Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 4 122068306 122068306 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr4:122068306G>A c.864C>T c.(862-864)ttC>ttT p.F288F BLCA 4 122075810 122075810 + Nonsense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr4:122075810C>A c.619G>T c.(619-621)Gaa>Taa p.E207* BLCA 4 122078329 122078329 + Nonsense_Mutation SNP G G A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr4:122078329G>A c.514C>T c.(514-516)Cag>Tag p.Q172* BLCA 4 122078354 122078354 + Silent SNP G G C TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr4:122078354G>C c.489C>G c.(487-489)ctC>ctG p.L163L BLCA 4 122085262 122085262 + Missense_Mutation SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 g.chr4:122085262C>A c.250G>T c.(250-252)Ggc>Tgc p.G84C BRCA 4 122059806 122059806 + Missense_Mutation SNP G G A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 g.chr4:122059806G>A c.919C>T c.(919-921)Ccg>Tcg p.P307S BRCA 4 122063919 122063919 + Nonsense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr4:122063919G>A c.979C>T c.(979-981)Cag>Tag p.Q327* BRCA 4 122071373 122071373 + Splice_Site SNP G G C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 g.chr4:122071373G>C c.725C>G c.(724-726)gCt>gGt p.A242G BRCA 4 122078381 122078381 + Silent SNP C C T TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 g.chr4:122078381C>T c.462G>A c.(460-462)acG>acA p.T154T BRCA 4 122085252 122085252 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr4:122085252C>A c.260G>T c.(259-261)aGa>aTa p.R87I CESC 4 122071296 122071296 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 g.chr4:122071296C>T c.802G>A c.(802-804)Gag>Aag p.E268K CESC 4 122082291 122082291 + Splice_Site SNP C C A TCGA-LP-A4AW-01A-11D-A243-09 TCGA-LP-A4AW-10A-01D-A243-09 g.chr4:122082291C>A c.378G>T c.(376-378)gaG>gaT p.E126D CESC 4 122082365 122082365 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 g.chr4:122082365C>T c.304G>A c.(304-306)Gaa>Aaa p.E102K COAD 4 122053786 122053786 + Nonstop_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:122053786C>A c.978G>T c.(976-978)taG>taT p.*326Y COAD 4 122053796 122053796 + Missense_Mutation SNP A A G TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr4:122053796A>G c.968T>C c.(967-969)gTc>gCc p.V323A COAD 4 122053801 122053801 + Missense_Mutation SNP C C G TCGA-D5-7000-01A-11D-1924-10 TCGA-D5-7000-10A-01D-1924-10 g.chr4:122053801C>G c.963G>C c.(961-963)aaG>aaC p.K321N COAD 4 122068295 122068295 + Missense_Mutation SNP C C A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr4:122068295C>A c.875G>T c.(874-876)cGa>cTa p.R292L COAD 4 122068295 122068295 + Missense_Mutation SNP C C G TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr4:122068295C>G c.875G>C c.(874-876)cGa>cCa p.R292P COAD 4 122068296 122068296 + Nonsense_Mutation SNP G G A TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr4:122068296G>A c.874C>T c.(874-876)Cga>Tga p.R292* COAD 4 122068296 122068296 + Nonsense_Mutation SNP G G A TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr4:122068296G>A c.874C>T c.(874-876)Cga>Tga p.R292* COAD 4 122068317 122068317 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:122068317C>T c.853G>A c.(853-855)Gaa>Aaa p.E285K COAD 4 122075716 122075716 + Missense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr4:122075716C>T c.713G>A c.(712-714)cGc>cAc p.R238H COAD 4 122075754 122075754 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:122075754C>T c.675G>A c.(673-675)gcG>gcA p.A225A COAD 4 122078300 122078317 + In_Frame_Del DEL TCTCTGCCTGTCGTCCTT TCTCTGCCTGTCGTCCTT - TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr4:122078300_122078317delTCTCTGCCTGTCGTCCTT c.526_543delAAGGACGACAGGCAGAGA c.(526-543)aaggacgacaggcagagadel p.KDDRQR176del COAD 4 122078301 122078301 + Missense_Mutation SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr4:122078301C>A c.542G>T c.(541-543)aGa>aTa p.R181I COAD 4 122078382 122078382 + Missense_Mutation SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr4:122078382G>A c.461C>T c.(460-462)aCg>aTg p.T154M COAD 4 122082321 122082321 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:122082321C>A c.348G>T c.(346-348)aaG>aaT p.K116N COADREAD 4 122053786 122053786 + Nonstop_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:122053786C>A c.978G>T c.(976-978)taG>taT p.*326Y COADREAD 4 122053796 122053796 + Missense_Mutation SNP A A G TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr4:122053796A>G c.968T>C c.(967-969)gTc>gCc p.V323A COADREAD 4 122053801 122053801 + Missense_Mutation SNP C C G TCGA-D5-7000-01A-11D-1924-10 TCGA-D5-7000-10A-01D-1924-10 g.chr4:122053801C>G c.963G>C c.(961-963)aaG>aaC p.K321N COADREAD 4 122068295 122068295 + Missense_Mutation SNP C C A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr4:122068295C>A c.875G>T c.(874-876)cGa>cTa p.R292L COADREAD 4 122068295 122068295 + Missense_Mutation SNP C C G TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr4:122068295C>G c.875G>C c.(874-876)cGa>cCa p.R292P COADREAD 4 122068296 122068296 + Nonsense_Mutation SNP G G A TCGA-CI-6622-01A-11D-1826-10 TCGA-CI-6622-10A-01D-1826-10 g.chr4:122068296G>A c.874C>T c.(874-876)Cga>Tga p.R292* COADREAD 4 122068296 122068296 + Nonsense_Mutation SNP G G A TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr4:122068296G>A c.874C>T c.(874-876)Cga>Tga p.R292* COADREAD 4 122068296 122068296 + Nonsense_Mutation SNP G G A TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr4:122068296G>A c.874C>T c.(874-876)Cga>Tga p.R292* COADREAD 4 122068308 122068308 + Missense_Mutation SNP A A C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr4:122068308A>C c.862T>G c.(862-864)Ttc>Gtc p.F288V COADREAD 4 122068317 122068317 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:122068317C>T c.853G>A c.(853-855)Gaa>Aaa p.E285K COADREAD 4 122075716 122075716 + Missense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr4:122075716C>T c.713G>A c.(712-714)cGc>cAc p.R238H COADREAD 4 122075754 122075754 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:122075754C>T c.675G>A c.(673-675)gcG>gcA p.A225A COADREAD 4 122078300 122078317 + In_Frame_Del DEL TCTCTGCCTGTCGTCCTT TCTCTGCCTGTCGTCCTT - TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr4:122078300_122078317delTCTCTGCCTGTCGTCCTT c.526_543delAAGGACGACAGGCAGAGA c.(526-543)aaggacgacaggcagagadel p.KDDRQR176del COADREAD 4 122078301 122078301 + Missense_Mutation SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr4:122078301C>A c.542G>T c.(541-543)aGa>aTa p.R181I COADREAD 4 122078382 122078382 + Missense_Mutation SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr4:122078382G>A c.461C>T c.(460-462)aCg>aTg p.T154M COADREAD 4 122079859 122079859 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:122079859C>A c.427G>T c.(427-429)Gag>Tag p.E143* COADREAD 4 122082321 122082321 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:122082321C>A c.348G>T c.(346-348)aaG>aaT p.K116N ESCA 4 122068273 122068273 + Missense_Mutation SNP A A T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr4:122068273A>T c.897T>A c.(895-897)aaT>aaA p.N299K ESCA 4 122075707 122075707 + Splice_Site SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 g.chr4:122075707T>C c.722A>G c.(721-723)aAg>aGg p.K241R ESCA 4 122085277 122085277 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr4:122085277C>T c.235G>A c.(235-237)Gca>Aca p.A79T GBM 4 122075742 122075742 + Missense_Mutation SNP C C G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 g.chr4:122075742C>G c.687G>C c.(685-687)aaG>aaC p.K229N GBM 4 122085228 122085228 + Missense_Mutation SNP G G A TCGA-28-5211-01C-11D-1845-08 TCGA-28-5211-10B-01D-1845-08 g.chr4:122085228G>A c.284C>T c.(283-285)aCg>aTg p.T95M GBMLGG 4 122068271 122068271 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:122068271T>C c.899A>G c.(898-900)cAa>cGa p.Q300R GBMLGG 4 122075742 122075742 + Missense_Mutation SNP C C G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 g.chr4:122075742C>G c.687G>C c.(685-687)aaG>aaC p.K229N GBMLGG 4 122085228 122085228 + Missense_Mutation SNP G G A TCGA-28-5211-01C-11D-1845-08 TCGA-28-5211-10B-01D-1845-08 g.chr4:122085228G>A c.284C>T c.(283-285)aCg>aTg p.T95M GBMLGG 4 122085268 122085268 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 g.chr4:122085268C>T c.244G>A c.(244-246)Gta>Ata p.V82I HNSC 4 122063056 122063056 + Missense_Mutation SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 g.chr4:122063056G>T c.1031C>A c.(1030-1032)cCc>cAc p.P344H HNSC 4 122063059 122063059 + Missense_Mutation SNP G G A TCGA-CV-A6JZ-01A-11D-A31L-08 TCGA-CV-A6JZ-10A-01D-A31J-08 g.chr4:122063059G>A c.1028C>T c.(1027-1029)cCa>cTa p.P343L HNSC 4 122068279 122068280 + Frame_Shift_Del DEL TC TC - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr4:122068279_122068280delTC c.890_891delGA c.(889-891)agafs p.R297fs HNSC 4 122068285 122068285 + Silent SNP T T C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 g.chr4:122068285T>C c.885A>G c.(883-885)cgA>cgG p.R295R HNSC 4 122075747 122075747 + Nonsense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr4:122075747C>A c.682G>T c.(682-684)Gaa>Taa p.E228* HNSC 4 122075748 122075748 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr4:122075748C>A c.681G>T c.(679-681)aaG>aaT p.K227N HNSC 4 122075751 122075751 + Missense_Mutation SNP G G C TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr4:122075751G>C c.678C>G c.(676-678)aaC>aaG p.N226K HNSC 4 122078303 122078303 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr4:122078303C>T c.540G>A c.(538-540)caG>caA p.Q180Q HNSC 4 122079850 122079850 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr4:122079850C>T c.436G>A c.(436-438)Gaa>Aaa p.E146K HNSC 4 122085252 122085252 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 g.chr4:122085252C>G c.260G>C c.(259-261)aGa>aCa p.R87T LGG 4 122068271 122068271 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:122068271T>C c.899A>G c.(898-900)cAa>cGa p.Q300R LGG 4 122085268 122085268 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 g.chr4:122085268C>T c.244G>A c.(244-246)Gta>Ata p.V82I LIHC 4 122078298 122078298 + Missense_Mutation SNP T T A TCGA-DD-AADM-01A-11D-A40R-10 TCGA-DD-AADM-10A-01D-A40U-10 g.chr4:122078298T>A c.545A>T c.(544-546)gAg>gTg p.E182V LIHC 4 122078361 122078361 + Missense_Mutation SNP C C A TCGA-DD-A113-01A-11D-A12Z-10 TCGA-DD-A113-10A-01D-A12Z-10 g.chr4:122078361C>A c.482G>T c.(481-483)aGa>aTa p.R161I LIHC 4 122085259 122085259 + Missense_Mutation SNP T T C TCGA-BC-A10U-01A-11D-A12Z-10 TCGA-BC-A10U-11A-11D-A12Z-10 g.chr4:122085259T>C c.253A>G c.(253-255)Aca>Gca p.T85A LUAD 4 122062978 122062978 + Missense_Mutation SNP T T G TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr4:122062978T>G c.1109A>C c.(1108-1110)gAg>gCg p.E370A LUAD 4 122063033 122063033 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr4:122063033G>T c.1054C>A c.(1054-1056)Cac>Aac p.H352N LUAD 4 122071337 122071337 + Missense_Mutation SNP G G C TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr4:122071337G>C c.761C>G c.(760-762)tCc>tGc p.S254C LUSC 4 122068292 122068292 + Missense_Mutation SNP G G A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 g.chr4:122068292G>A c.878C>T c.(877-879)tCg>tTg p.S293L LUSC 4 122079902 122079902 + Silent SNP C C A TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr4:122079902C>A c.384G>T c.(382-384)ctG>ctT p.L128L LUSC 4 122082298 122082298 + Missense_Mutation SNP C C T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr4:122082298C>T c.371G>A c.(370-372)aGa>aAa p.R124K OV 4 122068296 122068296 + Nonsense_Mutation SNP G G A TCGA-13-0904-01A-02W-0420-08 TCGA-13-0904-10A-01D-0399-08 g.chr4:122068296G>A c.874C>T c.(874-876)Cga>Tga p.R292* PAAD 4 122075755 122075755 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:122075755G>A c.674C>T c.(673-675)gCg>gTg p.A225V PAAD 4 122078275 122078275 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:122078275T>G c.568A>C c.(568-570)Acc>Ccc p.T190P PAAD 4 122085277 122085277 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:122085277C>A c.235G>T c.(235-237)Gca>Tca p.A79S PRAD 4 122063932 122063932 + Splice_Site SNP C C A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 g.chr4:122063932C>A c.e11-1 PRAD 4 122075727 122075727 + Silent SNP A A G TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 g.chr4:122075727A>G c.702T>C c.(700-702)tgT>tgC p.C234C READ 4 122068296 122068296 + Nonsense_Mutation SNP G G A TCGA-CI-6622-01A-11D-1826-10 TCGA-CI-6622-10A-01D-1826-10 g.chr4:122068296G>A c.874C>T c.(874-876)Cga>Tga p.R292* READ 4 122068308 122068308 + Missense_Mutation SNP A A C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr4:122068308A>C c.862T>G c.(862-864)Ttc>Gtc p.F288V READ 4 122079859 122079859 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:122079859C>A c.427G>T c.(427-429)Gag>Tag p.E143* SKCM 4 122059826 122059826 + Missense_Mutation SNP C C A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr4:122059826C>A c.899G>T c.(898-900)tGg>tTg p.W300L SKCM 4 122059830 122059830 + Nonsense_Mutation SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr4:122059830G>A c.895C>T c.(895-897)Cag>Tag p.Q299* SKCM 4 122062995 122062995 + Silent SNP A A T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 g.chr4:122062995A>T c.1092T>A c.(1090-1092)gcT>gcA p.A364A SKCM 4 122063913 122063913 + Missense_Mutation SNP C C T TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr4:122063913C>T c.985G>A c.(985-987)Gag>Aag p.E329K SKCM 4 122068286 122068286 + Missense_Mutation SNP C C T TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr4:122068286C>T c.884G>A c.(883-885)cGa>cAa p.R295Q SKCM 4 122068287 122068287 + Nonsense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr4:122068287G>A c.883C>T c.(883-885)Cga>Tga p.R295* SKCM 4 122068317 122068317 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr4:122068317C>T c.853G>A c.(853-855)Gaa>Aaa p.E285K SKCM 4 122068317 122068317 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr4:122068317C>T c.853G>A c.(853-855)Gaa>Aaa p.E285K SKCM 4 122075732 122075732 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:122075732C>T c.697G>A c.(697-699)Gaa>Aaa p.E233K SKCM 4 122075770 122075770 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr4:122075770C>T c.659G>A c.(658-660)gGa>gAa p.G220E SKCM 4 122078270 122078270 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr4:122078270C>T c.573G>A c.(571-573)cgG>cgA p.R191R SKCM 4 122082298 122082298 + Missense_Mutation SNP C C T TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr4:122082298C>T c.371G>A c.(370-372)aGa>aAa p.R124K SKCM 4 122085217 122085217 + Missense_Mutation SNP C C T TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr4:122085217C>T c.295G>A c.(295-297)Gag>Aag p.E99K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 4 122078317 122078317 single base substitution T C exon_variant BLCA-CN 4 122078317 122078317 single base substitution T C missense_variant K169E 505A>G BLCA-CN 4 122078317 122078317 single base substitution T C missense_variant K176E 526A>G BLCA-CN 4 122078317 122078317 single base substitution T C missense_variant K99E 295A>G BLCA-CN 4 122085282 122085282 single base substitution G A 5_prime_UTR_variant BLCA-CN 4 122085282 122085282 single base substitution G A exon_variant BLCA-CN 4 122085282 122085282 single base substitution G A missense_variant S70F 209C>T BLCA-CN 4 122085282 122085282 single base substitution G A missense_variant S77F 230C>T BOCA-FR 4 122059158 122059158 single base substitution A G intron_variant BOCA-FR 4 122059158 122059158 single base substitution A G missense_variant L53P 158T>C BOCA-FR 4 122071557 122071557 single base substitution C T downstream_gene_variant BOCA-FR 4 122071557 122071557 single base substitution C T intron_variant BOCA-FR 4 122071557 122071557 single base substitution C T upstream_gene_variant BRCA-EU 4 122047698 122047698 single base substitution A C downstream_gene_variant BRCA-EU 4 122048119 122048119 single base substitution C T downstream_gene_variant BRCA-EU 4 122049296 122049296 single base substitution G A downstream_gene_variant BRCA-EU 4 122049462 122049462 single base substitution A G downstream_gene_variant BRCA-EU 4 122051418 122051418 single base substitution A G downstream_gene_variant BRCA-EU 4 122052306 122052306 single base substitution C T downstream_gene_variant BRCA-EU 4 122052912 122052912 single base substitution C T 3_prime_UTR_variant BRCA-EU 4 122052912 122052912 single base substitution C T downstream_gene_variant BRCA-EU 4 122053789 122053789 single base substitution C T 3_prime_UTR_variant BRCA-EU 4 122053789 122053789 single base substitution C T downstream_gene_variant BRCA-EU 4 122053789 122053789 single base substitution C T exon_variant BRCA-EU 4 122053789 122053789 single base substitution C T synonymous_variant P325P 975G>A BRCA-EU 4 122055584 122055584 single base substitution T A downstream_gene_variant BRCA-EU 4 122055584 122055584 single base substitution T A intron_variant BRCA-EU 4 122055586 122055586 single base substitution A C downstream_gene_variant BRCA-EU 4 122055586 122055586 single base substitution A C intron_variant BRCA-EU 4 122055587 122055587 single base substitution C A downstream_gene_variant BRCA-EU 4 122055587 122055587 single base substitution C A intron_variant BRCA-EU 4 122055659 122055659 single base substitution G T downstream_gene_variant BRCA-EU 4 122055659 122055659 single base substitution G T intron_variant BRCA-EU 4 122056546 122056546 insertion of <=200bp - T downstream_gene_variant BRCA-EU 4 122056546 122056546 insertion of <=200bp - T intron_variant BRCA-EU 4 122056802 122056802 single base substitution C T downstream_gene_variant BRCA-EU 4 122056802 122056802 single base substitution C T intron_variant BRCA-EU 4 122057328 122057328 single base substitution A C downstream_gene_variant BRCA-EU 4 122057328 122057328 single base substitution A C intron_variant BRCA-EU 4 122059202 122059202 single base substitution A C intron_variant BRCA-EU 4 122060734 122060736 deletion of <=200bp TTT - intron_variant BRCA-EU 4 122061597 122061597 single base substitution G T intron_variant BRCA-EU 4 122062406 122062406 single base substitution C A intron_variant BRCA-EU 4 122062427 122062427 single base substitution A G intron_variant BRCA-EU 4 122063237 122063237 single base substitution G A intron_variant BRCA-EU 4 122063237 122063237 single base substitution G A upstream_gene_variant BRCA-EU 4 122064311 122064311 insertion of <=200bp - T intron_variant BRCA-EU 4 122064311 122064311 insertion of <=200bp - T upstream_gene_variant BRCA-EU 4 122064540 122064540 single base substitution C T intron_variant BRCA-EU 4 122064540 122064540 single base substitution C T upstream_gene_variant BRCA-EU 4 122066186 122066186 single base substitution T A intron_variant BRCA-EU 4 122066186 122066186 single base substitution T A upstream_gene_variant BRCA-EU 4 122066232 122066232 single base substitution C T intron_variant BRCA-EU 4 122066232 122066232 single base substitution C T upstream_gene_variant BRCA-EU 4 122067368 122067368 deletion of <=200bp A - intron_variant BRCA-EU 4 122067368 122067368 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 122068461 122068461 single base substitution T A intron_variant BRCA-EU 4 122068732 122068732 single base substitution G A intron_variant BRCA-EU 4 122069581 122069581 single base substitution C G intron_variant BRCA-EU 4 122069717 122069717 single base substitution G C intron_variant BRCA-EU 4 122070387 122070387 single base substitution C T intron_variant BRCA-EU 4 122071430 122071430 deletion of <=200bp C - downstream_gene_variant BRCA-EU 4 122071430 122071430 deletion of <=200bp C - intron_variant BRCA-EU 4 122071430 122071430 deletion of <=200bp C - upstream_gene_variant BRCA-EU 4 122072000 122072000 single base substitution A G downstream_gene_variant BRCA-EU 4 122072000 122072000 single base substitution A G intron_variant BRCA-EU 4 122072000 122072000 single base substitution A G upstream_gene_variant BRCA-EU 4 122072608 122072608 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 122072608 122072608 deletion of <=200bp T - intron_variant BRCA-EU 4 122072608 122072608 deletion of <=200bp T - upstream_gene_variant BRCA-EU 4 122073100 122073100 single base substitution G A downstream_gene_variant BRCA-EU 4 122073100 122073100 single base substitution G A intron_variant BRCA-EU 4 122073100 122073100 single base substitution G A upstream_gene_variant BRCA-EU 4 122073945 122073945 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 122073945 122073945 deletion of <=200bp T - intron_variant BRCA-EU 4 122073945 122073945 deletion of <=200bp T - upstream_gene_variant BRCA-EU 4 122076135 122076135 single base substitution A T intron_variant BRCA-EU 4 122076135 122076135 single base substitution A T upstream_gene_variant BRCA-EU 4 122077918 122077918 deletion of <=200bp A - intron_variant BRCA-EU 4 122077919 122077919 single base substitution A T intron_variant BRCA-EU 4 122078475 122078475 single base substitution G A intron_variant BRCA-EU 4 122078475 122078475 single base substitution G A upstream_gene_variant BRCA-EU 4 122078993 122078993 single base substitution G A intron_variant BRCA-EU 4 122078993 122078993 single base substitution G A upstream_gene_variant BRCA-EU 4 122079378 122079378 single base substitution C G intron_variant BRCA-EU 4 122079378 122079378 single base substitution C G upstream_gene_variant BRCA-EU 4 122079859 122079859 single base substitution C T exon_variant BRCA-EU 4 122079859 122079859 single base substitution C T missense_variant E136K 406G>A BRCA-EU 4 122079859 122079859 single base substitution C T missense_variant E143K 427G>A BRCA-EU 4 122079859 122079859 single base substitution C T missense_variant E66K 196G>A BRCA-EU 4 122079859 122079859 single base substitution C T upstream_gene_variant BRCA-EU 4 122080241 122080241 single base substitution T C intron_variant BRCA-EU 4 122080241 122080241 single base substitution T C upstream_gene_variant BRCA-EU 4 122080653 122080653 single base substitution T C intron_variant BRCA-EU 4 122080653 122080653 single base substitution T C upstream_gene_variant BRCA-EU 4 122080695 122080695 single base substitution T G intron_variant BRCA-EU 4 122080695 122080695 single base substitution T G upstream_gene_variant BRCA-EU 4 122080843 122080843 single base substitution G A intron_variant BRCA-EU 4 122080843 122080843 single base substitution G A upstream_gene_variant BRCA-EU 4 122080851 122080851 single base substitution A G intron_variant BRCA-EU 4 122080851 122080851 single base substitution A G upstream_gene_variant BRCA-EU 4 122081441 122081441 single base substitution C G intron_variant BRCA-EU 4 122081441 122081441 single base substitution C G upstream_gene_variant BRCA-EU 4 122081465 122081465 single base substitution C T intron_variant BRCA-EU 4 122081465 122081465 single base substitution C T upstream_gene_variant BRCA-EU 4 122081910 122081910 single base substitution G A intron_variant BRCA-EU 4 122081910 122081910 single base substitution G A upstream_gene_variant BRCA-EU 4 122082143 122082143 single base substitution C T intron_variant BRCA-EU 4 122082143 122082143 single base substitution C T upstream_gene_variant BRCA-EU 4 122082475 122082475 single base substitution C T intron_variant BRCA-EU 4 122082475 122082475 single base substitution C T upstream_gene_variant BRCA-EU 4 122084381 122084381 single base substitution C A intron_variant BRCA-EU 4 122085210 122085210 single base substitution C T intron_variant BRCA-EU 4 122085210 122085210 single base substitution C T splice_region_variant BRCA-EU 4 122088707 122088707 single base substitution C T intron_variant BRCA-EU 4 122088707 122088707 single base substitution C T upstream_gene_variant BRCA-EU 4 122089236 122089236 single base substitution C G intron_variant BRCA-EU 4 122089236 122089236 single base substitution C G upstream_gene_variant BRCA-EU 4 122091988 122091988 single base substitution A T intron_variant BRCA-EU 4 122093226 122093226 single base substitution C A intron_variant BRCA-EU 4 122093429 122093429 single base substitution G T intron_variant BRCA-EU 4 122094427 122094427 single base substitution G A intron_variant BRCA-EU 4 122094665 122094665 insertion of <=200bp - T intron_variant BRCA-EU 4 122095101 122095101 single base substitution G A intron_variant BRCA-EU 4 122095411 122095411 single base substitution G C intron_variant BRCA-EU 4 122096218 122096218 single base substitution T C intron_variant BRCA-EU 4 122097659 122097659 single base substitution C T intron_variant BRCA-EU 4 122097860 122097860 single base substitution C A intron_variant BRCA-EU 4 122097920 122097920 single base substitution G T intron_variant BRCA-EU 4 122098134 122098134 single base substitution G C intron_variant BRCA-EU 4 122100956 122100956 single base substitution A C intron_variant BRCA-EU 4 122101228 122101228 single base substitution G A intron_variant BRCA-EU 4 122102254 122102254 single base substitution T C intron_variant BRCA-EU 4 122103677 122103677 single base substitution G A intron_variant BRCA-EU 4 122105042 122105042 single base substitution G A intron_variant BRCA-EU 4 122105315 122105315 deletion of <=200bp T - intron_variant BRCA-EU 4 122106164 122106164 single base substitution G C intron_variant BRCA-EU 4 122106446 122106446 single base substitution G A intron_variant BRCA-EU 4 122106446 122106446 single base substitution G C intron_variant BRCA-EU 4 122107244 122107244 single base substitution T C intron_variant BRCA-EU 4 122108335 122108335 single base substitution G A intron_variant BRCA-EU 4 122108453 122108453 single base substitution C T intron_variant BRCA-EU 4 122108880 122108880 deletion of <=200bp C - intron_variant BRCA-EU 4 122109134 122109134 single base substitution G C intron_variant BRCA-EU 4 122109567 122109567 single base substitution G C intron_variant BRCA-EU 4 122110357 122110357 single base substitution C T intron_variant BRCA-EU 4 122111278 122111278 single base substitution G A intron_variant BRCA-EU 4 122111480 122111480 single base substitution T C intron_variant BRCA-EU 4 122113267 122113267 single base substitution G C intron_variant BRCA-EU 4 122114053 122114053 single base substitution G C intron_variant BRCA-EU 4 122115137 122115137 single base substitution A G intron_variant BRCA-EU 4 122115980 122115980 single base substitution G T intron_variant BRCA-EU 4 122116706 122116706 single base substitution T A intron_variant BRCA-EU 4 122116836 122116836 single base substitution C G intron_variant BRCA-EU 4 122117713 122117713 deletion of <=200bp T - intron_variant BRCA-EU 4 122117965 122117965 single base substitution T C intron_variant BRCA-EU 4 122118519 122118519 single base substitution C T intron_variant BRCA-EU 4 122118875 122118875 single base substitution C T intron_variant BRCA-EU 4 122119796 122119796 single base substitution T G intron_variant BRCA-EU 4 122120613 122120613 single base substitution G A intron_variant BRCA-EU 4 122120654 122120654 single base substitution C A intron_variant BRCA-EU 4 122121522 122121522 single base substitution T C intron_variant BRCA-EU 4 122121528 122121528 single base substitution G A intron_variant BRCA-EU 4 122121851 122121851 single base substitution C G intron_variant BRCA-EU 4 122121925 122121925 single base substitution T G intron_variant BRCA-EU 4 122124510 122124510 single base substitution A T intron_variant BRCA-EU 4 122125865 122125865 single base substitution G T intron_variant BRCA-EU 4 122126319 122126319 single base substitution C A intron_variant BRCA-EU 4 122127076 122127076 single base substitution C T intron_variant BRCA-EU 4 122127290 122127290 single base substitution G C intron_variant BRCA-EU 4 122128212 122128212 insertion of <=200bp - A intron_variant BRCA-EU 4 122128380 122128380 deletion of <=200bp A - intron_variant BRCA-EU 4 122128528 122128528 single base substitution T C intron_variant BRCA-EU 4 122128842 122128842 single base substitution T C intron_variant BRCA-EU 4 122129343 122129343 single base substitution C T intron_variant BRCA-EU 4 122129628 122129628 single base substitution C G intron_variant BRCA-EU 4 122129751 122129751 single base substitution C G intron_variant BRCA-EU 4 122130025 122130025 single base substitution C A intron_variant BRCA-EU 4 122131124 122131124 single base substitution T C intron_variant BRCA-EU 4 122131273 122131273 single base substitution T G intron_variant BRCA-EU 4 122132474 122132474 single base substitution G A intron_variant BRCA-EU 4 122134136 122134136 deletion of <=200bp A - intron_variant BRCA-EU 4 122134568 122134568 single base substitution T C intron_variant BRCA-EU 4 122135223 122135223 single base substitution C G intron_variant BRCA-EU 4 122135284 122135284 single base substitution C T intron_variant BRCA-EU 4 122135409 122135409 single base substitution G T intron_variant BRCA-EU 4 122136165 122136165 single base substitution G T intron_variant BRCA-EU 4 122136565 122136588 deletion of <=200bp GTAGAATAAATTCTCAGCTATTTA - intron_variant BRCA-EU 4 122138088 122138088 single base substitution G A intron_variant BRCA-EU 4 122138088 122138088 single base substitution G A upstream_gene_variant BRCA-EU 4 122139926 122139926 single base substitution C T intron_variant BRCA-EU 4 122139926 122139926 single base substitution C T upstream_gene_variant BRCA-EU 4 122140245 122140245 single base substitution C T intron_variant BRCA-EU 4 122140245 122140245 single base substitution C T upstream_gene_variant BRCA-EU 4 122142120 122142120 single base substitution T C intron_variant BRCA-EU 4 122142120 122142120 single base substitution T C upstream_gene_variant BRCA-EU 4 122142329 122142329 single base substitution A T intron_variant BRCA-EU 4 122142329 122142329 single base substitution A T upstream_gene_variant BRCA-EU 4 122142915 122142915 deletion of <=200bp T - intron_variant BRCA-EU 4 122142915 122142915 insertion of <=200bp - T intron_variant BRCA-EU 4 122144195 122144195 single base substitution C T intron_variant BRCA-EU 4 122144983 122144983 single base substitution T C intron_variant BRCA-EU 4 122145716 122145716 single base substitution A G intron_variant BRCA-EU 4 122146618 122146618 single base substitution G A intron_variant BRCA-EU 4 122147494 122147494 single base substitution A G intron_variant BRCA-EU 4 122147673 122147673 single base substitution G A intron_variant BRCA-EU 4 122148497 122148497 single base substitution T C intron_variant BRCA-EU 4 122149695 122149695 single base substitution A G upstream_gene_variant BRCA-EU 4 122150006 122150006 single base substitution A G upstream_gene_variant BRCA-EU 4 122150290 122150290 single base substitution T A upstream_gene_variant BRCA-EU 4 122151582 122151582 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 122152866 122152866 single base substitution A G upstream_gene_variant BRCA-EU 4 122152971 122152971 single base substitution G C upstream_gene_variant BRCA-FR 4 122048119 122048119 single base substitution C T downstream_gene_variant BRCA-FR 4 122052912 122052912 single base substitution C T 3_prime_UTR_variant BRCA-FR 4 122052912 122052912 single base substitution C T downstream_gene_variant BRCA-FR 4 122056802 122056802 single base substitution C T downstream_gene_variant BRCA-FR 4 122056802 122056802 single base substitution C T intron_variant BRCA-FR 4 122064540 122064540 single base substitution C T intron_variant BRCA-FR 4 122064540 122064540 single base substitution C T upstream_gene_variant BRCA-FR 4 122065467 122065467 single base substitution G T intron_variant BRCA-FR 4 122065467 122065467 single base substitution G T upstream_gene_variant BRCA-FR 4 122066232 122066232 single base substitution C T intron_variant BRCA-FR 4 122066232 122066232 single base substitution C T upstream_gene_variant BRCA-FR 4 122078392 122078392 single base substitution C G exon_variant BRCA-FR 4 122078392 122078392 single base substitution C G missense_variant E144Q 430G>C BRCA-FR 4 122078392 122078392 single base substitution C G missense_variant E151Q 451G>C BRCA-FR 4 122078392 122078392 single base substitution C G missense_variant E74Q 220G>C BRCA-FR 4 122078993 122078993 single base substitution G A intron_variant BRCA-FR 4 122078993 122078993 single base substitution G A upstream_gene_variant BRCA-FR 4 122081907 122081907 single base substitution C G intron_variant BRCA-FR 4 122081907 122081907 single base substitution C G upstream_gene_variant BRCA-FR 4 122089819 122089819 single base substitution A C intron_variant BRCA-FR 4 122089819 122089819 single base substitution A C upstream_gene_variant BRCA-FR 4 122108430 122108430 single base substitution C T intron_variant BRCA-FR 4 122109567 122109567 single base substitution G C intron_variant BRCA-FR 4 122110357 122110357 single base substitution C T intron_variant BRCA-FR 4 122110652 122110652 single base substitution T C intron_variant BRCA-FR 4 122115215 122115215 single base substitution G A intron_variant BRCA-FR 4 122116836 122116836 single base substitution C G intron_variant BRCA-FR 4 122121530 122121530 single base substitution C G intron_variant BRCA-FR 4 122125661 122125661 single base substitution G A intron_variant BRCA-FR 4 122128454 122128454 single base substitution G T intron_variant BRCA-FR 4 122129628 122129628 single base substitution C G intron_variant BRCA-FR 4 122135223 122135223 single base substitution C G intron_variant BRCA-FR 4 122140560 122140560 single base substitution T G intron_variant BRCA-FR 4 122140560 122140560 single base substitution T G upstream_gene_variant BRCA-FR 4 122144621 122144621 single base substitution T C intron_variant BRCA-FR 4 122144713 122144713 single base substitution G C intron_variant BRCA-KR 4 122082392 122082392 single base substitution G A intron_variant BRCA-KR 4 122082392 122082392 single base substitution G A upstream_gene_variant BRCA-UK 4 122071430 122071430 deletion of <=200bp C - downstream_gene_variant BRCA-UK 4 122071430 122071430 deletion of <=200bp C - intron_variant BRCA-UK 4 122071430 122071430 deletion of <=200bp C - upstream_gene_variant BRCA-UK 4 122089175 122089175 single base substitution G T intron_variant BRCA-UK 4 122089175 122089175 single base substitution G T upstream_gene_variant BRCA-UK 4 122114053 122114053 single base substitution G C intron_variant BRCA-UK 4 122137787 122137787 single base substitution C G intron_variant BRCA-UK 4 122137787 122137787 single base substitution C G upstream_gene_variant BRCA-US 4 122059806 122059806 single base substitution G A exon_variant BRCA-US 4 122059806 122059806 single base substitution G A intron_variant BRCA-US 4 122059806 122059806 single base substitution G A missense_variant P307S 919C>T BRCA-US 4 122059806 122059806 single base substitution G A missense_variant P40S 118C>T BRCA-US 4 122063919 122063919 single base substitution G A exon_variant BRCA-US 4 122063919 122063919 single base substitution G A stop_gained Q250* 748C>T BRCA-US 4 122063919 122063919 single base substitution G A stop_gained Q320* 958C>T BRCA-US 4 122063919 122063919 single base substitution G A stop_gained Q327* 979C>T BRCA-US 4 122063919 122063919 single base substitution G A upstream_gene_variant BRCA-US 4 122071373 122071373 single base substitution G C downstream_gene_variant BRCA-US 4 122071373 122071373 single base substitution G C missense_variant A165G 494C>G BRCA-US 4 122071373 122071373 single base substitution G C missense_variant A235G 704C>G BRCA-US 4 122071373 122071373 single base substitution G C missense_variant A242G 725C>G BRCA-US 4 122071373 122071373 single base substitution G C splice_region_variant BRCA-US 4 122071373 122071373 single base substitution G C upstream_gene_variant BRCA-US 4 122078381 122078381 single base substitution C T exon_variant BRCA-US 4 122078381 122078381 single base substitution C T synonymous_variant T147T 441G>A BRCA-US 4 122078381 122078381 single base substitution C T synonymous_variant T154T 462G>A BRCA-US 4 122078381 122078381 single base substitution C T synonymous_variant T77T 231G>A BRCA-US 4 122085252 122085252 single base substitution C A exon_variant BRCA-US 4 122085252 122085252 single base substitution C A missense_variant R10I 29G>T BRCA-US 4 122085252 122085252 single base substitution C A missense_variant R80I 239G>T BRCA-US 4 122085252 122085252 single base substitution C A missense_variant R87I 260G>T BRCA-US 4 122103898 122103898 single base substitution G C 5_prime_UTR_variant BRCA-US 4 122103898 122103898 single base substitution G C missense_variant A41G 122C>G BRCA-US 4 122103898 122103898 single base substitution G C missense_variant A48G 143C>G BTCA-JP 4 122082513 122082513 single base substitution C A intron_variant BTCA-JP 4 122082513 122082513 single base substitution C A upstream_gene_variant BTCA-JP 4 122085206 122085206 single base substitution T A intron_variant CESC-US 4 122071296 122071296 single base substitution C T downstream_gene_variant CESC-US 4 122071296 122071296 single base substitution C T exon_variant CESC-US 4 122071296 122071296 single base substitution C T missense_variant E191K 571G>A CESC-US 4 122071296 122071296 single base substitution C T missense_variant E261K 781G>A CESC-US 4 122071296 122071296 single base substitution C T missense_variant E268K 802G>A CESC-US 4 122071296 122071296 single base substitution C T upstream_gene_variant CESC-US 4 122082291 122082291 single base substitution C A missense_variant E119D 357G>T CESC-US 4 122082291 122082291 single base substitution C A missense_variant E126D 378G>T CESC-US 4 122082291 122082291 single base substitution C A missense_variant E49D 147G>T CESC-US 4 122082291 122082291 single base substitution C A splice_region_variant CESC-US 4 122082291 122082291 single base substitution C A upstream_gene_variant CESC-US 4 122082365 122082365 single base substitution C T exon_variant CESC-US 4 122082365 122082365 single base substitution C T missense_variant E102K 304G>A CESC-US 4 122082365 122082365 single base substitution C T missense_variant E25K 73G>A CESC-US 4 122082365 122082365 single base substitution C T missense_variant E95K 283G>A CESC-US 4 122082365 122082365 single base substitution C T upstream_gene_variant CESC-US 4 122137568 122137568 single base substitution A C splice_donor_variant CLLE-ES 4 122049825 122049825 single base substitution G A downstream_gene_variant CLLE-ES 4 122051014 122051014 single base substitution C T downstream_gene_variant CLLE-ES 4 122061066 122061066 single base substitution G T intron_variant CLLE-ES 4 122063939 122063939 single base substitution C A splice_region_variant CLLE-ES 4 122063939 122063939 single base substitution C A upstream_gene_variant CLLE-ES 4 122068318 122068318 single base substitution G A exon_variant CLLE-ES 4 122068318 122068318 single base substitution G A synonymous_variant Y207Y 621C>T CLLE-ES 4 122068318 122068318 single base substitution G A synonymous_variant Y277Y 831C>T CLLE-ES 4 122068318 122068318 single base substitution G A synonymous_variant Y284Y 852C>T CLLE-ES 4 122068652 122068652 single base substitution A G intron_variant CLLE-ES 4 122078285 122078285 insertion of <=200bp - CTGCCTGTCGTCCTCTCT exon_variant CLLE-ES 4 122078285 122078285 insertion of <=200bp - CTGCCTGTCGTCCTCTCT inframe_insertion Q109QREDDRQ CLLE-ES 4 122078285 122078285 insertion of <=200bp - CTGCCTGTCGTCCTCTCT inframe_insertion Q179QREDDRQ CLLE-ES 4 122078285 122078285 insertion of <=200bp - CTGCCTGTCGTCCTCTCT inframe_insertion Q186QREDDRQ CLLE-ES 4 122085565 122085565 single base substitution C A intron_variant CLLE-ES 4 122085565 122085565 single base substitution C A upstream_gene_variant CLLE-ES 4 122087706 122087706 single base substitution C A intron_variant CLLE-ES 4 122087706 122087706 single base substitution C A upstream_gene_variant CLLE-ES 4 122089911 122089911 single base substitution A G intron_variant CLLE-ES 4 122089911 122089911 single base substitution A G upstream_gene_variant CLLE-ES 4 122095474 122095474 single base substitution C T intron_variant CLLE-ES 4 122098915 122098915 single base substitution T A intron_variant CLLE-ES 4 122124788 122124788 single base substitution C A intron_variant CLLE-ES 4 122127775 122127775 single base substitution C A intron_variant CLLE-ES 4 122130762 122130762 single base substitution C T intron_variant CLLE-ES 4 122134583 122134583 single base substitution A T intron_variant CLLE-ES 4 122139271 122139271 single base substitution A G intron_variant CLLE-ES 4 122139271 122139271 single base substitution A G upstream_gene_variant CLLE-ES 4 122149452 122149452 single base substitution G A upstream_gene_variant CLLE-ES 4 122149470 122149470 single base substitution A T upstream_gene_variant CLLE-ES 4 122149934 122149934 single base substitution T A upstream_gene_variant CLLE-ES 4 122151883 122151883 single base substitution C T upstream_gene_variant CLLE-ES 4 122152073 122152073 single base substitution C T upstream_gene_variant COAD-US 4 122053786 122053786 single base substitution C A 3_prime_UTR_variant COAD-US 4 122053786 122053786 single base substitution C A downstream_gene_variant COAD-US 4 122053786 122053786 single base substitution C A exon_variant COAD-US 4 122053786 122053786 single base substitution C A stop_lost *326Y 978G>T COAD-US 4 122053801 122053801 single base substitution C G 3_prime_UTR_variant COAD-US 4 122053801 122053801 single base substitution C G downstream_gene_variant COAD-US 4 122053801 122053801 single base substitution C G exon_variant COAD-US 4 122053801 122053801 single base substitution C G missense_variant K321N 963G>C COAD-US 4 122068317 122068317 single base substitution C T exon_variant COAD-US 4 122068317 122068317 single base substitution C T missense_variant E208K 622G>A COAD-US 4 122068317 122068317 single base substitution C T missense_variant E278K 832G>A COAD-US 4 122068317 122068317 single base substitution C T missense_variant E285K 853G>A COAD-US 4 122075716 122075716 single base substitution C T exon_variant COAD-US 4 122075716 122075716 single base substitution C T missense_variant R161H 482G>A COAD-US 4 122075716 122075716 single base substitution C T missense_variant R231H 692G>A COAD-US 4 122075716 122075716 single base substitution C T missense_variant R238H 713G>A COAD-US 4 122075716 122075716 single base substitution C T upstream_gene_variant COAD-US 4 122078301 122078301 single base substitution C A exon_variant COAD-US 4 122078301 122078301 single base substitution C A missense_variant R104I 311G>T COAD-US 4 122078301 122078301 single base substitution C A missense_variant R174I 521G>T COAD-US 4 122078301 122078301 single base substitution C A missense_variant R181I 542G>T COAD-US 4 122078317 122078317 single base substitution T C exon_variant COAD-US 4 122078317 122078317 single base substitution T C missense_variant K169E 505A>G COAD-US 4 122078317 122078317 single base substitution T C missense_variant K176E 526A>G COAD-US 4 122078317 122078317 single base substitution T C missense_variant K99E 295A>G COAD-US 4 122082321 122082321 single base substitution C A exon_variant COAD-US 4 122082321 122082321 single base substitution C A missense_variant K109N 327G>T COAD-US 4 122082321 122082321 single base substitution C A missense_variant K116N 348G>T COAD-US 4 122082321 122082321 single base substitution C A missense_variant K39N 117G>T COAD-US 4 122082321 122082321 single base substitution C A upstream_gene_variant COCA-CN 4 122059756 122059756 single base substitution G A intron_variant COCA-CN 4 122068120 122068120 single base substitution A T intron_variant COCA-CN 4 122071430 122071430 single base substitution C T downstream_gene_variant COCA-CN 4 122071430 122071430 single base substitution C T intron_variant COCA-CN 4 122071430 122071430 single base substitution C T upstream_gene_variant COCA-CN 4 122078516 122078516 single base substitution G C intron_variant COCA-CN 4 122078516 122078516 single base substitution G C upstream_gene_variant COCA-CN 4 122079967 122079967 single base substitution C T intron_variant COCA-CN 4 122079967 122079967 single base substitution C T upstream_gene_variant COCA-CN 4 122085241 122085241 single base substitution C T exon_variant COCA-CN 4 122085241 122085241 single base substitution C T missense_variant A14T 40G>A COCA-CN 4 122085241 122085241 single base substitution C T missense_variant A84T 250G>A COCA-CN 4 122085241 122085241 single base substitution C T missense_variant A91T 271G>A COCA-CN 4 122137617 122137617 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 4 122137617 122137617 single base substitution G A synonymous_variant H14H 42C>T COCA-CN 4 122137617 122137617 single base substitution G A synonymous_variant H7H 21C>T COCA-CN 4 122137663 122137663 single base substitution A G splice_region_variant COCA-CN 4 122137663 122137663 single base substitution A G upstream_gene_variant EOPC-DE 4 122051764 122051764 single base substitution G A downstream_gene_variant EOPC-DE 4 122066367 122066367 single base substitution G A intron_variant EOPC-DE 4 122066367 122066367 single base substitution G A upstream_gene_variant EOPC-DE 4 122080490 122080490 single base substitution A C intron_variant EOPC-DE 4 122080490 122080490 single base substitution A C upstream_gene_variant EOPC-DE 4 122085335 122085335 single base substitution C A 5_prime_UTR_variant EOPC-DE 4 122085335 122085335 single base substitution C A exon_variant EOPC-DE 4 122085335 122085335 single base substitution C A intron_variant EOPC-DE 4 122098091 122098091 single base substitution G A intron_variant EOPC-DE 4 122140923 122140923 single base substitution G A intron_variant EOPC-DE 4 122140923 122140923 single base substitution G A upstream_gene_variant EOPC-DE 4 122146463 122146463 single base substitution T C intron_variant ESAD-UK 4 122047669 122047669 single base substitution C T downstream_gene_variant ESAD-UK 4 122047976 122047976 single base substitution T G downstream_gene_variant ESAD-UK 4 122048180 122048180 single base substitution C T downstream_gene_variant ESAD-UK 4 122048554 122048554 single base substitution G T downstream_gene_variant ESAD-UK 4 122051519 122051519 single base substitution C T downstream_gene_variant ESAD-UK 4 122051866 122051866 single base substitution G A downstream_gene_variant ESAD-UK 4 122052222 122052222 single base substitution T G downstream_gene_variant ESAD-UK 4 122052309 122052309 single base substitution A C downstream_gene_variant ESAD-UK 4 122052334 122052334 insertion of <=200bp - TA downstream_gene_variant ESAD-UK 4 122052455 122052455 single base substitution C G downstream_gene_variant ESAD-UK 4 122054196 122054196 single base substitution T G downstream_gene_variant ESAD-UK 4 122054196 122054196 single base substitution T G intron_variant ESAD-UK 4 122054338 122054338 single base substitution G C downstream_gene_variant ESAD-UK 4 122054338 122054338 single base substitution G C intron_variant ESAD-UK 4 122054391 122054391 single base substitution G A downstream_gene_variant ESAD-UK 4 122054391 122054391 single base substitution G A intron_variant ESAD-UK 4 122054407 122054407 single base substitution T G downstream_gene_variant ESAD-UK 4 122054407 122054407 single base substitution T G intron_variant ESAD-UK 4 122055739 122055739 single base substitution C T downstream_gene_variant ESAD-UK 4 122055739 122055739 single base substitution C T intron_variant ESAD-UK 4 122056224 122056224 single base substitution G A downstream_gene_variant ESAD-UK 4 122056224 122056224 single base substitution G A intron_variant ESAD-UK 4 122056379 122056379 single base substitution A C downstream_gene_variant ESAD-UK 4 122056379 122056379 single base substitution A C intron_variant ESAD-UK 4 122057039 122057039 single base substitution G T downstream_gene_variant ESAD-UK 4 122057039 122057039 single base substitution G T intron_variant ESAD-UK 4 122058436 122058436 single base substitution T G downstream_gene_variant ESAD-UK 4 122058436 122058436 single base substitution T G intron_variant ESAD-UK 4 122058992 122058992 single base substitution T G 3_prime_UTR_variant ESAD-UK 4 122058992 122058992 single base substitution T G intron_variant ESAD-UK 4 122059065 122059065 single base substitution T C intron_variant ESAD-UK 4 122059065 122059065 single base substitution T C missense_variant K84R 251A>G ESAD-UK 4 122059146 122059146 single base substitution C A intron_variant ESAD-UK 4 122059146 122059146 single base substitution C A missense_variant C57F 170G>T ESAD-UK 4 122059396 122059396 single base substitution C A intron_variant ESAD-UK 4 122059702 122059702 single base substitution T C intron_variant ESAD-UK 4 122060147 122060147 single base substitution T G intron_variant ESAD-UK 4 122060330 122060330 single base substitution A C intron_variant ESAD-UK 4 122060722 122060722 single base substitution A C intron_variant ESAD-UK 4 122060724 122060724 single base substitution T C intron_variant ESAD-UK 4 122060732 122060732 single base substitution A C intron_variant ESAD-UK 4 122060732 122060732 single base substitution A T intron_variant ESAD-UK 4 122061546 122061546 single base substitution A C intron_variant ESAD-UK 4 122063252 122063252 single base substitution A C intron_variant ESAD-UK 4 122063252 122063252 single base substitution A C upstream_gene_variant ESAD-UK 4 122063257 122063257 single base substitution T A intron_variant ESAD-UK 4 122063257 122063257 single base substitution T A upstream_gene_variant ESAD-UK 4 122064740 122064740 single base substitution T G intron_variant ESAD-UK 4 122064740 122064740 single base substitution T G upstream_gene_variant ESAD-UK 4 122065042 122065042 single base substitution G C intron_variant ESAD-UK 4 122065042 122065042 single base substitution G C upstream_gene_variant ESAD-UK 4 122065701 122065701 single base substitution C T intron_variant ESAD-UK 4 122065701 122065701 single base substitution C T upstream_gene_variant ESAD-UK 4 122065768 122065768 single base substitution G C intron_variant ESAD-UK 4 122065768 122065768 single base substitution G C upstream_gene_variant ESAD-UK 4 122065803 122065803 single base substitution C T intron_variant ESAD-UK 4 122065803 122065803 single base substitution C T upstream_gene_variant ESAD-UK 4 122065853 122065853 single base substitution G A intron_variant ESAD-UK 4 122065853 122065853 single base substitution G A upstream_gene_variant ESAD-UK 4 122066036 122066036 single base substitution A G intron_variant ESAD-UK 4 122066036 122066036 single base substitution A G upstream_gene_variant ESAD-UK 4 122066454 122066454 deletion of <=200bp A - intron_variant ESAD-UK 4 122066454 122066454 deletion of <=200bp A - upstream_gene_variant ESAD-UK 4 122067970 122067970 deletion of <=200bp A - intron_variant ESAD-UK 4 122067970 122067970 deletion of <=200bp A - upstream_gene_variant ESAD-UK 4 122068229 122068229 single base substitution G T exon_variant ESAD-UK 4 122068229 122068229 single base substitution G T missense_variant S237Y 710C>A ESAD-UK 4 122068229 122068229 single base substitution G T missense_variant S307Y 920C>A ESAD-UK 4 122068229 122068229 single base substitution G T missense_variant S314Y 941C>A ESAD-UK 4 122068317 122068317 single base substitution C T exon_variant ESAD-UK 4 122068317 122068317 single base substitution C T missense_variant E208K 622G>A ESAD-UK 4 122068317 122068317 single base substitution C T missense_variant E278K 832G>A ESAD-UK 4 122068317 122068317 single base substitution C T missense_variant E285K 853G>A ESAD-UK 4 122068333 122068333 single base substitution A G splice_region_variant ESAD-UK 4 122070042 122070042 single base substitution A T intron_variant ESAD-UK 4 122070223 122070223 single base substitution A G intron_variant ESAD-UK 4 122071866 122071866 single base substitution T C downstream_gene_variant ESAD-UK 4 122071866 122071866 single base substitution T C intron_variant ESAD-UK 4 122071866 122071866 single base substitution T C upstream_gene_variant ESAD-UK 4 122072608 122072608 insertion of <=200bp - T downstream_gene_variant ESAD-UK 4 122072608 122072608 insertion of <=200bp - T intron_variant ESAD-UK 4 122072608 122072608 insertion of <=200bp - T upstream_gene_variant ESAD-UK 4 122072632 122072632 insertion of <=200bp - A downstream_gene_variant ESAD-UK 4 122072632 122072632 insertion of <=200bp - A intron_variant ESAD-UK 4 122072632 122072632 insertion of <=200bp - A upstream_gene_variant ESAD-UK 4 122073775 122073775 single base substitution A C downstream_gene_variant ESAD-UK 4 122073775 122073775 single base substitution A C intron_variant ESAD-UK 4 122073775 122073775 single base substitution A C upstream_gene_variant ESAD-UK 4 122073855 122073855 single base substitution A C downstream_gene_variant ESAD-UK 4 122073855 122073855 single base substitution A C intron_variant ESAD-UK 4 122073855 122073855 single base substitution A C upstream_gene_variant ESAD-UK 4 122074181 122074181 single base substitution A G downstream_gene_variant ESAD-UK 4 122074181 122074181 single base substitution A G intron_variant ESAD-UK 4 122074181 122074181 single base substitution A G upstream_gene_variant ESAD-UK 4 122074289 122074289 single base substitution G T downstream_gene_variant ESAD-UK 4 122074289 122074289 single base substitution G T intron_variant ESAD-UK 4 122074289 122074289 single base substitution G T upstream_gene_variant ESAD-UK 4 122074474 122074474 single base substitution T A downstream_gene_variant ESAD-UK 4 122074474 122074474 single base substitution T A intron_variant ESAD-UK 4 122074474 122074474 single base substitution T A upstream_gene_variant ESAD-UK 4 122074607 122074607 single base substitution T C downstream_gene_variant ESAD-UK 4 122074607 122074607 single base substitution T C intron_variant ESAD-UK 4 122074607 122074607 single base substitution T C upstream_gene_variant ESAD-UK 4 122074771 122074771 single base substitution T G downstream_gene_variant ESAD-UK 4 122074771 122074771 single base substitution T G intron_variant ESAD-UK 4 122074771 122074771 single base substitution T G upstream_gene_variant ESAD-UK 4 122074789 122074789 single base substitution T C downstream_gene_variant ESAD-UK 4 122074789 122074789 single base substitution T C intron_variant ESAD-UK 4 122074789 122074789 single base substitution T C upstream_gene_variant ESAD-UK 4 122074840 122074840 single base substitution T G downstream_gene_variant ESAD-UK 4 122074840 122074840 single base substitution T G intron_variant ESAD-UK 4 122074840 122074840 single base substitution T G upstream_gene_variant ESAD-UK 4 122075324 122075324 single base substitution T A downstream_gene_variant ESAD-UK 4 122075324 122075324 single base substitution T A intron_variant ESAD-UK 4 122075324 122075324 single base substitution T A upstream_gene_variant ESAD-UK 4 122075448 122075448 single base substitution T C exon_variant ESAD-UK 4 122075448 122075448 single base substitution T C intron_variant ESAD-UK 4 122075448 122075448 single base substitution T C upstream_gene_variant ESAD-UK 4 122075796 122075796 single base substitution C A exon_variant ESAD-UK 4 122075796 122075796 single base substitution C A missense_variant L134F 402G>T ESAD-UK 4 122075796 122075796 single base substitution C A missense_variant L204F 612G>T ESAD-UK 4 122075796 122075796 single base substitution C A missense_variant L211F 633G>T ESAD-UK 4 122075796 122075796 single base substitution C A upstream_gene_variant ESAD-UK 4 122076284 122076284 single base substitution A T intron_variant ESAD-UK 4 122076338 122076338 single base substitution T C intron_variant ESAD-UK 4 122076740 122076740 single base substitution G C intron_variant ESAD-UK 4 122077827 122077827 single base substitution C A intron_variant ESAD-UK 4 122078007 122078007 single base substitution A G intron_variant ESAD-UK 4 122078311 122078311 single base substitution C T exon_variant ESAD-UK 4 122078311 122078311 single base substitution C T missense_variant D101N 301G>A ESAD-UK 4 122078311 122078311 single base substitution C T missense_variant D171N 511G>A ESAD-UK 4 122078311 122078311 single base substitution C T missense_variant D178N 532G>A ESAD-UK 4 122078837 122078837 single base substitution T G intron_variant ESAD-UK 4 122078837 122078837 single base substitution T G upstream_gene_variant ESAD-UK 4 122079547 122079547 single base substitution A C intron_variant ESAD-UK 4 122079547 122079547 single base substitution A C upstream_gene_variant ESAD-UK 4 122079587 122079587 single base substitution A T intron_variant ESAD-UK 4 122079587 122079587 single base substitution A T upstream_gene_variant ESAD-UK 4 122079972 122079972 single base substitution A C intron_variant ESAD-UK 4 122079972 122079972 single base substitution A C upstream_gene_variant ESAD-UK 4 122080961 122080961 single base substitution A C intron_variant ESAD-UK 4 122080961 122080961 single base substitution A C upstream_gene_variant ESAD-UK 4 122081638 122081638 single base substitution A T intron_variant ESAD-UK 4 122081638 122081638 single base substitution A T upstream_gene_variant ESAD-UK 4 122082690 122082690 deletion of <=200bp A - intron_variant ESAD-UK 4 122082690 122082690 deletion of <=200bp A - upstream_gene_variant ESAD-UK 4 122083135 122083135 single base substitution C A intron_variant ESAD-UK 4 122083135 122083135 single base substitution C A upstream_gene_variant ESAD-UK 4 122083767 122083767 single base substitution T G intron_variant ESAD-UK 4 122084317 122084317 single base substitution G C intron_variant ESAD-UK 4 122085119 122085119 single base substitution G A intron_variant ESAD-UK 4 122085986 122085986 single base substitution T C intron_variant ESAD-UK 4 122085986 122085986 single base substitution T C upstream_gene_variant ESAD-UK 4 122086005 122086005 single base substitution G T intron_variant ESAD-UK 4 122086005 122086005 single base substitution G T upstream_gene_variant ESAD-UK 4 122086688 122086688 single base substitution T C intron_variant ESAD-UK 4 122086688 122086688 single base substitution T C upstream_gene_variant ESAD-UK 4 122087251 122087251 single base substitution C T intron_variant ESAD-UK 4 122087251 122087251 single base substitution C T upstream_gene_variant ESAD-UK 4 122087726 122087726 single base substitution A C intron_variant ESAD-UK 4 122087726 122087726 single base substitution A C upstream_gene_variant ESAD-UK 4 122088766 122088766 single base substitution A C intron_variant ESAD-UK 4 122088766 122088766 single base substitution A C upstream_gene_variant ESAD-UK 4 122088766 122088766 single base substitution A G intron_variant ESAD-UK 4 122088766 122088766 single base substitution A G upstream_gene_variant ESAD-UK 4 122089488 122089488 single base substitution A C intron_variant ESAD-UK 4 122089488 122089488 single base substitution A C upstream_gene_variant ESAD-UK 4 122089853 122089853 single base substitution T G intron_variant ESAD-UK 4 122089853 122089853 single base substitution T G upstream_gene_variant ESAD-UK 4 122089935 122089935 deletion of <=200bp A - intron_variant ESAD-UK 4 122089935 122089935 deletion of <=200bp A - upstream_gene_variant ESAD-UK 4 122089962 122089962 single base substitution C A intron_variant ESAD-UK 4 122089962 122089962 single base substitution C A upstream_gene_variant ESAD-UK 4 122090862 122090862 single base substitution A T intron_variant ESAD-UK 4 122091050 122091050 single base substitution T G intron_variant ESAD-UK 4 122091207 122091207 single base substitution C A intron_variant ESAD-UK 4 122091279 122091279 single base substitution A T intron_variant ESAD-UK 4 122091798 122091798 single base substitution G A intron_variant ESAD-UK 4 122091875 122091875 single base substitution C T intron_variant ESAD-UK 4 122092221 122092221 single base substitution T C intron_variant ESAD-UK 4 122092546 122092546 single base substitution A C intron_variant ESAD-UK 4 122092998 122092998 single base substitution G C intron_variant ESAD-UK 4 122093394 122093394 single base substitution A C intron_variant ESAD-UK 4 122094543 122094543 single base substitution A G intron_variant ESAD-UK 4 122094673 122094673 single base substitution T A intron_variant ESAD-UK 4 122095675 122095675 single base substitution G C intron_variant ESAD-UK 4 122096503 122096503 single base substitution T C intron_variant ESAD-UK 4 122097926 122097926 single base substitution A C intron_variant ESAD-UK 4 122098003 122098003 single base substitution T G intron_variant ESAD-UK 4 122098343 122098343 single base substitution C A intron_variant ESAD-UK 4 122098943 122098943 single base substitution T C intron_variant ESAD-UK 4 122099539 122099539 single base substitution C T intron_variant ESAD-UK 4 122100074 122100074 single base substitution A C intron_variant ESAD-UK 4 122101105 122101105 single base substitution T C intron_variant ESAD-UK 4 122101259 122101259 single base substitution A T intron_variant ESAD-UK 4 122102076 122102076 single base substitution C T intron_variant ESAD-UK 4 122102249 122102249 single base substitution A C intron_variant ESAD-UK 4 122102679 122102679 single base substitution A G intron_variant ESAD-UK 4 122103975 122103975 single base substitution T C intron_variant ESAD-UK 4 122104011 122104011 single base substitution G A intron_variant ESAD-UK 4 122104086 122104086 single base substitution T G intron_variant ESAD-UK 4 122104314 122104314 single base substitution A C intron_variant ESAD-UK 4 122104849 122104849 single base substitution C T intron_variant ESAD-UK 4 122105557 122105557 single base substitution T G intron_variant ESAD-UK 4 122106066 122106066 single base substitution T G intron_variant ESAD-UK 4 122106590 122106590 single base substitution T G intron_variant ESAD-UK 4 122107037 122107037 single base substitution T C intron_variant ESAD-UK 4 122107390 122107390 single base substitution T G intron_variant ESAD-UK 4 122107773 122107773 single base substitution G C intron_variant ESAD-UK 4 122108558 122108558 single base substitution G A intron_variant ESAD-UK 4 122109792 122109792 single base substitution T C intron_variant ESAD-UK 4 122109904 122109904 single base substitution A T intron_variant ESAD-UK 4 122111318 122111318 single base substitution A G intron_variant ESAD-UK 4 122111790 122111790 single base substitution G T intron_variant ESAD-UK 4 122112487 122112487 single base substitution T G intron_variant ESAD-UK 4 122112681 122112681 single base substitution A C intron_variant ESAD-UK 4 122112806 122112806 single base substitution G A intron_variant ESAD-UK 4 122113332 122113332 single base substitution A G intron_variant ESAD-UK 4 122113448 122113448 single base substitution T G intron_variant ESAD-UK 4 122113796 122113796 deletion of <=200bp A - intron_variant ESAD-UK 4 122114282 122114282 single base substitution G T intron_variant ESAD-UK 4 122114506 122114506 single base substitution C G intron_variant ESAD-UK 4 122114570 122114570 single base substitution A G intron_variant ESAD-UK 4 122114619 122114619 single base substitution A C intron_variant ESAD-UK 4 122114629 122114629 single base substitution A G intron_variant ESAD-UK 4 122114736 122114736 single base substitution A C intron_variant ESAD-UK 4 122116367 122116367 single base substitution T A intron_variant ESAD-UK 4 122116568 122116568 single base substitution C A intron_variant ESAD-UK 4 122117713 122117713 deletion of <=200bp T - intron_variant ESAD-UK 4 122117837 122117837 single base substitution G T intron_variant ESAD-UK 4 122118543 122118543 single base substitution C T intron_variant ESAD-UK 4 122121117 122121117 single base substitution G T intron_variant ESAD-UK 4 122121342 122121342 single base substitution T G intron_variant ESAD-UK 4 122121492 122121492 single base substitution A C intron_variant ESAD-UK 4 122121492 122121492 single base substitution A G intron_variant ESAD-UK 4 122122134 122122134 single base substitution G T intron_variant ESAD-UK 4 122122275 122122275 single base substitution T C intron_variant ESAD-UK 4 122122305 122122305 single base substitution A G intron_variant ESAD-UK 4 122122333 122122333 single base substitution A G intron_variant ESAD-UK 4 122122928 122122928 single base substitution G T intron_variant ESAD-UK 4 122123540 122123540 single base substitution T G intron_variant ESAD-UK 4 122124035 122124035 single base substitution A T intron_variant ESAD-UK 4 122124038 122124038 single base substitution T G intron_variant ESAD-UK 4 122124055 122124055 single base substitution G T intron_variant ESAD-UK 4 122124063 122124063 single base substitution C A intron_variant ESAD-UK 4 122124557 122124557 single base substitution A C intron_variant ESAD-UK 4 122125740 122125740 single base substitution C T intron_variant ESAD-UK 4 122126186 122126186 single base substitution C A intron_variant ESAD-UK 4 122126422 122126422 single base substitution G C intron_variant ESAD-UK 4 122126453 122126453 single base substitution C T intron_variant ESAD-UK 4 122126668 122126668 insertion of <=200bp - G intron_variant ESAD-UK 4 122127148 122127148 single base substitution A C intron_variant ESAD-UK 4 122127482 122127482 single base substitution T C intron_variant ESAD-UK 4 122127803 122127803 single base substitution G C intron_variant ESAD-UK 4 122128526 122128526 single base substitution A T intron_variant ESAD-UK 4 122129019 122129019 single base substitution T G intron_variant ESAD-UK 4 122129488 122129488 single base substitution A G intron_variant ESAD-UK 4 122130007 122130007 single base substitution A C intron_variant ESAD-UK 4 122131466 122131466 single base substitution T A intron_variant ESAD-UK 4 122131964 122131964 single base substitution A T intron_variant ESAD-UK 4 122132321 122132321 single base substitution T G intron_variant ESAD-UK 4 122132492 122132492 single base substitution T G intron_variant ESAD-UK 4 122132681 122132681 single base substitution C G intron_variant ESAD-UK 4 122132685 122132685 single base substitution A G intron_variant ESAD-UK 4 122133007 122133007 single base substitution G T intron_variant ESAD-UK 4 122133181 122133181 single base substitution C A intron_variant ESAD-UK 4 122133763 122133763 single base substitution G A intron_variant ESAD-UK 4 122134059 122134059 single base substitution T G intron_variant ESAD-UK 4 122134583 122134583 insertion of <=200bp - A intron_variant ESAD-UK 4 122136050 122136050 single base substitution G A intron_variant ESAD-UK 4 122136396 122136396 single base substitution G T intron_variant ESAD-UK 4 122136428 122136428 single base substitution G A intron_variant ESAD-UK 4 122136531 122136531 single base substitution G T intron_variant ESAD-UK 4 122137415 122137415 single base substitution C T intron_variant ESAD-UK 4 122140042 122140042 single base substitution C A intron_variant ESAD-UK 4 122140042 122140042 single base substitution C A upstream_gene_variant ESAD-UK 4 122140832 122140832 single base substitution A G intron_variant ESAD-UK 4 122140832 122140832 single base substitution A G upstream_gene_variant ESAD-UK 4 122141017 122141017 single base substitution T G intron_variant ESAD-UK 4 122141017 122141017 single base substitution T G upstream_gene_variant ESAD-UK 4 122141087 122141087 single base substitution T G intron_variant ESAD-UK 4 122141087 122141087 single base substitution T G upstream_gene_variant ESAD-UK 4 122141217 122141217 single base substitution A G intron_variant ESAD-UK 4 122141217 122141217 single base substitution A G upstream_gene_variant ESAD-UK 4 122141869 122141869 single base substitution G T intron_variant ESAD-UK 4 122141869 122141869 single base substitution G T upstream_gene_variant ESAD-UK 4 122141907 122141907 single base substitution G A intron_variant ESAD-UK 4 122141907 122141907 single base substitution G A upstream_gene_variant ESAD-UK 4 122142192 122142192 single base substitution C T intron_variant ESAD-UK 4 122142192 122142192 single base substitution C T upstream_gene_variant ESAD-UK 4 122142203 122142203 single base substitution T G intron_variant ESAD-UK 4 122142203 122142203 single base substitution T G upstream_gene_variant ESAD-UK 4 122142288 122142288 single base substitution G T intron_variant ESAD-UK 4 122142288 122142288 single base substitution G T upstream_gene_variant ESAD-UK 4 122142325 122142325 single base substitution A G intron_variant ESAD-UK 4 122142325 122142325 single base substitution A G upstream_gene_variant ESAD-UK 4 122142354 122142354 single base substitution T C intron_variant ESAD-UK 4 122142354 122142354 single base substitution T C upstream_gene_variant ESAD-UK 4 122142836 122142836 single base substitution T G intron_variant ESAD-UK 4 122143751 122143751 single base substitution G C intron_variant ESAD-UK 4 122144399 122144399 single base substitution C T intron_variant ESAD-UK 4 122144619 122144619 single base substitution G A intron_variant ESAD-UK 4 122144978 122144978 single base substitution C A intron_variant ESAD-UK 4 122145075 122145075 single base substitution A C intron_variant ESAD-UK 4 122146192 122146192 single base substitution G T intron_variant ESAD-UK 4 122146627 122146627 single base substitution G T intron_variant ESAD-UK 4 122146704 122146704 single base substitution G C intron_variant ESAD-UK 4 122146783 122146783 single base substitution G A intron_variant ESAD-UK 4 122146789 122146789 single base substitution G A intron_variant ESAD-UK 4 122147046 122147046 single base substitution G C intron_variant ESAD-UK 4 122147193 122147193 single base substitution G A intron_variant ESAD-UK 4 122147208 122147208 single base substitution G A intron_variant ESAD-UK 4 122147276 122147276 single base substitution G C intron_variant ESAD-UK 4 122147395 122147398 deletion of <=200bp AGAG - intron_variant ESAD-UK 4 122147723 122147723 single base substitution G T intron_variant ESAD-UK 4 122147927 122147927 single base substitution C G intron_variant ESAD-UK 4 122148858 122148858 single base substitution T A upstream_gene_variant ESAD-UK 4 122149375 122149375 single base substitution T G upstream_gene_variant ESAD-UK 4 122150075 122150075 single base substitution A G upstream_gene_variant ESAD-UK 4 122151205 122151205 single base substitution C T upstream_gene_variant ESAD-UK 4 122152455 122152455 single base substitution A G upstream_gene_variant ESAD-UK 4 122153208 122153208 single base substitution A C upstream_gene_variant ESAD-UK 4 122153292 122153292 single base substitution A G upstream_gene_variant ESAD-UK 4 122153406 122153406 single base substitution A C upstream_gene_variant ESCA-CN 4 122053799 122053799 single base substitution T G 3_prime_UTR_variant ESCA-CN 4 122053799 122053799 single base substitution T G downstream_gene_variant ESCA-CN 4 122053799 122053799 single base substitution T G exon_variant ESCA-CN 4 122053799 122053799 single base substitution T G missense_variant K322T 965A>C ESCA-CN 4 122071291 122071293 deletion of <=200bp CTC - downstream_gene_variant ESCA-CN 4 122071291 122071293 deletion of <=200bp CTC - exon_variant ESCA-CN 4 122071291 122071293 deletion of <=200bp CTC - inframe_deletion E192 ESCA-CN 4 122071291 122071293 deletion of <=200bp CTC - inframe_deletion E262 ESCA-CN 4 122071291 122071293 deletion of <=200bp CTC - inframe_deletion E269 ESCA-CN 4 122071291 122071293 deletion of <=200bp CTC - upstream_gene_variant GBM-US 4 122075742 122075742 single base substitution C G exon_variant GBM-US 4 122075742 122075742 single base substitution C G missense_variant K152N 456G>C GBM-US 4 122075742 122075742 single base substitution C G missense_variant K222N 666G>C GBM-US 4 122075742 122075742 single base substitution C G missense_variant K229N 687G>C GBM-US 4 122075742 122075742 single base substitution C G upstream_gene_variant GBM-US 4 122085228 122085228 single base substitution G A exon_variant GBM-US 4 122085228 122085228 single base substitution G A missense_variant T18M 53C>T GBM-US 4 122085228 122085228 single base substitution G A missense_variant T88M 263C>T GBM-US 4 122085228 122085228 single base substitution G A missense_variant T95M 284C>T LAML-KR 4 122063987 122063987 single base substitution C A intron_variant LAML-KR 4 122063987 122063987 single base substitution C A upstream_gene_variant LAML-KR 4 122075861 122075861 single base substitution T G intron_variant LAML-KR 4 122075861 122075861 single base substitution T G upstream_gene_variant LAML-KR 4 122080938 122080938 single base substitution T C intron_variant LAML-KR 4 122080938 122080938 single base substitution T C upstream_gene_variant LIAD-FR 4 122063018 122063018 single base substitution A G exon_variant LIAD-FR 4 122063018 122063018 single base substitution A G missense_variant W13R 37T>C LIAD-FR 4 122063018 122063018 single base substitution A G missense_variant W280R 838T>C LIAD-FR 4 122063018 122063018 single base substitution A G missense_variant W350R 1048T>C LIAD-FR 4 122063018 122063018 single base substitution A G missense_variant W357R 1069T>C LICA-FR 4 122053565 122053565 single base substitution T C 3_prime_UTR_variant LICA-FR 4 122053565 122053565 single base substitution T C downstream_gene_variant LICA-FR 4 122053565 122053565 single base substitution T C exon_variant LICA-FR 4 122053961 122053961 single base substitution C T downstream_gene_variant LICA-FR 4 122053961 122053961 single base substitution C T intron_variant LICA-FR 4 122060510 122060510 single base substitution T C intron_variant LICA-FR 4 122064944 122064944 single base substitution T A intron_variant LICA-FR 4 122064944 122064944 single base substitution T A upstream_gene_variant LICA-FR 4 122070062 122070062 single base substitution T C intron_variant LICA-FR 4 122075931 122075931 single base substitution G C intron_variant LICA-FR 4 122075931 122075931 single base substitution G C upstream_gene_variant LICA-FR 4 122087358 122087358 single base substitution C G intron_variant LICA-FR 4 122087358 122087358 single base substitution C G upstream_gene_variant LICA-FR 4 122089456 122089456 single base substitution G T intron_variant LICA-FR 4 122089456 122089456 single base substitution G T upstream_gene_variant LICA-FR 4 122097219 122097219 single base substitution T C intron_variant LICA-FR 4 122097272 122097272 single base substitution C G intron_variant LICA-FR 4 122116583 122116583 single base substitution A T intron_variant LICA-FR 4 122117736 122117736 single base substitution T G intron_variant LICA-FR 4 122124143 122124143 single base substitution C T intron_variant LICA-FR 4 122140109 122140109 single base substitution C A intron_variant LICA-FR 4 122140109 122140109 single base substitution C A upstream_gene_variant LICA-FR 4 122142134 122142134 deletion of <=200bp C - intron_variant LICA-FR 4 122142134 122142134 deletion of <=200bp C - upstream_gene_variant LICA-FR 4 122143246 122143246 single base substitution T C intron_variant LICA-FR 4 122143377 122143377 single base substitution A T intron_variant LICA-FR 4 122143960 122143961 deletion of <=200bp TT - intron_variant LIHC-US 4 122078361 122078361 single base substitution C A exon_variant LIHC-US 4 122078361 122078361 single base substitution C A missense_variant R154I 461G>T LIHC-US 4 122078361 122078361 single base substitution C A missense_variant R161I 482G>T LIHC-US 4 122078361 122078361 single base substitution C A missense_variant R84I 251G>T LIHC-US 4 122085259 122085259 single base substitution T C exon_variant LIHC-US 4 122085259 122085259 single base substitution T C missense_variant T78A 232A>G LIHC-US 4 122085259 122085259 single base substitution T C missense_variant T85A 253A>G LIHC-US 4 122085259 122085259 single base substitution T C missense_variant T8A 22A>G LINC-JP 4 122050942 122050942 single base substitution G T downstream_gene_variant LINC-JP 4 122052166 122052166 single base substitution T A downstream_gene_variant LINC-JP 4 122053893 122053893 insertion of <=200bp - ATAA downstream_gene_variant LINC-JP 4 122053893 122053893 insertion of <=200bp - ATAA intron_variant LINC-JP 4 122055274 122055274 single base substitution C A downstream_gene_variant LINC-JP 4 122055274 122055274 single base substitution C A intron_variant LINC-JP 4 122056195 122056195 single base substitution A C downstream_gene_variant LINC-JP 4 122056195 122056195 single base substitution A C intron_variant LINC-JP 4 122059581 122059581 single base substitution C A intron_variant LINC-JP 4 122062904 122062904 single base substitution C T intron_variant LINC-JP 4 122072216 122072216 single base substitution A G downstream_gene_variant LINC-JP 4 122072216 122072216 single base substitution A G intron_variant LINC-JP 4 122072216 122072216 single base substitution A G upstream_gene_variant LINC-JP 4 122072730 122072730 single base substitution A T downstream_gene_variant LINC-JP 4 122072730 122072730 single base substitution A T intron_variant LINC-JP 4 122072730 122072730 single base substitution A T upstream_gene_variant LINC-JP 4 122072884 122072884 single base substitution A G downstream_gene_variant LINC-JP 4 122072884 122072884 single base substitution A G intron_variant LINC-JP 4 122072884 122072884 single base substitution A G upstream_gene_variant LINC-JP 4 122073187 122073187 single base substitution A G downstream_gene_variant LINC-JP 4 122073187 122073187 single base substitution A G intron_variant LINC-JP 4 122073187 122073187 single base substitution A G upstream_gene_variant LINC-JP 4 122073244 122073244 single base substitution C G downstream_gene_variant LINC-JP 4 122073244 122073244 single base substitution C G intron_variant LINC-JP 4 122073244 122073244 single base substitution C G upstream_gene_variant LINC-JP 4 122079670 122079670 single base substitution T C intron_variant LINC-JP 4 122079670 122079670 single base substitution T C upstream_gene_variant LINC-JP 4 122085928 122085928 single base substitution T A intron_variant LINC-JP 4 122085928 122085928 single base substitution T A upstream_gene_variant LINC-JP 4 122086964 122086964 single base substitution C T intron_variant LINC-JP 4 122086964 122086964 single base substitution C T upstream_gene_variant LINC-JP 4 122088108 122088108 single base substitution G C intron_variant LINC-JP 4 122088108 122088108 single base substitution G C upstream_gene_variant LINC-JP 4 122092333 122092333 single base substitution G C intron_variant LINC-JP 4 122094425 122094425 single base substitution G C intron_variant LINC-JP 4 122096570 122096570 single base substitution C A intron_variant LINC-JP 4 122100097 122100097 single base substitution A G intron_variant LINC-JP 4 122107677 122107677 single base substitution A T intron_variant LINC-JP 4 122112786 122112786 single base substitution C A intron_variant LINC-JP 4 122124640 122124640 single base substitution G A intron_variant LINC-JP 4 122128112 122128112 single base substitution C A intron_variant LINC-JP 4 122130551 122130551 single base substitution C T intron_variant LINC-JP 4 122150822 122150822 single base substitution C T upstream_gene_variant LIRI-JP 4 122051324 122051324 single base substitution A T downstream_gene_variant LIRI-JP 4 122051750 122051750 single base substitution T C downstream_gene_variant LIRI-JP 4 122052870 122052870 single base substitution C A 3_prime_UTR_variant LIRI-JP 4 122052870 122052870 single base substitution C A downstream_gene_variant LIRI-JP 4 122052944 122052944 single base substitution G T 3_prime_UTR_variant LIRI-JP 4 122052944 122052944 single base substitution G T downstream_gene_variant LIRI-JP 4 122053008 122053008 single base substitution A G 3_prime_UTR_variant LIRI-JP 4 122053008 122053008 single base substitution A G downstream_gene_variant LIRI-JP 4 122054376 122054376 single base substitution A G downstream_gene_variant LIRI-JP 4 122054376 122054376 single base substitution A G intron_variant LIRI-JP 4 122056541 122056541 single base substitution T A downstream_gene_variant LIRI-JP 4 122056541 122056541 single base substitution T A intron_variant LIRI-JP 4 122056944 122056944 single base substitution G A downstream_gene_variant LIRI-JP 4 122056944 122056944 single base substitution G A intron_variant LIRI-JP 4 122056984 122056984 single base substitution T A downstream_gene_variant LIRI-JP 4 122056984 122056984 single base substitution T A intron_variant LIRI-JP 4 122057598 122057598 single base substitution G T downstream_gene_variant LIRI-JP 4 122057598 122057598 single base substitution G T intron_variant LIRI-JP 4 122057626 122057626 single base substitution T C downstream_gene_variant LIRI-JP 4 122057626 122057626 single base substitution T C intron_variant LIRI-JP 4 122058056 122058056 single base substitution G C downstream_gene_variant LIRI-JP 4 122058056 122058056 single base substitution G C intron_variant LIRI-JP 4 122058260 122058260 single base substitution A G downstream_gene_variant LIRI-JP 4 122058260 122058260 single base substitution A G intron_variant LIRI-JP 4 122059245 122059245 single base substitution A G intron_variant LIRI-JP 4 122059419 122059419 single base substitution A G intron_variant LIRI-JP 4 122059466 122059466 single base substitution G T intron_variant LIRI-JP 4 122060003 122060003 single base substitution T A intron_variant LIRI-JP 4 122060298 122060298 single base substitution G T intron_variant LIRI-JP 4 122061204 122061204 single base substitution A T intron_variant LIRI-JP 4 122061247 122061247 single base substitution T G intron_variant LIRI-JP 4 122061348 122061348 single base substitution G A intron_variant LIRI-JP 4 122062301 122062301 single base substitution A G intron_variant LIRI-JP 4 122064207 122064207 single base substitution G A intron_variant LIRI-JP 4 122064207 122064207 single base substitution G A upstream_gene_variant LIRI-JP 4 122064618 122064618 single base substitution T A intron_variant LIRI-JP 4 122064618 122064618 single base substitution T A upstream_gene_variant LIRI-JP 4 122064784 122064784 single base substitution G T intron_variant LIRI-JP 4 122064784 122064784 single base substitution G T upstream_gene_variant LIRI-JP 4 122065618 122065618 single base substitution C A intron_variant LIRI-JP 4 122065618 122065618 single base substitution C A upstream_gene_variant LIRI-JP 4 122066770 122066770 single base substitution A G intron_variant LIRI-JP 4 122066770 122066770 single base substitution A G upstream_gene_variant LIRI-JP 4 122067810 122067810 single base substitution C A intron_variant LIRI-JP 4 122067810 122067810 single base substitution C A upstream_gene_variant LIRI-JP 4 122067927 122067927 single base substitution G A intron_variant LIRI-JP 4 122067927 122067927 single base substitution G A upstream_gene_variant LIRI-JP 4 122069564 122069564 single base substitution C T intron_variant LIRI-JP 4 122070364 122070364 single base substitution T C intron_variant LIRI-JP 4 122070591 122070591 single base substitution T A downstream_gene_variant LIRI-JP 4 122070591 122070591 single base substitution T A intron_variant LIRI-JP 4 122070692 122070692 single base substitution C A downstream_gene_variant LIRI-JP 4 122070692 122070692 single base substitution C A intron_variant LIRI-JP 4 122073202 122073202 single base substitution T A downstream_gene_variant LIRI-JP 4 122073202 122073202 single base substitution T A intron_variant LIRI-JP 4 122073202 122073202 single base substitution T A upstream_gene_variant LIRI-JP 4 122073216 122073216 single base substitution T C downstream_gene_variant LIRI-JP 4 122073216 122073216 single base substitution T C intron_variant LIRI-JP 4 122073216 122073216 single base substitution T C upstream_gene_variant LIRI-JP 4 122073887 122073887 single base substitution T C downstream_gene_variant LIRI-JP 4 122073887 122073887 single base substitution T C intron_variant LIRI-JP 4 122073887 122073887 single base substitution T C upstream_gene_variant LIRI-JP 4 122074166 122074166 single base substitution A T downstream_gene_variant LIRI-JP 4 122074166 122074166 single base substitution A T intron_variant LIRI-JP 4 122074166 122074166 single base substitution A T upstream_gene_variant LIRI-JP 4 122074311 122074311 single base substitution A G downstream_gene_variant LIRI-JP 4 122074311 122074311 single base substitution A G intron_variant LIRI-JP 4 122074311 122074311 single base substitution A G upstream_gene_variant LIRI-JP 4 122074655 122074655 single base substitution A G downstream_gene_variant LIRI-JP 4 122074655 122074655 single base substitution A G intron_variant LIRI-JP 4 122074655 122074655 single base substitution A G upstream_gene_variant LIRI-JP 4 122075376 122075376 single base substitution T C downstream_gene_variant LIRI-JP 4 122075376 122075376 single base substitution T C intron_variant LIRI-JP 4 122075376 122075376 single base substitution T C upstream_gene_variant LIRI-JP 4 122075593 122075593 single base substitution A G exon_variant LIRI-JP 4 122075593 122075593 single base substitution A G intron_variant LIRI-JP 4 122075593 122075593 single base substitution A G upstream_gene_variant LIRI-JP 4 122075994 122075994 single base substitution A G intron_variant LIRI-JP 4 122075994 122075994 single base substitution A G upstream_gene_variant LIRI-JP 4 122076426 122076426 single base substitution C T intron_variant LIRI-JP 4 122076783 122076783 single base substitution T A intron_variant LIRI-JP 4 122079056 122079056 single base substitution C A intron_variant LIRI-JP 4 122079056 122079056 single base substitution C A upstream_gene_variant LIRI-JP 4 122080182 122080182 single base substitution G T intron_variant LIRI-JP 4 122080182 122080182 single base substitution G T upstream_gene_variant LIRI-JP 4 122081892 122081892 single base substitution A G intron_variant LIRI-JP 4 122081892 122081892 single base substitution A G upstream_gene_variant LIRI-JP 4 122082029 122082029 single base substitution T C intron_variant LIRI-JP 4 122082029 122082029 single base substitution T C upstream_gene_variant LIRI-JP 4 122082195 122082195 single base substitution C A intron_variant LIRI-JP 4 122082195 122082195 single base substitution C A upstream_gene_variant LIRI-JP 4 122082785 122082785 single base substitution C T intron_variant LIRI-JP 4 122082785 122082785 single base substitution C T upstream_gene_variant LIRI-JP 4 122083111 122083111 single base substitution G T intron_variant LIRI-JP 4 122083111 122083111 single base substitution G T upstream_gene_variant LIRI-JP 4 122085232 122085232 single base substitution A T exon_variant LIRI-JP 4 122085232 122085232 single base substitution A T missense_variant S17T 49T>A LIRI-JP 4 122085232 122085232 single base substitution A T missense_variant S87T 259T>A LIRI-JP 4 122085232 122085232 single base substitution A T missense_variant S94T 280T>A LIRI-JP 4 122085341 122085341 single base substitution A G 5_prime_UTR_variant LIRI-JP 4 122085341 122085341 single base substitution A G exon_variant LIRI-JP 4 122085341 122085341 single base substitution A G intron_variant LIRI-JP 4 122085595 122085595 single base substitution A G intron_variant LIRI-JP 4 122085595 122085595 single base substitution A G upstream_gene_variant LIRI-JP 4 122086751 122086751 single base substitution T C intron_variant LIRI-JP 4 122086751 122086751 single base substitution T C upstream_gene_variant LIRI-JP 4 122088575 122088575 single base substitution A G intron_variant LIRI-JP 4 122088575 122088575 single base substitution A G upstream_gene_variant LIRI-JP 4 122088615 122088615 single base substitution G T intron_variant LIRI-JP 4 122088615 122088615 single base substitution G T upstream_gene_variant LIRI-JP 4 122088758 122088758 single base substitution T A intron_variant LIRI-JP 4 122088758 122088758 single base substitution T A upstream_gene_variant LIRI-JP 4 122090060 122090060 single base substitution T C intron_variant LIRI-JP 4 122090060 122090060 single base substitution T C upstream_gene_variant LIRI-JP 4 122090328 122090328 single base substitution A C intron_variant LIRI-JP 4 122090328 122090328 single base substitution A C upstream_gene_variant LIRI-JP 4 122090364 122090364 single base substitution T C intron_variant LIRI-JP 4 122090364 122090364 single base substitution T C upstream_gene_variant LIRI-JP 4 122090891 122090891 single base substitution T C intron_variant LIRI-JP 4 122091645 122091645 single base substitution T C intron_variant LIRI-JP 4 122092279 122092279 single base substitution A T intron_variant LIRI-JP 4 122092805 122092805 single base substitution A G intron_variant LIRI-JP 4 122093687 122093687 single base substitution C T intron_variant LIRI-JP 4 122093759 122093759 single base substitution A G intron_variant LIRI-JP 4 122094145 122094145 single base substitution G T intron_variant LIRI-JP 4 122094188 122094188 single base substitution C A intron_variant LIRI-JP 4 122094876 122094876 single base substitution C A intron_variant LIRI-JP 4 122096415 122096415 single base substitution G A intron_variant LIRI-JP 4 122097321 122097321 deletion of <=200bp C - intron_variant LIRI-JP 4 122097460 122097460 single base substitution C A intron_variant LIRI-JP 4 122097750 122097750 single base substitution A G intron_variant LIRI-JP 4 122098534 122098534 single base substitution T A intron_variant LIRI-JP 4 122098729 122098729 single base substitution C A intron_variant LIRI-JP 4 122102178 122102178 single base substitution T C intron_variant LIRI-JP 4 122102677 122102677 single base substitution C A intron_variant LIRI-JP 4 122103898 122103898 single base substitution G A 5_prime_UTR_variant LIRI-JP 4 122103898 122103898 single base substitution G A missense_variant A41V 122C>T LIRI-JP 4 122103898 122103898 single base substitution G A missense_variant A48V 143C>T LIRI-JP 4 122105046 122105046 single base substitution T C intron_variant LIRI-JP 4 122106676 122106676 single base substitution C T intron_variant LIRI-JP 4 122107024 122107024 single base substitution G T intron_variant LIRI-JP 4 122107268 122107268 single base substitution C T intron_variant LIRI-JP 4 122107296 122107296 single base substitution G T intron_variant LIRI-JP 4 122108081 122108081 single base substitution T C intron_variant LIRI-JP 4 122108622 122108622 single base substitution G A intron_variant LIRI-JP 4 122110147 122110147 single base substitution A G intron_variant LIRI-JP 4 122110583 122110583 single base substitution A G intron_variant LIRI-JP 4 122112062 122112062 single base substitution G A intron_variant LIRI-JP 4 122114300 122114300 single base substitution T C intron_variant LIRI-JP 4 122114528 122114528 single base substitution T C intron_variant LIRI-JP 4 122114625 122114625 single base substitution G T intron_variant LIRI-JP 4 122114982 122114982 single base substitution A C intron_variant LIRI-JP 4 122117039 122117039 single base substitution G T intron_variant LIRI-JP 4 122118775 122118775 single base substitution A G intron_variant LIRI-JP 4 122119505 122119505 insertion of <=200bp - AT intron_variant LIRI-JP 4 122120362 122120362 single base substitution G T intron_variant LIRI-JP 4 122121217 122121217 single base substitution A G intron_variant LIRI-JP 4 122122232 122122232 single base substitution A C intron_variant LIRI-JP 4 122124081 122124081 single base substitution A G intron_variant LIRI-JP 4 122125339 122125339 single base substitution G T intron_variant LIRI-JP 4 122126384 122126384 single base substitution G T intron_variant LIRI-JP 4 122128156 122128156 single base substitution G A intron_variant LIRI-JP 4 122128248 122128248 single base substitution A G intron_variant LIRI-JP 4 122128368 122128368 single base substitution T A intron_variant LIRI-JP 4 122128549 122128549 single base substitution A T intron_variant LIRI-JP 4 122129447 122129447 single base substitution A T intron_variant LIRI-JP 4 122130249 122130249 single base substitution C T intron_variant LIRI-JP 4 122131408 122131408 single base substitution T C intron_variant LIRI-JP 4 122133347 122133347 single base substitution C A intron_variant LIRI-JP 4 122133536 122133536 single base substitution A G intron_variant LIRI-JP 4 122133912 122133912 insertion of <=200bp - T intron_variant LIRI-JP 4 122134062 122134062 single base substitution G A intron_variant LIRI-JP 4 122134210 122134210 single base substitution A G intron_variant LIRI-JP 4 122136340 122136340 insertion of <=200bp - T intron_variant LIRI-JP 4 122136389 122136389 single base substitution T C intron_variant LIRI-JP 4 122136675 122136675 single base substitution T C intron_variant LIRI-JP 4 122136829 122136829 single base substitution T C intron_variant LIRI-JP 4 122138303 122138303 single base substitution G A intron_variant LIRI-JP 4 122138303 122138303 single base substitution G A upstream_gene_variant LIRI-JP 4 122141063 122141063 single base substitution T C intron_variant LIRI-JP 4 122141063 122141063 single base substitution T C upstream_gene_variant LIRI-JP 4 122141713 122141713 single base substitution C A intron_variant LIRI-JP 4 122141713 122141713 single base substitution C A upstream_gene_variant LIRI-JP 4 122141845 122141845 single base substitution G T intron_variant LIRI-JP 4 122141845 122141845 single base substitution G T upstream_gene_variant LIRI-JP 4 122145460 122145460 single base substitution G A intron_variant LIRI-JP 4 122145934 122145934 single base substitution G A intron_variant LIRI-JP 4 122146862 122146862 single base substitution A T intron_variant LIRI-JP 4 122148343 122148343 single base substitution A G intron_variant LIRI-JP 4 122148546 122148546 single base substitution C T 5_prime_UTR_variant LIRI-JP 4 122150887 122150887 single base substitution G T upstream_gene_variant LIRI-JP 4 122151198 122151198 single base substitution T A upstream_gene_variant LIRI-JP 4 122151549 122151549 single base substitution C T upstream_gene_variant LIRI-JP 4 122152350 122152350 single base substitution C A upstream_gene_variant LIRI-JP 4 122153059 122153059 single base substitution T A upstream_gene_variant LIRI-JP 4 122153170 122153170 single base substitution G T upstream_gene_variant LIRI-JP 4 122153233 122153233 single base substitution T A upstream_gene_variant LUSC-KR 4 122049216 122049216 single base substitution A G downstream_gene_variant LUSC-KR 4 122049751 122049751 single base substitution T A downstream_gene_variant LUSC-KR 4 122051865 122051865 single base substitution T A downstream_gene_variant LUSC-KR 4 122052224 122052224 single base substitution T C downstream_gene_variant LUSC-KR 4 122055172 122055172 single base substitution T C downstream_gene_variant LUSC-KR 4 122055172 122055172 single base substitution T C intron_variant LUSC-KR 4 122063742 122063742 single base substitution C T intron_variant LUSC-KR 4 122063742 122063742 single base substitution C T upstream_gene_variant LUSC-KR 4 122065139 122065139 single base substitution A T intron_variant LUSC-KR 4 122065139 122065139 single base substitution A T upstream_gene_variant LUSC-KR 4 122065634 122065634 single base substitution G T intron_variant LUSC-KR 4 122065634 122065634 single base substitution G T upstream_gene_variant LUSC-KR 4 122069346 122069346 single base substitution A T intron_variant LUSC-KR 4 122069511 122069511 single base substitution C G intron_variant LUSC-KR 4 122073732 122073732 single base substitution C T downstream_gene_variant LUSC-KR 4 122073732 122073732 single base substitution C T intron_variant LUSC-KR 4 122073732 122073732 single base substitution C T upstream_gene_variant LUSC-KR 4 122073858 122073858 single base substitution A C downstream_gene_variant LUSC-KR 4 122073858 122073858 single base substitution A C intron_variant LUSC-KR 4 122073858 122073858 single base substitution A C upstream_gene_variant LUSC-KR 4 122074671 122074671 single base substitution C T downstream_gene_variant LUSC-KR 4 122074671 122074671 single base substitution C T intron_variant LUSC-KR 4 122074671 122074671 single base substitution C T upstream_gene_variant LUSC-KR 4 122075349 122075349 single base substitution G A downstream_gene_variant LUSC-KR 4 122075349 122075349 single base substitution G A intron_variant LUSC-KR 4 122075349 122075349 single base substitution G A upstream_gene_variant LUSC-KR 4 122076085 122076085 single base substitution T A intron_variant LUSC-KR 4 122076085 122076085 single base substitution T A upstream_gene_variant LUSC-KR 4 122078221 122078221 single base substitution C A intron_variant LUSC-KR 4 122078552 122078552 single base substitution G T intron_variant LUSC-KR 4 122078552 122078552 single base substitution G T upstream_gene_variant LUSC-KR 4 122080648 122080648 single base substitution C T intron_variant LUSC-KR 4 122080648 122080648 single base substitution C T upstream_gene_variant LUSC-KR 4 122080678 122080678 single base substitution T C intron_variant LUSC-KR 4 122080678 122080678 single base substitution T C upstream_gene_variant LUSC-KR 4 122087598 122087598 single base substitution G T intron_variant LUSC-KR 4 122087598 122087598 single base substitution G T upstream_gene_variant LUSC-KR 4 122090688 122090688 single base substitution T C intron_variant LUSC-KR 4 122092368 122092368 single base substitution C A intron_variant LUSC-KR 4 122093341 122093341 single base substitution G T intron_variant LUSC-KR 4 122094016 122094016 single base substitution G C intron_variant LUSC-KR 4 122094870 122094870 single base substitution G A intron_variant LUSC-KR 4 122097760 122097760 single base substitution A G intron_variant LUSC-KR 4 122100945 122100945 single base substitution C T intron_variant LUSC-KR 4 122102084 122102084 single base substitution C G intron_variant LUSC-KR 4 122104163 122104163 single base substitution G T intron_variant LUSC-KR 4 122105405 122105405 single base substitution C A intron_variant LUSC-KR 4 122105798 122105798 single base substitution C A intron_variant LUSC-KR 4 122107036 122107036 single base substitution C A intron_variant LUSC-KR 4 122108685 122108685 single base substitution C G intron_variant LUSC-KR 4 122109330 122109330 single base substitution T A intron_variant LUSC-KR 4 122115448 122115448 single base substitution T C intron_variant LUSC-KR 4 122118228 122118228 single base substitution A G intron_variant LUSC-KR 4 122124075 122124075 single base substitution G A intron_variant LUSC-KR 4 122124099 122124099 single base substitution G T intron_variant LUSC-KR 4 122124706 122124706 single base substitution G C intron_variant LUSC-KR 4 122125775 122125775 single base substitution T C intron_variant LUSC-KR 4 122127651 122127651 single base substitution A G intron_variant LUSC-KR 4 122131496 122131496 single base substitution T A intron_variant LUSC-KR 4 122132998 122132998 single base substitution C A intron_variant LUSC-KR 4 122135939 122135939 single base substitution C A intron_variant LUSC-KR 4 122136196 122136196 single base substitution T C intron_variant LUSC-KR 4 122136403 122136403 single base substitution T A intron_variant LUSC-KR 4 122137224 122137224 single base substitution C T intron_variant LUSC-KR 4 122137782 122137782 single base substitution C T 5_prime_UTR_variant LUSC-KR 4 122137782 122137782 single base substitution C T intron_variant LUSC-KR 4 122137782 122137782 single base substitution C T upstream_gene_variant LUSC-KR 4 122138981 122138981 single base substitution G T intron_variant LUSC-KR 4 122138981 122138981 single base substitution G T upstream_gene_variant LUSC-KR 4 122140315 122140315 single base substitution A G intron_variant LUSC-KR 4 122140315 122140315 single base substitution A G upstream_gene_variant LUSC-KR 4 122140648 122140648 single base substitution C G intron_variant LUSC-KR 4 122140648 122140648 single base substitution C G upstream_gene_variant LUSC-KR 4 122140970 122140970 single base substitution A T intron_variant LUSC-KR 4 122140970 122140970 single base substitution A T upstream_gene_variant LUSC-KR 4 122143843 122143843 single base substitution T A intron_variant LUSC-KR 4 122144884 122144884 single base substitution A G intron_variant LUSC-KR 4 122149280 122149280 single base substitution C T upstream_gene_variant LUSC-KR 4 122151744 122151744 single base substitution A G upstream_gene_variant LUSC-KR 4 122152540 122152540 single base substitution C G upstream_gene_variant LUSC-US 4 122068292 122068292 single base substitution G A exon_variant LUSC-US 4 122068292 122068292 single base substitution G A missense_variant S216L 647C>T LUSC-US 4 122068292 122068292 single base substitution G A missense_variant S286L 857C>T LUSC-US 4 122068292 122068292 single base substitution G A missense_variant S293L 878C>T LUSC-US 4 122079902 122079902 single base substitution C A exon_variant LUSC-US 4 122079902 122079902 single base substitution C A synonymous_variant L121L 363G>T LUSC-US 4 122079902 122079902 single base substitution C A synonymous_variant L128L 384G>T LUSC-US 4 122079902 122079902 single base substitution C A synonymous_variant L51L 153G>T LUSC-US 4 122079902 122079902 single base substitution C A upstream_gene_variant LUSC-US 4 122082298 122082298 single base substitution C T exon_variant LUSC-US 4 122082298 122082298 single base substitution C T missense_variant R117K 350G>A LUSC-US 4 122082298 122082298 single base substitution C T missense_variant R124K 371G>A LUSC-US 4 122082298 122082298 single base substitution C T missense_variant R47K 140G>A LUSC-US 4 122082298 122082298 single base substitution C T upstream_gene_variant MALY-DE 4 122050868 122050868 single base substitution C T downstream_gene_variant MALY-DE 4 122055156 122055156 insertion of <=200bp - A downstream_gene_variant MALY-DE 4 122055156 122055156 insertion of <=200bp - A intron_variant MALY-DE 4 122057577 122057577 single base substitution C T downstream_gene_variant MALY-DE 4 122057577 122057577 single base substitution C T intron_variant MALY-DE 4 122059945 122059945 single base substitution A G intron_variant MALY-DE 4 122065097 122065097 single base substitution A G intron_variant MALY-DE 4 122065097 122065097 single base substitution A G upstream_gene_variant MALY-DE 4 122075156 122075157 deletion of <=200bp AC - downstream_gene_variant MALY-DE 4 122075156 122075157 deletion of <=200bp AC - intron_variant MALY-DE 4 122075156 122075157 deletion of <=200bp AC - upstream_gene_variant MALY-DE 4 122076066 122076066 single base substitution A C intron_variant MALY-DE 4 122076066 122076066 single base substitution A C upstream_gene_variant MALY-DE 4 122076579 122076579 single base substitution G T intron_variant MALY-DE 4 122076863 122076863 single base substitution G A intron_variant MALY-DE 4 122081987 122081987 single base substitution A C intron_variant MALY-DE 4 122081987 122081987 single base substitution A C upstream_gene_variant MALY-DE 4 122082221 122082221 single base substitution G A intron_variant MALY-DE 4 122082221 122082221 single base substitution G A upstream_gene_variant MALY-DE 4 122084581 122084581 single base substitution C T intron_variant MALY-DE 4 122086481 122086481 single base substitution G A intron_variant MALY-DE 4 122086481 122086481 single base substitution G A upstream_gene_variant MALY-DE 4 122091978 122091978 deletion of <=200bp T - intron_variant MALY-DE 4 122095830 122095830 deletion of <=200bp A - intron_variant MALY-DE 4 122096335 122096335 single base substitution T G intron_variant MALY-DE 4 122099513 122099513 single base substitution C A intron_variant MALY-DE 4 122100074 122100074 single base substitution A C intron_variant MALY-DE 4 122100812 122100812 single base substitution G T intron_variant MALY-DE 4 122103449 122103449 single base substitution A T intron_variant MALY-DE 4 122103975 122103975 single base substitution T C intron_variant MALY-DE 4 122104074 122104074 single base substitution C T intron_variant MALY-DE 4 122109834 122109834 single base substitution G T intron_variant MALY-DE 4 122111143 122111143 single base substitution G A intron_variant MALY-DE 4 122111934 122111934 single base substitution C T intron_variant MALY-DE 4 122125932 122125932 single base substitution C A intron_variant MALY-DE 4 122129608 122129608 single base substitution A G intron_variant MALY-DE 4 122133095 122133095 single base substitution G T intron_variant MALY-DE 4 122145423 122145423 single base substitution C G intron_variant MALY-DE 4 122146788 122146789 deletion of <=200bp AG - intron_variant MALY-DE 4 122149088 122149088 single base substitution C A upstream_gene_variant MALY-DE 4 122150761 122150761 single base substitution A C upstream_gene_variant MELA-AU 4 122047731 122047731 single base substitution C T downstream_gene_variant MELA-AU 4 122047968 122047968 single base substitution A G downstream_gene_variant MELA-AU 4 122048249 122048249 single base substitution G A downstream_gene_variant MELA-AU 4 122048322 122048322 single base substitution A T downstream_gene_variant MELA-AU 4 122048365 122048365 single base substitution C T downstream_gene_variant MELA-AU 4 122048407 122048407 single base substitution T C downstream_gene_variant MELA-AU 4 122049151 122049151 single base substitution C A downstream_gene_variant MELA-AU 4 122049400 122049400 single base substitution G A downstream_gene_variant MELA-AU 4 122049647 122049647 single base substitution C T downstream_gene_variant MELA-AU 4 122049760 122049760 single base substitution G A downstream_gene_variant MELA-AU 4 122049827 122049827 single base substitution A G downstream_gene_variant MELA-AU 4 122049998 122049998 single base substitution G T downstream_gene_variant MELA-AU 4 122050638 122050638 single base substitution C T downstream_gene_variant MELA-AU 4 122050736 122050736 single base substitution C T downstream_gene_variant MELA-AU 4 122050811 122050811 single base substitution G A downstream_gene_variant MELA-AU 4 122051028 122051028 single base substitution T C downstream_gene_variant MELA-AU 4 122051216 122051216 single base substitution C T downstream_gene_variant MELA-AU 4 122051459 122051459 single base substitution G A downstream_gene_variant MELA-AU 4 122051500 122051500 single base substitution G A downstream_gene_variant MELA-AU 4 122051516 122051516 single base substitution G A downstream_gene_variant MELA-AU 4 122051539 122051539 single base substitution G A downstream_gene_variant MELA-AU 4 122051592 122051592 single base substitution C T downstream_gene_variant MELA-AU 4 122051744 122051744 single base substitution G T downstream_gene_variant MELA-AU 4 122051844 122051844 single base substitution C T downstream_gene_variant MELA-AU 4 122052040 122052040 single base substitution G A downstream_gene_variant MELA-AU 4 122052379 122052379 single base substitution C T downstream_gene_variant MELA-AU 4 122052575 122052575 single base substitution C T 3_prime_UTR_variant MELA-AU 4 122052575 122052575 single base substitution C T downstream_gene_variant MELA-AU 4 122052582 122052582 single base substitution C T 3_prime_UTR_variant MELA-AU 4 122052582 122052582 single base substitution C T downstream_gene_variant MELA-AU 4 122052637 122052637 single base substitution C T 3_prime_UTR_variant MELA-AU 4 122052637 122052637 single base substitution C T downstream_gene_variant MELA-AU 4 122052672 122052672 single base substitution C T 3_prime_UTR_variant MELA-AU 4 122052672 122052672 single base substitution C T downstream_gene_variant MELA-AU 4 122052673 122052673 single base substitution C T 3_prime_UTR_variant MELA-AU 4 122052673 122052673 single base substitution C T downstream_gene_variant MELA-AU 4 122052737 122052737 single base substitution C T 3_prime_UTR_variant MELA-AU 4 122052737 122052737 single base substitution C T downstream_gene_variant MELA-AU 4 122052944 122052944 single base substitution G A 3_prime_UTR_variant MELA-AU 4 122052944 122052944 single base substitution G A downstream_gene_variant MELA-AU 4 122052975 122052975 single base substitution G A 3_prime_UTR_variant MELA-AU 4 122052975 122052975 single base substitution G A downstream_gene_variant MELA-AU 4 122053001 122053001 single base substitution C T 3_prime_UTR_variant MELA-AU 4 122053001 122053001 single base substitution C T downstream_gene_variant MELA-AU 4 122053153 122053153 single base substitution G A 3_prime_UTR_variant MELA-AU 4 122053153 122053153 single base substitution G A downstream_gene_variant MELA-AU 4 122053350 122053350 single base substitution G A 3_prime_UTR_variant MELA-AU 4 122053350 122053350 single base substitution G A downstream_gene_variant MELA-AU 4 122053361 122053361 single base substitution C T 3_prime_UTR_variant MELA-AU 4 122053361 122053361 single base substitution C T downstream_gene_variant MELA-AU 4 122053537 122053538 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 4 122053537 122053538 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 122053608 122053608 single base substitution G A 3_prime_UTR_variant MELA-AU 4 122053608 122053608 single base substitution G A downstream_gene_variant MELA-AU 4 122053608 122053608 single base substitution G A exon_variant MELA-AU 4 122053725 122053725 single base substitution G A 3_prime_UTR_variant MELA-AU 4 122053725 122053725 single base substitution G A downstream_gene_variant MELA-AU 4 122053725 122053725 single base substitution G A exon_variant MELA-AU 4 122053747 122053747 single base substitution C T 3_prime_UTR_variant MELA-AU 4 122053747 122053747 single base substitution C T downstream_gene_variant MELA-AU 4 122053747 122053747 single base substitution C T exon_variant MELA-AU 4 122053963 122053963 single base substitution G A downstream_gene_variant MELA-AU 4 122053963 122053963 single base substitution G A intron_variant MELA-AU 4 122054046 122054046 single base substitution C T downstream_gene_variant MELA-AU 4 122054046 122054046 single base substitution C T intron_variant MELA-AU 4 122054170 122054170 single base substitution A G downstream_gene_variant MELA-AU 4 122054170 122054170 single base substitution A G intron_variant MELA-AU 4 122054173 122054173 single base substitution G A downstream_gene_variant MELA-AU 4 122054173 122054173 single base substitution G A intron_variant MELA-AU 4 122054235 122054235 single base substitution G A downstream_gene_variant MELA-AU 4 122054235 122054235 single base substitution G A intron_variant MELA-AU 4 122054243 122054243 single base substitution C T downstream_gene_variant MELA-AU 4 122054243 122054243 single base substitution C T intron_variant MELA-AU 4 122054271 122054271 single base substitution G A downstream_gene_variant MELA-AU 4 122054271 122054271 single base substitution G A intron_variant MELA-AU 4 122054283 122054283 single base substitution G A downstream_gene_variant MELA-AU 4 122054283 122054283 single base substitution G A intron_variant MELA-AU 4 122054371 122054371 single base substitution G A downstream_gene_variant MELA-AU 4 122054371 122054371 single base substitution G A intron_variant MELA-AU 4 122054417 122054417 single base substitution C T downstream_gene_variant MELA-AU 4 122054417 122054417 single base substitution C T intron_variant MELA-AU 4 122054498 122054498 single base substitution T A downstream_gene_variant MELA-AU 4 122054498 122054498 single base substitution T A intron_variant MELA-AU 4 122054559 122054559 single base substitution T A downstream_gene_variant MELA-AU 4 122054559 122054559 single base substitution T A intron_variant MELA-AU 4 122054698 122054698 single base substitution G A downstream_gene_variant MELA-AU 4 122054698 122054698 single base substitution G A intron_variant MELA-AU 4 122054731 122054731 single base substitution C T downstream_gene_variant MELA-AU 4 122054731 122054731 single base substitution C T intron_variant MELA-AU 4 122054981 122054981 single base substitution G A downstream_gene_variant MELA-AU 4 122054981 122054981 single base substitution G A intron_variant MELA-AU 4 122055033 122055034 multiple base substitution (>=2bp and <=200bp) CT TC downstream_gene_variant MELA-AU 4 122055033 122055034 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 4 122055074 122055074 single base substitution G A downstream_gene_variant MELA-AU 4 122055074 122055074 single base substitution G A intron_variant MELA-AU 4 122055092 122055092 single base substitution G A downstream_gene_variant MELA-AU 4 122055092 122055092 single base substitution G A intron_variant MELA-AU 4 122055148 122055148 single base substitution G A downstream_gene_variant MELA-AU 4 122055148 122055148 single base substitution G A intron_variant MELA-AU 4 122055518 122055518 single base substitution T C downstream_gene_variant MELA-AU 4 122055518 122055518 single base substitution T C intron_variant MELA-AU 4 122055622 122055622 single base substitution C T downstream_gene_variant MELA-AU 4 122055622 122055622 single base substitution C T intron_variant MELA-AU 4 122055966 122055966 single base substitution C T downstream_gene_variant MELA-AU 4 122055966 122055966 single base substitution C T intron_variant MELA-AU 4 122056001 122056001 single base substitution C T downstream_gene_variant MELA-AU 4 122056001 122056001 single base substitution C T intron_variant MELA-AU 4 122056080 122056080 single base substitution G A downstream_gene_variant MELA-AU 4 122056080 122056080 single base substitution G A intron_variant MELA-AU 4 122056110 122056110 single base substitution G A downstream_gene_variant MELA-AU 4 122056110 122056110 single base substitution G A intron_variant MELA-AU 4 122056169 122056169 single base substitution C T downstream_gene_variant MELA-AU 4 122056169 122056169 single base substitution C T intron_variant MELA-AU 4 122056176 122056176 single base substitution G A downstream_gene_variant MELA-AU 4 122056176 122056176 single base substitution G A intron_variant MELA-AU 4 122056215 122056215 single base substitution G A downstream_gene_variant MELA-AU 4 122056215 122056215 single base substitution G A intron_variant MELA-AU 4 122056236 122056236 single base substitution G A downstream_gene_variant MELA-AU 4 122056236 122056236 single base substitution G A intron_variant MELA-AU 4 122056305 122056305 single base substitution G A downstream_gene_variant MELA-AU 4 122056305 122056305 single base substitution G A intron_variant MELA-AU 4 122056363 122056363 single base substitution G A downstream_gene_variant MELA-AU 4 122056363 122056363 single base substitution G A intron_variant MELA-AU 4 122056379 122056379 single base substitution A C downstream_gene_variant MELA-AU 4 122056379 122056379 single base substitution A C intron_variant MELA-AU 4 122056438 122056438 single base substitution C T downstream_gene_variant MELA-AU 4 122056438 122056438 single base substitution C T intron_variant MELA-AU 4 122056753 122056753 single base substitution C T downstream_gene_variant MELA-AU 4 122056753 122056753 single base substitution C T intron_variant MELA-AU 4 122056779 122056779 single base substitution C T downstream_gene_variant MELA-AU 4 122056779 122056779 single base substitution C T intron_variant MELA-AU 4 122056940 122056940 single base substitution G T downstream_gene_variant MELA-AU 4 122056940 122056940 single base substitution G T intron_variant MELA-AU 4 122056942 122056942 single base substitution C T downstream_gene_variant MELA-AU 4 122056942 122056942 single base substitution C T intron_variant MELA-AU 4 122057137 122057137 single base substitution G A downstream_gene_variant MELA-AU 4 122057137 122057137 single base substitution G A intron_variant MELA-AU 4 122057644 122057644 single base substitution C T downstream_gene_variant MELA-AU 4 122057644 122057644 single base substitution C T intron_variant MELA-AU 4 122057742 122057742 single base substitution G A downstream_gene_variant MELA-AU 4 122057742 122057742 single base substitution G A intron_variant MELA-AU 4 122057742 122057742 single base substitution G A splice_region_variant MELA-AU 4 122057798 122057798 single base substitution G A downstream_gene_variant MELA-AU 4 122057798 122057798 single base substitution G A exon_variant MELA-AU 4 122057798 122057798 single base substitution G A intron_variant MELA-AU 4 122057863 122057863 single base substitution A T downstream_gene_variant MELA-AU 4 122057863 122057863 single base substitution A T intron_variant MELA-AU 4 122058182 122058182 single base substitution C T downstream_gene_variant MELA-AU 4 122058182 122058182 single base substitution C T intron_variant MELA-AU 4 122058225 122058225 single base substitution C T downstream_gene_variant MELA-AU 4 122058225 122058225 single base substitution C T intron_variant MELA-AU 4 122058307 122058307 single base substitution A T downstream_gene_variant MELA-AU 4 122058307 122058307 single base substitution A T intron_variant MELA-AU 4 122058344 122058344 single base substitution T G downstream_gene_variant MELA-AU 4 122058344 122058344 single base substitution T G intron_variant MELA-AU 4 122058468 122058468 single base substitution T A downstream_gene_variant MELA-AU 4 122058468 122058468 single base substitution T A intron_variant MELA-AU 4 122058980 122058980 single base substitution G A 3_prime_UTR_variant MELA-AU 4 122058980 122058980 single base substitution G A intron_variant MELA-AU 4 122059264 122059264 single base substitution C T intron_variant MELA-AU 4 122059326 122059326 single base substitution G A intron_variant MELA-AU 4 122059704 122059704 single base substitution T A intron_variant MELA-AU 4 122059779 122059779 single base substitution C T intron_variant MELA-AU 4 122059779 122059779 single base substitution C T missense_variant E49K 145G>A MELA-AU 4 122059779 122059779 single base substitution C T missense_variant G316S 946G>A MELA-AU 4 122059779 122059779 single base substitution C T splice_region_variant MELA-AU 4 122060035 122060035 single base substitution C T intron_variant MELA-AU 4 122060070 122060071 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 122060236 122060236 single base substitution G A intron_variant MELA-AU 4 122060821 122060821 single base substitution C T intron_variant MELA-AU 4 122060983 122060983 single base substitution G A intron_variant MELA-AU 4 122061019 122061019 single base substitution G A intron_variant MELA-AU 4 122061043 122061043 single base substitution C T intron_variant MELA-AU 4 122061392 122061392 single base substitution G A intron_variant MELA-AU 4 122061424 122061424 single base substitution G A intron_variant MELA-AU 4 122061465 122061465 single base substitution G A intron_variant MELA-AU 4 122061476 122061476 single base substitution G A intron_variant MELA-AU 4 122061509 122061509 single base substitution A T intron_variant MELA-AU 4 122061567 122061567 single base substitution C T intron_variant MELA-AU 4 122061690 122061690 single base substitution A C intron_variant MELA-AU 4 122061749 122061749 single base substitution C T intron_variant MELA-AU 4 122061834 122061834 single base substitution T A intron_variant MELA-AU 4 122061852 122061852 single base substitution A C intron_variant MELA-AU 4 122061857 122061857 deletion of <=200bp T - intron_variant MELA-AU 4 122061982 122061982 single base substitution G A intron_variant MELA-AU 4 122061991 122061991 single base substitution C T intron_variant MELA-AU 4 122062012 122062012 single base substitution A T intron_variant MELA-AU 4 122062081 122062081 single base substitution C T intron_variant MELA-AU 4 122062095 122062095 single base substitution G A intron_variant MELA-AU 4 122062177 122062177 single base substitution G A intron_variant MELA-AU 4 122062183 122062183 single base substitution C T intron_variant MELA-AU 4 122062297 122062297 single base substitution G A intron_variant MELA-AU 4 122062515 122062515 single base substitution C T intron_variant MELA-AU 4 122062527 122062527 single base substitution C T intron_variant MELA-AU 4 122062588 122062588 single base substitution C T intron_variant MELA-AU 4 122062743 122062743 single base substitution C T intron_variant MELA-AU 4 122062835 122062835 single base substitution C T intron_variant MELA-AU 4 122062864 122062864 single base substitution A T intron_variant MELA-AU 4 122062952 122062952 single base substitution C T intron_variant MELA-AU 4 122063089 122063089 single base substitution G A intron_variant MELA-AU 4 122063089 122063089 single base substitution G A upstream_gene_variant MELA-AU 4 122063283 122063283 single base substitution C T intron_variant MELA-AU 4 122063283 122063283 single base substitution C T upstream_gene_variant MELA-AU 4 122063423 122063423 single base substitution G A intron_variant MELA-AU 4 122063423 122063423 single base substitution G A upstream_gene_variant MELA-AU 4 122063443 122063443 single base substitution G A intron_variant MELA-AU 4 122063443 122063443 single base substitution G A upstream_gene_variant MELA-AU 4 122063501 122063501 single base substitution G A intron_variant MELA-AU 4 122063501 122063501 single base substitution G A upstream_gene_variant MELA-AU 4 122063977 122063977 single base substitution C T intron_variant MELA-AU 4 122063977 122063977 single base substitution C T upstream_gene_variant MELA-AU 4 122063982 122063982 single base substitution A T intron_variant MELA-AU 4 122063982 122063982 single base substitution A T upstream_gene_variant MELA-AU 4 122064158 122064158 single base substitution C T intron_variant MELA-AU 4 122064158 122064158 single base substitution C T upstream_gene_variant MELA-AU 4 122064160 122064160 single base substitution G C intron_variant MELA-AU 4 122064160 122064160 single base substitution G C upstream_gene_variant MELA-AU 4 122064195 122064200 deletion of <=200bp ACAATT - intron_variant MELA-AU 4 122064195 122064200 deletion of <=200bp ACAATT - upstream_gene_variant MELA-AU 4 122064339 122064339 single base substitution C G intron_variant MELA-AU 4 122064339 122064339 single base substitution C G upstream_gene_variant MELA-AU 4 122064601 122064601 single base substitution G A intron_variant MELA-AU 4 122064601 122064601 single base substitution G A upstream_gene_variant MELA-AU 4 122064695 122064695 single base substitution G A intron_variant MELA-AU 4 122064695 122064695 single base substitution G A upstream_gene_variant MELA-AU 4 122064942 122064942 single base substitution A C intron_variant MELA-AU 4 122064942 122064942 single base substitution A C upstream_gene_variant MELA-AU 4 122065086 122065086 single base substitution C T intron_variant MELA-AU 4 122065086 122065086 single base substitution C T upstream_gene_variant MELA-AU 4 122065261 122065261 single base substitution G A intron_variant MELA-AU 4 122065261 122065261 single base substitution G A upstream_gene_variant MELA-AU 4 122065355 122065355 single base substitution C T intron_variant MELA-AU 4 122065355 122065355 single base substitution C T upstream_gene_variant MELA-AU 4 122065792 122065792 single base substitution G A intron_variant MELA-AU 4 122065792 122065792 single base substitution G A upstream_gene_variant MELA-AU 4 122065872 122065872 single base substitution C T intron_variant MELA-AU 4 122065872 122065872 single base substitution C T upstream_gene_variant MELA-AU 4 122066093 122066093 single base substitution G A intron_variant MELA-AU 4 122066093 122066093 single base substitution G A upstream_gene_variant MELA-AU 4 122066112 122066112 single base substitution G A intron_variant MELA-AU 4 122066112 122066112 single base substitution G A upstream_gene_variant MELA-AU 4 122066139 122066139 single base substitution C T intron_variant MELA-AU 4 122066139 122066139 single base substitution C T upstream_gene_variant MELA-AU 4 122066219 122066219 single base substitution G A intron_variant MELA-AU 4 122066219 122066219 single base substitution G A upstream_gene_variant MELA-AU 4 122066263 122066263 single base substitution G T intron_variant MELA-AU 4 122066263 122066263 single base substitution G T upstream_gene_variant MELA-AU 4 122066503 122066503 single base substitution T C intron_variant MELA-AU 4 122066503 122066503 single base substitution T C upstream_gene_variant MELA-AU 4 122066693 122066693 single base substitution C T intron_variant MELA-AU 4 122066693 122066693 single base substitution C T upstream_gene_variant MELA-AU 4 122067058 122067058 single base substitution G A intron_variant MELA-AU 4 122067058 122067058 single base substitution G A upstream_gene_variant MELA-AU 4 122067086 122067086 single base substitution C T intron_variant MELA-AU 4 122067086 122067086 single base substitution C T upstream_gene_variant MELA-AU 4 122067156 122067156 single base substitution G A intron_variant MELA-AU 4 122067156 122067156 single base substitution G A upstream_gene_variant MELA-AU 4 122067186 122067186 single base substitution C T intron_variant MELA-AU 4 122067186 122067186 single base substitution C T upstream_gene_variant MELA-AU 4 122067224 122067224 single base substitution G A intron_variant MELA-AU 4 122067224 122067224 single base substitution G A upstream_gene_variant MELA-AU 4 122067428 122067428 single base substitution G A intron_variant MELA-AU 4 122067428 122067428 single base substitution G A upstream_gene_variant MELA-AU 4 122067455 122067455 single base substitution G A intron_variant MELA-AU 4 122067455 122067455 single base substitution G A upstream_gene_variant MELA-AU 4 122067627 122067627 single base substitution A G intron_variant MELA-AU 4 122067627 122067627 single base substitution A G upstream_gene_variant MELA-AU 4 122067727 122067727 single base substitution C T intron_variant MELA-AU 4 122067727 122067727 single base substitution C T upstream_gene_variant MELA-AU 4 122068034 122068034 single base substitution C T intron_variant MELA-AU 4 122068034 122068034 single base substitution C T upstream_gene_variant MELA-AU 4 122068077 122068077 single base substitution C T intron_variant MELA-AU 4 122068317 122068317 single base substitution C T exon_variant MELA-AU 4 122068317 122068317 single base substitution C T missense_variant E208K 622G>A MELA-AU 4 122068317 122068317 single base substitution C T missense_variant E278K 832G>A MELA-AU 4 122068317 122068317 single base substitution C T missense_variant E285K 853G>A MELA-AU 4 122068334 122068334 single base substitution G A splice_region_variant MELA-AU 4 122068408 122068408 single base substitution C T intron_variant MELA-AU 4 122068493 122068493 single base substitution G A intron_variant MELA-AU 4 122068580 122068580 single base substitution C T intron_variant MELA-AU 4 122069021 122069021 single base substitution A T intron_variant MELA-AU 4 122069082 122069082 single base substitution G A intron_variant MELA-AU 4 122069278 122069278 single base substitution A C intron_variant MELA-AU 4 122069295 122069295 single base substitution C T intron_variant MELA-AU 4 122069900 122069900 single base substitution C T intron_variant MELA-AU 4 122070023 122070023 single base substitution C T intron_variant MELA-AU 4 122070132 122070132 single base substitution C T intron_variant MELA-AU 4 122070140 122070140 single base substitution T C intron_variant MELA-AU 4 122070409 122070409 single base substitution G A downstream_gene_variant MELA-AU 4 122070409 122070409 single base substitution G A intron_variant MELA-AU 4 122070456 122070456 single base substitution A T downstream_gene_variant MELA-AU 4 122070456 122070456 single base substitution A T intron_variant MELA-AU 4 122070530 122070530 single base substitution T C downstream_gene_variant MELA-AU 4 122070530 122070530 single base substitution T C intron_variant MELA-AU 4 122070704 122070704 single base substitution G A downstream_gene_variant MELA-AU 4 122070704 122070704 single base substitution G A intron_variant MELA-AU 4 122070816 122070816 single base substitution G A downstream_gene_variant MELA-AU 4 122070816 122070816 single base substitution G A intron_variant MELA-AU 4 122070869 122070869 single base substitution G A downstream_gene_variant MELA-AU 4 122070869 122070869 single base substitution G A intron_variant MELA-AU 4 122071005 122071005 single base substitution C T downstream_gene_variant MELA-AU 4 122071005 122071005 single base substitution C T intron_variant MELA-AU 4 122071043 122071043 single base substitution C T downstream_gene_variant MELA-AU 4 122071043 122071043 single base substitution C T intron_variant MELA-AU 4 122071060 122071060 single base substitution C T downstream_gene_variant MELA-AU 4 122071060 122071060 single base substitution C T intron_variant MELA-AU 4 122071061 122071061 single base substitution C T downstream_gene_variant MELA-AU 4 122071061 122071061 single base substitution C T intron_variant MELA-AU 4 122071199 122071199 single base substitution G A downstream_gene_variant MELA-AU 4 122071199 122071199 single base substitution G A intron_variant MELA-AU 4 122071206 122071206 single base substitution G A downstream_gene_variant MELA-AU 4 122071206 122071206 single base substitution G A intron_variant MELA-AU 4 122071236 122071236 single base substitution C T downstream_gene_variant MELA-AU 4 122071236 122071236 single base substitution C T intron_variant MELA-AU 4 122071385 122071385 single base substitution A G downstream_gene_variant MELA-AU 4 122071385 122071385 single base substitution A G intron_variant MELA-AU 4 122071385 122071385 single base substitution A G upstream_gene_variant MELA-AU 4 122071570 122071570 single base substitution C T downstream_gene_variant MELA-AU 4 122071570 122071570 single base substitution C T intron_variant MELA-AU 4 122071570 122071570 single base substitution C T upstream_gene_variant MELA-AU 4 122072600 122072600 single base substitution G A downstream_gene_variant MELA-AU 4 122072600 122072600 single base substitution G A intron_variant MELA-AU 4 122072600 122072600 single base substitution G A upstream_gene_variant MELA-AU 4 122073363 122073363 single base substitution G A downstream_gene_variant MELA-AU 4 122073363 122073363 single base substitution G A intron_variant MELA-AU 4 122073363 122073363 single base substitution G A upstream_gene_variant MELA-AU 4 122073431 122073431 single base substitution G A downstream_gene_variant MELA-AU 4 122073431 122073431 single base substitution G A intron_variant MELA-AU 4 122073431 122073431 single base substitution G A upstream_gene_variant MELA-AU 4 122073495 122073495 single base substitution C T downstream_gene_variant MELA-AU 4 122073495 122073495 single base substitution C T intron_variant MELA-AU 4 122073495 122073495 single base substitution C T upstream_gene_variant MELA-AU 4 122073589 122073589 single base substitution T C downstream_gene_variant MELA-AU 4 122073589 122073589 single base substitution T C intron_variant MELA-AU 4 122073589 122073589 single base substitution T C upstream_gene_variant MELA-AU 4 122073784 122073784 single base substitution G A downstream_gene_variant MELA-AU 4 122073784 122073784 single base substitution G A intron_variant MELA-AU 4 122073784 122073784 single base substitution G A upstream_gene_variant MELA-AU 4 122073851 122073851 single base substitution C T downstream_gene_variant MELA-AU 4 122073851 122073851 single base substitution C T intron_variant MELA-AU 4 122073851 122073851 single base substitution C T upstream_gene_variant MELA-AU 4 122073872 122073872 single base substitution G A downstream_gene_variant MELA-AU 4 122073872 122073872 single base substitution G A intron_variant MELA-AU 4 122073872 122073872 single base substitution G A upstream_gene_variant MELA-AU 4 122074040 122074040 single base substitution G A downstream_gene_variant MELA-AU 4 122074040 122074040 single base substitution G A intron_variant MELA-AU 4 122074040 122074040 single base substitution G A upstream_gene_variant MELA-AU 4 122074164 122074164 single base substitution A T downstream_gene_variant MELA-AU 4 122074164 122074164 single base substitution A T intron_variant MELA-AU 4 122074164 122074164 single base substitution A T upstream_gene_variant MELA-AU 4 122074283 122074283 single base substitution C T downstream_gene_variant MELA-AU 4 122074283 122074283 single base substitution C T intron_variant MELA-AU 4 122074283 122074283 single base substitution C T upstream_gene_variant MELA-AU 4 122074478 122074478 single base substitution C T downstream_gene_variant MELA-AU 4 122074478 122074478 single base substitution C T intron_variant MELA-AU 4 122074478 122074478 single base substitution C T upstream_gene_variant MELA-AU 4 122074524 122074524 single base substitution G A downstream_gene_variant MELA-AU 4 122074524 122074524 single base substitution G A intron_variant MELA-AU 4 122074524 122074524 single base substitution G A upstream_gene_variant MELA-AU 4 122074652 122074652 single base substitution G A downstream_gene_variant MELA-AU 4 122074652 122074652 single base substitution G A intron_variant MELA-AU 4 122074652 122074652 single base substitution G A upstream_gene_variant MELA-AU 4 122074653 122074653 single base substitution G A downstream_gene_variant MELA-AU 4 122074653 122074653 single base substitution G A intron_variant MELA-AU 4 122074653 122074653 single base substitution G A upstream_gene_variant MELA-AU 4 122074750 122074750 single base substitution C T downstream_gene_variant MELA-AU 4 122074750 122074750 single base substitution C T intron_variant MELA-AU 4 122074750 122074750 single base substitution C T upstream_gene_variant MELA-AU 4 122074908 122074908 single base substitution C T downstream_gene_variant MELA-AU 4 122074908 122074908 single base substitution C T intron_variant MELA-AU 4 122074908 122074908 single base substitution C T upstream_gene_variant MELA-AU 4 122075423 122075423 single base substitution T A exon_variant MELA-AU 4 122075423 122075423 single base substitution T A intron_variant MELA-AU 4 122075423 122075423 single base substitution T A upstream_gene_variant MELA-AU 4 122075487 122075487 single base substitution G A exon_variant MELA-AU 4 122075487 122075487 single base substitution G A intron_variant MELA-AU 4 122075487 122075487 single base substitution G A upstream_gene_variant MELA-AU 4 122075748 122075748 single base substitution C T exon_variant MELA-AU 4 122075748 122075748 single base substitution C T synonymous_variant K150K 450G>A MELA-AU 4 122075748 122075748 single base substitution C T synonymous_variant K220K 660G>A MELA-AU 4 122075748 122075748 single base substitution C T synonymous_variant K227K 681G>A MELA-AU 4 122075748 122075748 single base substitution C T upstream_gene_variant MELA-AU 4 122075940 122075940 single base substitution C T intron_variant MELA-AU 4 122075940 122075940 single base substitution C T upstream_gene_variant MELA-AU 4 122076094 122076094 single base substitution G A intron_variant MELA-AU 4 122076094 122076094 single base substitution G A upstream_gene_variant MELA-AU 4 122076096 122076096 single base substitution A T intron_variant MELA-AU 4 122076096 122076096 single base substitution A T upstream_gene_variant MELA-AU 4 122076167 122076167 single base substitution G A intron_variant MELA-AU 4 122076167 122076167 single base substitution G A upstream_gene_variant MELA-AU 4 122076177 122076177 single base substitution G C intron_variant MELA-AU 4 122076177 122076177 single base substitution G C upstream_gene_variant MELA-AU 4 122076359 122076359 single base substitution C T intron_variant MELA-AU 4 122076543 122076543 single base substitution C T intron_variant MELA-AU 4 122076547 122076547 single base substitution A C intron_variant MELA-AU 4 122076567 122076567 single base substitution C T intron_variant MELA-AU 4 122076572 122076572 single base substitution T A intron_variant MELA-AU 4 122076582 122076582 single base substitution G A intron_variant MELA-AU 4 122076588 122076588 single base substitution G A intron_variant MELA-AU 4 122076707 122076707 single base substitution C T intron_variant MELA-AU 4 122076820 122076820 single base substitution T C intron_variant MELA-AU 4 122077176 122077176 single base substitution G A intron_variant MELA-AU 4 122077217 122077217 single base substitution G A intron_variant MELA-AU 4 122077534 122077534 single base substitution G A intron_variant MELA-AU 4 122078221 122078221 single base substitution C G intron_variant MELA-AU 4 122078256 122078256 single base substitution C T exon_variant MELA-AU 4 122078256 122078256 single base substitution C T missense_variant R119Q 356G>A MELA-AU 4 122078256 122078256 single base substitution C T missense_variant R189Q 566G>A MELA-AU 4 122078256 122078256 single base substitution C T missense_variant R196Q 587G>A MELA-AU 4 122078761 122078761 single base substitution G A intron_variant MELA-AU 4 122078761 122078761 single base substitution G A upstream_gene_variant MELA-AU 4 122078802 122078802 single base substitution G A intron_variant MELA-AU 4 122078802 122078802 single base substitution G A upstream_gene_variant MELA-AU 4 122079065 122079065 single base substitution G A intron_variant MELA-AU 4 122079065 122079065 single base substitution G A upstream_gene_variant MELA-AU 4 122079155 122079155 single base substitution G A intron_variant MELA-AU 4 122079155 122079155 single base substitution G A upstream_gene_variant MELA-AU 4 122079163 122079163 single base substitution G A intron_variant MELA-AU 4 122079163 122079163 single base substitution G A upstream_gene_variant MELA-AU 4 122079293 122079293 single base substitution A C intron_variant MELA-AU 4 122079293 122079293 single base substitution A C upstream_gene_variant MELA-AU 4 122079725 122079725 single base substitution C T intron_variant MELA-AU 4 122079725 122079725 single base substitution C T upstream_gene_variant MELA-AU 4 122079850 122079850 single base substitution C T exon_variant MELA-AU 4 122079850 122079850 single base substitution C T missense_variant E139K 415G>A MELA-AU 4 122079850 122079850 single base substitution C T missense_variant E146K 436G>A MELA-AU 4 122079850 122079850 single base substitution C T missense_variant E69K 205G>A MELA-AU 4 122079850 122079850 single base substitution C T upstream_gene_variant MELA-AU 4 122080376 122080376 single base substitution C G intron_variant MELA-AU 4 122080376 122080376 single base substitution C G upstream_gene_variant MELA-AU 4 122080668 122080668 single base substitution T A intron_variant MELA-AU 4 122080668 122080668 single base substitution T A upstream_gene_variant MELA-AU 4 122080729 122080729 single base substitution G A intron_variant MELA-AU 4 122080729 122080729 single base substitution G A upstream_gene_variant MELA-AU 4 122080735 122080735 single base substitution C T intron_variant MELA-AU 4 122080735 122080735 single base substitution C T upstream_gene_variant MELA-AU 4 122080893 122080893 single base substitution C T intron_variant MELA-AU 4 122080893 122080893 single base substitution C T upstream_gene_variant MELA-AU 4 122080956 122080956 single base substitution G A intron_variant MELA-AU 4 122080956 122080956 single base substitution G A upstream_gene_variant MELA-AU 4 122080983 122080983 single base substitution G A intron_variant MELA-AU 4 122080983 122080983 single base substitution G A upstream_gene_variant MELA-AU 4 122081009 122081009 single base substitution G T intron_variant MELA-AU 4 122081009 122081009 single base substitution G T upstream_gene_variant MELA-AU 4 122081234 122081234 single base substitution C T intron_variant MELA-AU 4 122081234 122081234 single base substitution C T upstream_gene_variant MELA-AU 4 122081382 122081382 single base substitution C T intron_variant MELA-AU 4 122081382 122081382 single base substitution C T upstream_gene_variant MELA-AU 4 122081501 122081502 multiple base substitution (>=2bp and <=200bp) GT AG intron_variant MELA-AU 4 122081501 122081502 multiple base substitution (>=2bp and <=200bp) GT AG upstream_gene_variant MELA-AU 4 122081800 122081800 single base substitution A G intron_variant MELA-AU 4 122081800 122081800 single base substitution A G upstream_gene_variant MELA-AU 4 122081952 122081952 single base substitution G A intron_variant MELA-AU 4 122081952 122081952 single base substitution G A upstream_gene_variant MELA-AU 4 122081954 122081954 single base substitution G A intron_variant MELA-AU 4 122081954 122081954 single base substitution G A upstream_gene_variant MELA-AU 4 122082175 122082175 single base substitution T A intron_variant MELA-AU 4 122082175 122082175 single base substitution T A upstream_gene_variant MELA-AU 4 122082334 122082334 single base substitution G A exon_variant MELA-AU 4 122082334 122082334 single base substitution G A missense_variant S105F 314C>T MELA-AU 4 122082334 122082334 single base substitution G A missense_variant S112F 335C>T MELA-AU 4 122082334 122082334 single base substitution G A missense_variant S35F 104C>T MELA-AU 4 122082334 122082334 single base substitution G A upstream_gene_variant MELA-AU 4 122082511 122082511 single base substitution C T intron_variant MELA-AU 4 122082511 122082511 single base substitution C T upstream_gene_variant MELA-AU 4 122082683 122082683 single base substitution C T intron_variant MELA-AU 4 122082683 122082683 single base substitution C T upstream_gene_variant MELA-AU 4 122082845 122082845 single base substitution G A intron_variant MELA-AU 4 122082845 122082845 single base substitution G A upstream_gene_variant MELA-AU 4 122082897 122082897 single base substitution C T intron_variant MELA-AU 4 122082897 122082897 single base substitution C T upstream_gene_variant MELA-AU 4 122082991 122082991 single base substitution C A intron_variant MELA-AU 4 122082991 122082991 single base substitution C A upstream_gene_variant MELA-AU 4 122083155 122083155 single base substitution G A intron_variant MELA-AU 4 122083155 122083155 single base substitution G A upstream_gene_variant MELA-AU 4 122083350 122083350 single base substitution G A intron_variant MELA-AU 4 122083350 122083350 single base substitution G A upstream_gene_variant MELA-AU 4 122083369 122083369 single base substitution C T intron_variant MELA-AU 4 122083369 122083369 single base substitution C T upstream_gene_variant MELA-AU 4 122083529 122083529 single base substitution A T intron_variant MELA-AU 4 122083564 122083564 single base substitution G A intron_variant MELA-AU 4 122083750 122083750 single base substitution C T intron_variant MELA-AU 4 122083947 122083947 single base substitution C T intron_variant MELA-AU 4 122083986 122083986 single base substitution C T intron_variant MELA-AU 4 122083994 122083994 single base substitution G A intron_variant MELA-AU 4 122084184 122084184 single base substitution G A intron_variant MELA-AU 4 122084231 122084231 single base substitution C T intron_variant MELA-AU 4 122084265 122084265 single base substitution T C intron_variant MELA-AU 4 122084315 122084315 single base substitution G A intron_variant MELA-AU 4 122084322 122084322 single base substitution G A intron_variant MELA-AU 4 122084594 122084594 single base substitution C T intron_variant MELA-AU 4 122084610 122084610 single base substitution C T intron_variant MELA-AU 4 122084622 122084622 single base substitution C T intron_variant MELA-AU 4 122084631 122084631 single base substitution T G intron_variant MELA-AU 4 122084662 122084662 single base substitution C T intron_variant MELA-AU 4 122084768 122084768 single base substitution G A intron_variant MELA-AU 4 122084884 122084884 single base substitution G A intron_variant MELA-AU 4 122085164 122085164 single base substitution T G intron_variant MELA-AU 4 122085281 122085281 single base substitution G A 5_prime_UTR_variant MELA-AU 4 122085281 122085281 single base substitution G A exon_variant MELA-AU 4 122085281 122085281 single base substitution G A synonymous_variant S70S 210C>T MELA-AU 4 122085281 122085281 single base substitution G A synonymous_variant S77S 231C>T MELA-AU 4 122085294 122085294 single base substitution C T 5_prime_UTR_variant MELA-AU 4 122085294 122085294 single base substitution C T exon_variant MELA-AU 4 122085294 122085294 single base substitution C T missense_variant G66E 197G>A MELA-AU 4 122085294 122085294 single base substitution C T missense_variant G73E 218G>A MELA-AU 4 122085431 122085431 single base substitution C T 5_prime_UTR_variant MELA-AU 4 122085431 122085431 single base substitution C T exon_variant MELA-AU 4 122085431 122085431 single base substitution C T intron_variant MELA-AU 4 122085846 122085846 single base substitution C T intron_variant MELA-AU 4 122085846 122085846 single base substitution C T upstream_gene_variant MELA-AU 4 122085912 122085912 single base substitution A T intron_variant MELA-AU 4 122085912 122085912 single base substitution A T upstream_gene_variant MELA-AU 4 122086036 122086036 single base substitution G A intron_variant MELA-AU 4 122086036 122086036 single base substitution G A upstream_gene_variant MELA-AU 4 122086085 122086085 single base substitution C T intron_variant MELA-AU 4 122086085 122086085 single base substitution C T upstream_gene_variant MELA-AU 4 122086096 122086096 single base substitution C T intron_variant MELA-AU 4 122086096 122086096 single base substitution C T upstream_gene_variant MELA-AU 4 122086229 122086229 single base substitution G A intron_variant MELA-AU 4 122086229 122086229 single base substitution G A upstream_gene_variant MELA-AU 4 122086246 122086246 single base substitution G A intron_variant MELA-AU 4 122086246 122086246 single base substitution G A upstream_gene_variant MELA-AU 4 122086330 122086330 single base substitution G A intron_variant MELA-AU 4 122086330 122086330 single base substitution G A upstream_gene_variant MELA-AU 4 122086592 122086592 single base substitution C T intron_variant MELA-AU 4 122086592 122086592 single base substitution C T upstream_gene_variant MELA-AU 4 122086596 122086596 single base substitution C T intron_variant MELA-AU 4 122086596 122086596 single base substitution C T upstream_gene_variant MELA-AU 4 122086657 122086657 single base substitution G A intron_variant MELA-AU 4 122086657 122086657 single base substitution G A upstream_gene_variant MELA-AU 4 122086669 122086669 single base substitution C T intron_variant MELA-AU 4 122086669 122086669 single base substitution C T upstream_gene_variant MELA-AU 4 122086795 122086795 single base substitution C T intron_variant MELA-AU 4 122086795 122086795 single base substitution C T upstream_gene_variant MELA-AU 4 122086953 122086953 single base substitution C T intron_variant MELA-AU 4 122086953 122086953 single base substitution C T upstream_gene_variant MELA-AU 4 122086984 122086984 single base substitution C T intron_variant MELA-AU 4 122086984 122086984 single base substitution C T upstream_gene_variant MELA-AU 4 122087712 122087712 single base substitution T A intron_variant MELA-AU 4 122087712 122087712 single base substitution T A upstream_gene_variant MELA-AU 4 122087773 122087773 single base substitution G A intron_variant MELA-AU 4 122087773 122087773 single base substitution G A upstream_gene_variant MELA-AU 4 122087780 122087780 single base substitution G A intron_variant MELA-AU 4 122087780 122087780 single base substitution G A upstream_gene_variant MELA-AU 4 122087921 122087921 single base substitution C T intron_variant MELA-AU 4 122087921 122087921 single base substitution C T upstream_gene_variant MELA-AU 4 122088280 122088280 single base substitution G A intron_variant MELA-AU 4 122088280 122088280 single base substitution G A upstream_gene_variant MELA-AU 4 122088343 122088343 single base substitution G A intron_variant MELA-AU 4 122088343 122088343 single base substitution G A upstream_gene_variant MELA-AU 4 122088362 122088362 single base substitution C T intron_variant MELA-AU 4 122088362 122088362 single base substitution C T upstream_gene_variant MELA-AU 4 122088436 122088436 single base substitution G A intron_variant MELA-AU 4 122088436 122088436 single base substitution G A upstream_gene_variant MELA-AU 4 122088469 122088469 single base substitution G A intron_variant MELA-AU 4 122088469 122088469 single base substitution G A upstream_gene_variant MELA-AU 4 122088580 122088580 single base substitution G A intron_variant MELA-AU 4 122088580 122088580 single base substitution G A upstream_gene_variant MELA-AU 4 122088624 122088624 single base substitution G A intron_variant MELA-AU 4 122088624 122088624 single base substitution G A upstream_gene_variant MELA-AU 4 122088686 122088686 single base substitution C T intron_variant MELA-AU 4 122088686 122088686 single base substitution C T upstream_gene_variant MELA-AU 4 122088748 122088748 single base substitution G A intron_variant MELA-AU 4 122088748 122088748 single base substitution G A upstream_gene_variant MELA-AU 4 122088859 122088859 single base substitution C T intron_variant MELA-AU 4 122088859 122088859 single base substitution C T upstream_gene_variant MELA-AU 4 122088924 122088924 single base substitution A C intron_variant MELA-AU 4 122088924 122088924 single base substitution A C upstream_gene_variant MELA-AU 4 122088974 122088974 single base substitution C T intron_variant MELA-AU 4 122088974 122088974 single base substitution C T upstream_gene_variant MELA-AU 4 122088984 122088984 single base substitution G A intron_variant MELA-AU 4 122088984 122088984 single base substitution G A upstream_gene_variant MELA-AU 4 122089124 122089124 single base substitution C T intron_variant MELA-AU 4 122089124 122089124 single base substitution C T upstream_gene_variant MELA-AU 4 122089188 122089188 single base substitution G A intron_variant MELA-AU 4 122089188 122089188 single base substitution G A upstream_gene_variant MELA-AU 4 122089410 122089410 single base substitution G A intron_variant MELA-AU 4 122089410 122089410 single base substitution G A upstream_gene_variant MELA-AU 4 122089430 122089430 single base substitution C T intron_variant MELA-AU 4 122089430 122089430 single base substitution C T upstream_gene_variant MELA-AU 4 122089763 122089763 single base substitution A G intron_variant MELA-AU 4 122089763 122089763 single base substitution A G upstream_gene_variant MELA-AU 4 122089900 122089900 single base substitution C T intron_variant MELA-AU 4 122089900 122089900 single base substitution C T upstream_gene_variant MELA-AU 4 122090065 122090065 single base substitution C G intron_variant MELA-AU 4 122090065 122090065 single base substitution C G upstream_gene_variant MELA-AU 4 122090161 122090161 single base substitution C T intron_variant MELA-AU 4 122090161 122090161 single base substitution C T upstream_gene_variant MELA-AU 4 122090206 122090206 single base substitution C T intron_variant MELA-AU 4 122090206 122090206 single base substitution C T upstream_gene_variant MELA-AU 4 122090365 122090365 single base substitution C T intron_variant MELA-AU 4 122090365 122090365 single base substitution C T upstream_gene_variant MELA-AU 4 122090382 122090382 single base substitution C T intron_variant MELA-AU 4 122090382 122090382 single base substitution C T upstream_gene_variant MELA-AU 4 122090448 122090448 single base substitution G A intron_variant MELA-AU 4 122090448 122090448 single base substitution G A upstream_gene_variant MELA-AU 4 122090460 122090460 single base substitution C T intron_variant MELA-AU 4 122090460 122090460 single base substitution C T upstream_gene_variant MELA-AU 4 122090490 122090490 single base substitution C A intron_variant MELA-AU 4 122090490 122090490 single base substitution C A upstream_gene_variant MELA-AU 4 122090605 122090605 single base substitution C T intron_variant MELA-AU 4 122090743 122090743 single base substitution G A intron_variant MELA-AU 4 122090950 122090950 single base substitution G A intron_variant MELA-AU 4 122090954 122090954 single base substitution C T intron_variant MELA-AU 4 122090986 122090986 single base substitution C T intron_variant MELA-AU 4 122091117 122091117 single base substitution G A intron_variant MELA-AU 4 122091148 122091148 single base substitution C T intron_variant MELA-AU 4 122091205 122091205 single base substitution C T intron_variant MELA-AU 4 122091222 122091222 single base substitution C T intron_variant MELA-AU 4 122091268 122091268 single base substitution C T intron_variant MELA-AU 4 122091564 122091564 single base substitution T A intron_variant MELA-AU 4 122091637 122091637 single base substitution C T intron_variant MELA-AU 4 122091953 122091953 single base substitution C T intron_variant MELA-AU 4 122092072 122092072 single base substitution G A intron_variant MELA-AU 4 122092222 122092222 single base substitution C T intron_variant MELA-AU 4 122092248 122092248 single base substitution G A intron_variant MELA-AU 4 122092408 122092408 single base substitution G A intron_variant MELA-AU 4 122092494 122092494 single base substitution G A intron_variant MELA-AU 4 122092745 122092745 single base substitution C T intron_variant MELA-AU 4 122092753 122092753 single base substitution C T intron_variant MELA-AU 4 122092855 122092855 single base substitution G A intron_variant MELA-AU 4 122092976 122092976 single base substitution C T intron_variant MELA-AU 4 122093008 122093008 single base substitution C T intron_variant MELA-AU 4 122093126 122093126 single base substitution G A intron_variant MELA-AU 4 122093130 122093130 single base substitution C T intron_variant MELA-AU 4 122093137 122093137 single base substitution C T intron_variant MELA-AU 4 122093154 122093154 single base substitution C T intron_variant MELA-AU 4 122093434 122093434 single base substitution C T intron_variant MELA-AU 4 122093547 122093547 single base substitution C T intron_variant MELA-AU 4 122093634 122093634 single base substitution G A intron_variant MELA-AU 4 122093885 122093885 single base substitution C T intron_variant MELA-AU 4 122094067 122094067 single base substitution T A intron_variant MELA-AU 4 122094227 122094227 single base substitution G C intron_variant MELA-AU 4 122094258 122094258 single base substitution C T intron_variant MELA-AU 4 122094438 122094438 single base substitution G A intron_variant MELA-AU 4 122094459 122094459 single base substitution T C intron_variant MELA-AU 4 122094549 122094549 single base substitution G A intron_variant MELA-AU 4 122094695 122094695 single base substitution G A intron_variant MELA-AU 4 122094809 122094809 single base substitution A G intron_variant MELA-AU 4 122095233 122095233 single base substitution C T intron_variant MELA-AU 4 122095279 122095279 single base substitution G A intron_variant MELA-AU 4 122095322 122095322 single base substitution C T intron_variant MELA-AU 4 122095619 122095619 single base substitution G A intron_variant MELA-AU 4 122095829 122095829 single base substitution G A intron_variant MELA-AU 4 122095841 122095841 single base substitution G A intron_variant MELA-AU 4 122096162 122096162 single base substitution G A intron_variant MELA-AU 4 122096446 122096446 single base substitution T C intron_variant MELA-AU 4 122096793 122096793 single base substitution C T intron_variant MELA-AU 4 122096996 122096996 single base substitution T A intron_variant MELA-AU 4 122097114 122097114 single base substitution C T intron_variant MELA-AU 4 122097359 122097359 single base substitution A G intron_variant MELA-AU 4 122097559 122097559 single base substitution C T intron_variant MELA-AU 4 122097658 122097658 single base substitution C T intron_variant MELA-AU 4 122097712 122097712 single base substitution G A intron_variant MELA-AU 4 122097731 122097731 single base substitution C T intron_variant MELA-AU 4 122098083 122098083 single base substitution C T intron_variant MELA-AU 4 122098111 122098111 single base substitution C T intron_variant MELA-AU 4 122098205 122098205 single base substitution C T intron_variant MELA-AU 4 122098779 122098779 single base substitution C T intron_variant MELA-AU 4 122098957 122098957 single base substitution G T intron_variant MELA-AU 4 122099278 122099278 single base substitution G A intron_variant MELA-AU 4 122099301 122099301 single base substitution G A intron_variant MELA-AU 4 122099571 122099571 single base substitution G A intron_variant MELA-AU 4 122099881 122099881 single base substitution G A intron_variant MELA-AU 4 122099889 122099889 single base substitution G A intron_variant MELA-AU 4 122099891 122099891 single base substitution G A intron_variant MELA-AU 4 122099986 122099986 single base substitution T C intron_variant MELA-AU 4 122100120 122100120 single base substitution G A intron_variant MELA-AU 4 122100185 122100185 single base substitution G A intron_variant MELA-AU 4 122100212 122100212 single base substitution G A intron_variant MELA-AU 4 122100300 122100300 single base substitution G A intron_variant MELA-AU 4 122100307 122100307 single base substitution C T intron_variant MELA-AU 4 122100396 122100396 single base substitution G A intron_variant MELA-AU 4 122100409 122100409 single base substitution G A intron_variant MELA-AU 4 122100490 122100490 single base substitution G A intron_variant MELA-AU 4 122100573 122100573 single base substitution C T intron_variant MELA-AU 4 122100633 122100633 single base substitution C T intron_variant MELA-AU 4 122100652 122100652 single base substitution G A intron_variant MELA-AU 4 122100813 122100813 single base substitution G A intron_variant MELA-AU 4 122100892 122100892 single base substitution G A intron_variant MELA-AU 4 122101095 122101095 single base substitution G A intron_variant MELA-AU 4 122101291 122101291 single base substitution C T intron_variant MELA-AU 4 122101966 122101966 single base substitution C T intron_variant MELA-AU 4 122102011 122102011 single base substitution C T intron_variant MELA-AU 4 122102027 122102027 single base substitution C T intron_variant MELA-AU 4 122102172 122102172 single base substitution C T intron_variant MELA-AU 4 122102184 122102184 single base substitution C T intron_variant MELA-AU 4 122102189 122102189 single base substitution G A intron_variant MELA-AU 4 122102195 122102195 single base substitution C T intron_variant MELA-AU 4 122102205 122102205 single base substitution G A intron_variant MELA-AU 4 122102207 122102207 single base substitution G A intron_variant MELA-AU 4 122102224 122102224 single base substitution C T intron_variant MELA-AU 4 122102374 122102374 single base substitution G A intron_variant MELA-AU 4 122102410 122102410 single base substitution G A intron_variant MELA-AU 4 122102465 122102465 single base substitution G A intron_variant MELA-AU 4 122102667 122102667 single base substitution G A intron_variant MELA-AU 4 122102930 122102930 single base substitution C T intron_variant MELA-AU 4 122102931 122102931 single base substitution C T intron_variant MELA-AU 4 122103041 122103041 single base substitution G A intron_variant MELA-AU 4 122103164 122103164 single base substitution T C intron_variant MELA-AU 4 122103415 122103415 single base substitution C T intron_variant MELA-AU 4 122103468 122103468 single base substitution C T intron_variant MELA-AU 4 122103801 122103801 single base substitution G A intron_variant MELA-AU 4 122103825 122103825 single base substitution T C splice_region_variant MELA-AU 4 122103826 122103826 single base substitution C T splice_region_variant MELA-AU 4 122103970 122103970 single base substitution G A intron_variant MELA-AU 4 122104058 122104058 single base substitution C T intron_variant MELA-AU 4 122104458 122104458 single base substitution G A intron_variant MELA-AU 4 122104539 122104539 single base substitution G A intron_variant MELA-AU 4 122104545 122104545 single base substitution C T intron_variant MELA-AU 4 122104625 122104625 single base substitution C T intron_variant MELA-AU 4 122104651 122104651 single base substitution C T intron_variant MELA-AU 4 122104712 122104712 single base substitution G A intron_variant MELA-AU 4 122104783 122104783 single base substitution C T intron_variant MELA-AU 4 122104928 122104928 single base substitution C T intron_variant MELA-AU 4 122104951 122104951 single base substitution G A intron_variant MELA-AU 4 122105148 122105148 single base substitution G A intron_variant MELA-AU 4 122105367 122105367 single base substitution G A intron_variant MELA-AU 4 122105930 122105930 single base substitution G A intron_variant MELA-AU 4 122105950 122105950 single base substitution G A intron_variant MELA-AU 4 122106049 122106049 single base substitution G A intron_variant MELA-AU 4 122106088 122106088 single base substitution C T intron_variant MELA-AU 4 122106293 122106293 single base substitution G A intron_variant MELA-AU 4 122106331 122106331 single base substitution C T intron_variant MELA-AU 4 122106471 122106471 single base substitution C T intron_variant MELA-AU 4 122106478 122106478 single base substitution C T intron_variant MELA-AU 4 122106667 122106667 single base substitution G A intron_variant MELA-AU 4 122106750 122106750 single base substitution A C intron_variant MELA-AU 4 122106755 122106755 single base substitution G A intron_variant MELA-AU 4 122106873 122106873 single base substitution G A intron_variant MELA-AU 4 122107072 122107073 multiple base substitution (>=2bp and <=200bp) TA GT intron_variant MELA-AU 4 122107103 122107103 single base substitution T C intron_variant MELA-AU 4 122107152 122107152 single base substitution G A intron_variant MELA-AU 4 122107316 122107316 single base substitution C T intron_variant MELA-AU 4 122108013 122108013 single base substitution G A intron_variant MELA-AU 4 122108151 122108151 single base substitution C T intron_variant MELA-AU 4 122108367 122108367 single base substitution T C intron_variant MELA-AU 4 122108450 122108450 single base substitution G A intron_variant MELA-AU 4 122108749 122108749 single base substitution C T intron_variant MELA-AU 4 122108959 122108959 single base substitution C T intron_variant MELA-AU 4 122108967 122108967 single base substitution C T intron_variant MELA-AU 4 122109212 122109212 single base substitution G A intron_variant MELA-AU 4 122109221 122109221 single base substitution G A intron_variant MELA-AU 4 122109242 122109242 single base substitution G A intron_variant MELA-AU 4 122109270 122109270 single base substitution A T intron_variant MELA-AU 4 122109338 122109338 single base substitution A C intron_variant MELA-AU 4 122109343 122109343 single base substitution C T intron_variant MELA-AU 4 122109347 122109347 single base substitution C T intron_variant MELA-AU 4 122109398 122109398 single base substitution A T intron_variant MELA-AU 4 122109642 122109642 single base substitution C T intron_variant MELA-AU 4 122110211 122110211 single base substitution G A intron_variant MELA-AU 4 122110275 122110275 single base substitution A G intron_variant MELA-AU 4 122110443 122110443 single base substitution A G intron_variant MELA-AU 4 122110556 122110556 single base substitution C T intron_variant MELA-AU 4 122110695 122110695 single base substitution A T intron_variant MELA-AU 4 122110740 122110740 single base substitution C T intron_variant MELA-AU 4 122110851 122110851 single base substitution G A intron_variant MELA-AU 4 122110942 122110942 single base substitution A G intron_variant MELA-AU 4 122111195 122111195 single base substitution G C intron_variant MELA-AU 4 122111423 122111423 single base substitution C T intron_variant MELA-AU 4 122111900 122111910 deletion of <=200bp GAACCTTAACC - intron_variant MELA-AU 4 122111924 122111924 single base substitution C T intron_variant MELA-AU 4 122112040 122112040 single base substitution G A intron_variant MELA-AU 4 122112123 122112123 single base substitution C A intron_variant MELA-AU 4 122112158 122112158 single base substitution C T intron_variant MELA-AU 4 122112215 122112215 single base substitution G A intron_variant MELA-AU 4 122112408 122112408 single base substitution G A intron_variant MELA-AU 4 122112768 122112768 single base substitution C T intron_variant MELA-AU 4 122112826 122112826 single base substitution G A intron_variant MELA-AU 4 122112860 122112860 single base substitution C T intron_variant MELA-AU 4 122112913 122112913 single base substitution C T intron_variant MELA-AU 4 122113059 122113059 single base substitution G A intron_variant MELA-AU 4 122113222 122113222 single base substitution T C intron_variant MELA-AU 4 122113253 122113253 single base substitution G A intron_variant MELA-AU 4 122113259 122113259 single base substitution C T intron_variant MELA-AU 4 122113394 122113394 single base substitution C G intron_variant MELA-AU 4 122113546 122113546 single base substitution C T intron_variant MELA-AU 4 122113881 122113881 deletion of <=200bp A - intron_variant MELA-AU 4 122113922 122113922 single base substitution C T intron_variant MELA-AU 4 122114146 122114146 single base substitution C T intron_variant MELA-AU 4 122114444 122114444 single base substitution G A intron_variant MELA-AU 4 122114460 122114460 single base substitution G A intron_variant MELA-AU 4 122114466 122114466 single base substitution C T intron_variant MELA-AU 4 122114514 122114514 single base substitution G A intron_variant MELA-AU 4 122114557 122114557 single base substitution G A intron_variant MELA-AU 4 122114577 122114577 single base substitution G A intron_variant MELA-AU 4 122114697 122114697 single base substitution C T intron_variant MELA-AU 4 122114718 122114718 single base substitution G A intron_variant MELA-AU 4 122114851 122114851 single base substitution A T intron_variant MELA-AU 4 122114866 122114866 single base substitution G A intron_variant MELA-AU 4 122114867 122114867 single base substitution G A intron_variant MELA-AU 4 122115186 122115186 single base substitution G A intron_variant MELA-AU 4 122115268 122115268 single base substitution G A intron_variant MELA-AU 4 122115594 122115594 single base substitution C T intron_variant MELA-AU 4 122115641 122115641 single base substitution G A intron_variant MELA-AU 4 122116035 122116035 single base substitution C T intron_variant MELA-AU 4 122116083 122116083 single base substitution G A intron_variant MELA-AU 4 122116114 122116114 single base substitution G A intron_variant MELA-AU 4 122116248 122116248 single base substitution C T intron_variant MELA-AU 4 122116659 122116659 single base substitution A T intron_variant MELA-AU 4 122116667 122116667 single base substitution G A intron_variant MELA-AU 4 122116749 122116749 single base substitution G A intron_variant MELA-AU 4 122116822 122116822 single base substitution G A intron_variant MELA-AU 4 122116999 122117000 multiple base substitution (>=2bp and <=200bp) CA TT intron_variant MELA-AU 4 122117237 122117237 single base substitution G A intron_variant MELA-AU 4 122117333 122117333 single base substitution G A intron_variant MELA-AU 4 122117660 122117660 single base substitution C T intron_variant MELA-AU 4 122117988 122117988 single base substitution G A intron_variant MELA-AU 4 122118043 122118043 single base substitution T A intron_variant MELA-AU 4 122118232 122118232 single base substitution G A intron_variant MELA-AU 4 122118304 122118304 single base substitution G A intron_variant MELA-AU 4 122118480 122118480 single base substitution C T intron_variant MELA-AU 4 122118832 122118832 single base substitution G A intron_variant MELA-AU 4 122119210 122119210 single base substitution G A intron_variant MELA-AU 4 122119719 122119719 single base substitution C T intron_variant MELA-AU 4 122120111 122120111 single base substitution C T intron_variant MELA-AU 4 122120187 122120187 single base substitution G A intron_variant MELA-AU 4 122120282 122120282 single base substitution G A intron_variant MELA-AU 4 122120353 122120353 single base substitution G A intron_variant MELA-AU 4 122120395 122120395 single base substitution C T intron_variant MELA-AU 4 122120576 122120577 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 122121286 122121286 single base substitution C T intron_variant MELA-AU 4 122121400 122121400 single base substitution G A intron_variant MELA-AU 4 122121914 122121914 single base substitution C T intron_variant MELA-AU 4 122121948 122121948 single base substitution G A intron_variant MELA-AU 4 122122179 122122179 single base substitution A C intron_variant MELA-AU 4 122122240 122122240 single base substitution A T intron_variant MELA-AU 4 122122443 122122443 single base substitution G A intron_variant MELA-AU 4 122122596 122122596 single base substitution A C intron_variant MELA-AU 4 122123089 122123089 single base substitution C T intron_variant MELA-AU 4 122123223 122123223 single base substitution C T intron_variant MELA-AU 4 122123465 122123465 single base substitution G A intron_variant MELA-AU 4 122123528 122123528 single base substitution G A intron_variant MELA-AU 4 122123639 122123639 single base substitution C T intron_variant MELA-AU 4 122123696 122123696 single base substitution C A intron_variant MELA-AU 4 122124200 122124200 single base substitution C G intron_variant MELA-AU 4 122124220 122124220 single base substitution C T intron_variant MELA-AU 4 122124321 122124321 single base substitution G A intron_variant MELA-AU 4 122124604 122124604 single base substitution G A intron_variant MELA-AU 4 122124623 122124623 single base substitution G A intron_variant MELA-AU 4 122124824 122124824 single base substitution C T intron_variant MELA-AU 4 122125312 122125313 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 4 122125380 122125380 single base substitution C T intron_variant MELA-AU 4 122125745 122125745 single base substitution C T intron_variant MELA-AU 4 122125966 122125966 single base substitution C T intron_variant MELA-AU 4 122126001 122126001 single base substitution C T intron_variant MELA-AU 4 122126174 122126174 single base substitution C T intron_variant MELA-AU 4 122126191 122126191 single base substitution C T intron_variant MELA-AU 4 122126499 122126499 single base substitution G A intron_variant MELA-AU 4 122126669 122126669 single base substitution G A intron_variant MELA-AU 4 122126676 122126676 single base substitution C T intron_variant MELA-AU 4 122126814 122126814 single base substitution A T intron_variant MELA-AU 4 122127077 122127077 single base substitution G A intron_variant MELA-AU 4 122127094 122127094 single base substitution A C intron_variant MELA-AU 4 122127199 122127199 single base substitution G A intron_variant MELA-AU 4 122127247 122127247 single base substitution G A intron_variant MELA-AU 4 122127251 122127251 single base substitution C T intron_variant MELA-AU 4 122127959 122127959 single base substitution A C intron_variant MELA-AU 4 122128097 122128097 single base substitution G A intron_variant MELA-AU 4 122128259 122128259 single base substitution G A intron_variant MELA-AU 4 122128343 122128343 single base substitution G A intron_variant MELA-AU 4 122128607 122128607 single base substitution G A intron_variant MELA-AU 4 122128851 122128851 single base substitution G A intron_variant MELA-AU 4 122128889 122128889 single base substitution A G intron_variant MELA-AU 4 122129093 122129093 single base substitution G A intron_variant MELA-AU 4 122129101 122129101 single base substitution C T intron_variant MELA-AU 4 122129382 122129382 single base substitution C T intron_variant MELA-AU 4 122129435 122129435 single base substitution C T intron_variant MELA-AU 4 122129562 122129562 single base substitution T C intron_variant MELA-AU 4 122129772 122129772 single base substitution C T intron_variant MELA-AU 4 122130100 122130100 single base substitution C T intron_variant MELA-AU 4 122130101 122130101 single base substitution C T intron_variant MELA-AU 4 122130115 122130115 single base substitution A C intron_variant MELA-AU 4 122130118 122130118 single base substitution G A intron_variant MELA-AU 4 122130151 122130151 single base substitution G A intron_variant MELA-AU 4 122130339 122130339 single base substitution G A intron_variant MELA-AU 4 122130385 122130385 single base substitution C T intron_variant MELA-AU 4 122130733 122130733 single base substitution G A intron_variant MELA-AU 4 122130958 122130958 single base substitution A C intron_variant MELA-AU 4 122131373 122131373 single base substitution G A intron_variant MELA-AU 4 122131428 122131428 single base substitution A G intron_variant MELA-AU 4 122131615 122131615 single base substitution C T intron_variant MELA-AU 4 122131647 122131647 single base substitution C T intron_variant MELA-AU 4 122132015 122132015 single base substitution G A intron_variant MELA-AU 4 122132023 122132023 single base substitution G A intron_variant MELA-AU 4 122132041 122132041 single base substitution C T intron_variant MELA-AU 4 122132067 122132067 single base substitution G A intron_variant MELA-AU 4 122132114 122132114 single base substitution G A intron_variant MELA-AU 4 122132115 122132115 single base substitution G A intron_variant MELA-AU 4 122132189 122132189 single base substitution C T intron_variant MELA-AU 4 122132244 122132244 single base substitution G A intron_variant MELA-AU 4 122132284 122132284 single base substitution C T intron_variant MELA-AU 4 122132409 122132409 single base substitution G A intron_variant MELA-AU 4 122132624 122132624 single base substitution G A intron_variant MELA-AU 4 122132878 122132878 single base substitution G A intron_variant MELA-AU 4 122132978 122132978 single base substitution G A intron_variant MELA-AU 4 122133056 122133056 single base substitution C T intron_variant MELA-AU 4 122133186 122133186 single base substitution G A intron_variant MELA-AU 4 122133412 122133412 single base substitution G A intron_variant MELA-AU 4 122133552 122133552 single base substitution G A intron_variant MELA-AU 4 122133657 122133657 single base substitution G A intron_variant MELA-AU 4 122133785 122133785 single base substitution G A intron_variant MELA-AU 4 122133787 122133787 single base substitution A T intron_variant MELA-AU 4 122133825 122133825 single base substitution C T intron_variant MELA-AU 4 122133847 122133847 single base substitution G A intron_variant MELA-AU 4 122133873 122133873 single base substitution G A intron_variant MELA-AU 4 122134101 122134101 single base substitution C T intron_variant MELA-AU 4 122134111 122134111 single base substitution C T intron_variant MELA-AU 4 122134389 122134389 single base substitution C T intron_variant MELA-AU 4 122134460 122134460 single base substitution C T intron_variant MELA-AU 4 122134550 122134550 single base substitution T C intron_variant MELA-AU 4 122134646 122134647 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 122134650 122134650 single base substitution G A intron_variant MELA-AU 4 122134801 122134801 single base substitution G A intron_variant MELA-AU 4 122134836 122134836 single base substitution C T intron_variant MELA-AU 4 122134876 122134876 single base substitution C T intron_variant MELA-AU 4 122135163 122135163 single base substitution C T intron_variant MELA-AU 4 122135173 122135173 single base substitution G A intron_variant MELA-AU 4 122135482 122135482 single base substitution C T intron_variant MELA-AU 4 122135604 122135604 single base substitution G A intron_variant MELA-AU 4 122135625 122135625 single base substitution G A intron_variant MELA-AU 4 122135635 122135635 single base substitution C T intron_variant MELA-AU 4 122135698 122135698 single base substitution C T intron_variant MELA-AU 4 122135900 122135900 single base substitution C T intron_variant MELA-AU 4 122135930 122135930 single base substitution C T intron_variant MELA-AU 4 122136141 122136141 single base substitution G A intron_variant MELA-AU 4 122136218 122136218 single base substitution G A intron_variant MELA-AU 4 122136306 122136306 single base substitution G A intron_variant MELA-AU 4 122136358 122136358 single base substitution C T intron_variant MELA-AU 4 122136413 122136413 single base substitution G A intron_variant MELA-AU 4 122136649 122136649 single base substitution G A intron_variant MELA-AU 4 122136811 122136811 single base substitution C T intron_variant MELA-AU 4 122137133 122137133 single base substitution G A intron_variant MELA-AU 4 122137150 122137150 single base substitution G A intron_variant MELA-AU 4 122137419 122137419 single base substitution T C intron_variant MELA-AU 4 122137613 122137613 single base substitution C T 5_prime_UTR_variant MELA-AU 4 122137613 122137613 single base substitution C T missense_variant D16N 46G>A MELA-AU 4 122137613 122137613 single base substitution C T missense_variant D9N 25G>A MELA-AU 4 122137677 122137677 single base substitution G A intron_variant MELA-AU 4 122137677 122137677 single base substitution G A upstream_gene_variant MELA-AU 4 122137684 122137684 single base substitution G A intron_variant MELA-AU 4 122137684 122137684 single base substitution G A upstream_gene_variant MELA-AU 4 122137894 122137894 single base substitution A C intron_variant MELA-AU 4 122137894 122137894 single base substitution A C upstream_gene_variant MELA-AU 4 122137913 122137913 single base substitution G A intron_variant MELA-AU 4 122137913 122137913 single base substitution G A upstream_gene_variant MELA-AU 4 122138074 122138074 single base substitution C T intron_variant MELA-AU 4 122138074 122138074 single base substitution C T upstream_gene_variant MELA-AU 4 122138114 122138114 single base substitution G A intron_variant MELA-AU 4 122138114 122138114 single base substitution G A upstream_gene_variant MELA-AU 4 122138122 122138122 single base substitution G A intron_variant MELA-AU 4 122138122 122138122 single base substitution G A upstream_gene_variant MELA-AU 4 122138152 122138152 single base substitution G A intron_variant MELA-AU 4 122138152 122138152 single base substitution G A upstream_gene_variant MELA-AU 4 122138180 122138180 single base substitution G A intron_variant MELA-AU 4 122138180 122138180 single base substitution G A upstream_gene_variant MELA-AU 4 122138452 122138452 single base substitution T C intron_variant MELA-AU 4 122138452 122138452 single base substitution T C upstream_gene_variant MELA-AU 4 122138712 122138712 single base substitution T G intron_variant MELA-AU 4 122138712 122138712 single base substitution T G upstream_gene_variant MELA-AU 4 122138858 122138858 single base substitution G A intron_variant MELA-AU 4 122138858 122138858 single base substitution G A upstream_gene_variant MELA-AU 4 122138900 122138900 single base substitution G A intron_variant MELA-AU 4 122138900 122138900 single base substitution G A upstream_gene_variant MELA-AU 4 122139009 122139009 single base substitution G A intron_variant MELA-AU 4 122139009 122139009 single base substitution G A upstream_gene_variant MELA-AU 4 122139672 122139672 single base substitution C T intron_variant MELA-AU 4 122139672 122139672 single base substitution C T upstream_gene_variant MELA-AU 4 122139704 122139704 single base substitution C T intron_variant MELA-AU 4 122139704 122139704 single base substitution C T upstream_gene_variant MELA-AU 4 122139712 122139712 single base substitution C T intron_variant MELA-AU 4 122139712 122139712 single base substitution C T upstream_gene_variant MELA-AU 4 122139960 122139960 single base substitution T A intron_variant MELA-AU 4 122139960 122139960 single base substitution T A upstream_gene_variant MELA-AU 4 122139987 122139987 single base substitution G A intron_variant MELA-AU 4 122139987 122139987 single base substitution G A upstream_gene_variant MELA-AU 4 122140142 122140142 single base substitution G A intron_variant MELA-AU 4 122140142 122140142 single base substitution G A upstream_gene_variant MELA-AU 4 122140150 122140150 single base substitution T C intron_variant MELA-AU 4 122140150 122140150 single base substitution T C upstream_gene_variant MELA-AU 4 122140152 122140152 single base substitution C T intron_variant MELA-AU 4 122140152 122140152 single base substitution C T upstream_gene_variant MELA-AU 4 122140155 122140155 single base substitution G A intron_variant MELA-AU 4 122140155 122140155 single base substitution G A upstream_gene_variant MELA-AU 4 122140182 122140182 single base substitution G A intron_variant MELA-AU 4 122140182 122140182 single base substitution G A upstream_gene_variant MELA-AU 4 122140569 122140569 single base substitution G A intron_variant MELA-AU 4 122140569 122140569 single base substitution G A upstream_gene_variant MELA-AU 4 122140717 122140717 single base substitution G A intron_variant MELA-AU 4 122140717 122140717 single base substitution G A upstream_gene_variant MELA-AU 4 122140868 122140868 single base substitution G A intron_variant MELA-AU 4 122140868 122140868 single base substitution G A upstream_gene_variant MELA-AU 4 122141196 122141196 single base substitution T G intron_variant MELA-AU 4 122141196 122141196 single base substitution T G upstream_gene_variant MELA-AU 4 122141520 122141520 single base substitution C G intron_variant MELA-AU 4 122141520 122141520 single base substitution C G upstream_gene_variant MELA-AU 4 122141631 122141631 single base substitution G A intron_variant MELA-AU 4 122141631 122141631 single base substitution G A upstream_gene_variant MELA-AU 4 122141858 122141858 single base substitution G A intron_variant MELA-AU 4 122141858 122141858 single base substitution G A upstream_gene_variant MELA-AU 4 122141896 122141896 single base substitution C T intron_variant MELA-AU 4 122141896 122141896 single base substitution C T upstream_gene_variant MELA-AU 4 122141974 122141974 single base substitution G T intron_variant MELA-AU 4 122141974 122141974 single base substitution G T upstream_gene_variant MELA-AU 4 122141986 122141986 single base substitution C T intron_variant MELA-AU 4 122141986 122141986 single base substitution C T upstream_gene_variant MELA-AU 4 122142167 122142167 single base substitution C T intron_variant MELA-AU 4 122142167 122142167 single base substitution C T upstream_gene_variant MELA-AU 4 122142508 122142508 single base substitution G A intron_variant MELA-AU 4 122142508 122142508 single base substitution G A upstream_gene_variant MELA-AU 4 122142955 122142955 single base substitution C T intron_variant MELA-AU 4 122142978 122142978 single base substitution C T intron_variant MELA-AU 4 122142991 122142991 single base substitution C G intron_variant MELA-AU 4 122143114 122143114 single base substitution C T intron_variant MELA-AU 4 122143319 122143319 single base substitution T C intron_variant MELA-AU 4 122143348 122143348 single base substitution C T intron_variant MELA-AU 4 122143551 122143551 single base substitution A C intron_variant MELA-AU 4 122143681 122143681 single base substitution G A intron_variant MELA-AU 4 122143706 122143706 single base substitution A T intron_variant MELA-AU 4 122143855 122143855 single base substitution G A intron_variant MELA-AU 4 122143925 122143925 single base substitution C T intron_variant MELA-AU 4 122143944 122143944 single base substitution G A intron_variant MELA-AU 4 122143945 122143945 single base substitution G A intron_variant MELA-AU 4 122144024 122144024 single base substitution G A intron_variant MELA-AU 4 122144059 122144059 single base substitution C T intron_variant MELA-AU 4 122144245 122144245 single base substitution C T intron_variant MELA-AU 4 122144439 122144439 single base substitution C T intron_variant MELA-AU 4 122144459 122144459 single base substitution G A intron_variant MELA-AU 4 122144744 122144744 single base substitution T C intron_variant MELA-AU 4 122144944 122144944 single base substitution C T intron_variant MELA-AU 4 122144959 122144959 single base substitution G A intron_variant MELA-AU 4 122145035 122145035 single base substitution A G intron_variant MELA-AU 4 122145101 122145101 single base substitution G A intron_variant MELA-AU 4 122145161 122145161 single base substitution G A intron_variant MELA-AU 4 122145550 122145550 single base substitution G A intron_variant MELA-AU 4 122145839 122145839 single base substitution G A intron_variant MELA-AU 4 122145852 122145852 single base substitution T C intron_variant MELA-AU 4 122145853 122145853 single base substitution C T intron_variant MELA-AU 4 122146015 122146015 single base substitution G A intron_variant MELA-AU 4 122146761 122146761 single base substitution C T intron_variant MELA-AU 4 122146945 122146945 single base substitution G A intron_variant MELA-AU 4 122146993 122146993 single base substitution G A intron_variant MELA-AU 4 122147189 122147189 single base substitution C T intron_variant MELA-AU 4 122147426 122147426 single base substitution G A intron_variant MELA-AU 4 122147543 122147543 single base substitution A C intron_variant MELA-AU 4 122147554 122147554 single base substitution G A intron_variant MELA-AU 4 122147708 122147708 single base substitution C T intron_variant MELA-AU 4 122147859 122147859 single base substitution A G intron_variant MELA-AU 4 122147933 122147933 single base substitution G A intron_variant MELA-AU 4 122148010 122148010 single base substitution C T intron_variant MELA-AU 4 122148098 122148098 single base substitution C T intron_variant MELA-AU 4 122148191 122148191 single base substitution G A intron_variant MELA-AU 4 122148488 122148488 single base substitution C T intron_variant MELA-AU 4 122149331 122149331 single base substitution G A upstream_gene_variant MELA-AU 4 122149535 122149535 single base substitution G A upstream_gene_variant MELA-AU 4 122149585 122149585 single base substitution G A upstream_gene_variant MELA-AU 4 122150133 122150133 single base substitution G A upstream_gene_variant MELA-AU 4 122150551 122150551 single base substitution G A upstream_gene_variant MELA-AU 4 122151212 122151212 single base substitution A G upstream_gene_variant MELA-AU 4 122151251 122151251 single base substitution G A upstream_gene_variant MELA-AU 4 122151406 122151406 single base substitution G A upstream_gene_variant MELA-AU 4 122151844 122151844 single base substitution C T upstream_gene_variant MELA-AU 4 122151878 122151878 single base substitution C T upstream_gene_variant MELA-AU 4 122151927 122151927 single base substitution G A upstream_gene_variant MELA-AU 4 122151933 122151933 single base substitution G A upstream_gene_variant MELA-AU 4 122151992 122151992 single base substitution C T upstream_gene_variant MELA-AU 4 122152059 122152059 single base substitution C T upstream_gene_variant MELA-AU 4 122152318 122152318 single base substitution G T upstream_gene_variant MELA-AU 4 122152346 122152346 single base substitution C T upstream_gene_variant MELA-AU 4 122152643 122152643 single base substitution C T upstream_gene_variant MELA-AU 4 122152699 122152699 single base substitution C T upstream_gene_variant MELA-AU 4 122152760 122152760 single base substitution G A upstream_gene_variant MELA-AU 4 122153135 122153135 single base substitution G C upstream_gene_variant MELA-AU 4 122153197 122153197 single base substitution G A upstream_gene_variant MELA-AU 4 122153409 122153409 single base substitution T C upstream_gene_variant MELA-AU 4 122153487 122153487 single base substitution G A upstream_gene_variant MELA-AU 4 122153544 122153544 single base substitution C T upstream_gene_variant ORCA-IN 4 122053451 122053451 single base substitution G A 3_prime_UTR_variant ORCA-IN 4 122053451 122053451 single base substitution G A downstream_gene_variant ORCA-IN 4 122075773 122075773 single base substitution T C exon_variant ORCA-IN 4 122075773 122075773 single base substitution T C missense_variant K142R 425A>G ORCA-IN 4 122075773 122075773 single base substitution T C missense_variant K212R 635A>G ORCA-IN 4 122075773 122075773 single base substitution T C missense_variant K219R 656A>G ORCA-IN 4 122075773 122075773 single base substitution T C upstream_gene_variant ORCA-IN 4 122076743 122076743 single base substitution G A intron_variant ORCA-IN 4 122085241 122085241 single base substitution C A exon_variant ORCA-IN 4 122085241 122085241 single base substitution C A missense_variant A14S 40G>T ORCA-IN 4 122085241 122085241 single base substitution C A missense_variant A84S 250G>T ORCA-IN 4 122085241 122085241 single base substitution C A missense_variant A91S 271G>T ORCA-IN 4 122103897 122103897 single base substitution C T 5_prime_UTR_variant ORCA-IN 4 122103897 122103897 single base substitution C T synonymous_variant A41A 123G>A ORCA-IN 4 122103897 122103897 single base substitution C T synonymous_variant A48A 144G>A ORCA-IN 4 122145591 122145591 single base substitution C T intron_variant OV-AU 4 122049756 122049756 single base substitution A T downstream_gene_variant OV-AU 4 122051610 122051610 single base substitution T C downstream_gene_variant OV-AU 4 122054885 122054885 single base substitution G T downstream_gene_variant OV-AU 4 122054885 122054885 single base substitution G T intron_variant OV-AU 4 122054954 122054954 single base substitution A G downstream_gene_variant OV-AU 4 122054954 122054954 single base substitution A G intron_variant OV-AU 4 122058582 122058582 single base substitution G T downstream_gene_variant OV-AU 4 122058582 122058582 single base substitution G T intron_variant OV-AU 4 122060213 122060213 single base substitution A T intron_variant OV-AU 4 122067329 122067329 single base substitution A T intron_variant OV-AU 4 122067329 122067329 single base substitution A T upstream_gene_variant OV-AU 4 122070364 122070364 single base substitution T A intron_variant OV-AU 4 122073214 122073214 single base substitution A T downstream_gene_variant OV-AU 4 122073214 122073214 single base substitution A T intron_variant OV-AU 4 122073214 122073214 single base substitution A T upstream_gene_variant OV-AU 4 122075958 122075958 single base substitution A T intron_variant OV-AU 4 122075958 122075958 single base substitution A T upstream_gene_variant OV-AU 4 122079507 122079507 single base substitution C G intron_variant OV-AU 4 122079507 122079507 single base substitution C G upstream_gene_variant OV-AU 4 122082014 122082014 single base substitution G C intron_variant OV-AU 4 122082014 122082014 single base substitution G C upstream_gene_variant OV-AU 4 122092687 122092687 single base substitution C T intron_variant OV-AU 4 122099846 122099846 single base substitution T A intron_variant OV-AU 4 122100802 122100802 single base substitution C A intron_variant OV-AU 4 122103153 122103153 single base substitution A T intron_variant OV-AU 4 122104155 122104155 single base substitution C G intron_variant OV-AU 4 122104313 122104313 single base substitution A C intron_variant OV-AU 4 122111841 122111841 single base substitution G T intron_variant OV-AU 4 122113471 122113471 single base substitution A G intron_variant OV-AU 4 122115430 122115430 single base substitution A G intron_variant OV-AU 4 122116604 122116604 single base substitution G A intron_variant OV-AU 4 122121066 122121066 single base substitution T G intron_variant OV-AU 4 122122646 122122646 single base substitution G T intron_variant OV-AU 4 122127092 122127092 single base substitution A T intron_variant OV-AU 4 122131831 122131831 single base substitution C G intron_variant OV-AU 4 122137316 122137316 single base substitution T G intron_variant OV-AU 4 122139632 122139632 single base substitution A G intron_variant OV-AU 4 122139632 122139632 single base substitution A G upstream_gene_variant OV-AU 4 122149928 122149928 single base substitution T C upstream_gene_variant OV-AU 4 122151380 122151380 single base substitution A T upstream_gene_variant PACA-AU 4 122047685 122047685 single base substitution C T downstream_gene_variant PACA-AU 4 122047983 122047983 single base substitution G T downstream_gene_variant PACA-AU 4 122049875 122049875 single base substitution T A downstream_gene_variant PACA-AU 4 122052541 122052541 single base substitution A G downstream_gene_variant PACA-AU 4 122055720 122055720 single base substitution C T downstream_gene_variant PACA-AU 4 122055720 122055720 single base substitution C T intron_variant PACA-AU 4 122055962 122055962 single base substitution C T downstream_gene_variant PACA-AU 4 122055962 122055962 single base substitution C T intron_variant PACA-AU 4 122056380 122056380 single base substitution C G downstream_gene_variant PACA-AU 4 122056380 122056380 single base substitution C G intron_variant PACA-AU 4 122056868 122056868 single base substitution T G downstream_gene_variant PACA-AU 4 122056868 122056868 single base substitution T G intron_variant PACA-AU 4 122057334 122057334 single base substitution G A downstream_gene_variant PACA-AU 4 122057334 122057334 single base substitution G A intron_variant PACA-AU 4 122059558 122059558 single base substitution A G intron_variant PACA-AU 4 122064339 122064339 single base substitution C A intron_variant PACA-AU 4 122064339 122064339 single base substitution C A upstream_gene_variant PACA-AU 4 122067144 122067144 single base substitution A G intron_variant PACA-AU 4 122067144 122067144 single base substitution A G upstream_gene_variant PACA-AU 4 122068287 122068287 single base substitution G A exon_variant PACA-AU 4 122068287 122068287 single base substitution G A stop_gained R218* 652C>T PACA-AU 4 122068287 122068287 single base substitution G A stop_gained R288* 862C>T PACA-AU 4 122068287 122068287 single base substitution G A stop_gained R295* 883C>T PACA-AU 4 122073899 122073899 single base substitution G A downstream_gene_variant PACA-AU 4 122073899 122073899 single base substitution G A intron_variant PACA-AU 4 122073899 122073899 single base substitution G A upstream_gene_variant PACA-AU 4 122088613 122088613 single base substitution A G intron_variant PACA-AU 4 122088613 122088613 single base substitution A G upstream_gene_variant PACA-AU 4 122092223 122092223 single base substitution G A intron_variant PACA-AU 4 122092438 122092438 single base substitution A T intron_variant PACA-AU 4 122093043 122093043 single base substitution G A intron_variant PACA-AU 4 122094025 122094025 single base substitution G T intron_variant PACA-AU 4 122095805 122095805 single base substitution T A intron_variant PACA-AU 4 122099516 122099516 single base substitution C T intron_variant PACA-AU 4 122099763 122099763 single base substitution A T intron_variant PACA-AU 4 122105662 122105662 single base substitution G T intron_variant PACA-AU 4 122109473 122109473 single base substitution A G intron_variant PACA-AU 4 122109554 122109554 single base substitution C G intron_variant PACA-AU 4 122110955 122110955 single base substitution G T intron_variant PACA-AU 4 122112884 122112884 single base substitution T A intron_variant PACA-AU 4 122113741 122113741 single base substitution A G intron_variant PACA-AU 4 122114197 122114197 single base substitution G C intron_variant PACA-AU 4 122114262 122114262 single base substitution T G intron_variant PACA-AU 4 122114915 122114915 single base substitution C A intron_variant PACA-AU 4 122115398 122115398 single base substitution G A intron_variant PACA-AU 4 122117938 122117938 single base substitution C T intron_variant PACA-AU 4 122121110 122121110 deletion of <=200bp A - intron_variant PACA-AU 4 122122551 122122551 single base substitution T G intron_variant PACA-AU 4 122123608 122123608 single base substitution T G intron_variant PACA-AU 4 122124064 122124064 deletion of <=200bp A - intron_variant PACA-AU 4 122126395 122126395 single base substitution T A intron_variant PACA-AU 4 122129512 122129512 single base substitution T C intron_variant PACA-AU 4 122130887 122130887 single base substitution G A intron_variant PACA-AU 4 122133713 122133713 single base substitution T C intron_variant PACA-AU 4 122135407 122135407 single base substitution C T intron_variant PACA-AU 4 122137329 122137329 single base substitution A T intron_variant PACA-AU 4 122137477 122137477 single base substitution A G intron_variant PACA-AU 4 122137775 122137775 single base substitution T G 5_prime_UTR_variant PACA-AU 4 122137775 122137775 single base substitution T G intron_variant PACA-AU 4 122137775 122137775 single base substitution T G upstream_gene_variant PACA-AU 4 122137896 122137896 single base substitution G A intron_variant PACA-AU 4 122137896 122137896 single base substitution G A upstream_gene_variant PACA-AU 4 122138471 122138471 single base substitution G A intron_variant PACA-AU 4 122138471 122138471 single base substitution G A upstream_gene_variant PACA-AU 4 122139106 122139106 single base substitution G T intron_variant PACA-AU 4 122139106 122139106 single base substitution G T upstream_gene_variant PACA-AU 4 122139683 122139683 single base substitution C T intron_variant PACA-AU 4 122139683 122139683 single base substitution C T upstream_gene_variant PACA-AU 4 122140267 122140267 single base substitution A G intron_variant PACA-AU 4 122140267 122140267 single base substitution A G upstream_gene_variant PACA-AU 4 122143584 122143584 single base substitution C T intron_variant PACA-AU 4 122146964 122146964 single base substitution C A intron_variant PACA-AU 4 122147530 122147530 deletion of <=200bp A - intron_variant PACA-AU 4 122150012 122150012 single base substitution C A upstream_gene_variant PACA-AU 4 122150500 122150500 single base substitution C A upstream_gene_variant PACA-AU 4 122152128 122152128 single base substitution G A upstream_gene_variant PACA-AU 4 122152178 122152178 single base substitution G T upstream_gene_variant PACA-AU 4 122152179 122152179 single base substitution G T upstream_gene_variant PACA-AU 4 122152268 122152268 single base substitution G A upstream_gene_variant PACA-AU 4 122152753 122152753 single base substitution A G upstream_gene_variant PACA-CA 4 122048616 122048616 single base substitution A G downstream_gene_variant PACA-CA 4 122051109 122051109 single base substitution C A downstream_gene_variant PACA-CA 4 122053250 122053250 single base substitution C T 3_prime_UTR_variant PACA-CA 4 122053250 122053250 single base substitution C T downstream_gene_variant PACA-CA 4 122056606 122056606 single base substitution G A downstream_gene_variant PACA-CA 4 122056606 122056606 single base substitution G A intron_variant PACA-CA 4 122056720 122056720 deletion of <=200bp T - downstream_gene_variant PACA-CA 4 122056720 122056720 deletion of <=200bp T - intron_variant PACA-CA 4 122056727 122056727 insertion of <=200bp - T downstream_gene_variant PACA-CA 4 122056727 122056727 insertion of <=200bp - T intron_variant PACA-CA 4 122056784 122056796 deletion of <=200bp GCTCAAGCAATCT - downstream_gene_variant PACA-CA 4 122056784 122056796 deletion of <=200bp GCTCAAGCAATCT - intron_variant PACA-CA 4 122061152 122061152 single base substitution T C intron_variant PACA-CA 4 122062334 122062334 single base substitution G T intron_variant PACA-CA 4 122062740 122062740 single base substitution A G intron_variant PACA-CA 4 122063434 122063434 single base substitution T C intron_variant PACA-CA 4 122063434 122063434 single base substitution T C upstream_gene_variant PACA-CA 4 122063884 122063884 single base substitution T C exon_variant PACA-CA 4 122063884 122063884 single base substitution T C synonymous_variant K261K 783A>G PACA-CA 4 122063884 122063884 single base substitution T C synonymous_variant K331K 993A>G PACA-CA 4 122063884 122063884 single base substitution T C synonymous_variant K338K 1014A>G PACA-CA 4 122063884 122063884 single base substitution T C upstream_gene_variant PACA-CA 4 122064770 122064770 single base substitution C T intron_variant PACA-CA 4 122064770 122064770 single base substitution C T upstream_gene_variant PACA-CA 4 122064920 122064920 single base substitution A G intron_variant PACA-CA 4 122064920 122064920 single base substitution A G upstream_gene_variant PACA-CA 4 122065804 122065804 single base substitution G A intron_variant PACA-CA 4 122065804 122065804 single base substitution G A upstream_gene_variant PACA-CA 4 122066993 122066993 single base substitution A C intron_variant PACA-CA 4 122066993 122066993 single base substitution A C upstream_gene_variant PACA-CA 4 122067935 122067935 single base substitution T A intron_variant PACA-CA 4 122067935 122067935 single base substitution T A upstream_gene_variant PACA-CA 4 122068096 122068096 single base substitution T A intron_variant PACA-CA 4 122068096 122068096 single base substitution T C intron_variant PACA-CA 4 122070868 122070868 single base substitution C T downstream_gene_variant PACA-CA 4 122070868 122070868 single base substitution C T intron_variant PACA-CA 4 122071692 122071692 single base substitution T C downstream_gene_variant PACA-CA 4 122071692 122071692 single base substitution T C intron_variant PACA-CA 4 122071692 122071692 single base substitution T C upstream_gene_variant PACA-CA 4 122073834 122073834 single base substitution G A downstream_gene_variant PACA-CA 4 122073834 122073834 single base substitution G A intron_variant PACA-CA 4 122073834 122073834 single base substitution G A upstream_gene_variant PACA-CA 4 122073960 122073960 single base substitution T G downstream_gene_variant PACA-CA 4 122073960 122073960 single base substitution T G intron_variant PACA-CA 4 122073960 122073960 single base substitution T G upstream_gene_variant PACA-CA 4 122074673 122074673 single base substitution G A downstream_gene_variant PACA-CA 4 122074673 122074673 single base substitution G A intron_variant PACA-CA 4 122074673 122074673 single base substitution G A upstream_gene_variant PACA-CA 4 122075021 122075021 single base substitution T G downstream_gene_variant PACA-CA 4 122075021 122075021 single base substitution T G intron_variant PACA-CA 4 122075021 122075021 single base substitution T G upstream_gene_variant PACA-CA 4 122080607 122080607 single base substitution T C intron_variant PACA-CA 4 122080607 122080607 single base substitution T C upstream_gene_variant PACA-CA 4 122081254 122081254 single base substitution G T intron_variant PACA-CA 4 122081254 122081254 single base substitution G T upstream_gene_variant PACA-CA 4 122082833 122082833 single base substitution C T intron_variant PACA-CA 4 122082833 122082833 single base substitution C T upstream_gene_variant PACA-CA 4 122083626 122083626 single base substitution C G intron_variant PACA-CA 4 122089528 122089528 insertion of <=200bp - T intron_variant PACA-CA 4 122089528 122089528 insertion of <=200bp - T upstream_gene_variant PACA-CA 4 122090196 122090196 single base substitution C A intron_variant PACA-CA 4 122090196 122090196 single base substitution C A upstream_gene_variant PACA-CA 4 122090448 122090448 single base substitution G A intron_variant PACA-CA 4 122090448 122090448 single base substitution G A upstream_gene_variant PACA-CA 4 122092010 122092010 single base substitution G A intron_variant PACA-CA 4 122092799 122092799 single base substitution A G intron_variant PACA-CA 4 122093816 122093816 single base substitution A G intron_variant PACA-CA 4 122094673 122094673 single base substitution T A intron_variant PACA-CA 4 122094674 122094674 single base substitution A T intron_variant PACA-CA 4 122097912 122097912 single base substitution G T intron_variant PACA-CA 4 122099748 122099748 single base substitution T G intron_variant PACA-CA 4 122100092 122100092 single base substitution A C intron_variant PACA-CA 4 122100322 122100322 single base substitution G T intron_variant PACA-CA 4 122100739 122100739 single base substitution G A intron_variant PACA-CA 4 122101321 122101321 single base substitution C T intron_variant PACA-CA 4 122102568 122102568 single base substitution G A intron_variant PACA-CA 4 122105830 122105830 single base substitution C T intron_variant PACA-CA 4 122107957 122107957 single base substitution A G intron_variant PACA-CA 4 122110320 122110320 single base substitution C T intron_variant PACA-CA 4 122112300 122112300 single base substitution T A intron_variant PACA-CA 4 122112768 122112768 single base substitution C G intron_variant PACA-CA 4 122113416 122113416 single base substitution A C intron_variant PACA-CA 4 122113796 122113796 deletion of <=200bp A - intron_variant PACA-CA 4 122114711 122114711 single base substitution C T intron_variant PACA-CA 4 122115400 122115400 single base substitution T C intron_variant PACA-CA 4 122117988 122117988 single base substitution G A intron_variant PACA-CA 4 122120310 122120310 insertion of <=200bp - A intron_variant PACA-CA 4 122121339 122121339 single base substitution T C intron_variant PACA-CA 4 122121589 122121589 single base substitution G A intron_variant PACA-CA 4 122123856 122123856 single base substitution G C intron_variant PACA-CA 4 122124416 122124416 insertion of <=200bp - T intron_variant PACA-CA 4 122124417 122124417 insertion of <=200bp - GAT intron_variant PACA-CA 4 122124590 122124590 single base substitution G A intron_variant PACA-CA 4 122127658 122127658 single base substitution T A intron_variant PACA-CA 4 122130046 122130046 single base substitution G A intron_variant PACA-CA 4 122132662 122132662 single base substitution A T intron_variant PACA-CA 4 122134340 122134340 single base substitution C G intron_variant PACA-CA 4 122134582 122134582 single base substitution T A intron_variant PACA-CA 4 122136061 122136061 single base substitution T C intron_variant PACA-CA 4 122136675 122136675 single base substitution T A intron_variant PACA-CA 4 122137084 122137084 insertion of <=200bp - A intron_variant PACA-CA 4 122137899 122137899 single base substitution G T intron_variant PACA-CA 4 122137899 122137899 single base substitution G T upstream_gene_variant PACA-CA 4 122138818 122138818 single base substitution C A intron_variant PACA-CA 4 122138818 122138818 single base substitution C A upstream_gene_variant PACA-CA 4 122139695 122139695 single base substitution T C intron_variant PACA-CA 4 122139695 122139695 single base substitution T C upstream_gene_variant PACA-CA 4 122140109 122140109 single base substitution C A intron_variant PACA-CA 4 122140109 122140109 single base substitution C A upstream_gene_variant PACA-CA 4 122140353 122140353 insertion of <=200bp - ACAA intron_variant PACA-CA 4 122140353 122140353 insertion of <=200bp - ACAA upstream_gene_variant PACA-CA 4 122143698 122143698 single base substitution T A intron_variant PACA-CA 4 122144964 122144964 single base substitution G C intron_variant PACA-CA 4 122147047 122147047 single base substitution A T intron_variant PACA-CA 4 122147314 122147314 insertion of <=200bp - A intron_variant PACA-CA 4 122148006 122148006 single base substitution G A intron_variant PACA-CA 4 122151051 122151051 insertion of <=200bp - C upstream_gene_variant PACA-CA 4 122151052 122151052 insertion of <=200bp - AACAAAC upstream_gene_variant PACA-CA 4 122151549 122151549 single base substitution C T upstream_gene_variant PACA-CA 4 122152897 122152897 single base substitution G T upstream_gene_variant PACA-CA 4 122152934 122152934 single base substitution C T upstream_gene_variant PACA-CA 4 122153509 122153509 single base substitution A G upstream_gene_variant PAEN-AU 4 122053920 122053920 single base substitution A T downstream_gene_variant PAEN-AU 4 122053920 122053920 single base substitution A T intron_variant PAEN-AU 4 122060833 122060833 single base substitution G T intron_variant PAEN-AU 4 122106030 122106030 single base substitution T C intron_variant PAEN-AU 4 122111418 122111418 single base substitution G C intron_variant PAEN-AU 4 122122567 122122567 single base substitution G T intron_variant PAEN-IT 4 122052826 122052826 single base substitution A G 3_prime_UTR_variant PAEN-IT 4 122052826 122052826 single base substitution A G downstream_gene_variant PAEN-IT 4 122074938 122074938 single base substitution G T downstream_gene_variant PAEN-IT 4 122074938 122074938 single base substitution G T intron_variant PAEN-IT 4 122074938 122074938 single base substitution G T upstream_gene_variant PAEN-IT 4 122077339 122077339 single base substitution G C intron_variant PAEN-IT 4 122084789 122084789 single base substitution G A intron_variant PAEN-IT 4 122101428 122101428 single base substitution G A intron_variant PBCA-DE 4 122051319 122051319 single base substitution C T downstream_gene_variant PBCA-DE 4 122056675 122056675 single base substitution C A downstream_gene_variant PBCA-DE 4 122056675 122056675 single base substitution C A intron_variant PBCA-DE 4 122062774 122062774 single base substitution G A intron_variant PBCA-DE 4 122067135 122067135 insertion of <=200bp - A intron_variant PBCA-DE 4 122067135 122067135 insertion of <=200bp - A upstream_gene_variant PBCA-DE 4 122073106 122073106 single base substitution G C downstream_gene_variant PBCA-DE 4 122073106 122073106 single base substitution G C intron_variant PBCA-DE 4 122073106 122073106 single base substitution G C upstream_gene_variant PBCA-DE 4 122075156 122075157 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 4 122075156 122075157 deletion of <=200bp AC - intron_variant PBCA-DE 4 122075156 122075157 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 4 122076160 122076160 single base substitution C T intron_variant PBCA-DE 4 122076160 122076160 single base substitution C T upstream_gene_variant PBCA-DE 4 122080877 122080877 single base substitution C A intron_variant PBCA-DE 4 122080877 122080877 single base substitution C A upstream_gene_variant PBCA-DE 4 122082377 122082377 deletion of <=200bp A - splice_region_variant PBCA-DE 4 122082377 122082377 deletion of <=200bp A - upstream_gene_variant PBCA-DE 4 122088018 122088018 single base substitution G C intron_variant PBCA-DE 4 122088018 122088018 single base substitution G C upstream_gene_variant PBCA-DE 4 122090987 122090987 single base substitution C T intron_variant PBCA-DE 4 122091335 122091335 single base substitution A G intron_variant PBCA-DE 4 122095396 122095396 single base substitution A T intron_variant PBCA-DE 4 122095587 122095587 deletion of <=200bp A - intron_variant PBCA-DE 4 122097343 122097343 single base substitution C T intron_variant PBCA-DE 4 122105281 122105281 deletion of <=200bp T - intron_variant PBCA-DE 4 122105992 122105992 single base substitution C T intron_variant PBCA-DE 4 122117390 122117390 single base substitution C A intron_variant PBCA-DE 4 122117713 122117713 deletion of <=200bp T - intron_variant PBCA-DE 4 122125179 122125179 single base substitution G A intron_variant PBCA-DE 4 122126606 122126606 single base substitution T C intron_variant PBCA-DE 4 122131366 122131366 single base substitution C A intron_variant PBCA-DE 4 122135159 122135159 single base substitution T C intron_variant PBCA-DE 4 122135896 122135896 single base substitution G A intron_variant PBCA-DE 4 122139688 122139688 single base substitution C T intron_variant PBCA-DE 4 122139688 122139688 single base substitution C T upstream_gene_variant PBCA-DE 4 122144964 122144964 single base substitution G T intron_variant PBCA-DE 4 122146043 122146043 insertion of <=200bp - A intron_variant PRAD-CA 4 122057694 122057694 single base substitution G C downstream_gene_variant PRAD-CA 4 122057694 122057694 single base substitution G C intron_variant PRAD-CA 4 122060678 122060678 single base substitution T A intron_variant PRAD-CA 4 122079860 122079860 single base substitution T G exon_variant PRAD-CA 4 122079860 122079860 single base substitution T G missense_variant K135N 405A>C PRAD-CA 4 122079860 122079860 single base substitution T G missense_variant K142N 426A>C PRAD-CA 4 122079860 122079860 single base substitution T G missense_variant K65N 195A>C PRAD-CA 4 122079860 122079860 single base substitution T G upstream_gene_variant PRAD-CA 4 122098782 122098782 single base substitution A C intron_variant PRAD-CA 4 122120052 122120052 single base substitution T A intron_variant PRAD-UK 4 122057258 122057263 deletion of <=200bp TCAGGT - downstream_gene_variant PRAD-UK 4 122057258 122057263 deletion of <=200bp TCAGGT - intron_variant PRAD-UK 4 122062348 122062348 single base substitution G A intron_variant PRAD-UK 4 122062896 122062896 single base substitution C A intron_variant PRAD-UK 4 122064316 122064316 single base substitution T C intron_variant PRAD-UK 4 122064316 122064316 single base substitution T C upstream_gene_variant PRAD-UK 4 122067302 122067302 single base substitution T C intron_variant PRAD-UK 4 122067302 122067302 single base substitution T C upstream_gene_variant PRAD-UK 4 122072036 122072036 single base substitution C T downstream_gene_variant PRAD-UK 4 122072036 122072036 single base substitution C T intron_variant PRAD-UK 4 122072036 122072036 single base substitution C T upstream_gene_variant PRAD-UK 4 122072897 122072897 single base substitution A G downstream_gene_variant PRAD-UK 4 122072897 122072897 single base substitution A G intron_variant PRAD-UK 4 122072897 122072897 single base substitution A G upstream_gene_variant PRAD-UK 4 122072918 122072918 single base substitution C T downstream_gene_variant PRAD-UK 4 122072918 122072918 single base substitution C T intron_variant PRAD-UK 4 122072918 122072918 single base substitution C T upstream_gene_variant PRAD-UK 4 122073239 122073239 single base substitution G T downstream_gene_variant PRAD-UK 4 122073239 122073239 single base substitution G T intron_variant PRAD-UK 4 122073239 122073239 single base substitution G T upstream_gene_variant PRAD-UK 4 122076432 122076432 single base substitution G T intron_variant PRAD-UK 4 122078172 122078172 single base substitution G A intron_variant PRAD-UK 4 122079575 122079575 single base substitution C T intron_variant PRAD-UK 4 122079575 122079575 single base substitution C T upstream_gene_variant PRAD-UK 4 122086843 122086843 insertion of <=200bp - CG intron_variant PRAD-UK 4 122086843 122086843 insertion of <=200bp - CG upstream_gene_variant PRAD-UK 4 122093181 122093181 single base substitution C G intron_variant PRAD-UK 4 122095853 122095853 deletion of <=200bp T - intron_variant PRAD-UK 4 122105829 122105829 single base substitution C T intron_variant PRAD-UK 4 122105831 122105831 single base substitution G A intron_variant PRAD-UK 4 122116394 122116394 single base substitution C T intron_variant PRAD-UK 4 122123586 122123586 single base substitution T G intron_variant PRAD-UK 4 122123605 122123605 single base substitution C G intron_variant PRAD-UK 4 122130921 122130921 single base substitution T A intron_variant PRAD-UK 4 122133470 122133477 deletion of <=200bp AAGCTCCT - intron_variant PRAD-UK 4 122133477 122133477 single base substitution T A intron_variant PRAD-UK 4 122141865 122141865 single base substitution C G intron_variant PRAD-UK 4 122141865 122141865 single base substitution C G upstream_gene_variant PRAD-UK 4 122142096 122142096 single base substitution G T intron_variant PRAD-UK 4 122142096 122142096 single base substitution G T upstream_gene_variant PRAD-UK 4 122143100 122143118 deletion of <=200bp AATCTAAAAAAGTTCCTGA - intron_variant PRAD-UK 4 122143966 122143966 single base substitution T C intron_variant PRAD-US 4 122063932 122063932 single base substitution C A splice_acceptor_variant PRAD-US 4 122063932 122063932 single base substitution C A upstream_gene_variant PRAD-US 4 122075727 122075727 single base substitution A G exon_variant PRAD-US 4 122075727 122075727 single base substitution A G synonymous_variant C157C 471T>C PRAD-US 4 122075727 122075727 single base substitution A G synonymous_variant C227C 681T>C PRAD-US 4 122075727 122075727 single base substitution A G synonymous_variant C234C 702T>C PRAD-US 4 122075727 122075727 single base substitution A G upstream_gene_variant READ-US 4 122063904 122063904 single base substitution T G exon_variant READ-US 4 122063904 122063904 single base substitution T G missense_variant K255Q 763A>C READ-US 4 122063904 122063904 single base substitution T G missense_variant K325Q 973A>C READ-US 4 122063904 122063904 single base substitution T G missense_variant K332Q 994A>C READ-US 4 122063904 122063904 single base substitution T G upstream_gene_variant READ-US 4 122068317 122068317 single base substitution C T exon_variant READ-US 4 122068317 122068317 single base substitution C T missense_variant E208K 622G>A READ-US 4 122068317 122068317 single base substitution C T missense_variant E278K 832G>A READ-US 4 122068317 122068317 single base substitution C T missense_variant E285K 853G>A READ-US 4 122075782 122075782 single base substitution T G exon_variant READ-US 4 122075782 122075782 single base substitution T G missense_variant K139T 416A>C READ-US 4 122075782 122075782 single base substitution T G missense_variant K209T 626A>C READ-US 4 122075782 122075782 single base substitution T G missense_variant K216T 647A>C READ-US 4 122075782 122075782 single base substitution T G upstream_gene_variant RECA-EU 4 122054768 122054768 single base substitution T A downstream_gene_variant RECA-EU 4 122054768 122054768 single base substitution T A intron_variant RECA-EU 4 122057081 122057081 single base substitution T A downstream_gene_variant RECA-EU 4 122057081 122057081 single base substitution T A intron_variant RECA-EU 4 122069691 122069691 single base substitution T A intron_variant RECA-EU 4 122074673 122074673 single base substitution G A downstream_gene_variant RECA-EU 4 122074673 122074673 single base substitution G A intron_variant RECA-EU 4 122074673 122074673 single base substitution G A upstream_gene_variant RECA-EU 4 122082369 122082369 single base substitution A G splice_region_variant RECA-EU 4 122082369 122082369 single base substitution A G upstream_gene_variant RECA-EU 4 122093407 122093407 single base substitution G T intron_variant RECA-EU 4 122096780 122096780 single base substitution T A intron_variant RECA-EU 4 122097138 122097138 single base substitution T A intron_variant RECA-EU 4 122102912 122102912 single base substitution T A intron_variant RECA-EU 4 122106869 122106869 single base substitution A T intron_variant RECA-EU 4 122115180 122115180 single base substitution G A intron_variant RECA-EU 4 122117999 122117999 single base substitution G C intron_variant RECA-EU 4 122125660 122125660 single base substitution C T intron_variant RECA-EU 4 122126586 122126586 single base substitution C T intron_variant RECA-EU 4 122129429 122129429 single base substitution A C intron_variant RECA-EU 4 122133394 122133394 single base substitution A T intron_variant RECA-EU 4 122134881 122134881 single base substitution C A intron_variant RECA-EU 4 122135219 122135219 single base substitution A C intron_variant RECA-EU 4 122137296 122137296 single base substitution C G intron_variant RECA-EU 4 122143772 122143772 single base substitution C A intron_variant RECA-EU 4 122143902 122143902 single base substitution T G intron_variant RECA-EU 4 122146938 122146938 single base substitution C T intron_variant SKCA-BR 4 122048429 122048429 single base substitution C G downstream_gene_variant SKCA-BR 4 122049267 122049267 single base substitution A G downstream_gene_variant SKCA-BR 4 122049271 122049271 single base substitution C T downstream_gene_variant SKCA-BR 4 122049732 122049732 single base substitution G A downstream_gene_variant SKCA-BR 4 122050135 122050135 single base substitution T C downstream_gene_variant SKCA-BR 4 122050928 122050928 single base substitution C T downstream_gene_variant SKCA-BR 4 122050932 122050932 single base substitution C T downstream_gene_variant SKCA-BR 4 122050933 122050933 single base substitution T G downstream_gene_variant SKCA-BR 4 122054234 122054234 single base substitution G A downstream_gene_variant SKCA-BR 4 122054234 122054234 single base substitution G A intron_variant SKCA-BR 4 122054530 122054530 single base substitution A T downstream_gene_variant SKCA-BR 4 122054530 122054530 single base substitution A T intron_variant SKCA-BR 4 122054694 122054694 single base substitution C T downstream_gene_variant SKCA-BR 4 122054694 122054694 single base substitution C T intron_variant SKCA-BR 4 122055558 122055558 single base substitution G A downstream_gene_variant SKCA-BR 4 122055558 122055558 single base substitution G A intron_variant SKCA-BR 4 122055740 122055740 single base substitution G A downstream_gene_variant SKCA-BR 4 122055740 122055740 single base substitution G A intron_variant SKCA-BR 4 122056116 122056116 single base substitution G A downstream_gene_variant SKCA-BR 4 122056116 122056116 single base substitution G A intron_variant SKCA-BR 4 122057266 122057266 single base substitution C T downstream_gene_variant SKCA-BR 4 122057266 122057266 single base substitution C T intron_variant SKCA-BR 4 122058171 122058171 single base substitution C T downstream_gene_variant SKCA-BR 4 122058171 122058171 single base substitution C T intron_variant SKCA-BR 4 122058573 122058573 single base substitution G A downstream_gene_variant SKCA-BR 4 122058573 122058573 single base substitution G A intron_variant SKCA-BR 4 122061977 122061977 single base substitution G A intron_variant SKCA-BR 4 122062249 122062249 single base substitution G A intron_variant SKCA-BR 4 122062348 122062348 single base substitution G A intron_variant SKCA-BR 4 122063907 122063907 single base substitution C T exon_variant SKCA-BR 4 122063907 122063907 single base substitution C T missense_variant E254K 760G>A SKCA-BR 4 122063907 122063907 single base substitution C T missense_variant E324K 970G>A SKCA-BR 4 122063907 122063907 single base substitution C T missense_variant E331K 991G>A SKCA-BR 4 122063907 122063907 single base substitution C T upstream_gene_variant SKCA-BR 4 122063939 122063939 single base substitution C A splice_region_variant SKCA-BR 4 122063939 122063939 single base substitution C A upstream_gene_variant SKCA-BR 4 122064622 122064622 single base substitution G A intron_variant SKCA-BR 4 122064622 122064622 single base substitution G A upstream_gene_variant SKCA-BR 4 122065971 122065971 single base substitution A T intron_variant SKCA-BR 4 122065971 122065971 single base substitution A T upstream_gene_variant SKCA-BR 4 122069961 122069961 single base substitution C T intron_variant SKCA-BR 4 122070122 122070122 single base substitution G A intron_variant SKCA-BR 4 122071060 122071060 single base substitution C T downstream_gene_variant SKCA-BR 4 122071060 122071060 single base substitution C T intron_variant SKCA-BR 4 122071275 122071275 single base substitution C T downstream_gene_variant SKCA-BR 4 122071275 122071275 single base substitution C T exon_variant SKCA-BR 4 122071275 122071275 single base substitution C T missense_variant E198K 592G>A SKCA-BR 4 122071275 122071275 single base substitution C T missense_variant E268K 802G>A SKCA-BR 4 122071275 122071275 single base substitution C T missense_variant E275K 823G>A SKCA-BR 4 122071275 122071275 single base substitution C T upstream_gene_variant SKCA-BR 4 122071766 122071766 single base substitution C T downstream_gene_variant SKCA-BR 4 122071766 122071766 single base substitution C T intron_variant SKCA-BR 4 122071766 122071766 single base substitution C T upstream_gene_variant SKCA-BR 4 122071925 122071925 single base substitution C T downstream_gene_variant SKCA-BR 4 122071925 122071925 single base substitution C T intron_variant SKCA-BR 4 122071925 122071925 single base substitution C T upstream_gene_variant SKCA-BR 4 122072856 122072856 single base substitution A C downstream_gene_variant SKCA-BR 4 122072856 122072856 single base substitution A C intron_variant SKCA-BR 4 122072856 122072856 single base substitution A C upstream_gene_variant SKCA-BR 4 122073356 122073356 single base substitution T C downstream_gene_variant SKCA-BR 4 122073356 122073356 single base substitution T C intron_variant SKCA-BR 4 122073356 122073356 single base substitution T C upstream_gene_variant SKCA-BR 4 122073872 122073872 single base substitution G A downstream_gene_variant SKCA-BR 4 122073872 122073872 single base substitution G A intron_variant SKCA-BR 4 122073872 122073872 single base substitution G A upstream_gene_variant SKCA-BR 4 122077460 122077460 single base substitution G A intron_variant SKCA-BR 4 122077461 122077461 single base substitution G A intron_variant SKCA-BR 4 122078107 122078107 single base substitution C G intron_variant SKCA-BR 4 122079368 122079368 single base substitution G A intron_variant SKCA-BR 4 122079368 122079368 single base substitution G A upstream_gene_variant SKCA-BR 4 122079369 122079369 single base substitution G T intron_variant SKCA-BR 4 122079369 122079369 single base substitution G T upstream_gene_variant SKCA-BR 4 122079716 122079716 single base substitution C T intron_variant SKCA-BR 4 122079716 122079716 single base substitution C T upstream_gene_variant SKCA-BR 4 122080910 122080910 single base substitution A T intron_variant SKCA-BR 4 122080910 122080910 single base substitution A T upstream_gene_variant SKCA-BR 4 122084028 122084028 single base substitution C T intron_variant SKCA-BR 4 122084315 122084315 single base substitution G A intron_variant SKCA-BR 4 122084680 122084680 single base substitution C T intron_variant SKCA-BR 4 122085226 122085226 single base substitution C T exon_variant SKCA-BR 4 122085226 122085226 single base substitution C T missense_variant E19K 55G>A SKCA-BR 4 122085226 122085226 single base substitution C T missense_variant E89K 265G>A SKCA-BR 4 122085226 122085226 single base substitution C T missense_variant E96K 286G>A SKCA-BR 4 122086270 122086270 single base substitution G A intron_variant SKCA-BR 4 122086270 122086270 single base substitution G A upstream_gene_variant SKCA-BR 4 122086465 122086465 single base substitution T A intron_variant SKCA-BR 4 122086465 122086465 single base substitution T A upstream_gene_variant SKCA-BR 4 122087487 122087487 single base substitution G A intron_variant SKCA-BR 4 122087487 122087487 single base substitution G A upstream_gene_variant SKCA-BR 4 122088876 122088876 single base substitution G A intron_variant SKCA-BR 4 122088876 122088876 single base substitution G A upstream_gene_variant SKCA-BR 4 122089099 122089099 single base substitution C T intron_variant SKCA-BR 4 122089099 122089099 single base substitution C T upstream_gene_variant SKCA-BR 4 122089767 122089767 single base substitution C T intron_variant SKCA-BR 4 122089767 122089767 single base substitution C T upstream_gene_variant SKCA-BR 4 122090460 122090460 single base substitution C T intron_variant SKCA-BR 4 122090460 122090460 single base substitution C T upstream_gene_variant SKCA-BR 4 122091278 122091278 single base substitution G A intron_variant SKCA-BR 4 122092816 122092816 single base substitution A G intron_variant SKCA-BR 4 122093331 122093331 single base substitution C T intron_variant SKCA-BR 4 122093835 122093835 single base substitution T G intron_variant SKCA-BR 4 122094487 122094487 single base substitution C T intron_variant SKCA-BR 4 122096240 122096240 single base substitution T C intron_variant SKCA-BR 4 122096723 122096723 single base substitution C T intron_variant SKCA-BR 4 122097114 122097114 single base substitution C T intron_variant SKCA-BR 4 122097839 122097839 single base substitution G A intron_variant SKCA-BR 4 122099570 122099570 single base substitution G A intron_variant SKCA-BR 4 122099681 122099681 single base substitution C T intron_variant SKCA-BR 4 122099766 122099766 single base substitution T A intron_variant SKCA-BR 4 122100490 122100490 single base substitution G A intron_variant SKCA-BR 4 122101851 122101851 single base substitution G A intron_variant SKCA-BR 4 122102027 122102027 single base substitution C T intron_variant SKCA-BR 4 122102241 122102241 single base substitution G A intron_variant SKCA-BR 4 122102263 122102263 single base substitution G A intron_variant SKCA-BR 4 122102779 122102779 insertion of <=200bp - GGTGTGT intron_variant SKCA-BR 4 122103239 122103239 single base substitution G A intron_variant SKCA-BR 4 122103373 122103373 single base substitution G C intron_variant SKCA-BR 4 122103838 122103838 single base substitution G A 5_prime_UTR_variant SKCA-BR 4 122103838 122103838 single base substitution G A missense_variant S61F 182C>T SKCA-BR 4 122103838 122103838 single base substitution G A missense_variant S68F 203C>T SKCA-BR 4 122104491 122104491 single base substitution C A intron_variant SKCA-BR 4 122105619 122105619 single base substitution G A intron_variant SKCA-BR 4 122106166 122106166 single base substitution C T intron_variant SKCA-BR 4 122107838 122107838 single base substitution G A intron_variant SKCA-BR 4 122107909 122107909 single base substitution G A intron_variant SKCA-BR 4 122110838 122110838 single base substitution C T intron_variant SKCA-BR 4 122115826 122115826 single base substitution A T intron_variant SKCA-BR 4 122116107 122116107 single base substitution G A intron_variant SKCA-BR 4 122118705 122118705 single base substitution G A intron_variant SKCA-BR 4 122118773 122118773 single base substitution G A intron_variant SKCA-BR 4 122119286 122119286 single base substitution G T intron_variant SKCA-BR 4 122120327 122120327 single base substitution C A intron_variant SKCA-BR 4 122121944 122121944 single base substitution A T intron_variant SKCA-BR 4 122122205 122122205 single base substitution G A intron_variant SKCA-BR 4 122126518 122126518 single base substitution G A intron_variant SKCA-BR 4 122128809 122128809 single base substitution A G intron_variant SKCA-BR 4 122129045 122129045 single base substitution C T intron_variant SKCA-BR 4 122131207 122131207 single base substitution G A intron_variant SKCA-BR 4 122131211 122131211 single base substitution C T intron_variant SKCA-BR 4 122131397 122131397 single base substitution G A intron_variant SKCA-BR 4 122131966 122131966 single base substitution G A intron_variant SKCA-BR 4 122133847 122133847 single base substitution G A intron_variant SKCA-BR 4 122134389 122134389 single base substitution C T intron_variant SKCA-BR 4 122135171 122135171 single base substitution A G intron_variant SKCA-BR 4 122135742 122135742 single base substitution C T intron_variant SKCA-BR 4 122135788 122135788 single base substitution G A intron_variant SKCA-BR 4 122136570 122136570 single base substitution A C intron_variant SKCA-BR 4 122136761 122136761 single base substitution C T intron_variant SKCA-BR 4 122139009 122139009 single base substitution G A intron_variant SKCA-BR 4 122139009 122139009 single base substitution G A upstream_gene_variant SKCA-BR 4 122139894 122139943 deletion of <=200bp TTGGGCTCAAGCAATTCCCCTCCCTCAGGATCCTGAGTAGCTGGGACTCC - intron_variant SKCA-BR 4 122139894 122139943 deletion of <=200bp TTGGGCTCAAGCAATTCCCCTCCCTCAGGATCCTGAGTAGCTGGGACTCC - upstream_gene_variant SKCA-BR 4 122140152 122140152 single base substitution C T intron_variant SKCA-BR 4 122140152 122140152 single base substitution C T upstream_gene_variant SKCA-BR 4 122140350 122140350 single base substitution C T intron_variant SKCA-BR 4 122140350 122140350 single base substitution C T upstream_gene_variant SKCA-BR 4 122140868 122140868 single base substitution G A intron_variant SKCA-BR 4 122140868 122140868 single base substitution G A upstream_gene_variant SKCA-BR 4 122141397 122141397 single base substitution G A intron_variant SKCA-BR 4 122141397 122141397 single base substitution G A upstream_gene_variant SKCA-BR 4 122142959 122142959 single base substitution G A intron_variant SKCA-BR 4 122143890 122143890 single base substitution A C intron_variant SKCA-BR 4 122143959 122143959 insertion of <=200bp - GTT intron_variant SKCA-BR 4 122144585 122144585 single base substitution C T intron_variant SKCA-BR 4 122146450 122146450 single base substitution C A intron_variant SKCA-BR 4 122147716 122147716 single base substitution C T intron_variant SKCA-BR 4 122150629 122150629 single base substitution C T upstream_gene_variant SKCA-BR 4 122151369 122151369 single base substitution C T upstream_gene_variant SKCA-BR 4 122151406 122151406 single base substitution G A upstream_gene_variant SKCA-BR 4 122151416 122151416 single base substitution G A upstream_gene_variant SKCA-BR 4 122151824 122151824 single base substitution G A upstream_gene_variant SKCM-US 4 122062995 122062995 single base substitution A T exon_variant SKCM-US 4 122062995 122062995 single base substitution A T synonymous_variant A20A 60T>A SKCM-US 4 122062995 122062995 single base substitution A T synonymous_variant A287A 861T>A SKCM-US 4 122062995 122062995 single base substitution A T synonymous_variant A357A 1071T>A SKCM-US 4 122062995 122062995 single base substitution A T synonymous_variant A364A 1092T>A SKCM-US 4 122063913 122063913 single base substitution C T exon_variant SKCM-US 4 122063913 122063913 single base substitution C T missense_variant E252K 754G>A SKCM-US 4 122063913 122063913 single base substitution C T missense_variant E322K 964G>A SKCM-US 4 122063913 122063913 single base substitution C T missense_variant E329K 985G>A SKCM-US 4 122063913 122063913 single base substitution C T upstream_gene_variant SKCM-US 4 122068286 122068286 single base substitution C T exon_variant SKCM-US 4 122068286 122068286 single base substitution C T missense_variant R218Q 653G>A SKCM-US 4 122068286 122068286 single base substitution C T missense_variant R288Q 863G>A SKCM-US 4 122068286 122068286 single base substitution C T missense_variant R295Q 884G>A SKCM-US 4 122068287 122068287 single base substitution G A exon_variant SKCM-US 4 122068287 122068287 single base substitution G A stop_gained R218* 652C>T SKCM-US 4 122068287 122068287 single base substitution G A stop_gained R288* 862C>T SKCM-US 4 122068287 122068287 single base substitution G A stop_gained R295* 883C>T SKCM-US 4 122068317 122068317 single base substitution C T exon_variant SKCM-US 4 122068317 122068317 single base substitution C T missense_variant E208K 622G>A SKCM-US 4 122068317 122068317 single base substitution C T missense_variant E278K 832G>A SKCM-US 4 122068317 122068317 single base substitution C T missense_variant E285K 853G>A SKCM-US 4 122075732 122075732 single base substitution C T exon_variant SKCM-US 4 122075732 122075732 single base substitution C T missense_variant E156K 466G>A SKCM-US 4 122075732 122075732 single base substitution C T missense_variant E226K 676G>A SKCM-US 4 122075732 122075732 single base substitution C T missense_variant E233K 697G>A SKCM-US 4 122075732 122075732 single base substitution C T upstream_gene_variant SKCM-US 4 122075770 122075770 single base substitution C T exon_variant SKCM-US 4 122075770 122075770 single base substitution C T missense_variant G143E 428G>A SKCM-US 4 122075770 122075770 single base substitution C T missense_variant G213E 638G>A SKCM-US 4 122075770 122075770 single base substitution C T missense_variant G220E 659G>A SKCM-US 4 122075770 122075770 single base substitution C T upstream_gene_variant SKCM-US 4 122082298 122082298 single base substitution C T exon_variant SKCM-US 4 122082298 122082298 single base substitution C T missense_variant R117K 350G>A SKCM-US 4 122082298 122082298 single base substitution C T missense_variant R124K 371G>A SKCM-US 4 122082298 122082298 single base substitution C T missense_variant R47K 140G>A SKCM-US 4 122082298 122082298 single base substitution C T upstream_gene_variant SKCM-US 4 122085217 122085217 single base substitution C T missense_variant E22K 64G>A SKCM-US 4 122085217 122085217 single base substitution C T missense_variant E92K 274G>A SKCM-US 4 122085217 122085217 single base substitution C T missense_variant E99K 295G>A SKCM-US 4 122085217 122085217 single base substitution C T splice_region_variant SKCM-US 4 122085294 122085294 single base substitution C T 5_prime_UTR_variant SKCM-US 4 122085294 122085294 single base substitution C T exon_variant SKCM-US 4 122085294 122085294 single base substitution C T missense_variant G66E 197G>A SKCM-US 4 122085294 122085294 single base substitution C T missense_variant G73E 218G>A STAD-US 4 122062982 122062982 single base substitution G A exon_variant STAD-US 4 122062982 122062982 single base substitution G A missense_variant R25W 73C>T STAD-US 4 122062982 122062982 single base substitution G A missense_variant R292W 874C>T STAD-US 4 122062982 122062982 single base substitution G A missense_variant R362W 1084C>T STAD-US 4 122062982 122062982 single base substitution G A missense_variant R369W 1105C>T STAD-US 4 122071373 122071373 single base substitution G A downstream_gene_variant STAD-US 4 122071373 122071373 single base substitution G A missense_variant A165V 494C>T STAD-US 4 122071373 122071373 single base substitution G A missense_variant A235V 704C>T STAD-US 4 122071373 122071373 single base substitution G A missense_variant A242V 725C>T STAD-US 4 122071373 122071373 single base substitution G A splice_region_variant STAD-US 4 122071373 122071373 single base substitution G A upstream_gene_variant STAD-US 4 122075732 122075732 single base substitution C T exon_variant STAD-US 4 122075732 122075732 single base substitution C T missense_variant E156K 466G>A STAD-US 4 122075732 122075732 single base substitution C T missense_variant E226K 676G>A STAD-US 4 122075732 122075732 single base substitution C T missense_variant E233K 697G>A STAD-US 4 122075732 122075732 single base substitution C T upstream_gene_variant STAD-US 4 122075764 122075764 deletion of <=200bp T - exon_variant STAD-US 4 122075764 122075764 deletion of <=200bp T - frameshift_variant N145 STAD-US 4 122075764 122075764 deletion of <=200bp T - frameshift_variant N215 STAD-US 4 122075764 122075764 deletion of <=200bp T - frameshift_variant N222 STAD-US 4 122075764 122075764 deletion of <=200bp T - upstream_gene_variant STAD-US 4 122075821 122075821 single base substitution C T exon_variant STAD-US 4 122075821 122075821 single base substitution C T missense_variant R126H 377G>A STAD-US 4 122075821 122075821 single base substitution C T missense_variant R196H 587G>A STAD-US 4 122075821 122075821 single base substitution C T missense_variant R203H 608G>A STAD-US 4 122075821 122075821 single base substitution C T upstream_gene_variant STAD-US 4 122078256 122078256 single base substitution C T exon_variant STAD-US 4 122078256 122078256 single base substitution C T missense_variant R119Q 356G>A STAD-US 4 122078256 122078256 single base substitution C T missense_variant R189Q 566G>A STAD-US 4 122078256 122078256 single base substitution C T missense_variant R196Q 587G>A STAD-US 4 122078294 122078294 single base substitution G A exon_variant STAD-US 4 122078294 122078294 single base substitution G A synonymous_variant D106D 318C>T STAD-US 4 122078294 122078294 single base substitution G A synonymous_variant D176D 528C>T STAD-US 4 122078294 122078294 single base substitution G A synonymous_variant D183D 549C>T THCA-SA 4 122053442 122053442 single base substitution G A 3_prime_UTR_variant THCA-SA 4 122053442 122053442 single base substitution G A downstream_gene_variant UCEC-US 4 122059836 122059836 single base substitution C A exon_variant UCEC-US 4 122059836 122059836 single base substitution C A intron_variant UCEC-US 4 122059836 122059836 single base substitution C A missense_variant D297Y 889G>T UCEC-US 4 122059836 122059836 single base substitution C A missense_variant D30Y 88G>T UCEC-US 4 122063004 122063004 single base substitution G T exon_variant UCEC-US 4 122063004 122063004 single base substitution G T synonymous_variant G17G 51C>A UCEC-US 4 122063004 122063004 single base substitution G T synonymous_variant G284G 852C>A UCEC-US 4 122063004 122063004 single base substitution G T synonymous_variant G354G 1062C>A UCEC-US 4 122063004 122063004 single base substitution G T synonymous_variant G361G 1083C>A UCEC-US 4 122068325 122068325 single base substitution T C exon_variant UCEC-US 4 122068325 122068325 single base substitution T C missense_variant Q205R 614A>G UCEC-US 4 122068325 122068325 single base substitution T C missense_variant Q275R 824A>G UCEC-US 4 122068325 122068325 single base substitution T C missense_variant Q282R 845A>G UCEC-US 4 122071316 122071316 single base substitution G T downstream_gene_variant UCEC-US 4 122071316 122071316 single base substitution G T exon_variant UCEC-US 4 122071316 122071316 single base substitution G T missense_variant S184Y 551C>A UCEC-US 4 122071316 122071316 single base substitution G T missense_variant S254Y 761C>A UCEC-US 4 122071316 122071316 single base substitution G T missense_variant S261Y 782C>A UCEC-US 4 122071316 122071316 single base substitution G T upstream_gene_variant UCEC-US 4 122071336 122071336 single base substitution G A downstream_gene_variant UCEC-US 4 122071336 122071336 single base substitution G A exon_variant UCEC-US 4 122071336 122071336 single base substitution G A synonymous_variant S177S 531C>T UCEC-US 4 122071336 122071336 single base substitution G A synonymous_variant S247S 741C>T UCEC-US 4 122071336 122071336 single base substitution G A synonymous_variant S254S 762C>T UCEC-US 4 122071336 122071336 single base substitution G A upstream_gene_variant UCEC-US 4 122071348 122071348 single base substitution C T downstream_gene_variant UCEC-US 4 122071348 122071348 single base substitution C T exon_variant UCEC-US 4 122071348 122071348 single base substitution C T synonymous_variant K173K 519G>A UCEC-US 4 122071348 122071348 single base substitution C T synonymous_variant K243K 729G>A UCEC-US 4 122071348 122071348 single base substitution C T synonymous_variant K250K 750G>A UCEC-US 4 122071348 122071348 single base substitution C T upstream_gene_variant UCEC-US 4 122075732 122075732 single base substitution C T exon_variant UCEC-US 4 122075732 122075732 single base substitution C T missense_variant E156K 466G>A UCEC-US 4 122075732 122075732 single base substitution C T missense_variant E226K 676G>A UCEC-US 4 122075732 122075732 single base substitution C T missense_variant E233K 697G>A UCEC-US 4 122075732 122075732 single base substitution C T upstream_gene_variant UCEC-US 4 122075787 122075787 single base substitution C A exon_variant UCEC-US 4 122075787 122075787 single base substitution C A missense_variant E137D 411G>T UCEC-US 4 122075787 122075787 single base substitution C A missense_variant E207D 621G>T UCEC-US 4 122075787 122075787 single base substitution C A missense_variant E214D 642G>T UCEC-US 4 122075787 122075787 single base substitution C A upstream_gene_variant UCEC-US 4 122078339 122078339 single base substitution C A exon_variant UCEC-US 4 122078339 122078339 single base substitution C A missense_variant K161N 483G>T UCEC-US 4 122078339 122078339 single base substitution C A missense_variant K168N 504G>T UCEC-US 4 122078339 122078339 single base substitution C A missense_variant K91N 273G>T UCEC-US 4 122078351 122078351 single base substitution G T exon_variant UCEC-US 4 122078351 122078351 single base substitution G T missense_variant S157R 471C>A UCEC-US 4 122078351 122078351 single base substitution G T missense_variant S164R 492C>A UCEC-US 4 122078351 122078351 single base substitution G T missense_variant S87R 261C>A UCEC-US 4 122082334 122082334 single base substitution G T exon_variant UCEC-US 4 122082334 122082334 single base substitution G T missense_variant S105Y 314C>A UCEC-US 4 122082334 122082334 single base substitution G T missense_variant S112Y 335C>A UCEC-US 4 122082334 122082334 single base substitution G T missense_variant S35Y 104C>A UCEC-US 4 122082334 122082334 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ZZUFHECRKL-G018T COSM3008290 c.965A>C p.K322T Substitution - Missense 4:121132644-121132644 - pfg136T COSM3008289 c.974C>T p.P325L Substitution - Missense 4:121132635-121132635 - TCGA-CA-5796-01 COSM5143774 c.325C>A p.Q109K Substitution - Missense 4:121157132-121157132 - TCGA-F5-6814-01 COSM3428091 c.763A>C p.K255Q Substitution - Missense 4:121142749-121142749 - TCGA-06-2563 COSM2152862 c.456G>C p.K152N Substitution - Missense 4:121154587-121154587 - PD7207a COSM5795204 c.196G>A p.E66K Substitution - Missense 4:121158704-121158704 - CSCC-37-T COSM4450433 c.609+1G>A p.? Unknown 4:121150102-121150102 - cSCCP2 COSM137412 c.712C>T p.Q238* Substitution - Nonsense 4:121147072-121147072 - TCGA-EI-6917-01 COSM1426616 c.622G>A p.E208K Substitution - Missense 4:121147162-121147162 - LUAD-F00282 COSM367361 c.633C>T p.F211F Substitution - coding silent 4:121147151-121147151 - TCGA-FW-A3R5-06 COSM1050528 c.466G>A p.E156K Substitution - Missense 4:121154577-121154577 - TCGA-A5-A0GB-01 COSM1050523 c.614A>G p.Q205R Substitution - Missense 4:121147170-121147170 - ESO-H01 COSM1268224 c.598C>T p.L200L Substitution - coding silent 4:121150114-121150114 - TCGA-28-5211-01 COSM241967 c.53C>T p.T18M Substitution - Missense 4:121164073-121164073 - SC_9059 COSM5557678 c.425A>G p.K142R Substitution - Missense 4:121154618-121154618 - GHE1438 COSM5713536 c.67-6delT p.? Unknown 4:121161222-121161222 - 587342 COSM241967 c.53C>T p.T18M Substitution - Missense 4:121164073-121164073 - S02376 COSM5697147 c.63A>T p.K21N Substitution - Missense 4:121164063-121164063 - SYN01PT2 COSM1732583 c.893A>G p.Y298C Substitution - Missense 4:121138677-121138677 - TCGA-B5-A0K9-01 COSM1050526 c.531C>T p.S177S Substitution - coding silent 4:121150181-121150181 - H166 COSM5043583 c.270G>T p.E90D Substitution - Missense 4:121157187-121157187 - TCGA-AA-3966-01 COSM273361 c.230C>T p.T77M Substitution - Missense 4:121157227-121157227 - CSCC-45-T COSM4556179 c.450G>A p.K150K Substitution - coding silent 4:121154593-121154593 - YUDEXA COSM1694930 c.142A>T p.K48* Substitution - Nonsense 4:121161141-121161141 - YUFOLD COSM1694929 c.255C>A p.F85L Substitution - Missense 4:121157202-121157202 - TCGA-G4-6628-01 COSM1426619 c.311G>T p.R104I Substitution - Missense 4:121157146-121157146 - TCGA-EE-A3JB-06 COSM4898733 c.653G>A p.R218Q Substitution - Missense 4:121147131-121147131 - TCGA-AZ-6600-01 COSM1165945 c.295A>G p.K99E Substitution - Missense 4:121157162-121157162 - TCGA-HU-A4GD-01 COSM4121680 c.494C>T p.A165V Substitution - Missense 4:121150218-121150218 - TCGA-HU-8602-01 COSM4121682 c.356G>A p.R119Q Substitution - Missense 4:121157101-121157101 - TCGA-CH-5763-01 COSM1131287 c.471T>C p.C157C Substitution - coding silent 4:121154572-121154572 - TCGA-BG-A0MC-01 COSM1050531 c.261C>A p.S87R Substitution - Missense 4:121157196-121157196 - YUPAT COSM1694927 c.644G>A p.R215Q Substitution - Missense 4:121147140-121147140 - TCGA-AP-A0LM-01 COSM1050530 c.273G>T p.K91N Substitution - Missense 4:121157184-121157184 - RK155_C01 COSM3702514 c.49T>A p.S17T Substitution - Missense 4:121164077-121164077 - CHC918T COSM3669231 c.838T>C p.W280R Substitution - Missense 4:121141863-121141863 - TCGA-DD-A113-01 COSM4925137 c.251G>T p.R84I Substitution - Missense 4:121157206-121157206 - pfg344T COSM4760787 c.173A>T p.D58V Substitution - Missense 4:121158727-121158727 - S02285 COSM5684856 c.775C>A p.Q259K Substitution - Missense 4:121142737-121142737 - TCGA-AP-A059-01 COSM1050522 c.852C>A p.G284G Substitution - coding silent 4:121141849-121141849 - TCGA-EE-A2MS-06 COSM3599614 c.428G>A p.G143E Substitution - Missense 4:121154615-121154615 - TCGA-BR-6852-01 COSM4121679 c.874C>T p.R292W Substitution - Missense 4:121141827-121141827 - C086 COSM5540604 c.385G>A p.E129K Substitution - Missense 4:121154658-121154658 - pfg127T COSM4747823 c.434delA p.N145fs*15 Deletion - Frameshift 4:121154609-121154609 - TCGA-D3-A2JO-06 COSM3599613 c.754G>A p.E252K Substitution - Missense 4:121142758-121142758 - LS174T COSM4646100 c.119T>G p.I40R Substitution - Missense 4:121161164-121161164 - YULAPE COSM1694928 c.502G>A p.D168N Substitution - Missense 4:121150210-121150210 - TCGA-B5-A0K6-01 COSM1050525 c.540T>C p.C180C Substitution - coding silent 4:121150172-121150172 - OSCC-GB_01060111 COSM4882891 c.40G>T p.A14S Substitution - Missense 4:121164086-121164086 - 804-02-4TD COSM5416548 c.621C>T p.Y207Y Substitution - coding silent 4:121147163-121147163 - HCT15 COSM3008290 c.965A>C p.K322T Substitution - Missense 4:121132644-121132644 - TCGA-EK-A2R8-01 COSM4822794 c.73G>A p.E25K Substitution - Missense 4:121161210-121161210 - YUKIL COSM1694931 c.88A>T p.K30* Substitution - Nonsense 4:121161195-121161195 - TCGA-AZ-6607-01 COSM5143285 c.786+5G>A p.? Unknown 4:121142721-121142721 - TCGA-13-0904-01 COSM79077 c.643C>T p.R215* Substitution - Nonsense 4:121147141-121147141 - TCGA-EE-A3JB-06 COSM4898580 c.64G>A p.E22K Substitution - Missense 4:121164062-121164062 - CSCC-32-T COSM4559753 c.586G>A p.E196K Substitution - Missense 4:121150126-121150126 - YUCROFT COSM228404 c.367G>A p.E123K Substitution - Missense 4:121154676-121154676 - TCGA-AG-3892-01 COSM258223 c.631T>G p.F211V Substitution - Missense 4:121147153-121147153 - 2521243 COSM5886369 c.175C>T p.Q59* Substitution - Nonsense 4:121158725-121158725 - DN14010 COSM5962413 c.220G>C p.E74Q Substitution - Missense 4:121157237-121157237 - TCGA-D5-6531-01 COSM5163238 c.434_435insA p.N145fs*14 Insertion - Frameshift 4:121154608-121154609 - TCGA-EK-A2RA-01 COSM4848176 c.571G>A p.E191K Substitution - Missense 4:121150141-121150141 - YUMOBER COSM5400383 c.641A>T p.E214V Substitution - Missense 4:121147143-121147143 - TCGA-D3-A2JK-06 COSM3599612 c.861T>A p.A287A Substitution - coding silent 4:121141840-121141840 - CSCC-62-T COSM4562890 c.717G>A p.L239L Substitution - coding silent 4:121147067-121147067 - TCGA-AA-A00N-01 COSM277751 c.444G>A p.A148A Substitution - coding silent 4:121154599-121154599 - TCGA-D9-A6EC-06 COSM1426616 c.622G>A p.E208K Substitution - Missense 4:121147162-121147162 - TCGA-WS-AB45-01 COSM5191284 c.811G>A p.G271S Substitution - Missense 4:121141890-121141890 - TCGA-D3-A3ML-06 COSM732813 c.140G>A p.R47K Substitution - Missense 4:121161143-121161143 - PDA_096 COSM5003284 c.244G>T p.A82S Substitution - Missense 4:121157213-121157213 - TCGA-AP-A0LM-01 COSM1050527 c.519G>A p.K173K Substitution - coding silent 4:121150193-121150193 - TCGA-66-2754-01 COSM732814 c.153G>T p.L51L Substitution - coding silent 4:121158747-121158747 - pfg018T COSM1642391 c.245C>T p.A82V Substitution - Missense 4:121157212-121157212 - TCGA-AP-A056-01 COSM1050528 c.466G>A p.E156K Substitution - Missense 4:121154577-121154577 - 1N31-VS-1T31 COSM4974399 c.717G>C p.L239F Substitution - Missense 4:121147067-121147067 - TCGA-AX-A05Z-01 COSM1050528 c.466G>A p.E156K Substitution - Missense 4:121154577-121154577 - CPCG0348-F1 COSM4880354 c.195A>C p.K65N Substitution - Missense 4:121158705-121158705 - TCGA-AC-A23H-01 COSM3825076 c.748C>T p.Q250* Substitution - Nonsense 4:121142764-121142764 - TCGA-HU-A4G8-01 COSM4121683 c.318C>T p.D106D Substitution - coding silent 4:121157139-121157139 - TCGA-EE-A2MJ-06 COSM3392678 c.652C>T p.R218* Substitution - Nonsense 4:121147132-121147132 - TCGA-CG-4442-01 COSM1050528 c.466G>A p.E156K Substitution - Missense 4:121154577-121154577 - CPCG_0184_Pr_P_P1 COSM3008314 c.231G>C p.T77T Substitution - coding silent 4:121157226-121157226 - S00022 COSM316046 c.726G>A p.L242L Substitution - coding silent 4:121147058-121147058 - TCGA-AA-3663-01 COSM1426617 c.482G>A p.R161H Substitution - Missense 4:121154561-121154561 - TCGA-66-2782-01 COSM732815 c.647C>T p.S216L Substitution - Missense 4:121147137-121147137 - A3 COSM5351038 c.44A>G p.E15G Substitution - Missense 4:121164082-121164082 - sysucc-311T COSM5466038 c.40G>A p.A14T Substitution - Missense 4:121164086-121164086 - TCGA-LP-A4AW-01 COSM4829646 c.147G>T p.E49D Substitution - Missense 4:121161136-121161136 - T578 COSM4734941 c.29G>A p.R10K Substitution - Missense 4:121164097-121164097 - ML_89_T_01 COSM5037922 c.55G>A p.E19K Substitution - Missense 4:121164071-121164071 - YULAN COSM1694926 c.946G>A p.G316S Substitution - Missense 4:121138624-121138624 - TCGA-CA-6717-01 COSM1426620 c.117G>T p.K39N Substitution - Missense 4:121161166-121161166 - ME043T COSM228404 c.367G>A p.E123K Substitution - Missense 4:121154676-121154676 - 2521260 COSM5891377 c.559G>A p.E187K Substitution - Missense 4:121150153-121150153 - TCGA-AN-A046-01 COSM3825078 c.29G>T p.R10I Substitution - Missense 4:121164097-121164097 - ESCC_BICR_028T COSM5431872 c.574_576delGAG p.E192delE Deletion - In frame 4:121150136-121150138 - CSCC-44-T COSM4512571 c.907C>T p.L303F Substitution - Missense 4:121138663-121138663 - BD166T COSM5494633 c.66+9A>T p.? Unknown 4:121164051-121164051 - OSCC-GB_01170111 COSM5557678 c.425A>G p.K142R Substitution - Missense 4:121154618-121154618 - TCGA-D8-A1XT-01 COSM1485632 c.231G>A p.T77T Substitution - coding silent 4:121157226-121157226 - STC252 COSM5060087 c.240C>T p.D80D Substitution - coding silent 4:121157217-121157217 - TCGA-AA-A022-01 COSM5124795 c.493-8T>C p.? Unknown 4:121150227-121150227 - TCGA-AZ-4315-01 COSM1426611 c.978G>T p.*326Y Nonstop extension 4:121132631-121132631 - TCGA-BR-4370-01 COSM4121681 c.377G>A p.R126H Substitution - Missense 4:121154666-121154666 - pfg008T COSM1131287 c.471T>C p.C157C Substitution - coding silent 4:121154572-121154572 - 875-01-3TD COSM5417684 c.326_327ins18 p.Q109_R110insERTTGR Insertion - In frame 4:121157130-121157131 - B10-Tumor COSM1165945 c.295A>G p.K99E Substitution - Missense 4:121157162-121157162 - 783-01-11TD COSM5416493 c.736-8G>T p.? Unknown 4:121142784-121142784 - T96 COSM241967 c.53C>T p.T18M Substitution - Missense 4:121164073-121164073 - TCGA-AX-A0J0-01 COSM1050529 c.411G>T p.E137D Substitution - Missense 4:121154632-121154632 - S00022 COSM316046 c.726G>A p.L242L Substitution - coding silent 4:121147058-121147058 - TCGA-F5-6814-01 COSM3428092 c.416A>C p.K139T Substitution - Missense 4:121154627-121154627 - 8035746 COSM3392678 c.652C>T p.R218* Substitution - Nonsense 4:121147132-121147132 - 255 COSM3731729 c.270G>A p.E90E Substitution - coding silent 4:121157187-121157187 - HCT8 COSM3008290 c.965A>C p.K322T Substitution - Missense 4:121132644-121132644 - TCGA-GM-A3XL-01 COSM3825077 c.494C>G p.A165G Substitution - Missense 4:121150218-121150218 - PT25 COSM228404 c.367G>A p.E123K Substitution - Missense 4:121154676-121154676 - STC297 COSM5060088 c.187A>G p.S63G Substitution - Missense 4:121158713-121158713 - YUPTER COSM5037922 c.55G>A p.E19K Substitution - Missense 4:121164071-121164071 - TCGA-AP-A059-01 COSM1050521 c.889G>T p.D297Y Substitution - Missense 4:121138681-121138681 - PCSI_0476_Pa_P_526 COSM3008297 c.783A>G p.K261K Substitution - coding silent 4:121142729-121142729 - TCGA-66-2785-01 COSM732813 c.140G>A p.R47K Substitution - Missense 4:121161143-121161143 - HCA7 COSM4612169 c.542delT p.L181fs*1 Deletion - Frameshift 4:121150170-121150170 - TCGA-EE-A29M-06 COSM1426616 c.622G>A p.E208K Substitution - Missense 4:121147162-121147162 - CAL27 COSM4603349 c.328_329ins18 p.R110>QRGRQAG Complex - insertion inframe 4:121157128-121157129 - TCGA-GM-A3XL-01 COSM3825075 c.919C>T p.P307S Substitution - Missense 4:121138651-121138651 - TCGA-BS-A0UV-01 COSM1050524 c.551C>A p.S184Y Substitution - Missense 4:121150161-121150161 - ME049T COSM230042 c.301G>A p.D101N Substitution - Missense 4:121157156-121157156 - TCGA-06-2563-01 COSM2152862 c.456G>C p.K152N Substitution - Missense 4:121154587-121154587 - YUGATOR COSM5400384 c.451G>A p.E151K Substitution - Missense 4:121154592-121154592 - DLD1 COSM3008290 c.965A>C p.K322T Substitution - Missense 4:121132644-121132644 - TCGA-BS-A0UV-01 COSM1050532 c.104C>A p.S35Y Substitution - Missense 4:121161179-121161179 - PT37 COSM228404 c.367G>A p.E123K Substitution - Missense 4:121154676-121154676 - TCGA-CH-5765-01 COSM1131288 c.736-1G>T p.? Unknown 4:121142777-121142777 - TCGA-D5-7000-01 COSM1426613 c.963G>C p.K321N Substitution - Missense 4:121132646-121132646 - TCGA-CA-6717-01 COSM1426616 c.622G>A p.E208K Substitution - Missense 4:121147162-121147162 - TCGA-BC-A10U-01 COSM4942404 c.22A>G p.T8A Substitution - Missense 4:121164104-121164104 - SE4 COSM1165945 c.295A>G p.K99E Substitution - Missense 4:121157162-121157162 - C0049T COSM4422622 c.69T>C p.C23C Substitution - coding silent 4:121161214-121161214 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.208125;Hs.208128;Hs.208134;Hs.208143;Hs.208145;Hs.208148;Hs.208190;Hs.208206 4q27 608019

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.975+781T>C 4 122053008 HC A G IntronicSNV . c.610-323T>C 4 122068652 CLL A G Synonymous p.C157C c.471T>C 4 122075727 STAD A T IntronicSNV . c.1-24147T>A 4 122109427 PIA A T Synonymous p.A287A c.861T>A 4 122062995 CM C A IntronicSNV . c.1-285G>T 4 122085565 CLL C A Nonsense p.E156* c.466G>T 4 122075732 CM C A SpliceAcceptorSNV . c.736-1G>T 4 122063932 PRAD C A Synonymous p.L51L c.153G>T 4 122079902 LUSC C A Synonymous p.P307P c.921G>T 4 122059804 CM CC AA MultiAAMissense p.K150_E151delinsN* c.450_451delinsTT 4 122075747 HNSC C G IntronicSNV . c.492+22G>C 4 122075684 CM C G Missense p.K152N c.456G>C 4 122075742 GBM C T IntronicSNV . c.1-10194G>A 4 122095474 CLL C T Missense p.D101N c.301G>A 4 122078311 CM C T Missense p.E123K c.367G>A 4 122075831 CM C T Missense p.E208K c.622G>A 4 122068317 CM C T Missense p.E22K c.64G>A 4 122085217 CM C T Missense p.E252K c.754G>A 4 122063913 CM C T Missense p.G143E c.428G>A 4 122075770 CM C T Missense p.G271S c.811G>A 4 122063045 CM C T Missense p.R126H c.377G>A 4 122075821 STAD C T Missense p.R218Q c.653G>A 4 122068286 CM C T Missense p.R47K c.140G>A 4 122082298 CM C T Synonymous p.L242L c.726G>A 4 122068213 SCLC C T Synonymous p.Q103Q c.309G>A 4 122078303 HNSC C T Synonymous p.T77T c.231G>A 4 122078381 BRCA G A Missense p.A82V c.245C>T 4 122078367 STAD G A Missense p.R292W c.874C>T 4 122062982 STAD G A Missense p.S216L c.647C>T 4 122068292 LUSC G A Missense p.T18M c.53C>T 4 122085228 GBM G A Missense p.T88M c.263C>T 4 122078349 STAD G A Nonsense p.Q299* c.895C>T 4 122059830 CM G A Nonsense p.R215* c.643C>T 4 122068296 OV G A Nonsense p.R218* c.652C>T 4 122068287 CM G A Synonymous p.L200L c.598C>T 4 122071269 ESCA G A Synonymous p.S177S c.531C>T 4 122071336 UCEC G C Synonymous p.T113T c.339C>G 4 122078273 CM G T Missense p.H275N c.823C>A 4 122063033 LUAD G T Missense p.P267H c.800C>A 4 122063056 HNSC G T Missense p.S87R c.261C>A 4 122078351 UCEC G T Nonsense p.C265* c.795C>A 4 122063061 LUAD T C Missense p.Q205R c.614A>G 4 122068325 UCEC T C Synonymous p.R218R c.654A>G 4 122068285 HNSC T G 3-UTRSNV . c.975+24A>C 4 122053765 ESCA