variant MELA-AU 3 8838564 8838564 single base substitution G A intron_variant MELA-AU 3 8838777 8838777 single base substitution G A intron_variant MELA-AU 3 8838812 8838812 single base substitution G A intron_variant MELA-AU 3 8838813 8838813 single base substitution G A intron_variant MELA-AU 3 8838907 8838907 single base substitution C T intron_variant MELA-AU 3 8839218 8839218 single base substitution G A intron_variant MELA-AU 3 8839243 8839243 single base substitution G A intron_variant MELA-AU 3 8839743 8839743 single base substitution T G intron_variant MELA-AU 3 8839868 8839868 single base substitution G A intron_variant MELA-AU 3 8839872 8839872 single base substitution G A intron_variant MELA-AU 3 8840178 8840178 single base substitution G A intron_variant MELA-AU 3 8840219 8840219 single base substitution C T intron_variant MELA-AU 3 8840312 8840312 single base substitution G A intron_variant MELA-AU 3 8840497 8840497 single base substitution G A intron_variant MELA-AU 3 8840543 8840543 single base substitution C T intron_variant MELA-AU 3 8840592 8840592 single base substitution G A intron_variant MELA-AU 3 8840678 8840678 single base substitution G T intron_variant MELA-AU 3 8840682 8840682 single base substitution G T intron_variant MELA-AU 3 8840985 8840985 single base substitution G A intron_variant MELA-AU 3 8841035 8841035 single base substitution A T intron_variant MELA-AU 3 8841122 8841122 single base substitution C T intron_variant MELA-AU 3 8841198 8841198 single base substitution A G intron_variant MELA-AU 3 8841498 8841498 single base substitution T C intron_variant MELA-AU 3 8841515 8841515 single base substitution G A intron_variant MELA-AU 3 8841690 8841690 single base substitution G A intron_variant MELA-AU 3 8841711 8841711 single base substitution G A intron_variant MELA-AU 3 8841763 8841763 single base substitution G A intron_variant MELA-AU 3 8841773 8841773 single base substitution C T intron_variant MELA-AU 3 8841807 8841807 single base substitution G A intron_variant MELA-AU 3 8842088 8842089 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 8842089 8842089 single base substitution G A intron_variant MELA-AU 3 8842330 8842330 single base substitution G A intron_variant MELA-AU 3 8842369 8842369 single base substitution G A intron_variant MELA-AU 3 8842461 8842461 single base substitution G A intron_variant MELA-AU 3 8842494 8842494 single base substitution G A intron_variant MELA-AU 3 8842550 8842550 single base substitution C T intron_variant MELA-AU 3 8842736 8842736 single base substitution G A intron_variant MELA-AU 3 8842744 8842744 single base substitution G A intron_variant MELA-AU 3 8843078 8843078 single base substitution C T intron_variant MELA-AU 3 8843379 8843379 single base substitution A C intron_variant MELA-AU 3 8843505 8843505 single base substitution C T intron_variant MELA-AU 3 8843676 8843676 single base substitution G A intron_variant MELA-AU 3 8843680 8843680 single base substitution G A intron_variant MELA-AU 3 8843954 8843954 single base substitution C T intron_variant MELA-AU 3 8844091 8844091 single base substitution C T intron_variant MELA-AU 3 8844283 8844283 single base substitution C T intron_variant MELA-AU 3 8844393 8844393 single base substitution C T intron_variant MELA-AU 3 8845325 8845325 single base substitution A T intron_variant MELA-AU 3 8845357 8845357 single base substitution C T intron_variant MELA-AU 3 8845773 8845773 single base substitution A G intron_variant MELA-AU 3 8846229 8846229 single base substitution G A intron_variant MELA-AU 3 8846365 8846365 single base substitution G A intron_variant MELA-AU 3 8846624 8846624 single base substitution G A intron_variant MELA-AU 3 8846640 8846640 single base substitution T A intron_variant MELA-AU 3 8846641 8846641 single base substitution C T intron_variant MELA-AU 3 8846737 8846737 single base substitution G A intron_variant MELA-AU 3 8846900 8846900 single base substitution T A intron_variant MELA-AU 3 8846923 8846923 single base substitution G A intron_variant MELA-AU 3 8847298 8847298 single base substitution G A intron_variant MELA-AU 3 8847482 8847482 single base substitution A G intron_variant MELA-AU 3 8847587 8847587 single base substitution G A intron_variant MELA-AU 3 8847704 8847704 single base substitution G A intron_variant MELA-AU 3 8847896 8847896 single base substitution G A intron_variant MELA-AU 3 8848468 8848468 single base substitution G A intron_variant MELA-AU 3 8849147 8849147 single base substitution G A intron_variant MELA-AU 3 8849152 8849152 single base substitution G A intron_variant MELA-AU 3 8849330 8849330 single base substitution C T intron_variant MELA-AU 3 8849717 8849717 single base substitution G A intron_variant MELA-AU 3 8849729 8849729 single base substitution A C intron_variant MELA-AU 3 8850186 8850186 single base substitution C A intron_variant MELA-AU 3 8850232 8850232 single base substitution G A intron_variant MELA-AU 3 8850318 8850318 single base substitution G A intron_variant MELA-AU 3 8850415 8850415 single base substitution G A intron_variant MELA-AU 3 8850598 8850598 single base substitution G A intron_variant MELA-AU 3 8850658 8850658 single base substitution G A intron_variant MELA-AU 3 8851812 8851812 single base substitution G A intron_variant MELA-AU 3 8851989 8851989 single base substitution G T intron_variant MELA-AU 3 8852078 8852078 single base substitution G C intron_variant MELA-AU 3 8852099 8852099 single base substitution C T intron_variant MELA-AU 3 8852149 8852149 single base substitution G A intron_variant MELA-AU 3 8852861 8852861 single base substitution G A intron_variant MELA-AU 3 8852868 8852868 single base substitution C T intron_variant MELA-AU 3 8852877 8852877 single base substitution C T intron_variant MELA-AU 3 8852968 8852968 single base substitution G A intron_variant MELA-AU 3 8853109 8853109 single base substitution G A intron_variant MELA-AU 3 8853210 8853210 single base substitution G A intron_variant MELA-AU 3 8853365 8853365 single base substitution G A intron_variant MELA-AU 3 8853726 8853726 single base substitution G A intron_variant MELA-AU 3 8853755 8853755 single base substitution A T intron_variant MELA-AU 3 8853784 8853784 single base substitution G A intron_variant MELA-AU 3 8853844 8853844 single base substitution G A intron_variant MELA-AU 3 8853936 8853936 single base substitution G A intron_variant MELA-AU 3 8854105 8854105 single base substitution G A intron_variant MELA-AU 3 8854387 8854387 single base substitution G A intron_variant MELA-AU 3 8854587 8854587 single base substitution G A intron_variant MELA-AU 3 8854650 8854650 single base substitution C T intron_variant MELA-AU 3 8854657 8854657 single base substitution C T intron_variant MELA-AU 3 8854693 8854693 single base substitution C T intron_variant MELA-AU 3 8854803 8854803 single base substitution G A intron_variant MELA-AU 3 8854841 8854841 single base substitution G A intron_variant MELA-AU 3 8855027 8855027 single base substitution C T intron_variant MELA-AU 3 8855286 8855286 single base substitution G A intron_variant MELA-AU 3 8855529 8855529 single base substitution G A intron_variant MELA-AU 3 8855656 8855656 single base substitution G A intron_variant MELA-AU 3 8855921 8855921 single base substitution G A intron_variant MELA-AU 3 8856047 8856047 single base substitution C T intron_variant MELA-AU 3 8856313 8856313 single base substitution C T intron_variant MELA-AU 3 8856350 8856350 single base substitution C T intron_variant MELA-AU 3 8856677 8856677 single base substitution G A intron_variant MELA-AU 3 8856835 8856835 single base substitution G A intron_variant MELA-AU 3 8856901 8856901 single base substitution G A intron_variant MELA-AU 3 8856966 8856966 single base substitution G A intron_variant MELA-AU 3 8857203 8857203 single base substitution G A intron_variant MELA-AU 3 8857507 8857507 single base substitution G A intron_variant MELA-AU 3 8857803 8857803 single base substitution A G intron_variant MELA-AU 3 8857824 8857824 single base substitution G A intron_variant MELA-AU 3 8858499 8858499 single base substitution G A intron_variant MELA-AU 3 8858761 8858761 single base substitution G A intron_variant MELA-AU 3 8858823 8858823 single base substitution G A intron_variant MELA-AU 3 8858953 8858953 single base substitution G A intron_variant MELA-AU 3 8859189 8859189 single base substitution G A intron_variant MELA-AU 3 8859349 8859349 single base substitution G A intron_variant MELA-AU 3 8859540 8859540 single base substitution G A intron_variant MELA-AU 3 8859699 8859700 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 8859806 8859806 single base substitution C T intron_variant MELA-AU 3 8860056 8860056 single base substitution T A intron_variant MELA-AU 3 8860186 8860186 single base substitution G A intron_variant MELA-AU 3 8860348 8860348 single base substitution G A intron_variant MELA-AU 3 8860493 8860493 single base substitution G A intron_variant MELA-AU 3 8860503 8860503 single base substitution G A intron_variant MELA-AU 3 8860646 8860646 single base substitution G A intron_variant MELA-AU 3 8861378 8861378 single base substitution G A intron_variant MELA-AU 3 8861404 8861404 single base substitution G A intron_variant MELA-AU 3 8861638 8861638 single base substitution G A intron_variant MELA-AU 3 8861781 8861781 single base substitution G A intron_variant MELA-AU 3 8862488 8862488 single base substitution G A intron_variant MELA-AU 3 8862766 8862766 single base substitution C T intron_variant MELA-AU 3 8862867 8862867 single base substitution G A intron_variant MELA-AU 3 8863091 8863091 single base substitution G A intron_variant MELA-AU 3 8863109 8863109 single base substitution C T intron_variant MELA-AU 3 8863183 8863183 single base substitution G A intron_variant MELA-AU 3 8863565 8863565 single base substitution G A intron_variant MELA-AU 3 8863640 8863640 single base substitution C T intron_variant MELA-AU 3 8863833 8863833 single base substitution G A intron_variant MELA-AU 3 8864233 8864234 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 3 8864300 8864300 single base substitution A G intron_variant MELA-AU 3 8864460 8864460 single base substitution G A intron_variant MELA-AU 3 8864534 8864534 single base substitution G A intron_variant MELA-AU 3 8864586 8864586 single base substitution C T intron_variant MELA-AU 3 8864866 8864866 single base substitution G A intron_variant MELA-AU 3 8865003 8865003 single base substitution A G intron_variant MELA-AU 3 8865392 8865392 single base substitution G A intron_variant MELA-AU 3 8865451 8865451 single base substitution G A intron_variant MELA-AU 3 8865667 8865667 single base substitution T C intron_variant MELA-AU 3 8865682 8865682 single base substitution A G intron_variant MELA-AU 3 8865699 8865699 single base substitution G T intron_variant MELA-AU 3 8866091 8866091 single base substitution G A intron_variant MELA-AU 3 8866299 8866299 single base substitution G A intron_variant MELA-AU 3 8866501 8866501 single base substitution G A intron_variant MELA-AU 3 8866520 8866520 single base substitution C T intron_variant MELA-AU 3 8866607 8866607 single base substitution G A intron_variant MELA-AU 3 8867303 8867304 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 8867483 8867483 single base substitution G A intron_variant MELA-AU 3 8867512 8867512 single base substitution G A intron_variant MELA-AU 3 8867677 8867677 single base substitution G A intron_variant MELA-AU 3 8868203 8868203 single base substitution A G intron_variant MELA-AU 3 8868237 8868237 single base substitution A T intron_variant MELA-AU 3 8868479 8868479 single base substitution G A intron_variant MELA-AU 3 8868505 8868505 single base substitution C T intron_variant MELA-AU 3 8868624 8868624 single base substitution T C intron_variant MELA-AU 3 8868814 8868814 single base substitution G A intron_variant MELA-AU 3 8868862 8868862 single base substitution G A intron_variant MELA-AU 3 8869200 8869200 single base substitution G A intron_variant MELA-AU 3 8869298 8869298 single base substitution G A intron_variant MELA-AU 3 8869440 8869440 single base substitution G A intron_variant MELA-AU 3 8869486 8869486 single base substitution T C intron_variant MELA-AU 3 8869703 8869703 single base substitution G A intron_variant MELA-AU 3 8869870 8869870 single base substitution T C intron_variant MELA-AU 3 8870098 8870098 single base substitution G A intron_variant MELA-AU 3 8870229 8870229 single base substitution A T intron_variant MELA-AU 3 8870235 8870235 single base substitution G A intron_variant MELA-AU 3 8870465 8870465 single base substitution G A intron_variant MELA-AU 3 8870713 8870713 single base substitution G A intron_variant MELA-AU 3 8871643 8871643 single base substitution G A intron_variant MELA-AU 3 8871845 8871845 single base substitution G A intron_variant MELA-AU 3 8871954 8871954 single base substitution G A intron_variant MELA-AU 3 8871968 8871968 single base substitution G A intron_variant MELA-AU 3 8872039 8872040 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 8872074 8872074 single base substitution G A intron_variant MELA-AU 3 8872160 8872160 single base substitution C T intron_variant MELA-AU 3 8872612 8872612 single base substitution G A intron_variant MELA-AU 3 8873241 8873241 single base substitution G A intron_variant MELA-AU 3 8874002 8874002 single base substitution A C intron_variant MELA-AU 3 8874079 8874079 single base substitution T G intron_variant MELA-AU 3 8874142 8874142 single base substitution G A intron_variant MELA-AU 3 8874402 8874402 single base substitution G A intron_variant MELA-AU 3 8874849 8874849 single base substitution A T intron_variant MELA-AU 3 8875096 8875096 single base substitution G A intron_variant MELA-AU 3 8875684 8875684 single base substitution G A intron_variant MELA-AU 3 8875685 8875685 single base substitution G A intron_variant MELA-AU 3 8875734 8875734 single base substitution G A intron_variant MELA-AU 3 8875911 8875911 single base substitution G A intron_variant MELA-AU 3 8875944 8875944 single base substitution G A intron_variant MELA-AU 3 8875960 8875960 single base substitution G A intron_variant MELA-AU 3 8876162 8876162 single base substitution A T intron_variant MELA-AU 3 8876170 8876170 single base substitution G A intron_variant MELA-AU 3 8876365 8876365 single base substitution G A intron_variant MELA-AU 3 8876450 8876450 single base substitution C T intron_variant MELA-AU 3 8876477 8876477 single base substitution C T intron_variant MELA-AU 3 8876500 8876500 single base substitution G A intron_variant MELA-AU 3 8876573 8876573 single base substitution G A intron_variant MELA-AU 3 8876645 8876645 single base substitution C T intron_variant MELA-AU 3 8876665 8876665 single base substitution C A intron_variant MELA-AU 3 8876709 8876709 single base substitution A G intron_variant MELA-AU 3 8877023 8877023 single base substitution G A intron_variant MELA-AU 3 8877160 8877160 single base substitution G A intron_variant MELA-AU 3 8877186 8877186 single base substitution G A intron_variant MELA-AU 3 8877456 8877456 single base substitution G A intron_variant MELA-AU 3 8877475 8877475 single base substitution G A intron_variant MELA-AU 3 8877488 8877488 single base substitution G A intron_variant MELA-AU 3 8877541 8877541 single base substitution G A intron_variant MELA-AU 3 8877703 8877703 single base substitution G A intron_variant MELA-AU 3 8877704 8877704 single base substitution G A intron_variant MELA-AU 3 8878209 8878209 single base substitution G A intron_variant MELA-AU 3 8878327 8878327 single base substitution G A intron_variant MELA-AU 3 8878365 8878365 single base substitution G A intron_variant MELA-AU 3 8878450 8878450 single base substitution G A intron_variant MELA-AU 3 8878606 8878606 single base substitution C T intron_variant MELA-AU 3 8879345 8879345 single base substitution G A intron_variant MELA-AU 3 8879505 8879505 single base substitution G A intron_variant MELA-AU 3 8879612 8879612 single base substitution G A intron_variant MELA-AU 3 8879653 8879653 single base substitution G A intron_variant MELA-AU 3 8880086 8880086 single base substitution G A intron_variant MELA-AU 3 8880358 8880358 single base substitution C T intron_variant MELA-AU 3 8880514 8880514 single base substitution C T intron_variant MELA-AU 3 8880910 8880910 single base substitution G A intron_variant MELA-AU 3 8881043 8881043 single base substitution G A intron_variant MELA-AU 3 8881154 8881154 single base substitution G A intron_variant MELA-AU 3 8881167 8881167 single base substitution G A intron_variant MELA-AU 3 8881427 8881427 single base substitution C T intron_variant MELA-AU 3 8881980 8881980 single base substitution C T intron_variant MELA-AU 3 8882081 8882081 single base substitution C T intron_variant MELA-AU 3 8882679 8882679 single base substitution G A intron_variant MELA-AU 3 8882974 8882974 single base substitution G A intron_variant MELA-AU 3 8883118 8883118 single base substitution G A intron_variant MELA-AU 3 8883503 8883503 single base substitution A G intron_variant MELA-AU 3 8883694 8883694 single base substitution G A intron_variant MELA-AU 3 8883829 8883829 single base substitution G A intron_variant MELA-AU 3 8884101 8884101 single base substitution C T intron_variant MELA-AU 3 8884218 8884218 single base substitution C T intron_variant MELA-AU 3 8884649 8884649 single base substitution G A intron_variant MELA-AU 3 8884684 8884684 single base substitution G A intron_variant MELA-AU 3 8885037 8885037 single base substitution C A intron_variant MELA-AU 3 8885717 8885717 single base substitution G T intron_variant MELA-AU 3 8885767 8885767 single base substitution G A intron_variant MELA-AU 3 8886083 8886083 single base substitution G A intron_variant MELA-AU 3 8886564 8886564 single base substitution G A intron_variant MELA-AU 3 8886578 8886578 single base substitution C T intron_variant MELA-AU 3 8886602 8886602 single base substitution G A intron_variant MELA-AU 3 8886604 8886604 single base substitution G A intron_variant MELA-AU 3 8886874 8886874 single base substitution A G intron_variant MELA-AU 3 8886915 8886915 single base substitution G A intron_variant MELA-AU 3 8887024 8887024 single base substitution G A intron_variant MELA-AU 3 8887425 8887425 single base substitution G A intron_variant MELA-AU 3 8887620 8887620 single base substitution G A intron_variant MELA-AU 3 8887927 8887927 single base substitution G A intron_variant MELA-AU 3 8888012 8888012 single base substitution G A intron_variant MELA-AU 3 8888435 8888435 single base substitution C A intron_variant MELA-AU 3 8888599 8888600 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 3 8888920 8888920 single base substitution G A intron_variant MELA-AU 3 8889057 8889057 single base substitution A T intron_variant MELA-AU 3 8889138 8889138 single base substitution G A intron_variant MELA-AU 3 8889755 8889755 single base substitution G A intron_variant MELA-AU 3 8890593 8890593 single base substitution A C intron_variant MELA-AU 3 8891023 8891023 single base substitution G A intron_variant MELA-AU 3 8891053 8891053 single base substitution G A intron_variant MELA-AU 3 8891575 8891575 single base substitution G A intron_variant MELA-AU 3 8891843 8891843 single base substitution C T intron_variant MELA-AU 3 8892705 8892705 single base substitution G A intron_variant MELA-AU 3 8892742 8892742 single base substitution G A intron_variant MELA-AU 3 8892768 8892768 single base substitution G A intron_variant MELA-AU 3 8892785 8892785 single base substitution C T intron_variant MELA-AU 3 8892887 8892887 single base substitution G A intron_variant MELA-AU 3 8893097 8893097 single base substitution G A intron_variant MELA-AU 3 8893286 8893287 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 8893432 8893432 single base substitution C T intron_variant MELA-AU 3 8893569 8893569 single base substitution G A intron_variant MELA-AU 3 8893624 8893624 single base substitution A G intron_variant MELA-AU 3 8893645 8893645 single base substitution C G intron_variant MELA-AU 3 8893687 8893687 single base substitution G A intron_variant MELA-AU 3 8893819 8893819 single base substitution C T intron_variant MELA-AU 3 8893908 8893908 single base substitution T C intron_variant MELA-AU 3 8894587 8894587 single base substitution C T intron_variant MELA-AU 3 8894646 8894646 single base substitution G A intron_variant MELA-AU 3 8894766 8894766 single base substitution T A intron_variant MELA-AU 3 8894971 8894971 single base substitution G A intron_variant MELA-AU 3 8895100 8895100 single base substitution G A intron_variant MELA-AU 3 8895498 8895498 single base substitution G A intron_variant MELA-AU 3 8895538 8895538 single base substitution G A intron_variant MELA-AU 3 8895564 8895564 single base substitution G A intron_variant MELA-AU 3 8895935 8895935 single base substitution A G intron_variant MELA-AU 3 8896281 8896281 single base substitution G A intron_variant MELA-AU 3 8896571 8896571 single base substitution G A intron_variant MELA-AU 3 8896972 8896972 single base substitution C T intron_variant MELA-AU 3 8897041 8897041 single base substitution G A intron_variant MELA-AU 3 8897138 8897138 deletion of <=200bp T - intron_variant MELA-AU 3 8897279 8897279 single base substitution G A intron_variant MELA-AU 3 8897322 8897322 single base substitution G A intron_variant MELA-AU 3 8897738 8897738 single base substitution G A intron_variant MELA-AU 3 8898261 8898261 single base substitution G A intron_variant MELA-AU 3 8898334 8898334 single base substitution G C intron_variant MELA-AU 3 8899097 8899097 single base substitution G A intron_variant MELA-AU 3 8899136 8899136 single base substitution T A intron_variant MELA-AU 3 8899187 8899187 single base substitution T C intron_variant MELA-AU 3 8899382 8899382 single base substitution G A intron_variant MELA-AU 3 8899603 8899603 single base substitution G A intron_variant MELA-AU 3 8900119 8900119 single base substitution G A intron_variant MELA-AU 3 8900180 8900180 single base substitution G A intron_variant MELA-AU 3 8900372 8900372 single base substitution G A intron_variant MELA-AU 3 8900417 8900417 single base substitution G A intron_variant MELA-AU 3 8900494 8900494 single base substitution T A intron_variant MELA-AU 3 8900594 8900594 single base substitution G C intron_variant MELA-AU 3 8900917 8900918 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 8901299 8901299 single base substitution G A intron_variant MELA-AU 3 8901763 8901763 single base substitution G A intron_variant MELA-AU 3 8901939 8901939 single base substitution G A intron_variant MELA-AU 3 8901953 8901953 single base substitution G A intron_variant MELA-AU 3 8902320 8902320 single base substitution G A intron_variant MELA-AU 3 8902394 8902394 single base substitution G A intron_variant MELA-AU 3 8902425 8902425 single base substitution G A intron_variant MELA-AU 3 8903225 8903225 single base substitution G A intron_variant MELA-AU 3 8903430 8903430 single base substitution G A intron_variant MELA-AU 3 8903494 8903494 single base substitution G A intron_variant MELA-AU 3 8903608 8903608 single base substitution A G intron_variant MELA-AU 3 8904223 8904223 single base substitution C T intron_variant MELA-AU 3 8904280 8904281 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 8904491 8904491 single base substitution G A intron_variant MELA-AU 3 8904498 8904498 single base substitution G A intron_variant MELA-AU 3 8905006 8905006 single base substitution G A intron_variant MELA-AU 3 8905809 8905809 single base substitution G A intron_variant MELA-AU 3 8906453 8906453 single base substitution G A intron_variant MELA-AU 3 8906555 8906555 single base substitution G A intron_variant MELA-AU 3 8906578 8906578 single base substitution G A intron_variant MELA-AU 3 8907058 8907058 single base substitution T G intron_variant MELA-AU 3 8907070 8907070 single base substitution T A intron_variant MELA-AU 3 8907154 8907154 single base substitution C T intron_variant MELA-AU 3 8907344 8907344 single base substitution G A intron_variant MELA-AU 3 8908088 8908088 single base substitution G A intron_variant MELA-AU 3 8908359 8908359 single base substitution G A intron_variant MELA-AU 3 8908408 8908408 single base substitution G A intron_variant MELA-AU 3 8909342 8909342 single base substitution G A intron_variant MELA-AU 3 8909739 8909739 single base substitution G A intron_variant MELA-AU 3 8910033 8910033 single base substitution G A intron_variant MELA-AU 3 8910328 8910328 single base substitution A T intron_variant MELA-AU 3 8910447 8910447 single base substitution G A intron_variant MELA-AU 3 8910976 8910976 single base substitution G A intron_variant MELA-AU 3 8912169 8912169 single base substitution C T intron_variant MELA-AU 3 8912229 8912229 single base substitution G A intron_variant MELA-AU 3 8912350 8912350 single base substitution G A intron_variant MELA-AU 3 8912605 8912605 single base substitution G A intron_variant MELA-AU 3 8912636 8912636 single base substitution G A intron_variant MELA-AU 3 8913047 8913047 single base substitution C A intron_variant MELA-AU 3 8913311 8913311 single base substitution C T intron_variant MELA-AU 3 8913327 8913327 single base substitution G A intron_variant MELA-AU 3 8913882 8913882 single base substitution G A downstream_gene_variant MELA-AU 3 8913882 8913882 single base substitution G A intron_variant MELA-AU 3 8914379 8914379 single base substitution G A downstream_gene_variant MELA-AU 3 8914379 8914379 single base substitution G A intron_variant MELA-AU 3 8914546 8914546 single base substitution G A downstream_gene_variant MELA-AU 3 8914546 8914546 single base substitution G A intron_variant MELA-AU 3 8914673 8914673 single base substitution G A downstream_gene_variant MELA-AU 3 8914673 8914673 single base substitution G A intron_variant MELA-AU 3 8914888 8914888 single base substitution G A downstream_gene_variant MELA-AU 3 8914888 8914888 single base substitution G A intron_variant MELA-AU 3 8914903 8914903 single base substitution G A downstream_gene_variant MELA-AU 3 8914903 8914903 single base substitution G A intron_variant MELA-AU 3 8914912 8914912 single base substitution G A downstream_gene_variant MELA-AU 3 8914912 8914912 single base substitution G A intron_variant MELA-AU 3 8915098 8915098 single base substitution G A downstream_gene_variant MELA-AU 3 8915098 8915098 single base substitution G A intron_variant MELA-AU 3 8915656 8915656 single base substitution G A downstream_gene_variant MELA-AU 3 8915656 8915656 single base substitution G A intron_variant MELA-AU 3 8915801 8915801 single base substitution C T downstream_gene_variant MELA-AU 3 8915801 8915801 single base substitution C T intron_variant MELA-AU 3 8915972 8915972 single base substitution G T downstream_gene_variant MELA-AU 3 8915972 8915972 single base substitution G T intron_variant MELA-AU 3 8916876 8916876 single base substitution C A downstream_gene_variant MELA-AU 3 8916876 8916876 single base substitution C A intron_variant MELA-AU 3 8916961 8916961 single base substitution G A downstream_gene_variant MELA-AU 3 8916961 8916961 single base substitution G A intron_variant MELA-AU 3 8917052 8917052 single base substitution G A downstream_gene_variant MELA-AU 3 8917052 8917052 single base substitution G A intron_variant MELA-AU 3 8917269 8917269 single base substitution G A downstream_gene_variant MELA-AU 3 8917269 8917269 single base substitution G A intron_variant MELA-AU 3 8917515 8917515 single base substitution G A downstream_gene_variant MELA-AU 3 8917515 8917515 single base substitution G A intron_variant MELA-AU 3 8918319 8918319 single base substitution C T downstream_gene_variant MELA-AU 3 8918319 8918319 single base substitution C T intron_variant MELA-AU 3 8918339 8918339 single base substitution T C downstream_gene_variant MELA-AU 3 8918339 8918339 single base substitution T C intron_variant MELA-AU 3 8918519 8918519 single base substitution G A downstream_gene_variant MELA-AU 3 8918519 8918519 single base substitution G A intron_variant MELA-AU 3 8918711 8918711 single base substitution G A downstream_gene_variant MELA-AU 3 8918711 8918711 single base substitution G A intron_variant MELA-AU 3 8919071 8919072 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 3 8919071 8919072 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 8919071 8919072 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 8919100 8919100 single base substitution C T 3_prime_UTR_variant MELA-AU 3 8919100 8919100 single base substitution C T downstream_gene_variant MELA-AU 3 8919100 8919100 single base substitution C T intron_variant MELA-AU 3 8919210 8919210 single base substitution G A 3_prime_UTR_variant MELA-AU 3 8919210 8919210 single base substitution G A downstream_gene_variant MELA-AU 3 8919210 8919210 single base substitution G A intron_variant MELA-AU 3 8919458 8919458 single base substitution G A 3_prime_UTR_variant MELA-AU 3 8919458 8919458 single base substitution G A downstream_gene_variant MELA-AU 3 8919458 8919458 single base substitution G A intron_variant MELA-AU 3 8919462 8919462 single base substitution G A 3_prime_UTR_variant MELA-AU 3 8919462 8919462 single base substitution G A downstream_gene_variant MELA-AU 3 8919462 8919462 single base substitution G A intron_variant MELA-AU 3 8919483 8919483 single base substitution G A 3_prime_UTR_variant MELA-AU 3 8919483 8919483 single base substitution G A downstream_gene_variant MELA-AU 3 8919483 8919483 single base substitution G A intron_variant MELA-AU 3 8919512 8919512 single base substitution A G 3_prime_UTR_variant MELA-AU 3 8919512 8919512 single base substitution A G downstream_gene_variant MELA-AU 3 8919512 8919512 single base substitution A G intron_variant MELA-AU 3 8919548 8919548 single base substitution G A 3_prime_UTR_variant MELA-AU 3 8919548 8919548 single base substitution G A downstream_gene_variant MELA-AU 3 8919548 8919548 single base substitution G A intron_variant MELA-AU 3 8919556 8919556 single base substitution G A 3_prime_UTR_variant MELA-AU 3 8919556 8919556 single base substitution G A downstream_gene_variant MELA-AU 3 8919556 8919556 single base substitution G A intron_variant MELA-AU 3 8919766 8919767 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 3 8919766 8919767 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 8919766 8919767 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 8919833 8919833 single base substitution G A 3_prime_UTR_variant MELA-AU 3 8919833 8919833 single base substitution G A downstream_gene_variant MELA-AU 3 8919833 8919833 single base substitution G A intron_variant MELA-AU 3 8920169 8920169 single base substitution C T 3_prime_UTR_variant MELA-AU 3 8920169 8920169 single base substitution C T downstream_gene_variant MELA-AU 3 8920169 8920169 single base substitution C T intron_variant MELA-AU 3 8920715 8920715 single base substitution G A 3_prime_UTR_variant MELA-AU 3 8920715 8920715 single base substitution G A downstream_gene_variant MELA-AU 3 8920715 8920715 single base substitution G A intron_variant MELA-AU 3 8920805 8920805 single base substitution C A 3_prime_UTR_variant MELA-AU 3 8920805 8920805 single base substitution C A downstream_gene_variant MELA-AU 3 8920805 8920805 single base substitution C A intron_variant MELA-AU 3 8921065 8921066 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 3 8921065 8921066 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 8921065 8921066 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 8921140 8921140 single base substitution G A 3_prime_UTR_variant MELA-AU 3 8921140 8921140 single base substitution G A downstream_gene_variant MELA-AU 3 8921140 8921140 single base substitution G A intron_variant MELA-AU 3 8922042 8922042 single base substitution G A 3_prime_UTR_variant MELA-AU 3 8922042 8922042 single base substitution G A downstream_gene_variant MELA-AU 3 8922042 8922042 single base substitution G A intron_variant MELA-AU 3 8922165 8922165 single base substitution A G 3_prime_UTR_variant MELA-AU 3 8922165 8922165 single base substitution A G downstream_gene_variant MELA-AU 3 8922165 8922165 single base substitution A G intron_variant MELA-AU 3 8922272 8922272 single base substitution A T 3_prime_UTR_variant MELA-AU 3 8922272 8922272 single base substitution A T downstream_gene_variant MELA-AU 3 8922272 8922272 single base substitution A T intron_variant MELA-AU 3 8923412 8923412 single base substitution G A intron_variant MELA-AU 3 8923414 8923414 single base substitution G A intron_variant MELA-AU 3 8923950 8923950 single base substitution G A intron_variant MELA-AU 3 8923955 8923955 single base substitution G A intron_variant MELA-AU 3 8924150 8924150 single base substitution G A intron_variant MELA-AU 3 8924780 8924780 single base substitution G A intron_variant MELA-AU 3 8925452 8925452 single base substitution G A intron_variant MELA-AU 3 8925539 8925539 single base substitution A T intron_variant MELA-AU 3 8925771 8925771 single base substitution G A intron_variant MELA-AU 3 8925773 8925773 single base substitution G A intron_variant MELA-AU 3 8925946 8925946 single base substitution G A intron_variant MELA-AU 3 8926049 8926049 single base substitution G A intron_variant MELA-AU 3 8926496 8926496 single base substitution G A intron_variant MELA-AU 3 8926943 8926943 single base substitution A C downstream_gene_variant MELA-AU 3 8926943 8926943 single base substitution A C intron_variant MELA-AU 3 8927357 8927357 single base substitution G A downstream_gene_variant MELA-AU 3 8927357 8927357 single base substitution G A intron_variant MELA-AU 3 8928079 8928079 single base substitution G T downstream_gene_variant MELA-AU 3 8928079 8928079 single base substitution G T intron_variant MELA-AU 3 8928151 8928151 single base substitution G A downstream_gene_variant MELA-AU 3 8928151 8928151 single base substitution G A intron_variant MELA-AU 3 8928761 8928762 multiple base substitution (>=2bp and <=200bp) AA GC downstream_gene_variant MELA-AU 3 8928761 8928762 multiple base substitution (>=2bp and <=200bp) AA GC intron_variant MELA-AU 3 8929030 8929030 single base substitution G A downstream_gene_variant MELA-AU 3 8929030 8929030 single base substitution G A intron_variant MELA-AU 3 8929918 8929918 single base substitution G A downstream_gene_variant MELA-AU 3 8929918 8929918 single base substitution G A intron_variant MELA-AU 3 8930168 8930168 single base substitution T A downstream_gene_variant MELA-AU 3 8930168 8930168 single base substitution T A intron_variant MELA-AU 3 8930670 8930670 single base substitution C A downstream_gene_variant MELA-AU 3 8930670 8930670 single base substitution C A intron_variant MELA-AU 3 8931054 8931054 single base substitution A G downstream_gene_variant MELA-AU 3 8931054 8931054 single base substitution A G intron_variant MELA-AU 3 8931907 8931907 single base substitution G A 3_prime_UTR_variant MELA-AU 3 8931907 8931907 single base substitution G A intron_variant MELA-AU 3 8932190 8932190 single base substitution A C intron_variant MELA-AU 3 8932699 8932699 single base substitution T C intron_variant MELA-AU 3 8933634 8933635 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 3 8934587 8934587 single base substitution A C intron_variant MELA-AU 3 8934922 8934922 single base substitution G A intron_variant MELA-AU 3 8934996 8934996 single base substitution A G intron_variant MELA-AU 3 8936188 8936188 single base substitution G A intron_variant MELA-AU 3 8936281 8936281 single base substitution G A intron_variant MELA-AU 3 8936351 8936351 single base substitution A C intron_variant MELA-AU 3 8936809 8936809 single base substitution C T intron_variant MELA-AU 3 8936831 8936831 single base substitution G A intron_variant MELA-AU 3 8937256 8937256 single base substitution G A intron_variant MELA-AU 3 8937368 8937368 single base substitution G A intron_variant MELA-AU 3 8937543 8937543 single base substitution G A intron_variant MELA-AU 3 8937655 8937655 single base substitution A G intron_variant MELA-AU 3 8938204 8938204 single base substitution G A intron_variant MELA-AU 3 8938516 8938516 single base substitution G A intron_variant MELA-AU 3 8938531 8938531 single base substitution G A intron_variant MELA-AU 3 8939571 8939571 single base substitution G A intron_variant MELA-AU 3 8939619 8939619 single base substitution G A intron_variant MELA-AU 3 8940685 8940685 single base substitution T A 3_prime_UTR_variant MELA-AU 3 8940685 8940685 single base substitution T A exon_variant MELA-AU 3 8940685 8940685 single base substitution T A synonymous_variant S22S 66A>T MELA-AU 3 8940685 8940685 single base substitution T A synonymous_variant S405S 1215A>T MELA-AU 3 8940685 8940685 single base substitution T A synonymous_variant S41S 123A>T MELA-AU 3 8941242 8941242 single base substitution G A intron_variant MELA-AU 3 8941350 8941350 single base substitution G A intron_variant MELA-AU 3 8941351 8941351 single base substitution G A intron_variant MELA-AU 3 8941713 8941713 single base substitution A C intron_variant MELA-AU 3 8942077 8942077 single base substitution G A intron_variant MELA-AU 3 8942867 8942867 single base substitution T C intron_variant MELA-AU 3 8943847 8943847 single base substitution G A intron_variant MELA-AU 3 8944024 8944024 single base substitution G A intron_variant MELA-AU 3 8944175 8944175 single base substitution G A 3_prime_UTR_variant MELA-AU 3 8944175 8944175 single base substitution G A exon_variant MELA-AU 3 8944175 8944175 single base substitution G A synonymous_variant L353L 1057C>T MELA-AU 3 8944175 8944175 single base substitution G A upstream_gene_variant MELA-AU 3 8944371 8944371 single base substitution G A intron_variant MELA-AU 3 8944371 8944371 single base substitution G A upstream_gene_variant MELA-AU 3 8944434 8944434 single base substitution G A intron_variant MELA-AU 3 8944434 8944434 single base substitution G A upstream_gene_variant MELA-AU 3 8944605 8944605 single base substitution G A intron_variant MELA-AU 3 8944605 8944605 single base substitution G A upstream_gene_variant MELA-AU 3 8944710 8944710 single base substitution A T intron_variant MELA-AU 3 8944710 8944710 single base substitution A T upstream_gene_variant MELA-AU 3 8944837 8944837 single base substitution G A intron_variant MELA-AU 3 8944837 8944837 single base substitution G A upstream_gene_variant MELA-AU 3 8945156 8945156 single base substitution C T intron_variant MELA-AU 3 8945156 8945156 single base substitution C T upstream_gene_variant MELA-AU 3 8945759 8945759 single base substitution G A intron_variant MELA-AU 3 8945759 8945759 single base substitution G A upstream_gene_variant MELA-AU 3 8945794 8945794 single base substitution G A intron_variant MELA-AU 3 8945794 8945794 single base substitution G A upstream_gene_variant MELA-AU 3 8946179 8946179 single base substitution G A intron_variant MELA-AU 3 8946179 8946179 single base substitution G A upstream_gene_variant MELA-AU 3 8946280 8946280 single base substitution C T intron_variant MELA-AU 3 8946280 8946280 single base substitution C T upstream_gene_variant MELA-AU 3 8946539 8946539 single base substitution A T intron_variant MELA-AU 3 8946539 8946539 single base substitution A T upstream_gene_variant MELA-AU 3 8946974 8946974 single base substitution C T intron_variant MELA-AU 3 8946974 8946974 single base substitution C T upstream_gene_variant MELA-AU 3 8947306 8947306 single base substitution G A intron_variant MELA-AU 3 8947306 8947306 single base substitution G A upstream_gene_variant MELA-AU 3 8948472 8948472 single base substitution G A intron_variant MELA-AU 3 8948472 8948472 single base substitution G A upstream_gene_variant MELA-AU 3 8949740 8949741 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 8949952 8949952 single base substitution T C intron_variant MELA-AU 3 8950193 8950193 single base substitution A C intron_variant MELA-AU 3 8950331 8950331 single base substitution C G intron_variant MELA-AU 3 8950415 8950415 deletion of <=200bp A - intron_variant MELA-AU 3 8950433 8950433 single base substitution G A intron_variant MELA-AU 3 8950801 8950801 single base substitution G A intron_variant MELA-AU 3 8951137 8951137 single base substitution G A intron_variant MELA-AU 3 8951287 8951288 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 8952101 8952101 single base substitution G A intron_variant MELA-AU 3 8952216 8952216 single base substitution C T intron_variant MELA-AU 3 8952327 8952327 single base substitution T A intron_variant MELA-AU 3 8952665 8952665 single base substitution G A intron_variant MELA-AU 3 8953617 8953617 single base substitution A T intron_variant MELA-AU 3 8954639 8954639 single base substitution T C intron_variant MELA-AU 3 8954639 8954639 single base substitution T C upstream_gene_variant MELA-AU 3 8954737 8954737 single base substitution C T intron_variant MELA-AU 3 8954737 8954737 single base substitution C T upstream_gene_variant MELA-AU 3 8955365 8955365 single base substitution G A intron_variant MELA-AU 3 8955365 8955365 single base substitution G A missense_variant T310I 929C>T MELA-AU 3 8955365 8955365 single base substitution G A upstream_gene_variant MELA-AU 3 8956759 8956759 single base substitution G A intron_variant MELA-AU 3 8956759 8956759 single base substitution G A upstream_gene_variant MELA-AU 3 8956762 8956762 single base substitution G A intron_variant MELA-AU 3 8956762 8956762 single base substitution G A upstream_gene_variant MELA-AU 3 8957355 8957355 single base substitution C T intron_variant MELA-AU 3 8957355 8957355 single base substitution C T upstream_gene_variant MELA-AU 3 8957656 8957656 single base substitution A T intron_variant MELA-AU 3 8957656 8957656 single base substitution A T upstream_gene_variant MELA-AU 3 8957770 8957770 single base substitution G A intron_variant MELA-AU 3 8957770 8957770 single base substitution G A upstream_gene_variant MELA-AU 3 8957866 8957866 single base substitution G A intron_variant MELA-AU 3 8957866 8957866 single base substitution G A upstream_gene_variant MELA-AU 3 8958124 8958124 single base substitution G A intron_variant MELA-AU 3 8958124 8958124 single base substitution G A upstream_gene_variant MELA-AU 3 8958493 8958493 single base substitution G A intron_variant MELA-AU 3 8958493 8958493 single base substitution G A upstream_gene_variant MELA-AU 3 8959711 8959711 single base substitution G A intron_variant MELA-AU 3 8959760 8959760 single base substitution G A intron_variant MELA-AU 3 8960500 8960500 single base substitution G T intron_variant MELA-AU 3 8960728 8960728 single base substitution C T intron_variant MELA-AU 3 8960856 8960856 single base substitution G A intron_variant MELA-AU 3 8961467 8961467 single base substitution G A intron_variant MELA-AU 3 8961534 8961534 single base substitution G A intron_variant MELA-AU 3 8961685 8961685 single base substitution G A intron_variant MELA-AU 3 8962152 8962152 single base substitution G A intron_variant MELA-AU 3 8962730 8962730 single base substitution A G intron_variant MELA-AU 3 8962801 8962801 single base substitution A C intron_variant MELA-AU 3 8962935 8962935 single base substitution C A intron_variant MELA-AU 3 8963901 8963901 single base substitution G A intron_variant MELA-AU 3 8964032 8964032 single base substitution G A intron_variant MELA-AU 3 8964489 8964489 single base substitution G A intron_variant MELA-AU 3 8964706 8964706 single base substitution G A intron_variant MELA-AU 3 8964833 8964833 single base substitution G A intron_variant MELA-AU 3 8964905 8964905 single base substitution G A intron_variant MELA-AU 3 8965030 8965030 single base substitution A C intron_variant MELA-AU 3 8965528 8965528 single base substitution C T intron_variant MELA-AU 3 8967078 8967078 single base substitution G A intron_variant MELA-AU 3 8967223 8967223 single base substitution G A intron_variant MELA-AU 3 8968361 8968361 single base substitution A G intron_variant MELA-AU 3 8969818 8969818 single base substitution G A intron_variant MELA-AU 3 8969822 8969822 single base substitution A C intron_variant MELA-AU 3 8970934 8970934 single base substitution G A intron_variant MELA-AU 3 8971004 8971004 single base substitution G A intron_variant MELA-AU 3 8971305 8971305 single base substitution G A intron_variant MELA-AU 3 8971721 8971721 single base substitution G A intron_variant MELA-AU 3 8971782 8971782 deletion of <=200bp A - intron_variant MELA-AU 3 8972036 8972036 single base substitution A G intron_variant MELA-AU 3 8973360 8973360 single base substitution G A intron_variant MELA-AU 3 8974504 8974504 single base substitution G A intron_variant MELA-AU 3 8974706 8974706 single base substitution G A intron_variant MELA-AU 3 8974969 8974969 single base substitution G A intron_variant MELA-AU 3 8974971 8974971 single base substitution G A intron_variant MELA-AU 3 8975507 8975507 single base substitution G A intron_variant MELA-AU 3 8976242 8976242 single base substitution G A intron_variant MELA-AU 3 8976532 8976532 single base substitution G A intron_variant MELA-AU 3 8976630 8976630 single base substitution G A intron_variant MELA-AU 3 8976824 8976824 single base substitution G A intron_variant MELA-AU 3 8976974 8976974 single base substitution A G intron_variant MELA-AU 3 8977352 8977352 single base substitution G A intron_variant MELA-AU 3 8977359 8977359 single base substitution G A intron_variant MELA-AU 3 8977647 8977647 single base substitution G A exon_variant MELA-AU 3 8977647 8977647 single base substitution G A missense_variant S266F 797C>T MELA-AU 3 8977684 8977684 single base substitution G A exon_variant MELA-AU 3 8977684 8977684 single base substitution G A missense_variant R254C 760C>T MELA-AU 3 8977838 8977838 single base substitution G A intron_variant MELA-AU 3 8977995 8977995 single base substitution G A intron_variant MELA-AU 3 8978904 8978904 single base substitution G A downstream_gene_variant MELA-AU 3 8978904 8978904 single base substitution G A intron_variant MELA-AU 3 8979487 8979487 single base substitution G A downstream_gene_variant MELA-AU 3 8979487 8979487 single base substitution G A intron_variant MELA-AU 3 8979497 8979497 single base substitution G A downstream_gene_variant MELA-AU 3 8979497 8979497 single base substitution G A intron_variant MELA-AU 3 8979725 8979725 single base substitution G A downstream_gene_variant MELA-AU 3 8979725 8979725 single base substitution G A intron_variant MELA-AU 3 8980391 8980391 single base substitution G A downstream_gene_variant MELA-AU 3 8980391 8980391 single base substitution G A intron_variant MELA-AU 3 8980851 8980851 single base substitution C T downstream_gene_variant MELA-AU 3 8980851 8980851 single base substitution C T intron_variant MELA-AU 3 8981618 8981618 single base substitution G A downstream_gene_variant MELA-AU 3 8981618 8981618 single base substitution G A intron_variant MELA-AU 3 8981747 8981747 single base substitution G A downstream_gene_variant MELA-AU 3 8981747 8981747 single base substitution G A intron_variant MELA-AU 3 8981759 8981759 single base substitution G A downstream_gene_variant MELA-AU 3 8981759 8981759 single base substitution G A intron_variant MELA-AU 3 8981897 8981897 single base substitution G A downstream_gene_variant MELA-AU 3 8981897 8981897 single base substitution G A intron_variant MELA-AU 3 8982433 8982433 single base substitution G A downstream_gene_variant MELA-AU 3 8982433 8982433 single base substitution G A intron_variant MELA-AU 3 8982875 8982875 single base substitution G A downstream_gene_variant MELA-AU 3 8982875 8982875 single base substitution G A intron_variant MELA-AU 3 8982876 8982876 single base substitution G A downstream_gene_variant MELA-AU 3 8982876 8982876 single base substitution G A intron_variant MELA-AU 3 8982993 8982993 single base substitution A T downstream_gene_variant MELA-AU 3 8982993 8982993 single base substitution A T intron_variant MELA-AU 3 8983221 8983221 single base substitution G A 3_prime_UTR_variant MELA-AU 3 8983221 8983221 single base substitution G A downstream_gene_variant MELA-AU 3 8983221 8983221 single base substitution G A exon_variant MELA-AU 3 8983221 8983221 single base substitution G A synonymous_variant I178I 534C>T MELA-AU 3 8983370 8983370 single base substitution C T 3_prime_UTR_variant MELA-AU 3 8983370 8983370 single base substitution C T downstream_gene_variant MELA-AU 3 8983370 8983370 single base substitution C T exon_variant MELA-AU 3 8983370 8983370 single base substitution C T missense_variant G129R 385G>A MELA-AU 3 8983615 8983615 single base substitution C T intron_variant MELA-AU 3 8984003 8984004 multiple base substitution (>=2bp and <=200bp) AC TT downstream_gene_variant MELA-AU 3 8984003 8984004 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 3 8984379 8984379 single base substitution A G downstream_gene_variant MELA-AU 3 8984379 8984379 single base substitution A G intron_variant MELA-AU 3 8984481 8984481 single base substitution C T downstream_gene_variant MELA-AU 3 8984481 8984481 single base substitution C T intron_variant MELA-AU 3 8984533 8984533 single base substitution G A downstream_gene_variant MELA-AU 3 8984533 8984533 single base substitution G A intron_variant MELA-AU 3 8985473 8985473 single base substitution G A downstream_gene_variant MELA-AU 3 8985473 8985473 single base substitution G A intron_variant MELA-AU 3 8985538 8985538 single base substitution G A downstream_gene_variant MELA-AU 3 8985538 8985538 single base substitution G A intron_variant MELA-AU 3 8986171 8986171 single base substitution G A downstream_gene_variant MELA-AU 3 8986171 8986171 single base substitution G A intron_variant MELA-AU 3 8986220 8986220 single base substitution G A downstream_gene_variant MELA-AU 3 8986220 8986220 single base substitution G A intron_variant MELA-AU 3 8986270 8986270 single base substitution G A downstream_gene_variant MELA-AU 3 8986270 8986270 single base substitution G A intron_variant MELA-AU 3 8986319 8986319 single base substitution G A downstream_gene_variant MELA-AU 3 8986319 8986319 single base substitution G A intron_variant MELA-AU 3 8986331 8986331 single base substitution G A downstream_gene_variant MELA-AU 3 8986331 8986331 single base substitution G A intron_variant MELA-AU 3 8986785 8986785 single base substitution G A downstream_gene_variant MELA-AU 3 8986785 8986785 single base substitution G A intron_variant MELA-AU 3 8986872 8986872 single base substitution A G downstream_gene_variant MELA-AU 3 8986872 8986872 single base substitution A G intron_variant MELA-AU 3 8987486 8987487 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 8987486 8987487 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 8987487 8987487 single base substitution G A downstream_gene_variant MELA-AU 3 8987487 8987487 single base substitution G A intron_variant MELA-AU 3 8988075 8988075 single base substitution T C downstream_gene_variant MELA-AU 3 8988075 8988075 single base substitution T C intron_variant MELA-AU 3 8988997 8988997 single base substitution G A intron_variant MELA-AU 3 8989594 8989594 single base substitution A C intron_variant MELA-AU 3 8989997 8989997 single base substitution G A intron_variant MELA-AU 3 8990289 8990289 single base substitution A G intron_variant MELA-AU 3 8990661 8990661 single base substitution G A intron_variant MELA-AU 3 8990662 8990662 single base substitution G A intron_variant MELA-AU 3 8991446 8991446 single base substitution G A intron_variant MELA-AU 3 8992055 8992055 single base substitution G A intron_variant MELA-AU 3 8992336 8992336 single base substitution G A intron_variant MELA-AU 3 8992672 8992672 single base substitution G A intron_variant MELA-AU 3 8993959 8993959 single base substitution G A intron_variant MELA-AU 3 8994118 8994118 single base substitution G A intron_variant MELA-AU 3 8994313 8994313 single base substitution G A intron_variant MELA-AU 3 8995520 8995521 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 8996756 8996757 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 8999022 8999022 single base substitution G A intron_variant MELA-AU 3 8999058 8999058 single base substitution G A intron_variant MELA-AU 3 8999793 8999793 single base substitution C T intron_variant MELA-AU 3 9000063 9000063 single base substitution G A intron_variant MELA-AU 3 9000333 9000333 single base substitution A G intron_variant MELA-AU 3 9000336 9000336 single base substitution G A intron_variant MELA-AU 3 9001322 9001322 single base substitution G A intron_variant MELA-AU 3 9001473 9001474 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 9001824 9001824 single base substitution C T intron_variant MELA-AU 3 9002009 9002009 single base substitution G A intron_variant MELA-AU 3 9002263 9002263 single base substitution G A intron_variant MELA-AU 3 9003426 9003426 single base substitution C T intron_variant MELA-AU 3 9004643 9004643 single base substitution G A intron_variant MELA-AU 3 9004803 9004803 single base substitution A G intron_variant MELA-AU 3 9004933 9004933 single base substitution C T intron_variant MELA-AU 3 9004963 9004963 single base substitution G A intron_variant MELA-AU 3 9004964 9004964 single base substitution G A intron_variant MELA-AU 3 9005061 9005061 single base substitution G A exon_variant MELA-AU 3 9005061 9005061 single base substitution G A synonymous_variant S3S 9C>T MELA-AU 3 9006216 9006216 single base substitution G A upstream_gene_variant MELA-AU 3 9006221 9006221 single base substitution G A upstream_gene_variant MELA-AU 3 9007358 9007358 single base substitution C T upstream_gene_variant MELA-AU 3 9007416 9007416 single base substitution C T upstream_gene_variant MELA-AU 3 9007474 9007474 single base substitution C T upstream_gene_variant MELA-AU 3 9007715 9007715 single base substitution G A upstream_gene_variant MELA-AU 3 9008763 9008763 single base substitution G A upstream_gene_variant MELA-AU 3 9008950 9008950 single base substitution G A upstream_gene_variant MELA-AU 3 9009056 9009056 single base substitution G A upstream_gene_variant MELA-AU 3 9009057 9009057 single base substitution G A upstream_gene_variant MELA-AU 3 9009110 9009110 single base substitution G A upstream_gene_variant MELA-AU 3 9009256 9009257 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 9009592 9009592 single base substitution C T upstream_gene_variant MELA-AU 3 9009701 9009701 single base substitution G A upstream_gene_variant MELA-AU 3 9009784 9009784 single base substitution T G upstream_gene_variant MELA-AU 3 9009981 9009981 single base substitution C T upstream_gene_variant MELA-AU 3 9009987 9009987 single base substitution C T upstream_gene_variant MELA-AU 3 9010439 9010439 single base substitution C T upstream_gene_variant ORCA-IN 3 8868285 8868285 single base substitution G T intron_variant ORCA-IN 3 8913047 8913047 single base substitution C A intron_variant ORCA-IN 3 8913191 8913191 single base substitution C T intron_variant ORCA-IN 3 8932908 8932908 single base substitution C T intron_variant ORCA-IN 3 8950733 8950733 single base substitution G C intron_variant ORCA-IN 3 8986538 8986538 single base substitution G A downstream_gene_variant ORCA-IN 3 8986538 8986538 single base substitution G A intron_variant ORCA-IN 3 8994659 8994659 single base substitution C G intron_variant OV-AU 3 8812334 8812334 single base substitution C A downstream_gene_variant OV-AU 3 8812335 8812335 single base substitution C A downstream_gene_variant OV-AU 3 8814205 8814205 single base substitution C A downstream_gene_variant OV-AU 3 8818515 8818515 single base substitution T A intron_variant OV-AU 3 8823465 8823465 single base substitution A G intron_variant OV-AU 3 8844787 8844787 single base substitution C A intron_variant OV-AU 3 8847134 8847134 single base substitution C T intron_variant OV-AU 3 8847415 8847415 single base substitution A G intron_variant OV-AU 3 8848163 8848163 single base substitution G C intron_variant OV-AU 3 8848660 8848660 single base substitution C T intron_variant OV-AU 3 8856800 8856800 single base substitution G C intron_variant OV-AU 3 8861273 8861273 single base substitution G C intron_variant OV-AU 3 8872891 8872891 single base substitution T C intron_variant OV-AU 3 8877004 8877004 single base substitution G A intron_variant OV-AU 3 8878068 8878068 single base substitution G C intron_variant OV-AU 3 8879656 8879656 single base substitution G A intron_variant OV-AU 3 8892954 8892954 single base substitution A T intron_variant OV-AU 3 8898907 8898907 single base substitution T C intron_variant OV-AU 3 8913074 8913074 single base substitution C G intron_variant OV-AU 3 8921707 8921707 single base substitution C T 3_prime_UTR_variant OV-AU 3 8921707 8921707 single base substitution C T downstream_gene_variant OV-AU 3 8921707 8921707 single base substitution C T intron_variant OV-AU 3 8924423 8924423 single base substitution A C intron_variant OV-AU 3 8926079 8926079 single base substitution C T intron_variant OV-AU 3 8927269 8927269 single base substitution G A downstream_gene_variant OV-AU 3 8927269 8927269 single base substitution G A intron_variant OV-AU 3 8929520 8929520 single base substitution G A downstream_gene_variant OV-AU 3 8929520 8929520 single base substitution G A intron_variant OV-AU 3 8937674 8937674 single base substitution T A intron_variant OV-AU 3 8940661 8940661 single base substitution C T 3_prime_UTR_variant OV-AU 3 8940661 8940661 single base substitution C T exon_variant OV-AU 3 8940661 8940661 single base substitution C T synonymous_variant L30L 90G>A OV-AU 3 8940661 8940661 single base substitution C T synonymous_variant L413L 1239G>A OV-AU 3 8940661 8940661 single base substitution C T synonymous_variant L49L 147G>A OV-AU 3 8957941 8957941 single base substitution C T intron_variant OV-AU 3 8957941 8957941 single base substitution C T upstream_gene_variant OV-AU 3 8964838 8964838 single base substitution T A intron_variant OV-AU 3 8969206 8969206 single base substitution G T intron_variant OV-AU 3 9006476 9006476 single base substitution G T upstream_gene_variant OV-AU 3 9009029 9009029 single base substitution G A upstream_gene_variant OV-US 3 8923063 8923063 single base substitution C G 3_prime_UTR_variant OV-US 3 8923063 8923063 single base substitution C G downstream_gene_variant OV-US 3 8923063 8923063 single base substitution C G intron_variant OV-US 3 8923063 8923063 single base substitution C G missense_variant R489T 1466G>C PACA-AU 3 8812584 8812584 single base substitution G T downstream_gene_variant PACA-AU 3 8817640 8817640 single base substitution G A intron_variant PACA-AU 3 8818303 8818303 single base substitution G A intron_variant PACA-AU 3 8819285 8819285 deletion of <=200bp C - intron_variant PACA-AU 3 8819592 8819592 single base substitution C T intron_variant PACA-AU 3 8824728 8824728 single base substitution G A intron_variant PACA-AU 3 8833203 8833203 single base substitution C T intron_variant PACA-AU 3 8839184 8839184 single base substitution T A intron_variant PACA-AU 3 8839741 8839741 single base substitution T C intron_variant PACA-AU 3 8840438 8840438 single base substitution T C intron_variant PACA-AU 3 8840680 8840680 single base substitution G T intron_variant PACA-AU 3 8843686 8843686 deletion of <=200bp A - intron_variant PACA-AU 3 8856873 8856873 single base substitution A C intron_variant PACA-AU 3 8858438 8858438 single base substitution G A intron_variant PACA-AU 3 8865778 8865778 single base substitution T C intron_variant PACA-AU 3 8866223 8866223 single base substitution G C intron_variant PACA-AU 3 8867451 8867451 insertion of <=200bp - C intron_variant PACA-AU 3 8868237 8868237 deletion of <=200bp A - intron_variant PACA-AU 3 8868334 8868334 single base substitution C A intron_variant PACA-AU 3 8877810 8877810 single base substitution C T intron_variant PACA-AU 3 8878379 8878379 single base substitution A C intron_variant PACA-AU 3 8883390 8883390 single base substitution T C intron_variant PACA-AU 3 8891632 8891632 single base substitution A T intron_variant PACA-AU 3 8892067 8892067 single base substitution T C intron_variant PACA-AU 3 8897920 8897920 single base substitution G A intron_variant PACA-AU 3 8897921 8897921 single base substitution C T intron_variant PACA-AU 3 8898265 8898265 single base substitution C T intron_variant PACA-AU 3 8902371 8902371 single base substitution A G intron_variant PACA-AU 3 8902372 8902372 single base substitution G A intron_variant PACA-AU 3 8908220 8908220 single base substitution C T intron_variant PACA-AU 3 8908693 8908693 single base substitution C T intron_variant PACA-AU 3 8910152 8910152 single base substitution T A intron_variant PACA-AU 3 8925486 8925486 single base substitution T C intron_variant PACA-AU 3 8933458 8933458 single base substitution T C intron_variant PACA-AU 3 8946597 8946597 single base substitution A C intron_variant PACA-AU 3 8946597 8946597 single base substitution A C upstream_gene_variant PACA-AU 3 8952971 8952971 single base substitution A G intron_variant PACA-AU 3 8956732 8956732 deletion of <=200bp C - intron_variant PACA-AU 3 8956732 8956732 deletion of <=200bp C - upstream_gene_variant PACA-AU 3 8959614 8959614 single base substitution T G intron_variant PACA-AU 3 8962958 8962958 insertion of <=200bp - T intron_variant PACA-AU 3 8963191 8963191 deletion of <=200bp T - intron_variant PACA-AU 3 8979770 8979770 single base substitution G C downstream_gene_variant PACA-AU 3 8979770 8979770 single base substitution G C intron_variant PACA-AU 3 8988943 8988943 single base substitution C T 3_prime_UTR_variant PACA-AU 3 8988943 8988943 single base substitution C T exon_variant PACA-AU 3 8988943 8988943 single base substitution C T missense_variant R76H 227G>A PACA-AU 3 9008091 9008091 single base substitution T A upstream_gene_variant PACA-AU 3 9008092 9008092 single base substitution A T upstream_gene_variant PACA-CA 3 8812094 8812094 single base substitution T G downstream_gene_variant PACA-CA 3 8812615 8812615 single base substitution G A downstream_gene_variant PACA-CA 3 8814878 8814879 deletion of <=200bp TA - downstream_gene_variant PACA-CA 3 8815095 8815095 single base substitution C G downstream_gene_variant PACA-CA 3 8818322 8818322 single base substitution C T intron_variant PACA-CA 3 8819522 8819522 single base substitution A T intron_variant PACA-CA 3 8820023 8820023 single base substitution A G intron_variant PACA-CA 3 8827134 8827134 single base substitution G C intron_variant PACA-CA 3 8827330 8827330 single base substitution G A intron_variant PACA-CA 3 8829162 8829162 single base substitution C T intron_variant PACA-CA 3 8830023 8830023 single base substitution G T intron_variant PACA-CA 3 8835692 8835692 single base substitution A T intron_variant PACA-CA 3 8841997 8841997 single base substitution T C intron_variant PACA-CA 3 8843469 8843469 single base substitution T C intron_variant PACA-CA 3 8843765 8843765 deletion of <=200bp C - intron_variant PACA-CA 3 8843834 8843834 single base substitution C G intron_variant PACA-CA 3 8844405 8844405 single base substitution G A intron_variant PACA-CA 3 8844605 8844605 single base substitution C T intron_variant PACA-CA 3 8847377 8847377 deletion of <=200bp A - intron_variant PACA-CA 3 8848547 8848547 single base substitution C G intron_variant PACA-CA 3 8849352 8849352 single base substitution G C intron_variant PACA-CA 3 8852266 8852266 single base substitution T C intron_variant PACA-CA 3 8852540 8852540 single base substitution G A intron_variant PACA-CA 3 8854174 8854174 single base substitution G A intron_variant PACA-CA 3 8857514 8857514 single base substitution G A intron_variant PACA-CA 3 8861308 8861308 single base substitution C T intron_variant PACA-CA 3 8861946 8861946 single base substitution C T intron_variant PACA-CA 3 8863604 8863604 single base substitution G T intron_variant PACA-CA 3 8865064 8865064 single base substitution A T intron_variant PACA-CA 3 8866720 8866720 single base substitution C T intron_variant PACA-CA 3 8868375 8868375 single base substitution G A intron_variant PACA-CA 3 8873531 8873531 single base substitution A G intron_variant PACA-CA 3 8883904 8883904 single base substitution G A intron_variant PACA-CA 3 8886658 8886658 single base substitution T C intron_variant PACA-CA 3 8888680 8888680 single base substitution T A intron_variant PACA-CA 3 8895855 8895855 single base substitution T A intron_variant PACA-CA 3 8896108 8896108 single base substitution C T intron_variant PACA-CA 3 8898987 8898987 single base substitution G T intron_variant PACA-CA 3 8902863 8902863 single base substitution C T intron_variant PACA-CA 3 8903330 8903330 single base substitution T G intron_variant PACA-CA 3 8904213 8904213 single base substitution C T intron_variant PACA-CA 3 8906329 8906329 single base substitution T C intron_variant PACA-CA 3 8908152 8908152 single base substitution G C intron_variant PACA-CA 3 8909160 8909160 single base substitution C G intron_variant PACA-CA 3 8913739 8913739 single base substitution C T intron_variant PACA-CA 3 8914066 8914066 single base substitution G T downstream_gene_variant PACA-CA 3 8914066 8914066 single base substitution G T intron_variant PACA-CA 3 8919124 8919124 single base substitution C T 3_prime_UTR_variant PACA-CA 3 8919124 8919124 single base substitution C T downstream_gene_variant PACA-CA 3 8919124 8919124 single base substitution C T intron_variant PACA-CA 3 8919774 8919774 single base substitution G A 3_prime_UTR_variant PACA-CA 3 8919774 8919774 single base substitution G A downstream_gene_variant PACA-CA 3 8919774 8919774 single base substitution G A intron_variant PACA-CA 3 8922944 8922944 single base substitution A T 3_prime_UTR_variant PACA-CA 3 8922944 8922944 single base substitution A T downstream_gene_variant PACA-CA 3 8922944 8922944 single base substitution A T intron_variant PACA-CA 3 8923440 8923440 single base substitution C T intron_variant PACA-CA 3 8923789 8923789 single base substitution G A intron_variant PACA-CA 3 8925049 8925049 single base substitution G C intron_variant PACA-CA 3 8926302 8926302 single base substitution T C intron_variant PACA-CA 3 8930104 8930104 single base substitution G T downstream_gene_variant PACA-CA 3 8930104 8930104 single base substitution G T intron_variant PACA-CA 3 8937905 8937905 single base substitution C T intron_variant PACA-CA 3 8938038 8938038 single base substitution T C intron_variant PACA-CA 3 8948059 8948059 deletion of <=200bp T - intron_variant PACA-CA 3 8948059 8948059 deletion of <=200bp T - upstream_gene_variant PACA-CA 3 8949124 8949124 single base substitution C G intron_variant PACA-CA 3 8949124 8949124 single base substitution C G upstream_gene_variant PACA-CA 3 8956678 8956678 insertion of <=200bp - A intron_variant PACA-CA 3 8956678 8956678 insertion of <=200bp - A upstream_gene_variant PACA-CA 3 8960050 8960050 single base substitution T C intron_variant PACA-CA 3 8961977 8961977 single base substitution A G intron_variant PACA-CA 3 8962822 8962822 single base substitution G A intron_variant PACA-CA 3 8977835 8977835 single base substitution C T intron_variant PACA-CA 3 8981644 8981644 single base substitution C A downstream_gene_variant PACA-CA 3 8981644 8981644 single base substitution C A intron_variant PACA-CA 3 8982438 8982438 single base substitution G A downstream_gene_variant PACA-CA 3 8982438 8982438 single base substitution G A intron_variant PACA-CA 3 8982653 8982653 single base substitution T C downstream_gene_variant PACA-CA 3 8982653 8982653 single base substitution T C intron_variant PACA-CA 3 8984349 8984349 single base substitution A C downstream_gene_variant PACA-CA 3 8984349 8984349 single base substitution A C intron_variant PACA-CA 3 8988905 8988905 single base substitution G A exon_variant PACA-CA 3 8988905 8988905 single base substitution G A intron_variant PACA-CA 3 8988905 8988905 single base substitution G A missense_variant R89W 265C>T PACA-CA 3 8988905 8988905 single base substitution G A splice_region_variant PACA-CA 3 8990169 8990169 insertion of <=200bp - A intron_variant PACA-CA 3 8999537 8999537 single base substitution T C intron_variant PACA-CA 3 9000338 9000338 single base substitution A G intron_variant PACA-CA 3 9003219 9003219 single base substitution G A intron_variant PACA-CA 3 9005373 9005373 single base substitution T A 5_prime_UTR_variant PACA-CA 3 9005373 9005373 single base substitution T A upstream_gene_variant PACA-CA 3 9005710 9005710 single base substitution T C upstream_gene_variant PACA-CA 3 9007514 9007514 single base substitution C T upstream_gene_variant PAEN-AU 3 8844902 8844902 single base substitution G C intron_variant PAEN-AU 3 8847125 8847125 single base substitution G A intron_variant PAEN-AU 3 8855245 8855245 single base substitution G T intron_variant PAEN-AU 3 8898721 8898721 single base substitution G C intron_variant PAEN-AU 3 8974794 8974794 insertion of <=200bp - AAATA intron_variant PAEN-IT 3 8836448 8836448 single base substitution C A intron_variant PAEN-IT 3 8858002 8858002 single base substitution G C intron_variant PAEN-IT 3 8926123 8926123 single base substitution C A intron_variant PAEN-IT 3 8929464 8929464 single base substitution T G downstream_gene_variant PAEN-IT 3 8929464 8929464 single base substitution T G intron_variant PAEN-IT 3 8940449 8940449 single base substitution G T intron_variant PAEN-IT 3 8950529 8950529 single base substitution C A intron_variant PAEN-IT 3 8976933 8976933 single base substitution T C intron_variant PBCA-DE 3 8838688 8838688 single base substitution G A intron_variant PBCA-DE 3 8841306 8841307 deletion of <=200bp TG - intron_variant PBCA-DE 3 8863894 8863894 single base substitution C T intron_variant PBCA-DE 3 8867324 8867324 insertion of <=200bp - A intron_variant PBCA-DE 3 8868827 8868827 single base substitution G C intron_variant PBCA-DE 3 8876771 8876771 single base substitution G A intron_variant PBCA-DE 3 8880359 8880359 single base substitution G A intron_variant PBCA-DE 3 8885611 8885611 single base substitution C T intron_variant PBCA-DE 3 8916492 8916492 single base substitution G A downstream_gene_variant PBCA-DE 3 8916492 8916492 single base substitution G A intron_variant PBCA-DE 3 8923245 8923245 single base substitution C T intron_variant PBCA-DE 3 8926163 8926163 single base substitution T A intron_variant PBCA-DE 3 8932104 8932104 single base substitution C T 3_prime_UTR_variant PBCA-DE 3 8932104 8932104 single base substitution C T exon_variant PBCA-DE 3 8932104 8932104 single base substitution C T missense_variant E452K 1354G>A PBCA-DE 3 8932104 8932104 single base substitution C T missense_variant E69K 205G>A PBCA-DE 3 8932104 8932104 single base substitution C T missense_variant E88K 262G>A PBCA-DE 3 8933331 8933331 single base substitution C T intron_variant PBCA-DE 3 8937747 8937747 single base substitution C T intron_variant PBCA-DE 3 8963821 8963821 single base substitution G T intron_variant PBCA-DE 3 8975956 8975956 single base substitution T C intron_variant PBCA-DE 3 8983167 8983167 single base substitution C A downstream_gene_variant PBCA-DE 3 8983167 8983167 single base substitution C A exon_variant PBCA-DE 3 8983167 8983167 single base substitution C A missense_variant L196F 588G>T PBCA-DE 3 8986910 8986910 single base substitution C T downstream_gene_variant PBCA-DE 3 8986910 8986910 single base substitution C T intron_variant PBCA-DE 3 8990535 8990535 single base substitution A T intron_variant PBCA-DE 3 8994734 8994734 single base substitution T G intron_variant PBCA-DE 3 8999267 8999267 single base substitution T C intron_variant PRAD-CA 3 8830006 8830006 single base substitution C T intron_variant PRAD-CA 3 8838294 8838294 single base substitution T C intron_variant PRAD-CA 3 8843796 8843796 single base substitution C T intron_variant PRAD-CA 3 8884839 8884839 single base substitution C G intron_variant PRAD-CA 3 8885293 8885293 single base substitution G A intron_variant PRAD-CA 3 8900636 8900636 single base substitution C G intron_variant PRAD-CA 3 8911810 8911810 single base substitution G C intron_variant PRAD-CA 3 8964969 8964969 single base substitution G T intron_variant PRAD-CA 3 9005126 9005126 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PRAD-CA 3 9005126 9005126 single base substitution C T exon_variant PRAD-CA 3 9005126 9005126 single base substitution C T upstream_gene_variant PRAD-CA 3 9005541 9005541 single base substitution C G upstream_gene_variant PRAD-CA 3 9010372 9010372 single base substitution C T upstream_gene_variant PRAD-UK 3 8815441 8815441 single base substitution C G downstream_gene_variant PRAD-UK 3 8839839 8839839 single base substitution C G intron_variant PRAD-UK 3 8848220 8848220 deletion of <=200bp C - intron_variant PRAD-UK 3 8861372 8861372 single base substitution G T intron_variant PRAD-UK 3 8862902 8862902 deletion of <=200bp C - intron_variant PRAD-UK 3 8885783 8885783 single base substitution C A intron_variant PRAD-UK 3 8885784 8885784 single base substitution A G intron_variant PRAD-UK 3 8892361 8892361 single base substitution G A intron_variant PRAD-UK 3 8897726 8897726 single base substitution A G intron_variant PRAD-UK 3 8902418 8902418 single base substitution T G intron_variant PRAD-UK 3 8919610 8919610 single base substitution C T 3_prime_UTR_variant PRAD-UK 3 8919610 8919610 single base substitution C T downstream_gene_variant PRAD-UK 3 8919610 8919610 single base substitution C T intron_variant PRAD-UK 3 8929885 8929885 single base substitution C G downstream_gene_variant PRAD-UK 3 8929885 8929885 single base substitution C G intron_variant PRAD-UK 3 8940312 8940312 deletion of <=200bp T - intron_variant PRAD-UK 3 8970717 8970717 single base substitution A T intron_variant PRAD-UK 3 8989056 8989056 single base substitution C G intron_variant PRAD-US 3 8944154 8944154 single base substitution C T 3_prime_UTR_variant PRAD-US 3 8944154 8944154 single base substitution C T exon_variant PRAD-US 3 8944154 8944154 single base substitution C T missense_variant G360R 1078G>A PRAD-US 3 8944154 8944154 single base substitution C T upstream_gene_variant RECA-EU 3 8815984 8815984 single base substitution G A downstream_gene_variant RECA-EU 3 8818126 8818126 single base substitution G T intron_variant RECA-EU 3 8821059 8821059 single base substitution C T intron_variant RECA-EU 3 8826428 8826428 single base substitution C T intron_variant RECA-EU 3 8864640 8864640 single base substitution T A intron_variant RECA-EU 3 8872321 8872321 single base substitution T G intron_variant RECA-EU 3 8874512 8874512 single base substitution A C intron_variant RECA-EU 3 8899741 8899741 single base substitution C A intron_variant RECA-EU 3 8909809 8909809 single base substitution A T intron_variant RECA-EU 3 8912723 8912723 single base substitution A G intron_variant RECA-EU 3 8919426 8919426 single base substitution C T 3_prime_UTR_variant RECA-EU 3 8919426 8919426 single base substitution C T downstream_gene_variant RECA-EU 3 8919426 8919426 single base substitution C T intron_variant RECA-EU 3 8925784 8925784 single base substitution C T intron_variant RECA-EU 3 8927772 8927772 single base substitution C G downstream_gene_variant RECA-EU 3 8927772 8927772 single base substitution C G intron_variant RECA-EU 3 8928240 8928240 single base substitution T A downstream_gene_variant RECA-EU 3 8928240 8928240 single base substitution T A intron_variant RECA-EU 3 8945634 8945634 single base substitution C A intron_variant RECA-EU 3 8945634 8945634 single base substitution C A upstream_gene_variant RECA-EU 3 8946150 8946150 single base substitution G A intron_variant RECA-EU 3 8946150 8946150 single base substitution G A upstream_gene_variant RECA-EU 3 8957071 8957071 single base substitution G A intron_variant RECA-EU 3 8957071 8957071 single base substitution G A upstream_gene_variant RECA-EU 3 8966765 8966765 single base substitution A C intron_variant RECA-EU 3 8970319 8970319 single base substitution T A intron_variant RECA-EU 3 8978696 8978696 single base substitution T C downstream_gene_variant RECA-EU 3 8978696 8978696 single base substitution T C intron_variant RECA-EU 3 8980070 8980070 single base substitution C A downstream_gene_variant RECA-EU 3 8980070 8980070 single base substitution C A intron_variant RECA-EU 3 8985077 8985077 single base substitution A C downstream_gene_variant RECA-EU 3 8985077 8985077 single base substitution A C intron_variant RECA-EU 3 8999149 8999149 single base substitution A G intron_variant RECA-EU 3 9009026 9009026 single base substitution A T upstream_gene_variant SKCA-BR 3 8812892 8812892 single base substitution T G downstream_gene_variant SKCA-BR 3 8813927 8813927 single base substitution A G downstream_gene_variant SKCA-BR 3 8814159 8814159 single base substitution C T downstream_gene_variant SKCA-BR 3 8814171 8814171 single base substitution G A downstream_gene_variant SKCA-BR 3 8814172 8814172 single base substitution G A downstream_gene_variant SKCA-BR 3 8814824 8814824 single base substitution T A downstream_gene_variant SKCA-BR 3 8814934 8814943 deletion of <=200bp TATCTATATA - downstream_gene_variant SKCA-BR 3 8815005 8815005 single base substitution G T downstream_gene_variant SKCA-BR 3 8815491 8815491 single base substitution C T downstream_gene_variant SKCA-BR 3 8815640 8815640 single base substitution G A downstream_gene_variant SKCA-BR 3 8815671 8815671 single base substitution C T downstream_gene_variant SKCA-BR 3 8815876 8815876 single base substitution A C downstream_gene_variant SKCA-BR 3 8817294 8817294 single base substitution G A missense_variant P117L 350C>T SKCA-BR 3 8821269 8821269 single base substitution G A intron_variant SKCA-BR 3 8821742 8821742 single base substitution A G intron_variant SKCA-BR 3 8822762 8822762 single base substitution G A intron_variant SKCA-BR 3 8822927 8822927 single base substitution G A intron_variant SKCA-BR 3 8823330 8823330 single base substitution G A intron_variant SKCA-BR 3 8827796 8827796 single base substitution G A intron_variant SKCA-BR 3 8829138 8829138 single base substitution C T intron_variant SKCA-BR 3 8830095 8830095 single base substitution G A intron_variant SKCA-BR 3 8831029 8831029 single base substitution C T intron_variant SKCA-BR 3 8831508 8831508 single base substitution C T intron_variant SKCA-BR 3 8832602 8832602 single base substitution G A intron_variant SKCA-BR 3 8833301 8833301 single base substitution C T intron_variant SKCA-BR 3 8834282 8834282 single base substitution A T intron_variant SKCA-BR 3 8834900 8834900 single base substitution G A intron_variant SKCA-BR 3 8835551 8835551 single base substitution G C intron_variant SKCA-BR 3 8836283 8836283 single base substitution G A intron_variant SKCA-BR 3 8837727 8837727 single base substitution G A intron_variant SKCA-BR 3 8838294 8838294 single base substitution T C intron_variant SKCA-BR 3 8838314 8838314 single base substitution C T intron_variant SKCA-BR 3 8838452 8838452 single base substitution C G intron_variant SKCA-BR 3 8839782 8839782 single base substitution T C intron_variant SKCA-BR 3 8839919 8839920 deletion of <=200bp GT - intron_variant SKCA-BR 3 8839922 8839922 single base substitution T C intron_variant SKCA-BR 3 8841169 8841169 single base substitution T C intron_variant SKCA-BR 3 8841612 8841612 single base substitution A G intron_variant SKCA-BR 3 8842461 8842461 single base substitution G A intron_variant SKCA-BR 3 8843768 8843768 insertion of <=200bp - AATATACATATACATATAC intron_variant SKCA-BR 3 8843796 8843796 single base substitution C T intron_variant SKCA-BR 3 8844927 8844927 single base substitution G A intron_variant SKCA-BR 3 8845319 8845320 deletion of <=200bp CA - intron_variant SKCA-BR 3 8845493 8845493 single base substitution C T intron_variant SKCA-BR 3 8845788 8845788 single base substitution G A intron_variant SKCA-BR 3 8846625 8846625 single base substitution G A intron_variant SKCA-BR 3 8850232 8850232 single base substitution G A intron_variant SKCA-BR 3 8850560 8850560 single base substitution G A intron_variant SKCA-BR 3 8852384 8852384 single base substitution T C intron_variant SKCA-BR 3 8854593 8854593 single base substitution G A intron_variant SKCA-BR 3 8854841 8854841 single base substitution G A intron_variant SKCA-BR 3 8856379 8856379 single base substitution C A intron_variant SKCA-BR 3 8856665 8856665 single base substitution G A intron_variant SKCA-BR 3 8858277 8858277 single base substitution C T intron_variant SKCA-BR 3 8859554 8859554 single base substitution G A intron_variant SKCA-BR 3 8860442 8860442 single base substitution C T intron_variant SKCA-BR 3 8860772 8860772 single base substitution G A intron_variant SKCA-BR 3 8860953 8860953 single base substitution C T intron_variant SKCA-BR 3 8861033 8861033 single base substitution G A intron_variant SKCA-BR 3 8864129 8864129 single base substitution G A intron_variant SKCA-BR 3 8864130 8864130 single base substitution G A intron_variant SKCA-BR 3 8864632 8864632 single base substitution A G intron_variant SKCA-BR 3 8867060 8867060 single base substitution G A intron_variant SKCA-BR 3 8869473 8869473 single base substitution G A intron_variant SKCA-BR 3 8870133 8870133 single base substitution G A intron_variant SKCA-BR 3 8872125 8872125 insertion of <=200bp - CA intron_variant SKCA-BR 3 8872694 8872694 single base substitution A C intron_variant SKCA-BR 3 8876595 8876595 single base substitution G A intron_variant SKCA-BR 3 8877068 8877068 single base substitution C T intron_variant SKCA-BR 3 8877152 8877152 single base substitution G A intron_variant SKCA-BR 3 8877153 8877153 single base substitution A G intron_variant SKCA-BR 3 8877578 8877578 single base substitution G C intron_variant SKCA-BR 3 8877996 8877996 single base substitution T C intron_variant SKCA-BR 3 8881962 8881962 single base substitution G A intron_variant SKCA-BR 3 8882663 8882663 single base substitution G A intron_variant SKCA-BR 3 8887585 8887585 single base substitution C T intron_variant SKCA-BR 3 8889365 8889365 single base substitution A C intron_variant SKCA-BR 3 8891609 8891609 insertion of <=200bp - CT intron_variant SKCA-BR 3 8891774 8891774 insertion of <=200bp - CT intron_variant SKCA-BR 3 8892589 8892589 single base substitution G A intron_variant SKCA-BR 3 8894198 8894198 single base substitution G A intron_variant SKCA-BR 3 8899635 8899635 single base substitution T G intron_variant SKCA-BR 3 8902377 8902377 single base substitution G A intron_variant SKCA-BR 3 8904909 8904909 single base substitution G A intron_variant SKCA-BR 3 8906792 8906792 single base substitution T C intron_variant SKCA-BR 3 8909302 8909302 single base substitution G A intron_variant SKCA-BR 3 8910117 8910117 insertion of <=200bp - TA intron_variant SKCA-BR 3 8911889 8911889 single base substitution G A intron_variant SKCA-BR 3 8913896 8913896 single base substitution G A downstream_gene_variant SKCA-BR 3 8913896 8913896 single base substitution G A intron_variant SKCA-BR 3 8916053 8916053 single base substitution G A downstream_gene_variant SKCA-BR 3 8916053 8916053 single base substitution G A intron_variant SKCA-BR 3 8920387 8920387 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 8920387 8920387 single base substitution G A downstream_gene_variant SKCA-BR 3 8920387 8920387 single base substitution G A intron_variant SKCA-BR 3 8925229 8925229 single base substitution G A intron_variant SKCA-BR 3 8927328 8927328 single base substitution G A downstream_gene_variant SKCA-BR 3 8927328 8927328 single base substitution G A intron_variant SKCA-BR 3 8928924 8928924 single base substitution T C downstream_gene_variant SKCA-BR 3 8928924 8928924 single base substitution T C intron_variant SKCA-BR 3 8932448 8932448 single base substitution A G intron_variant SKCA-BR 3 8933892 8933892 single base substitution G A intron_variant SKCA-BR 3 8936340 8936340 single base substitution G A intron_variant SKCA-BR 3 8939057 8939057 single base substitution C T intron_variant SKCA-BR 3 8939203 8939203 single base substitution G A intron_variant SKCA-BR 3 8941328 8941328 single base substitution A T intron_variant SKCA-BR 3 8945557 8945557 single base substitution C T intron_variant SKCA-BR 3 8945557 8945557 single base substitution C T upstream_gene_variant SKCA-BR 3 8945614 8945614 single base substitution C T intron_variant SKCA-BR 3 8945614 8945614 single base substitution C T upstream_gene_variant SKCA-BR 3 8946036 8946036 single base substitution A T intron_variant SKCA-BR 3 8946036 8946036 single base substitution A T upstream_gene_variant SKCA-BR 3 8948187 8948187 single base substitution C T intron_variant SKCA-BR 3 8948187 8948187 single base substitution C T upstream_gene_variant SKCA-BR 3 8952203 8952203 single base substitution A T intron_variant SKCA-BR 3 8952614 8952614 single base substitution A G intron_variant SKCA-BR 3 8955389 8955389 single base substitution C T intron_variant SKCA-BR 3 8955389 8955389 single base substitution C T missense_variant R302Q 905G>A SKCA-BR 3 8955389 8955389 single base substitution C T upstream_gene_variant SKCA-BR 3 8956371 8956371 single base substitution C A intron_variant SKCA-BR 3 8956371 8956371 single base substitution C A upstream_gene_variant SKCA-BR 3 8956849 8956849 single base substitution G A intron_variant SKCA-BR 3 8956849 8956849 single base substitution G A upstream_gene_variant SKCA-BR 3 8957498 8957498 single base substitution A C intron_variant SKCA-BR 3 8957498 8957498 single base substitution A C upstream_gene_variant SKCA-BR 3 8958075 8958075 single base substitution G A intron_variant SKCA-BR 3 8958075 8958075 single base substitution G A upstream_gene_variant SKCA-BR 3 8961016 8961016 single base substitution A T intron_variant SKCA-BR 3 8961420 8961420 single base substitution G A intron_variant SKCA-BR 3 8961894 8961894 single base substitution C T intron_variant SKCA-BR 3 8962351 8962352 deletion of <=200bp TA - intron_variant SKCA-BR 3 8962510 8962510 single base substitution T C intron_variant SKCA-BR 3 8963127 8963127 single base substitution G A intron_variant SKCA-BR 3 8963756 8963756 single base substitution G A intron_variant SKCA-BR 3 8964074 8964074 single base substitution A G intron_variant SKCA-BR 3 8966126 8966126 single base substitution G C intron_variant SKCA-BR 3 8966448 8966448 single base substitution A G intron_variant SKCA-BR 3 8967896 8967896 single base substitution A G intron_variant SKCA-BR 3 8968413 8968413 single base substitution G A intron_variant SKCA-BR 3 8969734 8969734 single base substitution A G intron_variant SKCA-BR 3 8970441 8970441 single base substitution T C intron_variant SKCA-BR 3 8972301 8972301 single base substitution A G intron_variant SKCA-BR 3 8976779 8976779 single base substitution G A intron_variant SKCA-BR 3 8978571 8978571 single base substitution G C downstream_gene_variant SKCA-BR 3 8978571 8978571 single base substitution G C intron_variant SKCA-BR 3 8983865 8983865 single base substitution T A downstream_gene_variant SKCA-BR 3 8983865 8983865 single base substitution T A intron_variant SKCA-BR 3 8985343 8985343 single base substitution A T downstream_gene_variant SKCA-BR 3 8985343 8985343 single base substitution A T intron_variant SKCA-BR 3 8985459 8985459 single base substitution T A downstream_gene_variant SKCA-BR 3 8985459 8985459 single base substitution T A intron_variant SKCA-BR 3 8994025 8994025 single base substitution C T intron_variant SKCA-BR 3 8999767 8999767 single base substitution A G intron_variant SKCA-BR 3 9001844 9001844 single base substitution C T intron_variant SKCA-BR 3 9003493 9003493 single base substitution C A intron_variant SKCA-BR 3 9008032 9008032 single base substitution G A upstream_gene_variant SKCA-BR 3 9009462 9009462 single base substitution C T upstream_gene_variant SKCM-US 3 8940727 8940727 single base substitution C T 3_prime_UTR_variant SKCM-US 3 8940727 8940727 single base substitution C T exon_variant SKCM-US 3 8940727 8940727 single base substitution C T synonymous_variant Q27Q 81G>A SKCM-US 3 8940727 8940727 single base substitution C T synonymous_variant Q391Q 1173G>A SKCM-US 3 8940727 8940727 single base substitution C T synonymous_variant Q8Q 24G>A SKCM-US 3 8977647 8977647 single base substitution G A exon_variant SKCM-US 3 8977647 8977647 single base substitution G A missense_variant S266F 797C>T SKCM-US 3 8977684 8977684 single base substitution G A exon_variant SKCM-US 3 8977684 8977684 single base substitution G A missense_variant R254C 760C>T SKCM-US 3 8983221 8983221 single base substitution G A 3_prime_UTR_variant SKCM-US 3 8983221 8983221 single base substitution G A downstream_gene_variant SKCM-US 3 8983221 8983221 single base substitution G A exon_variant SKCM-US 3 8983221 8983221 single base substitution G A synonymous_variant I178I 534C>T SKCM-US 3 8983349 8983349 single base substitution A T 3_prime_UTR_variant SKCM-US 3 8983349 8983349 single base substitution A T downstream_gene_variant SKCM-US 3 8983349 8983349 single base substitution A T exon_variant SKCM-US 3 8983349 8983349 single base substitution A T missense_variant F136I 406T>A SKCM-US 3 8983456 8983456 single base substitution G A 3_prime_UTR_variant SKCM-US 3 8983456 8983456 single base substitution G A downstream_gene_variant SKCM-US 3 8983456 8983456 single base substitution G A exon_variant SKCM-US 3 8983456 8983456 single base substitution G A missense_variant P100L 299C>T STAD-US 3 8932127 8932127 single base substitution G A 3_prime_UTR_variant STAD-US 3 8932127 8932127 single base substitution G A exon_variant STAD-US 3 8932127 8932127 single base substitution G A missense_variant S444L 1331C>T STAD-US 3 8932127 8932127 single base substitution G A missense_variant S61L 182C>T STAD-US 3 8932127 8932127 single base substitution G A missense_variant S80L 239C>T STAD-US 3 8944121 8944121 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 3 8944121 8944121 deletion of <=200bp T - exon_variant STAD-US 3 8944121 8944121 deletion of <=200bp T - frameshift_variant T371 STAD-US 3 8944121 8944121 deletion of <=200bp T - frameshift_variant T7 STAD-US 3 8944121 8944121 deletion of <=200bp T - upstream_gene_variant STAD-US 3 8944129 8944129 single base substitution G A 3_prime_UTR_variant STAD-US 3 8944129 8944129 single base substitution G A exon_variant STAD-US 3 8944129 8944129 single base substitution G A missense_variant S368L 1103C>T STAD-US 3 8944129 8944129 single base substitution G A missense_variant S4L 11C>T STAD-US 3 8944129 8944129 single base substitution G A upstream_gene_variant STAD-US 3 8977591 8977591 single base substitution A G exon_variant STAD-US 3 8977591 8977591 single base substitution A G missense_variant Y285H 853T>C STAD-US 3 8983301 8983301 single base substitution C A 3_prime_UTR_variant STAD-US 3 8983301 8983301 single base substitution C A downstream_gene_variant STAD-US 3 8983301 8983301 single base substitution C A exon_variant STAD-US 3 8983301 8983301 single base substitution C A stop_gained E152* 454G>T STAD-US 3 8990233 8990233 single base substitution T G exon_variant STAD-US 3 8990233 8990233 single base substitution T G intron_variant STAD-US 3 8990233 8990233 single base substitution T G missense_variant K52T 155A>C STAD-US 3 9000630 9000630 single base substitution A G exon_variant STAD-US 3 9000630 9000630 single base substitution A G intron_variant STAD-US 3 9000630 9000630 single base substitution A G missense_variant M36T 107T>C THCA-US 3 8990195 8990195 single base substitution C T intron_variant THCA-US 3 8990195 8990195 single base substitution C T missense_variant V65M 193G>A THCA-US 3 8990195 8990195 single base substitution C T splice_region_variant UCEC-US 3 8923054 8923054 single base substitution C T 3_prime_UTR_variant UCEC-US 3 8923054 8923054 single base substitution C T downstream_gene_variant UCEC-US 3 8923054 8923054 single base substitution C T intron_variant UCEC-US 3 8923054 8923054 single base substitution C T missense_variant R492H 1475G>A UCEC-US 3 8940615 8940615 single base substitution C A 3_prime_UTR_variant UCEC-US 3 8940615 8940615 single base substitution C A exon_variant UCEC-US 3 8940615 8940615 single base substitution C A stop_gained E429* 1285G>T UCEC-US 3 8940615 8940615 single base substitution C A stop_gained E46* 136G>T UCEC-US 3 8940615 8940615 single base substitution C A stop_gained E65* 193G>T UCEC-US 3 8940666 8940666 single base substitution C T 3_prime_UTR_variant UCEC-US 3 8940666 8940666 single base substitution C T exon_variant UCEC-US 3 8940666 8940666 single base substitution C T missense_variant E29K 85G>A UCEC-US 3 8940666 8940666 single base substitution C T missense_variant E412K 1234G>A UCEC-US 3 8940666 8940666 single base substitution C T missense_variant E48K 142G>A UCEC-US 3 8944096 8944098 deletion of <=200bp TCA - 3_prime_UTR_variant UCEC-US 3 8944096 8944098 deletion of <=200bp TCA - disruptive_inframe_deletion DE14E UCEC-US 3 8944096 8944098 deletion of <=200bp TCA - disruptive_inframe_deletion DE378E UCEC-US 3 8944096 8944098 deletion of <=200bp TCA - exon_variant UCEC-US 3 8944096 8944098 deletion of <=200bp TCA - upstream_gene_variant UCEC-US 3 8955356 8955356 single base substitution C T intron_variant UCEC-US 3 8955356 8955356 single base substitution C T missense_variant R313H 938G>A UCEC-US 3 8955356 8955356 single base substitution C T upstream_gene_variant UCEC-US 3 8983271 8983271 single base substitution C A 3_prime_UTR_variant UCEC-US 3 8983271 8983271 single base substitution C A downstream_gene_variant UCEC-US 3 8983271 8983271 single base substitution C A exon_variant UCEC-US 3 8983271 8983271 single base substitution C A stop_gained E162* 484G>T UCEC-US 3 8990234 8990234 single base substitution T G exon_variant UCEC-US 3 8990234 8990234 single base substitution T G intron_variant UCEC-US 3 8990234 8990234 single base substitution T G missense_variant K52Q 154A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-A8-A09Z-01 COSM3824693 c.904C>T p.R302* Substitution - Nonsense 3:8913706-8913706 - LUAD-S01345 COSM397252 c.1393C>G p.L465V Substitution - Missense 3:8881452-8881452 - TCGA-AU-6004-01 COSM1425615 c.1430G>A p.R477H Substitution - Missense 3:8881415-8881415 - TCGA-A3-3316-01 COSM1495603 c.1115T>A p.V372E Substitution - Missense 3:8902433-8902433 - LUAD-74TBW COSM355172 c.700A>G p.R234G Substitution - Missense 3:8939558-8939558 - TCGA-D1-A16G-01 COSM1048867 c.1134_1136delTGA p.D378delD Deletion - In frame 3:8902412-8902414 - B109-Tumor COSM1753405 c.88G>C p.E30Q Substitution - Missense 3:8958965-8958965 - HCC030T COSM5815923 c.334C>T p.L112F Substitution - Missense 3:8941737-8941737 - PCSI_0002_Pa_X COSM291196 c.265C>T p.R89W Substitution - Missense 3:8947221-8947221 - TCGA-BR-8591-01 COSM4120489 c.1103C>T p.S368L Substitution - Missense 3:8902445-8902445 - B109 COSM1753405 c.88G>C p.E30Q Substitution - Missense 3:8958965-8958965 - TCGA-EJ-A65B-01 COSM4393534 c.1078G>A p.G360R Substitution - Missense 3:8902470-8902470 - sysucc-311T COSM5465984 c.1390G>A p.D464N Substitution - Missense 3:8881455-8881455 - T3094 COSM4719944 c.704+2T>C p.? Unknown 3:8939552-8939552 - TCGA-DA-A1I0-06 COSM3597901 c.534C>T p.I178I Substitution - coding silent 3:8941537-8941537 - HCC2998 COSM1669938 c.155A>C p.K52T Substitution - Missense 3:8948549-8948549 - TCGA-E2-A14S-01 COSM447080 c.269A>T p.N90I Substitution - Missense 3:8941802-8941802 - TCGA-EE-A185-06 COSM3597900 c.760C>T p.R254C Substitution - Missense 3:8936000-8936000 - STC252 COSM291196 c.265C>T p.R89W Substitution - Missense 3:8947221-8947221 - 111 COSM2828434 c.572C>T p.P191L Substitution - Missense 3:8941499-8941499 - TCGA-B5-A0JY-01 COSM1048863 c.1285G>T p.E429* Substitution - Nonsense 3:8898931-8898931 - PD18048a COSM5797112 c.267G>A p.R89R Substitution - coding silent 3:8941804-8941804 - TCGA-BR-8680-01 COSM2828438 c.454G>T p.E152* Substitution - Nonsense 3:8941617-8941617 - 56572 COSM1582967 c.1016A>G p.H339R Substitution - Missense 3:8912323-8912323 - sysucc-1370T COSM5471798 c.676C>T p.R226C Substitution - Missense 3:8939582-8939582 - 587332 COSM1222980 c.857A>G p.N286S Substitution - Missense 3:8935903-8935903 - ATL019 COSM5708929 c.844G>A p.V282I Substitution - Missense 3:8935916-8935916 - TCGA-A6-6653-01 COSM1425704 c.310_312delCCT p.P104delP Deletion - In frame 3:8941759-8941761 - MT-198-T2 COSM5651342 c.399G>T p.M133I Substitution - Missense 3:8941672-8941672 - TCGA-AX-A0J1-01 COSM1048845 c.1475G>A p.R492H Substitution - Missense 3:8881370-8881370 - HDC87 COSM4637094 c.452A>T p.K151I Substitution - Missense 3:8941619-8941619 - LUAD-RT-S01813 COSM383335 c.616G>T p.V206F Substitution - Missense 3:8939642-8939642 - TCGA-AA-3663-01 COSM1425616 c.1323T>C p.S441S Substitution - coding silent 3:8890451-8890451 - CR108 COSM4994767 c.1237T>A p.L413M Substitution - Missense 3:8898979-8898979 - 587222 COSM1222978 c.679G>A p.E227K Substitution - Missense 3:8939579-8939579 - TCGA-EE-A20C-06 COSM3597899 c.797C>T p.S266F Substitution - Missense 3:8935963-8935963 - TCGA-AZ-4315-01 COSM1425701 c.535G>A p.A179T Substitution - Missense 3:8941536-8941536 - TCGA-BR-8678-01 COSM4120482 c.1331C>T p.S444L Substitution - Missense 3:8890443-8890443 - TCGA-BR-4361-01 COSM4120506 c.853T>C p.Y285H Substitution - Missense 3:8935907-8935907 - TCGA-AX-A0J1-01 COSM1048887 c.938G>A p.R313H Substitution - Missense 3:8913672-8913672 - TCGA-FS-A4F5-06 COSM3597883 c.1173G>A p.Q391Q Substitution - coding silent 3:8899043-8899043 - TCGA-A5-A0GP-01 COSM1048891 c.154A>C p.K52Q Substitution - Missense 3:8948550-8948550 - MZ7-mel COSM13910 c.604+1G>A p.? Unknown 3:8941466-8941466 - 587222 COSM1222979 c.418G>T p.E140* Substitution - Nonsense 3:8941653-8941653 - HT115 COSM2828437 c.504G>A p.K168K Substitution - coding silent 3:8941567-8941567 - MZ7-mel COSM13910 c.604+1G>A p.? Unknown 3:8941466-8941466 - TCGA-BJ-A0Z3-01 COSM3373305 c.193G>A p.V65M Substitution - Missense 3:8948511-8948511 - TCGA-BR-8680-01 COSM1669938 c.155A>C p.K52T Substitution - Missense 3:8948549-8948549 - PD24205a COSM5787282 c.45C>G p.V15V Substitution - coding silent 3:8963341-8963341 - PT49 COSM5934809 c.545C>T p.P182L Substitution - Missense 3:8941526-8941526 - T2932 COSM4719945 c.177G>A p.Q59Q Substitution - coding silent 3:8948527-8948527 - 587376 COSM1222981 c.818A>C p.Q273P Substitution - Missense 3:8935942-8935942 - TCGA-B5-A11O-01 COSM1048847 c.1426C>A p.R476S Substitution - Missense 3:8881419-8881419 - TCGA-CA-6718-01 COSM1425672 c.808A>C p.N270H Substitution - Missense 3:8935952-8935952 - TCGA-EB-A5UN-06 COSM3597902 c.406T>A p.F136I Substitution - Missense 3:8941665-8941665 - PT49 COSM5934810 c.544C>T p.P182S Substitution - Missense 3:8941527-8941527 - TCGA-D8-A27V-01 COSM3824688 c.1393C>A p.L465I Substitution - Missense 3:8881452-8881452 - QC2-32-T2 COSM5653959 c.905G>A p.R302Q Substitution - Missense 3:8913705-8913705 - T3090 COSM4719943 c.725C>T p.P242L Substitution - Missense 3:8936035-8936035 - PT19_1 COSM5899444 c.1386-6C>A p.? Unknown 3:8881465-8881465 - C99 COSM4620462 c.23G>A p.R8Q Substitution - Missense 3:8963363-8963363 - YUFIT COSM5400070 c.1169-1G>A p.? Unknown 3:8899048-8899048 - DN12101 COSM5797112 c.267G>A p.R89R Substitution - coding silent 3:8941804-8941804 - 522_T COSM3945746 c.823A>C p.I275L Substitution - Missense 3:8935937-8935937 - HCC2998 COSM1669938 c.155A>C p.K52T Substitution - Missense 3:8948549-8948549 - SW48 COSM4656395 c.41C>T p.A14V Substitution - Missense 3:8963345-8963345 - PT15_1 COSM5897460 c.320C>T p.S107F Substitution - Missense 3:8941751-8941751 - TCGA-EE-A2GO-06 COSM3597903 c.299C>T p.P100L Substitution - Missense 3:8941772-8941772 - TCGA-B6-A0IO-01 COSM447074 c.1348C>T p.L450F Substitution - Missense 3:8890426-8890426 - 8016470 COSM3392614 c.227G>A p.R76H Substitution - Missense 3:8947259-8947259 - 587376 COSM180251 c.838G>T p.E280* Substitution - Nonsense 3:8935922-8935922 - TCGA-A6-2677-01 COSM291196 c.265C>T p.R89W Substitution - Missense 3:8947221-8947221 - D16 COSM5007104 c.1151T>A p.L384Q Substitution - Missense 3:8902397-8902397 - 19 COSM3392614 c.227G>A p.R76H Substitution - Missense 3:8947259-8947259 - TCGA-DK-A1AA-01 COSM1309504 c.206A>G p.E69G Substitution - Missense 3:8947280-8947280 - RK308_C01 COSM3767590 c.117T>G p.P39P Substitution - coding silent 3:8958936-8958936 - TCGA-C8-A1HJ-01 COSM5834751 c.983delA p.K328fs*8 Deletion - Frameshift 3:8912356-8912356 - I2L-P23-Tumor-Organoid COSM5355407 c.1027+1G>A p.? Unknown 3:8912311-8912311 - Au9 COSM5607590 c.1057C>T p.L353L Substitution - coding silent 3:8902491-8902491 - TCGA-AX-A0J0-01 COSM1048889 c.484G>T p.E162* Substitution - Nonsense 3:8941587-8941587 - TCGA-13-1507-01 COSM76154 c.1466G>C p.R489T Substitution - Missense 3:8881379-8881379 - BCM671T COSM4955579 c.150A>G p.I50M Substitution - Missense 3:8948554-8948554 - AOCS-152-1-X COSM4150358 c.1239G>A p.L413L Substitution - coding silent 3:8898977-8898977 - TCGA-24-1471-01 COSM80419 c.45C>T p.V15V Substitution - coding silent 3:8963341-8963341 - TCGA-HU-A4H4-01 COSM4120507 c.107T>C p.M36T Substitution - Missense 3:8958946-8958946 - BCM671T COSM4955579 c.150A>G p.I50M Substitution - Missense 3:8948554-8948554 - TCGA-CM-6162-01 COSM1425617 c.1126A>G p.K376E Substitution - Missense 3:8902422-8902422 - T97 COSM238055 c.1017C>T p.H339H Substitution - coding silent 3:8912322-8912322 - TCGA-AZ-4315-01 COSM1222978 c.679G>A p.E227K Substitution - Missense 3:8939579-8939579 - TCGA-AP-A0LM-01 COSM1048865 c.1234G>A p.E412K Substitution - Missense 3:8898982-8898982 - TCGA-66-2785-01 COSM731467 c.1307C>A p.S436* Substitution - Nonsense 3:8898909-8898909 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.375664;Hs.375684 3p25-p24 605256

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - IntronicDeletion . c.266+179delA 3 8988725 HC C A IntronicSNV . c.1385+2440G>T 3 8929633 CLL C A Missense p.S348I c.1043G>T 3 8944189 HNSC C A Nonsense p.E414* c.1240G>T 3 8940660 HNSC C G Missense p.R489T c.1466G>C 3 8923063 OV C T Missense p.G360R c.1078G>A 3 8944154 PRAD C T Missense p.V65M c.193G>A 3 8990195 THCA G A IntronicSNV . c.967-54C>T 3 8954110 CM G A Missense p.L450F c.1348C>T 3 8932110 BRCA G A Missense p.P100L c.299C>T 3 8983456 CM G A Missense p.P410L c.1229C>T 3 8940671 LUAD G A Missense p.R254C c.760C>T 3 8977684 CM G A Missense p.R89W c.265C>T 3 8988905 COREAD G A Missense p.S192L c.575C>T 3 8983180 MM G A Missense p.S266F c.797C>T 3 8977647 CM G A Synonymous p.G12G c.36C>T 3 9005034 COREAD G A Synonymous p.I178I c.534C>T 3 8983221 CM G A Synonymous p.S409S c.1227C>T 3 8940673 CM G A Synonymous p.V15V c.45C>T 3 9005025 OV G C 3-UTRSNV . c.1485+151C>G 3 8922893 CM G C Missense p.S252C c.755C>G 3 8977689 LUAD G C Missense p.S432C c.1295C>G 3 8940605 MM T A Missense p.N90I c.269A>T 3 8983486 BRCA TCA - InFrameDeletion p.D378delD c.1134_1136delTGA 3 8944096 UCEC T C IntronicSNV . c.1385+261A>G 3 8931812 HC T C Missense p.E69G c.206A>G 3 8988964 BLCA T G 3-UTRSNV . c.1485+930A>C 3 8922114 HC T G Missense p.K52Q c.154A>C 3 8990234 UCEC