Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 23 9656179 9656180 + In_Frame_Ins INS - - GCG TCGA-OR-A5LK-01A-11D-A29I-10 TCGA-OR-A5LK-10A-01D-A29L-10 g.chrX:9656179_9656180insGCG c.480_481insGCG c.(481-483)gcg>GCGgcg p.161_161A>AA ACC 23 9656265 9656265 + Missense_Mutation SNP A A G TCGA-P6-A5OF-01A-11D-A29I-10 TCGA-P6-A5OF-10A-01D-A29L-10 g.chrX:9656265A>G c.566A>G c.(565-567)aAg>aGg p.K189R ACC 23 9673126 9673126 + Missense_Mutation SNP G G A TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chrX:9673126G>A c.1208G>A c.(1207-1209)cGc>cAc p.R403H BLCA 23 9622274 9622274 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 g.chrX:9622274C>G c.123C>G c.(121-123)atC>atG p.I41M BLCA 23 9622318 9622318 + Missense_Mutation SNP G G A TCGA-4Z-AA7O-01A-31D-A391-08 TCGA-4Z-AA7O-10A-01D-A394-08 g.chrX:9622318G>A c.167G>A c.(166-168)aGt>aAt p.S56N BLCA 23 9656165 9656165 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chrX:9656165C>G c.466C>G c.(466-468)Cag>Gag p.Q156E BLCA 23 9659696 9659696 + Nonsense_Mutation SNP G G T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 g.chrX:9659696G>T c.694G>T c.(694-696)Gag>Tag p.E232* BLCA 23 9682998 9682998 + Nonsense_Mutation SNP G G A TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chrX:9682998G>A c.1662G>A c.(1660-1662)tgG>tgA p.W554* BLCA 23 9684283 9684283 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 g.chrX:9684283G>A c.1731G>A c.(1729-1731)aaG>aaA p.K577K BRCA 23 9621720 9621720 + Nonsense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 g.chrX:9621720C>T c.94C>T c.(94-96)Cga>Tga p.R32* BRCA 23 9659623 9659623 + Silent SNP T T C TCGA-A1-A0SE-01A-11D-A099-09 TCGA-A1-A0SE-10A-03D-A099-09 g.chrX:9659623T>C c.621T>C c.(619-621)aaT>aaC p.N207N BRCA 23 9659627 9659627 + Missense_Mutation SNP G G A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chrX:9659627G>A c.625G>A c.(625-627)Gcg>Acg p.A209T BRCA 23 9661204 9661204 + Silent SNP T T C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 g.chrX:9661204T>C c.907T>C c.(907-909)Ttg>Ctg p.L303L BRCA 23 9661244 9661244 + Missense_Mutation SNP C C T TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 g.chrX:9661244C>T c.947C>T c.(946-948)aCg>aTg p.T316M BRCA 23 9661417 9661417 + Missense_Mutation SNP G G T TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 g.chrX:9661417G>T c.1011G>T c.(1009-1011)tgG>tgT p.W337C BRCA 23 9683009 9683009 + Missense_Mutation SNP G G T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 g.chrX:9683009G>T c.1673G>T c.(1672-1674)gGa>gTa p.G558V CESC 23 9660204 9660204 + Silent SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 g.chrX:9660204G>A c.801G>A c.(799-801)ggG>ggA p.G267G CESC 23 9673058 9673058 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chrX:9673058G>C c.1140G>C c.(1138-1140)caG>caC p.Q380H COAD 23 9622289 9622289 + Silent SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chrX:9622289G>A c.138G>A c.(136-138)ccG>ccA p.P46P COAD 23 9656110 9656110 + Silent SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chrX:9656110C>T c.411C>T c.(409-411)gcC>gcT p.A137A COAD 23 9659627 9659627 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chrX:9659627G>A c.625G>A c.(625-627)Gcg>Acg p.A209T COAD 23 9659688 9659688 + Missense_Mutation SNP G G A TCGA-AA-3695-01A-01W-0900-09 TCGA-AA-3695-10A-01W-0900-09 g.chrX:9659688G>A c.686G>A c.(685-687)cGg>cAg p.R229Q COAD 23 9659692 9659692 + Frame_Shift_Del DEL C C - TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chrX:9659692delC c.690delC c.(688-690)ggcfs p.G230fs COAD 23 9660202 9660202 + Frame_Shift_Del DEL G G - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chrX:9660202delG c.799delG c.(799-801)gggfs p.G268fs COAD 23 9660260 9660260 + Missense_Mutation SNP C C T TCGA-AA-3875-01A-01W-0900-09 TCGA-AA-3875-10A-01W-0902-09 g.chrX:9660260C>T c.857C>T c.(856-858)cCg>cTg p.P286L COAD 23 9673062 9673062 + Missense_Mutation SNP A A T TCGA-D5-5541-01A-01D-1650-10 TCGA-D5-5541-10A-02D-1650-10 g.chrX:9673062A>T c.1144A>T c.(1144-1146)Aac>Tac p.N382Y COAD 23 9679710 9679710 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chrX:9679710C>T c.1499C>T c.(1498-1500)aCg>aTg p.T500M COAD 23 9679795 9679795 + Silent SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chrX:9679795C>T c.1584C>T c.(1582-1584)tgC>tgT p.C528C COAD 23 9683034 9683034 + Silent SNP C C T TCGA-AA-3848-01A-01W-0900-09 TCGA-AA-3848-10A-01W-0900-09 g.chrX:9683034C>T c.1698C>T c.(1696-1698)tcC>tcT p.S566S COAD 23 9684278 9684278 + Missense_Mutation SNP C C T TCGA-AA-3695-01A-01W-0900-09 TCGA-AA-3695-10A-01W-0900-09 g.chrX:9684278C>T c.1726C>T c.(1726-1728)Cgg>Tgg p.R576W COADREAD 23 9622289 9622289 + Silent SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chrX:9622289G>A c.138G>A c.(136-138)ccG>ccA p.P46P COADREAD 23 9656110 9656110 + Silent SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chrX:9656110C>T c.411C>T c.(409-411)gcC>gcT p.A137A COADREAD 23 9659627 9659627 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chrX:9659627G>A c.625G>A c.(625-627)Gcg>Acg p.A209T COADREAD 23 9659688 9659688 + Missense_Mutation SNP G G A TCGA-AA-3695-01A-01W-0900-09 TCGA-AA-3695-10A-01W-0900-09 g.chrX:9659688G>A c.686G>A c.(685-687)cGg>cAg p.R229Q COADREAD 23 9659692 9659692 + Frame_Shift_Del DEL C C - TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chrX:9659692delC c.690delC c.(688-690)ggcfs p.G230fs COADREAD 23 9660202 9660202 + Frame_Shift_Del DEL G G - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chrX:9660202delG c.799delG c.(799-801)gggfs p.G268fs COADREAD 23 9660260 9660260 + Missense_Mutation SNP C C T TCGA-AA-3875-01A-01W-0900-09 TCGA-AA-3875-10A-01W-0902-09 g.chrX:9660260C>T c.857C>T c.(856-858)cCg>cTg p.P286L COADREAD 23 9661421 9661421 + Nonsense_Mutation SNP C C T TCGA-AG-3584-01A-01W-0831-10 TCGA-AG-3584-10A-01W-0831-10 g.chrX:9661421C>T c.1015C>T c.(1015-1017)Cga>Tga p.R339* COADREAD 23 9673062 9673062 + Missense_Mutation SNP A A T TCGA-D5-5541-01A-01D-1650-10 TCGA-D5-5541-10A-02D-1650-10 g.chrX:9673062A>T c.1144A>T c.(1144-1146)Aac>Tac p.N382Y COADREAD 23 9679710 9679710 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chrX:9679710C>T c.1499C>T c.(1498-1500)aCg>aTg p.T500M COADREAD 23 9679795 9679795 + Silent SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chrX:9679795C>T c.1584C>T c.(1582-1584)tgC>tgT p.C528C COADREAD 23 9683034 9683034 + Silent SNP C C T TCGA-AA-3848-01A-01W-0900-09 TCGA-AA-3848-10A-01W-0900-09 g.chrX:9683034C>T c.1698C>T c.(1696-1698)tcC>tcT p.S566S COADREAD 23 9684278 9684278 + Missense_Mutation SNP C C T TCGA-AA-3695-01A-01W-0900-09 TCGA-AA-3695-10A-01W-0900-09 g.chrX:9684278C>T c.1726C>T c.(1726-1728)Cgg>Tgg p.R576W ESCA 23 9622336 9622336 + Missense_Mutation SNP T T C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 g.chrX:9622336T>C c.185T>C c.(184-186)cTg>cCg p.L62P ESCA 23 9665428 9665428 + Missense_Mutation SNP C C T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 g.chrX:9665428C>T c.1073C>T c.(1072-1074)gCc>gTc p.A358V GBM 23 9656243 9656243 + Missense_Mutation SNP G G A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 g.chrX:9656243G>A c.544G>A c.(544-546)Gtt>Att p.V182I GBMLGG 23 9656243 9656243 + Missense_Mutation SNP G G A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 g.chrX:9656243G>A c.544G>A c.(544-546)Gtt>Att p.V182I HNSC 23 9652149 9652149 + Missense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 g.chrX:9652149C>T c.278C>T c.(277-279)aCg>aTg p.T93M HNSC 23 9659730 9659730 + Missense_Mutation SNP T T G TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 g.chrX:9659730T>G c.728T>G c.(727-729)gTc>gGc p.V243G HNSC 23 9660274 9660274 + Missense_Mutation SNP G G T TCGA-CV-5978-01A-11D-1683-08 TCGA-CV-5978-11A-01D-1683-08 g.chrX:9660274G>T c.871G>T c.(871-873)Gtc>Ttc p.V291F HNSC 23 9665463 9665463 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chrX:9665463C>T c.1108C>T c.(1108-1110)Cat>Tat p.H370Y HNSC 23 9673050 9673050 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 g.chrX:9673050G>A c.1132G>A c.(1132-1134)Gac>Aac p.D378N HNSC 23 9679711 9679711 + Silent SNP G G A TCGA-CV-A45V-01A-21D-A25D-08 TCGA-CV-A45V-10A-01D-A25E-08 g.chrX:9679711G>A c.1500G>A c.(1498-1500)acG>acA p.T500T HNSC 23 9679750 9679750 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chrX:9679750C>T c.1539C>T c.(1537-1539)ttC>ttT p.F513F HNSC 23 9683006 9683006 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 g.chrX:9683006G>A c.1670G>A c.(1669-1671)cGa>cAa p.R557Q KIPAN 23 9652170 9652170 + Missense_Mutation SNP T T C TCGA-B9-4114-01A-01D-1252-08 TCGA-B9-4114-10A-01D-1252-08 g.chrX:9652170T>C c.299T>C c.(298-300)cTc>cCc p.L100P KIPAN 23 9660211 9660211 + Missense_Mutation SNP A A G TCGA-CZ-4857-01A-01D-1373-10 TCGA-CZ-4857-11A-01D-1373-10 g.chrX:9660211A>G c.808A>G c.(808-810)Acc>Gcc p.T270A KIPAN 23 9677737 9677737 + Missense_Mutation SNP C C A TCGA-CJ-4639-01A-02D-1386-10 TCGA-CJ-4639-11A-01D-1251-10 g.chrX:9677737C>A c.1376C>A c.(1375-1377)aCc>aAc p.T459N KIPAN 23 9683003 9683003 + Missense_Mutation SNP C C T TCGA-PJ-A5Z9-01A-11D-A28G-10 TCGA-PJ-A5Z9-10A-01D-A28G-10 g.chrX:9683003C>T c.1667C>T c.(1666-1668)gCc>gTc p.A556V KIRC 23 9660211 9660211 + Missense_Mutation SNP A A G TCGA-CZ-4857-01A-01D-1373-10 TCGA-CZ-4857-11A-01D-1373-10 g.chrX:9660211A>G c.808A>G c.(808-810)Acc>Gcc p.T270A KIRC 23 9677737 9677737 + Missense_Mutation SNP C C A TCGA-CJ-4639-01A-02D-1386-10 TCGA-CJ-4639-11A-01D-1251-10 g.chrX:9677737C>A c.1376C>A c.(1375-1377)aCc>aAc p.T459N KIRP 23 9652170 9652170 + Missense_Mutation SNP T T C TCGA-B9-4114-01A-01D-1252-08 TCGA-B9-4114-10A-01D-1252-08 g.chrX:9652170T>C c.299T>C c.(298-300)cTc>cCc p.L100P KIRP 23 9683003 9683003 + Missense_Mutation SNP C C T TCGA-PJ-A5Z9-01A-11D-A28G-10 TCGA-PJ-A5Z9-10A-01D-A28G-10 g.chrX:9683003C>T c.1667C>T c.(1666-1668)gCc>gTc p.A556V LIHC 23 9677307 9677307 + Missense_Mutation SNP A A G TCGA-DD-AADF-01A-11D-A40R-10 TCGA-DD-AADF-10A-01D-A40U-10 g.chrX:9677307A>G c.1256A>G c.(1255-1257)aAa>aGa p.K419R LIHC 23 9677338 9677338 + Silent SNP C C G TCGA-RC-A7SF-01A-11D-A34Z-10 TCGA-RC-A7SF-10A-01D-A34Z-10 g.chrX:9677338C>G c.1287C>G c.(1285-1287)tcC>tcG p.S429S LIHC 23 9677726 9677726 + Silent SNP A A G TCGA-RC-A7SH-01A-11D-A382-10 TCGA-RC-A7SH-10A-01D-A385-10 g.chrX:9677726A>G c.1365A>G c.(1363-1365)aaA>aaG p.K455K LUAD 23 9622317 9622317 + Missense_Mutation SNP A A T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 g.chrX:9622317A>T c.166A>T c.(166-168)Agt>Tgt p.S56C LUAD 23 9652091 9652091 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 g.chrX:9652091C>A c.220C>A c.(220-222)Cac>Aac p.H74N LUAD 23 9656164 9656164 + Silent SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 g.chrX:9656164T>A c.465T>A c.(463-465)gcT>gcA p.A155A LUAD 23 9656207 9656207 + Missense_Mutation SNP G G T TCGA-55-A492-01A-11D-A24D-08 TCGA-55-A492-10A-01D-A24F-08 g.chrX:9656207G>T c.508G>T c.(508-510)Gca>Tca p.A170S LUAD 23 9660219 9660219 + Silent SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 g.chrX:9660219C>A c.816C>A c.(814-816)ctC>ctA p.L272L LUAD 23 9661224 9661224 + Silent SNP C C T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 g.chrX:9661224C>T c.927C>T c.(925-927)gaC>gaT p.D309D LUAD 23 9673087 9673087 + Missense_Mutation SNP C C T TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chrX:9673087C>T c.1169C>T c.(1168-1170)aCa>aTa p.T390I LUAD 23 9679741 9679741 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chrX:9679741C>T c.1530C>T c.(1528-1530)agC>agT p.S510S LUAD 23 9683028 9683028 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 g.chrX:9683028C>A c.1692C>A c.(1690-1692)agC>agA p.S564R OV 23 9673064 9673064 + Missense_Mutation SNP C C A TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 g.chrX:9673064C>A c.1146C>A c.(1144-1146)aaC>aaA p.N382K PRAD 23 9656280 9656280 + Frame_Shift_Del DEL C C - TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 g.chrX:9656280delC c.581delC c.(580-582)acgfs p.T194fs READ 23 9661421 9661421 + Nonsense_Mutation SNP C C T TCGA-AG-3584-01A-01W-0831-10 TCGA-AG-3584-10A-01W-0831-10 g.chrX:9661421C>T c.1015C>T c.(1015-1017)Cga>Tga p.R339* SKCM 23 9622287 9622287 + Missense_Mutation SNP C C T TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chrX:9622287C>T c.136C>T c.(136-138)Ccg>Tcg p.P46S SKCM 23 9659735 9659735 + Missense_Mutation SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chrX:9659735G>A c.733G>A c.(733-735)Gat>Aat p.D245N SKCM 23 9660253 9660253 + Missense_Mutation SNP G G A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 g.chrX:9660253G>A c.850G>A c.(850-852)Gac>Aac p.D284N SKCM 23 9665457 9665457 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chrX:9665457C>T c.1102C>T c.(1102-1104)Cct>Tct p.P368S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US X 9659696 9659696 single base substitution G T downstream_gene_variant BLCA-US X 9659696 9659696 single base substitution G T stop_gained E181* 541G>T BLCA-US X 9659696 9659696 single base substitution G T stop_gained E232* 694G>T BOCA-FR X 9546590 9546590 single base substitution C A intron_variant BOCA-FR X 9684745 9684745 single base substitution C A 3_prime_UTR_variant BOCA-FR X 9684745 9684745 single base substitution C A downstream_gene_variant BRCA-EU X 9426803 9426803 single base substitution G C upstream_gene_variant BRCA-EU X 9427635 9427635 single base substitution G A upstream_gene_variant BRCA-EU X 9428643 9428643 insertion of <=200bp - T upstream_gene_variant BRCA-EU X 9428648 9428648 single base substitution T A upstream_gene_variant BRCA-EU X 9428649 9428649 single base substitution A T upstream_gene_variant BRCA-EU X 9429084 9429084 single base substitution C G upstream_gene_variant BRCA-EU X 9429859 9429859 single base substitution T A upstream_gene_variant BRCA-EU X 9431136 9431136 single base substitution T A upstream_gene_variant BRCA-EU X 9431181 9431181 single base substitution C G upstream_gene_variant BRCA-EU X 9432138 9432138 single base substitution C A intron_variant BRCA-EU X 9432138 9432138 single base substitution C A upstream_gene_variant BRCA-EU X 9432666 9432666 deletion of <=200bp G - intron_variant BRCA-EU X 9432666 9432666 deletion of <=200bp G - upstream_gene_variant BRCA-EU X 9435134 9435134 single base substitution A C intron_variant BRCA-EU X 9435472 9435472 single base substitution C G intron_variant BRCA-EU X 9436178 9436178 single base substitution G T intron_variant BRCA-EU X 9437990 9437990 single base substitution G A intron_variant BRCA-EU X 9440546 9440546 single base substitution G A intron_variant BRCA-EU X 9441115 9441115 single base substitution T G intron_variant BRCA-EU X 9441116 9441116 single base substitution G T intron_variant BRCA-EU X 9441714 9441714 single base substitution C T intron_variant BRCA-EU X 9442148 9442148 single base substitution T C intron_variant BRCA-EU X 9442955 9442955 single base substitution C A intron_variant BRCA-EU X 9443264 9443264 deletion of <=200bp T - intron_variant BRCA-EU X 9444682 9444682 single base substitution T C intron_variant BRCA-EU X 9445811 9445811 single base substitution C T intron_variant BRCA-EU X 9446099 9446099 single base substitution C T intron_variant BRCA-EU X 9446533 9446533 single base substitution A T intron_variant BRCA-EU X 9448700 9448700 single base substitution A T intron_variant BRCA-EU X 9450101 9450101 single base substitution C G intron_variant BRCA-EU X 9450137 9450137 single base substitution C T intron_variant BRCA-EU X 9450201 9450201 single base substitution C G intron_variant BRCA-EU X 9450242 9450242 single base substitution C A intron_variant BRCA-EU X 9450247 9450247 single base substitution C T intron_variant BRCA-EU X 9450314 9450314 single base substitution C G intron_variant BRCA-EU X 9450423 9450423 single base substitution C A intron_variant BRCA-EU X 9450437 9450437 single base substitution C A intron_variant BRCA-EU X 9450539 9450539 single base substitution C T intron_variant BRCA-EU X 9450545 9450545 single base substitution C G intron_variant BRCA-EU X 9450719 9450719 single base substitution G A intron_variant BRCA-EU X 9450750 9450750 single base substitution C G intron_variant BRCA-EU X 9450882 9450882 single base substitution C G intron_variant BRCA-EU X 9450938 9450938 single base substitution C G intron_variant BRCA-EU X 9450986 9450986 single base substitution C G intron_variant BRCA-EU X 9451175 9451175 single base substitution C G intron_variant BRCA-EU X 9451305 9451305 single base substitution C A intron_variant BRCA-EU X 9451770 9451770 single base substitution C G intron_variant BRCA-EU X 9451893 9451893 single base substitution C G intron_variant BRCA-EU X 9452219 9452219 insertion of <=200bp - T intron_variant BRCA-EU X 9454218 9454218 single base substitution A G intron_variant BRCA-EU X 9454310 9454310 single base substitution G A intron_variant BRCA-EU X 9455361 9455361 deletion of <=200bp C - intron_variant BRCA-EU X 9455757 9455757 single base substitution C G intron_variant BRCA-EU X 9456528 9456528 single base substitution C A intron_variant BRCA-EU X 9456730 9456730 single base substitution G A intron_variant BRCA-EU X 9457353 9457353 single base substitution G T intron_variant BRCA-EU X 9457632 9457632 single base substitution C T intron_variant BRCA-EU X 9458618 9458618 single base substitution G A intron_variant BRCA-EU X 9458895 9458895 single base substitution G A intron_variant BRCA-EU X 9459277 9459277 single base substitution C A intron_variant BRCA-EU X 9462380 9462380 single base substitution C T intron_variant BRCA-EU X 9462490 9462490 single base substitution C T intron_variant BRCA-EU X 9462612 9462612 insertion of <=200bp - A intron_variant BRCA-EU X 9462853 9462853 single base substitution T G intron_variant BRCA-EU X 9462854 9462854 single base substitution C G intron_variant BRCA-EU X 9463187 9463187 single base substitution G A intron_variant BRCA-EU X 9463436 9463436 deletion of <=200bp T - intron_variant BRCA-EU X 9463899 9463899 single base substitution G A intron_variant BRCA-EU X 9465099 9465099 single base substitution G C intron_variant BRCA-EU X 9467702 9467702 single base substitution C T intron_variant BRCA-EU X 9468642 9468642 single base substitution A C intron_variant BRCA-EU X 9468968 9468968 single base substitution G C intron_variant BRCA-EU X 9471077 9471077 single base substitution G T intron_variant BRCA-EU X 9472601 9472601 single base substitution T A intron_variant BRCA-EU X 9473491 9473491 single base substitution T G intron_variant BRCA-EU X 9474518 9474518 deletion of <=200bp A - intron_variant BRCA-EU X 9474594 9474594 single base substitution C A intron_variant BRCA-EU X 9475299 9475299 single base substitution C T intron_variant BRCA-EU X 9477311 9477311 single base substitution G C intron_variant BRCA-EU X 9477324 9477324 single base substitution G A intron_variant BRCA-EU X 9478109 9478109 single base substitution C A intron_variant BRCA-EU X 9478567 9478567 single base substitution T G intron_variant BRCA-EU X 9479905 9479905 deletion of <=200bp T - intron_variant BRCA-EU X 9480489 9480489 single base substitution G T intron_variant BRCA-EU X 9481260 9481260 single base substitution T C intron_variant BRCA-EU X 9483271 9483271 single base substitution C G intron_variant BRCA-EU X 9483319 9483319 single base substitution T C intron_variant BRCA-EU X 9483370 9483370 single base substitution G A intron_variant BRCA-EU X 9483780 9483780 single base substitution G A intron_variant BRCA-EU X 9486071 9486071 single base substitution C G intron_variant BRCA-EU X 9486731 9486731 single base substitution G A intron_variant BRCA-EU X 9487190 9487190 single base substitution C T intron_variant BRCA-EU X 9489666 9489666 single base substitution C T intron_variant BRCA-EU X 9489868 9489868 single base substitution A C intron_variant BRCA-EU X 9492596 9492596 single base substitution A C intron_variant BRCA-EU X 9494745 9494745 single base substitution A C intron_variant BRCA-EU X 9495451 9495451 single base substitution T G intron_variant BRCA-EU X 9495489 9495489 deletion of <=200bp A - intron_variant BRCA-EU X 9497708 9497708 single base substitution C T intron_variant BRCA-EU X 9498156 9498156 single base substitution G A intron_variant BRCA-EU X 9498156 9498156 single base substitution G A upstream_gene_variant BRCA-EU X 9498587 9498587 single base substitution C T intron_variant BRCA-EU X 9498587 9498587 single base substitution C T upstream_gene_variant BRCA-EU X 9499564 9499564 single base substitution G A intron_variant BRCA-EU X 9499564 9499564 single base substitution G A upstream_gene_variant BRCA-EU X 9499680 9499680 single base substitution C T intron_variant BRCA-EU X 9499680 9499680 single base substitution C T upstream_gene_variant BRCA-EU X 9500745 9500745 single base substitution G C intron_variant BRCA-EU X 9500745 9500745 single base substitution G C upstream_gene_variant BRCA-EU X 9500918 9500918 insertion of <=200bp - A intron_variant BRCA-EU X 9500918 9500918 insertion of <=200bp - A upstream_gene_variant BRCA-EU X 9503167 9503167 single base substitution C G intron_variant BRCA-EU X 9506015 9506015 single base substitution A T intron_variant BRCA-EU X 9506740 9506740 single base substitution G A intron_variant BRCA-EU X 9507880 9507880 single base substitution G T intron_variant BRCA-EU X 9507881 9507881 single base substitution G T intron_variant BRCA-EU X 9508025 9508025 single base substitution G T intron_variant BRCA-EU X 9508252 9508252 single base substitution G A intron_variant BRCA-EU X 9509857 9509857 single base substitution T C intron_variant BRCA-EU X 9510794 9510794 single base substitution G C intron_variant BRCA-EU X 9511510 9511510 single base substitution C T intron_variant BRCA-EU X 9515079 9515079 single base substitution C T intron_variant BRCA-EU X 9515607 9515607 single base substitution G A intron_variant BRCA-EU X 9518055 9518055 single base substitution C T intron_variant BRCA-EU X 9518107 9518107 single base substitution C T intron_variant BRCA-EU X 9518193 9518193 single base substitution A T intron_variant BRCA-EU X 9519002 9519002 deletion of <=200bp C - intron_variant BRCA-EU X 9520135 9520135 single base substitution G C intron_variant BRCA-EU X 9520766 9520766 single base substitution C G intron_variant BRCA-EU X 9521185 9521185 insertion of <=200bp - A intron_variant BRCA-EU X 9521603 9521603 single base substitution C T intron_variant BRCA-EU X 9522818 9522818 single base substitution C T intron_variant BRCA-EU X 9523232 9523232 single base substitution C A intron_variant BRCA-EU X 9525248 9525248 single base substitution C T intron_variant BRCA-EU X 9525303 9525303 single base substitution G T intron_variant BRCA-EU X 9525948 9525948 single base substitution T A intron_variant BRCA-EU X 9526579 9526579 single base substitution A T intron_variant BRCA-EU X 9527773 9527773 single base substitution T C intron_variant BRCA-EU X 9528286 9528286 single base substitution C G intron_variant BRCA-EU X 9528498 9528498 single base substitution G A intron_variant BRCA-EU X 9530139 9530139 single base substitution C G intron_variant BRCA-EU X 9530970 9530970 single base substitution A C intron_variant BRCA-EU X 9530993 9530993 single base substitution C T intron_variant BRCA-EU X 9532262 9532262 single base substitution C T intron_variant BRCA-EU X 9533015 9533015 deletion of <=200bp A - intron_variant BRCA-EU X 9533112 9533112 single base substitution C T intron_variant BRCA-EU X 9533421 9533421 single base substitution A C intron_variant BRCA-EU X 9534019 9534019 single base substitution A G intron_variant BRCA-EU X 9534922 9534922 single base substitution G A intron_variant BRCA-EU X 9536639 9536639 insertion of <=200bp - TG intron_variant BRCA-EU X 9537585 9537585 single base substitution G A intron_variant BRCA-EU X 9537922 9537922 single base substitution G C intron_variant BRCA-EU X 9538842 9538842 single base substitution C T intron_variant BRCA-EU X 9539233 9539233 single base substitution G A intron_variant BRCA-EU X 9542946 9542946 deletion of <=200bp T - intron_variant BRCA-EU X 9542946 9542946 insertion of <=200bp - T intron_variant BRCA-EU X 9543735 9543735 single base substitution A T intron_variant BRCA-EU X 9545432 9545432 single base substitution G A intron_variant BRCA-EU X 9546878 9546878 single base substitution C T intron_variant BRCA-EU X 9547607 9547607 single base substitution T C intron_variant BRCA-EU X 9547642 9547642 single base substitution G T intron_variant BRCA-EU X 9547709 9547709 single base substitution G A intron_variant BRCA-EU X 9547748 9547748 single base substitution A G intron_variant BRCA-EU X 9549239 9549239 single base substitution T A intron_variant BRCA-EU X 9549345 9549345 single base substitution C T intron_variant BRCA-EU X 9549445 9549445 single base substitution C T intron_variant BRCA-EU X 9551562 9551562 single base substitution G A intron_variant BRCA-EU X 9551739 9551739 single base substitution T G intron_variant BRCA-EU X 9553975 9553975 single base substitution A T intron_variant BRCA-EU X 9554287 9554287 single base substitution C A intron_variant BRCA-EU X 9554875 9554875 single base substitution G C intron_variant BRCA-EU X 9555965 9555965 single base substitution C G intron_variant BRCA-EU X 9557339 9557339 single base substitution C T intron_variant BRCA-EU X 9557993 9557993 single base substitution T C intron_variant BRCA-EU X 9558705 9558705 single base substitution T A intron_variant BRCA-EU X 9558768 9558768 single base substitution G T intron_variant BRCA-EU X 9559497 9559497 single base substitution T A intron_variant BRCA-EU X 9559908 9559908 single base substitution G T intron_variant BRCA-EU X 9560500 9560500 deletion of <=200bp T - intron_variant BRCA-EU X 9561576 9561576 single base substitution C G intron_variant BRCA-EU X 9562523 9562523 single base substitution C T intron_variant BRCA-EU X 9562693 9562693 single base substitution G T intron_variant BRCA-EU X 9562922 9562922 single base substitution C T intron_variant BRCA-EU X 9563307 9563307 deletion of <=200bp A - intron_variant BRCA-EU X 9564498 9564498 deletion of <=200bp T - intron_variant BRCA-EU X 9564701 9564701 insertion of <=200bp - G intron_variant BRCA-EU X 9564989 9564989 single base substitution C G intron_variant BRCA-EU X 9565146 9565146 single base substitution A G intron_variant BRCA-EU X 9565814 9565814 single base substitution G A intron_variant BRCA-EU X 9566534 9566534 single base substitution C G intron_variant BRCA-EU X 9567183 9567183 single base substitution C T intron_variant BRCA-EU X 9568411 9568411 single base substitution C T intron_variant BRCA-EU X 9568496 9568496 single base substitution G A intron_variant BRCA-EU X 9570473 9570473 single base substitution G T intron_variant BRCA-EU X 9570655 9570655 single base substitution T C intron_variant BRCA-EU X 9571945 9571945 single base substitution C A intron_variant BRCA-EU X 9572339 9572339 single base substitution C T intron_variant BRCA-EU X 9572566 9572566 single base substitution C A intron_variant BRCA-EU X 9573162 9573162 insertion of <=200bp - G intron_variant BRCA-EU X 9573460 9573460 single base substitution C T intron_variant BRCA-EU X 9573713 9573713 single base substitution G A intron_variant BRCA-EU X 9574029 9574029 single base substitution G T intron_variant BRCA-EU X 9574368 9574368 single base substitution A T intron_variant BRCA-EU X 9575208 9575208 single base substitution C T intron_variant BRCA-EU X 9575450 9575450 single base substitution G T intron_variant BRCA-EU X 9576089 9576089 single base substitution G T intron_variant BRCA-EU X 9577753 9577753 single base substitution G A intron_variant BRCA-EU X 9577953 9577953 single base substitution C T intron_variant BRCA-EU X 9578802 9578802 single base substitution G C intron_variant BRCA-EU X 9579931 9579931 single base substitution G T intron_variant BRCA-EU X 9580251 9580251 single base substitution G C intron_variant BRCA-EU X 9581203 9581203 insertion of <=200bp - A intron_variant BRCA-EU X 9582471 9582471 single base substitution G T intron_variant BRCA-EU X 9583083 9583083 single base substitution C T intron_variant BRCA-EU X 9583785 9583785 single base substitution C A intron_variant BRCA-EU X 9583900 9583900 single base substitution T G intron_variant BRCA-EU X 9584984 9584984 single base substitution C G intron_variant BRCA-EU X 9585382 9585382 single base substitution G A intron_variant BRCA-EU X 9585439 9585439 single base substitution C T intron_variant BRCA-EU X 9586526 9586526 single base substitution G A intron_variant BRCA-EU X 9587885 9587885 single base substitution G A intron_variant BRCA-EU X 9588268 9588268 single base substitution G A intron_variant BRCA-EU X 9589120 9589120 single base substitution T C intron_variant BRCA-EU X 9590175 9590175 single base substitution A G intron_variant BRCA-EU X 9590663 9590663 insertion of <=200bp - T intron_variant BRCA-EU X 9591186 9591186 single base substitution G C intron_variant BRCA-EU X 9591235 9591235 single base substitution G A intron_variant BRCA-EU X 9591267 9591267 deletion of <=200bp A - intron_variant BRCA-EU X 9591739 9591739 deletion of <=200bp A - intron_variant BRCA-EU X 9591993 9591993 single base substitution C A intron_variant BRCA-EU X 9592421 9592421 single base substitution G T intron_variant BRCA-EU X 9592892 9592892 deletion of <=200bp A - intron_variant BRCA-EU X 9593616 9593616 single base substitution G T intron_variant BRCA-EU X 9593701 9593701 single base substitution G C intron_variant BRCA-EU X 9595527 9595527 single base substitution C T intron_variant BRCA-EU X 9595581 9595581 single base substitution A T intron_variant BRCA-EU X 9595980 9595980 single base substitution C A intron_variant BRCA-EU X 9596496 9596496 deletion of <=200bp A - intron_variant BRCA-EU X 9597109 9597109 single base substitution T A intron_variant BRCA-EU X 9597346 9597346 single base substitution T A intron_variant BRCA-EU X 9598152 9598152 single base substitution G A intron_variant BRCA-EU X 9598648 9598648 deletion of <=200bp T - intron_variant BRCA-EU X 9601491 9601491 single base substitution G A intron_variant BRCA-EU X 9601725 9601725 deletion of <=200bp A - intron_variant BRCA-EU X 9601805 9601805 single base substitution C G intron_variant BRCA-EU X 9603132 9603132 single base substitution G A intron_variant BRCA-EU X 9603132 9603132 single base substitution G A upstream_gene_variant BRCA-EU X 9605750 9605750 single base substitution G T intron_variant BRCA-EU X 9605750 9605750 single base substitution G T upstream_gene_variant BRCA-EU X 9607739 9607739 single base substitution G A intron_variant BRCA-EU X 9607739 9607739 single base substitution G A upstream_gene_variant BRCA-EU X 9608039 9608039 single base substitution C T intron_variant BRCA-EU X 9608581 9608581 single base substitution C T intron_variant BRCA-EU X 9608607 9608607 single base substitution G C intron_variant BRCA-EU X 9609039 9609039 single base substitution G A intron_variant BRCA-EU X 9612262 9612262 single base substitution G T intron_variant BRCA-EU X 9612481 9612481 single base substitution C T intron_variant BRCA-EU X 9614540 9614540 single base substitution C T downstream_gene_variant BRCA-EU X 9614540 9614540 single base substitution C T intron_variant BRCA-EU X 9614565 9614565 single base substitution C T downstream_gene_variant BRCA-EU X 9614565 9614565 single base substitution C T intron_variant BRCA-EU X 9616968 9616968 single base substitution G T downstream_gene_variant BRCA-EU X 9616968 9616968 single base substitution G T intron_variant BRCA-EU X 9618326 9618326 single base substitution G A downstream_gene_variant BRCA-EU X 9618326 9618326 single base substitution G A intron_variant BRCA-EU X 9618409 9618409 single base substitution G C downstream_gene_variant BRCA-EU X 9618409 9618409 single base substitution G C intron_variant BRCA-EU X 9620477 9620477 single base substitution T C intron_variant BRCA-EU X 9620815 9620815 single base substitution C T intron_variant BRCA-EU X 9621384 9621384 single base substitution G T intron_variant BRCA-EU X 9622461 9622461 single base substitution G T downstream_gene_variant BRCA-EU X 9622461 9622461 single base substitution G T intron_variant BRCA-EU X 9623377 9623377 single base substitution C T downstream_gene_variant BRCA-EU X 9623377 9623377 single base substitution C T intron_variant BRCA-EU X 9623560 9623560 single base substitution C G downstream_gene_variant BRCA-EU X 9623560 9623560 single base substitution C G intron_variant BRCA-EU X 9624055 9624055 single base substitution T C downstream_gene_variant BRCA-EU X 9624055 9624055 single base substitution T C intron_variant BRCA-EU X 9624412 9624412 single base substitution G C downstream_gene_variant BRCA-EU X 9624412 9624412 single base substitution G C intron_variant BRCA-EU X 9624773 9624773 single base substitution G A downstream_gene_variant BRCA-EU X 9624773 9624773 single base substitution G A intron_variant BRCA-EU X 9626476 9626476 single base substitution G T downstream_gene_variant BRCA-EU X 9626476 9626476 single base substitution G T intron_variant BRCA-EU X 9627637 9627637 single base substitution C T intron_variant BRCA-EU X 9629020 9629020 single base substitution C T intron_variant BRCA-EU X 9629354 9629354 single base substitution G C intron_variant BRCA-EU X 9630903 9630903 single base substitution G C intron_variant BRCA-EU X 9632705 9632705 single base substitution C G intron_variant BRCA-EU X 9634474 9634474 deletion of <=200bp A - intron_variant BRCA-EU X 9635163 9635163 single base substitution G A intron_variant BRCA-EU X 9638032 9638032 single base substitution G A intron_variant BRCA-EU X 9639987 9639987 single base substitution A G intron_variant BRCA-EU X 9640149 9640149 insertion of <=200bp - A intron_variant BRCA-EU X 9640210 9640210 single base substitution A T intron_variant BRCA-EU X 9640821 9640821 single base substitution C T intron_variant BRCA-EU X 9642555 9642555 single base substitution G A intron_variant BRCA-EU X 9643226 9643226 single base substitution G C intron_variant BRCA-EU X 9644721 9644721 single base substitution A G intron_variant BRCA-EU X 9645075 9645075 single base substitution G A intron_variant BRCA-EU X 9646042 9646042 single base substitution C T intron_variant BRCA-EU X 9646461 9646461 single base substitution A C intron_variant BRCA-EU X 9647057 9647068 deletion of <=200bp TCATGATTATAC - intron_variant BRCA-EU X 9647478 9647478 single base substitution C T intron_variant BRCA-EU X 9648057 9648057 single base substitution G C intron_variant BRCA-EU X 9648103 9648103 single base substitution G C intron_variant BRCA-EU X 9648714 9648714 single base substitution G A intron_variant BRCA-EU X 9649171 9649171 single base substitution G A intron_variant BRCA-EU X 9649395 9649395 single base substitution C G intron_variant BRCA-EU X 9649418 9649418 single base substitution C T intron_variant BRCA-EU X 9649531 9649531 single base substitution G C intron_variant BRCA-EU X 9651282 9651282 single base substitution G A intron_variant BRCA-EU X 9651750 9651750 single base substitution G C intron_variant BRCA-EU X 9652492 9652492 single base substitution G A downstream_gene_variant BRCA-EU X 9652492 9652492 single base substitution G A intron_variant BRCA-EU X 9654756 9654756 single base substitution A T downstream_gene_variant BRCA-EU X 9654756 9654756 single base substitution A T intron_variant BRCA-EU X 9654808 9654808 single base substitution A G downstream_gene_variant BRCA-EU X 9654808 9654808 single base substitution A G intron_variant BRCA-EU X 9655001 9655007 deletion of <=200bp GTAATCA - downstream_gene_variant BRCA-EU X 9655001 9655007 deletion of <=200bp GTAATCA - intron_variant BRCA-EU X 9655007 9655007 single base substitution A T downstream_gene_variant BRCA-EU X 9655007 9655007 single base substitution A T intron_variant BRCA-EU X 9655893 9655893 single base substitution C T downstream_gene_variant BRCA-EU X 9655893 9655893 single base substitution C T intron_variant BRCA-EU X 9656641 9656641 single base substitution C T downstream_gene_variant BRCA-EU X 9656641 9656641 single base substitution C T intron_variant BRCA-EU X 9656966 9656966 single base substitution G T downstream_gene_variant BRCA-EU X 9656966 9656966 single base substitution G T intron_variant BRCA-EU X 9657228 9657228 single base substitution G C downstream_gene_variant BRCA-EU X 9657228 9657228 single base substitution G C intron_variant BRCA-EU X 9657933 9657933 single base substitution C A downstream_gene_variant BRCA-EU X 9657933 9657933 single base substitution C A intron_variant BRCA-EU X 9660017 9660017 single base substitution G T downstream_gene_variant BRCA-EU X 9660017 9660017 single base substitution G T intron_variant BRCA-EU X 9660310 9660310 single base substitution C T downstream_gene_variant BRCA-EU X 9660310 9660310 single base substitution C T intron_variant BRCA-EU X 9661476 9661476 single base substitution A C intron_variant BRCA-EU X 9662066 9662066 single base substitution G C intron_variant BRCA-EU X 9662772 9662772 single base substitution G A intron_variant BRCA-EU X 9665651 9665651 single base substitution A G intron_variant BRCA-EU X 9667133 9667133 single base substitution G T intron_variant BRCA-EU X 9667347 9667347 single base substitution G T intron_variant BRCA-EU X 9667685 9667685 single base substitution G T intron_variant BRCA-EU X 9667977 9667977 single base substitution C T intron_variant BRCA-EU X 9668277 9668277 single base substitution C A intron_variant BRCA-EU X 9668977 9668977 single base substitution G A intron_variant BRCA-EU X 9672224 9672224 single base substitution C T intron_variant BRCA-EU X 9673821 9673821 single base substitution A G intron_variant BRCA-EU X 9674065 9674065 insertion of <=200bp - G intron_variant BRCA-EU X 9675846 9675846 single base substitution C T intron_variant BRCA-EU X 9676084 9676084 single base substitution C G intron_variant BRCA-EU X 9676185 9676185 single base substitution G C intron_variant BRCA-EU X 9677458 9677458 single base substitution A G intron_variant BRCA-EU X 9679844 9679844 single base substitution C T intron_variant BRCA-EU X 9681657 9681657 single base substitution G A intron_variant BRCA-EU X 9682072 9682072 single base substitution C A intron_variant BRCA-EU X 9682945 9682945 single base substitution G A missense_variant G486R 1456G>A BRCA-EU X 9682945 9682945 single base substitution G A missense_variant G537R 1609G>A BRCA-EU X 9683104 9683104 single base substitution A G intron_variant BRCA-EU X 9683775 9683775 single base substitution G A intron_variant BRCA-EU X 9683932 9683932 single base substitution G A intron_variant BRCA-EU X 9684014 9684014 single base substitution A G intron_variant BRCA-EU X 9684501 9684501 single base substitution C T 3_prime_UTR_variant BRCA-EU X 9684501 9684501 single base substitution C T downstream_gene_variant BRCA-EU X 9684636 9684636 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU X 9684636 9684636 insertion of <=200bp - A downstream_gene_variant BRCA-EU X 9686502 9686502 single base substitution A G 3_prime_UTR_variant BRCA-EU X 9686502 9686502 single base substitution A G downstream_gene_variant BRCA-EU X 9686868 9686868 single base substitution C T 3_prime_UTR_variant BRCA-EU X 9686868 9686868 single base substitution C T downstream_gene_variant BRCA-EU X 9687025 9687025 single base substitution C T 3_prime_UTR_variant BRCA-EU X 9687025 9687025 single base substitution C T downstream_gene_variant BRCA-EU X 9688241 9688241 single base substitution C A downstream_gene_variant BRCA-EU X 9688574 9688574 single base substitution G A downstream_gene_variant BRCA-EU X 9688628 9688628 single base substitution C T downstream_gene_variant BRCA-EU X 9688861 9688861 single base substitution G T downstream_gene_variant BRCA-EU X 9689065 9689065 single base substitution C T downstream_gene_variant BRCA-EU X 9689272 9689272 single base substitution A G downstream_gene_variant BRCA-EU X 9692575 9692575 single base substitution G A downstream_gene_variant BRCA-FR X 9428034 9428034 single base substitution C T upstream_gene_variant BRCA-FR X 9428649 9428649 single base substitution A T upstream_gene_variant BRCA-FR X 9429084 9429084 single base substitution C G upstream_gene_variant BRCA-FR X 9431181 9431181 single base substitution C G upstream_gene_variant BRCA-FR X 9439458 9439458 single base substitution G C intron_variant BRCA-FR X 9439602 9439602 single base substitution T G intron_variant BRCA-FR X 9441238 9441238 single base substitution C T intron_variant BRCA-FR X 9442470 9442470 single base substitution G A intron_variant BRCA-FR X 9444839 9444839 single base substitution A T intron_variant BRCA-FR X 9451965 9451965 single base substitution A T intron_variant BRCA-FR X 9462853 9462853 single base substitution T G intron_variant BRCA-FR X 9462854 9462854 single base substitution C G intron_variant BRCA-FR X 9470341 9470341 single base substitution G A intron_variant BRCA-FR X 9472601 9472601 single base substitution T A intron_variant BRCA-FR X 9475299 9475299 single base substitution C T intron_variant BRCA-FR X 9483319 9483319 single base substitution T C intron_variant BRCA-FR X 9483780 9483780 single base substitution G A intron_variant BRCA-FR X 9494745 9494745 single base substitution A C intron_variant BRCA-FR X 9500745 9500745 single base substitution G C intron_variant BRCA-FR X 9500745 9500745 single base substitution G C upstream_gene_variant BRCA-FR X 9506015 9506015 single base substitution A T intron_variant BRCA-FR X 9511070 9511070 single base substitution G A intron_variant BRCA-FR X 9523390 9523390 single base substitution A C intron_variant BRCA-FR X 9528286 9528286 single base substitution C G intron_variant BRCA-FR X 9534019 9534019 single base substitution A G intron_variant BRCA-FR X 9538129 9538129 single base substitution C A intron_variant BRCA-FR X 9554516 9554516 single base substitution G T intron_variant BRCA-FR X 9555965 9555965 single base substitution C G intron_variant BRCA-FR X 9564714 9564714 single base substitution A G intron_variant BRCA-FR X 9566534 9566534 single base substitution C G intron_variant BRCA-FR X 9569813 9569813 single base substitution G A intron_variant BRCA-FR X 9577088 9577088 single base substitution G A intron_variant BRCA-FR X 9583083 9583083 single base substitution C T intron_variant BRCA-FR X 9587885 9587885 single base substitution G A intron_variant BRCA-FR X 9588514 9588514 single base substitution G A intron_variant BRCA-FR X 9590175 9590175 single base substitution A G intron_variant BRCA-FR X 9591186 9591186 single base substitution G C intron_variant BRCA-FR X 9597109 9597109 single base substitution T A intron_variant BRCA-FR X 9597346 9597346 single base substitution T A intron_variant BRCA-FR X 9601805 9601805 single base substitution C G intron_variant BRCA-FR X 9619927 9619927 single base substitution G A intron_variant BRCA-FR X 9623377 9623377 single base substitution C T downstream_gene_variant BRCA-FR X 9623377 9623377 single base substitution C T intron_variant BRCA-FR X 9624055 9624055 single base substitution T C downstream_gene_variant BRCA-FR X 9624055 9624055 single base substitution T C intron_variant BRCA-FR X 9626476 9626476 single base substitution G T downstream_gene_variant BRCA-FR X 9626476 9626476 single base substitution G T intron_variant BRCA-FR X 9627637 9627637 single base substitution C T intron_variant BRCA-FR X 9629354 9629354 single base substitution G C intron_variant BRCA-FR X 9629546 9629546 single base substitution C G intron_variant BRCA-FR X 9653223 9653223 single base substitution C T downstream_gene_variant BRCA-FR X 9653223 9653223 single base substitution C T intron_variant BRCA-FR X 9654615 9654615 single base substitution C T downstream_gene_variant BRCA-FR X 9654615 9654615 single base substitution C T intron_variant BRCA-FR X 9654756 9654756 single base substitution A T downstream_gene_variant BRCA-FR X 9654756 9654756 single base substitution A T intron_variant BRCA-FR X 9656641 9656641 single base substitution C T downstream_gene_variant BRCA-FR X 9656641 9656641 single base substitution C T intron_variant BRCA-FR X 9660017 9660017 single base substitution G T downstream_gene_variant BRCA-FR X 9660017 9660017 single base substitution G T intron_variant BRCA-FR X 9667347 9667347 single base substitution G T intron_variant BRCA-FR X 9670589 9670589 single base substitution C T intron_variant BRCA-FR X 9675926 9675926 single base substitution A C intron_variant BRCA-FR X 9677458 9677458 single base substitution A G intron_variant BRCA-FR X 9682945 9682945 single base substitution G A missense_variant G486R 1456G>A BRCA-FR X 9682945 9682945 single base substitution G A missense_variant G537R 1609G>A BRCA-UK X 9451545 9451545 single base substitution C A intron_variant BRCA-UK X 9470384 9470384 single base substitution C T intron_variant BRCA-UK X 9489696 9489696 single base substitution C T intron_variant BRCA-UK X 9528498 9528498 single base substitution G A intron_variant BRCA-UK X 9549239 9549239 single base substitution T A intron_variant BRCA-UK X 9560382 9560382 single base substitution C T intron_variant BRCA-UK X 9565814 9565814 single base substitution G A intron_variant BRCA-UK X 9580837 9580837 single base substitution C G intron_variant BRCA-UK X 9620587 9620587 single base substitution C T intron_variant BRCA-UK X 9648103 9648103 single base substitution G C intron_variant BRCA-UK X 9649531 9649531 single base substitution G C intron_variant BRCA-UK X 9681227 9681227 single base substitution C T intron_variant BRCA-UK X 9685331 9685331 single base substitution C T 3_prime_UTR_variant BRCA-UK X 9685331 9685331 single base substitution C T downstream_gene_variant BRCA-UK X 9688628 9688628 single base substitution C T downstream_gene_variant BRCA-US X 9621720 9621720 single base substitution C T 5_prime_UTR_variant BRCA-US X 9621720 9621720 single base substitution C T intron_variant BRCA-US X 9621720 9621720 single base substitution C T stop_gained R32* 94C>T BRCA-US X 9659623 9659623 single base substitution T C downstream_gene_variant BRCA-US X 9659623 9659623 single base substitution T C synonymous_variant N156N 468T>C BRCA-US X 9659623 9659623 single base substitution T C synonymous_variant N207N 621T>C BRCA-US X 9659627 9659627 single base substitution G A downstream_gene_variant BRCA-US X 9659627 9659627 single base substitution G A missense_variant A158T 472G>A BRCA-US X 9659627 9659627 single base substitution G A missense_variant A209T 625G>A BRCA-US X 9661204 9661204 single base substitution T C synonymous_variant L252L 754T>C BRCA-US X 9661204 9661204 single base substitution T C synonymous_variant L303L 907T>C BRCA-US X 9661244 9661244 single base substitution C T missense_variant T265M 794C>T BRCA-US X 9661244 9661244 single base substitution C T missense_variant T316M 947C>T BRCA-US X 9661417 9661417 single base substitution G T missense_variant W286C 858G>T BRCA-US X 9661417 9661417 single base substitution G T missense_variant W337C 1011G>T BRCA-US X 9683009 9683009 single base substitution G T missense_variant G507V 1520G>T BRCA-US X 9683009 9683009 single base substitution G T missense_variant G558V 1673G>T BTCA-JP X 9622195 9622195 deletion of <=200bp A - intron_variant BTCA-JP X 9622205 9622205 single base substitution A G intron_variant BTCA-JP X 9652225 9652225 single base substitution C T downstream_gene_variant BTCA-JP X 9652225 9652225 single base substitution C T synonymous_variant N118N 354C>T BTCA-JP X 9652225 9652225 single base substitution C T synonymous_variant N67N 201C>T BTCA-JP X 9656284 9656284 single base substitution G A downstream_gene_variant BTCA-JP X 9656284 9656284 single base substitution G A synonymous_variant V144V 432G>A BTCA-JP X 9656284 9656284 single base substitution G A synonymous_variant V195V 585G>A BTCA-JP X 9656411 9656411 single base substitution A G downstream_gene_variant BTCA-JP X 9656411 9656411 single base substitution A G intron_variant BTCA-JP X 9659492 9659492 single base substitution A G downstream_gene_variant BTCA-JP X 9659492 9659492 single base substitution A G intron_variant BTCA-JP X 9659495 9659495 single base substitution G A downstream_gene_variant BTCA-JP X 9659495 9659495 single base substitution G A intron_variant BTCA-JP X 9659774 9659774 single base substitution C G downstream_gene_variant BTCA-JP X 9659774 9659774 single base substitution C G intron_variant BTCA-JP X 9679872 9679872 single base substitution C T intron_variant CESC-US X 9660204 9660204 single base substitution G A downstream_gene_variant CESC-US X 9660204 9660204 single base substitution G A synonymous_variant G216G 648G>A CESC-US X 9660204 9660204 single base substitution G A synonymous_variant G267G 801G>A CESC-US X 9673058 9673058 single base substitution G C missense_variant Q329H 987G>C CESC-US X 9673058 9673058 single base substitution G C missense_variant Q380H 1140G>C CLLE-ES X 9447946 9447946 single base substitution G A intron_variant CLLE-ES X 9450674 9450674 single base substitution C A intron_variant CLLE-ES X 9452533 9452533 single base substitution A G intron_variant CLLE-ES X 9463764 9463764 single base substitution C A intron_variant CLLE-ES X 9467164 9467164 single base substitution G C intron_variant CLLE-ES X 9483370 9483370 single base substitution G A intron_variant CLLE-ES X 9485340 9485340 single base substitution C G intron_variant CLLE-ES X 9500533 9500533 single base substitution G A intron_variant CLLE-ES X 9500533 9500533 single base substitution G A upstream_gene_variant CLLE-ES X 9508491 9508491 single base substitution C A intron_variant CLLE-ES X 9516571 9516571 single base substitution A G intron_variant CLLE-ES X 9528361 9528361 single base substitution C A intron_variant CLLE-ES X 9531165 9531165 single base substitution G A intron_variant CLLE-ES X 9537235 9537235 single base substitution T C intron_variant CLLE-ES X 9552755 9552755 single base substitution A G intron_variant CLLE-ES X 9569780 9569780 single base substitution T A intron_variant CLLE-ES X 9591303 9591303 single base substitution A T intron_variant CLLE-ES X 9596669 9596669 single base substitution C T intron_variant CLLE-ES X 9619135 9619135 single base substitution G A intron_variant CLLE-ES X 9623233 9623233 single base substitution G T downstream_gene_variant CLLE-ES X 9623233 9623233 single base substitution G T intron_variant CLLE-ES X 9634954 9634954 single base substitution A G intron_variant CLLE-ES X 9645696 9645696 single base substitution T C intron_variant CLLE-ES X 9646969 9646969 single base substitution A G intron_variant CLLE-ES X 9651118 9651118 single base substitution C T intron_variant CLLE-ES X 9659678 9659678 single base substitution A G downstream_gene_variant CLLE-ES X 9659678 9659678 single base substitution A G missense_variant T175A 523A>G CLLE-ES X 9659678 9659678 single base substitution A G missense_variant T226A 676A>G CLLE-ES X 9685037 9685037 single base substitution C A 3_prime_UTR_variant CLLE-ES X 9685037 9685037 single base substitution C A downstream_gene_variant CLLE-ES X 9686904 9686904 single base substitution C T 3_prime_UTR_variant CLLE-ES X 9686904 9686904 single base substitution C T downstream_gene_variant COAD-US X 9622289 9622289 single base substitution G A 5_prime_UTR_variant COAD-US X 9622289 9622289 single base substitution G A synonymous_variant P46P 138G>A COAD-US X 9656110 9656110 single base substitution C T downstream_gene_variant COAD-US X 9656110 9656110 single base substitution C T synonymous_variant A137A 411C>T COAD-US X 9656110 9656110 single base substitution C T synonymous_variant A86A 258C>T COAD-US X 9660202 9660202 deletion of <=200bp G - downstream_gene_variant COAD-US X 9660202 9660202 deletion of <=200bp G - frameshift_variant G216 COAD-US X 9660202 9660202 deletion of <=200bp G - frameshift_variant G267 COCA-CN X 9652266 9652266 single base substitution C T downstream_gene_variant COCA-CN X 9652266 9652266 single base substitution C T intron_variant COCA-CN X 9656071 9656071 single base substitution C T downstream_gene_variant COCA-CN X 9656071 9656071 single base substitution C T synonymous_variant F124F 372C>T COCA-CN X 9656071 9656071 single base substitution C T synonymous_variant F73F 219C>T COCA-CN X 9659495 9659495 single base substitution G A downstream_gene_variant COCA-CN X 9659495 9659495 single base substitution G A intron_variant COCA-CN X 9659526 9659526 single base substitution C A downstream_gene_variant COCA-CN X 9659526 9659526 single base substitution C A intron_variant COCA-CN X 9659549 9659549 single base substitution C A downstream_gene_variant COCA-CN X 9659549 9659549 single base substitution C A intron_variant COCA-CN X 9659863 9659863 single base substitution G A downstream_gene_variant COCA-CN X 9659863 9659863 single base substitution G A intron_variant COCA-CN X 9661370 9661370 single base substitution G A missense_variant A271T 811G>A COCA-CN X 9661370 9661370 single base substitution G A missense_variant A322T 964G>A COCA-CN X 9661411 9661411 single base substitution G A synonymous_variant L284L 852G>A COCA-CN X 9661411 9661411 single base substitution G A synonymous_variant L335L 1005G>A COCA-CN X 9677638 9677638 single base substitution G A intron_variant COCA-CN X 9679697 9679697 single base substitution G A missense_variant V445I 1333G>A COCA-CN X 9679697 9679697 single base substitution G A missense_variant V496I 1486G>A COCA-CN X 9679796 9679796 single base substitution G A missense_variant V478I 1432G>A COCA-CN X 9679796 9679796 single base substitution G A missense_variant V529I 1585G>A EOPC-DE X 9526581 9526581 single base substitution A T intron_variant EOPC-DE X 9601498 9601498 single base substitution C T intron_variant ESCA-CN X 9622450 9622450 insertion of <=200bp - AGA downstream_gene_variant ESCA-CN X 9622450 9622450 insertion of <=200bp - AGA intron_variant ESCA-CN X 9656193 9656193 single base substitution C T downstream_gene_variant ESCA-CN X 9656193 9656193 single base substitution C T missense_variant A114V 341C>T ESCA-CN X 9656193 9656193 single base substitution C T missense_variant A165V 494C>T ESCA-CN X 9684135 9684135 single base substitution A C intron_variant ESCA-CN X 9684502 9684502 single base substitution G C 3_prime_UTR_variant ESCA-CN X 9684502 9684502 single base substitution G C downstream_gene_variant GBM-US X 9656243 9656243 single base substitution G A downstream_gene_variant GBM-US X 9656243 9656243 single base substitution G A missense_variant V131I 391G>A GBM-US X 9656243 9656243 single base substitution G A missense_variant V182I 544G>A KIRC-US X 9660211 9660211 single base substitution A G downstream_gene_variant KIRC-US X 9660211 9660211 single base substitution A G missense_variant T219A 655A>G KIRC-US X 9660211 9660211 single base substitution A G missense_variant T270A 808A>G KIRC-US X 9677737 9677737 single base substitution C A missense_variant T408N 1223C>A KIRC-US X 9677737 9677737 single base substitution C A missense_variant T459N 1376C>A KIRP-US X 9683003 9683003 single base substitution C T missense_variant A505V 1514C>T KIRP-US X 9683003 9683003 single base substitution C T missense_variant A556V 1667C>T LAML-KR X 9556660 9556660 single base substitution C T intron_variant LAML-KR X 9660365 9660365 single base substitution C G downstream_gene_variant LAML-KR X 9660365 9660365 single base substitution C G intron_variant LICA-FR X 9440707 9440707 single base substitution A G intron_variant LICA-FR X 9465809 9465809 single base substitution C T intron_variant LICA-FR X 9491763 9491763 single base substitution G T intron_variant LICA-FR X 9536529 9536529 single base substitution G A intron_variant LICA-FR X 9538719 9538719 deletion of <=200bp T - intron_variant LICA-FR X 9587923 9587923 single base substitution C T intron_variant LICA-FR X 9588948 9588948 single base substitution G A intron_variant LICA-FR X 9616904 9616904 single base substitution A T downstream_gene_variant LICA-FR X 9616904 9616904 single base substitution A T intron_variant LICA-FR X 9631801 9631802 deletion of <=200bp AA - intron_variant LICA-FR X 9675590 9675590 single base substitution C T intron_variant LICA-FR X 9677696 9677696 single base substitution G A synonymous_variant V394V 1182G>A LICA-FR X 9677696 9677696 single base substitution G A synonymous_variant V445V 1335G>A LICA-FR X 9678257 9678257 deletion of <=200bp A - intron_variant LICA-FR X 9679693 9679693 single base substitution A T synonymous_variant R443R 1329A>T LICA-FR X 9679693 9679693 single base substitution A T synonymous_variant R494R 1482A>T LICA-FR X 9689514 9689514 single base substitution T C downstream_gene_variant LIHC-US X 9677338 9677338 single base substitution C G synonymous_variant S378S 1134C>G LIHC-US X 9677338 9677338 single base substitution C G synonymous_variant S429S 1287C>G LINC-JP X 9435066 9435066 single base substitution A C intron_variant LINC-JP X 9435094 9435094 single base substitution A C intron_variant LINC-JP X 9471051 9471051 single base substitution G A intron_variant LINC-JP X 9499893 9499893 single base substitution C T intron_variant LINC-JP X 9499893 9499893 single base substitution C T upstream_gene_variant LINC-JP X 9553390 9553390 single base substitution G C intron_variant LINC-JP X 9563433 9563433 single base substitution C T intron_variant LINC-JP X 9563434 9563434 single base substitution G T intron_variant LINC-JP X 9578911 9578911 single base substitution C T intron_variant LINC-JP X 9602921 9602921 single base substitution C G intron_variant LINC-JP X 9602921 9602921 single base substitution C G upstream_gene_variant LINC-JP X 9609573 9609573 single base substitution A G intron_variant LINC-JP X 9612564 9612564 single base substitution A G intron_variant LINC-JP X 9616267 9616267 single base substitution C G downstream_gene_variant LINC-JP X 9616267 9616267 single base substitution C G intron_variant LINC-JP X 9622285 9622285 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LINC-JP X 9622285 9622285 single base substitution C T missense_variant S45L 134C>T LINC-JP X 9622794 9622794 single base substitution G A downstream_gene_variant LINC-JP X 9622794 9622794 single base substitution G A intron_variant LINC-JP X 9623356 9623356 single base substitution C T downstream_gene_variant LINC-JP X 9623356 9623356 single base substitution C T intron_variant LINC-JP X 9630617 9630617 single base substitution G T intron_variant LINC-JP X 9644567 9644567 single base substitution T C intron_variant LINC-JP X 9650805 9650805 single base substitution A G intron_variant LINC-JP X 9652637 9652637 single base substitution T A downstream_gene_variant LINC-JP X 9652637 9652637 single base substitution T A intron_variant LINC-JP X 9652638 9652638 single base substitution T A downstream_gene_variant LINC-JP X 9652638 9652638 single base substitution T A intron_variant LINC-JP X 9660265 9660265 single base substitution A G downstream_gene_variant LINC-JP X 9660265 9660265 single base substitution A G missense_variant N237D 709A>G LINC-JP X 9660265 9660265 single base substitution A G missense_variant N288D 862A>G LINC-JP X 9673784 9673784 single base substitution G A intron_variant LIRI-JP X 9428978 9428978 single base substitution G A upstream_gene_variant LIRI-JP X 9430355 9430355 single base substitution T C upstream_gene_variant LIRI-JP X 9432071 9432071 single base substitution A T intron_variant LIRI-JP X 9432071 9432071 single base substitution A T upstream_gene_variant LIRI-JP X 9432094 9432094 single base substitution A C intron_variant LIRI-JP X 9432094 9432094 single base substitution A C upstream_gene_variant LIRI-JP X 9432106 9432106 single base substitution A C intron_variant LIRI-JP X 9432106 9432106 single base substitution A C upstream_gene_variant LIRI-JP X 9435912 9435912 single base substitution G T intron_variant LIRI-JP X 9443662 9443662 single base substitution T C intron_variant LIRI-JP X 9446019 9446019 single base substitution T A intron_variant LIRI-JP X 9446723 9446723 single base substitution A C intron_variant LIRI-JP X 9447503 9447503 single base substitution A G intron_variant LIRI-JP X 9448031 9448031 single base substitution C T intron_variant LIRI-JP X 9458681 9458681 single base substitution G A intron_variant LIRI-JP X 9458814 9458814 single base substitution A G intron_variant LIRI-JP X 9459755 9459755 single base substitution T A intron_variant LIRI-JP X 9460093 9460093 single base substitution A G intron_variant LIRI-JP X 9466726 9466726 single base substitution A C intron_variant LIRI-JP X 9474676 9474676 single base substitution C A intron_variant LIRI-JP X 9476017 9476017 single base substitution A C intron_variant LIRI-JP X 9479717 9479717 single base substitution C A intron_variant LIRI-JP X 9480160 9480160 single base substitution A G intron_variant LIRI-JP X 9482387 9482387 single base substitution T A intron_variant LIRI-JP X 9483329 9483329 single base substitution A G intron_variant LIRI-JP X 9488033 9488033 single base substitution A G intron_variant LIRI-JP X 9493528 9493528 single base substitution A G intron_variant LIRI-JP X 9495127 9495127 single base substitution G A intron_variant LIRI-JP X 9495722 9495722 single base substitution C G intron_variant LIRI-JP X 9495808 9495808 single base substitution C A intron_variant LIRI-JP X 9496515 9496515 single base substitution T G intron_variant LIRI-JP X 9497499 9497499 single base substitution A G intron_variant LIRI-JP X 9500515 9500515 single base substitution C G intron_variant LIRI-JP X 9500515 9500515 single base substitution C G upstream_gene_variant LIRI-JP X 9501497 9501497 single base substitution G A intron_variant LIRI-JP X 9501497 9501497 single base substitution G A upstream_gene_variant LIRI-JP X 9504274 9504274 single base substitution G A intron_variant LIRI-JP X 9506414 9506414 single base substitution A C intron_variant LIRI-JP X 9506429 9506429 single base substitution A G intron_variant LIRI-JP X 9506628 9506628 insertion of <=200bp - T intron_variant LIRI-JP X 9511911 9511911 single base substitution G A intron_variant LIRI-JP X 9513327 9513327 single base substitution A G intron_variant LIRI-JP X 9515323 9515323 single base substitution C T intron_variant LIRI-JP X 9519198 9519198 single base substitution C T intron_variant LIRI-JP X 9519624 9519624 single base substitution A T intron_variant LIRI-JP X 9523152 9523152 single base substitution G A intron_variant LIRI-JP X 9523575 9523575 single base substitution C A intron_variant LIRI-JP X 9526789 9526789 single base substitution T C intron_variant LIRI-JP X 9527578 9527578 single base substitution T C intron_variant LIRI-JP X 9527657 9527657 single base substitution T C intron_variant LIRI-JP X 9528092 9528092 single base substitution A G intron_variant LIRI-JP X 9528835 9528835 single base substitution G T intron_variant LIRI-JP X 9529318 9529318 single base substitution T A intron_variant LIRI-JP X 9531620 9531620 single base substitution C A intron_variant LIRI-JP X 9534597 9534597 single base substitution A C intron_variant LIRI-JP X 9535192 9535192 single base substitution G A intron_variant LIRI-JP X 9539699 9539699 single base substitution A G intron_variant LIRI-JP X 9542738 9542738 single base substitution G T intron_variant LIRI-JP X 9542913 9542913 single base substitution A G intron_variant LIRI-JP X 9544126 9544126 single base substitution G A intron_variant LIRI-JP X 9545062 9545062 single base substitution A C intron_variant LIRI-JP X 9546346 9546346 single base substitution G A intron_variant LIRI-JP X 9546657 9546657 single base substitution T A intron_variant LIRI-JP X 9546761 9546761 single base substitution A T intron_variant LIRI-JP X 9547704 9547704 single base substitution G T intron_variant LIRI-JP X 9551897 9551897 single base substitution A G intron_variant LIRI-JP X 9557017 9557017 single base substitution A G intron_variant LIRI-JP X 9558479 9558480 deletion of <=200bp TA - intron_variant LIRI-JP X 9560287 9560287 single base substitution C T intron_variant LIRI-JP X 9560530 9560530 single base substitution G A intron_variant LIRI-JP X 9561827 9561827 single base substitution C A intron_variant LIRI-JP X 9561828 9561828 single base substitution C A intron_variant LIRI-JP X 9563341 9563341 single base substitution G T intron_variant LIRI-JP X 9563447 9563447 single base substitution A G intron_variant LIRI-JP X 9564461 9564461 single base substitution T A intron_variant LIRI-JP X 9564957 9564957 single base substitution G C intron_variant LIRI-JP X 9565704 9565704 single base substitution A G intron_variant LIRI-JP X 9567821 9567821 single base substitution G A intron_variant LIRI-JP X 9568355 9568355 single base substitution G A intron_variant LIRI-JP X 9569796 9569796 single base substitution A G intron_variant LIRI-JP X 9570013 9570013 single base substitution G A intron_variant LIRI-JP X 9570652 9570652 single base substitution A G intron_variant LIRI-JP X 9571586 9571586 single base substitution G A intron_variant LIRI-JP X 9574892 9574892 single base substitution T G intron_variant LIRI-JP X 9574932 9574932 single base substitution C G intron_variant LIRI-JP X 9578407 9578407 single base substitution A G intron_variant LIRI-JP X 9578874 9578874 single base substitution G C intron_variant LIRI-JP X 9581469 9581469 single base substitution A T intron_variant LIRI-JP X 9584739 9584739 single base substitution A C intron_variant LIRI-JP X 9584830 9584830 single base substitution A G intron_variant LIRI-JP X 9588196 9588196 single base substitution A G intron_variant LIRI-JP X 9588224 9588224 single base substitution A C intron_variant LIRI-JP X 9588296 9588296 single base substitution G T intron_variant LIRI-JP X 9589082 9589082 single base substitution T C intron_variant LIRI-JP X 9590025 9590025 single base substitution T C intron_variant LIRI-JP X 9593184 9593184 single base substitution C G intron_variant LIRI-JP X 9595282 9595282 single base substitution T C intron_variant LIRI-JP X 9602419 9602419 single base substitution A G intron_variant LIRI-JP X 9602685 9602685 single base substitution C A intron_variant LIRI-JP X 9604128 9604128 single base substitution C G intron_variant LIRI-JP X 9604128 9604128 single base substitution C G upstream_gene_variant LIRI-JP X 9604570 9604570 single base substitution T C intron_variant LIRI-JP X 9604570 9604570 single base substitution T C upstream_gene_variant LIRI-JP X 9607709 9607709 single base substitution T C intron_variant LIRI-JP X 9607709 9607709 single base substitution T C upstream_gene_variant LIRI-JP X 9611426 9611426 single base substitution A G intron_variant LIRI-JP X 9612195 9612195 single base substitution A G intron_variant LIRI-JP X 9614275 9614275 single base substitution T G downstream_gene_variant LIRI-JP X 9614275 9614275 single base substitution T G intron_variant LIRI-JP X 9615540 9615540 single base substitution T C downstream_gene_variant LIRI-JP X 9615540 9615540 single base substitution T C intron_variant LIRI-JP X 9622171 9622171 single base substitution G T intron_variant LIRI-JP X 9625452 9625452 single base substitution T C downstream_gene_variant LIRI-JP X 9625452 9625452 single base substitution T C intron_variant LIRI-JP X 9628685 9628685 single base substitution C G intron_variant LIRI-JP X 9631537 9631537 single base substitution G T intron_variant LIRI-JP X 9633437 9633437 single base substitution A G intron_variant LIRI-JP X 9634295 9634295 single base substitution T C intron_variant LIRI-JP X 9635398 9635398 single base substitution G T intron_variant LIRI-JP X 9637720 9637720 single base substitution G A intron_variant LIRI-JP X 9645100 9645102 deletion of <=200bp TTC - intron_variant LIRI-JP X 9649063 9649063 single base substitution A C intron_variant LIRI-JP X 9649215 9649215 single base substitution T C intron_variant LIRI-JP X 9649591 9649591 single base substitution G A intron_variant LIRI-JP X 9649807 9649807 single base substitution A G intron_variant LIRI-JP X 9653947 9653947 single base substitution G A downstream_gene_variant LIRI-JP X 9653947 9653947 single base substitution G A intron_variant LIRI-JP X 9657266 9657266 single base substitution A G downstream_gene_variant LIRI-JP X 9657266 9657266 single base substitution A G intron_variant LIRI-JP X 9658576 9658576 single base substitution T G downstream_gene_variant LIRI-JP X 9658576 9658576 single base substitution T G intron_variant LIRI-JP X 9661307 9661307 single base substitution C T intron_variant LIRI-JP X 9661471 9661471 single base substitution C T intron_variant LIRI-JP X 9661657 9661657 single base substitution C T intron_variant LIRI-JP X 9667469 9667469 single base substitution C T intron_variant LIRI-JP X 9668459 9668459 single base substitution G A intron_variant LIRI-JP X 9670378 9670378 single base substitution A G intron_variant LIRI-JP X 9677285 9677285 single base substitution C T splice_region_variant LIRI-JP X 9679596 9679596 single base substitution A G intron_variant LIRI-JP X 9681444 9681444 single base substitution C T intron_variant LIRI-JP X 9686338 9686338 single base substitution G A 3_prime_UTR_variant LIRI-JP X 9686338 9686338 single base substitution G A downstream_gene_variant LIRI-JP X 9687388 9687388 single base substitution T G 3_prime_UTR_variant LIRI-JP X 9687388 9687388 single base substitution T G downstream_gene_variant LIRI-JP X 9688608 9688608 single base substitution T G downstream_gene_variant LIRI-JP X 9688887 9688887 single base substitution T C downstream_gene_variant LIRI-JP X 9689680 9689680 single base substitution C T downstream_gene_variant LUSC-KR X 9439437 9439437 single base substitution C T intron_variant LUSC-KR X 9444663 9444663 single base substitution A T intron_variant LUSC-KR X 9449586 9449586 single base substitution G T intron_variant LUSC-KR X 9454251 9454251 single base substitution C T intron_variant LUSC-KR X 9458359 9458359 single base substitution G T intron_variant LUSC-KR X 9481375 9481375 single base substitution G A intron_variant LUSC-KR X 9485913 9485913 single base substitution A T intron_variant LUSC-KR X 9494975 9494975 single base substitution C T intron_variant LUSC-KR X 9498842 9498842 single base substitution T G intron_variant LUSC-KR X 9498842 9498842 single base substitution T G upstream_gene_variant LUSC-KR X 9509925 9509925 single base substitution G T intron_variant LUSC-KR X 9509926 9509926 single base substitution G T intron_variant LUSC-KR X 9514182 9514182 single base substitution G C intron_variant LUSC-KR X 9514494 9514494 single base substitution C T intron_variant LUSC-KR X 9526173 9526173 single base substitution G C intron_variant LUSC-KR X 9536383 9536383 single base substitution G A intron_variant LUSC-KR X 9537084 9537084 single base substitution A G intron_variant LUSC-KR X 9540237 9540237 single base substitution T A intron_variant LUSC-KR X 9543287 9543287 single base substitution C T intron_variant LUSC-KR X 9544431 9544431 single base substitution C T intron_variant LUSC-KR X 9547448 9547448 single base substitution A G intron_variant LUSC-KR X 9551376 9551376 single base substitution C T intron_variant LUSC-KR X 9555574 9555574 single base substitution G C intron_variant LUSC-KR X 9559936 9559936 single base substitution G A intron_variant LUSC-KR X 9564192 9564192 single base substitution A T intron_variant LUSC-KR X 9571591 9571591 single base substitution G A intron_variant LUSC-KR X 9571850 9571850 single base substitution G T intron_variant LUSC-KR X 9573691 9573691 single base substitution G T intron_variant LUSC-KR X 9583388 9583388 single base substitution G C intron_variant LUSC-KR X 9592898 9592898 single base substitution A T intron_variant LUSC-KR X 9607084 9607084 single base substitution C T intron_variant LUSC-KR X 9607084 9607084 single base substitution C T upstream_gene_variant LUSC-KR X 9609591 9609591 single base substitution G T intron_variant LUSC-KR X 9610778 9610778 single base substitution C T intron_variant LUSC-KR X 9613005 9613005 single base substitution G C exon_variant LUSC-KR X 9613005 9613005 single base substitution G C intron_variant LUSC-KR X 9620903 9620903 single base substitution A G intron_variant LUSC-KR X 9637244 9637244 single base substitution G T intron_variant LUSC-KR X 9661165 9661165 single base substitution G T intron_variant LUSC-KR X 9661546 9661546 single base substitution T C intron_variant LUSC-KR X 9665368 9665368 single base substitution C A intron_variant LUSC-KR X 9677598 9677598 single base substitution C G intron_variant LUSC-KR X 9678530 9678530 single base substitution A C intron_variant LUSC-KR X 9680408 9680408 single base substitution C T intron_variant MALY-DE X 9428649 9428649 single base substitution A T upstream_gene_variant MALY-DE X 9429763 9429766 deletion of <=200bp CACA - upstream_gene_variant MALY-DE X 9430678 9430678 single base substitution A C upstream_gene_variant MALY-DE X 9454280 9454280 deletion of <=200bp T - intron_variant MALY-DE X 9460340 9460340 single base substitution G A intron_variant MALY-DE X 9461826 9461826 insertion of <=200bp - A intron_variant MALY-DE X 9461903 9461903 single base substitution A G intron_variant MALY-DE X 9462629 9462629 single base substitution A T intron_variant MALY-DE X 9463261 9463261 single base substitution C T intron_variant MALY-DE X 9464501 9464501 single base substitution T G intron_variant MALY-DE X 9471152 9471152 single base substitution A G intron_variant MALY-DE X 9475773 9475773 single base substitution C G intron_variant MALY-DE X 9480555 9480555 deletion of <=200bp T - intron_variant MALY-DE X 9482375 9482375 insertion of <=200bp - T intron_variant MALY-DE X 9484925 9484925 single base substitution C T intron_variant MALY-DE X 9486310 9486310 single base substitution C T intron_variant MALY-DE X 9487153 9487153 single base substitution G A intron_variant MALY-DE X 9494013 9494013 single base substitution G T intron_variant MALY-DE X 9495519 9495519 single base substitution T A intron_variant MALY-DE X 9500440 9500440 single base substitution C T intron_variant MALY-DE X 9500440 9500440 single base substitution C T upstream_gene_variant MALY-DE X 9500652 9500652 single base substitution C T intron_variant MALY-DE X 9500652 9500652 single base substitution C T upstream_gene_variant MALY-DE X 9506363 9506363 single base substitution A C intron_variant MALY-DE X 9517003 9517003 single base substitution G C intron_variant MALY-DE X 9528626 9528626 single base substitution A G intron_variant MALY-DE X 9529311 9529311 single base substitution G T intron_variant MALY-DE X 9534161 9534161 single base substitution G T intron_variant MALY-DE X 9547258 9547258 single base substitution A G intron_variant MALY-DE X 9556915 9556915 insertion of <=200bp - T intron_variant MALY-DE X 9558067 9558067 single base substitution A T intron_variant MALY-DE X 9558260 9558260 single base substitution C T intron_variant MALY-DE X 9558413 9558413 single base substitution T A intron_variant MALY-DE X 9560668 9560668 single base substitution C A intron_variant MALY-DE X 9561834 9561834 single base substitution C G intron_variant MALY-DE X 9565116 9565116 single base substitution A C intron_variant MALY-DE X 9573637 9573637 single base substitution C T intron_variant MALY-DE X 9577452 9577453 deletion of <=200bp GT - intron_variant MALY-DE X 9591150 9591150 single base substitution G T intron_variant MALY-DE X 9592114 9592114 single base substitution A T intron_variant MALY-DE X 9592151 9592151 single base substitution T C intron_variant MALY-DE X 9592166 9592166 single base substitution T A intron_variant MALY-DE X 9592168 9592168 single base substitution C G intron_variant MALY-DE X 9592247 9592247 single base substitution T C intron_variant MALY-DE X 9592321 9592321 single base substitution T A intron_variant MALY-DE X 9599040 9599041 deletion of <=200bp AT - intron_variant MALY-DE X 9601939 9601939 single base substitution G T intron_variant MALY-DE X 9601941 9601941 single base substitution A C intron_variant MALY-DE X 9608932 9608932 single base substitution A G intron_variant MALY-DE X 9609632 9609632 single base substitution A G intron_variant MALY-DE X 9618394 9618394 single base substitution T C downstream_gene_variant MALY-DE X 9618394 9618394 single base substitution T C intron_variant MALY-DE X 9618475 9618475 single base substitution G C intron_variant MALY-DE X 9626722 9626722 single base substitution A C downstream_gene_variant MALY-DE X 9626722 9626722 single base substitution A C intron_variant MALY-DE X 9626972 9626972 single base substitution G C downstream_gene_variant MALY-DE X 9626972 9626972 single base substitution G C intron_variant MALY-DE X 9630142 9630142 single base substitution G T intron_variant MALY-DE X 9630538 9630538 single base substitution G A intron_variant MALY-DE X 9630832 9630832 insertion of <=200bp - A intron_variant MALY-DE X 9631250 9631250 single base substitution C G intron_variant MALY-DE X 9644170 9644170 single base substitution A G intron_variant MALY-DE X 9682752 9682752 single base substitution C T intron_variant MALY-DE X 9685754 9685754 single base substitution C T 3_prime_UTR_variant MALY-DE X 9685754 9685754 single base substitution C T downstream_gene_variant MELA-AU X 9426387 9426387 single base substitution C T upstream_gene_variant MELA-AU X 9426404 9426404 single base substitution C T upstream_gene_variant MELA-AU X 9426610 9426610 single base substitution G A upstream_gene_variant MELA-AU X 9426905 9426905 single base substitution C T upstream_gene_variant MELA-AU X 9427314 9427314 single base substitution G A upstream_gene_variant MELA-AU X 9427406 9427406 single base substitution C T upstream_gene_variant MELA-AU X 9428015 9428015 single base substitution G A upstream_gene_variant MELA-AU X 9428108 9428108 single base substitution C T upstream_gene_variant MELA-AU X 9428242 9428242 single base substitution G A upstream_gene_variant MELA-AU X 9428649 9428649 single base substitution A T upstream_gene_variant MELA-AU X 9429053 9429053 single base substitution C T upstream_gene_variant MELA-AU X 9429055 9429055 single base substitution C T upstream_gene_variant MELA-AU X 9429692 9429692 single base substitution C T upstream_gene_variant MELA-AU X 9429848 9429848 single base substitution C T upstream_gene_variant MELA-AU X 9429939 9429939 single base substitution G A upstream_gene_variant MELA-AU X 9430446 9430446 insertion of <=200bp - AC upstream_gene_variant MELA-AU X 9430616 9430616 single base substitution C T upstream_gene_variant MELA-AU X 9431001 9431001 single base substitution C T upstream_gene_variant MELA-AU X 9431956 9431956 single base substitution A C intron_variant MELA-AU X 9431956 9431956 single base substitution A C upstream_gene_variant MELA-AU X 9431958 9431958 single base substitution C A intron_variant MELA-AU X 9431958 9431958 single base substitution C A upstream_gene_variant MELA-AU X 9432584 9432584 single base substitution G A intron_variant MELA-AU X 9432584 9432584 single base substitution G A upstream_gene_variant MELA-AU X 9434778 9434778 single base substitution C T intron_variant MELA-AU X 9435000 9435000 single base substitution G A intron_variant MELA-AU X 9435537 9435537 single base substitution C T intron_variant MELA-AU X 9435697 9435697 single base substitution C T intron_variant MELA-AU X 9435717 9435717 single base substitution C T intron_variant MELA-AU X 9437028 9437028 single base substitution A T intron_variant MELA-AU X 9437205 9437208 deletion of <=200bp TTTG - intron_variant MELA-AU X 9438411 9438411 single base substitution C T intron_variant MELA-AU X 9438604 9438604 single base substitution C T intron_variant MELA-AU X 9439021 9439021 single base substitution C T intron_variant MELA-AU X 9439709 9439709 single base substitution G A intron_variant MELA-AU X 9441296 9441296 single base substitution C T intron_variant MELA-AU X 9441323 9441323 single base substitution C T intron_variant MELA-AU X 9441334 9441334 single base substitution G A intron_variant MELA-AU X 9443922 9443922 single base substitution C T intron_variant MELA-AU X 9444817 9444817 insertion of <=200bp - TTT intron_variant MELA-AU X 9444824 9444824 single base substitution G A intron_variant MELA-AU X 9444947 9444947 single base substitution A T intron_variant MELA-AU X 9446422 9446422 single base substitution C T intron_variant MELA-AU X 9446889 9446889 single base substitution C T intron_variant MELA-AU X 9447261 9447261 single base substitution G A intron_variant MELA-AU X 9447901 9447901 single base substitution A C intron_variant MELA-AU X 9448380 9448380 single base substitution G A intron_variant MELA-AU X 9449000 9449000 single base substitution C T intron_variant MELA-AU X 9449306 9449306 single base substitution G A intron_variant MELA-AU X 9449588 9449588 single base substitution T G intron_variant MELA-AU X 9450210 9450210 single base substitution C T intron_variant MELA-AU X 9450379 9450379 single base substitution T C intron_variant MELA-AU X 9452466 9452466 single base substitution C T intron_variant MELA-AU X 9453292 9453292 single base substitution C T intron_variant MELA-AU X 9453340 9453340 single base substitution C T intron_variant MELA-AU X 9454663 9454663 single base substitution C T intron_variant MELA-AU X 9455241 9455241 single base substitution C T intron_variant MELA-AU X 9456481 9456481 single base substitution C T intron_variant MELA-AU X 9456642 9456642 single base substitution G A intron_variant MELA-AU X 9457099 9457099 single base substitution C T intron_variant MELA-AU X 9457752 9457752 single base substitution C T intron_variant MELA-AU X 9458116 9458116 single base substitution C T intron_variant MELA-AU X 9458377 9458377 single base substitution G A intron_variant MELA-AU X 9460203 9460203 single base substitution G A intron_variant MELA-AU X 9460611 9460611 single base substitution C T intron_variant MELA-AU X 9460950 9460950 single base substitution G A intron_variant MELA-AU X 9460973 9460973 single base substitution G A intron_variant MELA-AU X 9460998 9460998 single base substitution G A intron_variant MELA-AU X 9461272 9461272 single base substitution C T intron_variant MELA-AU X 9461320 9461320 single base substitution C T intron_variant MELA-AU X 9461399 9461399 single base substitution G A intron_variant MELA-AU X 9461996 9461996 single base substitution C T intron_variant MELA-AU X 9462142 9462142 single base substitution G A intron_variant MELA-AU X 9462729 9462729 single base substitution C T intron_variant MELA-AU X 9462756 9462756 single base substitution T G intron_variant MELA-AU X 9463396 9463396 single base substitution C T intron_variant MELA-AU X 9463749 9463749 single base substitution C T intron_variant MELA-AU X 9464845 9464845 single base substitution A T intron_variant MELA-AU X 9465143 9465143 single base substitution G A intron_variant MELA-AU X 9465196 9465196 single base substitution C T intron_variant MELA-AU X 9465332 9465332 single base substitution C T intron_variant MELA-AU X 9466101 9466101 single base substitution C T intron_variant MELA-AU X 9466143 9466143 single base substitution C T intron_variant MELA-AU X 9466349 9466349 single base substitution C T intron_variant MELA-AU X 9466492 9466492 single base substitution G A intron_variant MELA-AU X 9466664 9466664 single base substitution C T intron_variant MELA-AU X 9467047 9467047 single base substitution C T intron_variant MELA-AU X 9467351 9467351 single base substitution C T intron_variant MELA-AU X 9467407 9467407 single base substitution G A intron_variant MELA-AU X 9468018 9468018 single base substitution C T intron_variant MELA-AU X 9468122 9468122 single base substitution C T intron_variant MELA-AU X 9468400 9468400 single base substitution C T intron_variant MELA-AU X 9469391 9469391 single base substitution C T intron_variant MELA-AU X 9469629 9469629 single base substitution C T intron_variant MELA-AU X 9469949 9469949 single base substitution C T intron_variant MELA-AU X 9470801 9470801 single base substitution C T intron_variant MELA-AU X 9471249 9471249 single base substitution G A intron_variant MELA-AU X 9471304 9471304 single base substitution A C intron_variant MELA-AU X 9471665 9471665 single base substitution T G intron_variant MELA-AU X 9471815 9471815 single base substitution G A intron_variant MELA-AU X 9472480 9472481 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU X 9472737 9472737 single base substitution C T intron_variant MELA-AU X 9472952 9472952 single base substitution C T intron_variant MELA-AU X 9473067 9473067 single base substitution G A intron_variant MELA-AU X 9473399 9473399 single base substitution A G intron_variant MELA-AU X 9473549 9473549 single base substitution G A intron_variant MELA-AU X 9473817 9473817 single base substitution C G intron_variant MELA-AU X 9474208 9474208 single base substitution C T intron_variant MELA-AU X 9474353 9474353 single base substitution G A intron_variant MELA-AU X 9474538 9474538 single base substitution C T intron_variant MELA-AU X 9474546 9474546 single base substitution C T intron_variant MELA-AU X 9474794 9474794 single base substitution G A intron_variant MELA-AU X 9475323 9475323 single base substitution C T intron_variant MELA-AU X 9476083 9476083 single base substitution C T intron_variant MELA-AU X 9476253 9476253 single base substitution C T intron_variant MELA-AU X 9476570 9476570 single base substitution G A intron_variant MELA-AU X 9476651 9476651 single base substitution C T intron_variant MELA-AU X 9476693 9476693 single base substitution C A intron_variant MELA-AU X 9477417 9477417 single base substitution A T intron_variant MELA-AU X 9477649 9477649 single base substitution C T intron_variant MELA-AU X 9478084 9478084 single base substitution T G intron_variant MELA-AU X 9478827 9478827 single base substitution G T intron_variant MELA-AU X 9478906 9478906 single base substitution G A intron_variant MELA-AU X 9479201 9479201 single base substitution T G intron_variant MELA-AU X 9479555 9479555 single base substitution C T intron_variant MELA-AU X 9479777 9479777 single base substitution T A intron_variant MELA-AU X 9479947 9479947 single base substitution T C intron_variant MELA-AU X 9480140 9480140 single base substitution C T intron_variant MELA-AU X 9480848 9480848 single base substitution C T intron_variant MELA-AU X 9481278 9481278 single base substitution G T intron_variant MELA-AU X 9481369 9481370 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 9481401 9481401 deletion of <=200bp G - intron_variant MELA-AU X 9481434 9481434 single base substitution C T intron_variant MELA-AU X 9481771 9481771 single base substitution T C intron_variant MELA-AU X 9481872 9481872 single base substitution G A intron_variant MELA-AU X 9482123 9482123 single base substitution G A intron_variant MELA-AU X 9482146 9482146 single base substitution C T intron_variant MELA-AU X 9483575 9483575 single base substitution G A intron_variant MELA-AU X 9483630 9483630 single base substitution C T intron_variant MELA-AU X 9483830 9483830 single base substitution G A intron_variant MELA-AU X 9483925 9483925 single base substitution G A intron_variant MELA-AU X 9484634 9484634 single base substitution C T intron_variant MELA-AU X 9484865 9484865 single base substitution C T intron_variant MELA-AU X 9485090 9485090 single base substitution T A intron_variant MELA-AU X 9485569 9485569 single base substitution C T intron_variant MELA-AU X 9486062 9486063 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 9486398 9486398 single base substitution G A intron_variant MELA-AU X 9486668 9486668 single base substitution G A intron_variant MELA-AU X 9486993 9486993 single base substitution C T intron_variant MELA-AU X 9487353 9487353 single base substitution C T intron_variant MELA-AU X 9487436 9487436 single base substitution C T intron_variant MELA-AU X 9487437 9487437 single base substitution C T intron_variant MELA-AU X 9488738 9488738 single base substitution C T intron_variant MELA-AU X 9489351 9489351 single base substitution T G intron_variant MELA-AU X 9489952 9489952 single base substitution C T intron_variant MELA-AU X 9490002 9490002 single base substitution G A intron_variant MELA-AU X 9490578 9490578 single base substitution G A intron_variant MELA-AU X 9490944 9490944 single base substitution C T intron_variant MELA-AU X 9491237 9491237 single base substitution C T intron_variant MELA-AU X 9491706 9491706 single base substitution G A intron_variant MELA-AU X 9492130 9492130 single base substitution C T intron_variant MELA-AU X 9492206 9492206 single base substitution C T intron_variant MELA-AU X 9492277 9492277 single base substitution G A intron_variant MELA-AU X 9492336 9492336 single base substitution C T intron_variant MELA-AU X 9492784 9492784 single base substitution C T intron_variant MELA-AU X 9493218 9493218 single base substitution C T intron_variant MELA-AU X 9493875 9493875 single base substitution C T intron_variant MELA-AU X 9493907 9493907 single base substitution C T intron_variant MELA-AU X 9494003 9494003 single base substitution C T intron_variant MELA-AU X 9494010 9494010 single base substitution C T intron_variant MELA-AU X 9494876 9494876 single base substitution G A intron_variant MELA-AU X 9495111 9495111 single base substitution G A intron_variant MELA-AU X 9495828 9495828 single base substitution A G intron_variant MELA-AU X 9497692 9497692 single base substitution C T intron_variant MELA-AU X 9497741 9497741 single base substitution G A intron_variant MELA-AU X 9498273 9498273 single base substitution C T intron_variant MELA-AU X 9498273 9498273 single base substitution C T upstream_gene_variant MELA-AU X 9498887 9498887 single base substitution C T intron_variant MELA-AU X 9498887 9498887 single base substitution C T upstream_gene_variant MELA-AU X 9498940 9498940 deletion of <=200bp A - intron_variant MELA-AU X 9498940 9498940 deletion of <=200bp A - upstream_gene_variant MELA-AU X 9499869 9499869 single base substitution T C intron_variant MELA-AU X 9499869 9499869 single base substitution T C upstream_gene_variant MELA-AU X 9501080 9501080 single base substitution G A intron_variant MELA-AU X 9501080 9501080 single base substitution G A upstream_gene_variant MELA-AU X 9501171 9501171 single base substitution G A intron_variant MELA-AU X 9501171 9501171 single base substitution G A upstream_gene_variant MELA-AU X 9501873 9501873 single base substitution C T intron_variant MELA-AU X 9501873 9501873 single base substitution C T upstream_gene_variant MELA-AU X 9502173 9502173 single base substitution G A intron_variant MELA-AU X 9502173 9502173 single base substitution G A upstream_gene_variant MELA-AU X 9502408 9502408 single base substitution T G intron_variant MELA-AU X 9502408 9502408 single base substitution T G upstream_gene_variant MELA-AU X 9502527 9502527 single base substitution T A intron_variant MELA-AU X 9502527 9502527 single base substitution T A upstream_gene_variant MELA-AU X 9502638 9502638 single base substitution C T intron_variant MELA-AU X 9502638 9502638 single base substitution C T upstream_gene_variant MELA-AU X 9502765 9502765 single base substitution A G intron_variant MELA-AU X 9502765 9502765 single base substitution A G upstream_gene_variant MELA-AU X 9503217 9503218 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 9504239 9504239 single base substitution T A intron_variant MELA-AU X 9504382 9504382 single base substitution C T intron_variant MELA-AU X 9504673 9504673 single base substitution A G intron_variant MELA-AU X 9505450 9505450 single base substitution C T intron_variant MELA-AU X 9506369 9506369 single base substitution C T intron_variant MELA-AU X 9506406 9506406 single base substitution C T intron_variant MELA-AU X 9506738 9506738 single base substitution C T intron_variant MELA-AU X 9506791 9506791 single base substitution C T intron_variant MELA-AU X 9507047 9507047 single base substitution A T intron_variant MELA-AU X 9507315 9507315 single base substitution G A intron_variant MELA-AU X 9509917 9509917 single base substitution C T intron_variant MELA-AU X 9510692 9510692 deletion of <=200bp T - intron_variant MELA-AU X 9510714 9510714 single base substitution G A intron_variant MELA-AU X 9511449 9511449 single base substitution C T intron_variant MELA-AU X 9511670 9511670 single base substitution C T intron_variant MELA-AU X 9511919 9511920 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU X 9511923 9511923 single base substitution G A intron_variant MELA-AU X 9512040 9512040 single base substitution C T intron_variant MELA-AU X 9512299 9512299 single base substitution G A intron_variant MELA-AU X 9513189 9513189 single base substitution G A intron_variant MELA-AU X 9513686 9513687 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 9513747 9513747 single base substitution G A intron_variant MELA-AU X 9515790 9515790 single base substitution G A intron_variant MELA-AU X 9516279 9516279 single base substitution A G intron_variant MELA-AU X 9516811 9516811 single base substitution G A intron_variant MELA-AU X 9517191 9517191 single base substitution C T intron_variant MELA-AU X 9518006 9518006 single base substitution C T intron_variant MELA-AU X 9518873 9518873 single base substitution C T intron_variant MELA-AU X 9519397 9519397 single base substitution G A intron_variant MELA-AU X 9519761 9519761 single base substitution T C intron_variant MELA-AU X 9520005 9520006 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 9520930 9520930 single base substitution C T intron_variant MELA-AU X 9521301 9521301 single base substitution C T intron_variant MELA-AU X 9521383 9521383 single base substitution G A intron_variant MELA-AU X 9521464 9521464 single base substitution C T intron_variant MELA-AU X 9521670 9521670 single base substitution C T intron_variant MELA-AU X 9521738 9521738 single base substitution T A intron_variant MELA-AU X 9522176 9522176 single base substitution C T intron_variant MELA-AU X 9523344 9523344 single base substitution C T intron_variant MELA-AU X 9524247 9524248 multiple base substitution (>=2bp and <=200bp) AA GT intron_variant MELA-AU X 9524736 9524736 single base substitution C T intron_variant MELA-AU X 9525492 9525492 single base substitution G A intron_variant MELA-AU X 9525497 9525497 single base substitution G A intron_variant MELA-AU X 9525611 9525611 single base substitution C T intron_variant MELA-AU X 9526190 9526190 single base substitution C T intron_variant MELA-AU X 9526270 9526270 single base substitution G T intron_variant MELA-AU X 9526341 9526341 single base substitution C T intron_variant MELA-AU X 9526525 9526525 single base substitution C T intron_variant MELA-AU X 9526984 9526984 single base substitution C T intron_variant MELA-AU X 9527017 9527017 single base substitution C T intron_variant MELA-AU X 9527442 9527442 single base substitution G T intron_variant MELA-AU X 9527495 9527495 single base substitution C T intron_variant MELA-AU X 9528509 9528509 single base substitution A T intron_variant MELA-AU X 9530504 9530504 single base substitution T G intron_variant MELA-AU X 9530535 9530535 single base substitution G A intron_variant MELA-AU X 9530625 9530625 single base substitution C T intron_variant MELA-AU X 9530741 9530741 single base substitution C T intron_variant MELA-AU X 9530817 9530817 single base substitution G A intron_variant MELA-AU X 9531091 9531091 single base substitution C A intron_variant MELA-AU X 9531576 9531576 single base substitution C T intron_variant MELA-AU X 9531586 9531586 single base substitution A G intron_variant MELA-AU X 9531834 9531834 single base substitution C T intron_variant MELA-AU X 9532063 9532063 single base substitution A G intron_variant MELA-AU X 9532365 9532365 single base substitution A C intron_variant MELA-AU X 9532714 9532714 single base substitution C G intron_variant MELA-AU X 9534339 9534339 single base substitution C T intron_variant MELA-AU X 9535860 9535860 single base substitution C T intron_variant MELA-AU X 9536047 9536047 single base substitution C T intron_variant MELA-AU X 9536531 9536531 single base substitution T C intron_variant MELA-AU X 9536723 9536723 single base substitution G T intron_variant MELA-AU X 9538193 9538193 single base substitution G A intron_variant MELA-AU X 9539957 9539957 single base substitution C T intron_variant MELA-AU X 9540755 9540755 insertion of <=200bp - A intron_variant MELA-AU X 9542749 9542749 single base substitution C T intron_variant MELA-AU X 9543037 9543037 single base substitution A G intron_variant MELA-AU X 9543118 9543118 single base substitution G A intron_variant MELA-AU X 9544235 9544235 single base substitution G A intron_variant MELA-AU X 9544361 9544361 single base substitution A C intron_variant MELA-AU X 9544530 9544530 single base substitution C T intron_variant MELA-AU X 9544664 9544664 single base substitution T C intron_variant MELA-AU X 9544862 9544862 deletion of <=200bp G - intron_variant MELA-AU X 9545287 9545287 single base substitution G A intron_variant MELA-AU X 9545833 9545833 single base substitution G A intron_variant MELA-AU X 9546649 9546649 single base substitution C T intron_variant MELA-AU X 9546949 9546949 single base substitution G T intron_variant MELA-AU X 9548097 9548097 single base substitution C T intron_variant MELA-AU X 9548711 9548711 single base substitution C T intron_variant MELA-AU X 9548811 9548811 single base substitution T C intron_variant MELA-AU X 9549189 9549189 single base substitution C T intron_variant MELA-AU X 9550030 9550030 single base substitution A T intron_variant MELA-AU X 9550490 9550490 single base substitution C T intron_variant MELA-AU X 9550578 9550578 single base substitution A G intron_variant MELA-AU X 9551050 9551050 single base substitution G A intron_variant MELA-AU X 9552298 9552298 single base substitution G A intron_variant MELA-AU X 9552433 9552433 single base substitution C T intron_variant MELA-AU X 9553331 9553331 single base substitution G A intron_variant MELA-AU X 9553613 9553613 single base substitution C T intron_variant MELA-AU X 9554287 9554287 single base substitution C T intron_variant MELA-AU X 9554462 9554462 single base substitution C T intron_variant MELA-AU X 9554887 9554887 single base substitution C G intron_variant MELA-AU X 9555523 9555523 single base substitution G A intron_variant MELA-AU X 9556324 9556324 single base substitution G T intron_variant MELA-AU X 9556561 9556561 single base substitution G A intron_variant MELA-AU X 9557718 9557718 single base substitution G A intron_variant MELA-AU X 9557959 9557959 single base substitution G A intron_variant MELA-AU X 9558624 9558624 single base substitution C T intron_variant MELA-AU X 9558654 9558654 single base substitution T C intron_variant MELA-AU X 9559034 9559035 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU X 9559096 9559096 single base substitution C T intron_variant MELA-AU X 9560056 9560056 single base substitution C T intron_variant MELA-AU X 9560846 9560846 single base substitution C T intron_variant MELA-AU X 9561623 9561623 single base substitution G A intron_variant MELA-AU X 9561683 9561683 single base substitution G A intron_variant MELA-AU X 9561948 9561948 single base substitution G A intron_variant MELA-AU X 9562007 9562007 single base substitution C T intron_variant MELA-AU X 9562162 9562162 single base substitution G A intron_variant MELA-AU X 9562363 9562363 single base substitution T A intron_variant MELA-AU X 9562501 9562501 single base substitution C T intron_variant MELA-AU X 9562505 9562505 single base substitution G A intron_variant MELA-AU X 9562591 9562591 single base substitution C T intron_variant MELA-AU X 9562614 9562614 single base substitution T G intron_variant MELA-AU X 9562647 9562647 single base substitution A G intron_variant MELA-AU X 9562777 9562777 single base substitution G A intron_variant MELA-AU X 9562849 9562849 single base substitution C T intron_variant MELA-AU X 9562960 9562960 single base substitution G A intron_variant MELA-AU X 9563219 9563219 single base substitution C T intron_variant MELA-AU X 9563961 9563961 single base substitution C T intron_variant MELA-AU X 9564007 9564007 single base substitution C T intron_variant MELA-AU X 9564647 9564647 single base substitution C T intron_variant MELA-AU X 9564776 9564776 single base substitution C T intron_variant MELA-AU X 9564873 9564873 single base substitution C T intron_variant MELA-AU X 9564908 9564908 single base substitution C T intron_variant MELA-AU X 9565399 9565399 single base substitution A T intron_variant MELA-AU X 9565561 9565561 single base substitution T C intron_variant MELA-AU X 9566180 9566180 single base substitution C T intron_variant MELA-AU X 9566940 9566940 single base substitution C T intron_variant MELA-AU X 9567054 9567054 single base substitution G A intron_variant MELA-AU X 9567289 9567289 single base substitution T C intron_variant MELA-AU X 9567292 9567292 single base substitution C T intron_variant MELA-AU X 9567698 9567698 single base substitution C T intron_variant MELA-AU X 9567957 9567957 single base substitution C T intron_variant MELA-AU X 9567975 9567975 single base substitution G A intron_variant MELA-AU X 9568055 9568055 single base substitution T C intron_variant MELA-AU X 9568078 9568078 single base substitution G A intron_variant MELA-AU X 9568497 9568497 single base substitution G A intron_variant MELA-AU X 9568625 9568625 single base substitution T A intron_variant MELA-AU X 9568742 9568742 single base substitution T G intron_variant MELA-AU X 9569091 9569091 single base substitution C T intron_variant MELA-AU X 9569381 9569381 single base substitution C T intron_variant MELA-AU X 9569498 9569498 single base substitution C T intron_variant MELA-AU X 9569624 9569624 single base substitution G A intron_variant MELA-AU X 9569673 9569673 single base substitution G T intron_variant MELA-AU X 9569968 9569968 single base substitution C T intron_variant MELA-AU X 9570162 9570162 single base substitution C T intron_variant MELA-AU X 9570781 9570781 single base substitution A C intron_variant MELA-AU X 9570992 9570992 single base substitution G A intron_variant MELA-AU X 9572064 9572064 single base substitution T C intron_variant MELA-AU X 9572066 9572066 single base substitution C T intron_variant MELA-AU X 9572273 9572273 single base substitution C T intron_variant MELA-AU X 9572541 9572541 single base substitution T C intron_variant MELA-AU X 9572885 9572885 single base substitution C T intron_variant MELA-AU X 9572984 9572984 single base substitution G A intron_variant MELA-AU X 9573242 9573242 single base substitution T G intron_variant MELA-AU X 9573839 9573839 single base substitution A G intron_variant MELA-AU X 9573876 9573876 single base substitution G A intron_variant MELA-AU X 9574692 9574692 single base substitution C T intron_variant MELA-AU X 9574873 9574873 single base substitution T C intron_variant MELA-AU X 9575077 9575077 single base substitution C T intron_variant MELA-AU X 9575720 9575720 single base substitution C T intron_variant MELA-AU X 9576153 9576153 single base substitution C T intron_variant MELA-AU X 9577841 9577841 single base substitution C T intron_variant MELA-AU X 9577914 9577914 single base substitution C T intron_variant MELA-AU X 9579032 9579032 single base substitution C T intron_variant MELA-AU X 9579232 9579232 single base substitution C T intron_variant MELA-AU X 9579841 9579841 insertion of <=200bp - G intron_variant MELA-AU X 9579872 9579872 single base substitution C T intron_variant MELA-AU X 9580282 9580282 single base substitution G T intron_variant MELA-AU X 9580686 9580686 single base substitution C T intron_variant MELA-AU X 9580791 9580791 single base substitution C T intron_variant MELA-AU X 9581701 9581701 single base substitution G A intron_variant MELA-AU X 9582288 9582288 single base substitution C T intron_variant MELA-AU X 9582527 9582527 single base substitution G A intron_variant MELA-AU X 9583184 9583184 single base substitution C T intron_variant MELA-AU X 9584401 9584401 single base substitution C T intron_variant MELA-AU X 9586012 9586012 single base substitution C T intron_variant MELA-AU X 9586343 9586343 single base substitution G A intron_variant MELA-AU X 9586495 9586495 single base substitution C T intron_variant MELA-AU X 9586673 9586673 single base substitution C T intron_variant MELA-AU X 9587230 9587231 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 9587870 9587870 single base substitution C T intron_variant MELA-AU X 9588268 9588268 single base substitution G A intron_variant MELA-AU X 9588452 9588452 single base substitution G C intron_variant MELA-AU X 9588592 9588592 single base substitution C T intron_variant MELA-AU X 9588635 9588635 single base substitution C T intron_variant MELA-AU X 9589183 9589183 single base substitution T G intron_variant MELA-AU X 9589405 9589405 single base substitution G A intron_variant MELA-AU X 9590346 9590347 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 9590530 9590530 single base substitution C G intron_variant MELA-AU X 9591260 9591260 single base substitution G A intron_variant MELA-AU X 9593020 9593020 single base substitution C T intron_variant MELA-AU X 9593294 9593294 single base substitution A G intron_variant MELA-AU X 9593469 9593469 single base substitution G A intron_variant MELA-AU X 9593612 9593612 single base substitution G A intron_variant MELA-AU X 9594218 9594218 single base substitution C T intron_variant MELA-AU X 9594285 9594285 single base substitution C T intron_variant MELA-AU X 9594588 9594588 single base substitution C T intron_variant MELA-AU X 9594787 9594787 single base substitution C T intron_variant MELA-AU X 9596189 9596189 single base substitution G A intron_variant MELA-AU X 9596422 9596422 single base substitution C T intron_variant MELA-AU X 9596515 9596515 single base substitution C T intron_variant MELA-AU X 9597882 9597882 single base substitution G A intron_variant MELA-AU X 9598344 9598344 single base substitution C T intron_variant MELA-AU X 9598396 9598396 single base substitution G A intron_variant MELA-AU X 9599769 9599769 single base substitution C T intron_variant MELA-AU X 9599849 9599849 single base substitution C T intron_variant MELA-AU X 9600119 9600119 single base substitution C T intron_variant MELA-AU X 9601998 9601998 single base substitution G A intron_variant MELA-AU X 9602294 9602294 single base substitution C T intron_variant MELA-AU X 9602535 9602535 single base substitution G A intron_variant MELA-AU X 9602892 9602892 single base substitution C T intron_variant MELA-AU X 9602892 9602892 single base substitution C T upstream_gene_variant MELA-AU X 9603129 9603129 single base substitution C T intron_variant MELA-AU X 9603129 9603129 single base substitution C T upstream_gene_variant MELA-AU X 9603769 9603769 single base substitution C T intron_variant MELA-AU X 9603769 9603769 single base substitution C T upstream_gene_variant MELA-AU X 9604144 9604144 single base substitution C T intron_variant MELA-AU X 9604144 9604144 single base substitution C T upstream_gene_variant MELA-AU X 9605412 9605412 single base substitution G A intron_variant MELA-AU X 9605412 9605412 single base substitution G A upstream_gene_variant MELA-AU X 9605581 9605581 single base substitution G C intron_variant MELA-AU X 9605581 9605581 single base substitution G C upstream_gene_variant MELA-AU X 9605804 9605804 single base substitution C T intron_variant MELA-AU X 9605804 9605804 single base substitution C T upstream_gene_variant MELA-AU X 9605889 9605889 single base substitution C T intron_variant MELA-AU X 9605889 9605889 single base substitution C T upstream_gene_variant MELA-AU X 9606964 9606964 single base substitution C T intron_variant MELA-AU X 9606964 9606964 single base substitution C T upstream_gene_variant MELA-AU X 9607002 9607002 single base substitution C T intron_variant MELA-AU X 9607002 9607002 single base substitution C T upstream_gene_variant MELA-AU X 9607303 9607303 single base substitution C T intron_variant MELA-AU X 9607303 9607303 single base substitution C T upstream_gene_variant MELA-AU X 9607453 9607453 single base substitution G A intron_variant MELA-AU X 9607453 9607453 single base substitution G A upstream_gene_variant MELA-AU X 9607937 9607937 single base substitution G A exon_variant MELA-AU X 9607937 9607937 single base substitution G A intron_variant MELA-AU X 9608257 9608257 single base substitution A G intron_variant MELA-AU X 9608297 9608297 single base substitution T A intron_variant MELA-AU X 9608334 9608334 single base substitution C T 5_prime_UTR_variant MELA-AU X 9608334 9608334 single base substitution C T exon_variant MELA-AU X 9608380 9608380 single base substitution C T 5_prime_UTR_variant MELA-AU X 9608380 9608380 single base substitution C T exon_variant MELA-AU X 9608408 9608408 single base substitution G A splice_region_variant MELA-AU X 9608576 9608576 single base substitution C T intron_variant MELA-AU X 9608774 9608774 single base substitution G A intron_variant MELA-AU X 9609248 9609248 single base substitution A T intron_variant MELA-AU X 9609331 9609331 single base substitution C T intron_variant MELA-AU X 9610770 9610770 single base substitution T C intron_variant MELA-AU X 9610778 9610778 single base substitution C T intron_variant MELA-AU X 9610842 9610842 single base substitution G A intron_variant MELA-AU X 9611071 9611071 single base substitution G A intron_variant MELA-AU X 9611099 9611099 single base substitution G A intron_variant MELA-AU X 9612687 9612687 single base substitution T A intron_variant MELA-AU X 9613032 9613032 single base substitution C T exon_variant MELA-AU X 9613032 9613032 single base substitution C T intron_variant MELA-AU X 9613214 9613214 single base substitution A G exon_variant MELA-AU X 9613214 9613214 single base substitution A G intron_variant MELA-AU X 9613910 9613910 single base substitution G C downstream_gene_variant MELA-AU X 9613910 9613910 single base substitution G C intron_variant MELA-AU X 9613928 9613928 single base substitution T C downstream_gene_variant MELA-AU X 9613928 9613928 single base substitution T C intron_variant MELA-AU X 9614058 9614058 single base substitution C T downstream_gene_variant MELA-AU X 9614058 9614058 single base substitution C T intron_variant MELA-AU X 9614174 9614174 single base substitution C T downstream_gene_variant MELA-AU X 9614174 9614174 single base substitution C T intron_variant MELA-AU X 9615375 9615375 single base substitution C T downstream_gene_variant MELA-AU X 9615375 9615375 single base substitution C T intron_variant MELA-AU X 9615568 9615568 single base substitution C T downstream_gene_variant MELA-AU X 9615568 9615568 single base substitution C T intron_variant MELA-AU X 9615636 9615636 single base substitution G A downstream_gene_variant MELA-AU X 9615636 9615636 single base substitution G A intron_variant MELA-AU X 9616642 9616642 single base substitution A C downstream_gene_variant MELA-AU X 9616642 9616642 single base substitution A C intron_variant MELA-AU X 9616734 9616734 single base substitution C T downstream_gene_variant MELA-AU X 9616734 9616734 single base substitution C T intron_variant MELA-AU X 9616899 9616899 single base substitution A G downstream_gene_variant MELA-AU X 9616899 9616899 single base substitution A G intron_variant MELA-AU X 9617807 9617807 single base substitution G A downstream_gene_variant MELA-AU X 9617807 9617807 single base substitution G A intron_variant MELA-AU X 9618136 9618136 single base substitution C T downstream_gene_variant MELA-AU X 9618136 9618136 single base substitution C T intron_variant MELA-AU X 9618207 9618207 single base substitution T A downstream_gene_variant MELA-AU X 9618207 9618207 single base substitution T A intron_variant MELA-AU X 9619241 9619241 single base substitution C T intron_variant MELA-AU X 9620407 9620407 single base substitution C T intron_variant MELA-AU X 9620409 9620409 single base substitution C T intron_variant MELA-AU X 9620436 9620436 single base substitution C T intron_variant MELA-AU X 9621447 9621447 single base substitution C T intron_variant MELA-AU X 9621579 9621579 single base substitution C T intron_variant MELA-AU X 9621579 9621579 single base substitution C T splice_region_variant MELA-AU X 9622396 9622396 single base substitution C T downstream_gene_variant MELA-AU X 9622396 9622396 single base substitution C T intron_variant MELA-AU X 9622526 9622526 single base substitution C T downstream_gene_variant MELA-AU X 9622526 9622526 single base substitution C T intron_variant MELA-AU X 9622700 9622700 single base substitution C T downstream_gene_variant MELA-AU X 9622700 9622700 single base substitution C T intron_variant MELA-AU X 9623270 9623270 single base substitution C T downstream_gene_variant MELA-AU X 9623270 9623270 single base substitution C T intron_variant MELA-AU X 9624017 9624017 single base substitution C T downstream_gene_variant MELA-AU X 9624017 9624017 single base substitution C T intron_variant MELA-AU X 9624324 9624324 single base substitution C T downstream_gene_variant MELA-AU X 9624324 9624324 single base substitution C T intron_variant MELA-AU X 9624553 9624553 single base substitution C T downstream_gene_variant MELA-AU X 9624553 9624553 single base substitution C T intron_variant MELA-AU X 9624778 9624778 single base substitution A G downstream_gene_variant MELA-AU X 9624778 9624778 single base substitution A G intron_variant MELA-AU X 9625218 9625218 single base substitution G A downstream_gene_variant MELA-AU X 9625218 9625218 single base substitution G A intron_variant MELA-AU X 9625261 9625261 single base substitution C T downstream_gene_variant MELA-AU X 9625261 9625261 single base substitution C T intron_variant MELA-AU X 9625997 9625997 single base substitution C T downstream_gene_variant MELA-AU X 9625997 9625997 single base substitution C T intron_variant MELA-AU X 9626337 9626337 single base substitution G A downstream_gene_variant MELA-AU X 9626337 9626337 single base substitution G A intron_variant MELA-AU X 9626935 9626935 single base substitution C T downstream_gene_variant MELA-AU X 9626935 9626935 single base substitution C T intron_variant MELA-AU X 9627489 9627489 single base substitution G T intron_variant MELA-AU X 9627508 9627508 single base substitution C T intron_variant MELA-AU X 9628031 9628031 single base substitution C T intron_variant MELA-AU X 9628624 9628624 single base substitution G A intron_variant MELA-AU X 9628911 9628911 single base substitution C T intron_variant MELA-AU X 9629107 9629107 single base substitution C T intron_variant MELA-AU X 9629148 9629148 single base substitution C T intron_variant MELA-AU X 9629363 9629363 single base substitution G A intron_variant MELA-AU X 9629865 9629865 single base substitution C T intron_variant MELA-AU X 9629904 9629904 single base substitution G A intron_variant MELA-AU X 9630124 9630124 single base substitution G T intron_variant MELA-AU X 9631275 9631275 single base substitution G A intron_variant MELA-AU X 9631481 9631481 single base substitution C T intron_variant MELA-AU X 9631848 9631848 single base substitution C T intron_variant MELA-AU X 9631948 9631948 single base substitution G A intron_variant MELA-AU X 9632087 9632087 single base substitution G A intron_variant MELA-AU X 9632291 9632291 single base substitution T C intron_variant MELA-AU X 9632831 9632831 single base substitution C T intron_variant MELA-AU X 9633361 9633361 single base substitution C T intron_variant MELA-AU X 9633963 9633963 single base substitution G A intron_variant MELA-AU X 9634084 9634084 single base substitution C T intron_variant MELA-AU X 9634305 9634305 single base substitution C T intron_variant MELA-AU X 9635021 9635021 single base substitution A G intron_variant MELA-AU X 9635307 9635307 single base substitution C T intron_variant MELA-AU X 9636065 9636065 single base substitution T G intron_variant MELA-AU X 9636171 9636171 single base substitution C T intron_variant MELA-AU X 9636286 9636286 single base substitution C T intron_variant MELA-AU X 9636432 9636432 single base substitution T A intron_variant MELA-AU X 9636476 9636476 single base substitution C T intron_variant MELA-AU X 9637502 9637502 single base substitution C T intron_variant MELA-AU X 9637755 9637755 single base substitution C T intron_variant MELA-AU X 9638061 9638061 single base substitution C T intron_variant MELA-AU X 9638135 9638135 single base substitution A C intron_variant MELA-AU X 9638370 9638370 single base substitution C T intron_variant MELA-AU X 9639008 9639008 single base substitution G A intron_variant MELA-AU X 9639603 9639603 single base substitution C T intron_variant MELA-AU X 9640373 9640373 single base substitution C T intron_variant MELA-AU X 9640928 9640928 single base substitution A C intron_variant MELA-AU X 9641504 9641504 single base substitution C T intron_variant MELA-AU X 9641608 9641608 single base substitution G A intron_variant MELA-AU X 9641901 9641901 single base substitution G A intron_variant MELA-AU X 9642060 9642060 single base substitution C T intron_variant MELA-AU X 9642092 9642092 single base substitution G A intron_variant MELA-AU X 9642473 9642473 single base substitution C T intron_variant MELA-AU X 9643081 9643081 single base substitution G C intron_variant MELA-AU X 9643805 9643805 single base substitution C T intron_variant MELA-AU X 9644637 9644637 single base substitution G A intron_variant MELA-AU X 9644818 9644818 single base substitution G A intron_variant MELA-AU X 9644869 9644869 single base substitution C T intron_variant MELA-AU X 9645173 9645173 single base substitution C T intron_variant MELA-AU X 9645670 9645670 single base substitution C T intron_variant MELA-AU X 9646183 9646183 single base substitution C T intron_variant MELA-AU X 9646306 9646306 single base substitution C T intron_variant MELA-AU X 9646932 9646932 single base substitution C T intron_variant MELA-AU X 9647244 9647244 single base substitution C T intron_variant MELA-AU X 9648288 9648288 single base substitution C T intron_variant MELA-AU X 9648403 9648403 single base substitution C T intron_variant MELA-AU X 9648495 9648495 single base substitution C T intron_variant MELA-AU X 9648544 9648544 single base substitution G A intron_variant MELA-AU X 9648878 9648878 single base substitution G A intron_variant MELA-AU X 9648943 9648943 single base substitution C T intron_variant MELA-AU X 9649145 9649145 single base substitution A G intron_variant MELA-AU X 9651439 9651439 single base substitution T C intron_variant MELA-AU X 9651515 9651515 single base substitution C T intron_variant MELA-AU X 9651867 9651867 single base substitution C A intron_variant MELA-AU X 9651903 9651903 single base substitution C T intron_variant MELA-AU X 9651909 9651909 single base substitution C T intron_variant MELA-AU X 9652532 9652532 single base substitution T G downstream_gene_variant MELA-AU X 9652532 9652532 single base substitution T G intron_variant MELA-AU X 9652743 9652743 single base substitution C T downstream_gene_variant MELA-AU X 9652743 9652743 single base substitution C T intron_variant MELA-AU X 9652745 9652745 single base substitution C T downstream_gene_variant MELA-AU X 9652745 9652745 single base substitution C T intron_variant MELA-AU X 9653168 9653168 single base substitution C T downstream_gene_variant MELA-AU X 9653168 9653168 single base substitution C T intron_variant MELA-AU X 9653588 9653588 single base substitution C T downstream_gene_variant MELA-AU X 9653588 9653588 single base substitution C T intron_variant MELA-AU X 9654514 9654514 single base substitution G A downstream_gene_variant MELA-AU X 9654514 9654514 single base substitution G A intron_variant MELA-AU X 9655191 9655191 single base substitution A T downstream_gene_variant MELA-AU X 9655191 9655191 single base substitution A T intron_variant MELA-AU X 9657092 9657092 single base substitution G A downstream_gene_variant MELA-AU X 9657092 9657092 single base substitution G A intron_variant MELA-AU X 9657309 9657309 single base substitution C T downstream_gene_variant MELA-AU X 9657309 9657309 single base substitution C T intron_variant MELA-AU X 9657708 9657708 single base substitution G A downstream_gene_variant MELA-AU X 9657708 9657708 single base substitution G A intron_variant MELA-AU X 9658545 9658545 single base substitution C T downstream_gene_variant MELA-AU X 9658545 9658545 single base substitution C T intron_variant MELA-AU X 9658668 9658668 single base substitution C T downstream_gene_variant MELA-AU X 9658668 9658668 single base substitution C T intron_variant MELA-AU X 9658809 9658809 single base substitution C T downstream_gene_variant MELA-AU X 9658809 9658809 single base substitution C T intron_variant MELA-AU X 9659174 9659174 single base substitution C T downstream_gene_variant MELA-AU X 9659174 9659174 single base substitution C T intron_variant MELA-AU X 9659862 9659862 single base substitution C T downstream_gene_variant MELA-AU X 9659862 9659862 single base substitution C T intron_variant MELA-AU X 9660034 9660034 single base substitution G A downstream_gene_variant MELA-AU X 9660034 9660034 single base substitution G A intron_variant MELA-AU X 9660437 9660437 single base substitution G A downstream_gene_variant MELA-AU X 9660437 9660437 single base substitution G A intron_variant MELA-AU X 9660889 9660889 single base substitution C T downstream_gene_variant MELA-AU X 9660889 9660889 single base substitution C T intron_variant MELA-AU X 9661063 9661063 single base substitution C T downstream_gene_variant MELA-AU X 9661063 9661063 single base substitution C T intron_variant MELA-AU X 9661248 9661248 single base substitution A C missense_variant E266D 798A>C MELA-AU X 9661248 9661248 single base substitution A C missense_variant E317D 951A>C MELA-AU X 9661266 9661267 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 9662192 9662192 single base substitution C T intron_variant MELA-AU X 9662895 9662895 single base substitution C T intron_variant MELA-AU X 9663420 9663420 single base substitution T C intron_variant MELA-AU X 9664573 9664573 single base substitution C T intron_variant MELA-AU X 9665133 9665133 single base substitution C T intron_variant MELA-AU X 9666982 9666982 single base substitution C T intron_variant MELA-AU X 9667003 9667003 single base substitution C T intron_variant MELA-AU X 9667379 9667379 single base substitution A G intron_variant MELA-AU X 9667426 9667426 single base substitution G A intron_variant MELA-AU X 9667689 9667689 single base substitution G A intron_variant MELA-AU X 9668049 9668049 single base substitution G A intron_variant MELA-AU X 9669407 9669407 single base substitution C T intron_variant MELA-AU X 9669992 9669992 single base substitution G A intron_variant MELA-AU X 9671258 9671258 single base substitution G A intron_variant MELA-AU X 9671450 9671451 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU X 9671495 9671495 deletion of <=200bp G - intron_variant MELA-AU X 9671694 9671694 single base substitution G A intron_variant MELA-AU X 9672508 9672508 single base substitution G T intron_variant MELA-AU X 9672531 9672531 single base substitution C T intron_variant MELA-AU X 9675293 9675293 single base substitution C T intron_variant MELA-AU X 9675792 9675792 single base substitution G T intron_variant MELA-AU X 9676345 9676345 single base substitution C T intron_variant MELA-AU X 9676523 9676523 single base substitution G A intron_variant MELA-AU X 9677050 9677050 single base substitution A G intron_variant MELA-AU X 9678877 9678877 single base substitution T C intron_variant MELA-AU X 9680594 9680594 single base substitution C A intron_variant MELA-AU X 9681040 9681040 single base substitution C T intron_variant MELA-AU X 9681067 9681067 single base substitution G A intron_variant MELA-AU X 9681391 9681391 single base substitution G A intron_variant MELA-AU X 9681558 9681558 single base substitution C T intron_variant MELA-AU X 9681995 9681995 single base substitution T G intron_variant MELA-AU X 9683171 9683171 single base substitution G T intron_variant MELA-AU X 9683543 9683543 single base substitution G A intron_variant MELA-AU X 9683989 9683989 single base substitution G A intron_variant MELA-AU X 9684011 9684011 single base substitution C T intron_variant MELA-AU X 9684252 9684252 single base substitution C T intron_variant MELA-AU X 9684539 9684539 single base substitution G A 3_prime_UTR_variant MELA-AU X 9684539 9684539 single base substitution G A downstream_gene_variant MELA-AU X 9685055 9685055 single base substitution C T 3_prime_UTR_variant MELA-AU X 9685055 9685055 single base substitution C T downstream_gene_variant MELA-AU X 9685906 9685906 single base substitution T C 3_prime_UTR_variant MELA-AU X 9685906 9685906 single base substitution T C downstream_gene_variant MELA-AU X 9686257 9686258 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU X 9686257 9686258 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU X 9686279 9686279 single base substitution G A 3_prime_UTR_variant MELA-AU X 9686279 9686279 single base substitution G A downstream_gene_variant MELA-AU X 9686776 9686776 single base substitution G A 3_prime_UTR_variant MELA-AU X 9686776 9686776 single base substitution G A downstream_gene_variant MELA-AU X 9686849 9686849 single base substitution A G 3_prime_UTR_variant MELA-AU X 9686849 9686849 single base substitution A G downstream_gene_variant MELA-AU X 9686935 9686935 single base substitution G A 3_prime_UTR_variant MELA-AU X 9686935 9686935 single base substitution G A downstream_gene_variant MELA-AU X 9687365 9687365 single base substitution C A 3_prime_UTR_variant MELA-AU X 9687365 9687365 single base substitution C A downstream_gene_variant MELA-AU X 9687760 9687760 single base substitution T C 3_prime_UTR_variant MELA-AU X 9687760 9687760 single base substitution T C downstream_gene_variant MELA-AU X 9688909 9688909 single base substitution G A downstream_gene_variant MELA-AU X 9689091 9689091 single base substitution T C downstream_gene_variant MELA-AU X 9689246 9689246 single base substitution G T downstream_gene_variant MELA-AU X 9691088 9691088 single base substitution T A downstream_gene_variant MELA-AU X 9691615 9691615 single base substitution G A downstream_gene_variant MELA-AU X 9691641 9691641 single base substitution G A downstream_gene_variant ORCA-IN X 9448976 9448976 single base substitution G A intron_variant ORCA-IN X 9502263 9502263 single base substitution C A intron_variant ORCA-IN X 9502263 9502263 single base substitution C A upstream_gene_variant ORCA-IN X 9514079 9514079 single base substitution C T intron_variant ORCA-IN X 9522569 9522569 single base substitution T C intron_variant ORCA-IN X 9545986 9545986 single base substitution C G intron_variant ORCA-IN X 9567479 9567479 single base substitution G A intron_variant ORCA-IN X 9575642 9575642 single base substitution C G intron_variant ORCA-IN X 9578500 9578500 single base substitution C T intron_variant ORCA-IN X 9578989 9578989 single base substitution T G intron_variant ORCA-IN X 9590692 9590692 single base substitution T G intron_variant ORCA-IN X 9596433 9596433 single base substitution G C intron_variant ORCA-IN X 9621770 9621770 single base substitution C T intron_variant ORCA-IN X 9631662 9631662 single base substitution G A intron_variant ORCA-IN X 9643858 9643858 single base substitution G A intron_variant ORCA-IN X 9645509 9645509 single base substitution A T intron_variant ORCA-IN X 9648944 9648944 single base substitution G A intron_variant OV-AU X 9431113 9431113 single base substitution C G upstream_gene_variant OV-AU X 9436701 9436701 single base substitution G C intron_variant OV-AU X 9445217 9445217 single base substitution C T intron_variant OV-AU X 9453419 9453419 single base substitution C T intron_variant OV-AU X 9453420 9453420 single base substitution T A intron_variant OV-AU X 9457943 9457943 single base substitution C T intron_variant OV-AU X 9466111 9466111 single base substitution G A intron_variant OV-AU X 9470988 9470988 single base substitution C A intron_variant OV-AU X 9471685 9471685 single base substitution C A intron_variant OV-AU X 9485304 9485304 single base substitution C T intron_variant OV-AU X 9493634 9493634 single base substitution A T intron_variant OV-AU X 9495638 9495638 single base substitution A C intron_variant OV-AU X 9497760 9497760 single base substitution A G intron_variant OV-AU X 9499605 9499605 single base substitution C T intron_variant OV-AU X 9499605 9499605 single base substitution C T upstream_gene_variant OV-AU X 9499731 9499731 single base substitution G A intron_variant OV-AU X 9499731 9499731 single base substitution G A upstream_gene_variant OV-AU X 9500348 9500348 single base substitution G A intron_variant OV-AU X 9500348 9500348 single base substitution G A upstream_gene_variant OV-AU X 9505442 9505442 single base substitution G C intron_variant OV-AU X 9505936 9505936 single base substitution G T intron_variant OV-AU X 9506826 9506826 single base substitution T A intron_variant OV-AU X 9507801 9507801 single base substitution C T intron_variant OV-AU X 9511101 9511101 single base substitution C T intron_variant OV-AU X 9512964 9512964 single base substitution G A intron_variant OV-AU X 9513491 9513491 single base substitution G T intron_variant OV-AU X 9517760 9517760 single base substitution T C intron_variant OV-AU X 9521758 9521758 single base substitution C G intron_variant OV-AU X 9527554 9527554 single base substitution C G intron_variant OV-AU X 9543143 9543143 single base substitution T A intron_variant OV-AU X 9547489 9547489 single base substitution A T intron_variant OV-AU X 9549169 9549169 single base substitution T A intron_variant OV-AU X 9549543 9549543 single base substitution T G intron_variant OV-AU X 9550515 9550515 single base substitution C A intron_variant OV-AU X 9553805 9553805 single base substitution C G intron_variant OV-AU X 9559453 9559453 single base substitution G A intron_variant OV-AU X 9560776 9560776 single base substitution G A intron_variant OV-AU X 9561766 9561766 single base substitution G A intron_variant OV-AU X 9563615 9563615 single base substitution G A intron_variant OV-AU X 9567068 9567068 single base substitution C A intron_variant OV-AU X 9568784 9568784 single base substitution G A intron_variant OV-AU X 9572398 9572398 single base substitution A T intron_variant OV-AU X 9574134 9574134 single base substitution C G intron_variant OV-AU X 9577494 9577494 single base substitution G T intron_variant OV-AU X 9577686 9577686 single base substitution G C intron_variant OV-AU X 9606925 9606925 single base substitution G A intron_variant OV-AU X 9606925 9606925 single base substitution G A upstream_gene_variant OV-AU X 9613766 9613766 single base substitution G A downstream_gene_variant OV-AU X 9613766 9613766 single base substitution G A intron_variant OV-AU X 9614310 9614310 single base substitution A G downstream_gene_variant OV-AU X 9614310 9614310 single base substitution A G intron_variant OV-AU X 9621720 9621720 single base substitution C G 5_prime_UTR_variant OV-AU X 9621720 9621720 single base substitution C G intron_variant OV-AU X 9621720 9621720 single base substitution C G missense_variant R32G 94C>G OV-AU X 9627144 9627144 single base substitution A G downstream_gene_variant OV-AU X 9627144 9627144 single base substitution A G intron_variant OV-AU X 9631064 9631064 single base substitution A T intron_variant OV-AU X 9633014 9633014 single base substitution G T intron_variant OV-AU X 9637040 9637040 single base substitution G T intron_variant OV-AU X 9637281 9637281 single base substitution C T intron_variant OV-AU X 9648991 9648991 single base substitution T A intron_variant OV-AU X 9650678 9650678 single base substitution A T intron_variant OV-AU X 9652714 9652714 single base substitution G A downstream_gene_variant OV-AU X 9652714 9652714 single base substitution G A intron_variant OV-AU X 9666342 9666342 single base substitution G A intron_variant OV-AU X 9670172 9670172 single base substitution A C intron_variant OV-AU X 9678207 9678207 single base substitution T A intron_variant OV-AU X 9685057 9685057 single base substitution G A 3_prime_UTR_variant OV-AU X 9685057 9685057 single base substitution G A downstream_gene_variant OV-AU X 9691811 9691811 single base substitution A T downstream_gene_variant OV-AU X 9691812 9691812 single base substitution A G downstream_gene_variant PACA-AU X 9427599 9427599 single base substitution T G upstream_gene_variant PACA-AU X 9429713 9429713 insertion of <=200bp - TA upstream_gene_variant PACA-AU X 9430772 9430772 single base substitution G C upstream_gene_variant PACA-AU X 9433800 9433800 single base substitution T C intron_variant PACA-AU X 9435890 9435892 deletion of <=200bp AAG - intron_variant PACA-AU X 9439974 9439974 single base substitution G T intron_variant PACA-AU X 9442075 9442075 single base substitution A G intron_variant PACA-AU X 9446455 9446455 single base substitution G A intron_variant PACA-AU X 9451331 9451331 single base substitution A G intron_variant PACA-AU X 9452358 9452358 insertion of <=200bp - AC intron_variant PACA-AU X 9455886 9455886 single base substitution C G intron_variant PACA-AU X 9459813 9459813 single base substitution G T intron_variant PACA-AU X 9463464 9463464 single base substitution G T intron_variant PACA-AU X 9471538 9471538 insertion of <=200bp - GCACTG intron_variant PACA-AU X 9476400 9476400 single base substitution G C intron_variant PACA-AU X 9484280 9484280 single base substitution A G intron_variant PACA-AU X 9488699 9488699 single base substitution A T intron_variant PACA-AU X 9498207 9498207 single base substitution C T intron_variant PACA-AU X 9498207 9498207 single base substitution C T upstream_gene_variant PACA-AU X 9501271 9501271 single base substitution C T intron_variant PACA-AU X 9501271 9501271 single base substitution C T upstream_gene_variant PACA-AU X 9504791 9504791 single base substitution C T intron_variant PACA-AU X 9514279 9514279 single base substitution C T intron_variant PACA-AU X 9515951 9515958 deletion of <=200bp ATCTAGTA - intron_variant PACA-AU X 9526175 9526175 single base substitution C T intron_variant PACA-AU X 9526583 9526583 single base substitution T A intron_variant PACA-AU X 9531310 9531310 single base substitution A G intron_variant PACA-AU X 9533412 9533412 single base substitution G A intron_variant PACA-AU X 9535644 9535644 single base substitution C A intron_variant PACA-AU X 9537903 9537903 single base substitution G A intron_variant PACA-AU X 9538415 9538415 single base substitution C T intron_variant PACA-AU X 9539054 9539054 single base substitution G T intron_variant PACA-AU X 9539272 9539272 single base substitution G A intron_variant PACA-AU X 9541909 9541909 single base substitution G A intron_variant PACA-AU X 9544177 9544177 single base substitution A C intron_variant PACA-AU X 9546217 9546217 single base substitution C T intron_variant PACA-AU X 9552159 9552159 single base substitution G T intron_variant PACA-AU X 9553529 9553529 single base substitution G A intron_variant PACA-AU X 9559375 9559375 single base substitution C G intron_variant PACA-AU X 9574017 9574017 single base substitution A T intron_variant PACA-AU X 9575247 9575247 single base substitution C T intron_variant PACA-AU X 9576817 9576817 deletion of <=200bp G - intron_variant PACA-AU X 9583200 9583200 single base substitution T G intron_variant PACA-AU X 9583895 9583895 single base substitution C T intron_variant PACA-AU X 9586438 9586438 single base substitution G A intron_variant PACA-AU X 9586570 9586570 single base substitution T A intron_variant PACA-AU X 9589964 9589972 deletion of <=200bp GAAAGTATA - intron_variant PACA-AU X 9596490 9596490 single base substitution C G intron_variant PACA-AU X 9600092 9600092 single base substitution A T intron_variant PACA-AU X 9603331 9603331 single base substitution C T intron_variant PACA-AU X 9603331 9603331 single base substitution C T upstream_gene_variant PACA-AU X 9611010 9611010 single base substitution G A intron_variant PACA-AU X 9616606 9616606 single base substitution A G downstream_gene_variant PACA-AU X 9616606 9616606 single base substitution A G intron_variant PACA-AU X 9618609 9618609 single base substitution G A intron_variant PACA-AU X 9622233 9622233 single base substitution A C intron_variant PACA-AU X 9623100 9623100 single base substitution G A downstream_gene_variant PACA-AU X 9623100 9623100 single base substitution G A intron_variant PACA-AU X 9627570 9627570 deletion of <=200bp T - intron_variant PACA-AU X 9631526 9631526 single base substitution C T intron_variant PACA-AU X 9632582 9632582 single base substitution T G intron_variant PACA-AU X 9634604 9634604 single base substitution A G intron_variant PACA-AU X 9640342 9640342 single base substitution G A intron_variant PACA-AU X 9640676 9640676 insertion of <=200bp - T intron_variant PACA-AU X 9645780 9645780 insertion of <=200bp - A intron_variant PACA-AU X 9650628 9650628 single base substitution C A intron_variant PACA-AU X 9651898 9651898 single base substitution C T intron_variant PACA-AU X 9652499 9652499 single base substitution G A downstream_gene_variant PACA-AU X 9652499 9652499 single base substitution G A intron_variant PACA-AU X 9655083 9655083 single base substitution G T downstream_gene_variant PACA-AU X 9655083 9655083 single base substitution G T intron_variant PACA-AU X 9659774 9659774 single base substitution C T downstream_gene_variant PACA-AU X 9659774 9659774 single base substitution C T intron_variant PACA-AU X 9674648 9674648 single base substitution C T intron_variant PACA-AU X 9680437 9680437 single base substitution G C intron_variant PACA-AU X 9680973 9680973 single base substitution G A intron_variant PACA-AU X 9683195 9683195 single base substitution C T intron_variant PACA-AU X 9684422 9684422 single base substitution G T 3_prime_UTR_variant PACA-AU X 9684422 9684422 single base substitution G T downstream_gene_variant PACA-AU X 9689195 9689195 single base substitution G A downstream_gene_variant PACA-CA X 9428127 9428127 single base substitution C T upstream_gene_variant PACA-CA X 9428247 9428247 single base substitution C A upstream_gene_variant PACA-CA X 9428648 9428648 single base substitution T A upstream_gene_variant PACA-CA X 9428649 9428649 single base substitution A T upstream_gene_variant PACA-CA X 9431140 9431140 single base substitution A T upstream_gene_variant PACA-CA X 9434829 9434829 single base substitution T C intron_variant PACA-CA X 9438660 9438660 single base substitution T C intron_variant PACA-CA X 9440743 9440743 single base substitution G T intron_variant PACA-CA X 9442974 9442974 single base substitution C T intron_variant PACA-CA X 9445147 9445147 single base substitution A G intron_variant PACA-CA X 9446029 9446029 single base substitution G A intron_variant PACA-CA X 9446995 9446995 single base substitution C T intron_variant PACA-CA X 9448245 9448245 single base substitution C T intron_variant PACA-CA X 9453421 9453421 single base substitution C A intron_variant PACA-CA X 9457179 9457179 single base substitution T G intron_variant PACA-CA X 9460570 9460570 single base substitution T A intron_variant PACA-CA X 9460585 9460585 single base substitution T G intron_variant PACA-CA X 9462175 9462175 single base substitution G A intron_variant PACA-CA X 9466703 9466703 single base substitution C T intron_variant PACA-CA X 9466872 9466872 single base substitution G T intron_variant PACA-CA X 9467399 9467399 single base substitution A G intron_variant PACA-CA X 9471974 9471974 single base substitution G A intron_variant PACA-CA X 9473470 9473470 single base substitution C A intron_variant PACA-CA X 9475665 9475665 single base substitution C T intron_variant PACA-CA X 9477287 9477287 single base substitution C T intron_variant PACA-CA X 9478878 9478878 single base substitution C T intron_variant PACA-CA X 9479474 9479474 deletion of <=200bp C - intron_variant PACA-CA X 9479815 9479815 single base substitution G C intron_variant PACA-CA X 9479955 9479955 single base substitution C T intron_variant PACA-CA X 9480043 9480043 single base substitution G C intron_variant PACA-CA X 9480324 9480324 single base substitution G C intron_variant PACA-CA X 9480342 9480342 single base substitution G C intron_variant PACA-CA X 9483385 9483385 single base substitution T C intron_variant PACA-CA X 9484515 9484515 single base substitution A G intron_variant PACA-CA X 9486318 9486318 single base substitution C T intron_variant PACA-CA X 9487247 9487247 single base substitution A G intron_variant PACA-CA X 9489030 9489030 single base substitution C T intron_variant PACA-CA X 9495612 9495612 single base substitution C T intron_variant PACA-CA X 9497168 9497168 single base substitution C T intron_variant PACA-CA X 9504211 9504211 single base substitution T C intron_variant PACA-CA X 9504348 9504348 single base substitution T A intron_variant PACA-CA X 9510687 9510687 single base substitution C T intron_variant PACA-CA X 9512116 9512116 single base substitution A G intron_variant PACA-CA X 9512622 9512622 single base substitution G A intron_variant PACA-CA X 9517642 9517642 deletion of <=200bp A - intron_variant PACA-CA X 9518145 9518145 single base substitution C A intron_variant PACA-CA X 9523272 9523272 single base substitution C T intron_variant PACA-CA X 9528044 9528044 single base substitution C T intron_variant PACA-CA X 9528649 9528649 single base substitution C T intron_variant PACA-CA X 9529738 9529738 single base substitution G C intron_variant PACA-CA X 9530089 9530089 single base substitution G A intron_variant PACA-CA X 9530626 9530626 single base substitution T A intron_variant PACA-CA X 9530902 9530902 single base substitution T G intron_variant PACA-CA X 9531381 9531381 single base substitution G C intron_variant PACA-CA X 9532060 9532060 single base substitution G A intron_variant PACA-CA X 9533107 9533107 single base substitution G A intron_variant PACA-CA X 9546384 9546384 single base substitution C T intron_variant PACA-CA X 9547792 9547792 single base substitution G T intron_variant PACA-CA X 9549082 9549082 single base substitution A T intron_variant PACA-CA X 9550749 9550749 single base substitution C T intron_variant PACA-CA X 9555473 9555473 single base substitution G T intron_variant PACA-CA X 9558413 9558413 single base substitution T A intron_variant PACA-CA X 9558414 9558414 single base substitution A T intron_variant PACA-CA X 9558689 9558689 single base substitution A G intron_variant PACA-CA X 9560499 9560499 insertion of <=200bp - T intron_variant PACA-CA X 9562219 9562219 single base substitution C T intron_variant PACA-CA X 9567384 9567384 single base substitution C A intron_variant PACA-CA X 9570509 9570509 single base substitution C A intron_variant PACA-CA X 9573421 9573421 single base substitution A G intron_variant PACA-CA X 9574256 9574256 single base substitution C T intron_variant PACA-CA X 9576589 9576589 single base substitution C T intron_variant PACA-CA X 9578721 9578721 single base substitution C T intron_variant PACA-CA X 9581406 9581406 single base substitution G A intron_variant PACA-CA X 9586587 9586587 single base substitution C T intron_variant PACA-CA X 9587800 9587800 single base substitution G T intron_variant PACA-CA X 9587955 9587955 single base substitution A G intron_variant PACA-CA X 9588372 9588372 single base substitution G T intron_variant PACA-CA X 9593872 9593872 single base substitution G A intron_variant PACA-CA X 9595558 9595558 single base substitution G A intron_variant PACA-CA X 9595559 9595559 single base substitution T A intron_variant PACA-CA X 9597224 9597224 single base substitution T A intron_variant PACA-CA X 9598052 9598052 single base substitution C T intron_variant PACA-CA X 9598973 9598973 single base substitution C T intron_variant PACA-CA X 9601303 9601303 single base substitution C T intron_variant PACA-CA X 9603079 9603079 single base substitution C A intron_variant PACA-CA X 9603079 9603079 single base substitution C A upstream_gene_variant PACA-CA X 9603416 9603416 single base substitution C T intron_variant PACA-CA X 9603416 9603416 single base substitution C T upstream_gene_variant PACA-CA X 9604255 9604255 single base substitution C T intron_variant PACA-CA X 9604255 9604255 single base substitution C T upstream_gene_variant PACA-CA X 9605133 9605133 single base substitution G A intron_variant PACA-CA X 9605133 9605133 single base substitution G A upstream_gene_variant PACA-CA X 9605205 9605205 single base substitution C A intron_variant PACA-CA X 9605205 9605205 single base substitution C A upstream_gene_variant PACA-CA X 9605282 9605282 single base substitution G A intron_variant PACA-CA X 9605282 9605282 single base substitution G A upstream_gene_variant PACA-CA X 9606378 9606378 single base substitution C T intron_variant PACA-CA X 9606378 9606378 single base substitution C T upstream_gene_variant PACA-CA X 9608655 9608655 single base substitution T C intron_variant PACA-CA X 9613024 9613024 single base substitution C T exon_variant PACA-CA X 9613024 9613024 single base substitution C T intron_variant PACA-CA X 9615826 9615826 single base substitution A G downstream_gene_variant PACA-CA X 9615826 9615826 single base substitution A G intron_variant PACA-CA X 9618184 9618184 single base substitution C A downstream_gene_variant PACA-CA X 9618184 9618184 single base substitution C A intron_variant PACA-CA X 9618658 9618658 single base substitution C T intron_variant PACA-CA X 9620420 9620420 single base substitution C T intron_variant PACA-CA X 9621864 9621864 single base substitution G T intron_variant PACA-CA X 9624915 9624915 single base substitution G A downstream_gene_variant PACA-CA X 9624915 9624915 single base substitution G A intron_variant PACA-CA X 9626907 9626907 single base substitution C T downstream_gene_variant PACA-CA X 9626907 9626907 single base substitution C T intron_variant PACA-CA X 9631391 9631391 single base substitution A C intron_variant PACA-CA X 9632028 9632028 single base substitution G A intron_variant PACA-CA X 9634881 9634881 single base substitution T A intron_variant PACA-CA X 9635175 9635175 single base substitution G A intron_variant PACA-CA X 9641205 9641205 single base substitution C T intron_variant PACA-CA X 9646489 9646489 single base substitution G A intron_variant PACA-CA X 9649295 9649295 single base substitution G T intron_variant PACA-CA X 9650421 9650421 single base substitution G T intron_variant PACA-CA X 9652342 9652342 single base substitution C T downstream_gene_variant PACA-CA X 9652342 9652342 single base substitution C T intron_variant PACA-CA X 9656579 9656579 single base substitution G T downstream_gene_variant PACA-CA X 9656579 9656579 single base substitution G T intron_variant PACA-CA X 9657068 9657068 single base substitution G A downstream_gene_variant PACA-CA X 9657068 9657068 single base substitution G A intron_variant PACA-CA X 9657810 9657810 single base substitution G T downstream_gene_variant PACA-CA X 9657810 9657810 single base substitution G T intron_variant PACA-CA X 9657836 9657836 single base substitution C A downstream_gene_variant PACA-CA X 9657836 9657836 single base substitution C A intron_variant PACA-CA X 9659687 9659687 single base substitution C T downstream_gene_variant PACA-CA X 9659687 9659687 single base substitution C T missense_variant R178W 532C>T PACA-CA X 9659687 9659687 single base substitution C T missense_variant R229W 685C>T PACA-CA X 9660201 9660201 single base substitution C T downstream_gene_variant PACA-CA X 9660201 9660201 single base substitution C T synonymous_variant N215N 645C>T PACA-CA X 9660201 9660201 single base substitution C T synonymous_variant N266N 798C>T PACA-CA X 9664550 9664550 single base substitution G T intron_variant PACA-CA X 9666746 9666746 single base substitution G A intron_variant PACA-CA X 9667648 9667648 single base substitution C T intron_variant PACA-CA X 9674353 9674353 single base substitution T C intron_variant PACA-CA X 9676345 9676345 single base substitution C T intron_variant PACA-CA X 9676397 9676397 single base substitution A G intron_variant PACA-CA X 9678124 9678124 single base substitution A G intron_variant PACA-CA X 9678856 9678856 single base substitution A C intron_variant PACA-CA X 9679077 9679077 single base substitution G A intron_variant PACA-CA X 9680439 9680439 single base substitution G A intron_variant PACA-CA X 9680662 9680662 single base substitution C T intron_variant PACA-CA X 9681231 9681231 single base substitution G A intron_variant PACA-CA X 9683382 9683382 insertion of <=200bp - TGT intron_variant PACA-CA X 9686906 9686906 single base substitution G A 3_prime_UTR_variant PACA-CA X 9686906 9686906 single base substitution G A downstream_gene_variant PACA-CA X 9690401 9690401 single base substitution C T downstream_gene_variant PACA-CA X 9692011 9692011 single base substitution A T downstream_gene_variant PAEN-AU X 9438838 9438838 single base substitution C T intron_variant PAEN-AU X 9467887 9467887 single base substitution G T intron_variant PAEN-AU X 9469780 9469780 single base substitution C A intron_variant PAEN-AU X 9497094 9497094 single base substitution G T intron_variant PAEN-AU X 9583032 9583032 single base substitution A T intron_variant PAEN-AU X 9595299 9595299 single base substitution C T intron_variant PAEN-AU X 9596357 9596357 single base substitution C A intron_variant PAEN-AU X 9630661 9630661 single base substitution A G intron_variant PAEN-AU X 9655079 9655079 single base substitution T G downstream_gene_variant PAEN-AU X 9655079 9655079 single base substitution T G intron_variant PAEN-AU X 9665378 9665381 deletion of <=200bp ACTA - intron_variant PAEN-IT X 9564639 9564639 single base substitution G C intron_variant PAEN-IT X 9611968 9611968 single base substitution G C intron_variant PAEN-IT X 9616529 9616529 single base substitution A C downstream_gene_variant PAEN-IT X 9616529 9616529 single base substitution A C intron_variant PBCA-DE X 9426982 9426982 single base substitution C T upstream_gene_variant PBCA-DE X 9427895 9427895 single base substitution G T upstream_gene_variant PBCA-DE X 9428643 9428643 insertion of <=200bp - T upstream_gene_variant PBCA-DE X 9429547 9429547 single base substitution G A upstream_gene_variant PBCA-DE X 9430026 9430026 single base substitution G A upstream_gene_variant PBCA-DE X 9431136 9431136 single base substitution T C upstream_gene_variant PBCA-DE X 9439682 9439682 single base substitution G A intron_variant PBCA-DE X 9441469 9441469 single base substitution A G intron_variant PBCA-DE X 9445269 9445269 insertion of <=200bp - T intron_variant PBCA-DE X 9447979 9447980 deletion of <=200bp TG - intron_variant PBCA-DE X 9452358 9452359 deletion of <=200bp AC - intron_variant PBCA-DE X 9458831 9458832 deletion of <=200bp TT - intron_variant PBCA-DE X 9458860 9458860 single base substitution A T intron_variant PBCA-DE X 9463436 9463436 deletion of <=200bp T - intron_variant PBCA-DE X 9464518 9464518 single base substitution G T intron_variant PBCA-DE X 9468095 9468095 single base substitution C T intron_variant PBCA-DE X 9475863 9475863 single base substitution C T intron_variant PBCA-DE X 9484634 9484634 single base substitution C T intron_variant PBCA-DE X 9492079 9492079 insertion of <=200bp - G intron_variant PBCA-DE X 9493396 9493396 single base substitution C A intron_variant PBCA-DE X 9496989 9496989 single base substitution G A intron_variant PBCA-DE X 9496990 9496990 single base substitution C A intron_variant PBCA-DE X 9504415 9504415 single base substitution G A intron_variant PBCA-DE X 9507648 9507648 single base substitution C T intron_variant PBCA-DE X 9512366 9512366 single base substitution G T intron_variant PBCA-DE X 9531405 9531405 single base substitution A G intron_variant PBCA-DE X 9535673 9535673 single base substitution A G intron_variant PBCA-DE X 9536639 9536640 deletion of <=200bp TG - intron_variant PBCA-DE X 9541378 9541378 single base substitution A G intron_variant PBCA-DE X 9543090 9543090 single base substitution G A intron_variant PBCA-DE X 9554467 9554467 single base substitution G C intron_variant PBCA-DE X 9555222 9555222 single base substitution C A intron_variant PBCA-DE X 9559141 9559141 deletion of <=200bp G - intron_variant PBCA-DE X 9560312 9560312 single base substitution G A intron_variant PBCA-DE X 9560840 9560840 single base substitution T G intron_variant PBCA-DE X 9564211 9564211 single base substitution T G intron_variant PBCA-DE X 9565679 9565679 single base substitution G A intron_variant PBCA-DE X 9571338 9571338 single base substitution C T intron_variant PBCA-DE X 9576837 9576837 single base substitution A T intron_variant PBCA-DE X 9577452 9577453 deletion of <=200bp GT - intron_variant PBCA-DE X 9587828 9587828 single base substitution G T intron_variant PBCA-DE X 9599040 9599041 deletion of <=200bp AT - intron_variant PBCA-DE X 9599493 9599493 single base substitution G A intron_variant PBCA-DE X 9603262 9603262 single base substitution G T intron_variant PBCA-DE X 9603262 9603262 single base substitution G T upstream_gene_variant PBCA-DE X 9612704 9612704 single base substitution T C intron_variant PBCA-DE X 9616535 9616535 single base substitution A C downstream_gene_variant PBCA-DE X 9616535 9616535 single base substitution A C intron_variant PBCA-DE X 9628139 9628139 single base substitution G C intron_variant PBCA-DE X 9632753 9632753 single base substitution T A intron_variant PBCA-DE X 9645531 9645531 single base substitution C A intron_variant PBCA-DE X 9647124 9647124 insertion of <=200bp - A intron_variant PBCA-DE X 9649611 9649611 single base substitution C A intron_variant PBCA-DE X 9649713 9649713 single base substitution C T intron_variant PBCA-DE X 9652876 9652876 deletion of <=200bp C - downstream_gene_variant PBCA-DE X 9652876 9652876 deletion of <=200bp C - intron_variant PBCA-DE X 9655644 9655644 single base substitution C T downstream_gene_variant PBCA-DE X 9655644 9655644 single base substitution C T intron_variant PBCA-DE X 9662045 9662045 single base substitution G T intron_variant PBCA-DE X 9667124 9667124 single base substitution G A intron_variant PBCA-DE X 9689516 9689516 single base substitution G T downstream_gene_variant PRAD-CA X 9429324 9429324 single base substitution A C upstream_gene_variant PRAD-CA X 9432603 9432603 single base substitution T C intron_variant PRAD-CA X 9432603 9432603 single base substitution T C upstream_gene_variant PRAD-CA X 9457412 9457412 single base substitution C T intron_variant PRAD-CA X 9510535 9510535 single base substitution A G intron_variant PRAD-CA X 9559297 9559297 single base substitution T C intron_variant PRAD-CA X 9572187 9572187 single base substitution C T intron_variant PRAD-CA X 9574627 9574627 single base substitution G T intron_variant PRAD-CA X 9588833 9588833 single base substitution C A intron_variant PRAD-CA X 9594445 9594445 single base substitution C G intron_variant PRAD-CA X 9620967 9620967 single base substitution G T intron_variant PRAD-CA X 9630789 9630789 single base substitution T G intron_variant PRAD-CA X 9638879 9638879 single base substitution A T intron_variant PRAD-CA X 9668559 9668559 single base substitution C A intron_variant PRAD-CA X 9669870 9669870 single base substitution G A intron_variant PRAD-CA X 9681941 9681941 single base substitution G T intron_variant PRAD-UK X 9451547 9451547 single base substitution C T intron_variant PRAD-UK X 9464417 9464417 insertion of <=200bp - CTCCA intron_variant PRAD-UK X 9475980 9475983 multiple base substitution (>=2bp and <=200bp) ATTC ACT intron_variant PRAD-UK X 9479290 9479290 single base substitution G A intron_variant PRAD-UK X 9482307 9482309 deletion of <=200bp AAT - intron_variant PRAD-UK X 9482309 9482309 single base substitution T C intron_variant PRAD-UK X 9486888 9486888 single base substitution G C intron_variant PRAD-UK X 9492190 9492190 insertion of <=200bp - T intron_variant PRAD-UK X 9522933 9522933 single base substitution T C intron_variant PRAD-UK X 9526579 9526579 single base substitution A T intron_variant PRAD-UK X 9612264 9612264 single base substitution A C intron_variant PRAD-UK X 9617931 9617931 single base substitution C G downstream_gene_variant PRAD-UK X 9617931 9617931 single base substitution C G intron_variant PRAD-UK X 9627844 9627844 single base substitution T G intron_variant PRAD-UK X 9666748 9666748 single base substitution C T intron_variant PRAD-UK X 9672143 9672143 single base substitution C G intron_variant PRAD-UK X 9676278 9676278 single base substitution C T intron_variant RECA-EU X 9427389 9427389 single base substitution G C upstream_gene_variant RECA-EU X 9445913 9445913 single base substitution G T intron_variant RECA-EU X 9453077 9453077 single base substitution G T intron_variant RECA-EU X 9462038 9462038 single base substitution A T intron_variant RECA-EU X 9466394 9466394 single base substitution T G intron_variant RECA-EU X 9470323 9470323 single base substitution C T intron_variant RECA-EU X 9481011 9481011 single base substitution C A intron_variant RECA-EU X 9482117 9482117 single base substitution C A intron_variant RECA-EU X 9482118 9482118 single base substitution A G intron_variant RECA-EU X 9484630 9484630 single base substitution A G intron_variant RECA-EU X 9484689 9484689 single base substitution T A intron_variant RECA-EU X 9485565 9485565 single base substitution C A intron_variant RECA-EU X 9507940 9507940 single base substitution T G intron_variant RECA-EU X 9542492 9542492 single base substitution C G intron_variant RECA-EU X 9559287 9559287 single base substitution C A intron_variant RECA-EU X 9563978 9563978 single base substitution C T intron_variant RECA-EU X 9571477 9571477 single base substitution A G intron_variant RECA-EU X 9583201 9583201 single base substitution A T intron_variant RECA-EU X 9585260 9585260 single base substitution T A intron_variant RECA-EU X 9599617 9599617 single base substitution A G intron_variant RECA-EU X 9600730 9600730 single base substitution T C intron_variant RECA-EU X 9600808 9600808 single base substitution G C intron_variant RECA-EU X 9600809 9600809 single base substitution G T intron_variant RECA-EU X 9621480 9621480 single base substitution C T intron_variant RECA-EU X 9622489 9622489 single base substitution T A downstream_gene_variant RECA-EU X 9622489 9622489 single base substitution T A intron_variant RECA-EU X 9628580 9628580 single base substitution T A intron_variant RECA-EU X 9638031 9638031 single base substitution A T intron_variant RECA-EU X 9639014 9639014 single base substitution C G intron_variant RECA-EU X 9649501 9649501 single base substitution C T intron_variant RECA-EU X 9653793 9653793 single base substitution C G downstream_gene_variant RECA-EU X 9653793 9653793 single base substitution C G intron_variant RECA-EU X 9660809 9660809 single base substitution A T downstream_gene_variant RECA-EU X 9660809 9660809 single base substitution A T intron_variant RECA-EU X 9671161 9671161 single base substitution C T intron_variant SKCA-BR X 9428309 9428309 insertion of <=200bp - TTTTCTTTC upstream_gene_variant SKCA-BR X 9428772 9428772 single base substitution G A upstream_gene_variant SKCA-BR X 9428841 9428841 single base substitution A G upstream_gene_variant SKCA-BR X 9434025 9434025 single base substitution T G intron_variant SKCA-BR X 9434055 9434055 single base substitution G C intron_variant SKCA-BR X 9434801 9434801 single base substitution G A intron_variant SKCA-BR X 9440581 9440581 single base substitution A T intron_variant SKCA-BR X 9441206 9441206 single base substitution C T intron_variant SKCA-BR X 9446130 9446130 single base substitution G A intron_variant SKCA-BR X 9451050 9451050 single base substitution G T intron_variant SKCA-BR X 9459346 9459346 insertion of <=200bp - TTATA intron_variant SKCA-BR X 9459366 9459381 deletion of <=200bp ATATATATATATATTT - intron_variant SKCA-BR X 9459380 9459380 single base substitution T A intron_variant SKCA-BR X 9463932 9463934 deletion of <=200bp CAT - intron_variant SKCA-BR X 9467091 9467091 single base substitution G A intron_variant SKCA-BR X 9470216 9470216 single base substitution C T intron_variant SKCA-BR X 9471981 9471981 single base substitution T G intron_variant SKCA-BR X 9483451 9483451 single base substitution T A intron_variant SKCA-BR X 9488225 9488225 single base substitution G A intron_variant SKCA-BR X 9488226 9488226 single base substitution G A intron_variant SKCA-BR X 9488801 9488801 insertion of <=200bp - AT intron_variant SKCA-BR X 9494593 9494593 single base substitution C T intron_variant SKCA-BR X 9496757 9496757 single base substitution C G intron_variant SKCA-BR X 9499785 9499785 single base substitution C T intron_variant SKCA-BR X 9499785 9499785 single base substitution C T upstream_gene_variant SKCA-BR X 9504992 9504992 single base substitution C T intron_variant SKCA-BR X 9507582 9507582 single base substitution C T intron_variant SKCA-BR X 9507583 9507583 single base substitution C T intron_variant SKCA-BR X 9508243 9508243 single base substitution T C intron_variant SKCA-BR X 9510580 9510580 single base substitution C T intron_variant SKCA-BR X 9512056 9512056 single base substitution C T intron_variant SKCA-BR X 9513034 9513034 single base substitution C T intron_variant SKCA-BR X 9522244 9522244 single base substitution C T intron_variant SKCA-BR X 9523612 9523612 single base substitution T G intron_variant SKCA-BR X 9525851 9525851 single base substitution G A intron_variant SKCA-BR X 9527903 9527904 deletion of <=200bp GA - intron_variant SKCA-BR X 9527904 9527904 single base substitution A T intron_variant SKCA-BR X 9527905 9527906 deletion of <=200bp TC - intron_variant SKCA-BR X 9527906 9527906 single base substitution C T intron_variant SKCA-BR X 9534344 9534344 single base substitution G A intron_variant SKCA-BR X 9543422 9543422 single base substitution C T intron_variant SKCA-BR X 9545099 9545099 single base substitution T C intron_variant SKCA-BR X 9552809 9552809 single base substitution A C intron_variant SKCA-BR X 9555845 9555845 single base substitution A C intron_variant SKCA-BR X 9558208 9558208 single base substitution G A intron_variant SKCA-BR X 9558427 9558427 single base substitution G A intron_variant SKCA-BR X 9560134 9560134 single base substitution C T intron_variant SKCA-BR X 9560252 9560252 single base substitution C T intron_variant SKCA-BR X 9561356 9561356 single base substitution C T intron_variant SKCA-BR X 9561448 9561448 single base substitution T A intron_variant SKCA-BR X 9564623 9564623 single base substitution G A intron_variant SKCA-BR X 9565339 9565339 single base substitution G A intron_variant SKCA-BR X 9565523 9565523 single base substitution C T intron_variant SKCA-BR X 9566954 9566954 insertion of <=200bp - TTTTG intron_variant SKCA-BR X 9568515 9568515 insertion of <=200bp - GGA intron_variant SKCA-BR X 9569264 9569264 single base substitution C A intron_variant SKCA-BR X 9579951 9579951 single base substitution C T intron_variant SKCA-BR X 9582025 9582025 insertion of <=200bp - CA intron_variant SKCA-BR X 9584870 9584870 single base substitution C T intron_variant SKCA-BR X 9591474 9591474 single base substitution C T intron_variant SKCA-BR X 9591475 9591475 single base substitution C T intron_variant SKCA-BR X 9601208 9601208 single base substitution T C intron_variant SKCA-BR X 9602525 9602525 single base substitution G C intron_variant SKCA-BR X 9602573 9602573 single base substitution A T intron_variant SKCA-BR X 9604525 9604525 insertion of <=200bp - AAAC intron_variant SKCA-BR X 9604525 9604525 insertion of <=200bp - AAAC upstream_gene_variant SKCA-BR X 9604565 9604565 insertion of <=200bp - AACC intron_variant SKCA-BR X 9604565 9604565 insertion of <=200bp - AACC upstream_gene_variant SKCA-BR X 9604743 9604743 single base substitution T G intron_variant SKCA-BR X 9604743 9604743 single base substitution T G upstream_gene_variant SKCA-BR X 9604744 9604744 single base substitution C T intron_variant SKCA-BR X 9604744 9604744 single base substitution C T upstream_gene_variant SKCA-BR X 9613990 9613990 single base substitution G A downstream_gene_variant SKCA-BR X 9613990 9613990 single base substitution G A intron_variant SKCA-BR X 9620890 9620890 insertion of <=200bp - CA intron_variant SKCA-BR X 9622450 9622450 insertion of <=200bp - TAGA downstream_gene_variant SKCA-BR X 9622450 9622450 insertion of <=200bp - TAGA intron_variant SKCA-BR X 9623105 9623105 single base substitution C T downstream_gene_variant SKCA-BR X 9623105 9623105 single base substitution C T intron_variant SKCA-BR X 9623203 9623203 single base substitution C T downstream_gene_variant SKCA-BR X 9623203 9623203 single base substitution C T intron_variant SKCA-BR X 9624695 9624695 single base substitution A G downstream_gene_variant SKCA-BR X 9624695 9624695 single base substitution A G intron_variant SKCA-BR X 9627374 9627374 single base substitution A T intron_variant SKCA-BR X 9632737 9632737 single base substitution T G intron_variant SKCA-BR X 9632893 9632893 single base substitution A G intron_variant SKCA-BR X 9641597 9641597 single base substitution C T intron_variant SKCA-BR X 9643980 9643980 single base substitution G A intron_variant SKCA-BR X 9643986 9643986 single base substitution G A intron_variant SKCA-BR X 9644353 9644353 single base substitution A C intron_variant SKCA-BR X 9644360 9644360 single base substitution A C intron_variant SKCA-BR X 9657482 9657482 single base substitution G A downstream_gene_variant SKCA-BR X 9657482 9657482 single base substitution G A intron_variant SKCA-BR X 9658750 9658750 single base substitution G T downstream_gene_variant SKCA-BR X 9658750 9658750 single base substitution G T intron_variant SKCA-BR X 9659753 9659753 single base substitution T A downstream_gene_variant SKCA-BR X 9659753 9659753 single base substitution T A splice_donor_variant SKCA-BR X 9665572 9665572 single base substitution G A intron_variant SKCA-BR X 9669554 9669554 single base substitution G A intron_variant SKCA-BR X 9670647 9670647 insertion of <=200bp - GAA intron_variant SKCA-BR X 9672170 9672170 single base substitution G A intron_variant SKCA-BR X 9674375 9674375 single base substitution C T intron_variant SKCA-BR X 9675331 9675331 single base substitution C T intron_variant SKCA-BR X 9676764 9676764 single base substitution A G intron_variant SKCA-BR X 9677072 9677072 single base substitution T G intron_variant SKCA-BR X 9678205 9678205 single base substitution G A intron_variant SKCA-BR X 9679301 9679301 single base substitution G T intron_variant SKCA-BR X 9681459 9681459 single base substitution G A intron_variant SKCA-BR X 9684388 9684388 single base substitution T C 3_prime_UTR_variant SKCA-BR X 9684388 9684388 single base substitution T C downstream_gene_variant SKCA-BR X 9685519 9685519 single base substitution A G 3_prime_UTR_variant SKCA-BR X 9685519 9685519 single base substitution A G downstream_gene_variant SKCA-BR X 9686911 9686911 single base substitution A G 3_prime_UTR_variant SKCA-BR X 9686911 9686911 single base substitution A G downstream_gene_variant SKCM-US X 9622287 9622287 single base substitution C T 5_prime_UTR_variant SKCM-US X 9622287 9622287 single base substitution C T missense_variant P46S 136C>T SKCM-US X 9659683 9659683 single base substitution C A downstream_gene_variant SKCM-US X 9659683 9659683 single base substitution C A synonymous_variant V176V 528C>A SKCM-US X 9659683 9659683 single base substitution C A synonymous_variant V227V 681C>A SKCM-US X 9659735 9659735 single base substitution G A downstream_gene_variant SKCM-US X 9659735 9659735 single base substitution G A missense_variant D194N 580G>A SKCM-US X 9659735 9659735 single base substitution G A missense_variant D245N 733G>A SKCM-US X 9660253 9660253 single base substitution G A downstream_gene_variant SKCM-US X 9660253 9660253 single base substitution G A missense_variant D233N 697G>A SKCM-US X 9660253 9660253 single base substitution G A missense_variant D284N 850G>A SKCM-US X 9665457 9665457 single base substitution C T missense_variant P317S 949C>T SKCM-US X 9665457 9665457 single base substitution C T missense_variant P368S 1102C>T STAD-US X 9656197 9656197 single base substitution T G downstream_gene_variant STAD-US X 9656197 9656197 single base substitution T G synonymous_variant A115A 345T>G STAD-US X 9656197 9656197 single base substitution T G synonymous_variant A166A 498T>G STAD-US X 9656277 9656277 single base substitution C T downstream_gene_variant STAD-US X 9656277 9656277 single base substitution C T missense_variant A142V 425C>T STAD-US X 9656277 9656277 single base substitution C T missense_variant A193V 578C>T STAD-US X 9660159 9660159 single base substitution A G downstream_gene_variant STAD-US X 9660159 9660159 single base substitution A G synonymous_variant G201G 603A>G STAD-US X 9660159 9660159 single base substitution A G synonymous_variant G252G 756A>G STAD-US X 9661211 9661211 single base substitution C T missense_variant T254M 761C>T STAD-US X 9661211 9661211 single base substitution C T missense_variant T305M 914C>T STAD-US X 9665416 9665416 single base substitution T G missense_variant I303R 908T>G STAD-US X 9665416 9665416 single base substitution T G missense_variant I354R 1061T>G STAD-US X 9677345 9677345 single base substitution G A missense_variant D381N 1141G>A STAD-US X 9677345 9677345 single base substitution G A missense_variant D432N 1294G>A STAD-US X 9679717 9679717 single base substitution G A synonymous_variant T451T 1353G>A STAD-US X 9679717 9679717 single base substitution G A synonymous_variant T502T 1506G>A STAD-US X 9679769 9679769 single base substitution T G missense_variant L469V 1405T>G STAD-US X 9679769 9679769 single base substitution T G missense_variant L520V 1558T>G STAD-US X 9679787 9679787 single base substitution G A missense_variant D475N 1423G>A STAD-US X 9679787 9679787 single base substitution G A missense_variant D526N 1576G>A UCEC-US X 9621667 9621667 single base substitution G A 5_prime_UTR_variant UCEC-US X 9621667 9621667 single base substitution G A intron_variant UCEC-US X 9621667 9621667 single base substitution G A missense_variant R14H 41G>A UCEC-US X 9621685 9621685 single base substitution C T 5_prime_UTR_variant UCEC-US X 9621685 9621685 single base substitution C T intron_variant UCEC-US X 9621685 9621685 single base substitution C T missense_variant A20V 59C>T UCEC-US X 9656071 9656071 single base substitution C T downstream_gene_variant UCEC-US X 9656071 9656071 single base substitution C T synonymous_variant F124F 372C>T UCEC-US X 9656071 9656071 single base substitution C T synonymous_variant F73F 219C>T UCEC-US X 9656079 9656079 single base substitution G A downstream_gene_variant UCEC-US X 9656079 9656079 single base substitution G A missense_variant R127H 380G>A UCEC-US X 9656079 9656079 single base substitution G A missense_variant R76H 227G>A UCEC-US X 9656197 9656197 single base substitution T G downstream_gene_variant UCEC-US X 9656197 9656197 single base substitution T G synonymous_variant A115A 345T>G UCEC-US X 9656197 9656197 single base substitution T G synonymous_variant A166A 498T>G UCEC-US X 9656230 9656230 single base substitution G A downstream_gene_variant UCEC-US X 9656230 9656230 single base substitution G A synonymous_variant T126T 378G>A UCEC-US X 9656230 9656230 single base substitution G A synonymous_variant T177T 531G>A UCEC-US X 9656242 9656242 single base substitution C T downstream_gene_variant UCEC-US X 9656242 9656242 single base substitution C T synonymous_variant G130G 390C>T UCEC-US X 9656242 9656242 single base substitution C T synonymous_variant G181G 543C>T UCEC-US X 9656302 9656302 single base substitution A G downstream_gene_variant UCEC-US X 9656302 9656302 single base substitution A G synonymous_variant R150R 450A>G UCEC-US X 9656302 9656302 single base substitution A G synonymous_variant R201R 603A>G UCEC-US X 9659626 9659626 single base substitution C T downstream_gene_variant UCEC-US X 9659626 9659626 single base substitution C T synonymous_variant H157H 471C>T UCEC-US X 9659626 9659626 single base substitution C T synonymous_variant H208H 624C>T UCEC-US X 9659749 9659749 single base substitution C T downstream_gene_variant UCEC-US X 9659749 9659749 single base substitution C T splice_region_variant UCEC-US X 9660239 9660239 single base substitution G A downstream_gene_variant UCEC-US X 9660239 9660239 single base substitution G A missense_variant R228Q 683G>A UCEC-US X 9660239 9660239 single base substitution G A missense_variant R279Q 836G>A UCEC-US X 9660259 9660259 single base substitution C T downstream_gene_variant UCEC-US X 9660259 9660259 single base substitution C T missense_variant P235S 703C>T UCEC-US X 9660259 9660259 single base substitution C T missense_variant P286S 856C>T UCEC-US X 9661249 9661249 single base substitution G T missense_variant D267Y 799G>T UCEC-US X 9661249 9661249 single base substitution G T missense_variant D318Y 952G>T UCEC-US X 9661422 9661422 single base substitution G A missense_variant R288Q 863G>A UCEC-US X 9661422 9661422 single base substitution G A missense_variant R339Q 1016G>A UCEC-US X 9679795 9679795 single base substitution C T synonymous_variant C477C 1431C>T UCEC-US X 9679795 9679795 single base substitution C T synonymous_variant C528C 1584C>T UCEC-US X 9682941 9682941 single base substitution G A splice_acceptor_variant UCEC-US X 9683001 9683001 single base substitution C T synonymous_variant N504N 1512C>T UCEC-US X 9683001 9683001 single base substitution C T synonymous_variant N555N 1665C>T UCEC-US X 9683031 9683031 single base substitution G A synonymous_variant A514A 1542G>A UCEC-US X 9683031 9683031 single base substitution G A synonymous_variant A565A 1695G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-HJ-7597-01 COSM4111636 c.1294G>A p.D432N Substitution - Missense 23:9709305-9709305 + TCGA-A8-A06O-01 COSM458196 c.947C>T p.T316M Substitution - Missense 23:9693204-9693204 + pfg143T COSM4749777 c.1700A>G p.D567G Substitution - Missense 23:9714996-9714996 + TCGA-C8-A12P-01 COSM458191 c.94C>T p.R32* Substitution - Nonsense 23:9653680-9653680 + TCGA-A2-A3XT-01 COSM3845582 c.907T>C p.L303L Substitution - coding silent 23:9693164-9693164 + T276 COSM4732469 c.834A>G p.I278M Substitution - Missense 23:9692197-9692197 + CCK81 COSM3143822 c.1505C>T p.T502M Substitution - Missense 23:9711676-9711676 + C086 COSM5540152 c.1708-1G>A p.? Unknown 23:9716219-9716219 + TCGA-A8-A09Z-01 COSM1469915 c.625G>A p.A209T Substitution - Missense 23:9691587-9691587 + D6 COSM5007265 c.1293G>A p.S431S Substitution - coding silent 23:9709304-9709304 + TCGA-AP-A056-01 COSM1126517 c.1584C>T p.C528C Substitution - coding silent 23:9711755-9711755 + TCGA-PJ-A5Z9-01 COSM3992603 c.1667C>T p.A556V Substitution - Missense 23:9714963-9714963 + TCGA-D1-A165-01 COSM1126523 c.1695G>A p.A565A Substitution - coding silent 23:9714991-9714991 + TCGA-BR-4184-01 COSM4111628 c.578C>T p.A193V Substitution - Missense 23:9688237-9688237 + 3N26-VS-3T26 COSM4980216 c.615C>T p.V205V Substitution - coding silent 23:9688274-9688274 + TCGA-GN-A26C-01 COSM3564115 c.681C>A p.V227V Substitution - coding silent 23:9691643-9691643 + TCGA-BR-8485-01 COSM4111634 c.1061T>G p.I354R Substitution - Missense 23:9697376-9697376 + TCGA-CD-A4MG-01 COSM4111642 c.1576G>A p.D526N Substitution - Missense 23:9711747-9711747 + TCGA-CF-A3MG-01 COSM1315723 c.694G>T p.E232* Substitution - Nonsense 23:9691656-9691656 + CSCC-35-T COSM4495262 c.44C>T p.P15L Substitution - Missense 23:9653630-9653630 + RK267_C01 COSM4946450 c.1237-3C>T p.? Unknown 23:9709245-9709245 + TCGA-FP-A4BE-01 COSM1126492 c.498T>G p.A166A Substitution - coding silent 23:9688157-9688157 + TCGA-AA-3695-01 COSM268463 c.686G>A p.R229Q Substitution - Missense 23:9691648-9691648 + TCGA-AX-A05Y-01 COSM1126521 c.1665C>T p.N555N Substitution - coding silent 23:9714961-9714961 + T3049 COSM4732467 c.776G>A p.W259* Substitution - Nonsense 23:9692139-9692139 + T3498 COSM4732471 c.1094A>G p.Q365R Substitution - Missense 23:9697409-9697409 + TCGA-CJ-4639-01 COSM3364131 c.1376C>A p.T459N Substitution - Missense 23:9709697-9709697 + CSCC-40-T COSM4563759 c.988G>A p.G330S Substitution - Missense 23:9693354-9693354 + TCGA-BR-8680-01 COSM4111638 c.1506G>A p.T502T Substitution - coding silent 23:9711677-9711677 + YUNOCA COSM1714614 c.86A>G p.Q29R Substitution - Missense 23:9653672-9653672 + ME009T COSM224109 c.824G>A p.R275K Substitution - Missense 23:9692187-9692187 + TCGA-BR-8363-01 COSM4111630 c.756A>G p.G252G Substitution - coding silent 23:9692119-9692119 + TCGA-B5-A11E-01 COSM1126496 c.543C>T p.G181G Substitution - coding silent 23:9688202-9688202 + TCGA-AA-3875-01 COSM272196 c.857C>T p.P286L Substitution - Missense 23:9692220-9692220 + ACC-3 COSM3786789 c.685C>T p.R229W Substitution - Missense 23:9691647-9691647 + pfg076T COSM4749773 c.1556A>T p.Y519F Substitution - Missense 23:9711727-9711727 + T5 COSM5619379 c.1641C>T p.G547G Substitution - coding silent 23:9714937-9714937 + XHDG35 COSM4769619 c.76C>A p.H26N Substitution - Missense 23:9653662-9653662 + Gp2D COSM3143802 c.1046T>C p.V349A Substitution - Missense 23:9693412-9693412 + DLD1 COSM4626605 c.191A>G p.Y64C Substitution - Missense 23:9654302-9654302 + TCGA-G4-6628-01 COSM1469913 c.411C>T p.A137A Substitution - coding silent 23:9688070-9688070 + TCGA-B5-A0JY-01 COSM1126486 c.372C>T p.F124F Substitution - coding silent 23:9688031-9688031 + TCGA-BS-A0U8-01 COSM1126506 c.856C>T p.P286S Substitution - Missense 23:9692219-9692219 + PT34 COSM5911180 c.1021G>A p.G341R Substitution - Missense 23:9693387-9693387 + HCC147T COSM3708752 c.134C>T p.S45L Substitution - Missense 23:9654245-9654245 + TCGA-EE-A20H-06 COSM3564119 c.850G>A p.D284N Substitution - Missense 23:9692213-9692213 + TCGA-BG-A0MQ-01 COSM1126492 c.498T>G p.A166A Substitution - coding silent 23:9688157-9688157 + LUAD-NYU201 COSM371509 c.290C>T p.P97L Substitution - Missense 23:9684121-9684121 + Gp2D COSM1126477 c.59C>T p.A20V Substitution - Missense 23:9653645-9653645 + TCGA-12-0692-01 COSM3406683 c.544G>A p.V182I Substitution - Missense 23:9688203-9688203 + TCGA-B5-A0JY-01 COSM1126511 c.1016G>A p.R339Q Substitution - Missense 23:9693382-9693382 + sysucc-1116T COSM5483147 c.1585G>A p.V529I Substitution - Missense 23:9711756-9711756 + I2L-P24Ta-Tumor-Biopsy COSM3143817 c.1284A>G p.A428A Substitution - coding silent 23:9709295-9709295 + PT46 COSM5930161 c.1067G>A p.W356* Substitution - Nonsense 23:9697382-9697382 + TCGA-CZ-4857-01 COSM3364129 c.808A>G p.T270A Substitution - Missense 23:9692171-9692171 + BD117T COSM5507445 c.354C>T p.N118N Substitution - coding silent 23:9684185-9684185 + TCGA-F4-6570-01 COSM1469917 c.799delG p.G268fs*7 Deletion - Frameshift 23:9692162-9692162 + CHC796T COSM4954136 c.1335G>A p.V445V Substitution - coding silent 23:9709656-9709656 + CSCC-40-T COSM4589895 c.984_985insA p.G330fs*47 Insertion - Frameshift 23:9693350-9693351 + TCGA-AP-A0LM-01 COSM1126477 c.59C>T p.A20V Substitution - Missense 23:9653645-9653645 + Gp5D COSM3143802 c.1046T>C p.V349A Substitution - Missense 23:9693412-9693412 + YUROG COSM3564121 c.1102C>T p.P368S Substitution - Missense 23:9697417-9697417 + ORL-48 COSM4188450 c.1445C>T p.S482L Substitution - Missense 23:9711616-9711616 + TCGA-AA-3695-01 COSM268465 c.1726C>T p.R576W Substitution - Missense 23:9716238-9716238 + CHC1725T COSM4800688 c.1482A>T p.R494R Substitution - coding silent 23:9711653-9711653 + AOCS-135-3-1 COSM4136431 c.94C>G p.R32G Substitution - Missense 23:9653680-9653680 + LIM2405 COSM4643423 c.1059A>G p.T353T Substitution - coding silent 23:9697374-9697374 + I2L-P24Ta-Tumor-Organoid COSM3143817 c.1284A>G p.A428A Substitution - coding silent 23:9709295-9709295 + pfg181T COSM4746665 c.481_483delGCG p.A168delA Deletion - In frame 23:9688140-9688142 + 2497779 COSM5750770 c.695A>G p.E232G Substitution - Missense 23:9691657-9691657 + 587230 COSM1228654 c.1075C>T p.H359Y Substitution - Missense 23:9697390-9697390 + T3091 COSM4732463 c.463G>A p.A155T Substitution - Missense 23:9688122-9688122 + TCGA-HU-A4H3-01 COSM4111632 c.914C>T p.T305M Substitution - Missense 23:9693171-9693171 + Pat_70_A COSM5878418 c.1132G>A p.D378N Substitution - Missense 23:9705010-9705010 + BK0033 COSM4186984 c.327G>T p.Q109H Substitution - Missense 23:9684158-9684158 + 2492730 COSM5728245 c.1286C>T p.S429F Substitution - Missense 23:9709297-9709297 + 07-P8041 COSM1469913 c.411C>T p.A137A Substitution - coding silent 23:9688070-9688070 + YUVEME COSM5413219 c.451C>T p.R151* Substitution - Nonsense 23:9688110-9688110 + TCGA-DG-A2KK-01 COSM4828354 c.1140G>C p.Q380H Substitution - Missense 23:9705018-9705018 + PCSI_0256_Pa_P_526 COSM3143790 c.798C>T p.N266N Substitution - coding silent 23:9692161-9692161 + TCGA-AP-A0LM-01 COSM1126475 c.41G>A p.R14H Substitution - Missense 23:9653627-9653627 + I2L-P24Tb-Tumor-Biopsy COSM3143817 c.1284A>G p.A428A Substitution - coding silent 23:9709295-9709295 + TCGA-AN-A0FD-01 COSM458198 c.1011G>T p.W337C Substitution - Missense 23:9693377-9693377 + TCGA-AX-A0J0-01 COSM1126498 c.603A>G p.R201R Substitution - coding silent 23:9688262-9688262 + ATL050 COSM5711798 c.379C>T p.R127C Substitution - Missense 23:9688038-9688038 + HCC101 COSM1626191 c.862A>G p.N288D Substitution - Missense 23:9692225-9692225 + pfg076T COSM4749775 c.1684G>A p.G562S Substitution - Missense 23:9714980-9714980 + T3147 COSM4732465 c.626C>T p.A209V Substitution - Missense 23:9691588-9691588 + T3262 COSM1126521 c.1665C>T p.N555N Substitution - coding silent 23:9714961-9714961 + 155-01-1TD COSM5418788 c.676A>G p.T226A Substitution - Missense 23:9691638-9691638 + BK0063 COSM4188450 c.1445C>T p.S482L Substitution - Missense 23:9711616-9711616 + sysucc-834T COSM5486810 c.1486G>A p.V496I Substitution - Missense 23:9711657-9711657 + TCGA-RC-A7SF-01 COSM4923186 c.1287C>G p.S429S Substitution - coding silent 23:9709298-9709298 + TCGA-FU-A3TQ-01 COSM4854873 c.801G>A p.G267G Substitution - coding silent 23:9692164-9692164 + CHC1725T COSM4800688 c.1482A>T p.R494R Substitution - coding silent 23:9711653-9711653 + TCGA-A1-A0SE-01 COSM458194 c.621T>C p.N207N Substitution - coding silent 23:9691583-9691583 + CHC796T COSM4954136 c.1335G>A p.V445V Substitution - coding silent 23:9709656-9709656 + YUKAT COSM5413221 c.690C>T p.G230G Substitution - coding silent 23:9691652-9691652 + TCGA-AP-A056-01 COSM1126504 c.836G>A p.R279Q Substitution - Missense 23:9692199-9692199 + TCGA-25-1632-01 COSM78618 c.1146C>A p.N382K Substitution - Missense 23:9705024-9705024 + PCSI_0083_Pa_X COSM3786789 c.685C>T p.R229W Substitution - Missense 23:9691647-9691647 + PCSI_0083_Pa_P_526 COSM3786789 c.685C>T p.R229W Substitution - Missense 23:9691647-9691647 + HCC147 COSM3708752 c.134C>T p.S45L Substitution - Missense 23:9654245-9654245 + TCGA-AA-3848-01 COSM295510 c.1698C>T p.S566S Substitution - coding silent 23:9714994-9714994 + TCGA-AP-A051-01 COSM1126488 c.380G>A p.R127H Substitution - Missense 23:9688039-9688039 + ATL069 COSM371509 c.290C>T p.P97L Substitution - Missense 23:9684121-9684121 + AOCS-135-8-X COSM4136431 c.94C>G p.R32G Substitution - Missense 23:9653680-9653680 + TCGA-AP-A056-01 COSM1126509 c.952G>T p.D318Y Substitution - Missense 23:9693209-9693209 + TCGA-AA-3715-01 COSM270303 c.690delC p.H231fs*17 Deletion - Frameshift 23:9691652-9691652 + PT46 COSM5930163 c.1068G>A p.W356* Substitution - Nonsense 23:9697383-9697383 + pfg316T COSM4749764 c.7G>A p.E3K Substitution - Missense 23:9653593-9653593 + pfg122T COSM4749771 c.1403C>T p.A468V Substitution - Missense 23:9709724-9709724 + TCGA-B5-A11Y-01 COSM1126500 c.624C>T p.H208H Substitution - coding silent 23:9691586-9691586 + YUFERY COSM5413223 c.948G>A p.T316T Substitution - coding silent 23:9693205-9693205 + TCGA-G4-6309-01 COSM1469902 c.138G>A p.P46P Substitution - coding silent 23:9654249-9654249 + Pat_70_B COSM5878418 c.1132G>A p.D378N Substitution - Missense 23:9705010-9705010 + T3152 COSM4732459 c.212-1G>T p.? Unknown 23:9684042-9684042 + 587278 COSM1228652 c.1531G>A p.V511I Substitution - Missense 23:9711702-9711702 + pfg054T COSM4749767 c.630G>T p.K210N Substitution - Missense 23:9691592-9691592 + TCGA-BG-A0VZ-01 COSM1126490 c.408C>T p.D136D Substitution - coding silent 23:9688067-9688067 + HCC101T COSM1626191 c.862A>G p.N288D Substitution - Missense 23:9692225-9692225 + TCGA-EE-A29M-06 COSM3564121 c.1102C>T p.P368S Substitution - Missense 23:9697417-9697417 + TCGA-A2-A0CT-01 COSM458200 c.1673G>T p.G558V Substitution - Missense 23:9714969-9714969 + Pat_46_A COSM5878416 c.218C>T p.S73F Substitution - Missense 23:9684049-9684049 + LUAD-RT-S01813 COSM383621 c.562T>C p.S188P Substitution - Missense 23:9688221-9688221 + ML_75_T_01 COSM5033638 c.749+2T>A p.? Unknown 23:9691713-9691713 + sysucc-1370T COSM5472919 c.964G>A p.A322T Substitution - Missense 23:9693330-9693330 + I2L-P24Tb-Tumor-Organoid COSM3143817 c.1284A>G p.A428A Substitution - coding silent 23:9709295-9709295 + CHOL12 COSM1126492 c.498T>G p.A166A Substitution - coding silent 23:9688157-9688157 + TCGA-BK-A0C9-01 COSM1126502 c.747C>T p.S249S Substitution - coding silent 23:9691709-9691709 + 578 COSM3723808 c.278C>T p.T93M Substitution - Missense 23:9684109-9684109 + TCGA-D3-A2JO-06 COSM3564105 c.136C>T p.P46S Substitution - Missense 23:9654247-9654247 + TCGA-B5-A11E-01 COSM1126494 c.531G>A p.T177T Substitution - coding silent 23:9688190-9688190 + TCGA-FS-A1ZZ-06 COSM3564117 c.733G>A p.D245N Substitution - Missense 23:9691695-9691695 + LAU108 COSM233545 c.392C>T p.S131F Substitution - Missense 23:9688051-9688051 + S02347 COSM5694410 c.649G>T p.E217* Substitution - Nonsense 23:9691611-9691611 + TCGA-D7-6528-01 COSM4111640 c.1558T>G p.L520V Substitution - Missense 23:9711729-9711729 + Pat_46_B COSM5878416 c.218C>T p.S73F Substitution - Missense 23:9684049-9684049 + TCGA-B5-A11R-01 COSM1126519 c.1606-1G>A p.? Unknown 23:9714901-9714901 + T3021 COSM4732461 c.340G>A p.E114K Substitution - Missense 23:9684171-9684171 + ESCC_BICR_017T COSM5442986 c.494C>T p.A165V Substitution - Missense 23:9688153-9688153 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.495566;Hs.495569;Hs.495605;Hs.495641;Hs.495656 Xp22.3 300196

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AATA - IntronicDeletion . c.1-60177_1-60174delATAA X 9561449 CLL A G IntronicSNV . c.1-123123A>G X 9498504 PIA A G IntronicSNV . c.1-68872A>G X 9552755 CLL A G Missense p.T270A c.808A>G X 9660211 RCCC C A IntronicSNV . c.1-170953C>A X 9450674 CLL C A Missense p.N382K c.1146C>A X 9673064 OV C A Missense p.T459N c.1376C>A X 9677737 RCCC C A Synonymous p.V227V c.681C>A X 9659683 CM C G IntronicSNV . c.1-136287C>G X 9485340 CLL C - IntronicDeletion . c.1605+1191delC X 9681003 CM C T Missense p.P286L c.857C>T X 9660260 COREAD C T Missense p.P286S c.856C>T X 9660259 UCEC C T Missense p.P368S c.1102C>T X 9665457 CM C T Missense p.P46S c.136C>T X 9622287 CM C T Missense p.R576W c.1726C>T X 9684278 COREAD C T Missense p.S73F c.218C>T X 9652089 CM C T Missense p.T316M c.947C>T X 9661244 BRCA C T Missense p.T93M c.278C>T X 9652149 HNSC C T Nonsense p.R32* c.94C>T X 9621720 BRCA C T Nonsense p.R339* c.1015C>T X 9661421 COREAD C T Synonymous p.D309D c.927C>T X 9661224 LUAD C T Synonymous p.F513F c.1539C>T X 9679750 HNSC C T Synonymous p.H208H c.624C>T X 9659626 UCEC C T Synonymous p.N555N c.1665C>T X 9683001 UCEC C T Synonymous p.S249S c.747C>T X 9659749 UCEC C T Synonymous p.S566S c.1698C>T X 9683034 COREAD G A Missense p.D141N c.421G>A X 9656120 CM G A Missense p.D245N c.733G>A X 9659735 CM G A Missense p.D284N c.850G>A X 9660253 CM G A Missense p.D378N c.1132G>A X 9673050 HNSC G A Missense p.R229Q c.686G>A X 9659688 COREAD G A Missense p.R275K c.824G>A X 9660227 CM G A Missense p.R557Q c.1670G>A X 9683006 HNSC G A Missense p.V182I c.544G>A X 9656243 GBM G A SpliceAcceptorSNV . c.1606-1G>A X 9682941 UCEC G T IntronicSNV . c.211+871G>T X 9623233 CLL G T Missense p.G558V c.1673G>T X 9683009 BRCA G T Missense p.V291F c.871G>T X 9660274 HNSC G T Missense p.W337C c.1011G>T X 9661417 BRCA G T Nonsense p.E232* c.694G>T X 9659696 BLCA G T Synonymous p.V142V c.426G>T X 9656125 CM T A IntronicSNV . c.1-181136T>A X 9440491 CLL T G Missense p.L520V c.1558T>G X 9679769 STAD T G Missense p.V218G c.653T>G X 9659655 CM T G Synonymous p.A166A c.498T>G X 9656197 UCEC