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 CESC 5 81549226 81549226 + Silent SNP T T C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr5:81549226T>C c.645T>C c.(643-645)gaT>gaC p.D215D CHOL 5 81549163 81549163 + Missense_Mutation SNP C C A TCGA-ZH-A8Y2-01A-11D-A417-09 TCGA-ZH-A8Y2-10A-01D-A41A-09 g.chr5:81549163C>A c.582C>A c.(580-582)agC>agA p.S194R COAD 5 81474350 81474350 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:81474350C>A c.397C>A c.(397-399)Cat>Aat p.H133N COAD 5 81474358 81474358 + Nonsense_Mutation SNP C C A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr5:81474358C>A c.405C>A c.(403-405)tgC>tgA p.C135* COAD 5 81548405 81548405 + Frame_Shift_Del DEL T T - TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr5:81548405delT c.478delT c.(478-480)tttfs p.F161fs COAD 5 81548405 81548405 + Frame_Shift_Del DEL T T - TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr5:81548405delT c.478delT c.(478-480)tttfs p.F161fs COAD 5 81548428 81548428 + Silent SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr5:81548428G>A c.501G>A c.(499-501)aaG>aaA p.K167K COADREAD 5 81283461 81283461 + Missense_Mutation SNP A A T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr5:81283461A>T c.72A>T c.(70-72)caA>caT p.Q24H COADREAD 5 81474350 81474350 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:81474350C>A c.397C>A c.(397-399)Cat>Aat p.H133N COADREAD 5 81474358 81474358 + Nonsense_Mutation SNP C C A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr5:81474358C>A c.405C>A c.(403-405)tgC>tgA p.C135* COADREAD 5 81548405 81548405 + Frame_Shift_Del DEL T T - TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr5:81548405delT c.478delT c.(478-480)tttfs p.F161fs COADREAD 5 81548405 81548405 + Frame_Shift_Del DEL T T - TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr5:81548405delT c.478delT c.(478-480)tttfs p.F161fs COADREAD 5 81548428 81548428 + Silent SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr5:81548428G>A c.501G>A c.(499-501)aaG>aaA p.K167K HNSC 5 81549160 81549160 + Silent SNP G G C TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 g.chr5:81549160G>C c.579G>C c.(577-579)ctG>ctC p.L193L LIHC 5 81474399 81474399 + Missense_Mutation SNP C C T TCGA-DD-A4NV-01A-11D-A30V-10 TCGA-DD-A4NV-10A-01D-A30V-10 g.chr5:81474399C>T c.446C>T c.(445-447)aCg>aTg p.T149M LIHC 5 81548458 81548458 + Missense_Mutation SNP G G T TCGA-BW-A5NO-01A-11D-A27I-10 TCGA-BW-A5NO-10A-01D-A27I-10 g.chr5:81548458G>T c.531G>T c.(529-531)aaG>aaT p.K177N LUAD 5 81460256 81460256 + Missense_Mutation SNP T T G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 g.chr5:81460256T>G c.255T>G c.(253-255)atT>atG p.I85M LUAD 5 81474313 81474313 + Silent SNP G G C TCGA-86-A456-01A-11D-A24D-08 TCGA-86-A456-10A-01D-A24F-08 g.chr5:81474313G>C c.360G>C c.(358-360)ggG>ggC p.G120G LUSC 5 81549141 81549141 + Missense_Mutation SNP A A G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 g.chr5:81549141A>G c.560A>G c.(559-561)aAc>aGc p.N187S PAAD 5 81474399 81474399 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 g.chr5:81474399C>T c.446C>T c.(445-447)aCg>aTg p.T149M PRAD 5 81354375 81354375 + Nonsense_Mutation SNP C C G TCGA-G9-6362-01A-11D-1786-08 TCGA-G9-6362-10A-01D-1786-08 g.chr5:81354375C>G c.170C>G c.(169-171)tCa>tGa p.S57* PRAD 5 81548458 81548458 + Silent SNP G G A TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 g.chr5:81548458G>A c.531G>A c.(529-531)aaG>aaA p.K177K READ 5 81283461 81283461 + Missense_Mutation SNP A A T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr5:81283461A>T c.72A>T c.(70-72)caA>caT p.Q24H SKCM 5 81549195 81549195 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr5:81549195C>T c.614C>T c.(613-615)cCt>cTt p.P205L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 5 81362529 81362529 single base substitution G A intron_variant BOCA-FR 5 81391792 81391792 single base substitution G A intron_variant BOCA-FR 5 81394720 81394720 single base substitution A T intron_variant BOCA-FR 5 81459460 81459460 single base substitution A G intron_variant BOCA-FR 5 81459460 81459460 single base substitution A G upstream_gene_variant BOCA-FR 5 81558533 81558533 single base substitution A C intron_variant BRCA-EU 5 81263451 81263451 single base substitution T C upstream_gene_variant BRCA-EU 5 81263511 81263511 single base substitution C G upstream_gene_variant BRCA-EU 5 81264500 81264500 single base substitution C G upstream_gene_variant BRCA-EU 5 81265539 81265539 single base substitution C G upstream_gene_variant BRCA-EU 5 81266419 81266419 insertion of <=200bp - T upstream_gene_variant BRCA-EU 5 81266545 81266545 single base substitution C T upstream_gene_variant BRCA-EU 5 81266917 81266917 single base substitution C T upstream_gene_variant BRCA-EU 5 81266990 81266990 single base substitution C G upstream_gene_variant BRCA-EU 5 81267557 81267557 single base substitution C T upstream_gene_variant BRCA-EU 5 81272436 81272436 single base substitution C G intron_variant BRCA-EU 5 81272436 81272436 single base substitution C T intron_variant BRCA-EU 5 81275048 81275048 deletion of <=200bp A - intron_variant BRCA-EU 5 81275121 81275121 single base substitution C T intron_variant BRCA-EU 5 81276200 81276200 single base substitution T C intron_variant BRCA-EU 5 81278946 81278946 single base substitution C T intron_variant BRCA-EU 5 81278946 81278946 single base substitution C T upstream_gene_variant BRCA-EU 5 81279051 81279051 single base substitution C A intron_variant BRCA-EU 5 81279051 81279051 single base substitution C A upstream_gene_variant BRCA-EU 5 81279601 81279601 single base substitution C T intron_variant BRCA-EU 5 81279601 81279601 single base substitution C T upstream_gene_variant BRCA-EU 5 81279848 81279848 single base substitution G A intron_variant BRCA-EU 5 81279848 81279848 single base substitution G A upstream_gene_variant BRCA-EU 5 81280049 81280049 single base substitution G A intron_variant BRCA-EU 5 81280049 81280049 single base substitution G A upstream_gene_variant BRCA-EU 5 81280064 81280064 single base substitution C T intron_variant BRCA-EU 5 81280064 81280064 single base substitution C T upstream_gene_variant BRCA-EU 5 81280820 81280820 single base substitution A G intron_variant BRCA-EU 5 81280820 81280820 single base substitution A G upstream_gene_variant BRCA-EU 5 81281568 81281568 single base substitution G A intron_variant BRCA-EU 5 81281568 81281568 single base substitution G A upstream_gene_variant BRCA-EU 5 81282763 81282763 single base substitution G A intron_variant BRCA-EU 5 81282763 81282763 single base substitution G A upstream_gene_variant BRCA-EU 5 81282791 81282791 single base substitution G C intron_variant BRCA-EU 5 81282791 81282791 single base substitution G C upstream_gene_variant BRCA-EU 5 81282848 81282848 single base substitution C T intron_variant BRCA-EU 5 81282848 81282848 single base substitution C T upstream_gene_variant BRCA-EU 5 81282944 81282944 single base substitution C A intron_variant BRCA-EU 5 81282944 81282944 single base substitution C A upstream_gene_variant BRCA-EU 5 81285553 81285553 single base substitution G A downstream_gene_variant BRCA-EU 5 81285553 81285553 single base substitution G A intron_variant BRCA-EU 5 81285630 81285630 single base substitution C G downstream_gene_variant BRCA-EU 5 81285630 81285630 single base substitution C G intron_variant BRCA-EU 5 81287306 81287306 single base substitution C A downstream_gene_variant BRCA-EU 5 81287306 81287306 single base substitution C A intron_variant BRCA-EU 5 81289108 81289108 single base substitution C A intron_variant BRCA-EU 5 81289233 81289233 insertion of <=200bp - TTTTCTTTTCTTTTCTT intron_variant BRCA-EU 5 81289364 81289364 single base substitution C G intron_variant BRCA-EU 5 81289466 81289466 single base substitution C G intron_variant BRCA-EU 5 81290654 81290654 single base substitution C T intron_variant BRCA-EU 5 81292880 81292880 single base substitution C T intron_variant BRCA-EU 5 81292964 81292964 single base substitution A G intron_variant BRCA-EU 5 81297383 81297383 single base substitution C T intron_variant BRCA-EU 5 81298033 81298033 single base substitution G C intron_variant BRCA-EU 5 81298282 81298282 deletion of <=200bp A - intron_variant BRCA-EU 5 81300666 81300666 single base substitution G C intron_variant BRCA-EU 5 81300919 81300919 single base substitution A G intron_variant BRCA-EU 5 81301727 81301727 single base substitution C G intron_variant BRCA-EU 5 81303506 81303506 single base substitution C G intron_variant BRCA-EU 5 81304691 81304691 single base substitution A G intron_variant BRCA-EU 5 81305029 81305029 deletion of <=200bp T - intron_variant BRCA-EU 5 81307021 81307021 insertion of <=200bp - T intron_variant BRCA-EU 5 81307975 81307975 single base substitution C T intron_variant BRCA-EU 5 81309189 81309189 single base substitution C G intron_variant BRCA-EU 5 81309609 81309609 single base substitution A G intron_variant BRCA-EU 5 81312692 81312692 single base substitution G T intron_variant BRCA-EU 5 81316668 81316668 single base substitution G A intron_variant BRCA-EU 5 81316900 81316900 deletion of <=200bp T - intron_variant BRCA-EU 5 81318019 81318019 single base substitution A G intron_variant BRCA-EU 5 81319115 81319115 deletion of <=200bp T - intron_variant BRCA-EU 5 81319155 81319155 single base substitution C T intron_variant BRCA-EU 5 81319756 81319756 single base substitution C G intron_variant BRCA-EU 5 81322443 81322443 single base substitution A C intron_variant BRCA-EU 5 81324611 81324611 single base substitution A G intron_variant BRCA-EU 5 81326409 81326409 single base substitution A G intron_variant BRCA-EU 5 81326979 81326979 single base substitution C T intron_variant BRCA-EU 5 81327017 81327017 single base substitution C G intron_variant BRCA-EU 5 81328742 81328742 single base substitution G A intron_variant BRCA-EU 5 81329897 81329898 deletion of <=200bp TA - intron_variant BRCA-EU 5 81330697 81330697 single base substitution T C intron_variant BRCA-EU 5 81336231 81336231 single base substitution C T intron_variant BRCA-EU 5 81337501 81337501 single base substitution C G intron_variant BRCA-EU 5 81337590 81337590 single base substitution C T intron_variant BRCA-EU 5 81337977 81337977 single base substitution C G intron_variant BRCA-EU 5 81338066 81338066 insertion of <=200bp - GA intron_variant BRCA-EU 5 81339289 81339289 single base substitution C G intron_variant BRCA-EU 5 81339579 81339579 single base substitution A T intron_variant BRCA-EU 5 81340091 81340091 single base substitution T G intron_variant BRCA-EU 5 81340435 81340435 single base substitution T G intron_variant BRCA-EU 5 81342046 81342046 single base substitution G A intron_variant BRCA-EU 5 81343423 81343423 single base substitution T C intron_variant BRCA-EU 5 81344184 81344184 single base substitution C A intron_variant BRCA-EU 5 81344547 81344547 single base substitution A T intron_variant BRCA-EU 5 81344962 81344962 single base substitution C G intron_variant BRCA-EU 5 81345010 81345010 single base substitution A G intron_variant BRCA-EU 5 81345389 81345391 deletion of <=200bp AAG - intron_variant BRCA-EU 5 81348420 81348420 single base substitution C G intron_variant BRCA-EU 5 81348476 81348476 single base substitution C G intron_variant BRCA-EU 5 81350530 81350530 single base substitution C T intron_variant BRCA-EU 5 81352090 81352090 single base substitution C A intron_variant BRCA-EU 5 81352475 81352475 single base substitution C T intron_variant BRCA-EU 5 81353932 81353932 single base substitution C T intron_variant BRCA-EU 5 81355051 81355051 single base substitution C T intron_variant BRCA-EU 5 81355223 81355223 single base substitution A T intron_variant BRCA-EU 5 81355303 81355303 single base substitution C G intron_variant BRCA-EU 5 81356603 81356603 single base substitution C A intron_variant BRCA-EU 5 81356674 81356674 single base substitution A G intron_variant BRCA-EU 5 81361494 81361494 single base substitution C G intron_variant BRCA-EU 5 81363434 81363434 single base substitution A T intron_variant BRCA-EU 5 81366082 81366082 single base substitution C G intron_variant BRCA-EU 5 81366094 81366094 single base substitution A G intron_variant BRCA-EU 5 81366378 81366378 single base substitution T C intron_variant BRCA-EU 5 81369630 81369630 single base substitution C G intron_variant BRCA-EU 5 81370577 81370577 single base substitution C T intron_variant BRCA-EU 5 81370675 81370675 single base substitution C A intron_variant BRCA-EU 5 81371821 81371821 single base substitution C G intron_variant BRCA-EU 5 81372324 81372324 single base substitution C T intron_variant BRCA-EU 5 81372938 81372938 single base substitution C T intron_variant BRCA-EU 5 81377003 81377003 single base substitution C T intron_variant BRCA-EU 5 81378456 81378456 single base substitution C G intron_variant BRCA-EU 5 81378759 81378759 single base substitution G A intron_variant BRCA-EU 5 81378801 81378801 single base substitution C G intron_variant BRCA-EU 5 81379882 81379882 single base substitution C G intron_variant BRCA-EU 5 81380446 81380446 single base substitution G A intron_variant BRCA-EU 5 81380978 81380978 insertion of <=200bp - A intron_variant BRCA-EU 5 81381522 81381522 single base substitution C T intron_variant BRCA-EU 5 81381652 81381652 single base substitution C A intron_variant BRCA-EU 5 81384550 81384550 single base substitution C G intron_variant BRCA-EU 5 81384707 81384707 single base substitution C G intron_variant BRCA-EU 5 81385368 81385368 single base substitution G T intron_variant BRCA-EU 5 81385598 81385598 single base substitution C T intron_variant BRCA-EU 5 81385691 81385691 single base substitution T C intron_variant BRCA-EU 5 81387199 81387199 insertion of <=200bp - T intron_variant BRCA-EU 5 81387345 81387345 single base substitution C G intron_variant BRCA-EU 5 81387409 81387409 single base substitution C G intron_variant BRCA-EU 5 81388182 81388182 single base substitution G T intron_variant BRCA-EU 5 81391330 81391330 single base substitution A G intron_variant BRCA-EU 5 81394534 81394534 single base substitution G A intron_variant BRCA-EU 5 81395078 81395078 single base substitution G C intron_variant BRCA-EU 5 81396006 81396006 single base substitution T C intron_variant BRCA-EU 5 81396105 81396105 single base substitution C T intron_variant BRCA-EU 5 81396524 81396524 single base substitution G C intron_variant BRCA-EU 5 81396664 81396664 single base substitution G A intron_variant BRCA-EU 5 81396865 81396865 single base substitution G C intron_variant BRCA-EU 5 81398128 81398128 single base substitution C G intron_variant BRCA-EU 5 81399896 81399896 single base substitution A T intron_variant BRCA-EU 5 81404344 81404344 single base substitution G T intron_variant BRCA-EU 5 81404344 81404344 single base substitution G T upstream_gene_variant BRCA-EU 5 81404602 81404602 single base substitution C G intron_variant BRCA-EU 5 81404602 81404602 single base substitution C G upstream_gene_variant BRCA-EU 5 81405365 81405365 single base substitution G A intron_variant BRCA-EU 5 81405365 81405365 single base substitution G A upstream_gene_variant BRCA-EU 5 81405383 81405383 single base substitution C A intron_variant BRCA-EU 5 81405383 81405383 single base substitution C A upstream_gene_variant BRCA-EU 5 81405635 81405635 single base substitution A T intron_variant BRCA-EU 5 81405635 81405635 single base substitution A T upstream_gene_variant BRCA-EU 5 81408881 81408881 single base substitution T A intron_variant BRCA-EU 5 81409070 81409070 single base substitution G A intron_variant BRCA-EU 5 81411082 81411082 single base substitution G A intron_variant BRCA-EU 5 81413276 81413276 single base substitution G A intron_variant BRCA-EU 5 81413277 81413277 single base substitution A T intron_variant BRCA-EU 5 81413325 81413325 single base substitution C T intron_variant BRCA-EU 5 81413646 81413646 single base substitution T C intron_variant BRCA-EU 5 81414444 81414444 single base substitution G A intron_variant BRCA-EU 5 81416385 81416385 single base substitution A G intron_variant BRCA-EU 5 81417092 81417092 single base substitution G A intron_variant BRCA-EU 5 81417455 81417455 single base substitution C T intron_variant BRCA-EU 5 81421702 81421702 single base substitution G A intron_variant BRCA-EU 5 81425163 81425163 single base substitution C G intron_variant BRCA-EU 5 81426132 81426132 single base substitution T C intron_variant BRCA-EU 5 81426311 81426311 single base substitution C T intron_variant BRCA-EU 5 81427284 81427284 single base substitution C T intron_variant BRCA-EU 5 81429583 81429583 single base substitution G A intron_variant BRCA-EU 5 81431752 81431752 single base substitution T G intron_variant BRCA-EU 5 81431847 81431847 single base substitution C G intron_variant BRCA-EU 5 81432342 81432346 deletion of <=200bp TTCTT - intron_variant BRCA-EU 5 81432906 81432906 single base substitution C T intron_variant BRCA-EU 5 81434218 81434218 single base substitution G A intron_variant BRCA-EU 5 81435830 81435830 single base substitution A T intron_variant BRCA-EU 5 81438170 81438170 single base substitution C T intron_variant BRCA-EU 5 81438659 81438659 single base substitution A T intron_variant BRCA-EU 5 81438809 81438809 single base substitution C G intron_variant BRCA-EU 5 81439098 81439098 single base substitution C T intron_variant BRCA-EU 5 81442999 81442999 single base substitution C A intron_variant BRCA-EU 5 81445388 81445388 single base substitution C T downstream_gene_variant BRCA-EU 5 81445388 81445388 single base substitution C T intron_variant BRCA-EU 5 81448670 81448670 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 81448670 81448670 deletion of <=200bp A - intron_variant BRCA-EU 5 81448782 81448782 single base substitution C G downstream_gene_variant BRCA-EU 5 81448782 81448782 single base substitution C G intron_variant BRCA-EU 5 81450283 81450283 single base substitution C G intron_variant BRCA-EU 5 81450596 81450596 single base substitution G C intron_variant BRCA-EU 5 81451536 81451536 single base substitution C T intron_variant BRCA-EU 5 81451892 81451892 single base substitution A G intron_variant BRCA-EU 5 81452009 81452009 single base substitution C G intron_variant BRCA-EU 5 81452460 81452460 single base substitution C T intron_variant BRCA-EU 5 81455445 81455445 single base substitution C G intron_variant BRCA-EU 5 81455445 81455445 single base substitution C G upstream_gene_variant BRCA-EU 5 81455989 81455989 single base substitution T A intron_variant BRCA-EU 5 81455989 81455989 single base substitution T A upstream_gene_variant BRCA-EU 5 81456020 81456020 single base substitution C G intron_variant BRCA-EU 5 81456020 81456020 single base substitution C G upstream_gene_variant BRCA-EU 5 81456717 81456717 single base substitution A G intron_variant BRCA-EU 5 81456717 81456717 single base substitution A G upstream_gene_variant BRCA-EU 5 81457809 81457809 single base substitution C G intron_variant BRCA-EU 5 81457809 81457809 single base substitution C G upstream_gene_variant BRCA-EU 5 81457953 81457953 single base substitution C T intron_variant BRCA-EU 5 81457953 81457953 single base substitution C T upstream_gene_variant BRCA-EU 5 81458486 81458486 deletion of <=200bp A - intron_variant BRCA-EU 5 81458486 81458486 deletion of <=200bp A - upstream_gene_variant BRCA-EU 5 81459954 81459954 deletion of <=200bp T - intron_variant BRCA-EU 5 81459954 81459954 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 81460208 81460208 deletion of <=200bp T - intron_variant BRCA-EU 5 81460208 81460208 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 81462149 81462149 insertion of <=200bp - C intron_variant BRCA-EU 5 81462431 81462431 deletion of <=200bp C - intron_variant BRCA-EU 5 81463077 81463077 single base substitution C G intron_variant BRCA-EU 5 81463900 81463900 deletion of <=200bp T - intron_variant BRCA-EU 5 81465785 81465785 single base substitution C T intron_variant BRCA-EU 5 81466218 81466218 single base substitution T G intron_variant BRCA-EU 5 81466610 81466610 deletion of <=200bp A - intron_variant BRCA-EU 5 81469437 81469437 single base substitution T C intron_variant BRCA-EU 5 81469840 81469840 single base substitution T G intron_variant BRCA-EU 5 81471406 81471406 deletion of <=200bp T - intron_variant BRCA-EU 5 81471406 81471406 insertion of <=200bp - T intron_variant BRCA-EU 5 81473634 81473634 single base substitution G A intron_variant BRCA-EU 5 81474184 81474184 single base substitution T G intron_variant BRCA-EU 5 81474834 81474834 single base substitution G A intron_variant BRCA-EU 5 81475360 81475360 insertion of <=200bp - A intron_variant BRCA-EU 5 81475628 81475628 deletion of <=200bp T - intron_variant BRCA-EU 5 81476037 81476037 single base substitution C T intron_variant BRCA-EU 5 81476052 81476052 single base substitution C G intron_variant BRCA-EU 5 81476545 81476545 single base substitution C G intron_variant BRCA-EU 5 81479146 81479146 deletion of <=200bp T - intron_variant BRCA-EU 5 81480694 81480694 single base substitution G A intron_variant BRCA-EU 5 81481461 81481461 insertion of <=200bp - A intron_variant BRCA-EU 5 81482068 81482068 single base substitution G C intron_variant BRCA-EU 5 81482585 81482585 single base substitution G C intron_variant BRCA-EU 5 81482963 81482963 deletion of <=200bp A - intron_variant BRCA-EU 5 81483026 81483026 deletion of <=200bp A - intron_variant BRCA-EU 5 81484890 81484890 insertion of <=200bp - T intron_variant BRCA-EU 5 81485452 81485452 insertion of <=200bp - T intron_variant BRCA-EU 5 81485559 81485559 single base substitution C T intron_variant BRCA-EU 5 81485808 81485808 single base substitution C G intron_variant BRCA-EU 5 81486423 81486423 single base substitution C T intron_variant BRCA-EU 5 81487282 81487282 single base substitution G A intron_variant BRCA-EU 5 81488376 81488376 single base substitution T C intron_variant BRCA-EU 5 81489831 81489832 deletion of <=200bp TG - intron_variant BRCA-EU 5 81490197 81490197 single base substitution G C intron_variant BRCA-EU 5 81491002 81491002 single base substitution C A intron_variant BRCA-EU 5 81491398 81491398 single base substitution T C intron_variant BRCA-EU 5 81491404 81491404 single base substitution C G intron_variant BRCA-EU 5 81495044 81495044 single base substitution G A intron_variant BRCA-EU 5 81495393 81495393 single base substitution T C intron_variant BRCA-EU 5 81496085 81496085 single base substitution C T intron_variant BRCA-EU 5 81496811 81496811 single base substitution C T intron_variant BRCA-EU 5 81499206 81499206 single base substitution G T intron_variant BRCA-EU 5 81499363 81499363 single base substitution G C intron_variant BRCA-EU 5 81500528 81500528 single base substitution C A intron_variant BRCA-EU 5 81501664 81501664 single base substitution T C intron_variant BRCA-EU 5 81502283 81502283 single base substitution G A intron_variant BRCA-EU 5 81503303 81503303 insertion of <=200bp - T intron_variant BRCA-EU 5 81504163 81504163 single base substitution G A intron_variant BRCA-EU 5 81505079 81505079 deletion of <=200bp T - intron_variant BRCA-EU 5 81507060 81507060 single base substitution A G intron_variant BRCA-EU 5 81507227 81507227 single base substitution C G intron_variant BRCA-EU 5 81508906 81508906 single base substitution C G intron_variant BRCA-EU 5 81510457 81510457 single base substitution C G intron_variant BRCA-EU 5 81511587 81511587 single base substitution C G intron_variant BRCA-EU 5 81514812 81514812 single base substitution A G intron_variant BRCA-EU 5 81515218 81515218 single base substitution T A intron_variant BRCA-EU 5 81515979 81515979 single base substitution G A intron_variant BRCA-EU 5 81516457 81516457 single base substitution T C intron_variant BRCA-EU 5 81517969 81517969 single base substitution T A intron_variant BRCA-EU 5 81518980 81518980 single base substitution G A intron_variant BRCA-EU 5 81519637 81519637 single base substitution A G intron_variant BRCA-EU 5 81519673 81519673 single base substitution T C intron_variant BRCA-EU 5 81521584 81521584 single base substitution G A intron_variant BRCA-EU 5 81523172 81523172 insertion of <=200bp - AT intron_variant BRCA-EU 5 81523488 81523488 single base substitution C T intron_variant BRCA-EU 5 81524381 81524381 single base substitution A G intron_variant BRCA-EU 5 81524789 81524789 single base substitution G A intron_variant BRCA-EU 5 81525901 81525901 single base substitution C G intron_variant BRCA-EU 5 81528119 81528119 single base substitution A C intron_variant BRCA-EU 5 81528565 81528565 single base substitution C T intron_variant BRCA-EU 5 81529692 81529692 single base substitution G A intron_variant BRCA-EU 5 81530078 81530078 single base substitution T G intron_variant BRCA-EU 5 81532338 81532338 single base substitution T A intron_variant BRCA-EU 5 81532829 81532829 single base substitution T C intron_variant BRCA-EU 5 81532893 81532893 single base substitution T C intron_variant BRCA-EU 5 81533132 81533132 single base substitution G A intron_variant BRCA-EU 5 81535439 81535439 single base substitution A G intron_variant BRCA-EU 5 81535624 81535624 single base substitution C G intron_variant BRCA-EU 5 81537485 81537485 single base substitution T C intron_variant BRCA-EU 5 81539848 81539848 single base substitution C T intron_variant BRCA-EU 5 81541564 81541564 single base substitution C G intron_variant BRCA-EU 5 81543212 81543212 single base substitution C G intron_variant BRCA-EU 5 81543523 81543523 single base substitution C T intron_variant BRCA-EU 5 81543670 81543670 deletion of <=200bp T - intron_variant BRCA-EU 5 81545372 81545372 single base substitution T C intron_variant BRCA-EU 5 81545946 81545946 single base substitution C G intron_variant BRCA-EU 5 81546002 81546002 single base substitution A T intron_variant BRCA-EU 5 81547376 81547376 single base substitution C T intron_variant BRCA-EU 5 81548205 81548205 single base substitution C A intron_variant BRCA-EU 5 81550928 81550928 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 81550928 81550928 single base substitution C T downstream_gene_variant BRCA-EU 5 81550928 81550928 single base substitution C T intron_variant BRCA-EU 5 81552239 81552239 single base substitution T C downstream_gene_variant BRCA-EU 5 81552239 81552239 single base substitution T C intron_variant BRCA-EU 5 81552377 81552377 single base substitution C T downstream_gene_variant BRCA-EU 5 81552377 81552377 single base substitution C T intron_variant BRCA-EU 5 81554450 81554450 single base substitution G A downstream_gene_variant BRCA-EU 5 81554450 81554450 single base substitution G A intron_variant BRCA-EU 5 81555120 81555120 single base substitution C A downstream_gene_variant BRCA-EU 5 81555120 81555120 single base substitution C A intron_variant BRCA-EU 5 81555299 81555299 single base substitution C T downstream_gene_variant BRCA-EU 5 81555299 81555299 single base substitution C T intron_variant BRCA-EU 5 81556720 81556720 single base substitution C G downstream_gene_variant BRCA-EU 5 81556720 81556720 single base substitution C G intron_variant BRCA-EU 5 81558339 81558339 insertion of <=200bp - T intron_variant BRCA-EU 5 81559292 81559292 single base substitution A G intron_variant BRCA-EU 5 81560182 81560182 deletion of <=200bp A - intron_variant BRCA-EU 5 81560622 81560622 single base substitution C G intron_variant BRCA-EU 5 81561007 81561007 insertion of <=200bp - A intron_variant BRCA-EU 5 81561610 81561610 single base substitution C G intron_variant BRCA-EU 5 81564207 81564207 insertion of <=200bp - T intron_variant BRCA-EU 5 81565587 81565587 single base substitution G A intron_variant BRCA-EU 5 81565646 81565646 single base substitution C T intron_variant BRCA-EU 5 81567920 81567920 single base substitution G T intron_variant BRCA-EU 5 81568132 81568132 single base substitution A T intron_variant BRCA-EU 5 81568644 81568644 single base substitution G A intron_variant BRCA-EU 5 81569373 81569373 single base substitution C T intron_variant BRCA-EU 5 81570361 81570361 single base substitution C A intron_variant BRCA-EU 5 81570821 81570821 single base substitution T C intron_variant BRCA-EU 5 81570975 81570975 single base substitution C T intron_variant BRCA-EU 5 81573111 81573111 single base substitution G A downstream_gene_variant BRCA-EU 5 81573785 81573785 single base substitution T G downstream_gene_variant BRCA-EU 5 81574560 81574560 single base substitution G T downstream_gene_variant BRCA-EU 5 81575251 81575251 single base substitution A T downstream_gene_variant BRCA-EU 5 81575923 81575923 single base substitution A T downstream_gene_variant BRCA-EU 5 81577533 81577533 single base substitution C T downstream_gene_variant BRCA-FR 5 81263511 81263511 single base substitution C G upstream_gene_variant BRCA-FR 5 81275121 81275121 single base substitution C T intron_variant BRCA-FR 5 81275619 81275619 single base substitution T A intron_variant BRCA-FR 5 81276200 81276200 single base substitution T C intron_variant BRCA-FR 5 81289364 81289364 single base substitution C G intron_variant BRCA-FR 5 81289466 81289466 single base substitution C G intron_variant BRCA-FR 5 81300666 81300666 single base substitution G C intron_variant BRCA-FR 5 81322443 81322443 single base substitution A C intron_variant BRCA-FR 5 81325803 81325803 single base substitution C T intron_variant BRCA-FR 5 81326979 81326979 single base substitution C T intron_variant BRCA-FR 5 81337590 81337590 single base substitution C T intron_variant BRCA-FR 5 81337977 81337977 single base substitution C G intron_variant BRCA-FR 5 81353932 81353932 single base substitution C T intron_variant BRCA-FR 5 81355303 81355303 single base substitution C G intron_variant BRCA-FR 5 81366944 81366944 single base substitution G A intron_variant BRCA-FR 5 81368608 81368608 single base substitution C G intron_variant BRCA-FR 5 81369630 81369630 single base substitution C G intron_variant BRCA-FR 5 81370675 81370675 single base substitution C A intron_variant BRCA-FR 5 81371821 81371821 single base substitution C G intron_variant BRCA-FR 5 81378456 81378456 single base substitution C G intron_variant BRCA-FR 5 81381522 81381522 single base substitution C T intron_variant BRCA-FR 5 81382976 81382976 single base substitution C G intron_variant BRCA-FR 5 81384550 81384550 single base substitution C G intron_variant BRCA-FR 5 81404602 81404602 single base substitution C G intron_variant BRCA-FR 5 81404602 81404602 single base substitution C G upstream_gene_variant BRCA-FR 5 81414725 81414725 single base substitution C A intron_variant BRCA-FR 5 81418772 81418772 single base substitution C G intron_variant BRCA-FR 5 81423635 81423635 single base substitution G A intron_variant BRCA-FR 5 81427676 81427676 single base substitution C T intron_variant BRCA-FR 5 81428292 81428292 single base substitution C T intron_variant BRCA-FR 5 81447425 81447425 single base substitution C T downstream_gene_variant BRCA-FR 5 81447425 81447425 single base substitution C T intron_variant BRCA-FR 5 81476037 81476037 single base substitution C T intron_variant BRCA-FR 5 81493034 81493034 single base substitution C G intron_variant BRCA-FR 5 81496085 81496085 single base substitution C T intron_variant BRCA-FR 5 81514345 81514345 single base substitution C T intron_variant BRCA-FR 5 81515218 81515218 single base substitution T A intron_variant BRCA-FR 5 81541355 81541355 single base substitution T C intron_variant BRCA-FR 5 81541564 81541564 single base substitution C G intron_variant BRCA-FR 5 81552315 81552315 single base substitution T G downstream_gene_variant BRCA-FR 5 81552315 81552315 single base substitution T G intron_variant BRCA-FR 5 81559292 81559292 single base substitution A G intron_variant BRCA-FR 5 81560622 81560622 single base substitution C G intron_variant BRCA-FR 5 81567920 81567920 single base substitution G T intron_variant BRCA-FR 5 81570361 81570361 single base substitution C A intron_variant BRCA-FR 5 81570975 81570975 single base substitution C T intron_variant BRCA-FR 5 81577533 81577533 single base substitution C T downstream_gene_variant BRCA-KR 5 81574029 81574029 single base substitution A C downstream_gene_variant BRCA-UK 5 81319756 81319756 single base substitution C G intron_variant BRCA-UK 5 81330815 81330815 single base substitution C G intron_variant BRCA-UK 5 81330972 81330972 single base substitution C T intron_variant BRCA-UK 5 81345010 81345010 single base substitution A G intron_variant BRCA-UK 5 81385691 81385691 single base substitution T C intron_variant BRCA-UK 5 81392131 81392131 single base substitution C G intron_variant BRCA-UK 5 81413325 81413325 single base substitution C T intron_variant BRCA-UK 5 81415754 81415754 single base substitution G T intron_variant BRCA-UK 5 81421702 81421702 single base substitution G A intron_variant BRCA-UK 5 81456020 81456020 single base substitution C G intron_variant BRCA-UK 5 81456020 81456020 single base substitution C G upstream_gene_variant BRCA-UK 5 81498599 81498599 single base substitution C G intron_variant BRCA-UK 5 81521452 81521452 single base substitution C T intron_variant BRCA-UK 5 81557720 81557720 single base substitution G A intron_variant BTCA-JP 5 81574384 81574384 single base substitution C T downstream_gene_variant CESC-US 5 81549226 81549226 single base substitution T C 3_prime_UTR_variant CESC-US 5 81549226 81549226 single base substitution T C downstream_gene_variant CESC-US 5 81549226 81549226 single base substitution T C intron_variant CESC-US 5 81549226 81549226 single base substitution T C synonymous_variant D215D 645T>C CESC-US 5 81573526 81573526 single base substitution G A downstream_gene_variant CESC-US 5 81573540 81573540 single base substitution G A downstream_gene_variant CLLE-ES 5 81264884 81264884 single base substitution T C upstream_gene_variant CLLE-ES 5 81289231 81289231 single base substitution T C intron_variant CLLE-ES 5 81296839 81296839 single base substitution T A intron_variant CLLE-ES 5 81303084 81303084 single base substitution A G intron_variant CLLE-ES 5 81312072 81312072 single base substitution G A intron_variant CLLE-ES 5 81317471 81317471 single base substitution G T intron_variant CLLE-ES 5 81320684 81320684 single base substitution G A intron_variant CLLE-ES 5 81336289 81336289 single base substitution A G intron_variant CLLE-ES 5 81339072 81339072 single base substitution C T intron_variant CLLE-ES 5 81353477 81353477 single base substitution A G intron_variant CLLE-ES 5 81408144 81408144 single base substitution A T intron_variant CLLE-ES 5 81412936 81412936 single base substitution A G intron_variant CLLE-ES 5 81453964 81453964 single base substitution A G intron_variant CLLE-ES 5 81487219 81487219 single base substitution A G intron_variant CLLE-ES 5 81494766 81494766 deletion of <=200bp C - intron_variant CLLE-ES 5 81505968 81505968 single base substitution C T intron_variant CLLE-ES 5 81506480 81506480 single base substitution A G intron_variant CLLE-ES 5 81529354 81529354 single base substitution C T intron_variant CLLE-ES 5 81540215 81540215 single base substitution A T intron_variant CLLE-ES 5 81572314 81572314 single base substitution T C downstream_gene_variant CLLE-ES 5 81572314 81572314 single base substitution T C exon_variant COAD-US 5 81474358 81474358 single base substitution C A exon_variant COAD-US 5 81474358 81474358 single base substitution C A stop_gained C135* 405C>A COAD-US 5 81548405 81548405 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 5 81548405 81548405 deletion of <=200bp T - exon_variant COAD-US 5 81548405 81548405 deletion of <=200bp T - frameshift_variant F160 COAD-US 5 81548405 81548405 deletion of <=200bp T - intron_variant COAD-US 5 81548428 81548428 single base substitution G A 3_prime_UTR_variant COAD-US 5 81548428 81548428 single base substitution G A exon_variant COAD-US 5 81548428 81548428 single base substitution G A intron_variant COAD-US 5 81548428 81548428 single base substitution G A synonymous_variant K167K 501G>A COAD-US 5 81572042 81572042 single base substitution A G exon_variant COCA-CN 5 81284256 81284256 single base substitution C T downstream_gene_variant COCA-CN 5 81284256 81284256 single base substitution C T intron_variant COCA-CN 5 81284441 81284441 single base substitution C T downstream_gene_variant COCA-CN 5 81284441 81284441 single base substitution C T intron_variant COCA-CN 5 81289186 81289186 single base substitution T C intron_variant COCA-CN 5 81305420 81305420 single base substitution C T intron_variant COCA-CN 5 81338861 81338861 single base substitution T C intron_variant COCA-CN 5 81338871 81338871 single base substitution C T intron_variant COCA-CN 5 81338879 81338879 single base substitution G A intron_variant COCA-CN 5 81373389 81373389 single base substitution A T intron_variant COCA-CN 5 81378984 81378984 single base substitution G A intron_variant COCA-CN 5 81402163 81402163 single base substitution A T intron_variant COCA-CN 5 81435228 81435228 single base substitution C G intron_variant COCA-CN 5 81460369 81460369 single base substitution C A intron_variant COCA-CN 5 81471705 81471705 single base substitution C T intron_variant COCA-CN 5 81474547 81474547 single base substitution C T intron_variant COCA-CN 5 81496235 81496235 single base substitution C T intron_variant COCA-CN 5 81518025 81518025 single base substitution T C intron_variant COCA-CN 5 81522185 81522185 single base substitution C T intron_variant COCA-CN 5 81546347 81546347 single base substitution T C intron_variant COCA-CN 5 81549057 81549057 single base substitution C T downstream_gene_variant COCA-CN 5 81549057 81549057 single base substitution C T intron_variant COCA-CN 5 81559557 81559557 single base substitution C T intron_variant COCA-CN 5 81559561 81559561 single base substitution C T intron_variant COCA-CN 5 81568644 81568644 single base substitution G A intron_variant COCA-CN 5 81570377 81570377 single base substitution G C intron_variant EOPC-DE 5 81280524 81280524 single base substitution G T intron_variant EOPC-DE 5 81280524 81280524 single base substitution G T upstream_gene_variant EOPC-DE 5 81299881 81299881 single base substitution G T intron_variant EOPC-DE 5 81333701 81333701 single base substitution G A intron_variant EOPC-DE 5 81345544 81345544 single base substitution C A intron_variant EOPC-DE 5 81420167 81420167 single base substitution G A intron_variant EOPC-DE 5 81461423 81461423 single base substitution A G intron_variant EOPC-DE 5 81477406 81477406 single base substitution A G intron_variant EOPC-DE 5 81498185 81498185 single base substitution C A intron_variant EOPC-DE 5 81506019 81506019 single base substitution T A intron_variant EOPC-DE 5 81506904 81506904 single base substitution C T intron_variant ESAD-UK 5 81263296 81263296 single base substitution C T upstream_gene_variant ESAD-UK 5 81264516 81264516 single base substitution A G upstream_gene_variant ESAD-UK 5 81265168 81265168 single base substitution G A upstream_gene_variant ESAD-UK 5 81266419 81266419 insertion of <=200bp - T upstream_gene_variant ESAD-UK 5 81273191 81273191 single base substitution A G intron_variant ESAD-UK 5 81274048 81274048 single base substitution C T intron_variant ESAD-UK 5 81277802 81277802 single base substitution G C intron_variant ESAD-UK 5 81279290 81279290 single base substitution C G intron_variant ESAD-UK 5 81279290 81279290 single base substitution C G upstream_gene_variant ESAD-UK 5 81283038 81283038 single base substitution C T intron_variant ESAD-UK 5 81283038 81283038 single base substitution C T upstream_gene_variant ESAD-UK 5 81284369 81284369 single base substitution C G downstream_gene_variant ESAD-UK 5 81284369 81284369 single base substitution C G intron_variant ESAD-UK 5 81285077 81285077 single base substitution C G downstream_gene_variant ESAD-UK 5 81285077 81285077 single base substitution C G intron_variant ESAD-UK 5 81285960 81285960 single base substitution A G downstream_gene_variant ESAD-UK 5 81285960 81285960 single base substitution A G intron_variant ESAD-UK 5 81286910 81286910 single base substitution G T downstream_gene_variant ESAD-UK 5 81286910 81286910 single base substitution G T intron_variant ESAD-UK 5 81287326 81287326 insertion of <=200bp - T downstream_gene_variant ESAD-UK 5 81287326 81287326 insertion of <=200bp - T intron_variant ESAD-UK 5 81291182 81291182 single base substitution G A intron_variant ESAD-UK 5 81291459 81291459 single base substitution G A intron_variant ESAD-UK 5 81291678 81291678 single base substitution A C intron_variant ESAD-UK 5 81294305 81294305 single base substitution G T intron_variant ESAD-UK 5 81294786 81294786 single base substitution T C intron_variant ESAD-UK 5 81300111 81300111 single base substitution G A intron_variant ESAD-UK 5 81301472 81301472 single base substitution T C intron_variant ESAD-UK 5 81302235 81302235 single base substitution C T intron_variant ESAD-UK 5 81306326 81306329 deletion of <=200bp TTAA - intron_variant ESAD-UK 5 81306331 81306331 single base substitution T G intron_variant ESAD-UK 5 81308287 81308287 insertion of <=200bp - T intron_variant ESAD-UK 5 81311354 81311354 single base substitution C G intron_variant ESAD-UK 5 81312036 81312036 single base substitution G C intron_variant ESAD-UK 5 81312348 81312348 single base substitution T G intron_variant ESAD-UK 5 81312655 81312655 single base substitution C T intron_variant ESAD-UK 5 81312710 81312710 single base substitution C A intron_variant ESAD-UK 5 81313087 81313087 single base substitution C T intron_variant ESAD-UK 5 81313273 81313273 single base substitution G A intron_variant ESAD-UK 5 81314083 81314083 single base substitution T A intron_variant ESAD-UK 5 81314400 81314400 single base substitution T G intron_variant ESAD-UK 5 81315531 81315531 single base substitution G C intron_variant ESAD-UK 5 81316012 81316012 single base substitution C T intron_variant ESAD-UK 5 81316334 81316334 single base substitution T G intron_variant ESAD-UK 5 81320663 81320663 single base substitution G A intron_variant ESAD-UK 5 81320668 81320668 single base substitution T A intron_variant ESAD-UK 5 81322297 81322297 single base substitution T A intron_variant ESAD-UK 5 81323411 81323411 single base substitution G T intron_variant ESAD-UK 5 81326391 81326391 single base substitution C A intron_variant ESAD-UK 5 81327384 81327384 single base substitution C T intron_variant ESAD-UK 5 81329137 81329137 single base substitution T C intron_variant ESAD-UK 5 81329610 81329610 single base substitution C T intron_variant ESAD-UK 5 81330937 81330937 single base substitution G T intron_variant ESAD-UK 5 81334462 81334462 single base substitution C G intron_variant ESAD-UK 5 81334840 81334840 single base substitution A T intron_variant ESAD-UK 5 81335765 81335765 single base substitution C T intron_variant ESAD-UK 5 81335796 81335796 single base substitution T G intron_variant ESAD-UK 5 81336219 81336219 single base substitution A C intron_variant ESAD-UK 5 81336386 81336386 single base substitution T G intron_variant ESAD-UK 5 81337453 81337453 single base substitution T G intron_variant ESAD-UK 5 81337769 81337769 single base substitution T A intron_variant ESAD-UK 5 81337770 81337770 single base substitution A T intron_variant ESAD-UK 5 81339038 81339038 single base substitution T C intron_variant ESAD-UK 5 81339510 81339510 single base substitution T G intron_variant ESAD-UK 5 81342437 81342437 single base substitution T C intron_variant ESAD-UK 5 81342514 81342514 single base substitution C T intron_variant ESAD-UK 5 81347094 81347094 single base substitution C T intron_variant ESAD-UK 5 81348129 81348129 single base substitution G A intron_variant ESAD-UK 5 81351024 81351024 single base substitution A T intron_variant ESAD-UK 5 81351109 81351109 single base substitution T G intron_variant ESAD-UK 5 81353587 81353587 single base substitution C T intron_variant ESAD-UK 5 81354176 81354176 single base substitution C G intron_variant ESAD-UK 5 81354898 81354898 single base substitution T A intron_variant ESAD-UK 5 81356674 81356674 single base substitution A G intron_variant ESAD-UK 5 81358329 81358329 single base substitution T G intron_variant ESAD-UK 5 81358419 81358419 single base substitution T C intron_variant ESAD-UK 5 81359704 81359704 single base substitution T C intron_variant ESAD-UK 5 81359806 81359806 single base substitution A C intron_variant ESAD-UK 5 81360856 81360856 single base substitution G T intron_variant ESAD-UK 5 81361797 81361797 insertion of <=200bp - T intron_variant ESAD-UK 5 81362608 81362608 single base substitution G C intron_variant ESAD-UK 5 81365679 81365679 single base substitution A T intron_variant ESAD-UK 5 81366125 81366125 single base substitution A G intron_variant ESAD-UK 5 81366471 81366471 single base substitution C G intron_variant ESAD-UK 5 81366773 81366773 single base substitution G A intron_variant ESAD-UK 5 81369535 81369535 single base substitution G A intron_variant ESAD-UK 5 81372005 81372005 single base substitution G A intron_variant ESAD-UK 5 81374410 81374410 single base substitution T G intron_variant ESAD-UK 5 81374417 81374417 single base substitution A C intron_variant ESAD-UK 5 81374790 81374790 single base substitution T G intron_variant ESAD-UK 5 81374958 81374958 single base substitution T G intron_variant ESAD-UK 5 81376799 81376799 single base substitution C T intron_variant ESAD-UK 5 81377873 81377873 single base substitution A C intron_variant ESAD-UK 5 81379035 81379035 single base substitution C T intron_variant ESAD-UK 5 81379491 81379491 single base substitution C A intron_variant ESAD-UK 5 81381321 81381321 single base substitution G C intron_variant ESAD-UK 5 81381913 81381913 single base substitution A T intron_variant ESAD-UK 5 81384605 81384605 single base substitution G T intron_variant ESAD-UK 5 81385024 81385024 single base substitution G A intron_variant ESAD-UK 5 81387960 81387960 single base substitution A T intron_variant ESAD-UK 5 81389210 81389210 single base substitution T C intron_variant ESAD-UK 5 81389686 81389686 single base substitution C T intron_variant ESAD-UK 5 81393034 81393034 single base substitution C T intron_variant ESAD-UK 5 81393157 81393157 single base substitution A G intron_variant ESAD-UK 5 81393839 81393839 single base substitution T G intron_variant ESAD-UK 5 81394495 81394495 single base substitution C A intron_variant ESAD-UK 5 81396323 81396323 single base substitution T G intron_variant ESAD-UK 5 81397371 81397371 single base substitution A G intron_variant ESAD-UK 5 81399965 81399965 single base substitution G C intron_variant ESAD-UK 5 81400895 81400895 single base substitution A G intron_variant ESAD-UK 5 81400898 81400898 single base substitution C T intron_variant ESAD-UK 5 81401177 81401177 single base substitution C T intron_variant ESAD-UK 5 81401683 81401683 single base substitution T C intron_variant ESAD-UK 5 81402546 81402546 single base substitution T G intron_variant ESAD-UK 5 81402546 81402546 single base substitution T G upstream_gene_variant ESAD-UK 5 81403569 81403569 single base substitution C T intron_variant ESAD-UK 5 81403569 81403569 single base substitution C T upstream_gene_variant ESAD-UK 5 81405395 81405395 insertion of <=200bp - T intron_variant ESAD-UK 5 81405395 81405395 insertion of <=200bp - T upstream_gene_variant ESAD-UK 5 81407378 81407378 single base substitution T G intron_variant ESAD-UK 5 81407636 81407636 insertion of <=200bp - A intron_variant ESAD-UK 5 81409124 81409124 single base substitution G C intron_variant ESAD-UK 5 81409435 81409435 single base substitution C G intron_variant ESAD-UK 5 81411246 81411246 single base substitution T G intron_variant ESAD-UK 5 81412416 81412416 single base substitution G A intron_variant ESAD-UK 5 81412895 81412895 single base substitution A G intron_variant ESAD-UK 5 81413285 81413285 single base substitution T G intron_variant ESAD-UK 5 81415242 81415242 single base substitution A G intron_variant ESAD-UK 5 81416392 81416392 single base substitution A T intron_variant ESAD-UK 5 81417938 81417938 single base substitution C A intron_variant ESAD-UK 5 81419400 81419400 single base substitution G T intron_variant ESAD-UK 5 81419868 81419868 single base substitution G C intron_variant ESAD-UK 5 81419993 81419993 single base substitution T G intron_variant ESAD-UK 5 81423872 81423872 single base substitution T C intron_variant ESAD-UK 5 81424006 81424006 single base substitution C T intron_variant ESAD-UK 5 81424747 81424747 single base substitution T C intron_variant ESAD-UK 5 81425248 81425248 deletion of <=200bp T - intron_variant ESAD-UK 5 81426101 81426101 single base substitution C T intron_variant ESAD-UK 5 81426212 81426212 single base substitution A T intron_variant ESAD-UK 5 81427818 81427818 single base substitution A C intron_variant ESAD-UK 5 81428202 81428202 single base substitution C T intron_variant ESAD-UK 5 81431011 81431011 insertion of <=200bp - T intron_variant ESAD-UK 5 81431385 81431385 single base substitution G A intron_variant ESAD-UK 5 81432714 81432714 single base substitution G A intron_variant ESAD-UK 5 81432835 81432835 single base substitution A T intron_variant ESAD-UK 5 81433330 81433330 single base substitution C T intron_variant ESAD-UK 5 81437745 81437745 single base substitution C G intron_variant ESAD-UK 5 81438551 81438551 single base substitution C T intron_variant ESAD-UK 5 81439580 81439580 single base substitution T G intron_variant ESAD-UK 5 81441205 81441205 single base substitution C T intron_variant ESAD-UK 5 81441818 81441818 single base substitution G A intron_variant ESAD-UK 5 81443026 81443026 single base substitution C T intron_variant ESAD-UK 5 81443026 81443026 single base substitution C T synonymous_variant V78V 234C>T ESAD-UK 5 81445285 81445285 single base substitution G A downstream_gene_variant ESAD-UK 5 81445285 81445285 single base substitution G A intron_variant ESAD-UK 5 81445796 81445796 single base substitution G A downstream_gene_variant ESAD-UK 5 81445796 81445796 single base substitution G A intron_variant ESAD-UK 5 81445803 81445803 single base substitution A G downstream_gene_variant ESAD-UK 5 81445803 81445803 single base substitution A G intron_variant ESAD-UK 5 81446109 81446109 single base substitution G A downstream_gene_variant ESAD-UK 5 81446109 81446109 single base substitution G A intron_variant ESAD-UK 5 81446511 81446511 single base substitution G T downstream_gene_variant ESAD-UK 5 81446511 81446511 single base substitution G T intron_variant ESAD-UK 5 81447278 81447278 single base substitution G A downstream_gene_variant ESAD-UK 5 81447278 81447278 single base substitution G A intron_variant ESAD-UK 5 81449602 81449602 single base substitution C G intron_variant ESAD-UK 5 81451637 81451637 single base substitution A C intron_variant ESAD-UK 5 81452612 81452612 single base substitution C T intron_variant ESAD-UK 5 81452855 81452855 single base substitution C T intron_variant ESAD-UK 5 81454168 81454168 deletion of <=200bp C - intron_variant ESAD-UK 5 81454168 81454168 insertion of <=200bp - C intron_variant ESAD-UK 5 81457284 81457284 single base substitution A G intron_variant ESAD-UK 5 81457284 81457284 single base substitution A G upstream_gene_variant ESAD-UK 5 81458582 81458582 single base substitution G A intron_variant ESAD-UK 5 81458582 81458582 single base substitution G A upstream_gene_variant ESAD-UK 5 81461881 81461881 single base substitution G A intron_variant ESAD-UK 5 81461906 81461906 single base substitution G T intron_variant ESAD-UK 5 81462234 81462234 single base substitution G A intron_variant ESAD-UK 5 81462431 81462431 insertion of <=200bp - C intron_variant ESAD-UK 5 81463413 81463413 single base substitution T G intron_variant ESAD-UK 5 81465103 81465103 single base substitution G A intron_variant ESAD-UK 5 81465686 81465686 deletion of <=200bp A - intron_variant ESAD-UK 5 81466000 81466000 single base substitution A G intron_variant ESAD-UK 5 81466491 81466491 single base substitution G A intron_variant ESAD-UK 5 81467706 81467706 single base substitution A G intron_variant ESAD-UK 5 81467734 81467734 single base substitution C A intron_variant ESAD-UK 5 81469184 81469184 single base substitution T A intron_variant ESAD-UK 5 81469260 81469260 single base substitution C G intron_variant ESAD-UK 5 81469275 81469275 single base substitution C G intron_variant ESAD-UK 5 81472735 81472735 single base substitution G C intron_variant ESAD-UK 5 81472800 81472800 single base substitution A T intron_variant ESAD-UK 5 81473781 81473781 single base substitution C T intron_variant ESAD-UK 5 81475203 81475203 single base substitution C T intron_variant ESAD-UK 5 81476122 81476122 single base substitution C T intron_variant ESAD-UK 5 81476825 81476825 single base substitution T A intron_variant ESAD-UK 5 81483564 81483564 single base substitution G A intron_variant ESAD-UK 5 81483599 81483599 single base substitution G T intron_variant ESAD-UK 5 81484886 81484886 single base substitution G C intron_variant ESAD-UK 5 81486324 81486324 single base substitution G A intron_variant ESAD-UK 5 81487556 81487556 single base substitution A G intron_variant ESAD-UK 5 81487674 81487674 single base substitution T G intron_variant ESAD-UK 5 81489067 81489067 single base substitution A G intron_variant ESAD-UK 5 81492101 81492101 single base substitution A C intron_variant ESAD-UK 5 81492862 81492862 single base substitution T G intron_variant ESAD-UK 5 81493925 81493925 single base substitution A G intron_variant ESAD-UK 5 81495839 81495839 single base substitution G C intron_variant ESAD-UK 5 81497149 81497149 single base substitution T A intron_variant ESAD-UK 5 81498914 81498914 single base substitution G C intron_variant ESAD-UK 5 81499508 81499508 single base substitution G C intron_variant ESAD-UK 5 81499708 81499708 single base substitution G C intron_variant ESAD-UK 5 81500981 81500981 single base substitution G T intron_variant ESAD-UK 5 81501343 81501343 single base substitution A G intron_variant ESAD-UK 5 81503131 81503131 single base substitution G A intron_variant ESAD-UK 5 81506446 81506446 single base substitution T C intron_variant ESAD-UK 5 81516453 81516455 deletion of <=200bp TCT - intron_variant ESAD-UK 5 81516515 81516515 single base substitution C A intron_variant ESAD-UK 5 81518695 81518695 single base substitution C T intron_variant ESAD-UK 5 81519281 81519281 single base substitution G A intron_variant ESAD-UK 5 81519472 81519472 single base substitution A T intron_variant ESAD-UK 5 81521591 81521591 single base substitution A C intron_variant ESAD-UK 5 81522269 81522269 single base substitution C A intron_variant ESAD-UK 5 81526403 81526403 single base substitution T G intron_variant ESAD-UK 5 81526488 81526488 single base substitution G T intron_variant ESAD-UK 5 81526847 81526847 single base substitution G A intron_variant ESAD-UK 5 81527213 81527213 single base substitution G A intron_variant ESAD-UK 5 81529304 81529304 single base substitution C T intron_variant ESAD-UK 5 81529590 81529590 insertion of <=200bp - A intron_variant ESAD-UK 5 81531034 81531034 single base substitution T G intron_variant ESAD-UK 5 81532735 81532735 single base substitution C A intron_variant ESAD-UK 5 81533915 81533915 single base substitution G A intron_variant ESAD-UK 5 81534478 81534478 single base substitution C T intron_variant ESAD-UK 5 81535500 81535500 single base substitution G A intron_variant ESAD-UK 5 81535567 81535567 single base substitution A C intron_variant ESAD-UK 5 81535643 81535643 single base substitution C A intron_variant ESAD-UK 5 81535722 81535722 single base substitution A T intron_variant ESAD-UK 5 81537633 81537633 single base substitution C T intron_variant ESAD-UK 5 81538454 81538454 single base substitution C T intron_variant ESAD-UK 5 81539035 81539035 single base substitution C T intron_variant ESAD-UK 5 81540185 81540185 single base substitution C A intron_variant ESAD-UK 5 81540555 81540555 single base substitution G A intron_variant ESAD-UK 5 81541012 81541012 single base substitution T A intron_variant ESAD-UK 5 81544347 81544347 single base substitution A C intron_variant ESAD-UK 5 81545193 81545193 single base substitution C G intron_variant ESAD-UK 5 81545211 81545211 single base substitution C T intron_variant ESAD-UK 5 81548124 81548124 single base substitution G T intron_variant ESAD-UK 5 81548535 81548535 deletion of <=200bp T - downstream_gene_variant ESAD-UK 5 81548535 81548535 deletion of <=200bp T - intron_variant ESAD-UK 5 81548593 81548594 deletion of <=200bp AC - downstream_gene_variant ESAD-UK 5 81548593 81548594 deletion of <=200bp AC - intron_variant ESAD-UK 5 81549802 81549802 single base substitution A G downstream_gene_variant ESAD-UK 5 81549802 81549802 single base substitution A G intron_variant ESAD-UK 5 81550187 81550187 single base substitution G A 3_prime_UTR_variant ESAD-UK 5 81550187 81550187 single base substitution G A downstream_gene_variant ESAD-UK 5 81550187 81550187 single base substitution G A intron_variant ESAD-UK 5 81551568 81551568 single base substitution C A 3_prime_UTR_variant ESAD-UK 5 81551568 81551568 single base substitution C A downstream_gene_variant ESAD-UK 5 81551568 81551568 single base substitution C A intron_variant ESAD-UK 5 81553012 81553012 single base substitution C T downstream_gene_variant ESAD-UK 5 81553012 81553012 single base substitution C T intron_variant ESAD-UK 5 81555876 81555876 single base substitution A T downstream_gene_variant ESAD-UK 5 81555876 81555876 single base substitution A T intron_variant ESAD-UK 5 81555995 81555995 single base substitution G A downstream_gene_variant ESAD-UK 5 81555995 81555995 single base substitution G A intron_variant ESAD-UK 5 81556069 81556069 single base substitution G C downstream_gene_variant ESAD-UK 5 81556069 81556069 single base substitution G C intron_variant ESAD-UK 5 81556633 81556633 single base substitution T A downstream_gene_variant ESAD-UK 5 81556633 81556633 single base substitution T A intron_variant ESAD-UK 5 81557599 81557599 deletion of <=200bp C - intron_variant ESAD-UK 5 81558104 81558104 single base substitution T C intron_variant ESAD-UK 5 81560194 81560194 single base substitution T A intron_variant ESAD-UK 5 81560940 81560940 single base substitution A G intron_variant ESAD-UK 5 81561149 81561149 deletion of <=200bp T - intron_variant ESAD-UK 5 81561252 81561252 deletion of <=200bp T - intron_variant ESAD-UK 5 81561663 81561663 single base substitution T A intron_variant ESAD-UK 5 81561691 81561691 single base substitution A C intron_variant ESAD-UK 5 81562663 81562663 single base substitution T C intron_variant ESAD-UK 5 81564498 81564498 single base substitution T C intron_variant ESAD-UK 5 81565920 81565920 single base substitution A G intron_variant ESAD-UK 5 81566756 81566756 single base substitution G T intron_variant ESAD-UK 5 81568700 81568700 single base substitution T G intron_variant ESAD-UK 5 81569777 81569777 single base substitution G A intron_variant ESAD-UK 5 81569935 81569937 deletion of <=200bp ACA - intron_variant ESAD-UK 5 81571431 81571431 single base substitution T C intron_variant ESAD-UK 5 81573881 81573881 single base substitution A C downstream_gene_variant ESAD-UK 5 81576270 81576270 single base substitution G A downstream_gene_variant ESAD-UK 5 81576513 81576513 single base substitution C T downstream_gene_variant ESCA-CN 5 81474456 81474456 single base substitution C T intron_variant KIRP-US 5 81474374 81474374 single base substitution C A exon_variant KIRP-US 5 81474374 81474374 single base substitution C A missense_variant L141I 421C>A KIRP-US 5 81549249 81549249 single base substitution G A 3_prime_UTR_variant KIRP-US 5 81549249 81549249 single base substitution G A downstream_gene_variant KIRP-US 5 81549249 81549249 single base substitution G A intron_variant KIRP-US 5 81549249 81549249 single base substitution G A splice_donor_variant LAML-KR 5 81421505 81421505 single base substitution A G intron_variant LAML-KR 5 81435757 81435757 single base substitution T G intron_variant LAML-KR 5 81435831 81435831 single base substitution C G intron_variant LAML-KR 5 81568706 81568706 single base substitution G A intron_variant LICA-FR 5 81271392 81271392 single base substitution T A intron_variant LICA-FR 5 81275542 81275542 single base substitution C T intron_variant LICA-FR 5 81280850 81280850 single base substitution T G intron_variant LICA-FR 5 81280850 81280850 single base substitution T G upstream_gene_variant LICA-FR 5 81295304 81295304 single base substitution G T intron_variant LICA-FR 5 81303881 81303881 single base substitution A G intron_variant LICA-FR 5 81308661 81308661 single base substitution G A intron_variant LICA-FR 5 81308784 81308784 deletion of <=200bp T - intron_variant LICA-FR 5 81313649 81313649 single base substitution C A intron_variant LICA-FR 5 81330570 81330570 single base substitution C T intron_variant LICA-FR 5 81335318 81335318 single base substitution C G intron_variant LICA-FR 5 81360156 81360156 single base substitution A G intron_variant LICA-FR 5 81374819 81374819 single base substitution G A intron_variant LICA-FR 5 81389810 81389810 single base substitution A G intron_variant LICA-FR 5 81407048 81407048 single base substitution G T intron_variant LICA-FR 5 81407048 81407048 single base substitution G T upstream_gene_variant LICA-FR 5 81428087 81428087 single base substitution C T intron_variant LICA-FR 5 81429790 81429790 single base substitution T C intron_variant LICA-FR 5 81465580 81465580 single base substitution T C intron_variant LICA-FR 5 81498295 81498295 single base substitution G T intron_variant LICA-FR 5 81501855 81501855 single base substitution A T intron_variant LICA-FR 5 81511755 81511755 insertion of <=200bp - A intron_variant LICA-FR 5 81549237 81549237 single base substitution T G 3_prime_UTR_variant LICA-FR 5 81549237 81549237 single base substitution T G downstream_gene_variant LICA-FR 5 81549237 81549237 single base substitution T G intron_variant LICA-FR 5 81549237 81549237 single base substitution T G missense_variant V219G 656T>G LICA-FR 5 81550213 81550213 insertion of <=200bp - A 3_prime_UTR_variant LICA-FR 5 81550213 81550213 insertion of <=200bp - A downstream_gene_variant LICA-FR 5 81550213 81550213 insertion of <=200bp - A intron_variant LICA-FR 5 81559676 81559676 single base substitution C G intron_variant LICA-FR 5 81572665 81572665 insertion of <=200bp - AA downstream_gene_variant LICA-FR 5 81572665 81572665 insertion of <=200bp - AA exon_variant LICA-FR 5 81573787 81573787 single base substitution T C downstream_gene_variant LIHC-US 5 81474399 81474399 single base substitution C T exon_variant LIHC-US 5 81474399 81474399 single base substitution C T missense_variant T149M 446C>T LIHC-US 5 81548458 81548458 single base substitution G T 3_prime_UTR_variant LIHC-US 5 81548458 81548458 single base substitution G T exon_variant LIHC-US 5 81548458 81548458 single base substitution G T intron_variant LIHC-US 5 81548458 81548458 single base substitution G T missense_variant K177N 531G>T LIHC-US 5 81573513 81573513 insertion of <=200bp - T downstream_gene_variant LINC-JP 5 81264423 81264423 deletion of <=200bp T - upstream_gene_variant LINC-JP 5 81266593 81266593 single base substitution T G upstream_gene_variant LINC-JP 5 81275820 81275820 single base substitution G A intron_variant LINC-JP 5 81276341 81276341 single base substitution C T intron_variant LINC-JP 5 81281321 81281321 single base substitution C T intron_variant LINC-JP 5 81281321 81281321 single base substitution C T upstream_gene_variant LINC-JP 5 81287227 81287227 single base substitution C G downstream_gene_variant LINC-JP 5 81287227 81287227 single base substitution C G intron_variant LINC-JP 5 81301949 81301949 single base substitution A G intron_variant LINC-JP 5 81313408 81313408 single base substitution T G intron_variant LINC-JP 5 81320122 81320122 single base substitution T G intron_variant LINC-JP 5 81320123 81320123 single base substitution T A intron_variant LINC-JP 5 81327372 81327372 single base substitution G T intron_variant LINC-JP 5 81333052 81333053 deletion of <=200bp AC - intron_variant LINC-JP 5 81355483 81355483 single base substitution G T intron_variant LINC-JP 5 81361070 81361070 single base substitution C T intron_variant LINC-JP 5 81364030 81364030 single base substitution A G intron_variant LINC-JP 5 81367502 81367502 single base substitution A G intron_variant LINC-JP 5 81374869 81374869 single base substitution A G intron_variant LINC-JP 5 81409233 81409233 single base substitution A T intron_variant LINC-JP 5 81428294 81428294 single base substitution A T intron_variant LINC-JP 5 81469170 81469170 single base substitution A G intron_variant LINC-JP 5 81469944 81469944 single base substitution A G intron_variant LINC-JP 5 81476838 81476838 single base substitution C T intron_variant LINC-JP 5 81480594 81480594 single base substitution A G intron_variant LINC-JP 5 81505934 81505934 single base substitution G A intron_variant LINC-JP 5 81515982 81515982 single base substitution G T intron_variant LINC-JP 5 81530590 81530590 single base substitution G T intron_variant LINC-JP 5 81548382 81548382 single base substitution A T intron_variant LINC-JP 5 81548382 81548382 single base substitution A T missense_variant E152V 455A>T LINC-JP 5 81548382 81548382 single base substitution A T splice_region_variant LINC-JP 5 81548588 81548588 single base substitution G T downstream_gene_variant LINC-JP 5 81548588 81548588 single base substitution G T intron_variant LINC-JP 5 81560138 81560138 single base substitution C T intron_variant LINC-JP 5 81567823 81567823 single base substitution C T intron_variant LIRI-JP 5 81265914 81265914 single base substitution C T upstream_gene_variant LIRI-JP 5 81266595 81266595 single base substitution C T upstream_gene_variant LIRI-JP 5 81268726 81268726 single base substitution T A intron_variant LIRI-JP 5 81268894 81268894 single base substitution A C intron_variant LIRI-JP 5 81278611 81278611 single base substitution C A intron_variant LIRI-JP 5 81278611 81278611 single base substitution C A upstream_gene_variant LIRI-JP 5 81280966 81280966 single base substitution G A intron_variant LIRI-JP 5 81280966 81280966 single base substitution G A upstream_gene_variant LIRI-JP 5 81281238 81281238 single base substitution A G intron_variant LIRI-JP 5 81281238 81281238 single base substitution A G upstream_gene_variant LIRI-JP 5 81281803 81281803 single base substitution C A intron_variant LIRI-JP 5 81281803 81281803 single base substitution C A upstream_gene_variant LIRI-JP 5 81286987 81286987 single base substitution T C downstream_gene_variant LIRI-JP 5 81286987 81286987 single base substitution T C intron_variant LIRI-JP 5 81288490 81288490 single base substitution C T downstream_gene_variant LIRI-JP 5 81288490 81288490 single base substitution C T intron_variant LIRI-JP 5 81292188 81292188 single base substitution G T intron_variant LIRI-JP 5 81292646 81292646 single base substitution T C intron_variant LIRI-JP 5 81293790 81293790 single base substitution A T intron_variant LIRI-JP 5 81294535 81294535 single base substitution A C intron_variant LIRI-JP 5 81295749 81295749 single base substitution G C intron_variant LIRI-JP 5 81297564 81297564 single base substitution A T intron_variant LIRI-JP 5 81297762 81297762 single base substitution A G intron_variant LIRI-JP 5 81297807 81297807 single base substitution A G intron_variant LIRI-JP 5 81298335 81298335 single base substitution A G intron_variant LIRI-JP 5 81299426 81299426 single base substitution A G intron_variant LIRI-JP 5 81300026 81300026 single base substitution A C intron_variant LIRI-JP 5 81301164 81301164 single base substitution A G intron_variant LIRI-JP 5 81301319 81301319 single base substitution G A intron_variant LIRI-JP 5 81302007 81302007 single base substitution A G intron_variant LIRI-JP 5 81302323 81302323 single base substitution T C intron_variant LIRI-JP 5 81302426 81302426 single base substitution A C intron_variant LIRI-JP 5 81302712 81302712 single base substitution C T intron_variant LIRI-JP 5 81303411 81303411 single base substitution A G intron_variant LIRI-JP 5 81303638 81303638 single base substitution A G intron_variant LIRI-JP 5 81304813 81304813 single base substitution A G intron_variant LIRI-JP 5 81304835 81304835 single base substitution A G intron_variant LIRI-JP 5 81305291 81305291 single base substitution A G intron_variant LIRI-JP 5 81307462 81307462 single base substitution A G intron_variant LIRI-JP 5 81309049 81309049 single base substitution G A intron_variant LIRI-JP 5 81311821 81311821 single base substitution G C intron_variant LIRI-JP 5 81312147 81312147 single base substitution G A intron_variant LIRI-JP 5 81313424 81313424 single base substitution A G intron_variant LIRI-JP 5 81313859 81313859 single base substitution A G intron_variant LIRI-JP 5 81314732 81314732 single base substitution T C intron_variant LIRI-JP 5 81316005 81316005 single base substitution A G intron_variant LIRI-JP 5 81320778 81320778 single base substitution G A intron_variant LIRI-JP 5 81320939 81320939 deletion of <=200bp T - intron_variant LIRI-JP 5 81321748 81321748 single base substitution T G intron_variant LIRI-JP 5 81328640 81328640 single base substitution A T intron_variant LIRI-JP 5 81328643 81328643 single base substitution G T intron_variant LIRI-JP 5 81332671 81332671 single base substitution G C intron_variant LIRI-JP 5 81333650 81333650 single base substitution A G intron_variant LIRI-JP 5 81339819 81339819 single base substitution A C intron_variant LIRI-JP 5 81339888 81339888 single base substitution A T intron_variant LIRI-JP 5 81340254 81340254 single base substitution G T intron_variant LIRI-JP 5 81341008 81341008 single base substitution A G intron_variant LIRI-JP 5 81342886 81342886 single base substitution A G intron_variant LIRI-JP 5 81343014 81343014 single base substitution A G intron_variant LIRI-JP 5 81343339 81343339 single base substitution G A intron_variant LIRI-JP 5 81345960 81345960 single base substitution A G intron_variant LIRI-JP 5 81346938 81346938 single base substitution T C intron_variant LIRI-JP 5 81347207 81347208 deletion of <=200bp CT - intron_variant LIRI-JP 5 81348024 81348024 single base substitution A G intron_variant LIRI-JP 5 81348776 81348776 single base substitution A G intron_variant LIRI-JP 5 81348816 81348816 single base substitution A G intron_variant LIRI-JP 5 81349269 81349269 single base substitution A G intron_variant LIRI-JP 5 81349367 81349368 deletion of <=200bp TT - intron_variant LIRI-JP 5 81349379 81349380 deletion of <=200bp AT - intron_variant LIRI-JP 5 81353901 81353901 single base substitution A G intron_variant LIRI-JP 5 81354345 81354345 single base substitution A G exon_variant LIRI-JP 5 81354345 81354345 single base substitution A G missense_variant H47R 140A>G LIRI-JP 5 81356702 81356702 single base substitution A G intron_variant LIRI-JP 5 81361530 81361530 single base substitution A T intron_variant LIRI-JP 5 81367449 81367449 single base substitution T C intron_variant LIRI-JP 5 81368766 81368766 single base substitution T G intron_variant LIRI-JP 5 81368793 81368793 single base substitution C G intron_variant LIRI-JP 5 81369142 81369142 single base substitution C A intron_variant LIRI-JP 5 81369471 81369471 single base substitution A G intron_variant LIRI-JP 5 81369758 81369758 single base substitution T G intron_variant LIRI-JP 5 81370317 81370317 single base substitution T C intron_variant LIRI-JP 5 81370350 81370350 single base substitution T G intron_variant LIRI-JP 5 81370962 81370962 single base substitution G C intron_variant LIRI-JP 5 81375058 81375058 single base substitution G T intron_variant LIRI-JP 5 81375218 81375218 single base substitution G A intron_variant LIRI-JP 5 81375767 81375767 single base substitution T C intron_variant LIRI-JP 5 81377422 81377422 single base substitution C T intron_variant LIRI-JP 5 81381236 81381236 single base substitution G T intron_variant LIRI-JP 5 81381756 81381756 single base substitution A G intron_variant LIRI-JP 5 81383080 81383080 single base substitution T A intron_variant LIRI-JP 5 81383280 81383280 single base substitution G A intron_variant LIRI-JP 5 81385279 81385279 single base substitution T A intron_variant LIRI-JP 5 81388637 81388637 single base substitution G A intron_variant LIRI-JP 5 81389309 81389309 single base substitution C T intron_variant LIRI-JP 5 81391974 81391974 single base substitution C G intron_variant LIRI-JP 5 81392615 81392615 single base substitution A T intron_variant LIRI-JP 5 81393147 81393147 single base substitution A G intron_variant LIRI-JP 5 81393430 81393430 single base substitution A T intron_variant LIRI-JP 5 81394381 81394381 single base substitution G C intron_variant LIRI-JP 5 81394815 81394815 single base substitution C T intron_variant LIRI-JP 5 81395926 81395926 single base substitution C T intron_variant LIRI-JP 5 81398088 81398088 single base substitution G A intron_variant LIRI-JP 5 81398498 81398498 single base substitution C G intron_variant LIRI-JP 5 81399939 81399939 single base substitution T G intron_variant LIRI-JP 5 81402418 81402418 single base substitution T C intron_variant LIRI-JP 5 81402418 81402418 single base substitution T C upstream_gene_variant LIRI-JP 5 81405017 81405017 single base substitution C G intron_variant LIRI-JP 5 81405017 81405017 single base substitution C G upstream_gene_variant LIRI-JP 5 81405371 81405371 single base substitution T G intron_variant LIRI-JP 5 81405371 81405371 single base substitution T G upstream_gene_variant LIRI-JP 5 81408245 81408245 single base substitution G T intron_variant LIRI-JP 5 81408916 81408916 single base substitution A G intron_variant LIRI-JP 5 81409817 81409817 single base substitution A G intron_variant LIRI-JP 5 81411137 81411137 single base substitution A G intron_variant LIRI-JP 5 81413836 81413836 single base substitution G T intron_variant LIRI-JP 5 81415610 81415610 single base substitution A G intron_variant LIRI-JP 5 81415731 81415731 single base substitution A G intron_variant LIRI-JP 5 81416245 81416245 single base substitution A G intron_variant LIRI-JP 5 81416945 81416945 single base substitution T C intron_variant LIRI-JP 5 81417043 81417043 single base substitution A G intron_variant LIRI-JP 5 81417321 81417321 single base substitution A G intron_variant LIRI-JP 5 81419056 81419056 single base substitution A G intron_variant LIRI-JP 5 81419138 81419138 single base substitution A T intron_variant LIRI-JP 5 81420677 81420677 single base substitution A T intron_variant LIRI-JP 5 81424758 81424758 single base substitution A T intron_variant LIRI-JP 5 81424991 81424991 single base substitution T A intron_variant LIRI-JP 5 81429295 81429295 single base substitution G C intron_variant LIRI-JP 5 81433072 81433072 single base substitution G A intron_variant LIRI-JP 5 81437840 81437840 single base substitution T C intron_variant LIRI-JP 5 81438904 81438904 single base substitution A G intron_variant LIRI-JP 5 81441729 81441729 single base substitution T C intron_variant LIRI-JP 5 81443379 81443379 single base substitution A G 3_prime_UTR_variant LIRI-JP 5 81443379 81443379 single base substitution A G downstream_gene_variant LIRI-JP 5 81443379 81443379 single base substitution A G intron_variant LIRI-JP 5 81443392 81443392 single base substitution G A 3_prime_UTR_variant LIRI-JP 5 81443392 81443392 single base substitution G A downstream_gene_variant LIRI-JP 5 81443392 81443392 single base substitution G A intron_variant LIRI-JP 5 81445608 81445608 single base substitution A G downstream_gene_variant LIRI-JP 5 81445608 81445608 single base substitution A G intron_variant LIRI-JP 5 81448470 81448470 single base substitution C G downstream_gene_variant LIRI-JP 5 81448470 81448470 single base substitution C G intron_variant LIRI-JP 5 81450800 81450800 single base substitution A G intron_variant LIRI-JP 5 81451274 81451274 single base substitution T G intron_variant LIRI-JP 5 81451448 81451448 single base substitution A G intron_variant LIRI-JP 5 81451866 81451866 single base substitution A G intron_variant LIRI-JP 5 81454090 81454090 single base substitution A G intron_variant LIRI-JP 5 81455277 81455277 single base substitution A T intron_variant LIRI-JP 5 81455277 81455277 single base substitution A T upstream_gene_variant LIRI-JP 5 81455853 81455853 single base substitution A G intron_variant LIRI-JP 5 81455853 81455853 single base substitution A G upstream_gene_variant LIRI-JP 5 81457426 81457426 single base substitution A G intron_variant LIRI-JP 5 81457426 81457426 single base substitution A G upstream_gene_variant LIRI-JP 5 81459514 81459514 single base substitution A C intron_variant LIRI-JP 5 81459514 81459514 single base substitution A C upstream_gene_variant LIRI-JP 5 81459890 81459890 single base substitution A G intron_variant LIRI-JP 5 81459890 81459890 single base substitution A G upstream_gene_variant LIRI-JP 5 81464856 81464856 single base substitution G T intron_variant LIRI-JP 5 81466031 81466031 single base substitution G T intron_variant LIRI-JP 5 81472520 81472520 single base substitution A G intron_variant LIRI-JP 5 81473150 81473150 single base substitution A G intron_variant LIRI-JP 5 81473624 81473624 insertion of <=200bp - T intron_variant LIRI-JP 5 81477742 81477742 single base substitution T C intron_variant LIRI-JP 5 81478812 81478812 single base substitution C T intron_variant LIRI-JP 5 81479476 81479476 single base substitution A G intron_variant LIRI-JP 5 81481649 81481649 single base substitution G A intron_variant LIRI-JP 5 81481754 81481754 single base substitution A G intron_variant LIRI-JP 5 81483714 81483714 single base substitution T C intron_variant LIRI-JP 5 81486893 81486893 single base substitution C G intron_variant LIRI-JP 5 81487122 81487122 single base substitution T G intron_variant LIRI-JP 5 81489912 81489912 single base substitution G A intron_variant LIRI-JP 5 81490843 81490843 single base substitution G A intron_variant LIRI-JP 5 81491147 81491147 single base substitution A G intron_variant LIRI-JP 5 81492710 81492710 single base substitution A G intron_variant LIRI-JP 5 81493114 81493114 single base substitution T C intron_variant LIRI-JP 5 81493950 81493959 deletion of <=200bp TTGTAGGTTT - intron_variant LIRI-JP 5 81498706 81498706 single base substitution A T intron_variant LIRI-JP 5 81499785 81499785 single base substitution A T intron_variant LIRI-JP 5 81501013 81501013 single base substitution A G intron_variant LIRI-JP 5 81502403 81502403 single base substitution A G intron_variant LIRI-JP 5 81502633 81502633 single base substitution A T intron_variant LIRI-JP 5 81503319 81503319 single base substitution A G intron_variant LIRI-JP 5 81503929 81503929 single base substitution G T intron_variant LIRI-JP 5 81506417 81506417 single base substitution A G intron_variant LIRI-JP 5 81506579 81506579 single base substitution C T intron_variant LIRI-JP 5 81506916 81506916 single base substitution A T intron_variant LIRI-JP 5 81507225 81507225 single base substitution T C intron_variant LIRI-JP 5 81508921 81508921 single base substitution G T intron_variant LIRI-JP 5 81512848 81512848 single base substitution T A intron_variant LIRI-JP 5 81514865 81514868 deletion of <=200bp CTTA - intron_variant LIRI-JP 5 81515565 81515565 single base substitution C A intron_variant LIRI-JP 5 81515685 81515685 single base substitution A G intron_variant LIRI-JP 5 81517927 81517927 single base substitution C T intron_variant LIRI-JP 5 81518344 81518344 single base substitution A G intron_variant LIRI-JP 5 81519140 81519140 single base substitution A T intron_variant LIRI-JP 5 81519332 81519332 single base substitution A G intron_variant LIRI-JP 5 81521302 81521302 single base substitution A C intron_variant LIRI-JP 5 81521588 81521588 single base substitution T C intron_variant LIRI-JP 5 81522240 81522240 single base substitution A C intron_variant LIRI-JP 5 81522655 81522655 single base substitution A G intron_variant LIRI-JP 5 81525705 81525705 single base substitution A G intron_variant LIRI-JP 5 81527391 81527391 single base substitution A T intron_variant LIRI-JP 5 81532584 81532584 single base substitution T A intron_variant LIRI-JP 5 81535887 81535887 single base substitution G T intron_variant LIRI-JP 5 81539433 81539433 single base substitution T C intron_variant LIRI-JP 5 81541390 81541390 deletion of <=200bp T - intron_variant LIRI-JP 5 81541493 81541493 single base substitution A G intron_variant LIRI-JP 5 81542006 81542006 single base substitution C T intron_variant LIRI-JP 5 81542745 81542745 single base substitution G C intron_variant LIRI-JP 5 81543167 81543167 single base substitution A G intron_variant LIRI-JP 5 81545206 81545206 single base substitution A G intron_variant LIRI-JP 5 81546619 81546619 single base substitution A G intron_variant LIRI-JP 5 81549329 81549329 single base substitution G C downstream_gene_variant LIRI-JP 5 81549329 81549329 single base substitution G C intron_variant LIRI-JP 5 81549857 81549857 single base substitution T G downstream_gene_variant LIRI-JP 5 81549857 81549857 single base substitution T G intron_variant LIRI-JP 5 81551710 81551710 single base substitution G A 3_prime_UTR_variant LIRI-JP 5 81551710 81551710 single base substitution G A downstream_gene_variant LIRI-JP 5 81551710 81551710 single base substitution G A intron_variant LIRI-JP 5 81557853 81557853 single base substitution T A intron_variant LIRI-JP 5 81558250 81558250 single base substitution T A intron_variant LIRI-JP 5 81559155 81559156 deletion of <=200bp AC - intron_variant LIRI-JP 5 81559981 81559981 single base substitution G A intron_variant LIRI-JP 5 81561264 81561264 single base substitution A G intron_variant LIRI-JP 5 81562524 81562524 single base substitution G C intron_variant LIRI-JP 5 81566287 81566287 single base substitution A G intron_variant LIRI-JP 5 81569833 81569833 single base substitution G T intron_variant LIRI-JP 5 81569995 81569995 single base substitution T G intron_variant LIRI-JP 5 81572085 81572094 deletion of <=200bp ATAAGAAGTT - exon_variant LIRI-JP 5 81572087 81572089 deletion of <=200bp AAG - exon_variant LIRI-JP 5 81574696 81574696 single base substitution C T downstream_gene_variant LUSC-KR 5 81267797 81267797 single base substitution C G upstream_gene_variant LUSC-KR 5 81269684 81269684 single base substitution T C intron_variant LUSC-KR 5 81279870 81279870 single base substitution G A intron_variant LUSC-KR 5 81279870 81279870 single base substitution G A upstream_gene_variant LUSC-KR 5 81285404 81285404 single base substitution G C downstream_gene_variant LUSC-KR 5 81285404 81285404 single base substitution G C intron_variant LUSC-KR 5 81289159 81289159 single base substitution T C intron_variant LUSC-KR 5 81291086 81291086 single base substitution A G intron_variant LUSC-KR 5 81294979 81294979 single base substitution G A intron_variant LUSC-KR 5 81296320 81296320 single base substitution C T intron_variant LUSC-KR 5 81301033 81301033 single base substitution T G intron_variant LUSC-KR 5 81302423 81302423 single base substitution T C intron_variant LUSC-KR 5 81302857 81302857 single base substitution G T intron_variant LUSC-KR 5 81305402 81305402 single base substitution A C intron_variant LUSC-KR 5 81306349 81306349 single base substitution C G intron_variant LUSC-KR 5 81307618 81307618 single base substitution C T intron_variant LUSC-KR 5 81308214 81308214 single base substitution C G intron_variant LUSC-KR 5 81315868 81315868 single base substitution G T intron_variant LUSC-KR 5 81332363 81332363 single base substitution A T intron_variant LUSC-KR 5 81333101 81333101 single base substitution C G intron_variant LUSC-KR 5 81334955 81334955 single base substitution G A intron_variant LUSC-KR 5 81336354 81336354 single base substitution A G intron_variant LUSC-KR 5 81337524 81337524 single base substitution A T intron_variant LUSC-KR 5 81341436 81341436 single base substitution G T intron_variant LUSC-KR 5 81341778 81341778 single base substitution G T intron_variant LUSC-KR 5 81343140 81343140 single base substitution A G intron_variant LUSC-KR 5 81344036 81344036 single base substitution A T intron_variant LUSC-KR 5 81344096 81344096 single base substitution G A intron_variant LUSC-KR 5 81346486 81346486 single base substitution G T intron_variant LUSC-KR 5 81348602 81348602 single base substitution C T intron_variant LUSC-KR 5 81348888 81348888 single base substitution G C intron_variant LUSC-KR 5 81370865 81370865 single base substitution C T intron_variant LUSC-KR 5 81379502 81379502 single base substitution G C intron_variant LUSC-KR 5 81391266 81391266 single base substitution G T intron_variant LUSC-KR 5 81401864 81401864 single base substitution G T intron_variant LUSC-KR 5 81419305 81419305 single base substitution A T intron_variant LUSC-KR 5 81422243 81422243 single base substitution T C intron_variant LUSC-KR 5 81422950 81422950 single base substitution T C intron_variant LUSC-KR 5 81424921 81424921 single base substitution C A intron_variant LUSC-KR 5 81427274 81427274 single base substitution C T intron_variant LUSC-KR 5 81427284 81427284 single base substitution C T intron_variant LUSC-KR 5 81428259 81428259 single base substitution T C intron_variant LUSC-KR 5 81428285 81428285 single base substitution C T intron_variant LUSC-KR 5 81430607 81430607 single base substitution C G intron_variant LUSC-KR 5 81435002 81435002 single base substitution G T intron_variant LUSC-KR 5 81435054 81435054 single base substitution C T intron_variant LUSC-KR 5 81435194 81435194 single base substitution C G intron_variant LUSC-KR 5 81435664 81435664 single base substitution G T intron_variant LUSC-KR 5 81435795 81435795 single base substitution A G intron_variant LUSC-KR 5 81435945 81435945 single base substitution C T intron_variant LUSC-KR 5 81435957 81435957 single base substitution T A intron_variant LUSC-KR 5 81435997 81435997 single base substitution G A intron_variant LUSC-KR 5 81436633 81436633 single base substitution G A intron_variant LUSC-KR 5 81436795 81436795 single base substitution G A intron_variant LUSC-KR 5 81440720 81440720 single base substitution A G intron_variant LUSC-KR 5 81449943 81449943 single base substitution A G intron_variant LUSC-KR 5 81459100 81459100 single base substitution G C intron_variant LUSC-KR 5 81459100 81459100 single base substitution G C upstream_gene_variant LUSC-KR 5 81482922 81482922 single base substitution T C intron_variant LUSC-KR 5 81489585 81489585 single base substitution T G intron_variant LUSC-KR 5 81490637 81490637 single base substitution A T intron_variant LUSC-KR 5 81504072 81504072 single base substitution A T intron_variant LUSC-KR 5 81504632 81504632 single base substitution C G intron_variant LUSC-KR 5 81531001 81531001 single base substitution C T intron_variant LUSC-KR 5 81534928 81534928 single base substitution G A intron_variant LUSC-KR 5 81536777 81536777 single base substitution G T intron_variant LUSC-KR 5 81537215 81537215 single base substitution C T intron_variant LUSC-KR 5 81537626 81537626 single base substitution C G intron_variant LUSC-KR 5 81540521 81540521 single base substitution C T intron_variant LUSC-KR 5 81540722 81540722 single base substitution C T intron_variant LUSC-KR 5 81540751 81540751 single base substitution C T intron_variant LUSC-KR 5 81547498 81547498 single base substitution A G intron_variant LUSC-KR 5 81548314 81548314 single base substitution C T intron_variant LUSC-KR 5 81549585 81549585 single base substitution G C downstream_gene_variant LUSC-KR 5 81549585 81549585 single base substitution G C intron_variant LUSC-KR 5 81550708 81550708 single base substitution A T 3_prime_UTR_variant LUSC-KR 5 81550708 81550708 single base substitution A T downstream_gene_variant LUSC-KR 5 81550708 81550708 single base substitution A T intron_variant LUSC-KR 5 81550741 81550741 single base substitution A G 3_prime_UTR_variant LUSC-KR 5 81550741 81550741 single base substitution A G downstream_gene_variant LUSC-KR 5 81550741 81550741 single base substitution A G intron_variant LUSC-KR 5 81556081 81556081 single base substitution C T downstream_gene_variant LUSC-KR 5 81556081 81556081 single base substitution C T intron_variant LUSC-KR 5 81559565 81559565 single base substitution T C intron_variant LUSC-KR 5 81566132 81566132 single base substitution G C intron_variant LUSC-US 5 81549141 81549141 single base substitution A G 3_prime_UTR_variant LUSC-US 5 81549141 81549141 single base substitution A G downstream_gene_variant LUSC-US 5 81549141 81549141 single base substitution A G intron_variant LUSC-US 5 81549141 81549141 single base substitution A G missense_variant N187S 560A>G MALY-DE 5 81274576 81274576 single base substitution C T intron_variant MALY-DE 5 81289578 81289578 single base substitution C G intron_variant MALY-DE 5 81290946 81290947 deletion of <=200bp TG - intron_variant MALY-DE 5 81295138 81295138 single base substitution A C intron_variant MALY-DE 5 81296449 81296449 single base substitution A G intron_variant MALY-DE 5 81301361 81301361 single base substitution G C intron_variant MALY-DE 5 81306282 81306282 single base substitution T G intron_variant MALY-DE 5 81307723 81307723 single base substitution C T intron_variant MALY-DE 5 81309585 81309585 single base substitution C T intron_variant MALY-DE 5 81319260 81319260 single base substitution A T intron_variant MALY-DE 5 81333945 81333945 single base substitution A G intron_variant MALY-DE 5 81338207 81338207 single base substitution C G intron_variant MALY-DE 5 81340020 81340020 single base substitution C G intron_variant MALY-DE 5 81346691 81346691 single base substitution A C intron_variant MALY-DE 5 81355372 81355372 single base substitution A T intron_variant MALY-DE 5 81362238 81362238 single base substitution C A intron_variant MALY-DE 5 81367329 81367329 single base substitution T G intron_variant MALY-DE 5 81378018 81378018 single base substitution T C intron_variant MALY-DE 5 81380691 81380691 insertion of <=200bp - A intron_variant MALY-DE 5 81382004 81382004 single base substitution A G intron_variant MALY-DE 5 81384526 81384526 single base substitution G C intron_variant MALY-DE 5 81386377 81386377 single base substitution A G intron_variant MALY-DE 5 81389954 81389954 single base substitution T C intron_variant MALY-DE 5 81392611 81392611 single base substitution C T intron_variant MALY-DE 5 81392864 81392864 single base substitution T C intron_variant MALY-DE 5 81395659 81395659 single base substitution T C intron_variant MALY-DE 5 81395994 81395994 single base substitution A C intron_variant MALY-DE 5 81397654 81397654 single base substitution T G intron_variant MALY-DE 5 81397699 81397699 single base substitution G A intron_variant MALY-DE 5 81400277 81400277 single base substitution A G intron_variant MALY-DE 5 81413732 81413732 single base substitution T G intron_variant MALY-DE 5 81422978 81422978 single base substitution G C intron_variant MALY-DE 5 81431133 81431133 single base substitution G A intron_variant MALY-DE 5 81431745 81431745 single base substitution A C intron_variant MALY-DE 5 81439911 81439911 single base substitution T G intron_variant MALY-DE 5 81441976 81441976 single base substitution T A intron_variant MALY-DE 5 81462336 81462336 single base substitution C T intron_variant MALY-DE 5 81463870 81463870 single base substitution C T intron_variant MALY-DE 5 81471726 81471726 single base substitution A C intron_variant MALY-DE 5 81485757 81485757 single base substitution A G intron_variant MALY-DE 5 81501116 81501116 insertion of <=200bp - T intron_variant MALY-DE 5 81502612 81502612 single base substitution C A intron_variant MALY-DE 5 81504395 81504395 single base substitution A C intron_variant MALY-DE 5 81506441 81506441 deletion of <=200bp T - intron_variant MALY-DE 5 81520744 81520744 single base substitution T G intron_variant MALY-DE 5 81520851 81520851 single base substitution T A intron_variant MALY-DE 5 81524295 81524295 single base substitution C T intron_variant MALY-DE 5 81525751 81525751 single base substitution T C intron_variant MALY-DE 5 81526677 81526677 single base substitution T C intron_variant MALY-DE 5 81532824 81532824 single base substitution T C intron_variant MALY-DE 5 81541672 81541672 single base substitution A C intron_variant MALY-DE 5 81554804 81554805 deletion of <=200bp TG - downstream_gene_variant MALY-DE 5 81554804 81554805 deletion of <=200bp TG - intron_variant MALY-DE 5 81554963 81554963 single base substitution A C downstream_gene_variant MALY-DE 5 81554963 81554963 single base substitution A C intron_variant MALY-DE 5 81559317 81559317 single base substitution A C intron_variant MALY-DE 5 81567970 81567970 single base substitution C T intron_variant MALY-DE 5 81573507 81573507 insertion of <=200bp - CTTACACTTTTT downstream_gene_variant MALY-DE 5 81575296 81575296 single base substitution A C downstream_gene_variant MELA-AU 5 81263280 81263280 single base substitution T G upstream_gene_variant MELA-AU 5 81263360 81263360 single base substitution G A upstream_gene_variant MELA-AU 5 81263410 81263410 single base substitution G A upstream_gene_variant MELA-AU 5 81263639 81263639 single base substitution C T upstream_gene_variant MELA-AU 5 81263655 81263655 single base substitution G A upstream_gene_variant MELA-AU 5 81263737 81263737 single base substitution C T upstream_gene_variant MELA-AU 5 81263886 81263886 single base substitution C T upstream_gene_variant MELA-AU 5 81264132 81264132 single base substitution T C upstream_gene_variant MELA-AU 5 81264297 81264297 single base substitution C T upstream_gene_variant MELA-AU 5 81264545 81264545 single base substitution G A upstream_gene_variant MELA-AU 5 81264826 81264826 single base substitution C T upstream_gene_variant MELA-AU 5 81264882 81264882 single base substitution C T upstream_gene_variant MELA-AU 5 81265092 81265092 single base substitution G A upstream_gene_variant MELA-AU 5 81265110 81265110 single base substitution G A upstream_gene_variant MELA-AU 5 81265325 81265325 single base substitution G A upstream_gene_variant MELA-AU 5 81265358 81265358 single base substitution G A upstream_gene_variant MELA-AU 5 81265689 81265689 single base substitution C T upstream_gene_variant MELA-AU 5 81265748 81265748 single base substitution C T upstream_gene_variant MELA-AU 5 81265885 81265885 single base substitution C T upstream_gene_variant MELA-AU 5 81265885 81265886 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 81266163 81266163 single base substitution T C upstream_gene_variant MELA-AU 5 81266602 81266602 single base substitution G A upstream_gene_variant MELA-AU 5 81267582 81267582 single base substitution C T upstream_gene_variant MELA-AU 5 81268071 81268071 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 5 81268071 81268071 single base substitution C T upstream_gene_variant MELA-AU 5 81268674 81268674 single base substitution T G intron_variant MELA-AU 5 81269166 81269166 single base substitution C T intron_variant MELA-AU 5 81269255 81269255 single base substitution C T intron_variant MELA-AU 5 81269744 81269744 single base substitution C T intron_variant MELA-AU 5 81271080 81271080 single base substitution C T intron_variant MELA-AU 5 81272366 81272366 single base substitution C T intron_variant MELA-AU 5 81272936 81272936 single base substitution C T intron_variant MELA-AU 5 81272955 81272955 single base substitution G A intron_variant MELA-AU 5 81273308 81273308 single base substitution C T intron_variant MELA-AU 5 81273779 81273779 single base substitution C T intron_variant MELA-AU 5 81274182 81274182 single base substitution C T intron_variant MELA-AU 5 81274917 81274917 single base substitution C T intron_variant MELA-AU 5 81275104 81275104 single base substitution C T intron_variant MELA-AU 5 81275293 81275293 single base substitution G A intron_variant MELA-AU 5 81275304 81275304 single base substitution A T intron_variant MELA-AU 5 81275779 81275779 single base substitution C T intron_variant MELA-AU 5 81275997 81275997 single base substitution C T intron_variant MELA-AU 5 81276004 81276004 single base substitution C T intron_variant MELA-AU 5 81276130 81276130 single base substitution C T intron_variant MELA-AU 5 81277309 81277309 single base substitution C T intron_variant MELA-AU 5 81278278 81278278 single base substitution A T intron_variant MELA-AU 5 81278531 81278531 single base substitution C T intron_variant MELA-AU 5 81278531 81278531 single base substitution C T upstream_gene_variant MELA-AU 5 81278651 81278651 single base substitution T C intron_variant MELA-AU 5 81278651 81278651 single base substitution T C upstream_gene_variant MELA-AU 5 81278847 81278847 single base substitution C T intron_variant MELA-AU 5 81278847 81278847 single base substitution C T upstream_gene_variant MELA-AU 5 81279014 81279015 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 81279014 81279015 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 81279123 81279123 single base substitution C T intron_variant MELA-AU 5 81279123 81279123 single base substitution C T upstream_gene_variant MELA-AU 5 81279251 81279252 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 81279251 81279252 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 81279346 81279346 single base substitution C T intron_variant MELA-AU 5 81279346 81279346 single base substitution C T upstream_gene_variant MELA-AU 5 81279454 81279454 single base substitution G A intron_variant MELA-AU 5 81279454 81279454 single base substitution G A upstream_gene_variant MELA-AU 5 81279475 81279475 single base substitution C T intron_variant MELA-AU 5 81279475 81279475 single base substitution C T upstream_gene_variant MELA-AU 5 81279833 81279833 single base substitution C T intron_variant MELA-AU 5 81279833 81279833 single base substitution C T upstream_gene_variant MELA-AU 5 81282236 81282236 single base substitution C T intron_variant MELA-AU 5 81282236 81282236 single base substitution C T upstream_gene_variant MELA-AU 5 81282478 81282478 single base substitution C T intron_variant MELA-AU 5 81282478 81282478 single base substitution C T upstream_gene_variant MELA-AU 5 81282820 81282820 single base substitution C T intron_variant MELA-AU 5 81282820 81282820 single base substitution C T upstream_gene_variant MELA-AU 5 81283158 81283158 single base substitution G A intron_variant MELA-AU 5 81283158 81283158 single base substitution G A upstream_gene_variant MELA-AU 5 81283248 81283248 single base substitution C T intron_variant MELA-AU 5 81283248 81283248 single base substitution C T upstream_gene_variant MELA-AU 5 81284389 81284389 single base substitution A G downstream_gene_variant MELA-AU 5 81284389 81284389 single base substitution A G intron_variant MELA-AU 5 81284731 81284731 single base substitution C G downstream_gene_variant MELA-AU 5 81284731 81284731 single base substitution C G intron_variant MELA-AU 5 81285574 81285574 single base substitution G A downstream_gene_variant MELA-AU 5 81285574 81285574 single base substitution G A intron_variant MELA-AU 5 81285682 81285682 single base substitution C T downstream_gene_variant MELA-AU 5 81285682 81285682 single base substitution C T intron_variant MELA-AU 5 81285946 81285946 single base substitution T C downstream_gene_variant MELA-AU 5 81285946 81285946 single base substitution T C intron_variant MELA-AU 5 81285990 81285990 single base substitution C T downstream_gene_variant MELA-AU 5 81285990 81285990 single base substitution C T intron_variant MELA-AU 5 81286199 81286199 single base substitution C T downstream_gene_variant MELA-AU 5 81286199 81286199 single base substitution C T intron_variant MELA-AU 5 81287496 81287496 single base substitution C T downstream_gene_variant MELA-AU 5 81287496 81287496 single base substitution C T intron_variant MELA-AU 5 81287768 81287768 single base substitution C T downstream_gene_variant MELA-AU 5 81287768 81287768 single base substitution C T intron_variant MELA-AU 5 81287827 81287827 single base substitution C T downstream_gene_variant MELA-AU 5 81287827 81287827 single base substitution C T intron_variant MELA-AU 5 81287987 81287987 single base substitution T C downstream_gene_variant MELA-AU 5 81287987 81287987 single base substitution T C intron_variant MELA-AU 5 81288923 81288923 single base substitution C A intron_variant MELA-AU 5 81289121 81289121 single base substitution C T intron_variant MELA-AU 5 81289167 81289167 single base substitution T C intron_variant MELA-AU 5 81289213 81289213 single base substitution T C intron_variant MELA-AU 5 81289237 81289237 single base substitution C T intron_variant MELA-AU 5 81289250 81289250 single base substitution C T intron_variant MELA-AU 5 81289262 81289262 single base substitution T G intron_variant MELA-AU 5 81290132 81290132 single base substitution C T intron_variant MELA-AU 5 81290934 81290934 single base substitution C T intron_variant MELA-AU 5 81292138 81292139 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 81292235 81292235 single base substitution T C intron_variant MELA-AU 5 81292533 81292533 single base substitution C T intron_variant MELA-AU 5 81292911 81292911 single base substitution A T intron_variant MELA-AU 5 81293074 81293074 single base substitution C T intron_variant MELA-AU 5 81293169 81293169 single base substitution C T intron_variant MELA-AU 5 81293629 81293629 single base substitution C T intron_variant MELA-AU 5 81293794 81293794 single base substitution C T intron_variant MELA-AU 5 81293797 81293797 single base substitution C T intron_variant MELA-AU 5 81293862 81293862 single base substitution C T intron_variant MELA-AU 5 81293906 81293906 single base substitution C T intron_variant MELA-AU 5 81294010 81294010 single base substitution C T intron_variant MELA-AU 5 81294081 81294081 single base substitution T A intron_variant MELA-AU 5 81294136 81294136 single base substitution C T intron_variant MELA-AU 5 81294432 81294432 single base substitution G C intron_variant MELA-AU 5 81294662 81294662 single base substitution C T intron_variant MELA-AU 5 81294761 81294761 single base substitution G A intron_variant MELA-AU 5 81295556 81295556 single base substitution C T intron_variant MELA-AU 5 81297268 81297268 single base substitution G A intron_variant MELA-AU 5 81297328 81297328 single base substitution A G intron_variant MELA-AU 5 81298388 81298388 single base substitution A C intron_variant MELA-AU 5 81298433 81298433 single base substitution G A intron_variant MELA-AU 5 81299034 81299034 single base substitution C T intron_variant MELA-AU 5 81300282 81300282 single base substitution A T intron_variant MELA-AU 5 81300303 81300303 single base substitution C T intron_variant MELA-AU 5 81300626 81300626 single base substitution C T intron_variant MELA-AU 5 81300780 81300780 single base substitution C T intron_variant MELA-AU 5 81301012 81301012 single base substitution T C intron_variant MELA-AU 5 81301134 81301134 single base substitution G A intron_variant MELA-AU 5 81301223 81301223 single base substitution C T intron_variant MELA-AU 5 81301239 81301239 single base substitution G A intron_variant MELA-AU 5 81301798 81301798 single base substitution A T intron_variant MELA-AU 5 81301881 81301881 single base substitution C T intron_variant MELA-AU 5 81302047 81302047 single base substitution C T intron_variant MELA-AU 5 81302577 81302578 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 81303446 81303446 single base substitution A C intron_variant MELA-AU 5 81303564 81303564 single base substitution G A intron_variant MELA-AU 5 81303865 81303865 single base substitution T C intron_variant MELA-AU 5 81303905 81303905 single base substitution C T intron_variant MELA-AU 5 81303954 81303954 single base substitution G A intron_variant MELA-AU 5 81304373 81304373 single base substitution A G intron_variant MELA-AU 5 81304891 81304891 single base substitution C T intron_variant MELA-AU 5 81305025 81305025 single base substitution C G intron_variant MELA-AU 5 81305670 81305670 single base substitution C T intron_variant MELA-AU 5 81306125 81306125 single base substitution C T intron_variant MELA-AU 5 81306252 81306252 single base substitution C T intron_variant MELA-AU 5 81306267 81306267 single base substitution T C intron_variant MELA-AU 5 81306275 81306275 single base substitution C T intron_variant MELA-AU 5 81306424 81306424 single base substitution T C intron_variant MELA-AU 5 81306505 81306505 single base substitution T C intron_variant MELA-AU 5 81306734 81306734 single base substitution C T intron_variant MELA-AU 5 81307172 81307172 single base substitution C T intron_variant MELA-AU 5 81307868 81307868 single base substitution C T intron_variant MELA-AU 5 81308148 81308148 single base substitution C T intron_variant MELA-AU 5 81308214 81308214 single base substitution C T intron_variant MELA-AU 5 81308454 81308454 single base substitution G A intron_variant MELA-AU 5 81308523 81308523 single base substitution T C intron_variant MELA-AU 5 81308762 81308762 single base substitution C T intron_variant MELA-AU 5 81309586 81309586 single base substitution A G intron_variant MELA-AU 5 81309641 81309641 single base substitution C T intron_variant MELA-AU 5 81309825 81309825 single base substitution C T intron_variant MELA-AU 5 81310325 81310325 single base substitution G A intron_variant MELA-AU 5 81310385 81310385 single base substitution C T intron_variant MELA-AU 5 81310490 81310490 single base substitution C T intron_variant MELA-AU 5 81310491 81310491 single base substitution C T intron_variant MELA-AU 5 81310598 81310598 single base substitution C T intron_variant MELA-AU 5 81310892 81310892 single base substitution C T intron_variant MELA-AU 5 81311215 81311215 single base substitution C T intron_variant MELA-AU 5 81311340 81311340 single base substitution C T intron_variant MELA-AU 5 81311472 81311472 single base substitution C T intron_variant MELA-AU 5 81311759 81311759 single base substitution C T intron_variant MELA-AU 5 81312707 81312707 single base substitution C T intron_variant MELA-AU 5 81313744 81313744 single base substitution C T intron_variant MELA-AU 5 81314852 81314852 single base substitution T C intron_variant MELA-AU 5 81314892 81314892 single base substitution A C intron_variant MELA-AU 5 81314920 81314920 single base substitution C T intron_variant MELA-AU 5 81315552 81315552 single base substitution C A intron_variant MELA-AU 5 81315737 81315737 single base substitution G A intron_variant MELA-AU 5 81315991 81315991 single base substitution C T intron_variant MELA-AU 5 81316795 81316795 single base substitution C T intron_variant MELA-AU 5 81316963 81316963 single base substitution C T intron_variant MELA-AU 5 81316963 81316964 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 81318043 81318043 single base substitution C T intron_variant MELA-AU 5 81318087 81318087 single base substitution C T intron_variant MELA-AU 5 81318549 81318549 single base substitution C A intron_variant MELA-AU 5 81319650 81319650 single base substitution C T intron_variant MELA-AU 5 81319764 81319764 single base substitution C T intron_variant MELA-AU 5 81320247 81320247 single base substitution G A intron_variant MELA-AU 5 81320692 81320692 single base substitution A T intron_variant MELA-AU 5 81321545 81321546 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 81322151 81322151 single base substitution C T intron_variant MELA-AU 5 81322523 81322523 single base substitution C T intron_variant MELA-AU 5 81322675 81322675 single base substitution C T intron_variant MELA-AU 5 81322901 81322901 single base substitution A G intron_variant MELA-AU 5 81322905 81322905 single base substitution A G intron_variant MELA-AU 5 81323522 81323522 single base substitution C T intron_variant MELA-AU 5 81323812 81323812 single base substitution T G intron_variant MELA-AU 5 81323814 81323814 single base substitution C A intron_variant MELA-AU 5 81325728 81325728 single base substitution C T intron_variant MELA-AU 5 81326260 81326260 single base substitution C T intron_variant MELA-AU 5 81326538 81326538 single base substitution C T intron_variant MELA-AU 5 81326858 81326858 single base substitution C T intron_variant MELA-AU 5 81326884 81326884 single base substitution C T intron_variant MELA-AU 5 81328700 81328700 single base substitution G A intron_variant MELA-AU 5 81328864 81328864 single base substitution C T intron_variant MELA-AU 5 81328893 81328893 single base substitution C T intron_variant MELA-AU 5 81329344 81329344 single base substitution C T intron_variant MELA-AU 5 81329916 81329916 single base substitution G A intron_variant MELA-AU 5 81329960 81329960 single base substitution T C intron_variant MELA-AU 5 81330733 81330733 single base substitution C T intron_variant MELA-AU 5 81330892 81330892 single base substitution G A intron_variant MELA-AU 5 81331424 81331424 single base substitution C T intron_variant MELA-AU 5 81331752 81331752 single base substitution C T intron_variant MELA-AU 5 81331883 81331883 single base substitution A G intron_variant MELA-AU 5 81332005 81332005 single base substitution C T intron_variant MELA-AU 5 81332662 81332662 single base substitution C T intron_variant MELA-AU 5 81332706 81332706 single base substitution C T intron_variant MELA-AU 5 81332977 81332977 single base substitution C T intron_variant MELA-AU 5 81333373 81333373 single base substitution C T intron_variant MELA-AU 5 81333849 81333849 single base substitution C T intron_variant MELA-AU 5 81334249 81334249 single base substitution C T intron_variant MELA-AU 5 81334431 81334431 single base substitution G A intron_variant MELA-AU 5 81334951 81334951 single base substitution C T intron_variant MELA-AU 5 81335183 81335183 single base substitution T A intron_variant MELA-AU 5 81335264 81335264 single base substitution C T intron_variant MELA-AU 5 81336796 81336796 single base substitution T A intron_variant MELA-AU 5 81337018 81337018 single base substitution C T intron_variant MELA-AU 5 81338194 81338194 single base substitution T C intron_variant MELA-AU 5 81338203 81338203 single base substitution C T intron_variant MELA-AU 5 81338207 81338207 single base substitution C T intron_variant MELA-AU 5 81338330 81338330 single base substitution C T intron_variant MELA-AU 5 81339183 81339183 single base substitution C T intron_variant MELA-AU 5 81339206 81339206 single base substitution C T intron_variant MELA-AU 5 81339953 81339953 single base substitution G A intron_variant MELA-AU 5 81340067 81340067 single base substitution C T intron_variant MELA-AU 5 81340139 81340139 single base substitution C T intron_variant MELA-AU 5 81340173 81340173 single base substitution C T intron_variant MELA-AU 5 81340415 81340415 single base substitution C T intron_variant MELA-AU 5 81342469 81342469 single base substitution C T intron_variant MELA-AU 5 81342938 81342938 single base substitution A C intron_variant MELA-AU 5 81343323 81343323 single base substitution T A intron_variant MELA-AU 5 81343575 81343575 single base substitution G A intron_variant MELA-AU 5 81343682 81343682 single base substitution A C intron_variant MELA-AU 5 81343692 81343692 single base substitution C G intron_variant MELA-AU 5 81343769 81343769 single base substitution C T intron_variant MELA-AU 5 81344277 81344277 single base substitution G C intron_variant MELA-AU 5 81345832 81345832 single base substitution C T intron_variant MELA-AU 5 81345836 81345836 single base substitution C T intron_variant MELA-AU 5 81346296 81346296 single base substitution C T intron_variant MELA-AU 5 81346301 81346301 single base substitution C T intron_variant MELA-AU 5 81347461 81347461 single base substitution A C intron_variant MELA-AU 5 81347638 81347638 single base substitution T C intron_variant MELA-AU 5 81347726 81347726 single base substitution C A intron_variant MELA-AU 5 81348911 81348911 single base substitution C A intron_variant MELA-AU 5 81349098 81349098 single base substitution C T intron_variant MELA-AU 5 81349724 81349724 single base substitution C T intron_variant MELA-AU 5 81349798 81349798 single base substitution C T intron_variant MELA-AU 5 81351928 81351928 single base substitution C T intron_variant MELA-AU 5 81352260 81352260 single base substitution T G intron_variant MELA-AU 5 81352418 81352418 single base substitution C T intron_variant MELA-AU 5 81352738 81352738 single base substitution G A intron_variant MELA-AU 5 81352851 81352851 single base substitution T C intron_variant MELA-AU 5 81354601 81354601 single base substitution C T intron_variant MELA-AU 5 81354618 81354618 single base substitution C T intron_variant MELA-AU 5 81354822 81354822 single base substitution C T intron_variant MELA-AU 5 81355014 81355014 single base substitution G A intron_variant MELA-AU 5 81355483 81355483 single base substitution G T intron_variant MELA-AU 5 81355660 81355660 single base substitution C T intron_variant MELA-AU 5 81356007 81356007 single base substitution C T intron_variant MELA-AU 5 81356455 81356455 single base substitution G A intron_variant MELA-AU 5 81356634 81356634 single base substitution T C intron_variant MELA-AU 5 81356757 81356757 single base substitution A C intron_variant MELA-AU 5 81356859 81356859 single base substitution C T intron_variant MELA-AU 5 81356964 81356964 single base substitution C T intron_variant MELA-AU 5 81357054 81357054 single base substitution C T intron_variant MELA-AU 5 81357055 81357055 single base substitution T C intron_variant MELA-AU 5 81357135 81357135 single base substitution C T intron_variant MELA-AU 5 81357874 81357874 single base substitution C T intron_variant MELA-AU 5 81358021 81358021 single base substitution C T intron_variant MELA-AU 5 81358674 81358674 single base substitution C T intron_variant MELA-AU 5 81358761 81358761 single base substitution C T intron_variant MELA-AU 5 81358885 81358885 single base substitution C T intron_variant MELA-AU 5 81358941 81358941 single base substitution C T intron_variant MELA-AU 5 81361685 81361685 single base substitution G A intron_variant MELA-AU 5 81362023 81362023 single base substitution C T intron_variant MELA-AU 5 81362438 81362438 single base substitution C T intron_variant MELA-AU 5 81363175 81363175 single base substitution A G intron_variant MELA-AU 5 81363253 81363253 single base substitution A T intron_variant MELA-AU 5 81363467 81363467 single base substitution C T intron_variant MELA-AU 5 81363912 81363912 single base substitution C T intron_variant MELA-AU 5 81364655 81364655 single base substitution T C intron_variant MELA-AU 5 81364772 81364772 single base substitution C T intron_variant MELA-AU 5 81365546 81365546 single base substitution A T intron_variant MELA-AU 5 81366518 81366518 single base substitution C T intron_variant MELA-AU 5 81366700 81366700 single base substitution G A intron_variant MELA-AU 5 81367059 81367059 single base substitution C T intron_variant MELA-AU 5 81367387 81367387 single base substitution G A intron_variant MELA-AU 5 81367878 81367878 single base substitution G A intron_variant MELA-AU 5 81368066 81368066 single base substitution C T intron_variant MELA-AU 5 81368216 81368216 single base substitution T C intron_variant MELA-AU 5 81368287 81368287 single base substitution C T intron_variant MELA-AU 5 81369036 81369036 single base substitution C T intron_variant MELA-AU 5 81369231 81369231 single base substitution T A intron_variant MELA-AU 5 81369288 81369288 single base substitution C T intron_variant MELA-AU 5 81369682 81369682 single base substitution T A intron_variant MELA-AU 5 81370089 81370089 deletion of <=200bp T - intron_variant MELA-AU 5 81370124 81370124 single base substitution C G intron_variant MELA-AU 5 81370151 81370151 single base substitution G A intron_variant MELA-AU 5 81371810 81371810 single base substitution G A intron_variant MELA-AU 5 81371900 81371900 single base substitution C T intron_variant MELA-AU 5 81372341 81372341 single base substitution C T intron_variant MELA-AU 5 81372996 81372996 single base substitution G A intron_variant MELA-AU 5 81373399 81373399 single base substitution T A intron_variant MELA-AU 5 81374153 81374153 single base substitution C T intron_variant MELA-AU 5 81374698 81374698 single base substitution G A intron_variant MELA-AU 5 81374902 81374902 single base substitution A G intron_variant MELA-AU 5 81374942 81374942 single base substitution C T intron_variant MELA-AU 5 81375330 81375330 single base substitution C T intron_variant MELA-AU 5 81375684 81375684 single base substitution C A intron_variant MELA-AU 5 81375712 81375712 single base substitution G A intron_variant MELA-AU 5 81376517 81376517 single base substitution C T intron_variant MELA-AU 5 81376705 81376705 single base substitution C T intron_variant MELA-AU 5 81377142 81377142 single base substitution C T intron_variant MELA-AU 5 81377543 81377543 single base substitution G A intron_variant MELA-AU 5 81377850 81377850 single base substitution G C intron_variant MELA-AU 5 81378034 81378034 single base substitution C T intron_variant MELA-AU 5 81378038 81378038 single base substitution C T intron_variant MELA-AU 5 81378514 81378514 single base substitution T C intron_variant MELA-AU 5 81378690 81378690 single base substitution G A intron_variant MELA-AU 5 81379036 81379037 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 81379151 81379151 single base substitution G A intron_variant MELA-AU 5 81379322 81379322 single base substitution T C intron_variant MELA-AU 5 81379362 81379362 single base substitution C T intron_variant MELA-AU 5 81379910 81379910 single base substitution T G intron_variant MELA-AU 5 81380097 81380097 single base substitution G A intron_variant MELA-AU 5 81380236 81380236 single base substitution T C intron_variant MELA-AU 5 81380473 81380473 single base substitution C T intron_variant MELA-AU 5 81380541 81380541 single base substitution C T intron_variant MELA-AU 5 81381350 81381350 single base substitution C T intron_variant MELA-AU 5 81381519 81381519 single base substitution A T intron_variant MELA-AU 5 81382152 81382152 single base substitution A G intron_variant MELA-AU 5 81382672 81382672 single base substitution C T intron_variant MELA-AU 5 81382819 81382819 single base substitution C T intron_variant MELA-AU 5 81382842 81382842 single base substitution C T intron_variant MELA-AU 5 81382867 81382867 single base substitution C T intron_variant MELA-AU 5 81383741 81383741 single base substitution C T intron_variant MELA-AU 5 81384422 81384422 single base substitution C T intron_variant MELA-AU 5 81384597 81384597 single base substitution A T intron_variant MELA-AU 5 81384707 81384707 single base substitution C T intron_variant MELA-AU 5 81385635 81385635 single base substitution G A intron_variant MELA-AU 5 81386174 81386174 single base substitution A C intron_variant MELA-AU 5 81386348 81386348 single base substitution C T intron_variant MELA-AU 5 81387122 81387122 single base substitution C T intron_variant MELA-AU 5 81387189 81387189 single base substitution T C intron_variant MELA-AU 5 81387349 81387349 single base substitution T C intron_variant MELA-AU 5 81387531 81387531 single base substitution C T intron_variant MELA-AU 5 81387907 81387907 single base substitution C T intron_variant MELA-AU 5 81387961 81387961 single base substitution G A intron_variant MELA-AU 5 81388302 81388302 single base substitution G T intron_variant MELA-AU 5 81388603 81388603 single base substitution C T intron_variant MELA-AU 5 81388816 81388816 single base substitution C T intron_variant MELA-AU 5 81388949 81388949 single base substitution C T intron_variant MELA-AU 5 81389106 81389106 single base substitution C T intron_variant MELA-AU 5 81389146 81389146 single base substitution C T intron_variant MELA-AU 5 81389170 81389170 single base substitution T C intron_variant MELA-AU 5 81389273 81389273 single base substitution C T intron_variant MELA-AU 5 81389554 81389554 single base substitution C T intron_variant MELA-AU 5 81389616 81389616 single base substitution C T intron_variant MELA-AU 5 81389663 81389663 single base substitution C T intron_variant MELA-AU 5 81390092 81390092 single base substitution A T intron_variant MELA-AU 5 81390308 81390308 single base substitution C T intron_variant MELA-AU 5 81390583 81390583 single base substitution C T intron_variant MELA-AU 5 81390641 81390641 single base substitution C T intron_variant MELA-AU 5 81390796 81390797 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 81391039 81391040 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 81392054 81392054 single base substitution C T intron_variant MELA-AU 5 81392152 81392152 single base substitution A G intron_variant MELA-AU 5 81392264 81392264 single base substitution T A intron_variant MELA-AU 5 81392443 81392443 single base substitution G A intron_variant MELA-AU 5 81392611 81392611 single base substitution C T intron_variant MELA-AU 5 81392672 81392672 single base substitution C T intron_variant MELA-AU 5 81392731 81392731 single base substitution T A intron_variant MELA-AU 5 81392765 81392765 single base substitution G A intron_variant MELA-AU 5 81392906 81392906 single base substitution C T intron_variant MELA-AU 5 81393722 81393722 single base substitution A T intron_variant MELA-AU 5 81393810 81393810 single base substitution C T intron_variant MELA-AU 5 81393986 81393986 single base substitution T C intron_variant MELA-AU 5 81394161 81394161 single base substitution C T intron_variant MELA-AU 5 81394290 81394290 single base substitution C T intron_variant MELA-AU 5 81394417 81394417 single base substitution C T intron_variant MELA-AU 5 81394509 81394509 single base substitution C T intron_variant MELA-AU 5 81395101 81395101 single base substitution G C intron_variant MELA-AU 5 81395437 81395437 single base substitution A T intron_variant MELA-AU 5 81395460 81395460 single base substitution C T intron_variant MELA-AU 5 81395462 81395462 single base substitution C T intron_variant MELA-AU 5 81395660 81395660 single base substitution A G intron_variant MELA-AU 5 81395804 81395804 single base substitution T A intron_variant MELA-AU 5 81396081 81396081 single base substitution C T intron_variant MELA-AU 5 81396718 81396718 single base substitution C T intron_variant MELA-AU 5 81396916 81396916 single base substitution C T intron_variant MELA-AU 5 81397213 81397213 single base substitution C T intron_variant MELA-AU 5 81397519 81397519 single base substitution C G intron_variant MELA-AU 5 81398577 81398577 single base substitution A C intron_variant MELA-AU 5 81398771 81398771 single base substitution G C intron_variant MELA-AU 5 81398802 81398802 single base substitution A G intron_variant MELA-AU 5 81399145 81399145 single base substitution C T intron_variant MELA-AU 5 81399447 81399447 single base substitution C T intron_variant MELA-AU 5 81399491 81399491 single base substitution G A intron_variant MELA-AU 5 81399655 81399655 single base substitution G A intron_variant MELA-AU 5 81399817 81399817 single base substitution C T intron_variant MELA-AU 5 81400009 81400009 single base substitution C T intron_variant MELA-AU 5 81400376 81400376 single base substitution G A intron_variant MELA-AU 5 81400900 81400900 single base substitution G A intron_variant MELA-AU 5 81400923 81400923 single base substitution C T intron_variant MELA-AU 5 81401119 81401119 single base substitution G A intron_variant MELA-AU 5 81401856 81401856 single base substitution C T intron_variant MELA-AU 5 81402380 81402380 single base substitution T A intron_variant MELA-AU 5 81402380 81402380 single base substitution T A upstream_gene_variant MELA-AU 5 81404246 81404246 single base substitution T C intron_variant MELA-AU 5 81404246 81404246 single base substitution T C upstream_gene_variant MELA-AU 5 81404959 81404959 single base substitution C T intron_variant MELA-AU 5 81404959 81404959 single base substitution C T upstream_gene_variant MELA-AU 5 81405002 81405002 single base substitution T C intron_variant MELA-AU 5 81405002 81405002 single base substitution T C upstream_gene_variant MELA-AU 5 81405031 81405031 single base substitution C T intron_variant MELA-AU 5 81405031 81405031 single base substitution C T upstream_gene_variant MELA-AU 5 81405067 81405067 single base substitution G A intron_variant MELA-AU 5 81405067 81405067 single base substitution G A upstream_gene_variant MELA-AU 5 81405432 81405432 single base substitution G A intron_variant MELA-AU 5 81405432 81405432 single base substitution G A upstream_gene_variant MELA-AU 5 81405569 81405569 single base substitution C T intron_variant MELA-AU 5 81405569 81405569 single base substitution C T upstream_gene_variant MELA-AU 5 81405627 81405627 single base substitution A G intron_variant MELA-AU 5 81405627 81405627 single base substitution A G upstream_gene_variant MELA-AU 5 81405720 81405720 single base substitution C T intron_variant MELA-AU 5 81405720 81405720 single base substitution C T upstream_gene_variant MELA-AU 5 81405767 81405767 single base substitution C T intron_variant MELA-AU 5 81405767 81405767 single base substitution C T upstream_gene_variant MELA-AU 5 81406034 81406034 single base substitution T C intron_variant MELA-AU 5 81406034 81406034 single base substitution T C upstream_gene_variant MELA-AU 5 81406696 81406696 single base substitution T C intron_variant MELA-AU 5 81406696 81406696 single base substitution T C upstream_gene_variant MELA-AU 5 81406921 81406921 single base substitution T C intron_variant MELA-AU 5 81406921 81406921 single base substitution T C upstream_gene_variant MELA-AU 5 81407871 81407871 single base substitution C T intron_variant MELA-AU 5 81408022 81408022 single base substitution G A intron_variant MELA-AU 5 81408051 81408051 single base substitution C T intron_variant MELA-AU 5 81408116 81408116 single base substitution T C intron_variant MELA-AU 5 81409132 81409132 single base substitution A G intron_variant MELA-AU 5 81409442 81409442 single base substitution C T intron_variant MELA-AU 5 81409556 81409556 single base substitution T C intron_variant MELA-AU 5 81409652 81409653 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 81409823 81409823 single base substitution C T intron_variant MELA-AU 5 81409844 81409844 single base substitution C T intron_variant MELA-AU 5 81409894 81409894 single base substitution C T intron_variant MELA-AU 5 81409906 81409906 single base substitution G A intron_variant MELA-AU 5 81411336 81411336 single base substitution C T intron_variant MELA-AU 5 81411399 81411399 single base substitution G A intron_variant MELA-AU 5 81411532 81411532 single base substitution C T intron_variant MELA-AU 5 81411592 81411592 single base substitution A T intron_variant MELA-AU 5 81411980 81411980 single base substitution G A intron_variant MELA-AU 5 81412041 81412041 single base substitution C T intron_variant MELA-AU 5 81412166 81412167 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 5 81412544 81412544 single base substitution C T intron_variant MELA-AU 5 81413162 81413162 single base substitution C T intron_variant MELA-AU 5 81413220 81413220 single base substitution A T intron_variant MELA-AU 5 81413667 81413667 single base substitution G A intron_variant MELA-AU 5 81413867 81413867 single base substitution G A intron_variant MELA-AU 5 81413965 81413965 deletion of <=200bp T - intron_variant MELA-AU 5 81414096 81414096 single base substitution C T intron_variant MELA-AU 5 81414238 81414238 single base substitution C T intron_variant MELA-AU 5 81414839 81414839 single base substitution C T intron_variant MELA-AU 5 81415290 81415290 single base substitution C T intron_variant MELA-AU 5 81415754 81415754 single base substitution G A intron_variant MELA-AU 5 81416110 81416110 single base substitution C T intron_variant MELA-AU 5 81416371 81416371 single base substitution A G intron_variant MELA-AU 5 81416476 81416476 single base substitution C T intron_variant MELA-AU 5 81416479 81416479 single base substitution T C intron_variant MELA-AU 5 81416669 81416669 single base substitution C T intron_variant MELA-AU 5 81417455 81417455 single base substitution C T intron_variant MELA-AU 5 81417710 81417710 single base substitution G A intron_variant MELA-AU 5 81418177 81418177 single base substitution C T intron_variant MELA-AU 5 81418635 81418635 single base substitution C T intron_variant MELA-AU 5 81418775 81418775 single base substitution C T intron_variant MELA-AU 5 81418941 81418941 single base substitution A G intron_variant MELA-AU 5 81419522 81419522 single base substitution G A intron_variant MELA-AU 5 81419607 81419607 single base substitution T C intron_variant MELA-AU 5 81419687 81419687 single base substitution C T intron_variant MELA-AU 5 81419876 81419876 single base substitution C T intron_variant MELA-AU 5 81420412 81420412 single base substitution C T intron_variant MELA-AU 5 81420429 81420429 single base substitution C T intron_variant MELA-AU 5 81420704 81420704 single base substitution T A intron_variant MELA-AU 5 81421238 81421238 single base substitution G A intron_variant MELA-AU 5 81421357 81421357 single base substitution C T intron_variant MELA-AU 5 81421769 81421769 single base substitution C T intron_variant MELA-AU 5 81421794 81421794 single base substitution C T intron_variant MELA-AU 5 81422948 81422948 single base substitution C T intron_variant MELA-AU 5 81423062 81423062 single base substitution C T intron_variant MELA-AU 5 81423530 81423530 single base substitution G A intron_variant MELA-AU 5 81423846 81423846 single base substitution C T intron_variant MELA-AU 5 81423976 81423976 single base substitution C T intron_variant MELA-AU 5 81424253 81424253 single base substitution C T intron_variant MELA-AU 5 81424458 81424458 single base substitution G A intron_variant MELA-AU 5 81424839 81424839 single base substitution C T intron_variant MELA-AU 5 81424869 81424869 single base substitution C T intron_variant MELA-AU 5 81425115 81425115 single base substitution C T intron_variant MELA-AU 5 81425171 81425171 single base substitution C T intron_variant MELA-AU 5 81425311 81425311 single base substitution G T intron_variant MELA-AU 5 81425334 81425334 single base substitution G A intron_variant MELA-AU 5 81425335 81425335 single base substitution G A intron_variant MELA-AU 5 81425385 81425385 single base substitution T A intron_variant MELA-AU 5 81425670 81425670 single base substitution C T intron_variant MELA-AU 5 81425933 81425933 single base substitution T A intron_variant MELA-AU 5 81426017 81426017 single base substitution G A intron_variant MELA-AU 5 81426965 81426965 single base substitution C T intron_variant MELA-AU 5 81428089 81428089 single base substitution T A intron_variant MELA-AU 5 81428192 81428192 single base substitution A G intron_variant MELA-AU 5 81428228 81428228 single base substitution C T intron_variant MELA-AU 5 81428246 81428246 single base substitution C T intron_variant MELA-AU 5 81428463 81428463 single base substitution C T intron_variant MELA-AU 5 81428669 81428669 single base substitution C T intron_variant MELA-AU 5 81428727 81428727 single base substitution C T intron_variant MELA-AU 5 81428997 81428997 single base substitution C T intron_variant MELA-AU 5 81429199 81429199 single base substitution C T intron_variant MELA-AU 5 81429306 81429306 single base substitution C T intron_variant MELA-AU 5 81429540 81429540 single base substitution C T intron_variant MELA-AU 5 81429638 81429638 single base substitution C T intron_variant MELA-AU 5 81429736 81429737 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 81429737 81429737 single base substitution C T intron_variant MELA-AU 5 81431295 81431295 single base substitution C T intron_variant MELA-AU 5 81431555 81431555 single base substitution C T intron_variant MELA-AU 5 81431582 81431582 single base substitution C T intron_variant MELA-AU 5 81431644 81431644 single base substitution A G intron_variant MELA-AU 5 81431747 81431747 single base substitution G A intron_variant MELA-AU 5 81432372 81432372 single base substitution C G intron_variant MELA-AU 5 81432640 81432640 single base substitution C T intron_variant MELA-AU 5 81432658 81432658 single base substitution C T intron_variant MELA-AU 5 81433014 81433014 single base substitution T A intron_variant MELA-AU 5 81433441 81433441 single base substitution C T intron_variant MELA-AU 5 81433464 81433464 single base substitution C T intron_variant MELA-AU 5 81433481 81433481 single base substitution G A intron_variant MELA-AU 5 81433724 81433724 single base substitution C T intron_variant MELA-AU 5 81433889 81433889 single base substitution C T intron_variant MELA-AU 5 81433953 81433953 single base substitution C T intron_variant MELA-AU 5 81434124 81434124 single base substitution C T intron_variant MELA-AU 5 81434201 81434201 single base substitution C T intron_variant MELA-AU 5 81434312 81434312 single base substitution C T intron_variant MELA-AU 5 81435923 81435923 single base substitution G A intron_variant MELA-AU 5 81437278 81437278 single base substitution C T intron_variant MELA-AU 5 81437692 81437693 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 5 81437742 81437742 single base substitution G A intron_variant MELA-AU 5 81438087 81438087 single base substitution C T intron_variant MELA-AU 5 81439057 81439057 single base substitution G A intron_variant MELA-AU 5 81439344 81439344 single base substitution A T intron_variant MELA-AU 5 81439564 81439564 single base substitution G A intron_variant MELA-AU 5 81439889 81439889 single base substitution C T intron_variant MELA-AU 5 81439907 81439907 single base substitution C T intron_variant MELA-AU 5 81439938 81439938 single base substitution A C intron_variant MELA-AU 5 81440280 81440280 single base substitution C T intron_variant MELA-AU 5 81440309 81440309 single base substitution T A intron_variant MELA-AU 5 81440742 81440742 single base substitution C T intron_variant MELA-AU 5 81441078 81441078 single base substitution T G intron_variant MELA-AU 5 81442203 81442203 single base substitution A C intron_variant MELA-AU 5 81442266 81442266 single base substitution G A intron_variant MELA-AU 5 81442352 81442352 single base substitution C T intron_variant MELA-AU 5 81442433 81442433 single base substitution T C intron_variant MELA-AU 5 81442578 81442578 single base substitution C T intron_variant MELA-AU 5 81444156 81444156 single base substitution C T downstream_gene_variant MELA-AU 5 81444156 81444156 single base substitution C T intron_variant MELA-AU 5 81444254 81444254 single base substitution C T downstream_gene_variant MELA-AU 5 81444254 81444254 single base substitution C T intron_variant MELA-AU 5 81445025 81445025 single base substitution G A downstream_gene_variant MELA-AU 5 81445025 81445025 single base substitution G A intron_variant MELA-AU 5 81445147 81445147 single base substitution C T downstream_gene_variant MELA-AU 5 81445147 81445147 single base substitution C T intron_variant MELA-AU 5 81445148 81445148 single base substitution C T downstream_gene_variant MELA-AU 5 81445148 81445148 single base substitution C T intron_variant MELA-AU 5 81445678 81445678 single base substitution G A downstream_gene_variant MELA-AU 5 81445678 81445678 single base substitution G A intron_variant MELA-AU 5 81446564 81446564 single base substitution G A downstream_gene_variant MELA-AU 5 81446564 81446564 single base substitution G A intron_variant MELA-AU 5 81447129 81447129 single base substitution C T downstream_gene_variant MELA-AU 5 81447129 81447129 single base substitution C T intron_variant MELA-AU 5 81447735 81447735 single base substitution C T downstream_gene_variant MELA-AU 5 81447735 81447735 single base substitution C T intron_variant MELA-AU 5 81448791 81448791 single base substitution G A downstream_gene_variant MELA-AU 5 81448791 81448791 single base substitution G A intron_variant MELA-AU 5 81449362 81449362 single base substitution C A intron_variant MELA-AU 5 81449371 81449371 single base substitution C T intron_variant MELA-AU 5 81449495 81449495 single base substitution T C intron_variant MELA-AU 5 81450298 81450298 single base substitution C T intron_variant MELA-AU 5 81451503 81451503 single base substitution A G intron_variant MELA-AU 5 81451964 81451964 single base substitution G A intron_variant MELA-AU 5 81452041 81452041 single base substitution C T intron_variant MELA-AU 5 81452372 81452372 single base substitution C T intron_variant MELA-AU 5 81452969 81452969 single base substitution C T intron_variant MELA-AU 5 81452983 81452983 single base substitution C T intron_variant MELA-AU 5 81453909 81453909 single base substitution C T intron_variant MELA-AU 5 81453910 81453910 single base substitution C T intron_variant MELA-AU 5 81454173 81454173 single base substitution C T intron_variant MELA-AU 5 81454175 81454175 single base substitution G A intron_variant MELA-AU 5 81454434 81454434 single base substitution G A intron_variant MELA-AU 5 81454507 81454507 single base substitution A G intron_variant MELA-AU 5 81454516 81454516 single base substitution C T intron_variant MELA-AU 5 81455644 81455644 single base substitution T A intron_variant MELA-AU 5 81455644 81455644 single base substitution T A upstream_gene_variant MELA-AU 5 81456300 81456300 single base substitution C T intron_variant MELA-AU 5 81456300 81456300 single base substitution C T upstream_gene_variant MELA-AU 5 81456337 81456337 single base substitution G A intron_variant MELA-AU 5 81456337 81456337 single base substitution G A upstream_gene_variant MELA-AU 5 81456350 81456350 single base substitution C T intron_variant MELA-AU 5 81456350 81456350 single base substitution C T upstream_gene_variant MELA-AU 5 81457098 81457098 single base substitution A T intron_variant MELA-AU 5 81457098 81457098 single base substitution A T upstream_gene_variant MELA-AU 5 81457132 81457132 single base substitution A C intron_variant MELA-AU 5 81457132 81457132 single base substitution A C upstream_gene_variant MELA-AU 5 81457179 81457179 single base substitution C T intron_variant MELA-AU 5 81457179 81457179 single base substitution C T upstream_gene_variant MELA-AU 5 81457222 81457222 single base substitution T C intron_variant MELA-AU 5 81457222 81457222 single base substitution T C upstream_gene_variant MELA-AU 5 81457946 81457946 single base substitution G A intron_variant MELA-AU 5 81457946 81457946 single base substitution G A upstream_gene_variant MELA-AU 5 81458176 81458176 single base substitution C T intron_variant MELA-AU 5 81458176 81458176 single base substitution C T upstream_gene_variant MELA-AU 5 81458289 81458289 single base substitution G A intron_variant MELA-AU 5 81458289 81458289 single base substitution G A upstream_gene_variant MELA-AU 5 81458387 81458387 single base substitution G A intron_variant MELA-AU 5 81458387 81458387 single base substitution G A upstream_gene_variant MELA-AU 5 81459066 81459066 single base substitution C T intron_variant MELA-AU 5 81459066 81459066 single base substitution C T upstream_gene_variant MELA-AU 5 81459275 81459275 single base substitution C T intron_variant MELA-AU 5 81459275 81459275 single base substitution C T upstream_gene_variant MELA-AU 5 81459300 81459300 single base substitution C T intron_variant MELA-AU 5 81459300 81459300 single base substitution C T upstream_gene_variant MELA-AU 5 81459307 81459307 single base substitution T C intron_variant MELA-AU 5 81459307 81459307 single base substitution T C upstream_gene_variant MELA-AU 5 81459963 81459963 single base substitution C T intron_variant MELA-AU 5 81459963 81459963 single base substitution C T upstream_gene_variant MELA-AU 5 81460156 81460156 single base substitution C T intron_variant MELA-AU 5 81460156 81460156 single base substitution C T upstream_gene_variant MELA-AU 5 81460995 81460995 single base substitution C T intron_variant MELA-AU 5 81461707 81461707 single base substitution G A intron_variant MELA-AU 5 81462222 81462222 single base substitution C T intron_variant MELA-AU 5 81462423 81462423 single base substitution C T intron_variant MELA-AU 5 81462432 81462432 single base substitution C T intron_variant MELA-AU 5 81462454 81462454 single base substitution C T intron_variant MELA-AU 5 81462548 81462548 single base substitution C T intron_variant MELA-AU 5 81462551 81462551 single base substitution C T intron_variant MELA-AU 5 81466084 81466084 single base substitution C T intron_variant MELA-AU 5 81466124 81466124 single base substitution G A intron_variant MELA-AU 5 81466155 81466155 single base substitution T G intron_variant MELA-AU 5 81466885 81466885 single base substitution G A intron_variant MELA-AU 5 81467248 81467248 single base substitution C T intron_variant MELA-AU 5 81467562 81467562 single base substitution C T intron_variant MELA-AU 5 81467828 81467828 single base substitution G A intron_variant MELA-AU 5 81468758 81468758 single base substitution G A intron_variant MELA-AU 5 81468765 81468765 single base substitution C T intron_variant MELA-AU 5 81468767 81468767 single base substitution C T intron_variant MELA-AU 5 81468887 81468887 single base substitution C A intron_variant MELA-AU 5 81469385 81469385 single base substitution T C intron_variant MELA-AU 5 81470149 81470149 single base substitution A T intron_variant MELA-AU 5 81470190 81470190 single base substitution G A intron_variant MELA-AU 5 81470629 81470629 single base substitution A G intron_variant MELA-AU 5 81471258 81471258 single base substitution C T intron_variant MELA-AU 5 81471469 81471469 single base substitution C T intron_variant MELA-AU 5 81471644 81471644 single base substitution C T intron_variant MELA-AU 5 81471867 81471867 single base substitution C T intron_variant MELA-AU 5 81472185 81472185 single base substitution C T intron_variant MELA-AU 5 81472359 81472359 single base substitution T C intron_variant MELA-AU 5 81473220 81473220 single base substitution C T intron_variant MELA-AU 5 81473406 81473406 single base substitution C T intron_variant MELA-AU 5 81473919 81473919 single base substitution T G intron_variant MELA-AU 5 81474312 81474312 single base substitution G A exon_variant MELA-AU 5 81474312 81474312 single base substitution G A missense_variant G120E 359G>A MELA-AU 5 81474481 81474481 single base substitution C T intron_variant MELA-AU 5 81474571 81474571 single base substitution C T intron_variant MELA-AU 5 81474710 81474710 single base substitution C T intron_variant MELA-AU 5 81474784 81474784 single base substitution C T intron_variant MELA-AU 5 81475531 81475531 single base substitution C T intron_variant MELA-AU 5 81475885 81475885 single base substitution C T intron_variant MELA-AU 5 81476029 81476029 single base substitution C T intron_variant MELA-AU 5 81476901 81476901 single base substitution C T intron_variant MELA-AU 5 81477041 81477041 single base substitution C T intron_variant MELA-AU 5 81477222 81477222 single base substitution C T intron_variant MELA-AU 5 81477315 81477315 single base substitution C T intron_variant MELA-AU 5 81478718 81478718 single base substitution C A intron_variant MELA-AU 5 81478846 81478846 single base substitution G A intron_variant MELA-AU 5 81478854 81478854 single base substitution G A intron_variant MELA-AU 5 81479227 81479227 single base substitution A C intron_variant MELA-AU 5 81479350 81479350 single base substitution G A intron_variant MELA-AU 5 81479482 81479482 single base substitution C T intron_variant MELA-AU 5 81479784 81479784 single base substitution C T intron_variant MELA-AU 5 81480268 81480268 single base substitution C T intron_variant MELA-AU 5 81480452 81480453 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 81480463 81480463 single base substitution T A intron_variant MELA-AU 5 81481000 81481000 single base substitution C T intron_variant MELA-AU 5 81482958 81482958 single base substitution C T intron_variant MELA-AU 5 81482991 81482991 single base substitution G A intron_variant MELA-AU 5 81483000 81483000 single base substitution C T intron_variant MELA-AU 5 81483127 81483127 single base substitution C T intron_variant MELA-AU 5 81483244 81483244 single base substitution C T intron_variant MELA-AU 5 81483427 81483427 single base substitution C T intron_variant MELA-AU 5 81484127 81484127 single base substitution T A intron_variant MELA-AU 5 81484408 81484408 single base substitution T C intron_variant MELA-AU 5 81484562 81484562 single base substitution C T intron_variant MELA-AU 5 81484737 81484737 single base substitution T A intron_variant MELA-AU 5 81485742 81485743 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 81485816 81485816 single base substitution C T intron_variant MELA-AU 5 81485995 81485995 single base substitution T G intron_variant MELA-AU 5 81486285 81486285 single base substitution C T intron_variant MELA-AU 5 81486421 81486421 single base substitution C T intron_variant MELA-AU 5 81487245 81487245 single base substitution C T intron_variant MELA-AU 5 81489141 81489141 single base substitution T C intron_variant MELA-AU 5 81489198 81489198 single base substitution C T intron_variant MELA-AU 5 81489208 81489208 single base substitution C T intron_variant MELA-AU 5 81489219 81489219 single base substitution C T intron_variant MELA-AU 5 81489251 81489251 single base substitution C T intron_variant MELA-AU 5 81489611 81489611 single base substitution C T intron_variant MELA-AU 5 81489853 81489853 single base substitution C T intron_variant MELA-AU 5 81490071 81490072 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 5 81490180 81490180 single base substitution A T intron_variant MELA-AU 5 81490191 81490191 single base substitution C T intron_variant MELA-AU 5 81490207 81490207 single base substitution G A intron_variant MELA-AU 5 81490555 81490555 single base substitution C T intron_variant MELA-AU 5 81490651 81490651 single base substitution C T intron_variant MELA-AU 5 81490652 81490652 single base substitution C T intron_variant MELA-AU 5 81490828 81490828 single base substitution C T intron_variant MELA-AU 5 81490839 81490839 single base substitution C T intron_variant MELA-AU 5 81491057 81491057 single base substitution T A intron_variant MELA-AU 5 81491336 81491336 single base substitution C T intron_variant MELA-AU 5 81491378 81491378 single base substitution T C intron_variant MELA-AU 5 81491799 81491799 single base substitution C T intron_variant MELA-AU 5 81492143 81492143 single base substitution C T intron_variant MELA-AU 5 81492367 81492367 single base substitution T C intron_variant MELA-AU 5 81492564 81492564 single base substitution C T intron_variant MELA-AU 5 81493278 81493278 single base substitution T C intron_variant MELA-AU 5 81493454 81493454 single base substitution C T intron_variant MELA-AU 5 81493522 81493522 insertion of <=200bp - TTTC intron_variant MELA-AU 5 81493535 81493535 single base substitution T A intron_variant MELA-AU 5 81493539 81493539 single base substitution T A intron_variant MELA-AU 5 81493732 81493732 single base substitution C T intron_variant MELA-AU 5 81493926 81493926 single base substitution T A intron_variant MELA-AU 5 81494336 81494336 single base substitution C T intron_variant MELA-AU 5 81494347 81494348 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 5 81494435 81494435 single base substitution C T intron_variant MELA-AU 5 81494488 81494488 single base substitution C T intron_variant MELA-AU 5 81494947 81494947 single base substitution C T intron_variant MELA-AU 5 81495147 81495147 single base substitution C T intron_variant MELA-AU 5 81495696 81495696 single base substitution C T intron_variant MELA-AU 5 81496468 81496468 single base substitution C T intron_variant MELA-AU 5 81496548 81496548 single base substitution C T intron_variant MELA-AU 5 81496684 81496684 insertion of <=200bp - TTAT intron_variant MELA-AU 5 81496694 81496694 insertion of <=200bp - ATTC intron_variant MELA-AU 5 81497395 81497395 single base substitution C T intron_variant MELA-AU 5 81497400 81497400 single base substitution C T intron_variant MELA-AU 5 81497474 81497474 single base substitution C T intron_variant MELA-AU 5 81497598 81497598 single base substitution C T intron_variant MELA-AU 5 81497600 81497600 single base substitution C T intron_variant MELA-AU 5 81497740 81497740 single base substitution A G intron_variant MELA-AU 5 81497902 81497902 single base substitution C T intron_variant MELA-AU 5 81498291 81498291 single base substitution C T intron_variant MELA-AU 5 81498415 81498415 single base substitution C T intron_variant MELA-AU 5 81498448 81498448 single base substitution C T intron_variant MELA-AU 5 81498456 81498456 single base substitution C T intron_variant MELA-AU 5 81498612 81498612 single base substitution C T intron_variant MELA-AU 5 81498783 81498783 single base substitution C T intron_variant MELA-AU 5 81498829 81498829 single base substitution C T intron_variant MELA-AU 5 81499522 81499522 single base substitution C T intron_variant MELA-AU 5 81500031 81500031 single base substitution C A intron_variant MELA-AU 5 81500565 81500565 single base substitution G A intron_variant MELA-AU 5 81500572 81500572 single base substitution G A intron_variant MELA-AU 5 81500592 81500592 single base substitution G A intron_variant MELA-AU 5 81502114 81502114 single base substitution G A intron_variant MELA-AU 5 81502120 81502120 single base substitution G A intron_variant MELA-AU 5 81502284 81502284 single base substitution G A intron_variant MELA-AU 5 81502292 81502292 single base substitution C T intron_variant MELA-AU 5 81503108 81503108 single base substitution G A intron_variant MELA-AU 5 81503155 81503155 single base substitution T G intron_variant MELA-AU 5 81503652 81503652 single base substitution G A intron_variant MELA-AU 5 81503846 81503846 single base substitution C T intron_variant MELA-AU 5 81503869 81503869 single base substitution C T intron_variant MELA-AU 5 81503905 81503905 single base substitution T G intron_variant MELA-AU 5 81503986 81503986 single base substitution C T intron_variant MELA-AU 5 81503995 81503995 single base substitution C T intron_variant MELA-AU 5 81504091 81504091 single base substitution C T intron_variant MELA-AU 5 81504205 81504205 single base substitution G A intron_variant MELA-AU 5 81504236 81504236 single base substitution C T intron_variant MELA-AU 5 81504519 81504519 single base substitution C T intron_variant MELA-AU 5 81505618 81505618 single base substitution C T intron_variant MELA-AU 5 81506105 81506105 single base substitution G A intron_variant MELA-AU 5 81506449 81506449 single base substitution T C intron_variant MELA-AU 5 81506450 81506450 single base substitution C T intron_variant MELA-AU 5 81506843 81506843 single base substitution C T intron_variant MELA-AU 5 81507099 81507099 single base substitution G T intron_variant MELA-AU 5 81507177 81507177 single base substitution C T intron_variant MELA-AU 5 81507295 81507295 single base substitution A T intron_variant MELA-AU 5 81507510 81507511 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 81507518 81507518 single base substitution G A intron_variant MELA-AU 5 81507841 81507841 single base substitution G A intron_variant MELA-AU 5 81508063 81508063 single base substitution C T intron_variant MELA-AU 5 81508074 81508074 single base substitution C T intron_variant MELA-AU 5 81508196 81508196 single base substitution C T intron_variant MELA-AU 5 81508672 81508672 single base substitution C T intron_variant MELA-AU 5 81508833 81508833 single base substitution C T intron_variant MELA-AU 5 81508910 81508910 single base substitution C T intron_variant MELA-AU 5 81508985 81508985 single base substitution C T intron_variant MELA-AU 5 81509054 81509054 single base substitution C T intron_variant MELA-AU 5 81509058 81509058 single base substitution C T intron_variant MELA-AU 5 81509808 81509808 single base substitution C T intron_variant MELA-AU 5 81510187 81510187 single base substitution C T intron_variant MELA-AU 5 81510654 81510654 single base substitution C T intron_variant MELA-AU 5 81510898 81510898 single base substitution C T intron_variant MELA-AU 5 81511285 81511285 single base substitution C T intron_variant MELA-AU 5 81511730 81511730 single base substitution G A intron_variant MELA-AU 5 81513304 81513304 single base substitution C T intron_variant MELA-AU 5 81513846 81513846 single base substitution T C intron_variant MELA-AU 5 81513962 81513962 single base substitution C T intron_variant MELA-AU 5 81514069 81514069 single base substitution A T intron_variant MELA-AU 5 81514491 81514491 single base substitution T C intron_variant MELA-AU 5 81514521 81514521 single base substitution G A intron_variant MELA-AU 5 81515264 81515264 single base substitution A C intron_variant MELA-AU 5 81515543 81515543 single base substitution A G intron_variant MELA-AU 5 81515903 81515903 single base substitution G A intron_variant MELA-AU 5 81516562 81516562 single base substitution C T intron_variant MELA-AU 5 81516569 81516569 single base substitution C T intron_variant MELA-AU 5 81516731 81516731 single base substitution C T intron_variant MELA-AU 5 81516983 81516983 single base substitution C T intron_variant MELA-AU 5 81520287 81520287 single base substitution G A intron_variant MELA-AU 5 81520488 81520488 single base substitution G A intron_variant MELA-AU 5 81521052 81521052 single base substitution G A intron_variant MELA-AU 5 81521113 81521113 single base substitution C T intron_variant MELA-AU 5 81521886 81521886 single base substitution C T intron_variant MELA-AU 5 81522260 81522260 single base substitution C T intron_variant MELA-AU 5 81522426 81522426 single base substitution C T intron_variant MELA-AU 5 81522657 81522657 single base substitution T A intron_variant MELA-AU 5 81522698 81522698 single base substitution C T intron_variant MELA-AU 5 81522971 81522971 single base substitution C T intron_variant MELA-AU 5 81523079 81523079 single base substitution C T intron_variant MELA-AU 5 81523697 81523697 single base substitution C T intron_variant MELA-AU 5 81524904 81524904 single base substitution C T intron_variant MELA-AU 5 81525516 81525516 single base substitution G A intron_variant MELA-AU 5 81525578 81525578 single base substitution G A intron_variant MELA-AU 5 81525795 81525795 single base substitution C T intron_variant MELA-AU 5 81525872 81525872 single base substitution C T intron_variant MELA-AU 5 81526160 81526160 single base substitution G A intron_variant MELA-AU 5 81526521 81526521 single base substitution C T intron_variant MELA-AU 5 81526587 81526587 single base substitution G A intron_variant MELA-AU 5 81526781 81526781 single base substitution G A intron_variant MELA-AU 5 81528060 81528060 single base substitution G A intron_variant MELA-AU 5 81528146 81528146 single base substitution C T intron_variant MELA-AU 5 81528462 81528462 single base substitution C T intron_variant MELA-AU 5 81529141 81529141 single base substitution G A intron_variant MELA-AU 5 81530055 81530055 single base substitution G A intron_variant MELA-AU 5 81530106 81530106 single base substitution C T intron_variant MELA-AU 5 81530368 81530368 single base substitution C T intron_variant MELA-AU 5 81531006 81531006 single base substitution C T intron_variant MELA-AU 5 81531038 81531038 single base substitution C T intron_variant MELA-AU 5 81531039 81531039 single base substitution C T intron_variant MELA-AU 5 81531438 81531438 single base substitution C T intron_variant MELA-AU 5 81531475 81531475 single base substitution G A intron_variant MELA-AU 5 81531716 81531716 single base substitution C T intron_variant MELA-AU 5 81532129 81532129 single base substitution C T intron_variant MELA-AU 5 81532825 81532825 single base substitution C T intron_variant MELA-AU 5 81533020 81533020 single base substitution G A intron_variant MELA-AU 5 81533223 81533223 single base substitution G A intron_variant MELA-AU 5 81533260 81533260 single base substitution C T intron_variant MELA-AU 5 81533499 81533499 single base substitution C T intron_variant MELA-AU 5 81533686 81533686 single base substitution C T intron_variant MELA-AU 5 81533764 81533764 single base substitution G A intron_variant MELA-AU 5 81534066 81534066 single base substitution C T intron_variant MELA-AU 5 81534542 81534542 single base substitution C T intron_variant MELA-AU 5 81534600 81534600 single base substitution A T intron_variant MELA-AU 5 81534675 81534675 single base substitution C T intron_variant MELA-AU 5 81535257 81535257 single base substitution G A intron_variant MELA-AU 5 81535283 81535283 single base substitution C T intron_variant MELA-AU 5 81535392 81535392 single base substitution G A intron_variant MELA-AU 5 81535551 81535551 single base substitution C T intron_variant MELA-AU 5 81535655 81535655 single base substitution C T intron_variant MELA-AU 5 81535737 81535737 single base substitution T A intron_variant MELA-AU 5 81535760 81535760 single base substitution G A intron_variant MELA-AU 5 81535761 81535761 single base substitution G A intron_variant MELA-AU 5 81535807 81535807 single base substitution A T intron_variant MELA-AU 5 81536616 81536616 single base substitution C T intron_variant MELA-AU 5 81537362 81537362 single base substitution C T intron_variant MELA-AU 5 81539233 81539233 single base substitution C T intron_variant MELA-AU 5 81539338 81539338 single base substitution C A intron_variant MELA-AU 5 81540567 81540567 single base substitution C T intron_variant MELA-AU 5 81540960 81540960 single base substitution C T intron_variant MELA-AU 5 81541561 81541561 single base substitution A T intron_variant MELA-AU 5 81542350 81542350 single base substitution A T intron_variant MELA-AU 5 81543063 81543063 single base substitution C T intron_variant MELA-AU 5 81543281 81543281 single base substitution A G intron_variant MELA-AU 5 81543533 81543533 single base substitution C T intron_variant MELA-AU 5 81543651 81543651 single base substitution C T intron_variant MELA-AU 5 81543657 81543657 single base substitution C T intron_variant MELA-AU 5 81544114 81544114 single base substitution C T intron_variant MELA-AU 5 81544475 81544475 single base substitution G A intron_variant MELA-AU 5 81544772 81544772 single base substitution T G intron_variant MELA-AU 5 81545000 81545000 single base substitution T G intron_variant MELA-AU 5 81545893 81545893 single base substitution C T intron_variant MELA-AU 5 81546242 81546242 single base substitution G A intron_variant MELA-AU 5 81546319 81546319 single base substitution G A intron_variant MELA-AU 5 81546324 81546324 single base substitution G A intron_variant MELA-AU 5 81546346 81546346 single base substitution C T intron_variant MELA-AU 5 81546999 81546999 single base substitution G A intron_variant MELA-AU 5 81547223 81547223 single base substitution C T intron_variant MELA-AU 5 81547261 81547261 single base substitution G A intron_variant MELA-AU 5 81547609 81547609 single base substitution C T intron_variant MELA-AU 5 81547948 81547948 single base substitution G A intron_variant MELA-AU 5 81548057 81548057 single base substitution G A intron_variant MELA-AU 5 81548803 81548803 single base substitution G A downstream_gene_variant MELA-AU 5 81548803 81548803 single base substitution G A intron_variant MELA-AU 5 81549255 81549255 single base substitution G A downstream_gene_variant MELA-AU 5 81549255 81549255 single base substitution G A intron_variant MELA-AU 5 81549255 81549255 single base substitution G A splice_region_variant MELA-AU 5 81549519 81549519 single base substitution C T downstream_gene_variant MELA-AU 5 81549519 81549519 single base substitution C T intron_variant MELA-AU 5 81549665 81549665 single base substitution C T downstream_gene_variant MELA-AU 5 81549665 81549665 single base substitution C T intron_variant MELA-AU 5 81550144 81550145 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 5 81550144 81550145 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 81550144 81550145 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 81550262 81550262 single base substitution C T 3_prime_UTR_variant MELA-AU 5 81550262 81550262 single base substitution C T downstream_gene_variant MELA-AU 5 81550262 81550262 single base substitution C T intron_variant MELA-AU 5 81550480 81550480 single base substitution G A 3_prime_UTR_variant MELA-AU 5 81550480 81550480 single base substitution G A downstream_gene_variant MELA-AU 5 81550480 81550480 single base substitution G A intron_variant MELA-AU 5 81550615 81550615 single base substitution G A 3_prime_UTR_variant MELA-AU 5 81550615 81550615 single base substitution G A downstream_gene_variant MELA-AU 5 81550615 81550615 single base substitution G A intron_variant MELA-AU 5 81550648 81550648 single base substitution C G 3_prime_UTR_variant MELA-AU 5 81550648 81550648 single base substitution C G downstream_gene_variant MELA-AU 5 81550648 81550648 single base substitution C G intron_variant MELA-AU 5 81551107 81551107 single base substitution G A 3_prime_UTR_variant MELA-AU 5 81551107 81551107 single base substitution G A downstream_gene_variant MELA-AU 5 81551107 81551107 single base substitution G A intron_variant MELA-AU 5 81551423 81551423 single base substitution C T 3_prime_UTR_variant MELA-AU 5 81551423 81551423 single base substitution C T downstream_gene_variant MELA-AU 5 81551423 81551423 single base substitution C T intron_variant MELA-AU 5 81551742 81551742 single base substitution A G 3_prime_UTR_variant MELA-AU 5 81551742 81551742 single base substitution A G downstream_gene_variant MELA-AU 5 81551742 81551742 single base substitution A G intron_variant MELA-AU 5 81552092 81552092 single base substitution C T downstream_gene_variant MELA-AU 5 81552092 81552092 single base substitution C T intron_variant MELA-AU 5 81552425 81552425 single base substitution C T downstream_gene_variant MELA-AU 5 81552425 81552425 single base substitution C T intron_variant MELA-AU 5 81552487 81552487 single base substitution C T downstream_gene_variant MELA-AU 5 81552487 81552487 single base substitution C T intron_variant MELA-AU 5 81553503 81553503 single base substitution C T downstream_gene_variant MELA-AU 5 81553503 81553503 single base substitution C T intron_variant MELA-AU 5 81553581 81553581 single base substitution C T downstream_gene_variant MELA-AU 5 81553581 81553581 single base substitution C T intron_variant MELA-AU 5 81553920 81553920 single base substitution C A downstream_gene_variant MELA-AU 5 81553920 81553920 single base substitution C A intron_variant MELA-AU 5 81554749 81554749 single base substitution C T downstream_gene_variant MELA-AU 5 81554749 81554749 single base substitution C T intron_variant MELA-AU 5 81554955 81554959 deletion of <=200bp GACCA - downstream_gene_variant MELA-AU 5 81554955 81554959 deletion of <=200bp GACCA - intron_variant MELA-AU 5 81555203 81555203 single base substitution T A downstream_gene_variant MELA-AU 5 81555203 81555203 single base substitution T A intron_variant MELA-AU 5 81556110 81556110 single base substitution C T downstream_gene_variant MELA-AU 5 81556110 81556110 single base substitution C T intron_variant MELA-AU 5 81556416 81556416 single base substitution C T downstream_gene_variant MELA-AU 5 81556416 81556416 single base substitution C T intron_variant MELA-AU 5 81556788 81556788 single base substitution A G downstream_gene_variant MELA-AU 5 81556788 81556788 single base substitution A G intron_variant MELA-AU 5 81558329 81558329 single base substitution C T intron_variant MELA-AU 5 81558624 81558624 single base substitution C T intron_variant MELA-AU 5 81559658 81559659 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 81560534 81560534 single base substitution G A intron_variant MELA-AU 5 81560743 81560743 single base substitution C T intron_variant MELA-AU 5 81561204 81561204 single base substitution G A intron_variant MELA-AU 5 81561656 81561656 single base substitution G A intron_variant MELA-AU 5 81563066 81563066 single base substitution G A intron_variant MELA-AU 5 81563123 81563123 single base substitution C T intron_variant MELA-AU 5 81565377 81565377 single base substitution G A intron_variant MELA-AU 5 81565654 81565654 single base substitution G A intron_variant MELA-AU 5 81565796 81565796 single base substitution G A intron_variant MELA-AU 5 81566842 81566842 single base substitution C T intron_variant MELA-AU 5 81567418 81567418 single base substitution A T intron_variant MELA-AU 5 81567853 81567853 single base substitution A G intron_variant MELA-AU 5 81568701 81568701 single base substitution C T intron_variant MELA-AU 5 81568942 81568942 single base substitution C T intron_variant MELA-AU 5 81570057 81570057 single base substitution C T intron_variant MELA-AU 5 81570655 81570655 single base substitution G A intron_variant MELA-AU 5 81570939 81570939 single base substitution A T intron_variant MELA-AU 5 81572923 81572923 single base substitution G A downstream_gene_variant MELA-AU 5 81574191 81574191 single base substitution G A downstream_gene_variant MELA-AU 5 81574379 81574379 single base substitution T C downstream_gene_variant MELA-AU 5 81574413 81574413 single base substitution G A downstream_gene_variant MELA-AU 5 81574560 81574560 single base substitution G A downstream_gene_variant ORCA-IN 5 81299729 81299729 single base substitution C A intron_variant ORCA-IN 5 81315991 81315991 single base substitution C T intron_variant ORCA-IN 5 81329554 81329554 single base substitution C A intron_variant ORCA-IN 5 81329578 81329579 multiple base substitution (>=2bp and <=200bp) CA TG intron_variant ORCA-IN 5 81361886 81361886 single base substitution G T intron_variant ORCA-IN 5 81416256 81416256 single base substitution A G intron_variant ORCA-IN 5 81421356 81421356 single base substitution T C intron_variant ORCA-IN 5 81433587 81433587 single base substitution C T intron_variant ORCA-IN 5 81451756 81451756 single base substitution A G intron_variant ORCA-IN 5 81474447 81474447 single base substitution A G intron_variant ORCA-IN 5 81477668 81477668 single base substitution G T intron_variant ORCA-IN 5 81482587 81482587 single base substitution G C intron_variant ORCA-IN 5 81482678 81482678 single base substitution G T intron_variant ORCA-IN 5 81488354 81488354 single base substitution G T intron_variant ORCA-IN 5 81493282 81493282 single base substitution C T intron_variant OV-AU 5 81268967 81268967 single base substitution G T intron_variant OV-AU 5 81268967 81268967 single base substitution G T splice_region_variant OV-AU 5 81268968 81268968 single base substitution A T intron_variant OV-AU 5 81268968 81268968 single base substitution A T splice_region_variant OV-AU 5 81279224 81279224 single base substitution C T intron_variant OV-AU 5 81279224 81279224 single base substitution C T upstream_gene_variant OV-AU 5 81284118 81284118 single base substitution C T downstream_gene_variant OV-AU 5 81284118 81284118 single base substitution C T intron_variant OV-AU 5 81290899 81290899 single base substitution G C intron_variant OV-AU 5 81303653 81303653 single base substitution T C intron_variant OV-AU 5 81309629 81309629 single base substitution G T intron_variant OV-AU 5 81316911 81316911 single base substitution A T intron_variant OV-AU 5 81322085 81322085 single base substitution T G intron_variant OV-AU 5 81323202 81323202 single base substitution A T intron_variant OV-AU 5 81325244 81325244 single base substitution A T intron_variant OV-AU 5 81326594 81326594 single base substitution C A intron_variant OV-AU 5 81329048 81329048 single base substitution C T intron_variant OV-AU 5 81331881 81331881 single base substitution C G intron_variant OV-AU 5 81341451 81341451 single base substitution G A intron_variant OV-AU 5 81345757 81345757 single base substitution A G intron_variant OV-AU 5 81347220 81347220 single base substitution G T intron_variant OV-AU 5 81349851 81349851 single base substitution C G intron_variant OV-AU 5 81357602 81357602 single base substitution T C intron_variant OV-AU 5 81369952 81369952 single base substitution C A intron_variant OV-AU 5 81380186 81380186 single base substitution G C intron_variant OV-AU 5 81380249 81380249 single base substitution T A intron_variant OV-AU 5 81380851 81380851 single base substitution C T intron_variant OV-AU 5 81382621 81382621 single base substitution C T intron_variant OV-AU 5 81387564 81387564 single base substitution G C intron_variant OV-AU 5 81393171 81393171 single base substitution G T intron_variant OV-AU 5 81406927 81406927 single base substitution C G intron_variant OV-AU 5 81406927 81406927 single base substitution C G upstream_gene_variant OV-AU 5 81421377 81421377 single base substitution A C intron_variant OV-AU 5 81432708 81432708 single base substitution C G intron_variant OV-AU 5 81438554 81438554 single base substitution G C intron_variant OV-AU 5 81439664 81439664 single base substitution C G intron_variant OV-AU 5 81461005 81461005 single base substitution T C intron_variant OV-AU 5 81462575 81462575 single base substitution T C intron_variant OV-AU 5 81464155 81464155 single base substitution T C intron_variant OV-AU 5 81469656 81469656 single base substitution A T intron_variant OV-AU 5 81473330 81473330 single base substitution G A intron_variant OV-AU 5 81474691 81474691 single base substitution T C intron_variant OV-AU 5 81482630 81482630 single base substitution A T intron_variant OV-AU 5 81484252 81484252 single base substitution C G intron_variant OV-AU 5 81488720 81488720 single base substitution A G intron_variant OV-AU 5 81494234 81494234 single base substitution A G intron_variant OV-AU 5 81517020 81517020 single base substitution G A intron_variant OV-AU 5 81517674 81517674 single base substitution C A intron_variant OV-AU 5 81523560 81523560 single base substitution G C intron_variant OV-AU 5 81525079 81525079 single base substitution C G intron_variant OV-AU 5 81529847 81529847 single base substitution C A intron_variant OV-AU 5 81537882 81537882 single base substitution C G intron_variant OV-AU 5 81540700 81540700 single base substitution C T intron_variant OV-AU 5 81551159 81551159 single base substitution C A 3_prime_UTR_variant OV-AU 5 81551159 81551159 single base substitution C A downstream_gene_variant OV-AU 5 81551159 81551159 single base substitution C A intron_variant OV-AU 5 81554442 81554442 single base substitution C A downstream_gene_variant OV-AU 5 81554442 81554442 single base substitution C A intron_variant OV-AU 5 81555779 81555779 single base substitution G T downstream_gene_variant OV-AU 5 81555779 81555779 single base substitution G T intron_variant OV-AU 5 81556880 81556880 single base substitution C A downstream_gene_variant OV-AU 5 81556880 81556880 single base substitution C A intron_variant OV-AU 5 81558027 81558027 single base substitution G A intron_variant OV-AU 5 81571145 81571145 single base substitution C G intron_variant PACA-AU 5 81262983 81262983 insertion of <=200bp - AAAAT upstream_gene_variant PACA-AU 5 81263958 81263958 single base substitution C T upstream_gene_variant PACA-AU 5 81267759 81267759 single base substitution G A upstream_gene_variant PACA-AU 5 81268151 81268151 single base substitution G A 5_prime_UTR_variant PACA-AU 5 81268151 81268151 single base substitution G A intron_variant PACA-AU 5 81281872 81281872 single base substitution C T intron_variant PACA-AU 5 81281872 81281872 single base substitution C T upstream_gene_variant PACA-AU 5 81289231 81289231 single base substitution T C intron_variant PACA-AU 5 81297654 81297654 single base substitution C T intron_variant PACA-AU 5 81298252 81298252 single base substitution A G intron_variant PACA-AU 5 81303632 81303633 deletion of <=200bp AT - intron_variant PACA-AU 5 81311663 81311663 single base substitution G A intron_variant PACA-AU 5 81313159 81313159 single base substitution T C intron_variant PACA-AU 5 81317057 81317057 single base substitution C T intron_variant PACA-AU 5 81322890 81322894 deletion of <=200bp AAATA - intron_variant PACA-AU 5 81323076 81323076 single base substitution A G intron_variant PACA-AU 5 81327624 81327624 single base substitution T C intron_variant PACA-AU 5 81332225 81332225 single base substitution C T intron_variant PACA-AU 5 81336167 81336175 deletion of <=200bp ATTTATAAA - intron_variant PACA-AU 5 81339027 81339027 single base substitution G A intron_variant PACA-AU 5 81348088 81348088 single base substitution T G intron_variant PACA-AU 5 81353781 81353791 deletion of <=200bp AAATGGAAATG - intron_variant PACA-AU 5 81359896 81359896 single base substitution T G intron_variant PACA-AU 5 81360359 81360359 single base substitution T C intron_variant PACA-AU 5 81360420 81360420 single base substitution T G intron_variant PACA-AU 5 81361649 81361649 single base substitution C T intron_variant PACA-AU 5 81364973 81364973 single base substitution G T intron_variant PACA-AU 5 81369008 81369008 single base substitution C G intron_variant PACA-AU 5 81373392 81373392 single base substitution T A intron_variant PACA-AU 5 81375037 81375037 single base substitution C A intron_variant PACA-AU 5 81394686 81394686 single base substitution C A intron_variant PACA-AU 5 81397730 81397730 single base substitution A G intron_variant PACA-AU 5 81399912 81399912 single base substitution G A intron_variant PACA-AU 5 81402838 81402838 single base substitution C G intron_variant PACA-AU 5 81402838 81402838 single base substitution C G upstream_gene_variant PACA-AU 5 81412390 81412390 single base substitution G A intron_variant PACA-AU 5 81414135 81414135 single base substitution G A intron_variant PACA-AU 5 81414137 81414137 single base substitution A G intron_variant PACA-AU 5 81423160 81423160 single base substitution T C intron_variant PACA-AU 5 81426465 81426465 single base substitution T A intron_variant PACA-AU 5 81431732 81431732 single base substitution T A intron_variant PACA-AU 5 81431746 81431746 single base substitution G T intron_variant PACA-AU 5 81432136 81432136 single base substitution G A intron_variant PACA-AU 5 81432686 81432686 single base substitution C G intron_variant PACA-AU 5 81437471 81437471 single base substitution A T intron_variant PACA-AU 5 81437593 81437593 single base substitution C G intron_variant PACA-AU 5 81439173 81439173 single base substitution A T intron_variant PACA-AU 5 81446366 81446366 single base substitution G T downstream_gene_variant PACA-AU 5 81446366 81446366 single base substitution G T intron_variant PACA-AU 5 81449570 81449570 single base substitution A G intron_variant PACA-AU 5 81450919 81450919 single base substitution T C intron_variant PACA-AU 5 81460126 81460126 single base substitution T C intron_variant PACA-AU 5 81460126 81460126 single base substitution T C upstream_gene_variant PACA-AU 5 81462129 81462129 deletion of <=200bp T - intron_variant PACA-AU 5 81468530 81468530 single base substitution G A intron_variant PACA-AU 5 81472257 81472257 single base substitution G A intron_variant PACA-AU 5 81486079 81486079 single base substitution A G intron_variant PACA-AU 5 81493531 81493531 single base substitution T A intron_variant PACA-AU 5 81495446 81495446 single base substitution G A intron_variant PACA-AU 5 81496432 81496432 single base substitution G A intron_variant PACA-AU 5 81496669 81496669 single base substitution T G intron_variant PACA-AU 5 81509675 81509685 deletion of <=200bp ATCTTTCTCTG - intron_variant PACA-AU 5 81510070 81510070 single base substitution T C intron_variant PACA-AU 5 81525743 81525743 single base substitution T C intron_variant PACA-AU 5 81526660 81526660 single base substitution T C intron_variant PACA-AU 5 81530076 81530076 single base substitution C T intron_variant PACA-AU 5 81536624 81536624 single base substitution T G intron_variant PACA-AU 5 81538681 81538681 single base substitution G A 3_prime_UTR_variant PACA-AU 5 81538681 81538681 single base substitution G A intron_variant PACA-AU 5 81544315 81544315 single base substitution A G intron_variant PACA-AU 5 81552928 81552928 single base substitution C T downstream_gene_variant PACA-AU 5 81552928 81552928 single base substitution C T intron_variant PACA-AU 5 81554557 81554557 single base substitution C A downstream_gene_variant PACA-AU 5 81554557 81554557 single base substitution C A intron_variant PACA-AU 5 81554772 81554772 single base substitution C T downstream_gene_variant PACA-AU 5 81554772 81554772 single base substitution C T intron_variant PACA-AU 5 81555559 81555559 single base substitution G A downstream_gene_variant PACA-AU 5 81555559 81555559 single base substitution G A intron_variant PACA-AU 5 81567519 81567519 deletion of <=200bp T - intron_variant PACA-AU 5 81568180 81568180 single base substitution T G intron_variant PACA-AU 5 81568497 81568497 single base substitution G A intron_variant PACA-AU 5 81576931 81576931 single base substitution A G downstream_gene_variant PACA-CA 5 81263101 81263101 single base substitution G T upstream_gene_variant PACA-CA 5 81268123 81268123 single base substitution G A 5_prime_UTR_variant PACA-CA 5 81268123 81268123 single base substitution G A splice_region_variant PACA-CA 5 81269092 81269092 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 5 81269092 81269092 single base substitution G T intron_variant PACA-CA 5 81271556 81271556 deletion of <=200bp T - intron_variant PACA-CA 5 81274343 81274343 single base substitution T G intron_variant PACA-CA 5 81274888 81274888 single base substitution T G intron_variant PACA-CA 5 81275176 81275176 single base substitution C T intron_variant PACA-CA 5 81275612 81275612 deletion of <=200bp T - intron_variant PACA-CA 5 81277136 81277136 single base substitution T C intron_variant PACA-CA 5 81279199 81279199 single base substitution C T intron_variant PACA-CA 5 81279199 81279199 single base substitution C T upstream_gene_variant PACA-CA 5 81279556 81279556 single base substitution C T intron_variant PACA-CA 5 81279556 81279556 single base substitution C T upstream_gene_variant PACA-CA 5 81279760 81279760 single base substitution G T intron_variant PACA-CA 5 81279760 81279760 single base substitution G T upstream_gene_variant PACA-CA 5 81279865 81279865 single base substitution A G intron_variant PACA-CA 5 81279865 81279865 single base substitution A G upstream_gene_variant PACA-CA 5 81282951 81282951 insertion of <=200bp - T intron_variant PACA-CA 5 81282951 81282951 insertion of <=200bp - T upstream_gene_variant PACA-CA 5 81286038 81286038 single base substitution A G downstream_gene_variant PACA-CA 5 81286038 81286038 single base substitution A G intron_variant PACA-CA 5 81288914 81288914 single base substitution C A intron_variant PACA-CA 5 81289817 81289817 single base substitution C A intron_variant PACA-CA 5 81293253 81293253 single base substitution C G intron_variant PACA-CA 5 81293402 81293402 single base substitution C G intron_variant PACA-CA 5 81293485 81293485 single base substitution G A intron_variant PACA-CA 5 81295060 81295060 deletion of <=200bp A - intron_variant PACA-CA 5 81295379 81295379 deletion of <=200bp A - intron_variant PACA-CA 5 81297458 81297458 single base substitution C T intron_variant PACA-CA 5 81300517 81300517 single base substitution C T intron_variant PACA-CA 5 81306758 81306758 single base substitution A G intron_variant PACA-CA 5 81307769 81307769 single base substitution G T intron_variant PACA-CA 5 81309810 81309810 single base substitution C G intron_variant PACA-CA 5 81312725 81312725 deletion of <=200bp G - intron_variant PACA-CA 5 81314454 81314454 single base substitution C G intron_variant PACA-CA 5 81314475 81314475 single base substitution G T intron_variant PACA-CA 5 81316623 81316623 single base substitution C T intron_variant PACA-CA 5 81316899 81316899 insertion of <=200bp - T intron_variant PACA-CA 5 81316947 81316947 single base substitution C T intron_variant PACA-CA 5 81319137 81319137 single base substitution A C intron_variant PACA-CA 5 81323034 81323034 single base substitution G A intron_variant PACA-CA 5 81323908 81323908 single base substitution T C intron_variant PACA-CA 5 81324554 81324554 deletion of <=200bp T - intron_variant PACA-CA 5 81325539 81325539 single base substitution C T intron_variant PACA-CA 5 81328286 81328286 single base substitution A G intron_variant PACA-CA 5 81330078 81330078 single base substitution T C intron_variant PACA-CA 5 81330419 81330419 single base substitution C T intron_variant PACA-CA 5 81332470 81332470 single base substitution C G intron_variant PACA-CA 5 81341299 81341299 single base substitution G T intron_variant PACA-CA 5 81341741 81341741 single base substitution C T intron_variant PACA-CA 5 81341788 81341788 single base substitution C A intron_variant PACA-CA 5 81342357 81342357 single base substitution G A intron_variant PACA-CA 5 81343606 81343606 single base substitution A G intron_variant PACA-CA 5 81346529 81346529 single base substitution A G intron_variant PACA-CA 5 81347475 81347475 single base substitution C T intron_variant PACA-CA 5 81352509 81352509 single base substitution G A intron_variant PACA-CA 5 81352738 81352738 single base substitution G C intron_variant PACA-CA 5 81355183 81355183 single base substitution T A intron_variant PACA-CA 5 81355963 81355963 single base substitution C G intron_variant PACA-CA 5 81359031 81359031 single base substitution T C intron_variant PACA-CA 5 81364591 81364591 insertion of <=200bp - A intron_variant PACA-CA 5 81366008 81366008 single base substitution G A intron_variant PACA-CA 5 81369571 81369571 single base substitution C G intron_variant PACA-CA 5 81373624 81373624 single base substitution A G intron_variant PACA-CA 5 81375327 81375327 single base substitution C T intron_variant PACA-CA 5 81375961 81375961 single base substitution C G intron_variant PACA-CA 5 81376732 81376732 single base substitution C G intron_variant PACA-CA 5 81382672 81382672 single base substitution C T intron_variant PACA-CA 5 81384820 81384820 single base substitution T C intron_variant PACA-CA 5 81387199 81387200 deletion of <=200bp TT - intron_variant PACA-CA 5 81387983 81387983 single base substitution G A intron_variant PACA-CA 5 81389491 81389491 insertion of <=200bp - T intron_variant PACA-CA 5 81393841 81393841 single base substitution C T intron_variant PACA-CA 5 81396782 81396784 deletion of <=200bp AAG - intron_variant PACA-CA 5 81401951 81401951 single base substitution G A intron_variant PACA-CA 5 81403808 81403808 single base substitution C G intron_variant PACA-CA 5 81403808 81403808 single base substitution C G upstream_gene_variant PACA-CA 5 81407701 81407701 single base substitution T G intron_variant PACA-CA 5 81409234 81409234 single base substitution T C intron_variant PACA-CA 5 81411602 81411602 single base substitution G T intron_variant PACA-CA 5 81414655 81414655 single base substitution A G intron_variant PACA-CA 5 81416701 81416701 single base substitution C T intron_variant PACA-CA 5 81421650 81421650 single base substitution T A intron_variant PACA-CA 5 81424981 81424981 single base substitution C A intron_variant PACA-CA 5 81426143 81426143 single base substitution G C intron_variant PACA-CA 5 81426189 81426189 single base substitution G A intron_variant PACA-CA 5 81428110 81428110 single base substitution G A intron_variant PACA-CA 5 81428632 81428632 single base substitution G A intron_variant PACA-CA 5 81431566 81431566 single base substitution G C intron_variant PACA-CA 5 81431873 81431873 deletion of <=200bp T - intron_variant PACA-CA 5 81433800 81433800 single base substitution G A intron_variant PACA-CA 5 81437272 81437272 single base substitution G T intron_variant PACA-CA 5 81438709 81438709 single base substitution T A intron_variant PACA-CA 5 81440017 81440017 single base substitution G A intron_variant PACA-CA 5 81447813 81447813 single base substitution A T downstream_gene_variant PACA-CA 5 81447813 81447813 single base substitution A T intron_variant PACA-CA 5 81449033 81449033 single base substitution C G intron_variant PACA-CA 5 81456035 81456035 single base substitution G A intron_variant PACA-CA 5 81456035 81456035 single base substitution G A upstream_gene_variant PACA-CA 5 81456121 81456121 single base substitution T C intron_variant PACA-CA 5 81456121 81456121 single base substitution T C upstream_gene_variant PACA-CA 5 81457471 81457471 single base substitution T C intron_variant PACA-CA 5 81457471 81457471 single base substitution T C upstream_gene_variant PACA-CA 5 81459151 81459151 single base substitution T G intron_variant PACA-CA 5 81459151 81459151 single base substitution T G upstream_gene_variant PACA-CA 5 81460819 81460819 single base substitution C T intron_variant PACA-CA 5 81464578 81464578 single base substitution G A intron_variant PACA-CA 5 81477790 81477790 insertion of <=200bp - A intron_variant PACA-CA 5 81478246 81478246 single base substitution G C intron_variant PACA-CA 5 81485107 81485107 single base substitution C A intron_variant PACA-CA 5 81485451 81485451 insertion of <=200bp - T intron_variant PACA-CA 5 81493543 81493543 single base substitution A T intron_variant PACA-CA 5 81499758 81499758 single base substitution T G intron_variant PACA-CA 5 81508634 81508634 single base substitution G A intron_variant PACA-CA 5 81510165 81510165 insertion of <=200bp - A intron_variant PACA-CA 5 81514153 81514153 single base substitution T A intron_variant PACA-CA 5 81515937 81515937 single base substitution C A intron_variant PACA-CA 5 81519436 81519436 single base substitution A G intron_variant PACA-CA 5 81523450 81523450 single base substitution C T intron_variant PACA-CA 5 81525462 81525462 single base substitution A G intron_variant PACA-CA 5 81526087 81526087 single base substitution C T intron_variant PACA-CA 5 81532818 81532818 single base substitution T C intron_variant PACA-CA 5 81552049 81552049 single base substitution T A downstream_gene_variant PACA-CA 5 81552049 81552049 single base substitution T A intron_variant PACA-CA 5 81556206 81556206 single base substitution G T downstream_gene_variant PACA-CA 5 81556206 81556206 single base substitution G T intron_variant PACA-CA 5 81558415 81558415 single base substitution A G intron_variant PACA-CA 5 81561252 81561252 single base substitution T A intron_variant PACA-CA 5 81565532 81565532 single base substitution C T intron_variant PACA-CA 5 81570572 81570572 single base substitution G A intron_variant PACA-CA 5 81577524 81577524 deletion of <=200bp C - downstream_gene_variant PAEN-AU 5 81268047 81268047 insertion of <=200bp - CCCCAGCTC 5_prime_UTR_variant PAEN-AU 5 81268047 81268047 insertion of <=200bp - CCCCAGCTC upstream_gene_variant PAEN-AU 5 81323700 81323700 single base substitution G T intron_variant PAEN-AU 5 81337151 81337151 single base substitution C A intron_variant PAEN-AU 5 81342612 81342612 single base substitution C A intron_variant PAEN-AU 5 81378698 81378698 single base substitution T A intron_variant PAEN-AU 5 81381019 81381019 single base substitution G T intron_variant PAEN-AU 5 81395488 81395488 single base substitution T C intron_variant PAEN-AU 5 81493273 81493273 single base substitution G A intron_variant PAEN-AU 5 81557625 81557625 single base substitution C T intron_variant PAEN-AU 5 81563732 81563732 single base substitution G C intron_variant PAEN-IT 5 81315646 81315646 single base substitution C A intron_variant PAEN-IT 5 81375198 81375198 single base substitution T A intron_variant PAEN-IT 5 81376360 81376360 single base substitution A G intron_variant PAEN-IT 5 81381039 81381039 single base substitution C A intron_variant PAEN-IT 5 81393704 81393704 single base substitution G C intron_variant PAEN-IT 5 81485596 81485596 single base substitution C A intron_variant PAEN-IT 5 81527609 81527609 single base substitution A T intron_variant PAEN-IT 5 81560054 81560054 single base substitution C T intron_variant PAEN-IT 5 81564298 81564298 single base substitution C A intron_variant PBCA-DE 5 81263100 81263100 single base substitution C T upstream_gene_variant PBCA-DE 5 81263644 81263644 deletion of <=200bp T - upstream_gene_variant PBCA-DE 5 81270337 81270337 single base substitution T G intron_variant PBCA-DE 5 81282007 81282007 single base substitution G A intron_variant PBCA-DE 5 81282007 81282007 single base substitution G A upstream_gene_variant PBCA-DE 5 81289600 81289600 single base substitution G C intron_variant PBCA-DE 5 81302686 81302686 insertion of <=200bp - T intron_variant PBCA-DE 5 81304114 81304114 insertion of <=200bp - T intron_variant PBCA-DE 5 81349214 81349214 single base substitution T C intron_variant PBCA-DE 5 81356421 81356421 single base substitution G A intron_variant PBCA-DE 5 81356782 81356787 deletion of <=200bp AAATTA - intron_variant PBCA-DE 5 81356810 81356810 single base substitution C A intron_variant PBCA-DE 5 81364503 81364504 deletion of <=200bp AT - intron_variant PBCA-DE 5 81369848 81369848 single base substitution C G intron_variant PBCA-DE 5 81370613 81370613 single base substitution A G intron_variant PBCA-DE 5 81373435 81373435 single base substitution C T intron_variant PBCA-DE 5 81375186 81375186 deletion of <=200bp T - intron_variant PBCA-DE 5 81377639 81377639 deletion of <=200bp T - intron_variant PBCA-DE 5 81377997 81377997 single base substitution T A intron_variant PBCA-DE 5 81381624 81381624 single base substitution A T intron_variant PBCA-DE 5 81384002 81384002 single base substitution T A intron_variant PBCA-DE 5 81384089 81384089 single base substitution G T intron_variant PBCA-DE 5 81384174 81384174 single base substitution T A intron_variant PBCA-DE 5 81385162 81385162 insertion of <=200bp - A intron_variant PBCA-DE 5 81405770 81405770 insertion of <=200bp - C intron_variant PBCA-DE 5 81405770 81405770 insertion of <=200bp - C upstream_gene_variant PBCA-DE 5 81409828 81409828 insertion of <=200bp - A intron_variant PBCA-DE 5 81424984 81424984 single base substitution G A intron_variant PBCA-DE 5 81453243 81453243 single base substitution G A intron_variant PBCA-DE 5 81458214 81458214 single base substitution A T intron_variant PBCA-DE 5 81458214 81458214 single base substitution A T upstream_gene_variant PBCA-DE 5 81458660 81458660 single base substitution T G intron_variant PBCA-DE 5 81458660 81458660 single base substitution T G upstream_gene_variant PBCA-DE 5 81463937 81463937 single base substitution G T intron_variant PBCA-DE 5 81466603 81466603 insertion of <=200bp - A intron_variant PBCA-DE 5 81474978 81474978 single base substitution A T intron_variant PBCA-DE 5 81480337 81480337 single base substitution G T intron_variant PBCA-DE 5 81488595 81488595 single base substitution A G intron_variant PBCA-DE 5 81491249 81491249 single base substitution C T intron_variant PBCA-DE 5 81493540 81493540 insertion of <=200bp - TCTA intron_variant PBCA-DE 5 81493540 81493543 deletion of <=200bp TCTA - intron_variant PBCA-DE 5 81501494 81501494 single base substitution A G intron_variant PBCA-DE 5 81505063 81505063 deletion of <=200bp A - intron_variant PBCA-DE 5 81505308 81505308 single base substitution C T intron_variant PBCA-DE 5 81510091 81510091 single base substitution G A intron_variant PBCA-DE 5 81549158 81549158 single base substitution C G 3_prime_UTR_variant PBCA-DE 5 81549158 81549158 single base substitution C G downstream_gene_variant PBCA-DE 5 81549158 81549158 single base substitution C G intron_variant PBCA-DE 5 81549158 81549158 single base substitution C G missense_variant L193V 577C>G PBCA-DE 5 81562698 81562698 single base substitution G T intron_variant PBCA-DE 5 81573422 81573422 single base substitution A C downstream_gene_variant PRAD-CA 5 81281635 81281635 single base substitution G T intron_variant PRAD-CA 5 81281635 81281635 single base substitution G T upstream_gene_variant PRAD-CA 5 81289445 81289445 single base substitution C T intron_variant PRAD-CA 5 81329772 81329772 single base substitution T C intron_variant PRAD-CA 5 81355226 81355226 single base substitution C T intron_variant PRAD-CA 5 81367153 81367153 single base substitution G A intron_variant PRAD-CA 5 81413978 81413978 single base substitution T C intron_variant PRAD-CA 5 81414137 81414137 single base substitution A G intron_variant PRAD-CA 5 81423140 81423140 single base substitution C G intron_variant PRAD-CA 5 81430930 81430930 single base substitution C G intron_variant PRAD-CA 5 81530077 81530077 single base substitution G A intron_variant PRAD-CA 5 81554780 81554780 single base substitution T C downstream_gene_variant PRAD-CA 5 81554780 81554780 single base substitution T C intron_variant PRAD-CA 5 81567837 81567837 single base substitution C T intron_variant PRAD-UK 5 81265013 81265013 single base substitution T A upstream_gene_variant PRAD-UK 5 81289806 81289806 single base substitution T C intron_variant PRAD-UK 5 81291777 81291777 single base substitution C T intron_variant PRAD-UK 5 81295093 81295093 single base substitution C T intron_variant PRAD-UK 5 81299396 81299396 single base substitution A T intron_variant PRAD-UK 5 81310613 81310613 single base substitution G A intron_variant PRAD-UK 5 81335180 81335180 insertion of <=200bp - T intron_variant PRAD-UK 5 81335415 81335415 single base substitution T C intron_variant PRAD-UK 5 81335824 81335824 single base substitution C T intron_variant PRAD-UK 5 81336392 81336392 single base substitution T A intron_variant PRAD-UK 5 81359259 81359259 single base substitution A T intron_variant PRAD-UK 5 81384228 81384228 single base substitution G C intron_variant PRAD-UK 5 81390143 81390143 single base substitution G T intron_variant PRAD-UK 5 81401141 81401141 single base substitution A G intron_variant PRAD-UK 5 81421577 81421577 single base substitution C T intron_variant PRAD-UK 5 81429054 81429054 single base substitution G A intron_variant PRAD-UK 5 81434659 81434670 deletion of <=200bp TCCCTCCCCCTC - intron_variant PRAD-UK 5 81434763 81434763 single base substitution A T intron_variant PRAD-UK 5 81435830 81435830 single base substitution A T intron_variant PRAD-UK 5 81444349 81444349 single base substitution A C downstream_gene_variant PRAD-UK 5 81444349 81444349 single base substitution A C intron_variant PRAD-UK 5 81459181 81459181 single base substitution A G intron_variant PRAD-UK 5 81459181 81459181 single base substitution A G upstream_gene_variant PRAD-UK 5 81464146 81464146 single base substitution G T intron_variant PRAD-UK 5 81480105 81480105 single base substitution T C intron_variant PRAD-UK 5 81496520 81496520 single base substitution T C intron_variant PRAD-UK 5 81502606 81502606 single base substitution C A intron_variant PRAD-UK 5 81502734 81502734 insertion of <=200bp - TTA intron_variant PRAD-UK 5 81505153 81505153 single base substitution C T intron_variant PRAD-UK 5 81505877 81505877 single base substitution C T intron_variant PRAD-UK 5 81506452 81506452 single base substitution C A intron_variant PRAD-UK 5 81516777 81516777 single base substitution A T intron_variant PRAD-UK 5 81533149 81533149 single base substitution C G intron_variant PRAD-UK 5 81539792 81539792 deletion of <=200bp A - intron_variant PRAD-US 5 81354375 81354375 single base substitution C G exon_variant PRAD-US 5 81354375 81354375 single base substitution C G stop_gained S57* 170C>G READ-US 5 81283441 81283441 single base substitution G T exon_variant READ-US 5 81283441 81283441 single base substitution G T stop_gained E18* 52G>T READ-US 5 81283461 81283461 single base substitution A T exon_variant READ-US 5 81283461 81283461 single base substitution A T missense_variant Q24H 72A>T RECA-EU 5 81267537 81267537 single base substitution C A upstream_gene_variant RECA-EU 5 81283305 81283305 single base substitution A T intron_variant RECA-EU 5 81283305 81283305 single base substitution A T upstream_gene_variant RECA-EU 5 81289139 81289139 single base substitution T C intron_variant RECA-EU 5 81289143 81289143 single base substitution T C intron_variant RECA-EU 5 81297115 81297115 single base substitution A T intron_variant RECA-EU 5 81299311 81299311 single base substitution A T intron_variant RECA-EU 5 81303028 81303028 single base substitution A C intron_variant RECA-EU 5 81305841 81305841 single base substitution C A intron_variant RECA-EU 5 81308663 81308663 single base substitution G A intron_variant RECA-EU 5 81313516 81313516 single base substitution T G intron_variant RECA-EU 5 81320751 81320751 single base substitution T A intron_variant RECA-EU 5 81328012 81328012 single base substitution G T intron_variant RECA-EU 5 81332994 81332994 single base substitution T G intron_variant RECA-EU 5 81340494 81340494 single base substitution G C intron_variant RECA-EU 5 81358610 81358610 single base substitution A G intron_variant RECA-EU 5 81359472 81359472 single base substitution T A intron_variant RECA-EU 5 81377948 81377948 single base substitution A T intron_variant RECA-EU 5 81381170 81381170 single base substitution A T intron_variant RECA-EU 5 81386937 81386937 single base substitution A G intron_variant RECA-EU 5 81390861 81390861 single base substitution T C intron_variant RECA-EU 5 81402319 81402319 single base substitution G T intron_variant RECA-EU 5 81402319 81402319 single base substitution G T upstream_gene_variant RECA-EU 5 81409405 81409405 single base substitution A T intron_variant RECA-EU 5 81411976 81411976 single base substitution A T intron_variant RECA-EU 5 81412864 81412864 single base substitution A G intron_variant RECA-EU 5 81419487 81419487 single base substitution G A intron_variant RECA-EU 5 81421558 81421558 single base substitution A G intron_variant RECA-EU 5 81423034 81423034 single base substitution A G intron_variant RECA-EU 5 81428985 81428985 single base substitution T A intron_variant RECA-EU 5 81440901 81440901 single base substitution C G intron_variant RECA-EU 5 81457335 81457335 single base substitution G C intron_variant RECA-EU 5 81457335 81457335 single base substitution G C upstream_gene_variant RECA-EU 5 81460812 81460812 single base substitution G A intron_variant RECA-EU 5 81485486 81485486 single base substitution A T intron_variant RECA-EU 5 81486921 81486921 single base substitution A T intron_variant RECA-EU 5 81488720 81488720 single base substitution A G intron_variant RECA-EU 5 81508956 81508956 single base substitution A T intron_variant RECA-EU 5 81521903 81521903 single base substitution T A intron_variant RECA-EU 5 81557263 81557263 single base substitution T G intron_variant RECA-EU 5 81559396 81559396 single base substitution C T intron_variant RECA-EU 5 81561360 81561360 single base substitution C T intron_variant RECA-EU 5 81571005 81571005 single base substitution A G intron_variant RECA-EU 5 81571230 81571230 single base substitution T C intron_variant RECA-EU 5 81573514 81573514 single base substitution T C downstream_gene_variant RECA-EU 5 81576267 81576267 single base substitution G T downstream_gene_variant SKCA-BR 5 81264054 81264054 single base substitution G A upstream_gene_variant SKCA-BR 5 81264055 81264055 single base substitution G A upstream_gene_variant SKCA-BR 5 81266688 81266688 single base substitution A G upstream_gene_variant SKCA-BR 5 81267698 81267698 single base substitution T G upstream_gene_variant SKCA-BR 5 81267701 81267701 single base substitution T G upstream_gene_variant SKCA-BR 5 81270656 81270656 single base substitution C T intron_variant SKCA-BR 5 81274968 81274968 single base substitution C T intron_variant SKCA-BR 5 81278824 81278824 single base substitution T C intron_variant SKCA-BR 5 81278824 81278824 single base substitution T C upstream_gene_variant SKCA-BR 5 81279001 81279001 single base substitution A G intron_variant SKCA-BR 5 81279001 81279001 single base substitution A G upstream_gene_variant SKCA-BR 5 81279748 81279748 single base substitution A C intron_variant SKCA-BR 5 81279748 81279748 single base substitution A C upstream_gene_variant SKCA-BR 5 81281400 81281400 single base substitution C T intron_variant SKCA-BR 5 81281400 81281400 single base substitution C T upstream_gene_variant SKCA-BR 5 81281679 81281679 insertion of <=200bp - TC intron_variant SKCA-BR 5 81281679 81281679 insertion of <=200bp - TC upstream_gene_variant SKCA-BR 5 81282925 81282925 single base substitution G A intron_variant SKCA-BR 5 81282925 81282925 single base substitution G A upstream_gene_variant SKCA-BR 5 81287752 81287752 single base substitution C T downstream_gene_variant SKCA-BR 5 81287752 81287752 single base substitution C T intron_variant SKCA-BR 5 81288253 81288253 single base substitution C T downstream_gene_variant SKCA-BR 5 81288253 81288253 single base substitution C T intron_variant SKCA-BR 5 81289124 81289129 deletion of <=200bp TCTTTC - intron_variant SKCA-BR 5 81289163 81289163 single base substitution T C intron_variant SKCA-BR 5 81289176 81289179 deletion of <=200bp TTCC - intron_variant SKCA-BR 5 81289182 81289183 deletion of <=200bp CT - intron_variant SKCA-BR 5 81289185 81289187 deletion of <=200bp TTC - intron_variant SKCA-BR 5 81289186 81289186 single base substitution T C intron_variant SKCA-BR 5 81289188 81289188 single base substitution T C intron_variant SKCA-BR 5 81289191 81289191 single base substitution T C intron_variant SKCA-BR 5 81289193 81289193 insertion of <=200bp - TTC intron_variant SKCA-BR 5 81289194 81289194 single base substitution T C intron_variant SKCA-BR 5 81289203 81289203 single base substitution T C intron_variant SKCA-BR 5 81290768 81290768 single base substitution C T intron_variant SKCA-BR 5 81290945 81290945 insertion of <=200bp - ATG intron_variant SKCA-BR 5 81292877 81292877 single base substitution A C intron_variant SKCA-BR 5 81292933 81292933 single base substitution A C intron_variant SKCA-BR 5 81296977 81296977 single base substitution C T intron_variant SKCA-BR 5 81298298 81298298 single base substitution C T intron_variant SKCA-BR 5 81301560 81301560 single base substitution C T intron_variant SKCA-BR 5 81304764 81304764 single base substitution C T intron_variant SKCA-BR 5 81318257 81318257 single base substitution C T intron_variant SKCA-BR 5 81318587 81318587 single base substitution A C intron_variant SKCA-BR 5 81318881 81318881 single base substitution C T intron_variant SKCA-BR 5 81320260 81320260 single base substitution C T intron_variant SKCA-BR 5 81321912 81321912 single base substitution T C intron_variant SKCA-BR 5 81322660 81322660 single base substitution A C intron_variant SKCA-BR 5 81325031 81325031 single base substitution C T intron_variant SKCA-BR 5 81332431 81332431 single base substitution T A intron_variant SKCA-BR 5 81333585 81333585 single base substitution C T intron_variant SKCA-BR 5 81335237 81335237 single base substitution C T intron_variant SKCA-BR 5 81335238 81335238 single base substitution C T intron_variant SKCA-BR 5 81335957 81335957 single base substitution C T intron_variant SKCA-BR 5 81335958 81335958 single base substitution C T intron_variant SKCA-BR 5 81337107 81337107 single base substitution C T intron_variant SKCA-BR 5 81337866 81337866 single base substitution C T intron_variant SKCA-BR 5 81338207 81338207 single base substitution C T intron_variant SKCA-BR 5 81342800 81342801 deletion of <=200bp GT - intron_variant SKCA-BR 5 81344158 81344158 single base substitution C T intron_variant SKCA-BR 5 81344487 81344487 single base substitution C T intron_variant SKCA-BR 5 81344502 81344502 single base substitution G A intron_variant SKCA-BR 5 81345223 81345223 single base substitution T G intron_variant SKCA-BR 5 81345230 81345230 single base substitution A G intron_variant SKCA-BR 5 81345238 81345238 single base substitution A G intron_variant SKCA-BR 5 81346979 81346979 single base substitution A T intron_variant SKCA-BR 5 81351165 81351165 single base substitution C T intron_variant SKCA-BR 5 81355476 81355476 insertion of <=200bp - ACT intron_variant SKCA-BR 5 81355501 81355501 single base substitution C T intron_variant SKCA-BR 5 81363783 81363783 single base substitution G C intron_variant SKCA-BR 5 81365685 81365685 single base substitution G A intron_variant SKCA-BR 5 81367361 81367361 single base substitution G A intron_variant SKCA-BR 5 81369718 81369718 single base substitution G A intron_variant SKCA-BR 5 81373034 81373034 single base substitution C T intron_variant SKCA-BR 5 81373872 81373872 single base substitution C T intron_variant SKCA-BR 5 81375448 81375448 single base substitution C T intron_variant SKCA-BR 5 81377558 81377558 single base substitution G T intron_variant SKCA-BR 5 81380668 81380668 single base substitution G A intron_variant SKCA-BR 5 81382852 81382852 single base substitution C T intron_variant SKCA-BR 5 81382941 81382941 single base substitution A G intron_variant SKCA-BR 5 81383252 81383252 single base substitution C T intron_variant SKCA-BR 5 81385881 81385881 insertion of <=200bp - TA intron_variant SKCA-BR 5 81386036 81386036 single base substitution G A intron_variant SKCA-BR 5 81387450 81387450 single base substitution T A intron_variant SKCA-BR 5 81389903 81389903 single base substitution C T intron_variant SKCA-BR 5 81389928 81389928 single base substitution G A intron_variant SKCA-BR 5 81391950 81391950 single base substitution C T intron_variant SKCA-BR 5 81398084 81398084 single base substitution A G intron_variant SKCA-BR 5 81398895 81398895 single base substitution A G intron_variant SKCA-BR 5 81399604 81399604 single base substitution G C intron_variant SKCA-BR 5 81399806 81399806 single base substitution T C intron_variant SKCA-BR 5 81400044 81400044 single base substitution C T intron_variant SKCA-BR 5 81400234 81400234 single base substitution T A intron_variant SKCA-BR 5 81402252 81402252 single base substitution C G intron_variant SKCA-BR 5 81402252 81402252 single base substitution C G upstream_gene_variant SKCA-BR 5 81404614 81404614 single base substitution C T intron_variant SKCA-BR 5 81404614 81404614 single base substitution C T upstream_gene_variant SKCA-BR 5 81406882 81406882 single base substitution C A intron_variant SKCA-BR 5 81406882 81406882 single base substitution C A upstream_gene_variant SKCA-BR 5 81409632 81409632 single base substitution C T intron_variant SKCA-BR 5 81409654 81409654 single base substitution C T intron_variant SKCA-BR 5 81413040 81413040 single base substitution G A intron_variant SKCA-BR 5 81414191 81414191 single base substitution C T intron_variant SKCA-BR 5 81414219 81414219 insertion of <=200bp - ATATATATATATATATATATATATATATATAT intron_variant SKCA-BR 5 81414219 81414219 insertion of <=200bp - ATATATATATATATATATATATATAT intron_variant SKCA-BR 5 81414225 81414225 single base substitution G A intron_variant SKCA-BR 5 81414229 81414229 single base substitution G A intron_variant SKCA-BR 5 81419620 81419620 single base substitution T G intron_variant SKCA-BR 5 81420984 81420984 single base substitution C A intron_variant SKCA-BR 5 81421007 81421007 single base substitution C T intron_variant SKCA-BR 5 81421165 81421165 single base substitution C A intron_variant SKCA-BR 5 81421329 81421329 single base substitution A G intron_variant SKCA-BR 5 81422813 81422813 single base substitution C T intron_variant SKCA-BR 5 81422885 81422885 single base substitution C T intron_variant SKCA-BR 5 81423936 81423936 insertion of <=200bp - GT intron_variant SKCA-BR 5 81424242 81424242 single base substitution T G intron_variant SKCA-BR 5 81427888 81427888 single base substitution C T intron_variant SKCA-BR 5 81428261 81428261 single base substitution C A intron_variant SKCA-BR 5 81431449 81431449 single base substitution T A intron_variant SKCA-BR 5 81433335 81433335 single base substitution C T intron_variant SKCA-BR 5 81435073 81435073 single base substitution G C intron_variant SKCA-BR 5 81435695 81435695 single base substitution T C intron_variant SKCA-BR 5 81435795 81435795 single base substitution A G intron_variant SKCA-BR 5 81435995 81435995 single base substitution C T intron_variant SKCA-BR 5 81437359 81437359 single base substitution C T intron_variant SKCA-BR 5 81441953 81441953 single base substitution C T intron_variant SKCA-BR 5 81444324 81444324 single base substitution C T downstream_gene_variant SKCA-BR 5 81444324 81444324 single base substitution C T intron_variant SKCA-BR 5 81447311 81447311 single base substitution C T downstream_gene_variant SKCA-BR 5 81447311 81447311 single base substitution C T intron_variant SKCA-BR 5 81452940 81452940 single base substitution T G intron_variant SKCA-BR 5 81456278 81456278 single base substitution G A intron_variant SKCA-BR 5 81456278 81456278 single base substitution G A upstream_gene_variant SKCA-BR 5 81458334 81458334 single base substitution C T intron_variant SKCA-BR 5 81458334 81458334 single base substitution C T upstream_gene_variant SKCA-BR 5 81458654 81458654 single base substitution C G intron_variant SKCA-BR 5 81458654 81458654 single base substitution C G upstream_gene_variant SKCA-BR 5 81458671 81458671 single base substitution T G intron_variant SKCA-BR 5 81458671 81458671 single base substitution T G upstream_gene_variant SKCA-BR 5 81462896 81462896 single base substitution C T intron_variant SKCA-BR 5 81464298 81464298 single base substitution T G intron_variant SKCA-BR 5 81468767 81468767 single base substitution C T intron_variant SKCA-BR 5 81468891 81468891 single base substitution C T intron_variant SKCA-BR 5 81471644 81471644 single base substitution C T intron_variant SKCA-BR 5 81473670 81473670 single base substitution T C intron_variant SKCA-BR 5 81473673 81473673 single base substitution A C intron_variant SKCA-BR 5 81473829 81473829 single base substitution C T intron_variant SKCA-BR 5 81474139 81474139 single base substitution C T intron_variant SKCA-BR 5 81478287 81478287 single base substitution C T intron_variant SKCA-BR 5 81478393 81478393 single base substitution G A intron_variant SKCA-BR 5 81478394 81478394 single base substitution G A intron_variant SKCA-BR 5 81479213 81479214 deletion of <=200bp AT - intron_variant SKCA-BR 5 81479223 81479223 single base substitution T C intron_variant SKCA-BR 5 81479224 81479225 deletion of <=200bp CT - intron_variant SKCA-BR 5 81485215 81485215 single base substitution C T intron_variant SKCA-BR 5 81486592 81486595 deletion of <=200bp CAAA - intron_variant SKCA-BR 5 81487081 81487081 single base substitution C T intron_variant SKCA-BR 5 81488931 81488931 single base substitution C T intron_variant SKCA-BR 5 81490983 81490983 single base substitution C T intron_variant SKCA-BR 5 81493521 81493525 deletion of <=200bp TTTTC - intron_variant SKCA-BR 5 81495723 81495723 insertion of <=200bp - CTGGCTTCTTTCACTTAGCACATATATTT intron_variant SKCA-BR 5 81495974 81495974 single base substitution G A intron_variant SKCA-BR 5 81498242 81498242 single base substitution C T intron_variant SKCA-BR 5 81498627 81498627 single base substitution C T intron_variant SKCA-BR 5 81502251 81502251 single base substitution G A intron_variant SKCA-BR 5 81502468 81502468 single base substitution C T intron_variant SKCA-BR 5 81503368 81503368 single base substitution T A intron_variant SKCA-BR 5 81504675 81504675 single base substitution C T intron_variant SKCA-BR 5 81506142 81506142 single base substitution G A intron_variant SKCA-BR 5 81507578 81507578 single base substitution C T intron_variant SKCA-BR 5 81513871 81513871 insertion of <=200bp - TAC intron_variant SKCA-BR 5 81515747 81515747 single base substitution C T intron_variant SKCA-BR 5 81521526 81521526 single base substitution T G intron_variant SKCA-BR 5 81521557 81521557 single base substitution T G intron_variant SKCA-BR 5 81527193 81527193 single base substitution A C intron_variant SKCA-BR 5 81529354 81529358 deletion of <=200bp CGAAA - intron_variant SKCA-BR 5 81533287 81533287 single base substitution A C intron_variant SKCA-BR 5 81533411 81533411 single base substitution G A intron_variant SKCA-BR 5 81536332 81536332 single base substitution A G intron_variant SKCA-BR 5 81536375 81536375 single base substitution T G intron_variant SKCA-BR 5 81550066 81550066 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 81550066 81550066 single base substitution G A downstream_gene_variant SKCA-BR 5 81550066 81550066 single base substitution G A intron_variant SKCA-BR 5 81550377 81550378 deletion of <=200bp CG - 3_prime_UTR_variant SKCA-BR 5 81550377 81550378 deletion of <=200bp CG - downstream_gene_variant SKCA-BR 5 81550377 81550378 deletion of <=200bp CG - intron_variant SKCA-BR 5 81550380 81550380 insertion of <=200bp - GA 3_prime_UTR_variant SKCA-BR 5 81550380 81550380 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 5 81550380 81550380 insertion of <=200bp - GA intron_variant SKCA-BR 5 81550381 81550381 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 81550381 81550381 single base substitution G A downstream_gene_variant SKCA-BR 5 81550381 81550381 single base substitution G A intron_variant SKCA-BR 5 81550704 81550704 insertion of <=200bp - AGT 3_prime_UTR_variant SKCA-BR 5 81550704 81550704 insertion of <=200bp - AGT downstream_gene_variant SKCA-BR 5 81550704 81550704 insertion of <=200bp - AGT intron_variant SKCA-BR 5 81550708 81550708 single base substitution A T 3_prime_UTR_variant SKCA-BR 5 81550708 81550708 single base substitution A T downstream_gene_variant SKCA-BR 5 81550708 81550708 single base substitution A T intron_variant SKCA-BR 5 81551001 81551001 single base substitution T C 3_prime_UTR_variant SKCA-BR 5 81551001 81551001 single base substitution T C downstream_gene_variant SKCA-BR 5 81551001 81551001 single base substitution T C intron_variant SKCA-BR 5 81554304 81554305 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 5 81554304 81554305 deletion of <=200bp CT - intron_variant SKCA-BR 5 81554747 81554747 insertion of <=200bp - TATAC downstream_gene_variant SKCA-BR 5 81554747 81554747 insertion of <=200bp - TATAC intron_variant SKCA-BR 5 81559541 81559541 insertion of <=200bp - TTTTTTC intron_variant SKCA-BR 5 81559547 81559547 single base substitution C T intron_variant SKCA-BR 5 81559549 81559549 insertion of <=200bp - TTTTCTTTTTC intron_variant SKCA-BR 5 81559561 81559561 single base substitution C T intron_variant SKCA-BR 5 81559565 81559565 single base substitution T C intron_variant SKCA-BR 5 81561212 81561212 single base substitution C T intron_variant SKCA-BR 5 81564512 81564512 single base substitution A G intron_variant SKCA-BR 5 81570368 81570368 single base substitution G A intron_variant SKCA-BR 5 81572664 81572664 insertion of <=200bp - CAAAA downstream_gene_variant SKCA-BR 5 81572664 81572664 insertion of <=200bp - CAAAA exon_variant SKCA-BR 5 81577366 81577366 single base substitution G A downstream_gene_variant SKCM-US 5 81549195 81549195 single base substitution C T 3_prime_UTR_variant SKCM-US 5 81549195 81549195 single base substitution C T downstream_gene_variant SKCM-US 5 81549195 81549195 single base substitution C T intron_variant SKCM-US 5 81549195 81549195 single base substitution C T missense_variant P205L 614C>T STAD-US 5 81283388 81283399 deletion of <=200bp ACATGGAAGAAG - 5_prime_UTR_variant STAD-US 5 81283388 81283399 deletion of <=200bp ACATGGAAGAAG - start_lost MEED1 STAD-US 5 81474333 81474333 single base substitution A G exon_variant STAD-US 5 81474333 81474333 single base substitution A G missense_variant D127G 380A>G STAD-US 5 81474361 81474361 single base substitution T A exon_variant STAD-US 5 81474361 81474361 single base substitution T A stop_gained Y136* 408T>A STAD-US 5 81573573 81573573 single base substitution C T downstream_gene_variant STAD-US 5 81573622 81573622 single base substitution T G downstream_gene_variant THCA-SA 5 81550902 81550902 single base substitution A G 3_prime_UTR_variant THCA-SA 5 81550902 81550902 single base substitution A G downstream_gene_variant THCA-SA 5 81550902 81550902 single base substitution A G intron_variant UCEC-US 5 81460231 81460231 single base substitution T C exon_variant UCEC-US 5 81460231 81460231 single base substitution T C intron_variant UCEC-US 5 81460231 81460231 single base substitution T C missense_variant L77P 230T>C UCEC-US 5 81460231 81460231 single base substitution T C upstream_gene_variant UCEC-US 5 81474364 81474364 single base substitution G T exon_variant UCEC-US 5 81474364 81474364 single base substitution G T missense_variant K137N 411G>T UCEC-US 5 81549236 81549236 single base substitution G A 3_prime_UTR_variant UCEC-US 5 81549236 81549236 single base substitution G A downstream_gene_variant UCEC-US 5 81549236 81549236 single base substitution G A intron_variant UCEC-US 5 81549236 81549236 single base substitution G A missense_variant V219I 655G>A UCEC-US 5 81572316 81572316 single base substitution T C downstream_gene_variant UCEC-US 5 81572316 81572316 single base substitution T C exon_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand MB_Exm516 COSM215988 c.577C>G p.L193V Substitution - Missense 5:82253339-82253339 + 587376 COSM1183891 c.13G>T p.E5* Substitution - Nonsense 5:81987583-81987583 + LUAD-NYU1026 COSM368328 c.411G>C p.K137N Substitution - Missense 5:82178545-82178545 + HCC16 COSM1620606 c.455A>T p.E152V Substitution - Missense 5:82252563-82252563 + C086 COSM5527060 c.23G>A p.G8E Substitution - Missense 5:81987593-81987593 + TCGA-G4-6588-01 COSM5179167 c.265G>C p.A89P Substitution - Missense 5:82164447-82164447 + I2L-P7-Tumor-Organoid COSM5356319 c.217-10delT p.? Unknown 5:82164389-82164389 + TCGA-A6-6780-01 COSM1438928 c.501G>A p.K167K Substitution - coding silent 5:82252609-82252609 + 61 COSM5737281 c.521C>A p.P174H Substitution - Missense 5:82252629-82252629 + TCGA-D5-6927-01 COSM1438927 c.478delT p.F161fs*12 Deletion - Frameshift 5:82252586-82252586 + CHC2321T COSM3669483 c.656T>G p.V219G Substitution - Missense 5:82253418-82253418 + TCGA-BR-6452-01 COSM3856657 c.380A>G p.D127G Substitution - Missense 5:82178514-82178514 + 367 COSM3720902 c.579G>C p.L193L Substitution - coding silent 5:82253341-82253341 + TCGA-A6-6780-01 COSM1438927 c.478delT p.F161fs*12 Deletion - Frameshift 5:82252586-82252586 + I2L-P19Tb-Tumor-Organoid COSM5356319 c.217-10delT p.? Unknown 5:82164389-82164389 + TCGA-G9-6362-01 COSM1132099 c.170C>G p.S57* Substitution - Nonsense 5:82058556-82058556 + 587316 COSM1183890 c.415C>T p.R139* Substitution - Nonsense 5:82178549-82178549 + TCGA-C5-A1BQ-01 COSM4842675 c.645T>C p.D215D Substitution - coding silent 5:82253407-82253407 + CSCC-49-T COSM4476976 c.210C>T p.P70P Substitution - coding silent 5:82058596-82058596 + TCGA-D1-A103-01 COSM1070760 c.411G>T p.K137N Substitution - Missense 5:82178545-82178545 + Pat_63_B COSM5868893 c.325C>T p.P109S Substitution - Missense 5:82164507-82164507 + SC_9096 COSM4916433 c.446C>T p.T149M Substitution - Missense 5:82178580-82178580 + ESCC_158 COSM5646872 c.109G>T p.D37Y Substitution - Missense 5:82058495-82058495 + TCGA-D5-6540-01 COSM5163957 c.217-2delA p.? Unknown 5:82164397-82164397 + LUAD-5O6B5 COSM330714 c.485T>G p.V162G Substitution - Missense 5:82252593-82252593 + TCGA-AA-A010-01 COSM279028 c.397C>A p.H133N Substitution - Missense 5:82178531-82178531 + T55 COSM4663993 c.610C>T p.L204L Substitution - coding silent 5:82253372-82253372 + CHC2321T COSM3669483 c.656T>G p.V219G Substitution - Missense 5:82253418-82253418 + TCGA-CM-5861-01 COSM1438926 c.405C>A p.C135* Substitution - Nonsense 5:82178539-82178539 + PT48 COSM5931600 c.658C>T p.P220S Substitution - Missense 5:82253420-82253420 + LUAD-RT-S01818 COSM384077 c.600T>A p.V200V Substitution - coding silent 5:82253362-82253362 + SNUH_G16_S1 COSM4003616 c.184T>C p.S62P Substitution - Missense 5:82058570-82058570 + TCGA-F5-6814-01 COSM3429722 c.52G>T p.E18* Substitution - Nonsense 5:81987622-81987622 + pfg021T COSM1642800 c.373C>T p.L125L Substitution - coding silent 5:82178507-82178507 + TCGA-60-2722-01 COSM739049 c.560A>G p.N187S Substitution - Missense 5:82253322-82253322 + TCGA-HU-A4GP-01 COSM3856658 c.408T>A p.Y136* Substitution - Nonsense 5:82178542-82178542 + HCC16T COSM1620606 c.455A>T p.E152V Substitution - Missense 5:82252563-82252563 + TCGA-BQ-5884-01 COSM3994490 c.421C>A p.L141I Substitution - Missense 5:82178555-82178555 + S02348 COSM5694479 c.274G>T p.E92* Substitution - Nonsense 5:82164456-82164456 + PR-01-2554 COSM243095 c.54A>C p.E18D Substitution - Missense 5:81987624-81987624 + 063T COSM1730215 c.500A>T p.K167M Substitution - Missense 5:82252608-82252608 + TCGA-EI-6507-01 COSM1568174 c.72A>T p.Q24H Substitution - Missense 5:81987642-81987642 + TCGA-D1-A176-01 COSM1070759 c.230T>C p.L77P Substitution - Missense 5:82164412-82164412 + TCGA-D3-A1QA-06 COSM3618374 c.614C>T p.P205L Substitution - Missense 5:82253376-82253376 + TCGA-A6-6140-01 COSM5090692 c.72A>G p.Q24Q Substitution - coding silent 5:81987642-81987642 + TCGA-BW-A5NO-01 COSM4933133 c.531G>T p.K177N Substitution - Missense 5:82252639-82252639 + RK046_C02 COSM1634348 c.140A>G p.H47R Substitution - Missense 5:82058526-82058526 + TCGA-DD-A4NV-01 COSM4916433 c.446C>T p.T149M Substitution - Missense 5:82178580-82178580 + CSCC-27-T COSM4453822 c.354A>G p.L118L Substitution - coding silent 5:82164536-82164536 + TCGA-AP-A051-01 COSM1070761 c.655G>A p.V219I Substitution - Missense 5:82253417-82253417 + CSCC-27-T COSM3139443 c.349delT p.L118fs*1 Deletion - Frameshift 5:82164531-82164531 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.713694;Hs.713695;Hs.713696;Hs.713698 5q14.1 610800 1230771|dbSNP|BC029268|A/G|non-coding||1354|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.453+34412A>C 5 81508818 CLL A G Missense p.H47R c.140A>G 5 81354345 HC A G Missense p.N187S c.560A>G 5 81549141 LUSC C G Missense p.L193V c.577C>G 5 81549158 MB C G Nonsense p.S57* c.170C>G 5 81354375 PRAD C T Missense p.P205L c.614C>T 5 81549195 CM C T Synonymous p.L125L c.373C>T 5 81474326 STAD G A IntronicSNV . c.108+22086G>A 5 81305583 CM G C Synonymous p.L193L c.579G>C 5 81549160 HNSC G T IntronicSNV . c.108+22254G>T 5 81305751 NSCLC G T IntronicSNV . c.108+33974G>T 5 81317471 CLL T C Missense p.L77P c.230T>C 5 81460231 UCEC T G Missense p.I85M c.255T>G 5 81460256 LUAD