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 8 11405588 11405588 + Silent SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 g.chr8:11405588C>A c.223C>A c.(223-225)Cgg>Agg p.R75R BLCA 8 11407730 11407731 + Frame_Shift_Ins INS - - GGCCG TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr8:11407730_11407731insGGCCG c.431_432insGGCCG c.(430-435)aaggccfs p.-146fs BLCA 8 11414244 11414244 + Missense_Mutation SNP G G C TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr8:11414244G>C c.850G>C c.(850-852)Gag>Cag p.E284Q BLCA 8 11415490 11415490 + Silent SNP G G A TCGA-BT-A42F-01A-11D-A23U-08 TCGA-BT-A42F-10A-01D-A23U-08 g.chr8:11415490G>A c.972G>A c.(970-972)ctG>ctA p.L324L BRCA 8 11400751 11400752 + Frame_Shift_Ins INS - - A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 g.chr8:11400751_11400752insA c.18_19insA c.(19-21)aaafs p.K7fs BRCA 8 11405607 11405608 + Frame_Shift_Ins INS - - G TCGA-A8-A07B-01A-11W-A019-09 TCGA-A8-A07B-10A-01W-A021-09 g.chr8:11405607_11405608insG c.242_243insG c.(241-246)aaggggfs p.KG81fs BRCA 8 11412257 11412257 + Frame_Shift_Del DEL T T - TCGA-OL-A5S0-01A-11D-A28B-09 TCGA-OL-A5S0-10A-01D-A28E-09 g.chr8:11412257delT c.478delT c.(478-480)ttcfs p.F160fs BRCA 8 11412359 11412359 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 g.chr8:11412359A>C c.580A>C c.(580-582)Acc>Ccc p.T194P BRCA 8 11412989 11412989 + Missense_Mutation SNP G G T TCGA-A2-A25B-01A-11D-A167-09 TCGA-A2-A25B-10A-01D-A167-09 g.chr8:11412989G>T c.768G>T c.(766-768)tgG>tgT p.W256C BRCA 8 11418950 11418950 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 g.chr8:11418950C>T c.1169C>T c.(1168-1170)aCg>aTg p.T390M CHOL 8 11412317 11412317 + Missense_Mutation SNP C C T TCGA-W5-AA2I-01A-32D-A417-09 TCGA-W5-AA2I-10A-01D-A41A-09 g.chr8:11412317C>T c.538C>T c.(538-540)Cgc>Tgc p.R180C CHOL 8 11415529 11415529 + Silent SNP G G T TCGA-W5-AA2U-01A-11D-A417-09 TCGA-W5-AA2U-10A-01D-A41A-09 g.chr8:11415529G>T c.1011G>T c.(1009-1011)ctG>ctT p.L337L COAD 8 11400835 11400835 + Silent SNP C C T TCGA-AA-3667-01A-01W-0900-09 TCGA-AA-3667-10A-01W-0900-09 g.chr8:11400835C>T c.102C>T c.(100-102)gaC>gaT p.D34D COAD 8 11406564 11406564 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr8:11406564G>A c.301G>A c.(301-303)Gtc>Atc p.V101I COAD 8 11407734 11407734 + Silent SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr8:11407734C>T c.435C>T c.(433-435)gcC>gcT p.A145A COAD 8 11412389 11412389 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr8:11412389C>T c.610C>T c.(610-612)Cac>Tac p.H204Y COAD 8 11412914 11412914 + Missense_Mutation SNP G G T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr8:11412914G>T c.693G>T c.(691-693)caG>caT p.Q231H COAD 8 11412977 11412977 + Silent SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr8:11412977C>T c.756C>T c.(754-756)ttC>ttT p.F252F COAD 8 11415522 11415522 + Missense_Mutation SNP C C T TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr8:11415522C>T c.1004C>T c.(1003-1005)cCa>cTa p.P335L COAD 8 11420604 11420604 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr8:11420604C>T c.1297C>T c.(1297-1299)Cgg>Tgg p.R433W COADREAD 8 11400835 11400835 + Silent SNP C C T TCGA-AA-3667-01A-01W-0900-09 TCGA-AA-3667-10A-01W-0900-09 g.chr8:11400835C>T c.102C>T c.(100-102)gaC>gaT p.D34D COADREAD 8 11406564 11406564 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr8:11406564G>A c.301G>A c.(301-303)Gtc>Atc p.V101I COADREAD 8 11407734 11407734 + Silent SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr8:11407734C>T c.435C>T c.(433-435)gcC>gcT p.A145A COADREAD 8 11412389 11412389 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr8:11412389C>T c.610C>T c.(610-612)Cac>Tac p.H204Y COADREAD 8 11412914 11412914 + Missense_Mutation SNP G G T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr8:11412914G>T c.693G>T c.(691-693)caG>caT p.Q231H COADREAD 8 11412977 11412977 + Silent SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr8:11412977C>T c.756C>T c.(754-756)ttC>ttT p.F252F COADREAD 8 11415522 11415522 + Missense_Mutation SNP C C T TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr8:11415522C>T c.1004C>T c.(1003-1005)cCa>cTa p.P335L COADREAD 8 11420487 11420487 + Splice_Site SNP G G A TCGA-CL-5918-01A-11D-1657-10 TCGA-CL-5918-10A-01D-1657-10 g.chr8:11420487G>A c.e12-1 COADREAD 8 11420604 11420604 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr8:11420604C>T c.1297C>T c.(1297-1299)Cgg>Tgg p.R433W ESCA 8 11400805 11400805 + Frame_Shift_Del DEL C C - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr8:11400805delC c.72delC c.(70-72)agcfs p.S24fs ESCA 8 11407731 11407731 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr8:11407731G>C c.432G>C c.(430-432)aaG>aaC p.K144N ESCA 8 11412845 11412845 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr8:11412845delG c.624delG c.(622-624)aagfs p.K208fs ESCA 8 11414253 11414253 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 g.chr8:11414253G>A c.859G>A c.(859-861)Gtg>Atg p.V287M GBM 8 11400849 11400849 + Missense_Mutation SNP C C T TCGA-26-6174-01A-21D-1845-08 TCGA-26-6174-10A-01D-1845-08 g.chr8:11400849C>T c.116C>T c.(115-117)cCg>cTg p.P39L GBM 8 11406564 11406564 + Missense_Mutation SNP G G A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 g.chr8:11406564G>A c.301G>A c.(301-303)Gtc>Atc p.V101I GBMLGG 8 11400821 11400821 + Missense_Mutation SNP G G A TCGA-QH-A6X8-01A-12D-A32B-08 TCGA-QH-A6X8-10B-01D-A329-08 g.chr8:11400821G>A c.88G>A c.(88-90)Gcc>Acc p.A30T GBMLGG 8 11400849 11400849 + Missense_Mutation SNP C C T TCGA-26-6174-01A-21D-1845-08 TCGA-26-6174-10A-01D-1845-08 g.chr8:11400849C>T c.116C>T c.(115-117)cCg>cTg p.P39L GBMLGG 8 11400849 11400849 + Missense_Mutation SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 g.chr8:11400849C>T c.116C>T c.(115-117)cCg>cTg p.P39L GBMLGG 8 11406564 11406564 + Missense_Mutation SNP G G A TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 g.chr8:11406564G>A c.301G>A c.(301-303)Gtc>Atc p.V101I GBMLGG 8 11414294 11414294 + Silent SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 g.chr8:11414294C>T c.900C>T c.(898-900)taC>taT p.Y300Y GBMLGG 8 11418859 11418859 + Missense_Mutation SNP G G A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 g.chr8:11418859G>A c.1078G>A c.(1078-1080)Gac>Aac p.D360N HNSC 8 11412840 11412840 + Splice_Site SNP G G C TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 g.chr8:11412840G>C c.e8-1 HNSC 8 11418850 11418850 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 g.chr8:11418850A>G c.1069A>G c.(1069-1071)Atc>Gtc p.I357V KIPAN 8 11412365 11412365 + Missense_Mutation SNP C C T TCGA-B9-A8YH-01A-11D-A36X-10 TCGA-B9-A8YH-10A-01D-A370-10 g.chr8:11412365C>T c.586C>T c.(586-588)Ccc>Tcc p.P196S KIPAN 8 11412944 11412944 + Silent SNP C C G TCGA-A3-3326-01A-01D-0966-08 TCGA-A3-3326-11A-01D-0966-08 g.chr8:11412944C>G c.723C>G c.(721-723)ctC>ctG p.L241L KIPAN 8 11412980 11412980 + Silent SNP C C A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 g.chr8:11412980C>A c.759C>A c.(757-759)ggC>ggA p.G253G KIPAN 8 11415475 11415475 + Silent SNP C C T TCGA-CZ-4854-01A-01D-1373-10 TCGA-CZ-4854-11A-01D-1373-10 g.chr8:11415475C>T c.957C>T c.(955-957)tgC>tgT p.C319C KIRC 8 11412944 11412944 + Silent SNP C C G TCGA-A3-3326-01A-01D-0966-08 TCGA-A3-3326-11A-01D-0966-08 g.chr8:11412944C>G c.723C>G c.(721-723)ctC>ctG p.L241L KIRC 8 11412980 11412980 + Silent SNP C C A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 g.chr8:11412980C>A c.759C>A c.(757-759)ggC>ggA p.G253G KIRC 8 11415475 11415475 + Silent SNP C C T TCGA-CZ-4854-01A-01D-1373-10 TCGA-CZ-4854-11A-01D-1373-10 g.chr8:11415475C>T c.957C>T c.(955-957)tgC>tgT p.C319C KIRP 8 11412365 11412365 + Missense_Mutation SNP C C T TCGA-B9-A8YH-01A-11D-A36X-10 TCGA-B9-A8YH-10A-01D-A370-10 g.chr8:11412365C>T c.586C>T c.(586-588)Ccc>Tcc p.P196S LGG 8 11400821 11400821 + Missense_Mutation SNP G G A TCGA-QH-A6X8-01A-12D-A32B-08 TCGA-QH-A6X8-10B-01D-A329-08 g.chr8:11400821G>A c.88G>A c.(88-90)Gcc>Acc p.A30T LGG 8 11400849 11400849 + Missense_Mutation SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 g.chr8:11400849C>T c.116C>T c.(115-117)cCg>cTg p.P39L LGG 8 11414294 11414294 + Silent SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 g.chr8:11414294C>T c.900C>T c.(898-900)taC>taT p.Y300Y LGG 8 11418859 11418859 + Missense_Mutation SNP G G A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 g.chr8:11418859G>A c.1078G>A c.(1078-1080)Gac>Aac p.D360N LIHC 8 11420535 11420535 + Missense_Mutation SNP G G A TCGA-DD-A4NQ-01A-21D-A28X-10 TCGA-DD-A4NQ-10A-01D-A28X-10 g.chr8:11420535G>A c.1228G>A c.(1228-1230)Ggg>Agg p.G410R LUAD 8 11400748 11400748 + Missense_Mutation SNP T T A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr8:11400748T>A c.15T>A c.(13-15)agT>agA p.S5R LUAD 8 11400849 11400849 + Missense_Mutation SNP C C A TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr8:11400849C>A c.116C>A c.(115-117)cCg>cAg p.P39Q LUAD 8 11405588 11405588 + Silent SNP C C A TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr8:11405588C>A c.223C>A c.(223-225)Cgg>Agg p.R75R LUAD 8 11406563 11406563 + Silent SNP C C A TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr8:11406563C>A c.300C>A c.(298-300)ctC>ctA p.L100L LUAD 8 11406632 11406632 + Splice_Site SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 g.chr8:11406632G>A c.e5+1 LUAD 8 11412354 11412354 + Missense_Mutation SNP G G A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chr8:11412354G>A c.575G>A c.(574-576)cGg>cAg p.R192Q LUAD 8 11412861 11412861 + Nonsense_Mutation SNP C C T TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr8:11412861C>T c.640C>T c.(640-642)Cag>Tag p.Q214* LUAD 8 11412873 11412873 + Missense_Mutation SNP C C G TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr8:11412873C>G c.652C>G c.(652-654)Ctg>Gtg p.L218V LUAD 8 11412886 11412886 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 g.chr8:11412886G>C c.665G>C c.(664-666)cGc>cCc p.R222P LUAD 8 11412989 11412989 + Missense_Mutation SNP G G T TCGA-17-Z058-01A-01W-0747-08 TCGA-17-Z058-11A-01W-0747-08 g.chr8:11412989G>T c.768G>T c.(766-768)tgG>tgT p.W256C LUAD 8 11414294 11414294 + Silent SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 g.chr8:11414294C>T c.900C>T c.(898-900)taC>taT p.Y300Y LUAD 8 11415488 11415488 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr8:11415488C>A c.970C>A c.(970-972)Ctg>Atg p.L324M LUAD 8 11415514 11415514 + Missense_Mutation SNP G G T TCGA-J2-A4AD-01A-11D-A24D-08 TCGA-J2-A4AD-10A-01D-A24F-08 g.chr8:11415514G>T c.996G>T c.(994-996)ttG>ttT p.L332F LUAD 8 11418838 11418838 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr8:11418838C>A c.1057C>A c.(1057-1059)Cgc>Agc p.R353S LUAD 8 11418941 11418941 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr8:11418941G>T c.1160G>T c.(1159-1161)aGt>aTt p.S387I LUAD 8 11420536 11420536 + Missense_Mutation SNP G G T TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr8:11420536G>T c.1229G>T c.(1228-1230)gGg>gTg p.G410V LUAD 8 11420538 11420538 + Missense_Mutation SNP G G T TCGA-97-8174-01A-11D-2284-08 TCGA-97-8174-10A-01D-2284-08 g.chr8:11420538G>T c.1231G>T c.(1231-1233)Gtc>Ttc p.V411F LUAD 8 11421475 11421475 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr8:11421475C>T c.1376C>T c.(1375-1377)aCc>aTc p.T459I LUSC 8 11400774 11400774 + Missense_Mutation SNP C C T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 g.chr8:11400774C>T c.41C>T c.(40-42)cCg>cTg p.P14L LUSC 8 11403590 11403590 + Silent SNP G G T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr8:11403590G>T c.153G>T c.(151-153)ccG>ccT p.P51P LUSC 8 11412926 11412926 + Silent SNP G G A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 g.chr8:11412926G>A c.705G>A c.(703-705)gaG>gaA p.E235E LUSC 8 11414226 11414226 + Missense_Mutation SNP C C G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 g.chr8:11414226C>G c.832C>G c.(832-834)Cca>Gca p.P278A LUSC 8 11415529 11415529 + Silent SNP G G C TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr8:11415529G>C c.1011G>C c.(1009-1011)ctG>ctC p.L337L LUSC 8 11420487 11420487 + Splice_Site SNP G G A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 g.chr8:11420487G>A c.e12-1 LUSC 8 11421500 11421500 + Silent SNP C C G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr8:11421500C>G c.1401C>G c.(1399-1401)ggC>ggG p.G467G OV 8 11415521 11415521 + Missense_Mutation SNP C C T TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 g.chr8:11415521C>T c.1003C>T c.(1003-1005)Cca>Tca p.P335S PRAD 8 11421593 11421607 + In_Frame_Del DEL GCGGCAGTACGAGCT GCGGCAGTACGAGCT - TCGA-EJ-7115-01A-11D-2114-08 TCGA-EJ-7115-10A-01D-2114-08 g.chr8:11421593_11421607delGCGGCAGTACGAGCT c.1494_1508delGCGGCAGTACGAGCT c.(1492-1509)gagcggcagtacgagctg>gag p.RQYEL499del READ 8 11420487 11420487 + Splice_Site SNP G G A TCGA-CL-5918-01A-11D-1657-10 TCGA-CL-5918-10A-01D-1657-10 g.chr8:11420487G>A c.e12-1 SARC 8 11403586 11403586 + Missense_Mutation SNP C C T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 g.chr8:11403586C>T c.149C>T c.(148-150)cCa>cTa p.P50L SKCM 8 11400787 11400787 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:11400787G>A c.54G>A c.(52-54)aaG>aaA p.K18K SKCM 8 11400814 11400814 + Silent SNP G G A TCGA-EE-A185-06A-11D-A196-08 TCGA-EE-A185-10A-01D-A198-08 g.chr8:11400814G>A c.81G>A c.(79-81)aaG>aaA p.K27K SKCM 8 11400850 11400850 + Silent SNP G G C TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr8:11400850G>C c.117G>C c.(115-117)ccG>ccC p.P39P SKCM 8 11406605 11406605 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr8:11406605C>T c.342C>T c.(340-342)gcC>gcT p.A114A SKCM 8 11406606 11406606 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr8:11406606C>T c.343C>T c.(343-345)Cga>Tga p.R115* SKCM 8 11407687 11407687 + Missense_Mutation SNP G G A TCGA-EE-A2GH-06A-11D-A196-08 TCGA-EE-A2GH-10A-01D-A198-08 g.chr8:11407687G>A c.388G>A c.(388-390)Ggt>Agt p.G130S SKCM 8 11407688 11407688 + Missense_Mutation SNP G G A TCGA-EE-A2GH-06A-11D-A196-08 TCGA-EE-A2GH-10A-01D-A198-08 g.chr8:11407688G>A c.389G>A c.(388-390)gGt>gAt p.G130D SKCM 8 11407733 11407733 + Missense_Mutation SNP C C T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 g.chr8:11407733C>T c.434C>T c.(433-435)gCc>gTc p.A145V SKCM 8 11407735 11407735 + Missense_Mutation SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr8:11407735G>A c.436G>A c.(436-438)Ggc>Agc p.G146S SKCM 8 11407739 11407739 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr8:11407739C>T c.440C>T c.(439-441)tCc>tTc p.S147F SKCM 8 11412309 11412309 + Missense_Mutation SNP A A G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr8:11412309A>G c.530A>G c.(529-531)tAt>tGt p.Y177C SKCM 8 11412914 11412914 + Silent SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr8:11412914G>A c.693G>A c.(691-693)caG>caA p.Q231Q SKCM 8 11412923 11412923 + Nonsense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr8:11412923G>A c.702G>A c.(700-702)tgG>tgA p.W234* SKCM 8 11414214 11414214 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr8:11414214G>A c.820G>A c.(820-822)Gga>Aga p.G274R SKCM 8 11414274 11414274 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:11414274G>A c.880G>A c.(880-882)Gag>Aag p.E294K SKCM 8 11415549 11415549 + Splice_Site SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr8:11415549T>C c.e10+2 SKCM 8 11418822 11418822 + Silent SNP G G A TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr8:11418822G>A c.1041G>A c.(1039-1041)ggG>ggA p.G347G SKCM 8 11418875 11418875 + Missense_Mutation SNP A A G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr8:11418875A>G c.1094A>G c.(1093-1095)aAc>aGc p.N365S SKCM 8 11420487 11420487 + Splice_Site SNP G G A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 g.chr8:11420487G>A c.e12-1 SKCM 8 11420488 11420488 + Splice_Site SNP G G A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 g.chr8:11420488G>A c.1181G>A c.(1180-1182)gGg>gAg p.G394E

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 8 11415537 11415537 single base substitution T C downstream_gene_variant BLCA-CN 8 11415537 11415537 single base substitution T C missense_variant M269T 806T>C BLCA-CN 8 11415537 11415537 single base substitution T C missense_variant M340T 1019T>C BLCA-CN 8 11415537 11415537 single base substitution T C upstream_gene_variant BLCA-US 8 11405588 11405588 single base substitution C A exon_variant BLCA-US 8 11405588 11405588 single base substitution C A synonymous_variant R4R 10C>A BLCA-US 8 11405588 11405588 single base substitution C A synonymous_variant R75R 223C>A BLCA-US 8 11405588 11405588 single base substitution C A upstream_gene_variant BOCA-FR 8 11375085 11375085 single base substitution G A intron_variant BOCA-FR 8 11413525 11413525 single base substitution G A intron_variant BOCA-FR 8 11413525 11413525 single base substitution G A upstream_gene_variant BRCA-EU 8 11347065 11347065 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 11349230 11349230 single base substitution G A upstream_gene_variant BRCA-EU 8 11349452 11349452 single base substitution A G upstream_gene_variant BRCA-EU 8 11351870 11351870 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 8 11351870 11351870 single base substitution C T exon_variant BRCA-EU 8 11351870 11351870 single base substitution C T upstream_gene_variant BRCA-EU 8 11353229 11353229 single base substitution C G intron_variant BRCA-EU 8 11353367 11353367 single base substitution A G intron_variant BRCA-EU 8 11353382 11353382 single base substitution G C intron_variant BRCA-EU 8 11353608 11353608 single base substitution G C intron_variant BRCA-EU 8 11353638 11353638 single base substitution A T intron_variant BRCA-EU 8 11354882 11354882 single base substitution C G intron_variant BRCA-EU 8 11355339 11355339 single base substitution T C intron_variant BRCA-EU 8 11355770 11355770 single base substitution C T intron_variant BRCA-EU 8 11356348 11356348 single base substitution G T intron_variant BRCA-EU 8 11356466 11356466 single base substitution G C intron_variant BRCA-EU 8 11357138 11357138 single base substitution G A intron_variant BRCA-EU 8 11357367 11357367 deletion of <=200bp T - intron_variant BRCA-EU 8 11357674 11357674 single base substitution C T intron_variant BRCA-EU 8 11358181 11358181 single base substitution C T intron_variant BRCA-EU 8 11358270 11358270 single base substitution C A intron_variant BRCA-EU 8 11358798 11358798 single base substitution G A intron_variant BRCA-EU 8 11358980 11358980 single base substitution G T intron_variant BRCA-EU 8 11359920 11359920 single base substitution C G intron_variant BRCA-EU 8 11361078 11361078 single base substitution T C intron_variant BRCA-EU 8 11361539 11361539 single base substitution G T intron_variant BRCA-EU 8 11362132 11362132 single base substitution C T intron_variant BRCA-EU 8 11362392 11362392 single base substitution C G intron_variant BRCA-EU 8 11363939 11363939 single base substitution G T intron_variant BRCA-EU 8 11365991 11365991 single base substitution G C intron_variant BRCA-EU 8 11366666 11366666 single base substitution C T exon_variant BRCA-EU 8 11366666 11366666 single base substitution C T intron_variant BRCA-EU 8 11367107 11367107 single base substitution G A exon_variant BRCA-EU 8 11367107 11367107 single base substitution G A intron_variant BRCA-EU 8 11367253 11367253 single base substitution A C exon_variant BRCA-EU 8 11367253 11367253 single base substitution A C intron_variant BRCA-EU 8 11367752 11367752 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 11367752 11367752 deletion of <=200bp T - intron_variant BRCA-EU 8 11367880 11367880 single base substitution G C downstream_gene_variant BRCA-EU 8 11367880 11367880 single base substitution G C intron_variant BRCA-EU 8 11368526 11368526 single base substitution G A downstream_gene_variant BRCA-EU 8 11368526 11368526 single base substitution G A intron_variant BRCA-EU 8 11369629 11369629 single base substitution G A downstream_gene_variant BRCA-EU 8 11369629 11369629 single base substitution G A intron_variant BRCA-EU 8 11369683 11369683 single base substitution C T downstream_gene_variant BRCA-EU 8 11369683 11369683 single base substitution C T intron_variant BRCA-EU 8 11369940 11369940 single base substitution G C downstream_gene_variant BRCA-EU 8 11369940 11369940 single base substitution G C intron_variant BRCA-EU 8 11371915 11371915 single base substitution G A downstream_gene_variant BRCA-EU 8 11371915 11371915 single base substitution G A intron_variant BRCA-EU 8 11374108 11374108 single base substitution C A intron_variant BRCA-EU 8 11375088 11375088 single base substitution C T intron_variant BRCA-EU 8 11375652 11375652 single base substitution G A intron_variant BRCA-EU 8 11375706 11375706 single base substitution C T intron_variant BRCA-EU 8 11376632 11376632 single base substitution C T intron_variant BRCA-EU 8 11376851 11376851 single base substitution G A intron_variant BRCA-EU 8 11377442 11377442 single base substitution A G intron_variant BRCA-EU 8 11377972 11377972 single base substitution C T intron_variant BRCA-EU 8 11379699 11379699 deletion of <=200bp A - intron_variant BRCA-EU 8 11381415 11381415 single base substitution G A intron_variant BRCA-EU 8 11381954 11381954 single base substitution T A intron_variant BRCA-EU 8 11382100 11382100 single base substitution A G intron_variant BRCA-EU 8 11384369 11384369 single base substitution A T intron_variant BRCA-EU 8 11385190 11385190 single base substitution A G intron_variant BRCA-EU 8 11386353 11386353 single base substitution G A intron_variant BRCA-EU 8 11390501 11390501 single base substitution T A intron_variant BRCA-EU 8 11391682 11391682 single base substitution G A intron_variant BRCA-EU 8 11391917 11391917 single base substitution C A intron_variant BRCA-EU 8 11392953 11392953 single base substitution G C intron_variant BRCA-EU 8 11393576 11393576 single base substitution T A intron_variant BRCA-EU 8 11394859 11394859 single base substitution A G intron_variant BRCA-EU 8 11396857 11396857 single base substitution T C intron_variant BRCA-EU 8 11396943 11396943 single base substitution C A intron_variant BRCA-EU 8 11398277 11398277 single base substitution G T intron_variant BRCA-EU 8 11398277 11398277 single base substitution G T upstream_gene_variant BRCA-EU 8 11398391 11398391 single base substitution C G intron_variant BRCA-EU 8 11398391 11398391 single base substitution C G upstream_gene_variant BRCA-EU 8 11399012 11399012 single base substitution T C intron_variant BRCA-EU 8 11399012 11399012 single base substitution T C upstream_gene_variant BRCA-EU 8 11399889 11399889 single base substitution C A intron_variant BRCA-EU 8 11399889 11399889 single base substitution C A upstream_gene_variant BRCA-EU 8 11400383 11400383 single base substitution C G intron_variant BRCA-EU 8 11400383 11400383 single base substitution C G upstream_gene_variant BRCA-EU 8 11401884 11401884 single base substitution T C intron_variant BRCA-EU 8 11401884 11401884 single base substitution T C upstream_gene_variant BRCA-EU 8 11403080 11403080 single base substitution A G intron_variant BRCA-EU 8 11403080 11403080 single base substitution A G upstream_gene_variant BRCA-EU 8 11403898 11403898 single base substitution C T intron_variant BRCA-EU 8 11403898 11403898 single base substitution C T upstream_gene_variant BRCA-EU 8 11403936 11403936 single base substitution G A intron_variant BRCA-EU 8 11403936 11403936 single base substitution G A upstream_gene_variant BRCA-EU 8 11404078 11404078 single base substitution C T intron_variant BRCA-EU 8 11404078 11404078 single base substitution C T upstream_gene_variant BRCA-EU 8 11404094 11404094 insertion of <=200bp - T intron_variant BRCA-EU 8 11404094 11404094 insertion of <=200bp - T upstream_gene_variant BRCA-EU 8 11405367 11405367 single base substitution C A intron_variant BRCA-EU 8 11405367 11405367 single base substitution C A upstream_gene_variant BRCA-EU 8 11406065 11406065 single base substitution C T intron_variant BRCA-EU 8 11406065 11406065 single base substitution C T upstream_gene_variant BRCA-EU 8 11406702 11406702 single base substitution G A downstream_gene_variant BRCA-EU 8 11406702 11406702 single base substitution G A intron_variant BRCA-EU 8 11406702 11406702 single base substitution G A upstream_gene_variant BRCA-EU 8 11406905 11406905 single base substitution G C downstream_gene_variant BRCA-EU 8 11406905 11406905 single base substitution G C intron_variant BRCA-EU 8 11406905 11406905 single base substitution G C upstream_gene_variant BRCA-EU 8 11407060 11407060 single base substitution C T downstream_gene_variant BRCA-EU 8 11407060 11407060 single base substitution C T intron_variant BRCA-EU 8 11407060 11407060 single base substitution C T upstream_gene_variant BRCA-EU 8 11407753 11407753 single base substitution G C downstream_gene_variant BRCA-EU 8 11407753 11407753 single base substitution G C exon_variant BRCA-EU 8 11407753 11407753 single base substitution G C missense_variant E152Q 454G>C BRCA-EU 8 11407753 11407753 single base substitution G C missense_variant E81Q 241G>C BRCA-EU 8 11408233 11408233 single base substitution G T downstream_gene_variant BRCA-EU 8 11408233 11408233 single base substitution G T intron_variant BRCA-EU 8 11411450 11411450 single base substitution C T downstream_gene_variant BRCA-EU 8 11411450 11411450 single base substitution C T intron_variant BRCA-EU 8 11411653 11411653 single base substitution C T intron_variant BRCA-EU 8 11414576 11414576 single base substitution G T downstream_gene_variant BRCA-EU 8 11414576 11414576 single base substitution G T intron_variant BRCA-EU 8 11414576 11414576 single base substitution G T upstream_gene_variant BRCA-EU 8 11415244 11415244 single base substitution G A downstream_gene_variant BRCA-EU 8 11415244 11415244 single base substitution G A intron_variant BRCA-EU 8 11415244 11415244 single base substitution G A upstream_gene_variant BRCA-EU 8 11415401 11415438 deletion of <=200bp CAGAGAGAGGCTGGCACCACCAGGGGCGGGTCACTTTG - downstream_gene_variant BRCA-EU 8 11415401 11415438 deletion of <=200bp CAGAGAGAGGCTGGCACCACCAGGGGCGGGTCACTTTG - intron_variant BRCA-EU 8 11415401 11415438 deletion of <=200bp CAGAGAGAGGCTGGCACCACCAGGGGCGGGTCACTTTG - upstream_gene_variant BRCA-EU 8 11416546 11416546 single base substitution G A downstream_gene_variant BRCA-EU 8 11416546 11416546 single base substitution G A intron_variant BRCA-EU 8 11416546 11416546 single base substitution G A upstream_gene_variant BRCA-EU 8 11419304 11419304 single base substitution G A intron_variant BRCA-EU 8 11420128 11420128 single base substitution G C intron_variant BRCA-EU 8 11420838 11420838 single base substitution A C intron_variant BRCA-EU 8 11421058 11421058 single base substitution G A intron_variant BRCA-EU 8 11422178 11422178 single base substitution C T downstream_gene_variant BRCA-EU 8 11422259 11422259 single base substitution T A downstream_gene_variant BRCA-EU 8 11422812 11422812 single base substitution G C downstream_gene_variant BRCA-EU 8 11423521 11423521 single base substitution A T downstream_gene_variant BRCA-EU 8 11424917 11424917 deletion of <=200bp G - downstream_gene_variant BRCA-EU 8 11425132 11425132 single base substitution A G downstream_gene_variant BRCA-EU 8 11426270 11426270 single base substitution G A downstream_gene_variant BRCA-FR 8 11361402 11361402 single base substitution G A intron_variant BRCA-FR 8 11406065 11406065 single base substitution C T intron_variant BRCA-FR 8 11406065 11406065 single base substitution C T upstream_gene_variant BRCA-FR 8 11406905 11406905 single base substitution G C downstream_gene_variant BRCA-FR 8 11406905 11406905 single base substitution G C intron_variant BRCA-FR 8 11406905 11406905 single base substitution G C upstream_gene_variant BRCA-FR 8 11407753 11407753 single base substitution G C downstream_gene_variant BRCA-FR 8 11407753 11407753 single base substitution G C exon_variant BRCA-FR 8 11407753 11407753 single base substitution G C missense_variant E152Q 454G>C BRCA-FR 8 11407753 11407753 single base substitution G C missense_variant E81Q 241G>C BRCA-UK 8 11361078 11361078 single base substitution T C intron_variant BRCA-UK 8 11377164 11377164 single base substitution C G intron_variant BRCA-UK 8 11409847 11409847 single base substitution G C downstream_gene_variant BRCA-UK 8 11409847 11409847 single base substitution G C intron_variant BRCA-US 8 11400751 11400751 insertion of <=200bp - A frameshift_variant S6R? BRCA-US 8 11400751 11400751 insertion of <=200bp - A intron_variant BRCA-US 8 11400751 11400751 insertion of <=200bp - A upstream_gene_variant BRCA-US 8 11405607 11405607 insertion of <=200bp - G exon_variant BRCA-US 8 11405607 11405607 insertion of <=200bp - G frameshift_variant K10R? BRCA-US 8 11405607 11405607 insertion of <=200bp - G frameshift_variant K81R? BRCA-US 8 11405607 11405607 insertion of <=200bp - G upstream_gene_variant BRCA-US 8 11412257 11412257 deletion of <=200bp T - exon_variant BRCA-US 8 11412257 11412257 deletion of <=200bp T - frameshift_variant F160 BRCA-US 8 11412257 11412257 deletion of <=200bp T - frameshift_variant F89 BRCA-US 8 11412359 11412359 single base substitution A C exon_variant BRCA-US 8 11412359 11412359 single base substitution A C missense_variant T123P 367A>C BRCA-US 8 11412359 11412359 single base substitution A C missense_variant T194P 580A>C BRCA-US 8 11412989 11412989 single base substitution G T exon_variant BRCA-US 8 11412989 11412989 single base substitution G T missense_variant W185C 555G>T BRCA-US 8 11412989 11412989 single base substitution G T missense_variant W256C 768G>T BRCA-US 8 11412989 11412989 single base substitution G T upstream_gene_variant BRCA-US 8 11418950 11418950 single base substitution C T downstream_gene_variant BRCA-US 8 11418950 11418950 single base substitution C T exon_variant BRCA-US 8 11418950 11418950 single base substitution C T missense_variant T319M 956C>T BRCA-US 8 11418950 11418950 single base substitution C T missense_variant T390M 1169C>T BTCA-JP 8 11400736 11400736 single base substitution G A intron_variant BTCA-JP 8 11400736 11400736 single base substitution G A start_lost M1I 3G>A BTCA-JP 8 11400736 11400736 single base substitution G A upstream_gene_variant BTCA-JP 8 11406649 11406649 deletion of <=200bp C - downstream_gene_variant BTCA-JP 8 11406649 11406649 deletion of <=200bp C - intron_variant BTCA-JP 8 11406649 11406649 deletion of <=200bp C - upstream_gene_variant CESC-US 8 11415441 11415441 single base substitution G A downstream_gene_variant CESC-US 8 11415441 11415441 single base substitution G A intron_variant CESC-US 8 11415441 11415441 single base substitution G A upstream_gene_variant CLLE-ES 8 11353872 11353872 single base substitution C T intron_variant CLLE-ES 8 11355205 11355205 single base substitution G C intron_variant CLLE-ES 8 11378954 11378954 single base substitution C A intron_variant CLLE-ES 8 11380379 11380379 single base substitution A G intron_variant CLLE-ES 8 11382200 11382200 single base substitution T G intron_variant CLLE-ES 8 11388523 11388523 single base substitution T C intron_variant CLLE-ES 8 11388597 11388597 single base substitution T C intron_variant CLLE-ES 8 11392735 11392735 insertion of <=200bp - AA intron_variant CLLE-ES 8 11397131 11397131 single base substitution G T intron_variant CLLE-ES 8 11398998 11398998 single base substitution C T intron_variant CLLE-ES 8 11398998 11398998 single base substitution C T upstream_gene_variant CLLE-ES 8 11399764 11399764 single base substitution T C intron_variant CLLE-ES 8 11399764 11399764 single base substitution T C upstream_gene_variant CLLE-ES 8 11422219 11422219 single base substitution G C downstream_gene_variant COAD-US 8 11403603 11403603 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 8 11403603 11403603 single base substitution C A exon_variant COAD-US 8 11403603 11403603 single base substitution C A missense_variant L56M 166C>A COAD-US 8 11403603 11403603 single base substitution C A upstream_gene_variant COAD-US 8 11406593 11406593 single base substitution T C exon_variant COAD-US 8 11406593 11406593 single base substitution T C synonymous_variant S110S 330T>C COAD-US 8 11406593 11406593 single base substitution T C synonymous_variant S39S 117T>C COAD-US 8 11406593 11406593 single base substitution T C upstream_gene_variant COAD-US 8 11407734 11407734 single base substitution C T downstream_gene_variant COAD-US 8 11407734 11407734 single base substitution C T exon_variant COAD-US 8 11407734 11407734 single base substitution C T synonymous_variant A145A 435C>T COAD-US 8 11407734 11407734 single base substitution C T synonymous_variant A74A 222C>T COAD-US 8 11420604 11420604 single base substitution C T exon_variant COAD-US 8 11420604 11420604 single base substitution C T missense_variant R362W 1084C>T COAD-US 8 11420604 11420604 single base substitution C T missense_variant R433W 1297C>T COCA-CN 8 11361894 11361894 single base substitution A G intron_variant COCA-CN 8 11361899 11361899 single base substitution A G intron_variant COCA-CN 8 11368313 11368313 single base substitution A C downstream_gene_variant COCA-CN 8 11368313 11368313 single base substitution A C intron_variant COCA-CN 8 11377663 11377663 single base substitution C T intron_variant COCA-CN 8 11387612 11387612 single base substitution A G intron_variant COCA-CN 8 11389931 11389931 single base substitution G A intron_variant COCA-CN 8 11396016 11396016 single base substitution G A intron_variant COCA-CN 8 11400197 11400197 single base substitution C T intron_variant COCA-CN 8 11400197 11400197 single base substitution C T upstream_gene_variant COCA-CN 8 11400694 11400694 single base substitution G A intron_variant COCA-CN 8 11400694 11400694 single base substitution G A upstream_gene_variant COCA-CN 8 11400915 11400915 single base substitution T C intron_variant COCA-CN 8 11400915 11400915 single base substitution T C upstream_gene_variant COCA-CN 8 11400916 11400916 single base substitution C A intron_variant COCA-CN 8 11400916 11400916 single base substitution C A upstream_gene_variant COCA-CN 8 11403935 11403935 single base substitution C T intron_variant COCA-CN 8 11403935 11403935 single base substitution C T upstream_gene_variant COCA-CN 8 11406501 11406501 single base substitution G T intron_variant COCA-CN 8 11406501 11406501 single base substitution G T upstream_gene_variant COCA-CN 8 11406649 11406649 single base substitution C A downstream_gene_variant COCA-CN 8 11406649 11406649 single base substitution C A intron_variant COCA-CN 8 11406649 11406649 single base substitution C A upstream_gene_variant COCA-CN 8 11406738 11406738 single base substitution A G downstream_gene_variant COCA-CN 8 11406738 11406738 single base substitution A G intron_variant COCA-CN 8 11406738 11406738 single base substitution A G upstream_gene_variant COCA-CN 8 11407723 11407723 single base substitution A G downstream_gene_variant COCA-CN 8 11407723 11407723 single base substitution A G exon_variant COCA-CN 8 11407723 11407723 single base substitution A G missense_variant I142V 424A>G COCA-CN 8 11407723 11407723 single base substitution A G missense_variant I71V 211A>G COCA-CN 8 11410849 11410849 single base substitution C A downstream_gene_variant COCA-CN 8 11410849 11410849 single base substitution C A intron_variant COCA-CN 8 11415381 11415381 single base substitution C A downstream_gene_variant COCA-CN 8 11415381 11415381 single base substitution C A intron_variant COCA-CN 8 11415381 11415381 single base substitution C A upstream_gene_variant COCA-CN 8 11416356 11416356 single base substitution G A downstream_gene_variant COCA-CN 8 11416356 11416356 single base substitution G A intron_variant COCA-CN 8 11416356 11416356 single base substitution G A upstream_gene_variant COCA-CN 8 11416365 11416365 single base substitution C T downstream_gene_variant COCA-CN 8 11416365 11416365 single base substitution C T intron_variant COCA-CN 8 11416365 11416365 single base substitution C T upstream_gene_variant COCA-CN 8 11417727 11417727 single base substitution C G downstream_gene_variant COCA-CN 8 11417727 11417727 single base substitution C G intron_variant COCA-CN 8 11417727 11417727 single base substitution C G upstream_gene_variant COCA-CN 8 11418776 11418776 single base substitution C A downstream_gene_variant COCA-CN 8 11418776 11418776 single base substitution C A exon_variant COCA-CN 8 11418776 11418776 single base substitution C A intron_variant COCA-CN 8 11418917 11418917 single base substitution T C downstream_gene_variant COCA-CN 8 11418917 11418917 single base substitution T C exon_variant COCA-CN 8 11418917 11418917 single base substitution T C missense_variant F308S 923T>C COCA-CN 8 11418917 11418917 single base substitution T C missense_variant F379S 1136T>C COCA-CN 8 11421524 11421524 single base substitution C A exon_variant COCA-CN 8 11421524 11421524 single base substitution C A missense_variant S404R 1212C>A COCA-CN 8 11421524 11421524 single base substitution C A missense_variant S475R 1425C>A EOPC-DE 8 11350899 11350899 single base substitution T C upstream_gene_variant ESAD-UK 8 11349472 11349472 single base substitution A T upstream_gene_variant ESAD-UK 8 11352284 11352284 single base substitution G A intron_variant ESAD-UK 8 11355335 11355335 single base substitution T G intron_variant ESAD-UK 8 11356025 11356025 single base substitution G A intron_variant ESAD-UK 8 11356230 11356230 single base substitution G A intron_variant ESAD-UK 8 11358211 11358211 single base substitution G A intron_variant ESAD-UK 8 11358867 11358867 single base substitution T C intron_variant ESAD-UK 8 11359227 11359227 single base substitution C G intron_variant ESAD-UK 8 11359255 11359255 single base substitution G C intron_variant ESAD-UK 8 11359351 11359351 single base substitution C T intron_variant ESAD-UK 8 11359875 11359875 single base substitution C T intron_variant ESAD-UK 8 11360468 11360468 single base substitution C T intron_variant ESAD-UK 8 11360600 11360600 single base substitution G A intron_variant ESAD-UK 8 11362132 11362132 single base substitution C T intron_variant ESAD-UK 8 11364161 11364161 single base substitution A C intron_variant ESAD-UK 8 11365825 11365825 single base substitution A G intron_variant ESAD-UK 8 11366694 11366694 single base substitution C T exon_variant ESAD-UK 8 11366694 11366694 single base substitution C T intron_variant ESAD-UK 8 11368932 11368932 single base substitution C T downstream_gene_variant ESAD-UK 8 11368932 11368932 single base substitution C T intron_variant ESAD-UK 8 11369344 11369344 single base substitution A G downstream_gene_variant ESAD-UK 8 11369344 11369344 single base substitution A G intron_variant ESAD-UK 8 11369512 11369512 single base substitution A C downstream_gene_variant ESAD-UK 8 11369512 11369512 single base substitution A C intron_variant ESAD-UK 8 11370628 11370628 single base substitution A G downstream_gene_variant ESAD-UK 8 11370628 11370628 single base substitution A G intron_variant ESAD-UK 8 11372053 11372053 single base substitution G A downstream_gene_variant ESAD-UK 8 11372053 11372053 single base substitution G A intron_variant ESAD-UK 8 11372575 11372575 single base substitution C G intron_variant ESAD-UK 8 11373778 11373778 single base substitution A G intron_variant ESAD-UK 8 11373918 11373918 single base substitution C G intron_variant ESAD-UK 8 11375196 11375196 single base substitution G A intron_variant ESAD-UK 8 11377132 11377132 single base substitution C T intron_variant ESAD-UK 8 11378595 11378595 single base substitution G C intron_variant ESAD-UK 8 11378645 11378645 single base substitution A C intron_variant ESAD-UK 8 11378791 11378791 single base substitution G T intron_variant ESAD-UK 8 11378851 11378851 single base substitution G A intron_variant ESAD-UK 8 11379227 11379227 single base substitution C T intron_variant ESAD-UK 8 11379873 11379873 single base substitution T G intron_variant ESAD-UK 8 11381136 11381136 single base substitution A T intron_variant ESAD-UK 8 11381592 11381592 single base substitution C T intron_variant ESAD-UK 8 11381697 11381697 single base substitution A C intron_variant ESAD-UK 8 11382366 11382366 single base substitution C T intron_variant ESAD-UK 8 11384595 11384595 single base substitution C T intron_variant ESAD-UK 8 11387379 11387379 single base substitution A G intron_variant ESAD-UK 8 11388604 11388604 single base substitution C T intron_variant ESAD-UK 8 11389314 11389314 single base substitution G T intron_variant ESAD-UK 8 11390056 11390056 single base substitution T A intron_variant ESAD-UK 8 11390163 11390163 single base substitution C T intron_variant ESAD-UK 8 11391092 11391092 insertion of <=200bp - GGAGGAGGA intron_variant ESAD-UK 8 11391356 11391356 single base substitution G T intron_variant ESAD-UK 8 11391917 11391917 single base substitution C A intron_variant ESAD-UK 8 11391918 11391918 single base substitution A C intron_variant ESAD-UK 8 11391925 11391925 single base substitution T A intron_variant ESAD-UK 8 11392504 11392504 single base substitution G T intron_variant ESAD-UK 8 11393121 11393121 single base substitution G A intron_variant ESAD-UK 8 11394174 11394174 single base substitution G A intron_variant ESAD-UK 8 11394213 11394213 single base substitution C A intron_variant ESAD-UK 8 11396413 11396413 single base substitution T G intron_variant ESAD-UK 8 11398230 11398230 single base substitution C A intron_variant ESAD-UK 8 11398894 11398894 single base substitution C T intron_variant ESAD-UK 8 11398894 11398894 single base substitution C T upstream_gene_variant ESAD-UK 8 11399012 11399012 single base substitution T C intron_variant ESAD-UK 8 11399012 11399012 single base substitution T C upstream_gene_variant ESAD-UK 8 11399302 11399302 single base substitution C T intron_variant ESAD-UK 8 11399302 11399302 single base substitution C T upstream_gene_variant ESAD-UK 8 11400836 11400836 single base substitution G A intron_variant ESAD-UK 8 11400836 11400836 single base substitution G A missense_variant A35T 103G>A ESAD-UK 8 11400836 11400836 single base substitution G A upstream_gene_variant ESAD-UK 8 11402927 11402927 single base substitution G A intron_variant ESAD-UK 8 11402927 11402927 single base substitution G A upstream_gene_variant ESAD-UK 8 11403291 11403291 single base substitution T G exon_variant ESAD-UK 8 11403291 11403291 single base substitution T G intron_variant ESAD-UK 8 11403291 11403291 single base substitution T G upstream_gene_variant ESAD-UK 8 11404921 11404921 single base substitution G A intron_variant ESAD-UK 8 11404921 11404921 single base substitution G A upstream_gene_variant ESAD-UK 8 11405783 11405783 single base substitution T G intron_variant ESAD-UK 8 11405783 11405783 single base substitution T G upstream_gene_variant ESAD-UK 8 11407013 11407013 single base substitution G A downstream_gene_variant ESAD-UK 8 11407013 11407013 single base substitution G A intron_variant ESAD-UK 8 11407013 11407013 single base substitution G A upstream_gene_variant ESAD-UK 8 11407236 11407236 single base substitution G A downstream_gene_variant ESAD-UK 8 11407236 11407236 single base substitution G A intron_variant ESAD-UK 8 11407236 11407236 single base substitution G A upstream_gene_variant ESAD-UK 8 11407861 11407861 single base substitution G T downstream_gene_variant ESAD-UK 8 11407861 11407861 single base substitution G T intron_variant ESAD-UK 8 11409488 11409488 single base substitution G A downstream_gene_variant ESAD-UK 8 11409488 11409488 single base substitution G A intron_variant ESAD-UK 8 11411320 11411320 single base substitution T C downstream_gene_variant ESAD-UK 8 11411320 11411320 single base substitution T C intron_variant ESAD-UK 8 11411811 11411811 single base substitution A G intron_variant ESAD-UK 8 11412650 11412650 single base substitution G C intron_variant ESAD-UK 8 11412886 11412886 single base substitution G A exon_variant ESAD-UK 8 11412886 11412886 single base substitution G A missense_variant R151H 452G>A ESAD-UK 8 11412886 11412886 single base substitution G A missense_variant R222H 665G>A ESAD-UK 8 11412886 11412886 single base substitution G A upstream_gene_variant ESAD-UK 8 11413110 11413110 single base substitution G T intron_variant ESAD-UK 8 11413110 11413110 single base substitution G T upstream_gene_variant ESAD-UK 8 11413538 11413538 single base substitution T A intron_variant ESAD-UK 8 11413538 11413538 single base substitution T A upstream_gene_variant ESAD-UK 8 11413562 11413562 single base substitution A G intron_variant ESAD-UK 8 11413562 11413562 single base substitution A G upstream_gene_variant ESAD-UK 8 11413603 11413603 single base substitution C A intron_variant ESAD-UK 8 11413603 11413603 single base substitution C A upstream_gene_variant ESAD-UK 8 11414424 11414424 single base substitution G A downstream_gene_variant ESAD-UK 8 11414424 11414424 single base substitution G A intron_variant ESAD-UK 8 11414424 11414424 single base substitution G A upstream_gene_variant ESAD-UK 8 11415413 11415413 single base substitution G A downstream_gene_variant ESAD-UK 8 11415413 11415413 single base substitution G A intron_variant ESAD-UK 8 11415413 11415413 single base substitution G A upstream_gene_variant ESAD-UK 8 11418269 11418269 single base substitution G A downstream_gene_variant ESAD-UK 8 11418269 11418269 single base substitution G A exon_variant ESAD-UK 8 11418269 11418269 single base substitution G A intron_variant ESAD-UK 8 11418352 11418352 single base substitution A C downstream_gene_variant ESAD-UK 8 11418352 11418352 single base substitution A C exon_variant ESAD-UK 8 11418352 11418352 single base substitution A C intron_variant ESAD-UK 8 11421759 11421759 single base substitution C A 3_prime_UTR_variant ESAD-UK 8 11421759 11421759 single base substitution C A exon_variant ESAD-UK 8 11423212 11423212 single base substitution C T downstream_gene_variant ESAD-UK 8 11426546 11426546 single base substitution T G downstream_gene_variant ESAD-UK 8 11426782 11426782 single base substitution G A downstream_gene_variant GBM-US 8 11400849 11400849 single base substitution C T intron_variant GBM-US 8 11400849 11400849 single base substitution C T missense_variant P39L 116C>T GBM-US 8 11400849 11400849 single base substitution C T upstream_gene_variant GBM-US 8 11406564 11406564 single base substitution G A exon_variant GBM-US 8 11406564 11406564 single base substitution G A missense_variant V101I 301G>A GBM-US 8 11406564 11406564 single base substitution G A missense_variant V30I 88G>A GBM-US 8 11406564 11406564 single base substitution G A upstream_gene_variant KIRC-US 8 11412944 11412944 single base substitution C G exon_variant KIRC-US 8 11412944 11412944 single base substitution C G synonymous_variant L170L 510C>G KIRC-US 8 11412944 11412944 single base substitution C G synonymous_variant L241L 723C>G KIRC-US 8 11412944 11412944 single base substitution C G upstream_gene_variant KIRC-US 8 11415475 11415475 single base substitution C T downstream_gene_variant KIRC-US 8 11415475 11415475 single base substitution C T synonymous_variant C248C 744C>T KIRC-US 8 11415475 11415475 single base substitution C T synonymous_variant C319C 957C>T KIRC-US 8 11415475 11415475 single base substitution C T upstream_gene_variant LAML-KR 8 11361894 11361894 single base substitution A G intron_variant LAML-KR 8 11414073 11414073 single base substitution T G intron_variant LAML-KR 8 11414073 11414073 single base substitution T G upstream_gene_variant LAML-KR 8 11417707 11417707 single base substitution G C downstream_gene_variant LAML-KR 8 11417707 11417707 single base substitution G C intron_variant LAML-KR 8 11417707 11417707 single base substitution G C upstream_gene_variant LGG-US 8 11400849 11400849 single base substitution C T intron_variant LGG-US 8 11400849 11400849 single base substitution C T missense_variant P39L 116C>T LGG-US 8 11400849 11400849 single base substitution C T upstream_gene_variant LGG-US 8 11414294 11414294 single base substitution C T exon_variant LGG-US 8 11414294 11414294 single base substitution C T synonymous_variant Y229Y 687C>T LGG-US 8 11414294 11414294 single base substitution C T synonymous_variant Y300Y 900C>T LGG-US 8 11414294 11414294 single base substitution C T upstream_gene_variant LICA-CN 8 11400831 11400831 single base substitution A G intron_variant LICA-CN 8 11400831 11400831 single base substitution A G missense_variant K33R 98A>G LICA-CN 8 11400831 11400831 single base substitution A G upstream_gene_variant LICA-CN 8 11406552 11406552 single base substitution G T exon_variant LICA-CN 8 11406552 11406552 single base substitution G T missense_variant A26S 76G>T LICA-CN 8 11406552 11406552 single base substitution G T missense_variant A97S 289G>T LICA-CN 8 11406552 11406552 single base substitution G T upstream_gene_variant LICA-FR 8 11359728 11359728 single base substitution A G intron_variant LICA-FR 8 11361768 11361768 single base substitution G T intron_variant LICA-FR 8 11392703 11392703 single base substitution A G intron_variant LICA-FR 8 11412111 11412111 single base substitution A G intron_variant LICA-FR 8 11419041 11419041 single base substitution A G downstream_gene_variant LICA-FR 8 11419041 11419041 single base substitution A G intron_variant LIHC-US 8 11420535 11420535 single base substitution G A exon_variant LIHC-US 8 11420535 11420535 single base substitution G A missense_variant G339R 1015G>A LIHC-US 8 11420535 11420535 single base substitution G A missense_variant G410R 1228G>A LINC-JP 8 11349741 11349741 single base substitution A T upstream_gene_variant LINC-JP 8 11359545 11359545 single base substitution A T intron_variant LINC-JP 8 11361289 11361289 single base substitution C T intron_variant LINC-JP 8 11380574 11380574 single base substitution A T intron_variant LINC-JP 8 11382421 11382421 single base substitution T A intron_variant LINC-JP 8 11393186 11393186 single base substitution G A intron_variant LINC-JP 8 11412588 11412588 single base substitution C T intron_variant LINC-JP 8 11416151 11416151 single base substitution C T downstream_gene_variant LINC-JP 8 11416151 11416151 single base substitution C T intron_variant LINC-JP 8 11416151 11416151 single base substitution C T upstream_gene_variant LINC-JP 8 11417245 11417245 single base substitution C A downstream_gene_variant LINC-JP 8 11417245 11417245 single base substitution C A intron_variant LINC-JP 8 11417245 11417245 single base substitution C A upstream_gene_variant LIRI-JP 8 11346631 11346631 single base substitution T C upstream_gene_variant LIRI-JP 8 11347375 11347375 single base substitution G A upstream_gene_variant LIRI-JP 8 11353064 11353064 single base substitution C T intron_variant LIRI-JP 8 11355288 11355288 single base substitution C A intron_variant LIRI-JP 8 11355792 11355792 single base substitution A G intron_variant LIRI-JP 8 11356354 11356354 single base substitution T A intron_variant LIRI-JP 8 11358553 11358553 single base substitution A T intron_variant LIRI-JP 8 11358790 11358790 single base substitution A G intron_variant LIRI-JP 8 11358960 11358960 single base substitution C T intron_variant LIRI-JP 8 11361204 11361204 single base substitution C G intron_variant LIRI-JP 8 11362677 11362677 single base substitution C T intron_variant LIRI-JP 8 11366001 11366001 single base substitution G T intron_variant LIRI-JP 8 11367670 11367670 single base substitution C T downstream_gene_variant LIRI-JP 8 11367670 11367670 single base substitution C T intron_variant LIRI-JP 8 11368681 11368681 single base substitution C T downstream_gene_variant LIRI-JP 8 11368681 11368681 single base substitution C T intron_variant LIRI-JP 8 11373926 11373926 single base substitution G A intron_variant LIRI-JP 8 11374843 11374843 single base substitution C A intron_variant LIRI-JP 8 11376289 11376289 single base substitution C G intron_variant LIRI-JP 8 11379511 11379511 single base substitution G A intron_variant LIRI-JP 8 11383647 11383648 deletion of <=200bp TC - intron_variant LIRI-JP 8 11385971 11385971 single base substitution T C intron_variant LIRI-JP 8 11387311 11387311 single base substitution A G intron_variant LIRI-JP 8 11387992 11387992 single base substitution C T intron_variant LIRI-JP 8 11388783 11388783 single base substitution T A intron_variant LIRI-JP 8 11389602 11389602 single base substitution A G intron_variant LIRI-JP 8 11390856 11390856 single base substitution T C intron_variant LIRI-JP 8 11391301 11391301 single base substitution T C intron_variant LIRI-JP 8 11393385 11393385 single base substitution A G intron_variant LIRI-JP 8 11396522 11396522 single base substitution T C intron_variant LIRI-JP 8 11399251 11399251 single base substitution C T intron_variant LIRI-JP 8 11399251 11399251 single base substitution C T upstream_gene_variant LIRI-JP 8 11402354 11402354 single base substitution A G intron_variant LIRI-JP 8 11402354 11402354 single base substitution A G upstream_gene_variant LIRI-JP 8 11405039 11405039 single base substitution G T intron_variant LIRI-JP 8 11405039 11405039 single base substitution G T upstream_gene_variant LIRI-JP 8 11406139 11406139 single base substitution T A intron_variant LIRI-JP 8 11406139 11406139 single base substitution T A upstream_gene_variant LIRI-JP 8 11408720 11408720 single base substitution G A downstream_gene_variant LIRI-JP 8 11408720 11408720 single base substitution G A intron_variant LIRI-JP 8 11408989 11408989 single base substitution A G downstream_gene_variant LIRI-JP 8 11408989 11408989 single base substitution A G intron_variant LIRI-JP 8 11410171 11410171 single base substitution C T downstream_gene_variant LIRI-JP 8 11410171 11410171 single base substitution C T intron_variant LIRI-JP 8 11410175 11410175 single base substitution A G downstream_gene_variant LIRI-JP 8 11410175 11410175 single base substitution A G intron_variant LIRI-JP 8 11412263 11412263 single base substitution C T exon_variant LIRI-JP 8 11412263 11412263 single base substitution C T synonymous_variant L162L 484C>T LIRI-JP 8 11412263 11412263 single base substitution C T synonymous_variant L91L 271C>T LIRI-JP 8 11422443 11422443 single base substitution T C downstream_gene_variant LIRI-JP 8 11424140 11424140 single base substitution A G downstream_gene_variant LUSC-KR 8 11347648 11347648 single base substitution A G upstream_gene_variant LUSC-KR 8 11350409 11350409 single base substitution C G upstream_gene_variant LUSC-KR 8 11352003 11352003 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 8 11352003 11352003 single base substitution G T exon_variant LUSC-KR 8 11354177 11354177 single base substitution C A intron_variant LUSC-KR 8 11358239 11358239 single base substitution C G intron_variant LUSC-KR 8 11363501 11363501 single base substitution C A intron_variant LUSC-KR 8 11365441 11365441 single base substitution G A intron_variant LUSC-KR 8 11369896 11369896 single base substitution C T downstream_gene_variant LUSC-KR 8 11369896 11369896 single base substitution C T intron_variant LUSC-KR 8 11371252 11371252 single base substitution G C downstream_gene_variant LUSC-KR 8 11371252 11371252 single base substitution G C intron_variant LUSC-KR 8 11371988 11371988 single base substitution A G downstream_gene_variant LUSC-KR 8 11371988 11371988 single base substitution A G intron_variant LUSC-KR 8 11372020 11372020 single base substitution G A downstream_gene_variant LUSC-KR 8 11372020 11372020 single base substitution G A intron_variant LUSC-KR 8 11373511 11373511 single base substitution T C intron_variant LUSC-KR 8 11375697 11375697 single base substitution T A intron_variant LUSC-KR 8 11381202 11381202 single base substitution C G intron_variant LUSC-KR 8 11381800 11381800 single base substitution T C intron_variant LUSC-KR 8 11386260 11386260 single base substitution A T intron_variant LUSC-KR 8 11389728 11389728 single base substitution G C intron_variant LUSC-KR 8 11390210 11390210 single base substitution G T intron_variant LUSC-KR 8 11390370 11390370 single base substitution G C intron_variant LUSC-KR 8 11391518 11391518 single base substitution G C intron_variant LUSC-KR 8 11394028 11394028 single base substitution T C intron_variant LUSC-KR 8 11394394 11394394 single base substitution C G intron_variant LUSC-KR 8 11394801 11394801 single base substitution G C intron_variant LUSC-KR 8 11396093 11396093 single base substitution T C intron_variant LUSC-KR 8 11400267 11400267 single base substitution G T intron_variant LUSC-KR 8 11400267 11400267 single base substitution G T upstream_gene_variant LUSC-KR 8 11404364 11404364 single base substitution C A intron_variant LUSC-KR 8 11404364 11404364 single base substitution C A upstream_gene_variant LUSC-KR 8 11406306 11406306 single base substitution C A intron_variant LUSC-KR 8 11406306 11406306 single base substitution C A upstream_gene_variant LUSC-KR 8 11409895 11409895 single base substitution C A downstream_gene_variant LUSC-KR 8 11409895 11409895 single base substitution C A intron_variant LUSC-KR 8 11411194 11411194 single base substitution C G downstream_gene_variant LUSC-KR 8 11411194 11411194 single base substitution C G intron_variant LUSC-KR 8 11411407 11411407 single base substitution A G downstream_gene_variant LUSC-KR 8 11411407 11411407 single base substitution A G intron_variant LUSC-KR 8 11415337 11415337 single base substitution G T downstream_gene_variant LUSC-KR 8 11415337 11415337 single base substitution G T intron_variant LUSC-KR 8 11415337 11415337 single base substitution G T upstream_gene_variant LUSC-KR 8 11417622 11417622 single base substitution G T downstream_gene_variant LUSC-KR 8 11417622 11417622 single base substitution G T intron_variant LUSC-KR 8 11417622 11417622 single base substitution G T upstream_gene_variant LUSC-KR 8 11419899 11419899 single base substitution T G intron_variant LUSC-KR 8 11419973 11419973 single base substitution A T intron_variant LUSC-KR 8 11425658 11425658 single base substitution G A downstream_gene_variant LUSC-KR 8 11426624 11426624 single base substitution G C downstream_gene_variant LUSC-US 8 11400774 11400774 single base substitution C T intron_variant LUSC-US 8 11400774 11400774 single base substitution C T missense_variant P14L 41C>T LUSC-US 8 11400774 11400774 single base substitution C T upstream_gene_variant LUSC-US 8 11403590 11403590 single base substitution G T 5_prime_UTR_variant LUSC-US 8 11403590 11403590 single base substitution G T exon_variant LUSC-US 8 11403590 11403590 single base substitution G T synonymous_variant P51P 153G>T LUSC-US 8 11403590 11403590 single base substitution G T upstream_gene_variant LUSC-US 8 11412926 11412926 single base substitution G A exon_variant LUSC-US 8 11412926 11412926 single base substitution G A synonymous_variant E164E 492G>A LUSC-US 8 11412926 11412926 single base substitution G A synonymous_variant E235E 705G>A LUSC-US 8 11412926 11412926 single base substitution G A upstream_gene_variant LUSC-US 8 11414226 11414226 single base substitution C G exon_variant LUSC-US 8 11414226 11414226 single base substitution C G missense_variant P207A 619C>G LUSC-US 8 11414226 11414226 single base substitution C G missense_variant P278A 832C>G LUSC-US 8 11414226 11414226 single base substitution C G upstream_gene_variant LUSC-US 8 11415529 11415529 single base substitution G C downstream_gene_variant LUSC-US 8 11415529 11415529 single base substitution G C synonymous_variant L266L 798G>C LUSC-US 8 11415529 11415529 single base substitution G C synonymous_variant L337L 1011G>C LUSC-US 8 11415529 11415529 single base substitution G C upstream_gene_variant LUSC-US 8 11420487 11420487 single base substitution G A splice_acceptor_variant LUSC-US 8 11421500 11421500 single base substitution C G exon_variant LUSC-US 8 11421500 11421500 single base substitution C G synonymous_variant G396G 1188C>G LUSC-US 8 11421500 11421500 single base substitution C G synonymous_variant G467G 1401C>G MALY-DE 8 11347725 11347725 single base substitution G A upstream_gene_variant MALY-DE 8 11347726 11347726 single base substitution A T upstream_gene_variant MALY-DE 8 11347781 11347781 single base substitution A T upstream_gene_variant MALY-DE 8 11350377 11350377 single base substitution G A upstream_gene_variant MALY-DE 8 11351075 11351075 single base substitution G C upstream_gene_variant MALY-DE 8 11351178 11351178 single base substitution C T upstream_gene_variant MALY-DE 8 11351367 11351367 single base substitution T A upstream_gene_variant MALY-DE 8 11351456 11351456 single base substitution C G upstream_gene_variant MALY-DE 8 11351660 11351660 single base substitution C T 5_prime_UTR_variant MALY-DE 8 11351660 11351660 single base substitution C T upstream_gene_variant MALY-DE 8 11352335 11352335 single base substitution C T intron_variant MALY-DE 8 11352385 11352385 single base substitution A G intron_variant MALY-DE 8 11352476 11352476 single base substitution G A intron_variant MALY-DE 8 11352549 11352549 single base substitution T C intron_variant MALY-DE 8 11352558 11352558 single base substitution G C intron_variant MALY-DE 8 11352620 11352620 single base substitution A G intron_variant MALY-DE 8 11352665 11352665 single base substitution A G intron_variant MALY-DE 8 11352754 11352754 single base substitution A T intron_variant MALY-DE 8 11352772 11352772 single base substitution T G intron_variant MALY-DE 8 11352803 11352803 single base substitution T A intron_variant MALY-DE 8 11352812 11352812 single base substitution G T intron_variant MALY-DE 8 11352820 11352820 single base substitution G C intron_variant MALY-DE 8 11352839 11352839 single base substitution C T intron_variant MALY-DE 8 11352853 11352853 single base substitution T G intron_variant MALY-DE 8 11352939 11352939 single base substitution G A intron_variant MALY-DE 8 11352940 11352940 single base substitution C T intron_variant MALY-DE 8 11352993 11352993 single base substitution C T intron_variant MALY-DE 8 11353027 11353027 single base substitution C G intron_variant MALY-DE 8 11353203 11353203 single base substitution G A intron_variant MALY-DE 8 11353327 11353327 single base substitution C T intron_variant MALY-DE 8 11353331 11353331 single base substitution T C intron_variant MALY-DE 8 11354094 11354094 single base substitution G A intron_variant MALY-DE 8 11354329 11354329 single base substitution G C intron_variant MALY-DE 8 11354691 11354691 single base substitution A G intron_variant MALY-DE 8 11356695 11356695 single base substitution A G intron_variant MALY-DE 8 11359199 11359199 single base substitution T G intron_variant MALY-DE 8 11360174 11360174 single base substitution G A intron_variant MALY-DE 8 11360520 11360520 single base substitution A G intron_variant MALY-DE 8 11360635 11360635 single base substitution A T intron_variant MALY-DE 8 11360637 11360637 single base substitution A C intron_variant MALY-DE 8 11368284 11368287 deletion of <=200bp AAAT - downstream_gene_variant MALY-DE 8 11368284 11368287 deletion of <=200bp AAAT - intron_variant MALY-DE 8 11369861 11369861 single base substitution A G downstream_gene_variant MALY-DE 8 11369861 11369861 single base substitution A G intron_variant MALY-DE 8 11372631 11372631 single base substitution T C intron_variant MALY-DE 8 11384296 11384296 single base substitution T G intron_variant MALY-DE 8 11386078 11386078 single base substitution A G intron_variant MALY-DE 8 11386154 11386154 single base substitution A G intron_variant MALY-DE 8 11389860 11389860 single base substitution A T intron_variant MALY-DE 8 11390052 11390052 single base substitution T C intron_variant MALY-DE 8 11390722 11390722 single base substitution A C intron_variant MALY-DE 8 11390839 11390839 single base substitution A G intron_variant MALY-DE 8 11394355 11394355 single base substitution A G intron_variant MALY-DE 8 11394528 11394528 single base substitution G C intron_variant MALY-DE 8 11394903 11394903 single base substitution C T intron_variant MALY-DE 8 11394961 11394961 single base substitution C T intron_variant MALY-DE 8 11396071 11396071 single base substitution T A intron_variant MALY-DE 8 11396569 11396569 single base substitution T A intron_variant MALY-DE 8 11396816 11396816 single base substitution A T intron_variant MALY-DE 8 11403445 11403445 single base substitution C G exon_variant MALY-DE 8 11403445 11403445 single base substitution C G intron_variant MALY-DE 8 11403445 11403445 single base substitution C G upstream_gene_variant MALY-DE 8 11412755 11412755 single base substitution A G intron_variant MALY-DE 8 11419091 11419091 single base substitution T C downstream_gene_variant MALY-DE 8 11419091 11419091 single base substitution T C intron_variant MALY-DE 8 11419654 11419654 single base substitution C T intron_variant MALY-DE 8 11423343 11423343 single base substitution C T downstream_gene_variant MALY-DE 8 11423850 11423850 single base substitution T C downstream_gene_variant MALY-DE 8 11425628 11425628 single base substitution T G downstream_gene_variant MALY-DE 8 11425731 11425731 single base substitution A G downstream_gene_variant MALY-DE 8 11426582 11426582 single base substitution G A downstream_gene_variant MELA-AU 8 11346604 11346604 single base substitution T C upstream_gene_variant MELA-AU 8 11346760 11346760 single base substitution C T upstream_gene_variant MELA-AU 8 11347291 11347291 single base substitution C T upstream_gene_variant MELA-AU 8 11347367 11347367 single base substitution C T upstream_gene_variant MELA-AU 8 11347417 11347417 single base substitution C T upstream_gene_variant MELA-AU 8 11347428 11347428 single base substitution C T upstream_gene_variant MELA-AU 8 11347491 11347491 single base substitution C T upstream_gene_variant MELA-AU 8 11347520 11347521 multiple base substitution (>=2bp and <=200bp) TC AT upstream_gene_variant MELA-AU 8 11347565 11347565 single base substitution C G upstream_gene_variant MELA-AU 8 11347586 11347586 single base substitution C T upstream_gene_variant MELA-AU 8 11347663 11347663 single base substitution C T upstream_gene_variant MELA-AU 8 11347674 11347674 single base substitution C T upstream_gene_variant MELA-AU 8 11347802 11347802 single base substitution G A upstream_gene_variant MELA-AU 8 11347933 11347933 single base substitution G A upstream_gene_variant MELA-AU 8 11347988 11347988 single base substitution G A upstream_gene_variant MELA-AU 8 11348223 11348223 single base substitution G A upstream_gene_variant MELA-AU 8 11348357 11348357 single base substitution A C upstream_gene_variant MELA-AU 8 11348444 11348444 single base substitution C T upstream_gene_variant MELA-AU 8 11348522 11348522 single base substitution C T upstream_gene_variant MELA-AU 8 11348879 11348879 single base substitution A C upstream_gene_variant MELA-AU 8 11348912 11348912 single base substitution C T upstream_gene_variant MELA-AU 8 11349319 11349319 single base substitution G A upstream_gene_variant MELA-AU 8 11349336 11349336 single base substitution G A upstream_gene_variant MELA-AU 8 11349661 11349661 single base substitution C T upstream_gene_variant MELA-AU 8 11350172 11350172 single base substitution T C upstream_gene_variant MELA-AU 8 11350396 11350396 single base substitution C T upstream_gene_variant MELA-AU 8 11350465 11350465 single base substitution G A upstream_gene_variant MELA-AU 8 11350524 11350524 single base substitution T C upstream_gene_variant MELA-AU 8 11350816 11350816 single base substitution C T upstream_gene_variant MELA-AU 8 11350921 11350921 single base substitution G A upstream_gene_variant MELA-AU 8 11351327 11351327 single base substitution C T upstream_gene_variant MELA-AU 8 11351556 11351556 single base substitution C T 5_prime_UTR_variant MELA-AU 8 11351556 11351556 single base substitution C T upstream_gene_variant MELA-AU 8 11352156 11352156 single base substitution G C intron_variant MELA-AU 8 11352264 11352264 single base substitution C T intron_variant MELA-AU 8 11352735 11352735 single base substitution A G intron_variant MELA-AU 8 11352741 11352741 single base substitution C T intron_variant MELA-AU 8 11352864 11352864 single base substitution C T intron_variant MELA-AU 8 11352927 11352928 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 11353057 11353057 single base substitution C A intron_variant MELA-AU 8 11353076 11353076 single base substitution C T intron_variant MELA-AU 8 11353152 11353152 single base substitution G A intron_variant MELA-AU 8 11353343 11353343 single base substitution C T intron_variant MELA-AU 8 11353493 11353493 single base substitution C T intron_variant MELA-AU 8 11353530 11353530 single base substitution G A intron_variant MELA-AU 8 11353632 11353632 single base substitution A G intron_variant MELA-AU 8 11353674 11353674 single base substitution C T intron_variant MELA-AU 8 11353693 11353693 single base substitution G A intron_variant MELA-AU 8 11353743 11353743 single base substitution C T intron_variant MELA-AU 8 11353746 11353746 single base substitution T A intron_variant MELA-AU 8 11353754 11353754 single base substitution T C intron_variant MELA-AU 8 11353852 11353852 single base substitution G A intron_variant MELA-AU 8 11353966 11353966 single base substitution G A intron_variant MELA-AU 8 11354269 11354269 single base substitution G A intron_variant MELA-AU 8 11354406 11354406 single base substitution C T intron_variant MELA-AU 8 11354636 11354636 single base substitution G A intron_variant MELA-AU 8 11354699 11354699 single base substitution G A intron_variant MELA-AU 8 11354794 11354794 single base substitution C T intron_variant MELA-AU 8 11354872 11354872 single base substitution C T intron_variant MELA-AU 8 11355190 11355190 single base substitution G A intron_variant MELA-AU 8 11355280 11355280 single base substitution G A intron_variant MELA-AU 8 11355337 11355337 single base substitution C T intron_variant MELA-AU 8 11355377 11355377 single base substitution C T intron_variant MELA-AU 8 11355612 11355612 single base substitution C T intron_variant MELA-AU 8 11355722 11355722 single base substitution C T intron_variant MELA-AU 8 11355779 11355779 single base substitution C T intron_variant MELA-AU 8 11355944 11355944 single base substitution C T intron_variant MELA-AU 8 11356869 11356869 single base substitution C T intron_variant MELA-AU 8 11356871 11356871 single base substitution G A intron_variant MELA-AU 8 11357092 11357093 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 8 11357131 11357131 single base substitution C T intron_variant MELA-AU 8 11357185 11357185 single base substitution C T intron_variant MELA-AU 8 11357543 11357543 single base substitution G A intron_variant MELA-AU 8 11357962 11357962 single base substitution C T intron_variant MELA-AU 8 11358091 11358091 single base substitution C T intron_variant MELA-AU 8 11358110 11358110 single base substitution C T intron_variant MELA-AU 8 11358115 11358115 single base substitution C T intron_variant MELA-AU 8 11358356 11358356 single base substitution C T intron_variant MELA-AU 8 11358645 11358645 single base substitution G A intron_variant MELA-AU 8 11358700 11358700 single base substitution G A intron_variant MELA-AU 8 11358892 11358892 single base substitution G A intron_variant MELA-AU 8 11359222 11359222 single base substitution C T intron_variant MELA-AU 8 11359644 11359644 single base substitution G A intron_variant MELA-AU 8 11360222 11360222 single base substitution G A intron_variant MELA-AU 8 11360417 11360418 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 11360554 11360554 single base substitution C T intron_variant MELA-AU 8 11360652 11360652 single base substitution G A intron_variant MELA-AU 8 11360727 11360727 single base substitution G A intron_variant MELA-AU 8 11360820 11360820 single base substitution G A intron_variant MELA-AU 8 11360831 11360831 single base substitution G A intron_variant MELA-AU 8 11360891 11360891 single base substitution C T intron_variant MELA-AU 8 11361149 11361149 single base substitution G A intron_variant MELA-AU 8 11361171 11361171 single base substitution C T intron_variant MELA-AU 8 11361192 11361192 single base substitution G A intron_variant MELA-AU 8 11361350 11361350 single base substitution C T intron_variant MELA-AU 8 11361496 11361496 single base substitution G C intron_variant MELA-AU 8 11361557 11361557 single base substitution G A intron_variant MELA-AU 8 11361786 11361786 single base substitution C T intron_variant MELA-AU 8 11361877 11361877 single base substitution A G intron_variant MELA-AU 8 11362138 11362138 single base substitution G A intron_variant MELA-AU 8 11362184 11362184 single base substitution C T intron_variant MELA-AU 8 11362343 11362343 single base substitution G A intron_variant MELA-AU 8 11362366 11362366 single base substitution G A intron_variant MELA-AU 8 11362778 11362778 single base substitution C A intron_variant MELA-AU 8 11362778 11362778 single base substitution C T intron_variant MELA-AU 8 11362854 11362854 single base substitution G A intron_variant MELA-AU 8 11362871 11362871 single base substitution G A intron_variant MELA-AU 8 11362896 11362896 single base substitution C T intron_variant MELA-AU 8 11363084 11363084 single base substitution C T intron_variant MELA-AU 8 11363415 11363415 single base substitution C T intron_variant MELA-AU 8 11363521 11363521 single base substitution C T intron_variant MELA-AU 8 11363531 11363531 single base substitution C T intron_variant MELA-AU 8 11364108 11364108 single base substitution G A intron_variant MELA-AU 8 11364146 11364146 single base substitution C T intron_variant MELA-AU 8 11364175 11364175 single base substitution C T intron_variant MELA-AU 8 11364327 11364327 single base substitution C T intron_variant MELA-AU 8 11364357 11364357 single base substitution G A intron_variant MELA-AU 8 11364429 11364429 single base substitution C T intron_variant MELA-AU 8 11364444 11364444 single base substitution G T intron_variant MELA-AU 8 11364723 11364723 single base substitution G A intron_variant MELA-AU 8 11364826 11364826 single base substitution C T intron_variant MELA-AU 8 11364852 11364852 single base substitution G A intron_variant MELA-AU 8 11364923 11364923 single base substitution G A intron_variant MELA-AU 8 11364989 11364989 single base substitution C T intron_variant MELA-AU 8 11365058 11365058 single base substitution G A intron_variant MELA-AU 8 11365161 11365161 single base substitution G A intron_variant MELA-AU 8 11365279 11365279 single base substitution G A intron_variant MELA-AU 8 11365609 11365609 single base substitution C T intron_variant MELA-AU 8 11366054 11366054 single base substitution C T intron_variant MELA-AU 8 11366059 11366059 single base substitution C T intron_variant MELA-AU 8 11366472 11366472 single base substitution C T intron_variant MELA-AU 8 11366490 11366490 single base substitution G A intron_variant MELA-AU 8 11366685 11366685 single base substitution C T exon_variant MELA-AU 8 11366685 11366685 single base substitution C T intron_variant MELA-AU 8 11367450 11367450 single base substitution A G downstream_gene_variant MELA-AU 8 11367450 11367450 single base substitution A G intron_variant MELA-AU 8 11367532 11367532 single base substitution G A downstream_gene_variant MELA-AU 8 11367532 11367532 single base substitution G A intron_variant MELA-AU 8 11367684 11367684 single base substitution G A downstream_gene_variant MELA-AU 8 11367684 11367684 single base substitution G A intron_variant MELA-AU 8 11367785 11367785 single base substitution C T downstream_gene_variant MELA-AU 8 11367785 11367785 single base substitution C T intron_variant MELA-AU 8 11367829 11367829 single base substitution G A downstream_gene_variant MELA-AU 8 11367829 11367829 single base substitution G A intron_variant MELA-AU 8 11367997 11367997 single base substitution C T downstream_gene_variant MELA-AU 8 11367997 11367997 single base substitution C T intron_variant MELA-AU 8 11368144 11368144 single base substitution C T downstream_gene_variant MELA-AU 8 11368144 11368144 single base substitution C T intron_variant MELA-AU 8 11368212 11368212 single base substitution A T downstream_gene_variant MELA-AU 8 11368212 11368212 single base substitution A T intron_variant MELA-AU 8 11368284 11368287 deletion of <=200bp AAAT - downstream_gene_variant MELA-AU 8 11368284 11368287 deletion of <=200bp AAAT - intron_variant MELA-AU 8 11368325 11368325 single base substitution A C downstream_gene_variant MELA-AU 8 11368325 11368325 single base substitution A C intron_variant MELA-AU 8 11368715 11368715 single base substitution C T downstream_gene_variant MELA-AU 8 11368715 11368715 single base substitution C T intron_variant MELA-AU 8 11368835 11368835 single base substitution G A downstream_gene_variant MELA-AU 8 11368835 11368835 single base substitution G A intron_variant MELA-AU 8 11369060 11369060 single base substitution C T downstream_gene_variant MELA-AU 8 11369060 11369060 single base substitution C T intron_variant MELA-AU 8 11369136 11369136 single base substitution G A downstream_gene_variant MELA-AU 8 11369136 11369136 single base substitution G A intron_variant MELA-AU 8 11369507 11369507 single base substitution C T downstream_gene_variant MELA-AU 8 11369507 11369507 single base substitution C T intron_variant MELA-AU 8 11369738 11369738 single base substitution G A downstream_gene_variant MELA-AU 8 11369738 11369738 single base substitution G A intron_variant MELA-AU 8 11369753 11369753 single base substitution G A downstream_gene_variant MELA-AU 8 11369753 11369753 single base substitution G A intron_variant MELA-AU 8 11370162 11370162 single base substitution G A downstream_gene_variant MELA-AU 8 11370162 11370162 single base substitution G A intron_variant MELA-AU 8 11370222 11370222 single base substitution G A downstream_gene_variant MELA-AU 8 11370222 11370222 single base substitution G A intron_variant MELA-AU 8 11370427 11370427 single base substitution C T downstream_gene_variant MELA-AU 8 11370427 11370427 single base substitution C T intron_variant MELA-AU 8 11370776 11370776 single base substitution G A downstream_gene_variant MELA-AU 8 11370776 11370776 single base substitution G A intron_variant MELA-AU 8 11370877 11370877 single base substitution G A downstream_gene_variant MELA-AU 8 11370877 11370877 single base substitution G A intron_variant MELA-AU 8 11370986 11370986 single base substitution C T downstream_gene_variant MELA-AU 8 11370986 11370986 single base substitution C T intron_variant MELA-AU 8 11371176 11371176 single base substitution C T downstream_gene_variant MELA-AU 8 11371176 11371176 single base substitution C T intron_variant MELA-AU 8 11371216 11371216 single base substitution C T downstream_gene_variant MELA-AU 8 11371216 11371216 single base substitution C T intron_variant MELA-AU 8 11371303 11371303 single base substitution A C downstream_gene_variant MELA-AU 8 11371303 11371303 single base substitution A C intron_variant MELA-AU 8 11371420 11371420 single base substitution C T downstream_gene_variant MELA-AU 8 11371420 11371420 single base substitution C T intron_variant MELA-AU 8 11371520 11371520 single base substitution T C downstream_gene_variant MELA-AU 8 11371520 11371520 single base substitution T C intron_variant MELA-AU 8 11371571 11371571 single base substitution G A downstream_gene_variant MELA-AU 8 11371571 11371571 single base substitution G A intron_variant MELA-AU 8 11371654 11371654 single base substitution C T downstream_gene_variant MELA-AU 8 11371654 11371654 single base substitution C T intron_variant MELA-AU 8 11371780 11371780 single base substitution G C downstream_gene_variant MELA-AU 8 11371780 11371780 single base substitution G C intron_variant MELA-AU 8 11371835 11371835 single base substitution C T downstream_gene_variant MELA-AU 8 11371835 11371835 single base substitution C T intron_variant MELA-AU 8 11371850 11371850 single base substitution G A downstream_gene_variant MELA-AU 8 11371850 11371850 single base substitution G A intron_variant MELA-AU 8 11371944 11371944 single base substitution G A downstream_gene_variant MELA-AU 8 11371944 11371944 single base substitution G A intron_variant MELA-AU 8 11372120 11372120 single base substitution C T downstream_gene_variant MELA-AU 8 11372120 11372120 single base substitution C T intron_variant MELA-AU 8 11372167 11372167 single base substitution C T downstream_gene_variant MELA-AU 8 11372167 11372167 single base substitution C T intron_variant MELA-AU 8 11372175 11372176 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 11372175 11372176 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 11372277 11372277 single base substitution G A downstream_gene_variant MELA-AU 8 11372277 11372277 single base substitution G A intron_variant MELA-AU 8 11372381 11372381 single base substitution C T downstream_gene_variant MELA-AU 8 11372381 11372381 single base substitution C T intron_variant MELA-AU 8 11372529 11372529 single base substitution C T intron_variant MELA-AU 8 11372658 11372658 single base substitution G A intron_variant MELA-AU 8 11372725 11372725 single base substitution G A intron_variant MELA-AU 8 11372765 11372765 single base substitution C T intron_variant MELA-AU 8 11372861 11372861 single base substitution C A intron_variant MELA-AU 8 11372930 11372930 single base substitution C T intron_variant MELA-AU 8 11372933 11372933 single base substitution C T intron_variant MELA-AU 8 11372953 11372953 single base substitution G A intron_variant MELA-AU 8 11372967 11372967 single base substitution G A intron_variant MELA-AU 8 11373277 11373277 single base substitution G A intron_variant MELA-AU 8 11373338 11373338 single base substitution G A intron_variant MELA-AU 8 11373602 11373602 single base substitution G A intron_variant MELA-AU 8 11373654 11373654 single base substitution G A intron_variant MELA-AU 8 11373675 11373675 single base substitution G A intron_variant MELA-AU 8 11373707 11373707 single base substitution C T intron_variant MELA-AU 8 11373806 11373806 single base substitution G A intron_variant MELA-AU 8 11373909 11373909 single base substitution C T intron_variant MELA-AU 8 11373935 11373935 single base substitution C T intron_variant MELA-AU 8 11373966 11373966 single base substitution G A intron_variant MELA-AU 8 11374248 11374248 single base substitution C T intron_variant MELA-AU 8 11374438 11374438 single base substitution G A intron_variant MELA-AU 8 11374621 11374621 single base substitution G A intron_variant MELA-AU 8 11374843 11374843 single base substitution C T intron_variant MELA-AU 8 11374853 11374853 single base substitution G A intron_variant MELA-AU 8 11374883 11374883 single base substitution C T intron_variant MELA-AU 8 11374976 11374976 single base substitution C T intron_variant MELA-AU 8 11375078 11375078 single base substitution C T intron_variant MELA-AU 8 11375103 11375103 single base substitution C T intron_variant MELA-AU 8 11375106 11375106 single base substitution G A intron_variant MELA-AU 8 11375340 11375340 single base substitution C T intron_variant MELA-AU 8 11375371 11375371 single base substitution C T intron_variant MELA-AU 8 11375377 11375377 single base substitution G A intron_variant MELA-AU 8 11375382 11375382 single base substitution G A intron_variant MELA-AU 8 11375438 11375438 single base substitution C T intron_variant MELA-AU 8 11375680 11375680 single base substitution G A intron_variant MELA-AU 8 11375747 11375747 single base substitution C T intron_variant MELA-AU 8 11375819 11375819 single base substitution G A intron_variant MELA-AU 8 11375873 11375873 single base substitution C T intron_variant MELA-AU 8 11375898 11375898 single base substitution G A intron_variant MELA-AU 8 11376106 11376106 single base substitution C T intron_variant MELA-AU 8 11376286 11376286 single base substitution C T intron_variant MELA-AU 8 11376363 11376363 single base substitution C T intron_variant MELA-AU 8 11376422 11376422 single base substitution G A intron_variant MELA-AU 8 11376492 11376492 single base substitution G A intron_variant MELA-AU 8 11376586 11376586 single base substitution C T intron_variant MELA-AU 8 11376589 11376589 single base substitution C T intron_variant MELA-AU 8 11376751 11376751 single base substitution G A intron_variant MELA-AU 8 11376861 11376861 single base substitution C T intron_variant MELA-AU 8 11376896 11376896 single base substitution G A intron_variant MELA-AU 8 11376909 11376909 single base substitution G A intron_variant MELA-AU 8 11377231 11377231 single base substitution C T intron_variant MELA-AU 8 11377235 11377235 single base substitution G A intron_variant MELA-AU 8 11377439 11377439 single base substitution G A intron_variant MELA-AU 8 11377518 11377518 single base substitution C T intron_variant MELA-AU 8 11377783 11377783 single base substitution C T intron_variant MELA-AU 8 11377954 11377954 single base substitution C T intron_variant MELA-AU 8 11377969 11377969 single base substitution G A intron_variant MELA-AU 8 11378121 11378121 single base substitution C G intron_variant MELA-AU 8 11378209 11378209 single base substitution C T intron_variant MELA-AU 8 11378756 11378756 single base substitution C T intron_variant MELA-AU 8 11378977 11378977 single base substitution T A intron_variant MELA-AU 8 11379559 11379559 single base substitution G A intron_variant MELA-AU 8 11379661 11379661 single base substitution G A intron_variant MELA-AU 8 11379821 11379821 single base substitution G A intron_variant MELA-AU 8 11379897 11379897 single base substitution G A intron_variant MELA-AU 8 11379922 11379922 single base substitution G A intron_variant MELA-AU 8 11379949 11379949 single base substitution G T intron_variant MELA-AU 8 11380033 11380033 single base substitution C T intron_variant MELA-AU 8 11380358 11380358 single base substitution C T intron_variant MELA-AU 8 11380466 11380466 single base substitution C T intron_variant MELA-AU 8 11380603 11380603 single base substitution G A intron_variant MELA-AU 8 11380604 11380604 insertion of <=200bp - A intron_variant MELA-AU 8 11380748 11380748 single base substitution C T intron_variant MELA-AU 8 11380811 11380811 single base substitution C T intron_variant MELA-AU 8 11380839 11380839 single base substitution G A intron_variant MELA-AU 8 11380934 11380934 single base substitution C T intron_variant MELA-AU 8 11380957 11380957 single base substitution G A intron_variant MELA-AU 8 11380976 11380976 single base substitution C T intron_variant MELA-AU 8 11381111 11381111 single base substitution A C intron_variant MELA-AU 8 11381193 11381193 single base substitution G A intron_variant MELA-AU 8 11381330 11381330 single base substitution G A intron_variant MELA-AU 8 11381409 11381409 single base substitution C T intron_variant MELA-AU 8 11381837 11381837 single base substitution C T intron_variant MELA-AU 8 11381860 11381860 single base substitution G A intron_variant MELA-AU 8 11381876 11381876 single base substitution C T intron_variant MELA-AU 8 11381986 11381986 single base substitution G A intron_variant MELA-AU 8 11382116 11382116 single base substitution G A intron_variant MELA-AU 8 11382118 11382118 single base substitution A G intron_variant MELA-AU 8 11382158 11382158 single base substitution G A intron_variant MELA-AU 8 11382185 11382185 single base substitution G A intron_variant MELA-AU 8 11382347 11382347 single base substitution G A intron_variant MELA-AU 8 11382638 11382638 single base substitution G C intron_variant MELA-AU 8 11382699 11382699 single base substitution G A intron_variant MELA-AU 8 11383167 11383167 single base substitution G A intron_variant MELA-AU 8 11383473 11383473 single base substitution G A intron_variant MELA-AU 8 11383717 11383717 single base substitution C T intron_variant MELA-AU 8 11383738 11383738 single base substitution A C intron_variant MELA-AU 8 11384211 11384211 single base substitution G A intron_variant MELA-AU 8 11384376 11384376 single base substitution G A intron_variant MELA-AU 8 11384448 11384448 single base substitution C T intron_variant MELA-AU 8 11384556 11384556 single base substitution C T intron_variant MELA-AU 8 11384589 11384589 single base substitution C T intron_variant MELA-AU 8 11384739 11384739 single base substitution C T intron_variant MELA-AU 8 11384797 11384797 single base substitution G A intron_variant MELA-AU 8 11384981 11384981 single base substitution T A intron_variant MELA-AU 8 11385158 11385158 single base substitution C T intron_variant MELA-AU 8 11385170 11385170 single base substitution G A intron_variant MELA-AU 8 11385214 11385214 single base substitution G A intron_variant MELA-AU 8 11385504 11385504 single base substitution C T intron_variant MELA-AU 8 11385790 11385790 single base substitution C T intron_variant MELA-AU 8 11385800 11385800 single base substitution C T intron_variant MELA-AU 8 11385814 11385814 single base substitution G T intron_variant MELA-AU 8 11385883 11385883 single base substitution C T intron_variant MELA-AU 8 11386006 11386006 single base substitution C T intron_variant MELA-AU 8 11386217 11386217 single base substitution G A intron_variant MELA-AU 8 11386237 11386237 single base substitution C T intron_variant MELA-AU 8 11386287 11386288 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 8 11386420 11386420 single base substitution G A intron_variant MELA-AU 8 11386471 11386471 single base substitution G A intron_variant MELA-AU 8 11386482 11386482 single base substitution G A intron_variant MELA-AU 8 11386597 11386597 single base substitution C T intron_variant MELA-AU 8 11386656 11386656 single base substitution G A intron_variant MELA-AU 8 11386725 11386725 single base substitution G A intron_variant MELA-AU 8 11386825 11386825 single base substitution G A intron_variant MELA-AU 8 11386834 11386834 single base substitution A G intron_variant MELA-AU 8 11386855 11386855 single base substitution G A intron_variant MELA-AU 8 11387045 11387045 single base substitution G A intron_variant MELA-AU 8 11387069 11387069 single base substitution C T intron_variant MELA-AU 8 11387071 11387071 single base substitution G A intron_variant MELA-AU 8 11387119 11387119 single base substitution C T intron_variant MELA-AU 8 11387147 11387147 single base substitution G A intron_variant MELA-AU 8 11387264 11387264 single base substitution G A intron_variant MELA-AU 8 11387420 11387420 single base substitution G A intron_variant MELA-AU 8 11387439 11387439 single base substitution C T intron_variant MELA-AU 8 11387543 11387543 single base substitution T C intron_variant MELA-AU 8 11387585 11387585 single base substitution G A intron_variant MELA-AU 8 11387731 11387731 single base substitution C T intron_variant MELA-AU 8 11387784 11387784 single base substitution C T intron_variant MELA-AU 8 11387832 11387832 single base substitution G A intron_variant MELA-AU 8 11387940 11387940 single base substitution C T intron_variant MELA-AU 8 11387990 11387990 single base substitution A G intron_variant MELA-AU 8 11388408 11388408 single base substitution G A intron_variant MELA-AU 8 11388412 11388412 single base substitution C T intron_variant MELA-AU 8 11388453 11388453 single base substitution C T intron_variant MELA-AU 8 11388675 11388675 single base substitution G A intron_variant MELA-AU 8 11388826 11388826 single base substitution C T intron_variant MELA-AU 8 11388857 11388857 single base substitution G A intron_variant MELA-AU 8 11388873 11388873 single base substitution G A intron_variant MELA-AU 8 11389085 11389085 single base substitution C T intron_variant MELA-AU 8 11389123 11389123 single base substitution A T intron_variant MELA-AU 8 11389147 11389147 single base substitution C T intron_variant MELA-AU 8 11389346 11389346 single base substitution C T intron_variant MELA-AU 8 11389491 11389492 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 11389620 11389620 single base substitution G A intron_variant MELA-AU 8 11389680 11389680 single base substitution C T intron_variant MELA-AU 8 11389758 11389758 single base substitution A C intron_variant MELA-AU 8 11389958 11389958 single base substitution G A intron_variant MELA-AU 8 11390136 11390136 single base substitution G A intron_variant MELA-AU 8 11390662 11390662 single base substitution C T intron_variant MELA-AU 8 11390698 11390698 single base substitution C T intron_variant MELA-AU 8 11390721 11390721 single base substitution C T intron_variant MELA-AU 8 11390749 11390749 single base substitution C T intron_variant MELA-AU 8 11390776 11390776 single base substitution C T intron_variant MELA-AU 8 11391078 11391078 single base substitution C T intron_variant MELA-AU 8 11391158 11391158 single base substitution G A intron_variant MELA-AU 8 11391327 11391327 single base substitution A T intron_variant MELA-AU 8 11391441 11391441 single base substitution G A intron_variant MELA-AU 8 11391940 11391940 single base substitution G A intron_variant MELA-AU 8 11391949 11391949 single base substitution C T intron_variant MELA-AU 8 11391985 11391985 single base substitution C T intron_variant MELA-AU 8 11392161 11392161 single base substitution C T intron_variant MELA-AU 8 11392177 11392177 single base substitution C T intron_variant MELA-AU 8 11392295 11392295 single base substitution C T intron_variant MELA-AU 8 11392330 11392330 single base substitution C T intron_variant MELA-AU 8 11392443 11392443 single base substitution G A intron_variant MELA-AU 8 11392598 11392598 single base substitution G A intron_variant MELA-AU 8 11392726 11392726 single base substitution G A intron_variant MELA-AU 8 11392740 11392740 single base substitution A G intron_variant MELA-AU 8 11392813 11392813 single base substitution G A intron_variant MELA-AU 8 11392942 11392942 single base substitution C T intron_variant MELA-AU 8 11393413 11393413 single base substitution G A intron_variant MELA-AU 8 11393497 11393497 single base substitution G A intron_variant MELA-AU 8 11393523 11393523 single base substitution G A intron_variant MELA-AU 8 11393546 11393547 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 11393781 11393781 single base substitution C T intron_variant MELA-AU 8 11393804 11393804 single base substitution G A intron_variant MELA-AU 8 11393985 11393985 single base substitution C T intron_variant MELA-AU 8 11394242 11394242 single base substitution A T intron_variant MELA-AU 8 11394278 11394278 single base substitution C T intron_variant MELA-AU 8 11394297 11394297 single base substitution C T intron_variant MELA-AU 8 11394336 11394336 single base substitution C T intron_variant MELA-AU 8 11394853 11394853 single base substitution C T intron_variant MELA-AU 8 11394872 11394872 single base substitution C T intron_variant MELA-AU 8 11394895 11394895 single base substitution C T intron_variant MELA-AU 8 11394982 11394982 single base substitution G A intron_variant MELA-AU 8 11395020 11395020 single base substitution G A intron_variant MELA-AU 8 11395025 11395025 single base substitution G A intron_variant MELA-AU 8 11395064 11395064 single base substitution G A intron_variant MELA-AU 8 11395285 11395285 single base substitution C T intron_variant MELA-AU 8 11395326 11395326 single base substitution C T intron_variant MELA-AU 8 11395693 11395693 single base substitution C T intron_variant MELA-AU 8 11395722 11395722 single base substitution G A intron_variant MELA-AU 8 11395753 11395753 single base substitution C T intron_variant MELA-AU 8 11396035 11396035 single base substitution G A intron_variant MELA-AU 8 11396253 11396253 single base substitution C T intron_variant MELA-AU 8 11396430 11396430 single base substitution A T intron_variant MELA-AU 8 11396610 11396610 single base substitution A G intron_variant MELA-AU 8 11396640 11396640 single base substitution C T intron_variant MELA-AU 8 11396819 11396819 single base substitution G A intron_variant MELA-AU 8 11396857 11396857 single base substitution T C intron_variant MELA-AU 8 11396951 11396951 single base substitution G A intron_variant MELA-AU 8 11397127 11397127 deletion of <=200bp A - intron_variant MELA-AU 8 11398330 11398330 single base substitution G A intron_variant MELA-AU 8 11398330 11398330 single base substitution G A upstream_gene_variant MELA-AU 8 11398447 11398447 single base substitution C T intron_variant MELA-AU 8 11398447 11398447 single base substitution C T upstream_gene_variant MELA-AU 8 11398832 11398832 single base substitution C T intron_variant MELA-AU 8 11398832 11398832 single base substitution C T upstream_gene_variant MELA-AU 8 11398944 11398944 single base substitution G A intron_variant MELA-AU 8 11398944 11398944 single base substitution G A upstream_gene_variant MELA-AU 8 11399886 11399886 single base substitution G A intron_variant MELA-AU 8 11399886 11399886 single base substitution G A upstream_gene_variant MELA-AU 8 11400084 11400085 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 11400084 11400085 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 11400164 11400164 single base substitution C T intron_variant MELA-AU 8 11400164 11400164 single base substitution C T upstream_gene_variant MELA-AU 8 11400248 11400248 single base substitution A T intron_variant MELA-AU 8 11400248 11400248 single base substitution A T upstream_gene_variant MELA-AU 8 11400457 11400457 single base substitution G A intron_variant MELA-AU 8 11400457 11400457 single base substitution G A upstream_gene_variant MELA-AU 8 11400666 11400666 single base substitution C T intron_variant MELA-AU 8 11400666 11400666 single base substitution C T upstream_gene_variant MELA-AU 8 11400784 11400784 single base substitution G A intron_variant MELA-AU 8 11400784 11400784 single base substitution G A synonymous_variant E17E 51G>A MELA-AU 8 11400784 11400784 single base substitution G A upstream_gene_variant MELA-AU 8 11400814 11400814 single base substitution G A intron_variant MELA-AU 8 11400814 11400814 single base substitution G A synonymous_variant K27K 81G>A MELA-AU 8 11400814 11400814 single base substitution G A upstream_gene_variant MELA-AU 8 11400968 11400968 single base substitution G A intron_variant MELA-AU 8 11400968 11400968 single base substitution G A upstream_gene_variant MELA-AU 8 11401263 11401263 single base substitution G A intron_variant MELA-AU 8 11401263 11401263 single base substitution G A upstream_gene_variant MELA-AU 8 11401581 11401581 single base substitution C T intron_variant MELA-AU 8 11401581 11401581 single base substitution C T upstream_gene_variant MELA-AU 8 11401670 11401670 single base substitution C T intron_variant MELA-AU 8 11401670 11401670 single base substitution C T upstream_gene_variant MELA-AU 8 11401699 11401699 single base substitution C T intron_variant MELA-AU 8 11401699 11401699 single base substitution C T upstream_gene_variant MELA-AU 8 11401751 11401751 single base substitution G A intron_variant MELA-AU 8 11401751 11401751 single base substitution G A upstream_gene_variant MELA-AU 8 11401778 11401778 single base substitution G A intron_variant MELA-AU 8 11401778 11401778 single base substitution G A upstream_gene_variant MELA-AU 8 11401855 11401855 single base substitution G A intron_variant MELA-AU 8 11401855 11401855 single base substitution G A upstream_gene_variant MELA-AU 8 11401914 11401914 single base substitution C T intron_variant MELA-AU 8 11401914 11401914 single base substitution C T upstream_gene_variant MELA-AU 8 11401941 11401941 single base substitution G A intron_variant MELA-AU 8 11401941 11401941 single base substitution G A upstream_gene_variant MELA-AU 8 11402364 11402364 single base substitution G C intron_variant MELA-AU 8 11402364 11402364 single base substitution G C upstream_gene_variant MELA-AU 8 11402432 11402432 single base substitution C T intron_variant MELA-AU 8 11402432 11402432 single base substitution C T upstream_gene_variant MELA-AU 8 11402546 11402546 single base substitution C T intron_variant MELA-AU 8 11402546 11402546 single base substitution C T upstream_gene_variant MELA-AU 8 11402775 11402775 single base substitution C T intron_variant MELA-AU 8 11402775 11402775 single base substitution C T upstream_gene_variant MELA-AU 8 11403505 11403505 single base substitution G A exon_variant MELA-AU 8 11403505 11403505 single base substitution G A intron_variant MELA-AU 8 11403505 11403505 single base substitution G A upstream_gene_variant MELA-AU 8 11403507 11403507 single base substitution C T exon_variant MELA-AU 8 11403507 11403507 single base substitution C T intron_variant MELA-AU 8 11403507 11403507 single base substitution C T upstream_gene_variant MELA-AU 8 11403524 11403524 single base substitution G A exon_variant MELA-AU 8 11403524 11403524 single base substitution G A intron_variant MELA-AU 8 11403524 11403524 single base substitution G A upstream_gene_variant MELA-AU 8 11403699 11403699 single base substitution G A intron_variant MELA-AU 8 11403699 11403699 single base substitution G A upstream_gene_variant MELA-AU 8 11403926 11403926 single base substitution A G intron_variant MELA-AU 8 11403926 11403926 single base substitution A G upstream_gene_variant MELA-AU 8 11403941 11403942 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 11403941 11403942 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 11404207 11404207 single base substitution C T intron_variant MELA-AU 8 11404207 11404207 single base substitution C T upstream_gene_variant MELA-AU 8 11404576 11404576 single base substitution C T intron_variant MELA-AU 8 11404576 11404576 single base substitution C T upstream_gene_variant MELA-AU 8 11404639 11404639 single base substitution C T intron_variant MELA-AU 8 11404639 11404639 single base substitution C T upstream_gene_variant MELA-AU 8 11404650 11404650 single base substitution G A intron_variant MELA-AU 8 11404650 11404650 single base substitution G A upstream_gene_variant MELA-AU 8 11405012 11405012 single base substitution C T intron_variant MELA-AU 8 11405012 11405012 single base substitution C T upstream_gene_variant MELA-AU 8 11405325 11405325 single base substitution C T intron_variant MELA-AU 8 11405325 11405325 single base substitution C T upstream_gene_variant MELA-AU 8 11405342 11405342 single base substitution G A intron_variant MELA-AU 8 11405342 11405342 single base substitution G A upstream_gene_variant MELA-AU 8 11405365 11405365 single base substitution G A intron_variant MELA-AU 8 11405365 11405365 single base substitution G A upstream_gene_variant MELA-AU 8 11405526 11405526 single base substitution C T intron_variant MELA-AU 8 11405526 11405526 single base substitution C T upstream_gene_variant MELA-AU 8 11405633 11405633 single base substitution G A missense_variant G19R 55G>A MELA-AU 8 11405633 11405633 single base substitution G A missense_variant G90R 268G>A MELA-AU 8 11405633 11405633 single base substitution G A splice_region_variant MELA-AU 8 11405633 11405633 single base substitution G A upstream_gene_variant MELA-AU 8 11405726 11405726 single base substitution C T intron_variant MELA-AU 8 11405726 11405726 single base substitution C T upstream_gene_variant MELA-AU 8 11405830 11405830 single base substitution C T intron_variant MELA-AU 8 11405830 11405830 single base substitution C T upstream_gene_variant MELA-AU 8 11405941 11405941 single base substitution C T intron_variant MELA-AU 8 11405941 11405941 single base substitution C T upstream_gene_variant MELA-AU 8 11406027 11406027 single base substitution A G intron_variant MELA-AU 8 11406027 11406027 single base substitution A G upstream_gene_variant MELA-AU 8 11406053 11406053 single base substitution C T intron_variant MELA-AU 8 11406053 11406053 single base substitution C T upstream_gene_variant MELA-AU 8 11406136 11406136 single base substitution G A intron_variant MELA-AU 8 11406136 11406136 single base substitution G A upstream_gene_variant MELA-AU 8 11406248 11406248 single base substitution C T intron_variant MELA-AU 8 11406248 11406248 single base substitution C T upstream_gene_variant MELA-AU 8 11406329 11406329 single base substitution G A intron_variant MELA-AU 8 11406329 11406329 single base substitution G A upstream_gene_variant MELA-AU 8 11406443 11406443 single base substitution G A intron_variant MELA-AU 8 11406443 11406443 single base substitution G A upstream_gene_variant MELA-AU 8 11406459 11406459 single base substitution G A intron_variant MELA-AU 8 11406459 11406459 single base substitution G A upstream_gene_variant MELA-AU 8 11406519 11406519 single base substitution C T intron_variant MELA-AU 8 11406519 11406519 single base substitution C T upstream_gene_variant MELA-AU 8 11406605 11406606 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 8 11406605 11406606 multiple base substitution (>=2bp and <=200bp) CC TT stop_gained AR114A* MELA-AU 8 11406605 11406606 multiple base substitution (>=2bp and <=200bp) CC TT stop_gained AR43A* MELA-AU 8 11406605 11406606 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 11406608 11406608 single base substitution A G exon_variant MELA-AU 8 11406608 11406608 single base substitution A G synonymous_variant R115R 345A>G MELA-AU 8 11406608 11406608 single base substitution A G synonymous_variant R44R 132A>G MELA-AU 8 11406608 11406608 single base substitution A G upstream_gene_variant MELA-AU 8 11406993 11406993 single base substitution G A downstream_gene_variant MELA-AU 8 11406993 11406993 single base substitution G A intron_variant MELA-AU 8 11406993 11406993 single base substitution G A upstream_gene_variant MELA-AU 8 11407021 11407021 single base substitution G A downstream_gene_variant MELA-AU 8 11407021 11407021 single base substitution G A intron_variant MELA-AU 8 11407021 11407021 single base substitution G A upstream_gene_variant MELA-AU 8 11407078 11407079 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 8 11407078 11407079 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 8 11407078 11407079 multiple base substitution (>=2bp and <=200bp) CC GT upstream_gene_variant MELA-AU 8 11407090 11407090 single base substitution G A downstream_gene_variant MELA-AU 8 11407090 11407090 single base substitution G A intron_variant MELA-AU 8 11407090 11407090 single base substitution G A upstream_gene_variant MELA-AU 8 11407623 11407623 single base substitution G A downstream_gene_variant MELA-AU 8 11407623 11407623 single base substitution G A exon_variant MELA-AU 8 11407623 11407623 single base substitution G A intron_variant MELA-AU 8 11408040 11408040 single base substitution C T downstream_gene_variant MELA-AU 8 11408040 11408040 single base substitution C T intron_variant MELA-AU 8 11408053 11408053 single base substitution G A downstream_gene_variant MELA-AU 8 11408053 11408053 single base substitution G A intron_variant MELA-AU 8 11408063 11408063 single base substitution G A downstream_gene_variant MELA-AU 8 11408063 11408063 single base substitution G A intron_variant MELA-AU 8 11408104 11408104 single base substitution C T downstream_gene_variant MELA-AU 8 11408104 11408104 single base substitution C T intron_variant MELA-AU 8 11408501 11408501 single base substitution C T downstream_gene_variant MELA-AU 8 11408501 11408501 single base substitution C T intron_variant MELA-AU 8 11408512 11408512 single base substitution C T downstream_gene_variant MELA-AU 8 11408512 11408512 single base substitution C T intron_variant MELA-AU 8 11408561 11408561 single base substitution G C downstream_gene_variant MELA-AU 8 11408561 11408561 single base substitution G C intron_variant MELA-AU 8 11409232 11409232 single base substitution C T downstream_gene_variant MELA-AU 8 11409232 11409232 single base substitution C T intron_variant MELA-AU 8 11409314 11409314 single base substitution G A downstream_gene_variant MELA-AU 8 11409314 11409314 single base substitution G A intron_variant MELA-AU 8 11409629 11409629 single base substitution G A downstream_gene_variant MELA-AU 8 11409629 11409629 single base substitution G A intron_variant MELA-AU 8 11409664 11409664 single base substitution C T downstream_gene_variant MELA-AU 8 11409664 11409664 single base substitution C T intron_variant MELA-AU 8 11409847 11409847 single base substitution G A downstream_gene_variant MELA-AU 8 11409847 11409847 single base substitution G A intron_variant MELA-AU 8 11409899 11409899 single base substitution G A downstream_gene_variant MELA-AU 8 11409899 11409899 single base substitution G A intron_variant MELA-AU 8 11410248 11410248 single base substitution C T downstream_gene_variant MELA-AU 8 11410248 11410248 single base substitution C T intron_variant MELA-AU 8 11410723 11410723 single base substitution G A downstream_gene_variant MELA-AU 8 11410723 11410723 single base substitution G A intron_variant MELA-AU 8 11410728 11410728 single base substitution C T downstream_gene_variant MELA-AU 8 11410728 11410728 single base substitution C T intron_variant MELA-AU 8 11410804 11410804 single base substitution C T downstream_gene_variant MELA-AU 8 11410804 11410804 single base substitution C T intron_variant MELA-AU 8 11410972 11410972 single base substitution G A downstream_gene_variant MELA-AU 8 11410972 11410972 single base substitution G A intron_variant MELA-AU 8 11411275 11411275 single base substitution C G downstream_gene_variant MELA-AU 8 11411275 11411275 single base substitution C G intron_variant MELA-AU 8 11411895 11411895 single base substitution G A intron_variant MELA-AU 8 11411917 11411917 single base substitution C T intron_variant MELA-AU 8 11412226 11412226 single base substitution C T intron_variant MELA-AU 8 11412262 11412262 single base substitution C T exon_variant MELA-AU 8 11412262 11412262 single base substitution C T synonymous_variant S161S 483C>T MELA-AU 8 11412262 11412262 single base substitution C T synonymous_variant S90S 270C>T MELA-AU 8 11412641 11412641 single base substitution G A intron_variant MELA-AU 8 11412676 11412676 single base substitution G A intron_variant MELA-AU 8 11412817 11412817 single base substitution C T intron_variant MELA-AU 8 11412886 11412886 single base substitution G A exon_variant MELA-AU 8 11412886 11412886 single base substitution G A missense_variant R151H 452G>A MELA-AU 8 11412886 11412886 single base substitution G A missense_variant R222H 665G>A MELA-AU 8 11412886 11412886 single base substitution G A upstream_gene_variant MELA-AU 8 11413186 11413186 single base substitution C T intron_variant MELA-AU 8 11413186 11413186 single base substitution C T upstream_gene_variant MELA-AU 8 11413320 11413320 single base substitution C T intron_variant MELA-AU 8 11413320 11413320 single base substitution C T upstream_gene_variant MELA-AU 8 11413329 11413330 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 11413329 11413330 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 11413342 11413342 single base substitution T A intron_variant MELA-AU 8 11413342 11413342 single base substitution T A upstream_gene_variant MELA-AU 8 11413477 11413477 single base substitution C T intron_variant MELA-AU 8 11413477 11413477 single base substitution C T upstream_gene_variant MELA-AU 8 11413689 11413689 single base substitution G A intron_variant MELA-AU 8 11413689 11413689 single base substitution G A upstream_gene_variant MELA-AU 8 11413763 11413763 single base substitution G A intron_variant MELA-AU 8 11413763 11413763 single base substitution G A upstream_gene_variant MELA-AU 8 11413899 11413899 single base substitution G A intron_variant MELA-AU 8 11413899 11413899 single base substitution G A upstream_gene_variant MELA-AU 8 11413922 11413922 single base substitution G A intron_variant MELA-AU 8 11413922 11413922 single base substitution G A upstream_gene_variant MELA-AU 8 11414065 11414065 single base substitution G A intron_variant MELA-AU 8 11414065 11414065 single base substitution G A upstream_gene_variant MELA-AU 8 11414092 11414092 single base substitution C T intron_variant MELA-AU 8 11414092 11414092 single base substitution C T upstream_gene_variant MELA-AU 8 11414093 11414093 single base substitution C T intron_variant MELA-AU 8 11414093 11414093 single base substitution C T upstream_gene_variant MELA-AU 8 11414094 11414094 single base substitution G A intron_variant MELA-AU 8 11414094 11414094 single base substitution G A upstream_gene_variant MELA-AU 8 11414444 11414444 single base substitution G A downstream_gene_variant MELA-AU 8 11414444 11414444 single base substitution G A intron_variant MELA-AU 8 11414444 11414444 single base substitution G A upstream_gene_variant MELA-AU 8 11414518 11414518 single base substitution G A downstream_gene_variant MELA-AU 8 11414518 11414518 single base substitution G A intron_variant MELA-AU 8 11414518 11414518 single base substitution G A upstream_gene_variant MELA-AU 8 11414638 11414638 single base substitution G A downstream_gene_variant MELA-AU 8 11414638 11414638 single base substitution G A intron_variant MELA-AU 8 11414638 11414638 single base substitution G A upstream_gene_variant MELA-AU 8 11414662 11414662 single base substitution G A downstream_gene_variant MELA-AU 8 11414662 11414662 single base substitution G A intron_variant MELA-AU 8 11414662 11414662 single base substitution G A upstream_gene_variant MELA-AU 8 11415091 11415091 single base substitution G A downstream_gene_variant MELA-AU 8 11415091 11415091 single base substitution G A intron_variant MELA-AU 8 11415091 11415091 single base substitution G A upstream_gene_variant MELA-AU 8 11415169 11415169 single base substitution A G downstream_gene_variant MELA-AU 8 11415169 11415169 single base substitution A G intron_variant MELA-AU 8 11415169 11415169 single base substitution A G upstream_gene_variant MELA-AU 8 11415179 11415179 single base substitution C A downstream_gene_variant MELA-AU 8 11415179 11415179 single base substitution C A intron_variant MELA-AU 8 11415179 11415179 single base substitution C A upstream_gene_variant MELA-AU 8 11416040 11416040 single base substitution G A downstream_gene_variant MELA-AU 8 11416040 11416040 single base substitution G A intron_variant MELA-AU 8 11416040 11416040 single base substitution G A upstream_gene_variant MELA-AU 8 11416961 11416961 single base substitution C G downstream_gene_variant MELA-AU 8 11416961 11416961 single base substitution C G intron_variant MELA-AU 8 11416961 11416961 single base substitution C G upstream_gene_variant MELA-AU 8 11417377 11417377 single base substitution C T downstream_gene_variant MELA-AU 8 11417377 11417377 single base substitution C T intron_variant MELA-AU 8 11417377 11417377 single base substitution C T upstream_gene_variant MELA-AU 8 11417426 11417426 single base substitution G A downstream_gene_variant MELA-AU 8 11417426 11417426 single base substitution G A intron_variant MELA-AU 8 11417426 11417426 single base substitution G A upstream_gene_variant MELA-AU 8 11417823 11417823 single base substitution C T downstream_gene_variant MELA-AU 8 11417823 11417823 single base substitution C T intron_variant MELA-AU 8 11417823 11417823 single base substitution C T upstream_gene_variant MELA-AU 8 11417930 11417930 single base substitution G A downstream_gene_variant MELA-AU 8 11417930 11417930 single base substitution G A exon_variant MELA-AU 8 11417930 11417930 single base substitution G A intron_variant MELA-AU 8 11418156 11418156 single base substitution G A downstream_gene_variant MELA-AU 8 11418156 11418156 single base substitution G A exon_variant MELA-AU 8 11418156 11418156 single base substitution G A intron_variant MELA-AU 8 11418334 11418334 single base substitution G A downstream_gene_variant MELA-AU 8 11418334 11418334 single base substitution G A exon_variant MELA-AU 8 11418334 11418334 single base substitution G A intron_variant MELA-AU 8 11418492 11418492 single base substitution C T downstream_gene_variant MELA-AU 8 11418492 11418492 single base substitution C T exon_variant MELA-AU 8 11418492 11418492 single base substitution C T intron_variant MELA-AU 8 11418649 11418649 single base substitution G A downstream_gene_variant MELA-AU 8 11418649 11418649 single base substitution G A exon_variant MELA-AU 8 11418649 11418649 single base substitution G A intron_variant MELA-AU 8 11418804 11418804 single base substitution C T downstream_gene_variant MELA-AU 8 11418804 11418804 single base substitution C T exon_variant MELA-AU 8 11418804 11418804 single base substitution C T splice_region_variant MELA-AU 8 11418817 11418817 single base substitution G A downstream_gene_variant MELA-AU 8 11418817 11418817 single base substitution G A exon_variant MELA-AU 8 11418817 11418817 single base substitution G A missense_variant E275K 823G>A MELA-AU 8 11418817 11418817 single base substitution G A missense_variant E346K 1036G>A MELA-AU 8 11418929 11418929 single base substitution G A downstream_gene_variant MELA-AU 8 11418929 11418929 single base substitution G A exon_variant MELA-AU 8 11418929 11418929 single base substitution G A missense_variant R312Q 935G>A MELA-AU 8 11418929 11418929 single base substitution G A missense_variant R383Q 1148G>A MELA-AU 8 11419038 11419038 single base substitution C T downstream_gene_variant MELA-AU 8 11419038 11419038 single base substitution C T intron_variant MELA-AU 8 11419935 11419935 single base substitution G A intron_variant MELA-AU 8 11420359 11420359 single base substitution C T intron_variant MELA-AU 8 11420850 11420850 single base substitution A G intron_variant MELA-AU 8 11420973 11420973 single base substitution C T intron_variant MELA-AU 8 11421044 11421044 single base substitution G A intron_variant MELA-AU 8 11421368 11421368 single base substitution G A intron_variant MELA-AU 8 11421738 11421738 single base substitution C T 3_prime_UTR_variant MELA-AU 8 11421738 11421738 single base substitution C T exon_variant MELA-AU 8 11422115 11422115 single base substitution C T downstream_gene_variant MELA-AU 8 11422260 11422260 single base substitution G A downstream_gene_variant MELA-AU 8 11422401 11422401 single base substitution T G downstream_gene_variant MELA-AU 8 11422927 11422927 single base substitution G A downstream_gene_variant MELA-AU 8 11423010 11423010 single base substitution G A downstream_gene_variant MELA-AU 8 11423141 11423141 single base substitution G A downstream_gene_variant MELA-AU 8 11423168 11423168 single base substitution G A downstream_gene_variant MELA-AU 8 11423287 11423287 single base substitution C T downstream_gene_variant MELA-AU 8 11423396 11423396 single base substitution G T downstream_gene_variant MELA-AU 8 11423416 11423416 single base substitution C T downstream_gene_variant MELA-AU 8 11423431 11423431 single base substitution G A downstream_gene_variant MELA-AU 8 11423645 11423645 single base substitution G A downstream_gene_variant MELA-AU 8 11423717 11423717 single base substitution C T downstream_gene_variant MELA-AU 8 11423941 11423941 single base substitution G A downstream_gene_variant MELA-AU 8 11424137 11424137 single base substitution G A downstream_gene_variant MELA-AU 8 11424429 11424429 single base substitution G A downstream_gene_variant MELA-AU 8 11424470 11424470 single base substitution C T downstream_gene_variant MELA-AU 8 11424684 11424684 single base substitution G A downstream_gene_variant MELA-AU 8 11424734 11424734 single base substitution G A downstream_gene_variant MELA-AU 8 11424761 11424761 single base substitution G A downstream_gene_variant MELA-AU 8 11425085 11425085 single base substitution C T downstream_gene_variant MELA-AU 8 11425611 11425611 single base substitution G A downstream_gene_variant MELA-AU 8 11425723 11425723 single base substitution C T downstream_gene_variant MELA-AU 8 11425763 11425763 single base substitution G A downstream_gene_variant MELA-AU 8 11426090 11426090 single base substitution C T downstream_gene_variant MELA-AU 8 11426190 11426190 single base substitution G A downstream_gene_variant MELA-AU 8 11426198 11426198 single base substitution G A downstream_gene_variant MELA-AU 8 11426211 11426211 single base substitution A T downstream_gene_variant MELA-AU 8 11426335 11426335 single base substitution G A downstream_gene_variant MELA-AU 8 11426385 11426385 single base substitution C T downstream_gene_variant MELA-AU 8 11426500 11426500 single base substitution G A downstream_gene_variant MELA-AU 8 11426954 11426954 single base substitution T C downstream_gene_variant MELA-AU 8 11427091 11427091 single base substitution G A downstream_gene_variant ORCA-IN 8 11377935 11377935 single base substitution G C intron_variant ORCA-IN 8 11400819 11400819 single base substitution G A intron_variant ORCA-IN 8 11400819 11400819 single base substitution G A missense_variant S29N 86G>A ORCA-IN 8 11400819 11400819 single base substitution G A upstream_gene_variant ORCA-IN 8 11402770 11402770 single base substitution T C intron_variant ORCA-IN 8 11402770 11402770 single base substitution T C upstream_gene_variant OV-AU 8 11350723 11350723 single base substitution G A upstream_gene_variant OV-AU 8 11351100 11351100 single base substitution G A upstream_gene_variant OV-AU 8 11361879 11361879 single base substitution A G intron_variant OV-AU 8 11369809 11369809 single base substitution G T downstream_gene_variant OV-AU 8 11369809 11369809 single base substitution G T intron_variant OV-AU 8 11372857 11372857 single base substitution C T intron_variant OV-AU 8 11373685 11373685 single base substitution T C intron_variant OV-AU 8 11374531 11374531 single base substitution G C intron_variant OV-AU 8 11377658 11377658 single base substitution G A intron_variant OV-AU 8 11384498 11384498 single base substitution G T intron_variant OV-AU 8 11387482 11387482 single base substitution G C intron_variant OV-AU 8 11395645 11395645 single base substitution A G intron_variant OV-AU 8 11396249 11396249 single base substitution C T intron_variant OV-AU 8 11397011 11397011 single base substitution T A intron_variant OV-AU 8 11397012 11397012 single base substitution C T intron_variant OV-AU 8 11399736 11399736 single base substitution T C intron_variant OV-AU 8 11399736 11399736 single base substitution T C upstream_gene_variant OV-AU 8 11400198 11400198 single base substitution G A intron_variant OV-AU 8 11400198 11400198 single base substitution G A upstream_gene_variant OV-AU 8 11400341 11400341 single base substitution A C intron_variant OV-AU 8 11400341 11400341 single base substitution A C upstream_gene_variant OV-AU 8 11403479 11403479 single base substitution G T exon_variant OV-AU 8 11403479 11403479 single base substitution G T intron_variant OV-AU 8 11403479 11403479 single base substitution G T upstream_gene_variant OV-AU 8 11404336 11404336 single base substitution C A intron_variant OV-AU 8 11404336 11404336 single base substitution C A upstream_gene_variant OV-AU 8 11408351 11408351 single base substitution T C downstream_gene_variant OV-AU 8 11408351 11408351 single base substitution T C intron_variant OV-AU 8 11409035 11409035 single base substitution G T downstream_gene_variant OV-AU 8 11409035 11409035 single base substitution G T intron_variant OV-AU 8 11410884 11410884 single base substitution G A downstream_gene_variant OV-AU 8 11410884 11410884 single base substitution G A intron_variant OV-AU 8 11413595 11413595 single base substitution G T intron_variant OV-AU 8 11413595 11413595 single base substitution G T upstream_gene_variant OV-AU 8 11418413 11418413 single base substitution G C downstream_gene_variant OV-AU 8 11418413 11418413 single base substitution G C exon_variant OV-AU 8 11418413 11418413 single base substitution G C intron_variant OV-AU 8 11421866 11421866 single base substitution T C 3_prime_UTR_variant OV-AU 8 11421866 11421866 single base substitution T C exon_variant OV-AU 8 11423057 11423057 single base substitution A C downstream_gene_variant OV-AU 8 11423939 11423939 single base substitution C A downstream_gene_variant OV-AU 8 11425397 11425397 single base substitution T C downstream_gene_variant OV-AU 8 11426842 11426842 single base substitution G A downstream_gene_variant PACA-AU 8 11353365 11353365 single base substitution G A intron_variant PACA-AU 8 11355193 11355193 single base substitution G A intron_variant PACA-AU 8 11362102 11362102 single base substitution C T intron_variant PACA-AU 8 11363574 11363574 single base substitution T G intron_variant PACA-AU 8 11365489 11365489 single base substitution G A intron_variant PACA-AU 8 11366412 11366412 single base substitution T C intron_variant PACA-AU 8 11368284 11368284 insertion of <=200bp - AAAT downstream_gene_variant PACA-AU 8 11368284 11368284 insertion of <=200bp - AAAT intron_variant PACA-AU 8 11369708 11369708 single base substitution A G downstream_gene_variant PACA-AU 8 11369708 11369708 single base substitution A G intron_variant PACA-AU 8 11372750 11372750 single base substitution G A intron_variant PACA-AU 8 11373926 11373926 single base substitution G T intron_variant PACA-AU 8 11375354 11375354 single base substitution C A intron_variant PACA-AU 8 11381019 11381019 single base substitution G A intron_variant PACA-AU 8 11382099 11382099 single base substitution T C intron_variant PACA-AU 8 11382900 11382900 single base substitution T G intron_variant PACA-AU 8 11389194 11389194 single base substitution C T intron_variant PACA-AU 8 11392225 11392225 single base substitution C T intron_variant PACA-AU 8 11393398 11393398 single base substitution C T intron_variant PACA-AU 8 11413004 11413004 single base substitution G A intron_variant PACA-AU 8 11413004 11413004 single base substitution G A upstream_gene_variant PACA-AU 8 11414203 11414203 single base substitution C T exon_variant PACA-AU 8 11414203 11414203 single base substitution C T missense_variant T199M 596C>T PACA-AU 8 11414203 11414203 single base substitution C T missense_variant T270M 809C>T PACA-AU 8 11414203 11414203 single base substitution C T upstream_gene_variant PACA-AU 8 11417210 11417210 single base substitution C T downstream_gene_variant PACA-AU 8 11417210 11417210 single base substitution C T intron_variant PACA-AU 8 11417210 11417210 single base substitution C T upstream_gene_variant PACA-AU 8 11420995 11420995 single base substitution C T intron_variant PACA-AU 8 11421209 11421209 single base substitution G T intron_variant PACA-CA 8 11349654 11349654 single base substitution C A upstream_gene_variant PACA-CA 8 11350960 11350960 single base substitution G T upstream_gene_variant PACA-CA 8 11353479 11353479 single base substitution T A intron_variant PACA-CA 8 11354238 11354238 single base substitution G A intron_variant PACA-CA 8 11355086 11355086 single base substitution C T intron_variant PACA-CA 8 11362052 11362052 single base substitution G A intron_variant PACA-CA 8 11365785 11365785 single base substitution G A intron_variant PACA-CA 8 11366401 11366401 single base substitution G A intron_variant PACA-CA 8 11367123 11367123 single base substitution G A exon_variant PACA-CA 8 11367123 11367123 single base substitution G A intron_variant PACA-CA 8 11367315 11367315 single base substitution A G exon_variant PACA-CA 8 11367315 11367315 single base substitution A G intron_variant PACA-CA 8 11368321 11368321 single base substitution A C downstream_gene_variant PACA-CA 8 11368321 11368321 single base substitution A C intron_variant PACA-CA 8 11370467 11370467 single base substitution C T downstream_gene_variant PACA-CA 8 11370467 11370467 single base substitution C T intron_variant PACA-CA 8 11371424 11371424 single base substitution C T downstream_gene_variant PACA-CA 8 11371424 11371424 single base substitution C T intron_variant PACA-CA 8 11374107 11374107 single base substitution C T intron_variant PACA-CA 8 11376128 11376128 single base substitution T C intron_variant PACA-CA 8 11376480 11376480 single base substitution C T intron_variant PACA-CA 8 11378784 11378784 single base substitution C A intron_variant PACA-CA 8 11379276 11379276 single base substitution G A intron_variant PACA-CA 8 11379380 11379380 deletion of <=200bp T - intron_variant PACA-CA 8 11380892 11380892 single base substitution G A intron_variant PACA-CA 8 11381697 11381697 single base substitution A T intron_variant PACA-CA 8 11384625 11384625 single base substitution C A intron_variant PACA-CA 8 11385381 11385381 single base substitution T G intron_variant PACA-CA 8 11389619 11389619 single base substitution C T intron_variant PACA-CA 8 11393362 11393362 single base substitution C T intron_variant PACA-CA 8 11397073 11397073 single base substitution A C intron_variant PACA-CA 8 11397086 11397086 single base substitution T A intron_variant PACA-CA 8 11399910 11399910 single base substitution A G intron_variant PACA-CA 8 11399910 11399910 single base substitution A G upstream_gene_variant PACA-CA 8 11406891 11406891 single base substitution C T downstream_gene_variant PACA-CA 8 11406891 11406891 single base substitution C T intron_variant PACA-CA 8 11406891 11406891 single base substitution C T upstream_gene_variant PACA-CA 8 11408060 11408060 single base substitution G C downstream_gene_variant PACA-CA 8 11408060 11408060 single base substitution G C intron_variant PACA-CA 8 11409233 11409233 single base substitution G A downstream_gene_variant PACA-CA 8 11409233 11409233 single base substitution G A intron_variant PACA-CA 8 11409289 11409289 single base substitution C G downstream_gene_variant PACA-CA 8 11409289 11409289 single base substitution C G intron_variant PACA-CA 8 11409500 11409500 single base substitution A G downstream_gene_variant PACA-CA 8 11409500 11409500 single base substitution A G intron_variant PACA-CA 8 11414160 11414160 single base substitution G A intron_variant PACA-CA 8 11414160 11414160 single base substitution G A splice_region_variant PACA-CA 8 11414160 11414160 single base substitution G A upstream_gene_variant PACA-CA 8 11414367 11414367 single base substitution G T downstream_gene_variant PACA-CA 8 11414367 11414367 single base substitution G T intron_variant PACA-CA 8 11414367 11414367 single base substitution G T upstream_gene_variant PACA-CA 8 11414772 11414772 single base substitution G C downstream_gene_variant PACA-CA 8 11414772 11414772 single base substitution G C intron_variant PACA-CA 8 11414772 11414772 single base substitution G C upstream_gene_variant PACA-CA 8 11416438 11416438 single base substitution G T downstream_gene_variant PACA-CA 8 11416438 11416438 single base substitution G T intron_variant PACA-CA 8 11416438 11416438 single base substitution G T upstream_gene_variant PACA-CA 8 11419712 11419712 single base substitution A T intron_variant PACA-CA 8 11420332 11420332 single base substitution C T intron_variant PACA-CA 8 11420556 11420556 single base substitution G T exon_variant PACA-CA 8 11420556 11420556 single base substitution G T missense_variant D346Y 1036G>T PACA-CA 8 11420556 11420556 single base substitution G T missense_variant D417Y 1249G>T PACA-CA 8 11426899 11426899 single base substitution A C downstream_gene_variant PAEN-AU 8 11375615 11375615 single base substitution C T intron_variant PAEN-AU 8 11391918 11391918 single base substitution A C intron_variant PAEN-IT 8 11358668 11358668 single base substitution C T intron_variant PAEN-IT 8 11383533 11383533 single base substitution C T intron_variant PAEN-IT 8 11399680 11399680 single base substitution C A intron_variant PAEN-IT 8 11399680 11399680 single base substitution C A upstream_gene_variant PAEN-IT 8 11407758 11407758 single base substitution T A downstream_gene_variant PAEN-IT 8 11407758 11407758 single base substitution T A exon_variant PAEN-IT 8 11407758 11407758 single base substitution T A missense_variant S153R 459T>A PAEN-IT 8 11407758 11407758 single base substitution T A missense_variant S82R 246T>A PBCA-DE 8 11349186 11349186 single base substitution G A upstream_gene_variant PBCA-DE 8 11351507 11351507 single base substitution C T upstream_gene_variant PBCA-DE 8 11357789 11357789 single base substitution G A intron_variant PBCA-DE 8 11390701 11390701 single base substitution C G intron_variant PBCA-DE 8 11391917 11391917 single base substitution C A intron_variant PBCA-DE 8 11392699 11392699 single base substitution A G intron_variant PBCA-DE 8 11393335 11393335 single base substitution C T intron_variant PBCA-DE 8 11409722 11409722 deletion of <=200bp T - downstream_gene_variant PBCA-DE 8 11409722 11409722 deletion of <=200bp T - intron_variant PBCA-DE 8 11413160 11413160 single base substitution C T intron_variant PBCA-DE 8 11413160 11413160 single base substitution C T upstream_gene_variant PBCA-DE 8 11418773 11418773 single base substitution C T downstream_gene_variant PBCA-DE 8 11418773 11418773 single base substitution C T exon_variant PBCA-DE 8 11418773 11418773 single base substitution C T intron_variant PBCA-DE 8 11419795 11419795 single base substitution G T intron_variant PBCA-DE 8 11423141 11423141 single base substitution G A downstream_gene_variant PRAD-CA 8 11361899 11361899 single base substitution A G intron_variant PRAD-CA 8 11361920 11361920 single base substitution G A intron_variant PRAD-CA 8 11391114 11391114 single base substitution A G intron_variant PRAD-CA 8 11392773 11392773 single base substitution G A intron_variant PRAD-CA 8 11392774 11392774 single base substitution A G intron_variant PRAD-UK 8 11357962 11357962 single base substitution C A intron_variant PRAD-UK 8 11359854 11359854 single base substitution C T intron_variant PRAD-UK 8 11363373 11363373 single base substitution C A intron_variant PRAD-UK 8 11365762 11365762 single base substitution T C intron_variant PRAD-UK 8 11378168 11378168 single base substitution G A intron_variant PRAD-UK 8 11391462 11391462 single base substitution G C intron_variant PRAD-UK 8 11393203 11393203 single base substitution C G intron_variant PRAD-UK 8 11418456 11418456 single base substitution C A downstream_gene_variant PRAD-UK 8 11418456 11418456 single base substitution C A exon_variant PRAD-UK 8 11418456 11418456 single base substitution C A intron_variant PRAD-UK 8 11421656 11421656 single base substitution C T 3_prime_UTR_variant PRAD-UK 8 11421656 11421656 single base substitution C T exon_variant PRAD-UK 8 11423091 11423091 single base substitution T C downstream_gene_variant PRAD-US 8 11421593 11421607 deletion of <=200bp GCGGCAGTACGAGCT - exon_variant PRAD-US 8 11421593 11421607 deletion of <=200bp GCGGCAGTACGAGCT - inframe_deletion ERQYEL427E PRAD-US 8 11421593 11421607 deletion of <=200bp GCGGCAGTACGAGCT - inframe_deletion ERQYEL498E READ-US 8 11406588 11406588 single base substitution C T exon_variant READ-US 8 11406588 11406588 single base substitution C T missense_variant P109S 325C>T READ-US 8 11406588 11406588 single base substitution C T missense_variant P38S 112C>T READ-US 8 11406588 11406588 single base substitution C T upstream_gene_variant RECA-EU 8 11347439 11347439 single base substitution A T upstream_gene_variant RECA-EU 8 11349415 11349415 single base substitution G A upstream_gene_variant RECA-EU 8 11349459 11349459 single base substitution A T upstream_gene_variant RECA-EU 8 11360885 11360885 single base substitution T A intron_variant RECA-EU 8 11370238 11370238 single base substitution T G downstream_gene_variant RECA-EU 8 11370238 11370238 single base substitution T G intron_variant RECA-EU 8 11375836 11375836 single base substitution T A intron_variant RECA-EU 8 11381240 11381240 single base substitution T A intron_variant RECA-EU 8 11381241 11381241 single base substitution C T intron_variant RECA-EU 8 11388379 11388379 single base substitution T A intron_variant RECA-EU 8 11394015 11394015 single base substitution T A intron_variant RECA-EU 8 11401360 11401360 single base substitution A T intron_variant RECA-EU 8 11401360 11401360 single base substitution A T upstream_gene_variant RECA-EU 8 11404463 11404463 single base substitution C T intron_variant RECA-EU 8 11404463 11404463 single base substitution C T upstream_gene_variant RECA-EU 8 11412938 11412938 single base substitution G T exon_variant RECA-EU 8 11412938 11412938 single base substitution G T missense_variant Q168H 504G>T RECA-EU 8 11412938 11412938 single base substitution G T missense_variant Q239H 717G>T RECA-EU 8 11412938 11412938 single base substitution G T upstream_gene_variant RECA-EU 8 11417459 11417459 single base substitution A T downstream_gene_variant RECA-EU 8 11417459 11417459 single base substitution A T intron_variant RECA-EU 8 11417459 11417459 single base substitution A T upstream_gene_variant RECA-EU 8 11420275 11420275 single base substitution G A intron_variant SKCA-BR 8 11346869 11346869 single base substitution C T upstream_gene_variant SKCA-BR 8 11347810 11347810 single base substitution C T upstream_gene_variant SKCA-BR 8 11348406 11348406 single base substitution C T upstream_gene_variant SKCA-BR 8 11348653 11348653 single base substitution C T upstream_gene_variant SKCA-BR 8 11350566 11350566 single base substitution G A upstream_gene_variant SKCA-BR 8 11352568 11352568 single base substitution G A intron_variant SKCA-BR 8 11354878 11354878 single base substitution C T intron_variant SKCA-BR 8 11355429 11355429 single base substitution G A intron_variant SKCA-BR 8 11358115 11358115 single base substitution C T intron_variant SKCA-BR 8 11358615 11358615 single base substitution G A intron_variant SKCA-BR 8 11361206 11361206 single base substitution C T intron_variant SKCA-BR 8 11361872 11361891 deletion of <=200bp GGAAGAAAGAAAAGAAAAGA - intron_variant SKCA-BR 8 11361876 11361881 deletion of <=200bp GAAAGA - intron_variant SKCA-BR 8 11363507 11363507 single base substitution C T intron_variant SKCA-BR 8 11365678 11365678 single base substitution A C intron_variant SKCA-BR 8 11369060 11369060 single base substitution C T downstream_gene_variant SKCA-BR 8 11369060 11369060 single base substitution C T intron_variant SKCA-BR 8 11369753 11369753 single base substitution G A downstream_gene_variant SKCA-BR 8 11369753 11369753 single base substitution G A intron_variant SKCA-BR 8 11369811 11369811 single base substitution T A downstream_gene_variant SKCA-BR 8 11369811 11369811 single base substitution T A intron_variant SKCA-BR 8 11370736 11370736 single base substitution G A downstream_gene_variant SKCA-BR 8 11370736 11370736 single base substitution G A intron_variant SKCA-BR 8 11371681 11371681 single base substitution C T downstream_gene_variant SKCA-BR 8 11371681 11371681 single base substitution C T intron_variant SKCA-BR 8 11372129 11372129 single base substitution C T downstream_gene_variant SKCA-BR 8 11372129 11372129 single base substitution C T intron_variant SKCA-BR 8 11372690 11372690 single base substitution C T intron_variant SKCA-BR 8 11373477 11373477 single base substitution G A intron_variant SKCA-BR 8 11374164 11374164 single base substitution G A intron_variant SKCA-BR 8 11374389 11374389 single base substitution G A intron_variant SKCA-BR 8 11374964 11374964 single base substitution A C intron_variant SKCA-BR 8 11374985 11374985 single base substitution C T intron_variant SKCA-BR 8 11375136 11375136 single base substitution G A intron_variant SKCA-BR 8 11375186 11375186 single base substitution G A intron_variant SKCA-BR 8 11375832 11375832 single base substitution C T intron_variant SKCA-BR 8 11375979 11375979 single base substitution G A intron_variant SKCA-BR 8 11376987 11376987 single base substitution G A intron_variant SKCA-BR 8 11377869 11377869 single base substitution C T intron_variant SKCA-BR 8 11378259 11378259 single base substitution G A intron_variant SKCA-BR 8 11379938 11379938 single base substitution G A intron_variant SKCA-BR 8 11382111 11382111 single base substitution C T intron_variant SKCA-BR 8 11382656 11382656 single base substitution C T intron_variant SKCA-BR 8 11385818 11385818 single base substitution T C intron_variant SKCA-BR 8 11386081 11386081 single base substitution A T intron_variant SKCA-BR 8 11388150 11388150 single base substitution G A intron_variant SKCA-BR 8 11388399 11388399 single base substitution G A intron_variant SKCA-BR 8 11388617 11388617 single base substitution C T intron_variant SKCA-BR 8 11389109 11389109 single base substitution G A intron_variant SKCA-BR 8 11389980 11389980 single base substitution A G intron_variant SKCA-BR 8 11390343 11390343 single base substitution C T intron_variant SKCA-BR 8 11390951 11390951 single base substitution C T intron_variant SKCA-BR 8 11392707 11392707 insertion of <=200bp - GGAAA intron_variant SKCA-BR 8 11392726 11392726 single base substitution G A intron_variant SKCA-BR 8 11392809 11392809 insertion of <=200bp - GAAAA intron_variant SKCA-BR 8 11392827 11392833 deletion of <=200bp AAGAAAG - intron_variant SKCA-BR 8 11393368 11393368 single base substitution G A intron_variant SKCA-BR 8 11393729 11393729 single base substitution G A intron_variant SKCA-BR 8 11396051 11396051 single base substitution C T intron_variant SKCA-BR 8 11396614 11396614 single base substitution C T intron_variant SKCA-BR 8 11397583 11397583 single base substitution C T intron_variant SKCA-BR 8 11397626 11397626 single base substitution C T intron_variant SKCA-BR 8 11397748 11397748 single base substitution C T intron_variant SKCA-BR 8 11398347 11398347 single base substitution G A intron_variant SKCA-BR 8 11398347 11398347 single base substitution G A upstream_gene_variant SKCA-BR 8 11399149 11399149 single base substitution G A intron_variant SKCA-BR 8 11399149 11399149 single base substitution G A upstream_gene_variant SKCA-BR 8 11399326 11399326 single base substitution C T intron_variant SKCA-BR 8 11399326 11399326 single base substitution C T upstream_gene_variant SKCA-BR 8 11402554 11402554 single base substitution G A intron_variant SKCA-BR 8 11402554 11402554 single base substitution G A upstream_gene_variant SKCA-BR 8 11403594 11403594 single base substitution G A 5_prime_UTR_variant SKCA-BR 8 11403594 11403594 single base substitution G A exon_variant SKCA-BR 8 11403594 11403594 single base substitution G A missense_variant D53N 157G>A SKCA-BR 8 11403594 11403594 single base substitution G A upstream_gene_variant SKCA-BR 8 11403656 11403656 single base substitution C T intron_variant SKCA-BR 8 11403656 11403656 single base substitution C T upstream_gene_variant SKCA-BR 8 11404511 11404511 single base substitution C A intron_variant SKCA-BR 8 11404511 11404511 single base substitution C A upstream_gene_variant SKCA-BR 8 11404693 11404693 single base substitution C G intron_variant SKCA-BR 8 11404693 11404693 single base substitution C G upstream_gene_variant SKCA-BR 8 11404848 11404848 single base substitution G A intron_variant SKCA-BR 8 11404848 11404848 single base substitution G A upstream_gene_variant SKCA-BR 8 11406627 11406627 single base substitution G A downstream_gene_variant SKCA-BR 8 11406627 11406627 single base substitution G A missense_variant E122K 364G>A SKCA-BR 8 11406627 11406627 single base substitution G A missense_variant E51K 151G>A SKCA-BR 8 11406627 11406627 single base substitution G A upstream_gene_variant SKCA-BR 8 11407811 11407811 single base substitution C T downstream_gene_variant SKCA-BR 8 11407811 11407811 single base substitution C T intron_variant SKCA-BR 8 11408262 11408262 single base substitution T C downstream_gene_variant SKCA-BR 8 11408262 11408262 single base substitution T C intron_variant SKCA-BR 8 11408441 11408441 single base substitution C T downstream_gene_variant SKCA-BR 8 11408441 11408441 single base substitution C T intron_variant SKCA-BR 8 11408989 11408989 single base substitution A G downstream_gene_variant SKCA-BR 8 11408989 11408989 single base substitution A G intron_variant SKCA-BR 8 11408990 11408990 single base substitution G A downstream_gene_variant SKCA-BR 8 11408990 11408990 single base substitution G A intron_variant SKCA-BR 8 11410071 11410071 single base substitution G A downstream_gene_variant SKCA-BR 8 11410071 11410071 single base substitution G A intron_variant SKCA-BR 8 11410140 11410140 single base substitution C T downstream_gene_variant SKCA-BR 8 11410140 11410140 single base substitution C T intron_variant SKCA-BR 8 11410935 11410935 single base substitution C T downstream_gene_variant SKCA-BR 8 11410935 11410935 single base substitution C T intron_variant SKCA-BR 8 11413657 11413657 single base substitution G A intron_variant SKCA-BR 8 11413657 11413657 single base substitution G A upstream_gene_variant SKCA-BR 8 11413726 11413726 single base substitution G A intron_variant SKCA-BR 8 11413726 11413726 single base substitution G A upstream_gene_variant SKCA-BR 8 11414440 11414441 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 8 11414440 11414441 deletion of <=200bp CA - intron_variant SKCA-BR 8 11414440 11414441 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 8 11414634 11414634 single base substitution G A downstream_gene_variant SKCA-BR 8 11414634 11414634 single base substitution G A intron_variant SKCA-BR 8 11414634 11414634 single base substitution G A upstream_gene_variant SKCA-BR 8 11415571 11415571 single base substitution G A downstream_gene_variant SKCA-BR 8 11415571 11415571 single base substitution G A intron_variant SKCA-BR 8 11415571 11415571 single base substitution G A upstream_gene_variant SKCA-BR 8 11416905 11416905 insertion of <=200bp - GACACAC downstream_gene_variant SKCA-BR 8 11416905 11416905 insertion of <=200bp - GACACAC intron_variant SKCA-BR 8 11416905 11416905 insertion of <=200bp - GACACAC upstream_gene_variant SKCA-BR 8 11417018 11417018 single base substitution T A downstream_gene_variant SKCA-BR 8 11417018 11417018 single base substitution T A intron_variant SKCA-BR 8 11417018 11417018 single base substitution T A upstream_gene_variant SKCA-BR 8 11418310 11418310 single base substitution C T downstream_gene_variant SKCA-BR 8 11418310 11418310 single base substitution C T exon_variant SKCA-BR 8 11418310 11418310 single base substitution C T intron_variant SKCA-BR 8 11420342 11420342 single base substitution T C intron_variant SKCA-BR 8 11420435 11420435 single base substitution G A intron_variant SKCA-BR 8 11421944 11421944 single base substitution A C 3_prime_UTR_variant SKCA-BR 8 11421944 11421944 single base substitution A C exon_variant SKCA-BR 8 11421955 11421955 single base substitution T G 3_prime_UTR_variant SKCA-BR 8 11421955 11421955 single base substitution T G exon_variant SKCA-BR 8 11421963 11421963 single base substitution T C 3_prime_UTR_variant SKCA-BR 8 11421963 11421963 single base substitution T C exon_variant SKCA-BR 8 11422394 11422394 single base substitution G A downstream_gene_variant SKCA-BR 8 11423072 11423072 single base substitution A G downstream_gene_variant SKCA-BR 8 11424642 11424642 single base substitution G A downstream_gene_variant SKCM-US 8 11400787 11400787 single base substitution G A intron_variant SKCM-US 8 11400787 11400787 single base substitution G A synonymous_variant K18K 54G>A SKCM-US 8 11400787 11400787 single base substitution G A upstream_gene_variant SKCM-US 8 11400788 11400788 single base substitution G A intron_variant SKCM-US 8 11400788 11400788 single base substitution G A missense_variant D19N 55G>A SKCM-US 8 11400788 11400788 single base substitution G A upstream_gene_variant SKCM-US 8 11400814 11400814 single base substitution G A intron_variant SKCM-US 8 11400814 11400814 single base substitution G A synonymous_variant K27K 81G>A SKCM-US 8 11400814 11400814 single base substitution G A upstream_gene_variant SKCM-US 8 11400840 11400840 single base substitution C T intron_variant SKCM-US 8 11400840 11400840 single base substitution C T missense_variant P36L 107C>T SKCM-US 8 11400840 11400840 single base substitution C T upstream_gene_variant SKCM-US 8 11400850 11400850 single base substitution G C intron_variant SKCM-US 8 11400850 11400850 single base substitution G C synonymous_variant P39P 117G>C SKCM-US 8 11400850 11400850 single base substitution G C upstream_gene_variant SKCM-US 8 11405611 11405611 single base substitution G A exon_variant SKCM-US 8 11405611 11405611 single base substitution G A synonymous_variant G11G 33G>A SKCM-US 8 11405611 11405611 single base substitution G A synonymous_variant G82G 246G>A SKCM-US 8 11405611 11405611 single base substitution G A upstream_gene_variant SKCM-US 8 11407720 11407720 single base substitution C A downstream_gene_variant SKCM-US 8 11407720 11407720 single base substitution C A exon_variant SKCM-US 8 11407720 11407720 single base substitution C A missense_variant P141T 421C>A SKCM-US 8 11407720 11407720 single base substitution C A missense_variant P70T 208C>A SKCM-US 8 11407733 11407733 single base substitution C T downstream_gene_variant SKCM-US 8 11407733 11407733 single base substitution C T exon_variant SKCM-US 8 11407733 11407733 single base substitution C T missense_variant A145V 434C>T SKCM-US 8 11407733 11407733 single base substitution C T missense_variant A74V 221C>T SKCM-US 8 11407735 11407735 single base substitution G A downstream_gene_variant SKCM-US 8 11407735 11407735 single base substitution G A exon_variant SKCM-US 8 11407735 11407735 single base substitution G A missense_variant G146S 436G>A SKCM-US 8 11407735 11407735 single base substitution G A missense_variant G75S 223G>A SKCM-US 8 11407739 11407739 single base substitution C T downstream_gene_variant SKCM-US 8 11407739 11407739 single base substitution C T exon_variant SKCM-US 8 11407739 11407739 single base substitution C T missense_variant S147F 440C>T SKCM-US 8 11407739 11407739 single base substitution C T missense_variant S76F 227C>T SKCM-US 8 11407759 11407759 single base substitution G A downstream_gene_variant SKCM-US 8 11407759 11407759 single base substitution G A exon_variant SKCM-US 8 11407759 11407759 single base substitution G A missense_variant E154K 460G>A SKCM-US 8 11407759 11407759 single base substitution G A missense_variant E83K 247G>A SKCM-US 8 11412309 11412309 single base substitution A G exon_variant SKCM-US 8 11412309 11412309 single base substitution A G missense_variant Y106C 317A>G SKCM-US 8 11412309 11412309 single base substitution A G missense_variant Y177C 530A>G SKCM-US 8 11412914 11412914 single base substitution G A exon_variant SKCM-US 8 11412914 11412914 single base substitution G A synonymous_variant Q160Q 480G>A SKCM-US 8 11412914 11412914 single base substitution G A synonymous_variant Q231Q 693G>A SKCM-US 8 11412914 11412914 single base substitution G A upstream_gene_variant SKCM-US 8 11412923 11412923 single base substitution G A exon_variant SKCM-US 8 11412923 11412923 single base substitution G A stop_gained W163* 489G>A SKCM-US 8 11412923 11412923 single base substitution G A stop_gained W234* 702G>A SKCM-US 8 11412923 11412923 single base substitution G A upstream_gene_variant SKCM-US 8 11414214 11414214 single base substitution G A exon_variant SKCM-US 8 11414214 11414214 single base substitution G A missense_variant G203R 607G>A SKCM-US 8 11414214 11414214 single base substitution G A missense_variant G274R 820G>A SKCM-US 8 11414214 11414214 single base substitution G A upstream_gene_variant SKCM-US 8 11414274 11414274 single base substitution G A exon_variant SKCM-US 8 11414274 11414274 single base substitution G A missense_variant E223K 667G>A SKCM-US 8 11414274 11414274 single base substitution G A missense_variant E294K 880G>A SKCM-US 8 11414274 11414274 single base substitution G A upstream_gene_variant SKCM-US 8 11415549 11415549 single base substitution T C downstream_gene_variant SKCM-US 8 11415549 11415549 single base substitution T C splice_donor_variant SKCM-US 8 11415549 11415549 single base substitution T C upstream_gene_variant SKCM-US 8 11418822 11418822 single base substitution G A downstream_gene_variant SKCM-US 8 11418822 11418822 single base substitution G A exon_variant SKCM-US 8 11418822 11418822 single base substitution G A synonymous_variant G276G 828G>A SKCM-US 8 11418822 11418822 single base substitution G A synonymous_variant G347G 1041G>A SKCM-US 8 11418875 11418875 single base substitution A G downstream_gene_variant SKCM-US 8 11418875 11418875 single base substitution A G exon_variant SKCM-US 8 11418875 11418875 single base substitution A G missense_variant N294S 881A>G SKCM-US 8 11418875 11418875 single base substitution A G missense_variant N365S 1094A>G SKCM-US 8 11420586 11420586 single base substitution G A exon_variant SKCM-US 8 11420586 11420586 single base substitution G A missense_variant E356K 1066G>A SKCM-US 8 11420586 11420586 single base substitution G A missense_variant E427K 1279G>A STAD-US 8 11400743 11400743 single base substitution G C intron_variant STAD-US 8 11400743 11400743 single base substitution G C missense_variant V4L 10G>C STAD-US 8 11400743 11400743 single base substitution G C upstream_gene_variant STAD-US 8 11400775 11400775 single base substitution G A intron_variant STAD-US 8 11400775 11400775 single base substitution G A synonymous_variant P14P 42G>A STAD-US 8 11400775 11400775 single base substitution G A upstream_gene_variant STAD-US 8 11403589 11403589 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 8 11403589 11403589 single base substitution C T exon_variant STAD-US 8 11403589 11403589 single base substitution C T missense_variant P51L 152C>T STAD-US 8 11403589 11403589 single base substitution C T upstream_gene_variant STAD-US 8 11405571 11405571 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant STAD-US 8 11405571 11405571 single base substitution A G exon_variant STAD-US 8 11405571 11405571 single base substitution A G missense_variant Y69C 206A>G STAD-US 8 11405571 11405571 single base substitution A G upstream_gene_variant STAD-US 8 11414188 11414188 single base substitution A G exon_variant STAD-US 8 11414188 11414188 single base substitution A G missense_variant K194R 581A>G STAD-US 8 11414188 11414188 single base substitution A G missense_variant K265R 794A>G STAD-US 8 11414188 11414188 single base substitution A G upstream_gene_variant STAD-US 8 11414274 11414274 single base substitution G A exon_variant STAD-US 8 11414274 11414274 single base substitution G A missense_variant E223K 667G>A STAD-US 8 11414274 11414274 single base substitution G A missense_variant E294K 880G>A STAD-US 8 11414274 11414274 single base substitution G A upstream_gene_variant STAD-US 8 11418890 11418890 single base substitution A G downstream_gene_variant STAD-US 8 11418890 11418890 single base substitution A G exon_variant STAD-US 8 11418890 11418890 single base substitution A G missense_variant E299G 896A>G STAD-US 8 11418890 11418890 single base substitution A G missense_variant E370G 1109A>G STAD-US 8 11420558 11420558 single base substitution C T exon_variant STAD-US 8 11420558 11420558 single base substitution C T synonymous_variant D346D 1038C>T STAD-US 8 11420558 11420558 single base substitution C T synonymous_variant D417D 1251C>T STAD-US 8 11420560 11420560 single base substitution T C exon_variant STAD-US 8 11420560 11420560 single base substitution T C missense_variant V347A 1040T>C STAD-US 8 11420560 11420560 single base substitution T C missense_variant V418A 1253T>C STAD-US 8 11421550 11421550 single base substitution A G exon_variant STAD-US 8 11421550 11421550 single base substitution A G missense_variant E413G 1238A>G STAD-US 8 11421550 11421550 single base substitution A G missense_variant E484G 1451A>G UCEC-US 8 11403593 11403593 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 8 11403593 11403593 single base substitution C T exon_variant UCEC-US 8 11403593 11403593 single base substitution C T synonymous_variant P52P 156C>T UCEC-US 8 11403593 11403593 single base substitution C T upstream_gene_variant UCEC-US 8 11405575 11405575 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 8 11405575 11405575 single base substitution C T exon_variant UCEC-US 8 11405575 11405575 single base substitution C T synonymous_variant T70T 210C>T UCEC-US 8 11405575 11405575 single base substitution C T upstream_gene_variant UCEC-US 8 11406542 11406542 single base substitution C T exon_variant UCEC-US 8 11406542 11406542 single base substitution C T synonymous_variant D22D 66C>T UCEC-US 8 11406542 11406542 single base substitution C T synonymous_variant D93D 279C>T UCEC-US 8 11406542 11406542 single base substitution C T upstream_gene_variant UCEC-US 8 11406553 11406553 single base substitution C T exon_variant UCEC-US 8 11406553 11406553 single base substitution C T missense_variant A26V 77C>T UCEC-US 8 11406553 11406553 single base substitution C T missense_variant A97V 290C>T UCEC-US 8 11406553 11406553 single base substitution C T upstream_gene_variant UCEC-US 8 11412316 11412316 single base substitution C T exon_variant UCEC-US 8 11412316 11412316 single base substitution C T synonymous_variant I108I 324C>T UCEC-US 8 11412316 11412316 single base substitution C T synonymous_variant I179I 537C>T UCEC-US 8 11412358 11412358 single base substitution C A exon_variant UCEC-US 8 11412358 11412358 single base substitution C A synonymous_variant I122I 366C>A UCEC-US 8 11412358 11412358 single base substitution C A synonymous_variant I193I 579C>A UCEC-US 8 11414312 11414312 single base substitution G T downstream_gene_variant UCEC-US 8 11414312 11414312 single base substitution G T missense_variant E235D 705G>T UCEC-US 8 11414312 11414312 single base substitution G T missense_variant E306D 918G>T UCEC-US 8 11414312 11414312 single base substitution G T upstream_gene_variant UCEC-US 8 11415527 11415527 single base substitution C A downstream_gene_variant UCEC-US 8 11415527 11415527 single base substitution C A missense_variant L266M 796C>A UCEC-US 8 11415527 11415527 single base substitution C A missense_variant L337M 1009C>A UCEC-US 8 11415527 11415527 single base substitution C A upstream_gene_variant UCEC-US 8 11418839 11418839 single base substitution G A downstream_gene_variant UCEC-US 8 11418839 11418839 single base substitution G A exon_variant UCEC-US 8 11418839 11418839 single base substitution G A missense_variant R282H 845G>A UCEC-US 8 11418839 11418839 single base substitution G A missense_variant R353H 1058G>A UCEC-US 8 11418936 11418936 single base substitution C T downstream_gene_variant UCEC-US 8 11418936 11418936 single base substitution C T exon_variant UCEC-US 8 11418936 11418936 single base substitution C T synonymous_variant I314I 942C>T UCEC-US 8 11418936 11418936 single base substitution C T synonymous_variant I385I 1155C>T UCEC-US 8 11420545 11420545 single base substitution C T exon_variant UCEC-US 8 11420545 11420545 single base substitution C T missense_variant T342I 1025C>T UCEC-US 8 11420545 11420545 single base substitution C T missense_variant T413I 1238C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 15 COSM5732996 c.892C>T p.R298* Substitution - Nonsense 8:11556777-11556777 + SM2-1 COSM3727621 c.1252G>A p.V418M Substitution - Missense 8:11563050-11563050 + PTC-7C COSM4162611 c.843T>C p.F281F Substitution - coding silent 8:11556728-11556728 + YUGANK COSM1686045 c.440C>T p.S147F Substitution - Missense 8:11550230-11550230 + T3225 COSM4665784 c.117G>A p.P39P Substitution - coding silent 8:11543341-11543341 + KYSE-180 COSM3164213 c.74C>T p.P25L Substitution - Missense 8:11543298-11543298 + PET100T COSM4963667 c.459T>A p.S153R Substitution - Missense 8:11550249-11550249 + PTC-7C COSM3763006 c.330T>C p.S110S Substitution - coding silent 8:11549084-11549084 + YUGOE COSM1686045 c.440C>T p.S147F Substitution - Missense 8:11550230-11550230 + YURAY COSM5408693 c.687G>A p.W229* Substitution - Nonsense 8:11555399-11555399 + TCGA-EE-A2MC-06 COSM3644407 c.436G>A p.G146S Substitution - Missense 8:11550226-11550226 + KYSE-410 COSM4365043 c.357G>C p.L119L Substitution - coding silent 8:11549111-11549111 + 19M COSM4768543 c.832C>T p.P278S Substitution - Missense 8:11556717-11556717 + pfg097T COSM4665785 c.883C>T p.R295W Substitution - Missense 8:11556768-11556768 + YUNEKI COSM5408692 c.482C>T p.S161F Substitution - Missense 8:11554752-11554752 + TCGA-60-2724-01 COSM748585 c.41C>T p.P14L Substitution - Missense 8:11543265-11543265 + 2_RESISTANT COSM1721541 c.396G>A p.K132K Substitution - coding silent 8:11550186-11550186 + 8031146 COSM1169134 c.809C>T p.T270M Substitution - Missense 8:11556694-11556694 + CSCC-20-T COSM4540834 c.28G>A p.D10N Substitution - Missense 8:11543252-11543252 + TCGA-EE-A3JB-06 COSM4520078 c.1041G>A p.G347G Substitution - coding silent 8:11561313-11561313 + TCGA-A3-3326-01 COSM485988 c.723C>G p.L241L Substitution - coding silent 8:11555435-11555435 + SJDOSTEOS013 COSM5760395 c.1026G>A p.A342A Substitution - coding silent 8:11558035-11558035 + 1N23-VS-1T23 COSM4973248 c.893G>A p.R298Q Substitution - Missense 8:11556778-11556778 + TCGA-25-1627-01 COSM77339 c.1003C>T p.P335S Substitution - Missense 8:11558012-11558012 + TCGA-DA-A1I5-06 COSM1686046 c.530A>G p.Y177C Substitution - Missense 8:11554800-11554800 + T2269 COSM3884968 c.42G>A p.P14P Substitution - coding silent 8:11543266-11543266 + YUKAY COSM1686044 c.223C>G p.R75G Substitution - Missense 8:11548079-11548079 + TCGA-EB-A3XB-01 COSM3644405 c.421C>A p.P141T Substitution - Missense 8:11550211-11550211 + DN110E9 COSM5772378 c.454G>C p.E152Q Substitution - Missense 8:11550244-11550244 + PT21_2 COSM5901535 c.373T>C p.F125L Substitution - Missense 8:11550163-11550163 + Pat_26_A COSM5873764 c.224G>A p.R75Q Substitution - Missense 8:11548080-11548080 + TCGA-CD-5798-01 COSM3884967 c.10G>C p.V4L Substitution - Missense 8:11543234-11543234 + TCGA-66-2773-01 COSM748576 c.1011G>C p.L337L Substitution - coding silent 8:11558020-11558020 + ESO-D76 COSM1246132 c.184T>A p.F62I Substitution - Missense 8:11548040-11548040 + TCGA-D1-A103-01 COSM1095189 c.1009C>A p.L337M Substitution - Missense 8:11558018-11558018 + TCGA-AZ-4615-01 COSM3698794 c.166C>A p.L56M Substitution - Missense 8:11546094-11546094 + TCGA-EB-A3Y7-01 COSM3644422 c.693G>A p.Q231Q Substitution - coding silent 8:11555405-11555405 + TCGA-B5-A0JY-01 COSM1095196 c.1155C>T p.I385I Substitution - coding silent 8:11561427-11561427 + CSCC-10-T COSM4520078 c.1041G>A p.G347G Substitution - coding silent 8:11561313-11561313 + 203T COSM1726712 c.59A>T p.K20M Substitution - Missense 8:11543283-11543283 + TCGA-AP-A0LM-01 COSM1095183 c.537C>T p.I179I Substitution - coding silent 8:11554807-11554807 + PD1520a COSM20486 c.211G>A p.A71T Substitution - Missense 8:11548067-11548067 + TCGA-FW-A3R5-06 COSM3924524 c.54G>A p.K18K Substitution - coding silent 8:11543278-11543278 + TCGA-BS-A0UF-01 COSM1095177 c.290C>T p.A97V Substitution - Missense 8:11549044-11549044 + ME009T COSM223234 c.202G>A p.D68N Substitution - Missense 8:11548058-11548058 + 587376 COSM1184746 c.1022C>T p.S341L Substitution - Missense 8:11558031-11558031 + TCGA-FW-A3R5-06 COSM3884982 c.880G>A p.E294K Substitution - Missense 8:11556765-11556765 + TCGA-IH-A3EA-01 COSM3644394 c.55G>A p.D19N Substitution - Missense 8:11543279-11543279 + STC291 COSM5062836 c.902C>T p.A301V Substitution - Missense 8:11556787-11556787 + TCGA-22-1011-01 COSM748578 c.705G>A p.E235E Substitution - coding silent 8:11555417-11555417 + PD7205a COSM5772378 c.454G>C p.E152Q Substitution - Missense 8:11550244-11550244 + TCGA-B6-A0RE-01 COSM5213609 c.18_19insA p.P9fs*46 Insertion - Frameshift 8:11543242-11543243 + ESO-717 COSM1242036 c.76C>T p.L26L Substitution - coding silent 8:11543300-11543300 + SC_9090 COSM5546794 c.89_104del16 p.Q31fs*37 Deletion - Frameshift 8:11543313-11543328 + B65-Tumor COSM1755526 c.1019T>C p.M340T Substitution - Missense 8:11558028-11558028 + TCGA-AP-A0LM-01 COSM1095173 c.210C>T p.T70T Substitution - coding silent 8:11548066-11548066 + TCGA-EE-A2GO-06 COSM3644423 c.820G>A p.G274R Substitution - Missense 8:11556705-11556705 + C086 COSM5527367 c.186C>T p.F62F Substitution - coding silent 8:11548042-11548042 + CSCC-40-T COSM4454978 c.629A>G p.D210G Substitution - Missense 8:11555341-11555341 + TCGA-CG-5721-01 COSM3884972 c.206A>G p.Y69C Substitution - Missense 8:11548062-11548062 + TCGA-HT-A615-01 COSM1246131 c.116C>T p.P39L Substitution - Missense 8:11543340-11543340 + TCGA-AP-A051-01 COSM1095187 c.918G>T p.E306D Substitution - Missense 8:11556803-11556803 + RK170_C01 COSM1635606 c.484C>T p.L162L Substitution - coding silent 8:11554754-11554754 + TCGA-GC-A3YS-01 COSM3778844 c.223C>A p.R75R Substitution - coding silent 8:11548079-11548079 + B65 COSM1755526 c.1019T>C p.M340T Substitution - Missense 8:11558028-11558028 + PT46 COSM3164213 c.74C>T p.P25L Substitution - Missense 8:11543298-11543298 + SNU-C4 COSM3164268 c.901G>A p.A301T Substitution - Missense 8:11556786-11556786 + TCGA-G4-6586-01 COSM1454341 c.435C>T p.A145A Substitution - coding silent 8:11550225-11550225 + YUKLAB COSM1699723 c.34G>A p.E12K Substitution - Missense 8:11543258-11543258 + Pat_41_B COSM5873763 c.89C>T p.A30V Substitution - Missense 8:11543313-11543313 + RKO COSM3164273 c.989G>T p.S330I Substitution - Missense 8:11557998-11557998 + LUAD-RT-S01840 COSM384839 c.55G>T p.D19Y Substitution - Missense 8:11543279-11543279 + TCGA-43-5668-01 COSM748574 c.1401C>G p.G467G Substitution - coding silent 8:11563991-11563991 + YUOMEGA COSM3644423 c.820G>A p.G274R Substitution - Missense 8:11556705-11556705 + LUAD-S01346 COSM397883 c.890T>G p.V297G Substitution - Missense 8:11556775-11556775 + CHEWS007 COSM4587738 c.712C>T p.R238W Substitution - Missense 8:11555424-11555424 + TCGA-BR-6452-01 COSM3884982 c.880G>A p.E294K Substitution - Missense 8:11556765-11556765 + HT115 COSM3164270 c.936C>T p.T312T Substitution - coding silent 8:11556821-11556821 + TCGA-66-2787-01 COSM748583 c.153G>T p.P51P Substitution - coding silent 8:11546081-11546081 + T6 COSM3763006 c.330T>C p.S110S Substitution - coding silent 8:11549084-11549084 + ESO-007 COSM1246130 c.713G>A p.R238Q Substitution - Missense 8:11555425-11555425 + ME050T COSM230620 c.986G>A p.G329E Substitution - Missense 8:11557995-11557995 + I2L-P19Tb-Tumor-Organoid COSM5358585 c.952+7delC p.? Unknown 8:11556844-11556844 + TCGA-BS-A0UJ-01 COSM1095198 c.1238C>T p.T413I Substitution - Missense 8:11563036-11563036 + TCGA-HU-A4GH-01 COSM3884981 c.794A>G p.K265R Substitution - Missense 8:11556679-11556679 + TCGA-D7-5577-01 COSM3884971 c.152C>T p.P51L Substitution - Missense 8:11546080-11546080 + ME100L COSM231148 c.145C>T p.P49S Substitution - Missense 8:11546073-11546073 + TCGA-OL-A5S0-01 COSM5835504 c.478delT p.F160fs*5 Deletion - Frameshift 8:11554748-11554748 + TCGA-BR-8361-01 COSM3884991 c.1109A>G p.E370G Substitution - Missense 8:11561381-11561381 + YUWIA COSM5408699 c.1078G>A p.D360N Substitution - Missense 8:11561350-11561350 + TCGA-EI-6917-01 COSM3432053 c.325C>T p.P109S Substitution - Missense 8:11549079-11549079 + TCGA-EB-A44O-01 COSM3644404 c.246G>A p.G82G Substitution - coding silent 8:11548102-11548102 + T3080 COSM3164215 c.103G>A p.A35T Substitution - Missense 8:11543327-11543327 + TCGA-D8-A140-01 COSM453888 c.1169C>T p.T390M Substitution - Missense 8:11561441-11561441 + TCGA-EE-A2GL-06 COSM3644406 c.434C>T p.A145V Substitution - Missense 8:11550224-11550224 + TCGA-A2-A25B-01 COSM1488928 c.768G>T p.W256C Substitution - Missense 8:11555480-11555480 + 587222 COSM1184745 c.412C>T p.L138F Substitution - Missense 8:11550202-11550202 + TCGA-CZ-4854-01 COSM3367173 c.957C>T p.C319C Substitution - coding silent 8:11557966-11557966 + LUAD-F00368 COSM341513 c.1152C>A p.I384I Substitution - coding silent 8:11561424-11561424 + HCC134T COSM5818979 c.289G>T p.A97S Substitution - Missense 8:11549043-11549043 + SS6003119 COSM3665306 c.665G>A p.R222H Substitution - Missense 8:11555377-11555377 + TCGA-A6-5661-01 COSM1454348 c.1297C>T p.R433W Substitution - Missense 8:11563095-11563095 + LC_S6 COSM1190798 c.340delG p.A114fs*51 Deletion - Frameshift 8:11549094-11549094 + ACINAR26 COSM180845 c.301G>A p.V101I Substitution - Missense 8:11549055-11549055 + TCGA-22-5478-01 COSM748575 c.1181-1G>A p.? Unknown 8:11562978-11562978 + Pat_46_A COSM5873766 c.758G>A p.G253D Substitution - Missense 8:11555470-11555470 + PCSI_0356_Pa_P_526 COSM3781367 c.773-7G>A p.? Unknown 8:11556651-11556651 + XHDG09 COSM4768543 c.832C>T p.P278S Substitution - Missense 8:11556717-11556717 + TCGA-D3-A3C7-06 COSM3644424 c.1029+2T>C p.? Unknown 8:11558040-11558040 + TCGA-CG-5721-01 COSM3884993 c.1253T>C p.V418A Substitution - Missense 8:11563051-11563051 + 01-P459 COSM4587739 c.1104G>A p.V368V Substitution - coding silent 8:11561376-11561376 + TCGA-EE-A2MR-06 COSM3164263 c.702G>A p.W234* Substitution - Nonsense 8:11555414-11555414 + HCC140T COSM5823167 c.98A>G p.K33R Substitution - Missense 8:11543322-11543322 + TCGA-AA-3667-01 COSM292681 c.102C>T p.D34D Substitution - coding silent 8:11543326-11543326 + S00836 COSM309482 c.772G>T p.G258C Substitution - Missense 8:11555484-11555484 + TCGA-76-6661-01 COSM180845 c.301G>A p.V101I Substitution - Missense 8:11549055-11549055 + C0023T COSM4138610 c.717G>T p.Q239H Substitution - Missense 8:11555429-11555429 + 2318491 COSM4776615 c.792G>A p.M264I Substitution - Missense 8:11556677-11556677 + TCGA-A8-A07B-01 COSM5835503 c.242_243insG p.E83fs*29 Insertion - Frameshift 8:11548098-11548099 + LUAD-CHTN-MAD06-00668 COSM360406 c.229C>A p.L77M Substitution - Missense 8:11548085-11548085 + TCGA-46-6026-01 COSM748577 c.832C>G p.P278A Substitution - Missense 8:11556717-11556717 + YUCOT COSM1686046 c.530A>G p.Y177C Substitution - Missense 8:11554800-11554800 + CSCC-7-T COSM4445426 c.773-3C>T p.? Unknown 8:11556655-11556655 + TCGA-D1-A17Q-01 COSM1095185 c.579C>A p.I193I Substitution - coding silent 8:11554849-11554849 + YURAY COSM5408694 c.964G>A p.D322N Substitution - Missense 8:11557973-11557973 + ME043T COSM228478 c.1286T>A p.V429D Substitution - Missense 8:11563084-11563084 + PCSI_0529_Pa_P_526 COSM5761244 c.1249G>T p.D417Y Substitution - Missense 8:11563047-11563047 + TCGA-D1-A16J-01 COSM1095194 c.1058G>A p.R353H Substitution - Missense 8:11561330-11561330 + TCGA-B5-A0JY-01 COSM1095175 c.279C>T p.D93D Substitution - coding silent 8:11549033-11549033 + TCGA-DD-A4NQ-01 COSM4941073 c.1228G>A p.G410R Substitution - Missense 8:11563026-11563026 + YUTALO COSM1686047 c.1298G>A p.R433Q Substitution - Missense 8:11563096-11563096 + ITNET_0100_T COSM4963667 c.459T>A p.S153R Substitution - Missense 8:11550249-11550249 + 2_RESISTANT COSM1721542 c.1062G>A p.M354I Substitution - Missense 8:11561334-11561334 + TCGA-HU-8610-01 COSM3884968 c.42G>A p.P14P Substitution - coding silent 8:11543266-11543266 + PD1520a COSM20486 c.211G>A p.A71T Substitution - Missense 8:11548067-11548067 + YULAPE COSM1699725 c.1258T>C p.S420P Substitution - Missense 8:11563056-11563056 + TCGA-AM-5821-01 COSM3763006 c.330T>C p.S110S Substitution - coding silent 8:11549084-11549084 + TCGA-AA-3672-01 COSM292720 c.610C>T p.H204Y Substitution - Missense 8:11554880-11554880 + TCGA-BR-6706-01 COSM3884994 c.1451A>G p.E484G Substitution - Missense 8:11564041-11564041 + T3225 COSM20486 c.211G>A p.A71T Substitution - Missense 8:11548067-11548067 + LOVO COSM4645633 c.1397G>A p.R466H Substitution - Missense 8:11563987-11563987 + TCGA-BR-8680-01 COSM3884968 c.42G>A p.P14P Substitution - coding silent 8:11543266-11543266 + OVCAR-4 COSM1673762 c.391C>G p.R131G Substitution - Missense 8:11550181-11550181 + TCGA-EB-A3Y7-01 COSM3644433 c.1279G>A p.E427K Substitution - Missense 8:11563077-11563077 + TCGA-BR-8591-01 COSM3884992 c.1251C>T p.D417D Substitution - coding silent 8:11563049-11563049 + TCGA-EE-A29B-06 COSM3644432 c.1094A>G p.N365S Substitution - Missense 8:11561366-11561366 + TCGA-D3-A51R-06 COSM1686045 c.440C>T p.S147F Substitution - Missense 8:11550230-11550230 + CHEWS018 COSM4587737 c.369-2A>G p.? Unknown 8:11550157-11550157 + TCGA-A3-3374-01 COSM1496749 c.759C>A p.G253G Substitution - coding silent 8:11555471-11555471 + 19 COSM5746847 c.1129G>A p.A377T Substitution - Missense 8:11561401-11561401 + 2_PRE-TREATMENT COSM1721541 c.396G>A p.K132K Substitution - coding silent 8:11550186-11550186 + TCGA-DA-A1HV-06 COSM3644422 c.693G>A p.Q231Q Substitution - coding silent 8:11555405-11555405 + TCGA-D3-A1Q6-06 COSM3644397 c.117G>C p.P39P Substitution - coding silent 8:11543341-11543341 + TCGA-EB-A24C-01 COSM3644396 c.107C>T p.P36L Substitution - Missense 8:11543331-11543331 + TCGA-AP-A0LM-01 COSM1095171 c.156C>T p.P52P Substitution - coding silent 8:11546084-11546084 + OSCC-GB_01040111 COSM4886206 c.86G>A p.S29N Substitution - Missense 8:11543310-11543310 + TCGA-FG-6692-01 COSM603754 c.900C>T p.Y300Y Substitution - coding silent 8:11556785-11556785 + YUWAND COSM1699724 c.397G>A p.E133K Substitution - Missense 8:11550187-11550187 + T578 COSM4665785 c.883C>T p.R295W Substitution - Missense 8:11556768-11556768 + 2_PRE-TREATMENT COSM1721542 c.1062G>A p.M354I Substitution - Missense 8:11561334-11561334 + ESO-122 COSM1246131 c.116C>T p.P39L Substitution - Missense 8:11543340-11543340 + YCC3 COSM98866 c.514G>A p.E172K Substitution - Missense 8:11554784-11554784 + ESCC_36 COSM5628851 c.686G>A p.W229* Substitution - Nonsense 8:11555398-11555398 + Au1 COSM5596353 c.1030-7C>T p.? Unknown 8:11561295-11561295 + 79 COSM5011881 c.1169C>A p.T390K Substitution - Missense 8:11561441-11561441 + TCGA-IH-A3EA-01 COSM3644408 c.460G>A p.E154K Substitution - Missense 8:11550250-11550250 + WM3211 COSM1699724 c.397G>A p.E133K Substitution - Missense 8:11550187-11550187 + MO_1040 COSM3884992 c.1251C>T p.D417D Substitution - coding silent 8:11563049-11563049 + Pat_45_B COSM5873765 c.547G>T p.D183Y Substitution - Missense 8:11554817-11554817 + QC2-34-T2 COSM3763006 c.330T>C p.S110S Substitution - coding silent 8:11549084-11549084 + TCGA-EE-A185-06 COSM3644395 c.81G>A p.K27K Substitution - coding silent 8:11543305-11543305 + TCGA-26-6174-01 COSM1246131 c.116C>T p.P39L Substitution - Missense 8:11543340-11543340 + TCGA-A2-A0T6-01 COSM3833909 c.580A>C p.T194P Substitution - Missense 8:11554850-11554850 + NB-1881 COSM1283659 c.564C>A p.Y188* Substitution - Nonsense 8:11554834-11554834 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.146586;Hs.146591 8p23-p22 191305 2488695|CGAP|BC007371|C/T|non-coding||1837|Validated; 2488695|CGAP|BC032413|C/T|non-coding||1883|Validated; 2488696|CGAP|BC007371|G/T|non-coding||1999|Candidate; 2488696|CGAP|BC032413|G/T|non-coding||2045|Candidate; 2488697|CGAP|BC007371|A/G|non-coding||2089|Validated; 2488697|CGAP|BC032413|A/G|non-coding||2135|Validated; 1510139|dbSNP|BC007371|A/G|coding|Val287Met|1002|Candidate; 1510139|dbSNP|BC032413|A/G|coding|Val287Met|1048|Candidate; 1510152|dbSNP|BC032413|G/T|non-coding||2045|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.E484G c.1451A>G 8 11421550 STAD A G Missense p.I357V c.1069A>G 8 11418850 HNSC A G Missense p.N365S c.1094A>G 8 11418875 CM A G Missense p.Y177C c.530A>G 8 11412309 CM A G Synonymous p.Q31Q c.93A>G 8 11400826 BRCA C A Missense p.P39Q c.116C>A 8 11400849 LUAD C A Missense p.R353S c.1057C>A 8 11418838 LUAD C A Nonsense p.Y188* c.564C>A 8 11412343 NB C A Synonymous p.L100L c.300C>A 8 11406563 LUAD C A Synonymous p.R75R c.223C>A 8 11405588 LUAD CC TT Missense p.R115* c.342_343delinsTT 8 11406605 CM C G IntronicSNV . c.124-116C>G 8 11403445 DLBCL C G Missense p.L218V c.652C>G 8 11412873 LUAD C G Missense p.P278A c.832C>G 8 11414226 LUSC C G Synonymous p.G467G c.1401C>G 8 11421500 LUSC C G Synonymous p.L241L c.723C>G 8 11412944 RCCC C T IntronicSNV . c.369-3C>T 8 11407665 CM C T Missense p.A145V c.434C>T 8 11407733 CM C T Missense p.P14L c.41C>T 8 11400774 LUSC C T Missense p.P335S c.1003C>T 8 11415521 OV C T Missense p.P36L c.107C>T 8 11400840 CM C T Missense p.P49S c.145C>T 8 11403582 CM C T Missense p.P51L c.152C>T 8 11403589 STAD C T Missense p.S161F c.482C>T 8 11412261 CM C T Missense p.T390M c.1169C>T 8 11418950 BRCA C T Synonymous p.C319C c.957C>T 8 11415475 RCCC C T Synonymous p.Y300Y c.900C>T 8 11414294 LGG C T Synonymous p.Y300Y c.900C>T 8 11414294 LUAD C T Synonymous p.Y300Y c.900C>T 8 11414294 STAD G A IntronicSNV . c.1181-60G>A 8 11420428 CLL G A Missense p.C319Y c.956G>A 8 11415474 MM G A Missense p.D19N c.55G>A 8 11400788 CM G A Missense p.D68N c.202G>A 8 11405567 CM G A Missense p.E154K c.460G>A 8 11407759 CM G A Missense p.G146S c.436G>A 8 11407735 CM G A Missense p.G274R c.820G>A 8 11414214 CM G A Missense p.G329E c.986G>A 8 11415504 CM G A Missense p.R353H c.1058G>A 8 11418839 UCEC G A Missense p.V101I c.301G>A 8 11406564 GBM G A SpliceAcceptorSNV . c.1181-1G>A 8 11420487 LUSC G A Synonymous p.E235E c.705G>A 8 11412926 LUSC G A Synonymous p.G347G c.1041G>A 8 11418822 CM G A Synonymous p.Q226Q c.678G>A 8 11412899 CM G A Synonymous p.Q231Q c.693G>A 8 11412914 CM G A Synonymous p.R192R c.576G>A 8 11412355 CM GCGGCAGTACGAGCT - InFrameDeletion p.R499_L503delRQYEL c.1496_1510delGGCAGTACGAGCTGC 8 11421593 PRAD G C Missense p.E478Q c.1432G>C 8 11421531 STAD G C Missense p.V4L c.10G>C 8 11400743 STAD G C SpliceAcceptorSNV . c.620-1G>C 8 11412840 HNSC G C Synonymous p.L337L c.1011G>C 8 11415529 LUSC G C Synonymous p.P39P c.117G>C 8 11400850 CM GG AA Missense p.G130N c.388_389delinsAA 8 11407687 CM GG AA SpliceAcceptorBlockSubstitution . c.1181-1_1181delinsAA 8 11420487 CM G T Missense p.G258C c.772G>T 8 11412993 SCLC G T Missense p.G410V c.1229G>T 8 11420536 LUAD G T Missense p.W256C c.768G>T 8 11412989 BRCA G T Missense p.W256C c.768G>T 8 11412989 LUAD G T SpliceDonorSNV . c.952+1G>T 8 11414347 LUAD G T Synonymous p.P51P c.153G>T 8 11403590 LUSC T A Missense p.F62I c.184T>A 8 11405549 ESCA T A Missense p.V429D c.1286T>A 8 11420593 CM T C IntronicSNV . c.1-12137T>C 8 11388597 CLL T C IntronicSNV . c.1-12211T>C 8 11388523 CLL T C IntronicSNV . c.1-970T>C 8 11399764 CLL T C SpliceDonorSNV . c.1029+2T>C 8 11415549 CM