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 BRCA 8 74717957 74717957 + Missense_Mutation SNP C C T TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 g.chr8:74717957C>T c.371G>A c.(370-372)cGa>cAa p.R124Q COAD 8 74706352 74706352 + Splice_Site SNP T T C TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr8:74706352T>C c.e6-2 COAD 8 74717931 74717931 + Nonsense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr8:74717931G>A c.397C>T c.(397-399)Cga>Tga p.R133* COAD 8 74722772 74722772 + Silent SNP T T G TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr8:74722772T>G c.303A>C c.(301-303)ccA>ccC p.P101P COADREAD 8 74706352 74706352 + Splice_Site SNP T T C TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr8:74706352T>C c.e6-2 COADREAD 8 74717931 74717931 + Nonsense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr8:74717931G>A c.397C>T c.(397-399)Cga>Tga p.R133* COADREAD 8 74722772 74722772 + Silent SNP T T G TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr8:74722772T>G c.303A>C c.(301-303)ccA>ccC p.P101P GBMLGG 8 74737473 74737473 + Missense_Mutation SNP T T C TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 g.chr8:74737473T>C c.119A>G c.(118-120)gAc>gGc p.D40G KIPAN 8 74742665 74742665 + Missense_Mutation SNP G G T TCGA-B8-5163-01A-01D-1421-08 TCGA-B8-5163-10A-01D-1421-08 g.chr8:74742665G>T c.58C>A c.(58-60)Cct>Act p.P20T KIRC 8 74742665 74742665 + Missense_Mutation SNP G G T TCGA-B8-5163-01A-01D-1421-08 TCGA-B8-5163-10A-01D-1421-08 g.chr8:74742665G>T c.58C>A c.(58-60)Cct>Act p.P20T LGG 8 74737473 74737473 + Missense_Mutation SNP T T C TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 g.chr8:74737473T>C c.119A>G c.(118-120)gAc>gGc p.D40G LUAD 8 74742658 74742658 + Missense_Mutation SNP C C A TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr8:74742658C>A c.65G>T c.(64-66)gGa>gTa p.G22V LUAD 8 74742676 74742676 + Missense_Mutation SNP T T A TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr8:74742676T>A c.47A>T c.(46-48)cAa>cTa p.Q16L PCPG 8 74737421 74737421 + Frame_Shift_Del DEL T T - TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 g.chr8:74737421delT c.171delA c.(169-171)ctafs p.L57fs SKCM 8 74722759 74722759 + Nonsense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:74722759G>A c.316C>T c.(316-318)Caa>Taa p.Q106* SKCM 8 74782503 74782503 + Intron SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr8:74782503C>T

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 8 74795021 74795021 single base substitution T A upstream_gene_variant BRCA-EU 8 74687525 74687525 single base substitution C T downstream_gene_variant BRCA-EU 8 74687540 74687540 single base substitution A T downstream_gene_variant BRCA-EU 8 74687589 74687589 single base substitution C T downstream_gene_variant BRCA-EU 8 74687741 74687741 single base substitution C T downstream_gene_variant BRCA-EU 8 74687895 74687895 single base substitution C G downstream_gene_variant BRCA-EU 8 74688004 74688004 single base substitution C A downstream_gene_variant BRCA-EU 8 74688016 74688016 single base substitution C T downstream_gene_variant BRCA-EU 8 74689295 74689295 single base substitution G C downstream_gene_variant BRCA-EU 8 74689568 74689568 single base substitution A G downstream_gene_variant BRCA-EU 8 74690347 74690347 single base substitution G A downstream_gene_variant BRCA-EU 8 74691774 74691774 single base substitution C T downstream_gene_variant BRCA-EU 8 74691812 74691812 single base substitution C T downstream_gene_variant BRCA-EU 8 74691958 74691958 single base substitution C G downstream_gene_variant BRCA-EU 8 74692018 74692018 single base substitution C T downstream_gene_variant BRCA-EU 8 74692020 74692020 single base substitution C A downstream_gene_variant BRCA-EU 8 74692549 74692549 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 74692689 74692689 single base substitution C G 3_prime_UTR_variant BRCA-EU 8 74693165 74693165 single base substitution C G intron_variant BRCA-EU 8 74693623 74693623 single base substitution A G downstream_gene_variant BRCA-EU 8 74693623 74693623 single base substitution A G intron_variant BRCA-EU 8 74694014 74694014 single base substitution A G downstream_gene_variant BRCA-EU 8 74694014 74694014 single base substitution A G intron_variant BRCA-EU 8 74695257 74695257 single base substitution T C downstream_gene_variant BRCA-EU 8 74695257 74695257 single base substitution T C intron_variant BRCA-EU 8 74696193 74696193 single base substitution C G downstream_gene_variant BRCA-EU 8 74696193 74696193 single base substitution C G intron_variant BRCA-EU 8 74697032 74697032 single base substitution A G downstream_gene_variant BRCA-EU 8 74697032 74697032 single base substitution A G intron_variant BRCA-EU 8 74697489 74697489 insertion of <=200bp - T downstream_gene_variant BRCA-EU 8 74697489 74697489 insertion of <=200bp - T intron_variant BRCA-EU 8 74699165 74699165 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 74699165 74699165 single base substitution G A downstream_gene_variant BRCA-EU 8 74699165 74699165 single base substitution G A intron_variant BRCA-EU 8 74699553 74699553 single base substitution G C 3_prime_UTR_variant BRCA-EU 8 74699553 74699553 single base substitution G C downstream_gene_variant BRCA-EU 8 74699553 74699553 single base substitution G C intron_variant BRCA-EU 8 74699569 74699569 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 74699569 74699569 single base substitution G A downstream_gene_variant BRCA-EU 8 74699569 74699569 single base substitution G A intron_variant BRCA-EU 8 74701715 74701715 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 74701715 74701715 single base substitution G A downstream_gene_variant BRCA-EU 8 74701715 74701715 single base substitution G A intron_variant BRCA-EU 8 74702074 74702077 deletion of <=200bp AAAT - 3_prime_UTR_variant BRCA-EU 8 74702074 74702077 deletion of <=200bp AAAT - downstream_gene_variant BRCA-EU 8 74702074 74702077 deletion of <=200bp AAAT - intron_variant BRCA-EU 8 74702392 74702392 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 74702392 74702392 single base substitution G A downstream_gene_variant BRCA-EU 8 74702392 74702392 single base substitution G A intron_variant BRCA-EU 8 74702898 74702898 single base substitution C A 3_prime_UTR_variant BRCA-EU 8 74702898 74702898 single base substitution C A downstream_gene_variant BRCA-EU 8 74702898 74702898 single base substitution C A intron_variant BRCA-EU 8 74703086 74703086 single base substitution T G 3_prime_UTR_variant BRCA-EU 8 74703086 74703086 single base substitution T G downstream_gene_variant BRCA-EU 8 74703086 74703086 single base substitution T G intron_variant BRCA-EU 8 74703464 74703464 single base substitution C G 3_prime_UTR_variant BRCA-EU 8 74703464 74703464 single base substitution C G downstream_gene_variant BRCA-EU 8 74703464 74703464 single base substitution C G intron_variant BRCA-EU 8 74703615 74703615 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 8 74703615 74703615 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 74703615 74703615 deletion of <=200bp T - intron_variant BRCA-EU 8 74705212 74705212 single base substitution C G 3_prime_UTR_variant BRCA-EU 8 74705212 74705212 single base substitution C G downstream_gene_variant BRCA-EU 8 74705212 74705212 single base substitution C G intron_variant BRCA-EU 8 74705985 74705990 deletion of <=200bp GGCAAT - 3_prime_UTR_variant BRCA-EU 8 74705985 74705990 deletion of <=200bp GGCAAT - downstream_gene_variant BRCA-EU 8 74705985 74705990 deletion of <=200bp GGCAAT - intron_variant BRCA-EU 8 74707759 74707759 single base substitution A G intron_variant BRCA-EU 8 74707939 74707939 single base substitution C T intron_variant BRCA-EU 8 74708023 74708023 single base substitution C T intron_variant BRCA-EU 8 74708023 74708023 single base substitution C T splice_region_variant BRCA-EU 8 74708189 74708189 single base substitution T A intron_variant BRCA-EU 8 74708495 74708495 single base substitution C G intron_variant BRCA-EU 8 74708608 74708608 single base substitution C A intron_variant BRCA-EU 8 74709003 74709003 single base substitution C G intron_variant BRCA-EU 8 74711633 74711633 single base substitution C A intron_variant BRCA-EU 8 74711743 74711743 single base substitution A T intron_variant BRCA-EU 8 74714053 74714053 single base substitution G T intron_variant BRCA-EU 8 74714054 74714054 single base substitution A T intron_variant BRCA-EU 8 74714375 74714375 single base substitution A G intron_variant BRCA-EU 8 74714732 74714732 single base substitution G C intron_variant BRCA-EU 8 74714745 74714745 single base substitution C G intron_variant BRCA-EU 8 74714815 74714815 single base substitution A G intron_variant BRCA-EU 8 74715088 74715088 single base substitution C G intron_variant BRCA-EU 8 74715883 74715883 single base substitution C G intron_variant BRCA-EU 8 74718365 74718365 single base substitution G A intron_variant BRCA-EU 8 74718650 74718650 single base substitution A C intron_variant BRCA-EU 8 74718655 74718655 single base substitution C T intron_variant BRCA-EU 8 74721685 74721685 single base substitution G A intron_variant BRCA-EU 8 74724629 74724629 single base substitution C T intron_variant BRCA-EU 8 74725017 74725017 single base substitution C T intron_variant BRCA-EU 8 74726482 74726482 insertion of <=200bp - T intron_variant BRCA-EU 8 74727447 74727447 deletion of <=200bp A - intron_variant BRCA-EU 8 74727590 74727590 single base substitution C T intron_variant BRCA-EU 8 74729950 74729950 single base substitution G A intron_variant BRCA-EU 8 74730350 74730360 deletion of <=200bp AATTGGTTGCT - intron_variant BRCA-EU 8 74730638 74730638 single base substitution C T intron_variant BRCA-EU 8 74731609 74731609 single base substitution C G intron_variant BRCA-EU 8 74731880 74731880 single base substitution G C intron_variant BRCA-EU 8 74732032 74732032 single base substitution T A intron_variant BRCA-EU 8 74732603 74732603 single base substitution G T intron_variant BRCA-EU 8 74733068 74733068 single base substitution C A intron_variant BRCA-EU 8 74733356 74733356 single base substitution G A intron_variant BRCA-EU 8 74735272 74735272 single base substitution T A intron_variant BRCA-EU 8 74735375 74735375 single base substitution A C intron_variant BRCA-EU 8 74735623 74735623 single base substitution C A intron_variant BRCA-EU 8 74735952 74735952 single base substitution T C intron_variant BRCA-EU 8 74737468 74737468 single base substitution C G intron_variant BRCA-EU 8 74737468 74737468 single base substitution C G missense_variant E37Q 109G>C BRCA-EU 8 74737468 74737468 single base substitution C G missense_variant E42Q 124G>C BRCA-EU 8 74737468 74737468 single base substitution C G missense_variant E53Q 157G>C BRCA-EU 8 74737468 74737468 single base substitution C G missense_variant E71Q 211G>C BRCA-EU 8 74737468 74737468 single base substitution C G missense_variant E82Q 244G>C BRCA-EU 8 74738607 74738607 single base substitution T G intron_variant BRCA-EU 8 74739410 74739410 single base substitution C T intron_variant BRCA-EU 8 74740456 74740456 single base substitution C A intron_variant BRCA-EU 8 74742079 74742079 insertion of <=200bp - T intron_variant BRCA-EU 8 74742527 74742527 single base substitution G C intron_variant BRCA-EU 8 74742837 74742837 single base substitution C T intron_variant BRCA-EU 8 74742837 74742837 single base substitution C T upstream_gene_variant BRCA-EU 8 74743402 74743402 single base substitution C T intron_variant BRCA-EU 8 74743402 74743402 single base substitution C T upstream_gene_variant BRCA-EU 8 74743963 74743963 single base substitution A T intron_variant BRCA-EU 8 74743963 74743963 single base substitution A T upstream_gene_variant BRCA-EU 8 74743964 74743964 single base substitution T A intron_variant BRCA-EU 8 74743964 74743964 single base substitution T A upstream_gene_variant BRCA-EU 8 74745671 74745671 single base substitution A C intron_variant BRCA-EU 8 74745671 74745671 single base substitution A C upstream_gene_variant BRCA-EU 8 74746238 74746238 single base substitution C T intron_variant BRCA-EU 8 74746238 74746238 single base substitution C T upstream_gene_variant BRCA-EU 8 74747071 74747071 single base substitution G A intron_variant BRCA-EU 8 74747071 74747071 single base substitution G A upstream_gene_variant BRCA-EU 8 74747372 74747372 single base substitution C T intron_variant BRCA-EU 8 74747372 74747372 single base substitution C T upstream_gene_variant BRCA-EU 8 74747533 74747533 single base substitution G A intron_variant BRCA-EU 8 74747533 74747533 single base substitution G A upstream_gene_variant BRCA-EU 8 74747727 74747727 single base substitution C G intron_variant BRCA-EU 8 74748628 74748628 single base substitution A G intron_variant BRCA-EU 8 74749007 74749007 single base substitution A G intron_variant BRCA-EU 8 74750319 74750319 single base substitution G C intron_variant BRCA-EU 8 74750661 74750661 single base substitution G A intron_variant BRCA-EU 8 74752340 74752340 single base substitution G A intron_variant BRCA-EU 8 74753463 74753463 single base substitution G C intron_variant BRCA-EU 8 74753740 74753740 single base substitution G A intron_variant BRCA-EU 8 74754389 74754389 single base substitution A G intron_variant BRCA-EU 8 74755267 74755267 single base substitution G T intron_variant BRCA-EU 8 74755666 74755666 single base substitution A C intron_variant BRCA-EU 8 74756196 74756196 single base substitution C G intron_variant BRCA-EU 8 74756934 74756934 single base substitution G A intron_variant BRCA-EU 8 74758132 74758132 deletion of <=200bp A - intron_variant BRCA-EU 8 74759731 74759731 deletion of <=200bp C - intron_variant BRCA-EU 8 74760995 74760995 single base substitution C A intron_variant BRCA-EU 8 74761389 74761389 single base substitution G T intron_variant BRCA-EU 8 74764079 74764079 single base substitution G T intron_variant BRCA-EU 8 74764823 74764823 deletion of <=200bp A - intron_variant BRCA-EU 8 74765195 74765195 single base substitution C T intron_variant BRCA-EU 8 74766842 74766842 single base substitution C A intron_variant BRCA-EU 8 74766976 74766976 single base substitution G T intron_variant BRCA-EU 8 74767678 74767678 single base substitution C T intron_variant BRCA-EU 8 74767804 74767804 deletion of <=200bp T - intron_variant BRCA-EU 8 74767953 74767953 single base substitution C A intron_variant BRCA-EU 8 74767953 74767953 single base substitution C G intron_variant BRCA-EU 8 74768264 74768264 single base substitution C G intron_variant BRCA-EU 8 74768305 74768305 single base substitution C G intron_variant BRCA-EU 8 74768527 74768527 single base substitution C A intron_variant BRCA-EU 8 74770422 74770422 single base substitution C G intron_variant BRCA-EU 8 74770751 74770751 single base substitution C T intron_variant BRCA-EU 8 74771048 74771048 single base substitution T G intron_variant BRCA-EU 8 74771281 74771281 single base substitution G C intron_variant BRCA-EU 8 74771509 74771509 single base substitution G T intron_variant BRCA-EU 8 74771920 74771920 single base substitution T A intron_variant BRCA-EU 8 74771928 74771928 single base substitution G A intron_variant BRCA-EU 8 74771988 74771988 single base substitution A C intron_variant BRCA-EU 8 74772220 74772220 single base substitution G A intron_variant BRCA-EU 8 74773497 74773497 single base substitution G C intron_variant BRCA-EU 8 74774052 74774052 single base substitution T A intron_variant BRCA-EU 8 74774062 74774062 single base substitution G C intron_variant BRCA-EU 8 74774728 74774728 single base substitution T A intron_variant BRCA-EU 8 74775743 74775743 single base substitution G C intron_variant BRCA-EU 8 74775888 74775888 single base substitution G A intron_variant BRCA-EU 8 74776367 74776367 single base substitution G A intron_variant BRCA-EU 8 74776673 74776673 single base substitution C G intron_variant BRCA-EU 8 74777114 74777114 single base substitution C T intron_variant BRCA-EU 8 74777535 74777535 single base substitution A G intron_variant BRCA-EU 8 74778436 74778436 single base substitution G T intron_variant BRCA-EU 8 74778836 74778836 insertion of <=200bp - A intron_variant BRCA-EU 8 74779403 74779403 single base substitution C A intron_variant BRCA-EU 8 74779685 74779685 single base substitution G A intron_variant BRCA-EU 8 74779697 74779697 single base substitution G A intron_variant BRCA-EU 8 74779766 74779766 single base substitution C G intron_variant BRCA-EU 8 74780696 74780696 single base substitution G A intron_variant BRCA-EU 8 74780999 74780999 single base substitution G C intron_variant BRCA-EU 8 74781586 74781586 single base substitution G A intron_variant BRCA-EU 8 74781912 74781912 single base substitution C T intron_variant BRCA-EU 8 74782486 74782486 deletion of <=200bp A - intron_variant BRCA-EU 8 74783617 74783617 single base substitution G A intron_variant BRCA-EU 8 74788036 74788036 single base substitution G C intron_variant BRCA-EU 8 74788768 74788768 single base substitution G C intron_variant BRCA-EU 8 74789040 74789040 single base substitution C G intron_variant BRCA-EU 8 74789542 74789542 single base substitution G A intron_variant BRCA-EU 8 74790360 74790360 single base substitution C G intron_variant BRCA-EU 8 74790710 74790710 single base substitution G A intron_variant BRCA-EU 8 74791084 74791084 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 8 74791084 74791084 single base substitution G A missense_variant R21C 61C>T BRCA-EU 8 74791084 74791084 single base substitution G A upstream_gene_variant BRCA-EU 8 74791297 74791297 single base substitution C T upstream_gene_variant BRCA-EU 8 74791898 74791902 deletion of <=200bp CCAGA - upstream_gene_variant BRCA-EU 8 74792791 74792791 single base substitution A G upstream_gene_variant BRCA-EU 8 74793097 74793097 single base substitution C A upstream_gene_variant BRCA-EU 8 74793434 74793434 single base substitution T A upstream_gene_variant BRCA-EU 8 74793620 74793620 single base substitution G T upstream_gene_variant BRCA-EU 8 74794300 74794300 single base substitution C A upstream_gene_variant BRCA-EU 8 74796091 74796091 single base substitution C T upstream_gene_variant BRCA-FR 8 74687525 74687525 single base substitution C T downstream_gene_variant BRCA-FR 8 74687540 74687540 single base substitution A T downstream_gene_variant BRCA-FR 8 74687741 74687741 single base substitution C T downstream_gene_variant BRCA-FR 8 74687822 74687822 single base substitution C T downstream_gene_variant BRCA-FR 8 74688004 74688004 single base substitution C A downstream_gene_variant BRCA-FR 8 74688016 74688016 single base substitution C T downstream_gene_variant BRCA-FR 8 74691812 74691812 single base substitution C T downstream_gene_variant BRCA-FR 8 74691818 74691818 single base substitution C G downstream_gene_variant BRCA-FR 8 74691958 74691958 single base substitution C G downstream_gene_variant BRCA-FR 8 74692018 74692018 single base substitution C T downstream_gene_variant BRCA-FR 8 74692020 74692020 single base substitution C A downstream_gene_variant BRCA-FR 8 74692549 74692549 single base substitution C T 3_prime_UTR_variant BRCA-FR 8 74692689 74692689 single base substitution C G 3_prime_UTR_variant BRCA-FR 8 74696200 74696200 single base substitution G A downstream_gene_variant BRCA-FR 8 74696200 74696200 single base substitution G A intron_variant BRCA-FR 8 74697840 74697840 single base substitution T C downstream_gene_variant BRCA-FR 8 74697840 74697840 single base substitution T C intron_variant BRCA-FR 8 74699569 74699569 single base substitution G A 3_prime_UTR_variant BRCA-FR 8 74699569 74699569 single base substitution G A downstream_gene_variant BRCA-FR 8 74699569 74699569 single base substitution G A intron_variant BRCA-FR 8 74703994 74703994 single base substitution T C 3_prime_UTR_variant BRCA-FR 8 74703994 74703994 single base substitution T C downstream_gene_variant BRCA-FR 8 74703994 74703994 single base substitution T C intron_variant BRCA-FR 8 74705145 74705145 single base substitution A G 3_prime_UTR_variant BRCA-FR 8 74705145 74705145 single base substitution A G downstream_gene_variant BRCA-FR 8 74705145 74705145 single base substitution A G intron_variant BRCA-FR 8 74731880 74731880 single base substitution G C intron_variant BRCA-FR 8 74735375 74735375 single base substitution A C intron_variant BRCA-FR 8 74735623 74735623 single base substitution C A intron_variant BRCA-FR 8 74738607 74738607 single base substitution T G intron_variant BRCA-FR 8 74742527 74742527 single base substitution G C intron_variant BRCA-FR 8 74747071 74747071 single base substitution G A intron_variant BRCA-FR 8 74747071 74747071 single base substitution G A upstream_gene_variant BRCA-FR 8 74747533 74747533 single base substitution G A intron_variant BRCA-FR 8 74747533 74747533 single base substitution G A upstream_gene_variant BRCA-FR 8 74756151 74756151 single base substitution G A intron_variant BRCA-FR 8 74759391 74759391 single base substitution G C intron_variant BRCA-FR 8 74761389 74761389 single base substitution G T intron_variant BRCA-FR 8 74768527 74768527 single base substitution C A intron_variant BRCA-FR 8 74769779 74769779 single base substitution G A intron_variant BRCA-FR 8 74779697 74779697 single base substitution G A intron_variant BRCA-FR 8 74780999 74780999 single base substitution G C intron_variant BRCA-FR 8 74783617 74783617 single base substitution G A intron_variant BRCA-FR 8 74791084 74791084 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 8 74791084 74791084 single base substitution G A missense_variant R21C 61C>T BRCA-FR 8 74791084 74791084 single base substitution G A upstream_gene_variant BRCA-UK 8 74711633 74711633 single base substitution C A intron_variant BRCA-UK 8 74723097 74723097 single base substitution C T intron_variant BRCA-UK 8 74747467 74747467 single base substitution G A intron_variant BRCA-UK 8 74747467 74747467 single base substitution G A upstream_gene_variant BRCA-UK 8 74762230 74762230 single base substitution G T intron_variant BRCA-UK 8 74766842 74766842 single base substitution C A intron_variant BRCA-UK 8 74771611 74771611 single base substitution C G intron_variant BRCA-UK 8 74771920 74771920 single base substitution T A intron_variant BRCA-UK 8 74771928 74771928 single base substitution G A intron_variant BRCA-US 8 74717957 74717957 single base substitution C T 3_prime_UTR_variant BRCA-US 8 74717957 74717957 single base substitution C T missense_variant R119Q 356G>A BRCA-US 8 74717957 74717957 single base substitution C T missense_variant R124Q 371G>A BRCA-US 8 74717957 74717957 single base substitution C T missense_variant R135Q 404G>A BRCA-US 8 74717957 74717957 single base substitution C T missense_variant R153Q 458G>A BRCA-US 8 74717957 74717957 single base substitution C T missense_variant R164Q 491G>A BTCA-JP 8 74737352 74737352 deletion of <=200bp A - intron_variant BTCA-JP 8 74744659 74744659 single base substitution T C intron_variant BTCA-JP 8 74744659 74744659 single base substitution T C upstream_gene_variant BTCA-JP 8 74782486 74782486 deletion of <=200bp A - intron_variant BTCA-JP 8 74782615 74782615 single base substitution G C intron_variant BTCA-JP 8 74790976 74790976 single base substitution C A intron_variant BTCA-JP 8 74791099 74791099 deletion of <=200bp G - 5_prime_UTR_variant BTCA-JP 8 74791099 74791099 deletion of <=200bp G - frameshift_variant L16 BTCA-JP 8 74791099 74791099 deletion of <=200bp G - upstream_gene_variant CLLE-ES 8 74717700 74717700 single base substitution A C intron_variant CLLE-ES 8 74724539 74724539 single base substitution A C intron_variant CLLE-ES 8 74751605 74751605 single base substitution A T intron_variant CLLE-ES 8 74763916 74763916 single base substitution C T intron_variant CLLE-ES 8 74781409 74781409 single base substitution G A intron_variant COAD-US 8 74717931 74717931 single base substitution G A 3_prime_UTR_variant COAD-US 8 74717931 74717931 single base substitution G A stop_gained R128* 382C>T COAD-US 8 74717931 74717931 single base substitution G A stop_gained R133* 397C>T COAD-US 8 74717931 74717931 single base substitution G A stop_gained R144* 430C>T COAD-US 8 74717931 74717931 single base substitution G A stop_gained R162* 484C>T COAD-US 8 74717931 74717931 single base substitution G A stop_gained R173* 517C>T COCA-CN 8 74691485 74691485 single base substitution A G downstream_gene_variant COCA-CN 8 74700869 74700869 single base substitution G A 3_prime_UTR_variant COCA-CN 8 74700869 74700869 single base substitution G A downstream_gene_variant COCA-CN 8 74700869 74700869 single base substitution G A intron_variant COCA-CN 8 74703503 74703503 single base substitution A G 3_prime_UTR_variant COCA-CN 8 74703503 74703503 single base substitution A G downstream_gene_variant COCA-CN 8 74703503 74703503 single base substitution A G intron_variant COCA-CN 8 74706368 74706368 single base substitution A C intron_variant COCA-CN 8 74717737 74717737 single base substitution A T intron_variant COCA-CN 8 74717952 74717952 single base substitution G A 3_prime_UTR_variant COCA-CN 8 74717952 74717952 single base substitution G A missense_variant P121S 361C>T COCA-CN 8 74717952 74717952 single base substitution G A missense_variant P126S 376C>T COCA-CN 8 74717952 74717952 single base substitution G A missense_variant P137S 409C>T COCA-CN 8 74717952 74717952 single base substitution G A missense_variant P155S 463C>T COCA-CN 8 74717952 74717952 single base substitution G A missense_variant P166S 496C>T COCA-CN 8 74732991 74732991 single base substitution C A intron_variant COCA-CN 8 74733562 74733562 single base substitution T G intron_variant COCA-CN 8 74737592 74737592 single base substitution T C intron_variant COCA-CN 8 74739444 74739444 single base substitution C T intron_variant COCA-CN 8 74757345 74757345 single base substitution T C intron_variant COCA-CN 8 74764199 74764199 single base substitution A T intron_variant COCA-CN 8 74770691 74770691 single base substitution T C intron_variant COCA-CN 8 74782411 74782411 single base substitution T C intron_variant COCA-CN 8 74782494 74782494 single base substitution A G intron_variant COCA-CN 8 74790898 74790898 single base substitution C A intron_variant ESAD-UK 8 74687958 74687958 single base substitution G A downstream_gene_variant ESAD-UK 8 74690383 74690383 single base substitution G A downstream_gene_variant ESAD-UK 8 74690529 74690529 single base substitution C T downstream_gene_variant ESAD-UK 8 74691038 74691038 insertion of <=200bp - TC downstream_gene_variant ESAD-UK 8 74691159 74691159 single base substitution A T downstream_gene_variant ESAD-UK 8 74692276 74692276 single base substitution G C downstream_gene_variant ESAD-UK 8 74693378 74693378 single base substitution G A intron_variant ESAD-UK 8 74693884 74693884 single base substitution G T downstream_gene_variant ESAD-UK 8 74693884 74693884 single base substitution G T intron_variant ESAD-UK 8 74694386 74694386 single base substitution G T downstream_gene_variant ESAD-UK 8 74694386 74694386 single base substitution G T intron_variant ESAD-UK 8 74695502 74695502 single base substitution G A downstream_gene_variant ESAD-UK 8 74695502 74695502 single base substitution G A intron_variant ESAD-UK 8 74696701 74696701 single base substitution C T downstream_gene_variant ESAD-UK 8 74696701 74696701 single base substitution C T intron_variant ESAD-UK 8 74696970 74696970 single base substitution G C downstream_gene_variant ESAD-UK 8 74696970 74696970 single base substitution G C intron_variant ESAD-UK 8 74697780 74697780 single base substitution C T downstream_gene_variant ESAD-UK 8 74697780 74697780 single base substitution C T intron_variant ESAD-UK 8 74700351 74700351 single base substitution C G 3_prime_UTR_variant ESAD-UK 8 74700351 74700351 single base substitution C G downstream_gene_variant ESAD-UK 8 74700351 74700351 single base substitution C G intron_variant ESAD-UK 8 74700447 74700447 single base substitution G A 3_prime_UTR_variant ESAD-UK 8 74700447 74700447 single base substitution G A downstream_gene_variant ESAD-UK 8 74700447 74700447 single base substitution G A intron_variant ESAD-UK 8 74700768 74700768 single base substitution T C 3_prime_UTR_variant ESAD-UK 8 74700768 74700768 single base substitution T C downstream_gene_variant ESAD-UK 8 74700768 74700768 single base substitution T C intron_variant ESAD-UK 8 74700997 74700997 single base substitution G A 3_prime_UTR_variant ESAD-UK 8 74700997 74700997 single base substitution G A downstream_gene_variant ESAD-UK 8 74700997 74700997 single base substitution G A intron_variant ESAD-UK 8 74704693 74704693 single base substitution A G 3_prime_UTR_variant ESAD-UK 8 74704693 74704693 single base substitution A G downstream_gene_variant ESAD-UK 8 74704693 74704693 single base substitution A G intron_variant ESAD-UK 8 74706017 74706017 single base substitution C A 3_prime_UTR_variant ESAD-UK 8 74706017 74706017 single base substitution C A downstream_gene_variant ESAD-UK 8 74706017 74706017 single base substitution C A intron_variant ESAD-UK 8 74707826 74707826 single base substitution T C intron_variant ESAD-UK 8 74707958 74707958 single base substitution G A intron_variant ESAD-UK 8 74709031 74709031 deletion of <=200bp A - intron_variant ESAD-UK 8 74711134 74711134 single base substitution C G intron_variant ESAD-UK 8 74717932 74717932 single base substitution C A 3_prime_UTR_variant ESAD-UK 8 74717932 74717932 single base substitution C A synonymous_variant V127V 381G>T ESAD-UK 8 74717932 74717932 single base substitution C A synonymous_variant V132V 396G>T ESAD-UK 8 74717932 74717932 single base substitution C A synonymous_variant V143V 429G>T ESAD-UK 8 74717932 74717932 single base substitution C A synonymous_variant V161V 483G>T ESAD-UK 8 74717932 74717932 single base substitution C A synonymous_variant V172V 516G>T ESAD-UK 8 74718982 74718982 single base substitution T C intron_variant ESAD-UK 8 74721293 74721293 single base substitution C T intron_variant ESAD-UK 8 74721557 74721557 single base substitution A G intron_variant ESAD-UK 8 74723748 74723751 deletion of <=200bp TATT - intron_variant ESAD-UK 8 74724233 74724233 single base substitution G T intron_variant ESAD-UK 8 74724436 74724436 single base substitution C A intron_variant ESAD-UK 8 74729256 74729256 single base substitution G C intron_variant ESAD-UK 8 74732155 74732155 single base substitution T A intron_variant ESAD-UK 8 74735019 74735019 insertion of <=200bp - A intron_variant ESAD-UK 8 74739848 74739848 single base substitution T C intron_variant ESAD-UK 8 74740599 74740599 single base substitution A T intron_variant ESAD-UK 8 74741414 74741414 single base substitution T C intron_variant ESAD-UK 8 74742017 74742017 single base substitution C T intron_variant ESAD-UK 8 74742079 74742079 insertion of <=200bp - T intron_variant ESAD-UK 8 74743124 74743124 single base substitution T C intron_variant ESAD-UK 8 74743124 74743124 single base substitution T C upstream_gene_variant ESAD-UK 8 74744356 74744356 single base substitution C A intron_variant ESAD-UK 8 74744356 74744356 single base substitution C A upstream_gene_variant ESAD-UK 8 74744444 74744444 single base substitution G T intron_variant ESAD-UK 8 74744444 74744444 single base substitution G T upstream_gene_variant ESAD-UK 8 74745593 74745593 single base substitution A C intron_variant ESAD-UK 8 74745593 74745593 single base substitution A C upstream_gene_variant ESAD-UK 8 74746312 74746312 single base substitution G A intron_variant ESAD-UK 8 74746312 74746312 single base substitution G A upstream_gene_variant ESAD-UK 8 74746321 74746321 single base substitution T C intron_variant ESAD-UK 8 74746321 74746321 single base substitution T C upstream_gene_variant ESAD-UK 8 74746769 74746769 single base substitution C G intron_variant ESAD-UK 8 74746769 74746769 single base substitution C G upstream_gene_variant ESAD-UK 8 74746812 74746812 single base substitution G A intron_variant ESAD-UK 8 74746812 74746812 single base substitution G A upstream_gene_variant ESAD-UK 8 74749230 74749230 single base substitution G T intron_variant ESAD-UK 8 74749481 74749481 single base substitution C G intron_variant ESAD-UK 8 74750677 74750677 single base substitution C T intron_variant ESAD-UK 8 74750952 74750952 single base substitution C T intron_variant ESAD-UK 8 74753011 74753011 insertion of <=200bp - A intron_variant ESAD-UK 8 74753126 74753126 single base substitution G A intron_variant ESAD-UK 8 74753689 74753689 single base substitution A T intron_variant ESAD-UK 8 74754482 74754482 single base substitution G A intron_variant ESAD-UK 8 74755450 74755450 insertion of <=200bp - T intron_variant ESAD-UK 8 74756151 74756151 single base substitution G C intron_variant ESAD-UK 8 74758016 74758016 single base substitution A G intron_variant ESAD-UK 8 74761594 74761594 single base substitution A T intron_variant ESAD-UK 8 74762087 74762087 single base substitution T G intron_variant ESAD-UK 8 74762543 74762543 single base substitution T A intron_variant ESAD-UK 8 74763032 74763032 single base substitution A C intron_variant ESAD-UK 8 74763886 74763886 single base substitution C G intron_variant ESAD-UK 8 74765710 74765710 single base substitution G A intron_variant ESAD-UK 8 74766748 74766748 deletion of <=200bp T - intron_variant ESAD-UK 8 74768541 74768541 single base substitution T C intron_variant ESAD-UK 8 74768925 74768925 single base substitution G T intron_variant ESAD-UK 8 74769606 74769606 single base substitution A G intron_variant ESAD-UK 8 74771567 74771567 single base substitution C A intron_variant ESAD-UK 8 74772508 74772508 single base substitution T C intron_variant ESAD-UK 8 74773362 74773362 insertion of <=200bp - C intron_variant ESAD-UK 8 74780992 74780992 single base substitution T C intron_variant ESAD-UK 8 74782457 74782457 single base substitution C A intron_variant ESAD-UK 8 74783958 74783958 single base substitution G A intron_variant ESAD-UK 8 74784473 74784473 single base substitution A G intron_variant ESAD-UK 8 74785308 74785308 insertion of <=200bp - T intron_variant ESAD-UK 8 74786000 74786000 single base substitution C G intron_variant ESAD-UK 8 74787037 74787037 single base substitution G A intron_variant ESAD-UK 8 74788487 74788487 single base substitution T C intron_variant ESAD-UK 8 74788551 74788551 single base substitution A C intron_variant ESAD-UK 8 74792774 74792774 single base substitution G C upstream_gene_variant ESAD-UK 8 74794859 74794859 single base substitution C T upstream_gene_variant ESAD-UK 8 74795011 74795011 single base substitution C T upstream_gene_variant ESAD-UK 8 74795489 74795489 single base substitution T G upstream_gene_variant ESAD-UK 8 74796125 74796125 single base substitution G T upstream_gene_variant KIRC-US 8 74742665 74742665 single base substitution G T exon_variant KIRC-US 8 74742665 74742665 single base substitution G T missense_variant P15T 43C>A KIRC-US 8 74742665 74742665 single base substitution G T missense_variant P20T 58C>A KIRC-US 8 74742665 74742665 single base substitution G T missense_variant P31T 91C>A KIRC-US 8 74742665 74742665 single base substitution G T missense_variant P49T 145C>A KIRC-US 8 74742665 74742665 single base substitution G T missense_variant P60T 178C>A LAML-KR 8 74691483 74691483 single base substitution A G downstream_gene_variant LAML-KR 8 74718599 74718599 single base substitution T C intron_variant LAML-KR 8 74760323 74760323 single base substitution A C intron_variant LAML-KR 8 74781225 74781225 single base substitution G T intron_variant LICA-CN 8 74791138 74791138 single base substitution T C missense_variant S3G 7A>G LICA-CN 8 74791138 74791138 single base substitution T C upstream_gene_variant LICA-FR 8 74697431 74697431 single base substitution G T downstream_gene_variant LICA-FR 8 74697431 74697431 single base substitution G T intron_variant LICA-FR 8 74704068 74704068 single base substitution T A 3_prime_UTR_variant LICA-FR 8 74704068 74704068 single base substitution T A downstream_gene_variant LICA-FR 8 74704068 74704068 single base substitution T A intron_variant LICA-FR 8 74711399 74711399 single base substitution T C intron_variant LICA-FR 8 74713595 74713595 single base substitution T C intron_variant LICA-FR 8 74734901 74734901 single base substitution C A intron_variant LICA-FR 8 74751583 74751583 insertion of <=200bp - A intron_variant LICA-FR 8 74751664 74751664 single base substitution A G intron_variant LICA-FR 8 74751677 74751677 single base substitution A T intron_variant LICA-FR 8 74756015 74756017 deletion of <=200bp AAA - intron_variant LICA-FR 8 74761281 74761281 insertion of <=200bp - AA intron_variant LICA-FR 8 74763760 74763760 single base substitution A C intron_variant LICA-FR 8 74793788 74793788 single base substitution T A upstream_gene_variant LICA-FR 8 74795535 74795535 single base substitution C A upstream_gene_variant LICA-FR 8 74795974 74795975 deletion of <=200bp AA - upstream_gene_variant LINC-JP 8 74688174 74688174 single base substitution G A downstream_gene_variant LINC-JP 8 74714570 74714570 single base substitution A T intron_variant LINC-JP 8 74715437 74715437 single base substitution C A intron_variant LINC-JP 8 74717032 74717032 single base substitution C A intron_variant LINC-JP 8 74717082 74717082 single base substitution C T intron_variant LINC-JP 8 74722910 74722910 single base substitution C T intron_variant LINC-JP 8 74725348 74725348 single base substitution C A intron_variant LINC-JP 8 74738541 74738541 single base substitution T C intron_variant LINC-JP 8 74742607 74742607 insertion of <=200bp - AATACTT intron_variant LINC-JP 8 74747398 74747398 single base substitution T G intron_variant LINC-JP 8 74747398 74747398 single base substitution T G upstream_gene_variant LINC-JP 8 74755117 74755117 single base substitution T C intron_variant LINC-JP 8 74769338 74769338 single base substitution T C intron_variant LINC-JP 8 74778737 74778737 single base substitution T C intron_variant LINC-JP 8 74786161 74786161 single base substitution T C intron_variant LINC-JP 8 74791294 74791294 single base substitution G A upstream_gene_variant LIRI-JP 8 74688931 74688931 single base substitution C A downstream_gene_variant LIRI-JP 8 74689698 74689698 single base substitution T C downstream_gene_variant LIRI-JP 8 74695146 74695146 single base substitution C G downstream_gene_variant LIRI-JP 8 74695146 74695146 single base substitution C G intron_variant LIRI-JP 8 74696081 74696081 single base substitution T A downstream_gene_variant LIRI-JP 8 74696081 74696081 single base substitution T A intron_variant LIRI-JP 8 74697076 74697076 single base substitution C T downstream_gene_variant LIRI-JP 8 74697076 74697076 single base substitution C T intron_variant LIRI-JP 8 74697849 74697849 single base substitution G A downstream_gene_variant LIRI-JP 8 74697849 74697849 single base substitution G A intron_variant LIRI-JP 8 74698860 74698860 single base substitution A C 3_prime_UTR_variant LIRI-JP 8 74698860 74698860 single base substitution A C downstream_gene_variant LIRI-JP 8 74698860 74698860 single base substitution A C intron_variant LIRI-JP 8 74701189 74701189 single base substitution A T 3_prime_UTR_variant LIRI-JP 8 74701189 74701189 single base substitution A T downstream_gene_variant LIRI-JP 8 74701189 74701189 single base substitution A T intron_variant LIRI-JP 8 74701811 74701811 single base substitution T C 3_prime_UTR_variant LIRI-JP 8 74701811 74701811 single base substitution T C downstream_gene_variant LIRI-JP 8 74701811 74701811 single base substitution T C intron_variant LIRI-JP 8 74703096 74703096 single base substitution A G 3_prime_UTR_variant LIRI-JP 8 74703096 74703096 single base substitution A G downstream_gene_variant LIRI-JP 8 74703096 74703096 single base substitution A G intron_variant LIRI-JP 8 74704888 74704888 single base substitution G C 3_prime_UTR_variant LIRI-JP 8 74704888 74704888 single base substitution G C downstream_gene_variant LIRI-JP 8 74704888 74704888 single base substitution G C intron_variant LIRI-JP 8 74704923 74704923 single base substitution T C 3_prime_UTR_variant LIRI-JP 8 74704923 74704923 single base substitution T C downstream_gene_variant LIRI-JP 8 74704923 74704923 single base substitution T C intron_variant LIRI-JP 8 74705355 74705355 single base substitution A C 3_prime_UTR_variant LIRI-JP 8 74705355 74705355 single base substitution A C downstream_gene_variant LIRI-JP 8 74705355 74705355 single base substitution A C intron_variant LIRI-JP 8 74706393 74706393 single base substitution G T intron_variant LIRI-JP 8 74706464 74706464 single base substitution G A intron_variant LIRI-JP 8 74707927 74707927 single base substitution T G intron_variant LIRI-JP 8 74712344 74712344 single base substitution T C intron_variant LIRI-JP 8 74712498 74712498 single base substitution T C intron_variant LIRI-JP 8 74714008 74714008 single base substitution C T intron_variant LIRI-JP 8 74715338 74715338 single base substitution T C intron_variant LIRI-JP 8 74716422 74716422 single base substitution T C intron_variant LIRI-JP 8 74716428 74716428 single base substitution A T intron_variant LIRI-JP 8 74717762 74717762 single base substitution T C intron_variant LIRI-JP 8 74718126 74718126 single base substitution A G intron_variant LIRI-JP 8 74718194 74718194 single base substitution C T intron_variant LIRI-JP 8 74719745 74719745 single base substitution A G intron_variant LIRI-JP 8 74722893 74722893 single base substitution T A intron_variant LIRI-JP 8 74725641 74725641 single base substitution A C intron_variant LIRI-JP 8 74727688 74727688 single base substitution T A intron_variant LIRI-JP 8 74727841 74727841 insertion of <=200bp - T intron_variant LIRI-JP 8 74728385 74728385 single base substitution T C intron_variant LIRI-JP 8 74728654 74728654 single base substitution C A intron_variant LIRI-JP 8 74728902 74728902 single base substitution C G intron_variant LIRI-JP 8 74730679 74730679 single base substitution T C intron_variant LIRI-JP 8 74730758 74730758 single base substitution T A intron_variant LIRI-JP 8 74731223 74731223 single base substitution T C intron_variant LIRI-JP 8 74736378 74736378 single base substitution A G intron_variant LIRI-JP 8 74741741 74741741 single base substitution T C intron_variant LIRI-JP 8 74742208 74742208 single base substitution G A intron_variant LIRI-JP 8 74744400 74744400 single base substitution G A intron_variant LIRI-JP 8 74744400 74744400 single base substitution G A upstream_gene_variant LIRI-JP 8 74745512 74745512 single base substitution T C intron_variant LIRI-JP 8 74745512 74745512 single base substitution T C upstream_gene_variant LIRI-JP 8 74745965 74745965 single base substitution T C intron_variant LIRI-JP 8 74745965 74745965 single base substitution T C upstream_gene_variant LIRI-JP 8 74746202 74746202 single base substitution T C intron_variant LIRI-JP 8 74746202 74746202 single base substitution T C upstream_gene_variant LIRI-JP 8 74750432 74750432 single base substitution T C intron_variant LIRI-JP 8 74750884 74750884 single base substitution C G intron_variant LIRI-JP 8 74752962 74752962 single base substitution G A intron_variant LIRI-JP 8 74753727 74753727 single base substitution T C intron_variant LIRI-JP 8 74754173 74754173 single base substitution A G intron_variant LIRI-JP 8 74755243 74755243 single base substitution A G intron_variant LIRI-JP 8 74755745 74755745 single base substitution C T intron_variant LIRI-JP 8 74755937 74755937 single base substitution T A intron_variant LIRI-JP 8 74764558 74764558 single base substitution C T intron_variant LIRI-JP 8 74764571 74764571 single base substitution A G intron_variant LIRI-JP 8 74766482 74766482 single base substitution G A intron_variant LIRI-JP 8 74766483 74766483 single base substitution C A intron_variant LIRI-JP 8 74769394 74769394 single base substitution T C intron_variant LIRI-JP 8 74769700 74769701 deletion of <=200bp AG - intron_variant LIRI-JP 8 74774462 74774462 single base substitution G A intron_variant LIRI-JP 8 74778691 74778691 single base substitution T A intron_variant LIRI-JP 8 74778868 74778868 single base substitution C T intron_variant LIRI-JP 8 74780083 74780083 single base substitution T C intron_variant LIRI-JP 8 74780800 74780800 single base substitution C T intron_variant LIRI-JP 8 74783614 74783614 single base substitution T C intron_variant LIRI-JP 8 74784484 74784484 single base substitution A G intron_variant LIRI-JP 8 74787473 74787473 single base substitution C T intron_variant LIRI-JP 8 74787518 74787518 single base substitution C T intron_variant LIRI-JP 8 74787661 74787661 single base substitution T A intron_variant LIRI-JP 8 74787792 74787792 single base substitution T C intron_variant LIRI-JP 8 74788586 74788586 single base substitution T C intron_variant LIRI-JP 8 74790647 74790647 single base substitution C T intron_variant LIRI-JP 8 74792487 74792487 single base substitution G A upstream_gene_variant LIRI-JP 8 74792542 74792542 single base substitution A G upstream_gene_variant LIRI-JP 8 74795722 74795722 single base substitution T A upstream_gene_variant LUSC-KR 8 74688018 74688018 single base substitution C G downstream_gene_variant LUSC-KR 8 74692051 74692051 single base substitution G C downstream_gene_variant LUSC-KR 8 74695037 74695037 single base substitution G A downstream_gene_variant LUSC-KR 8 74695037 74695037 single base substitution G A intron_variant LUSC-KR 8 74696744 74696744 single base substitution C G downstream_gene_variant LUSC-KR 8 74696744 74696744 single base substitution C G intron_variant LUSC-KR 8 74702576 74702576 single base substitution G T 3_prime_UTR_variant LUSC-KR 8 74702576 74702576 single base substitution G T downstream_gene_variant LUSC-KR 8 74702576 74702576 single base substitution G T intron_variant LUSC-KR 8 74707208 74707208 single base substitution T G intron_variant LUSC-KR 8 74716893 74716893 single base substitution G A intron_variant LUSC-KR 8 74723791 74723791 single base substitution G A intron_variant LUSC-KR 8 74727250 74727250 single base substitution T A intron_variant LUSC-KR 8 74735486 74735486 single base substitution T A intron_variant LUSC-KR 8 74738012 74738012 single base substitution G C intron_variant LUSC-KR 8 74738891 74738891 single base substitution C A intron_variant LUSC-KR 8 74739683 74739683 single base substitution G C intron_variant LUSC-KR 8 74739966 74739966 single base substitution G A intron_variant LUSC-KR 8 74740465 74740465 single base substitution T C intron_variant LUSC-KR 8 74743516 74743516 single base substitution G A intron_variant LUSC-KR 8 74743516 74743516 single base substitution G A upstream_gene_variant LUSC-KR 8 74750540 74750540 single base substitution G A intron_variant LUSC-KR 8 74751736 74751736 single base substitution C T intron_variant LUSC-KR 8 74751825 74751825 single base substitution G C intron_variant LUSC-KR 8 74751843 74751843 single base substitution G C intron_variant LUSC-KR 8 74752201 74752201 single base substitution C A intron_variant LUSC-KR 8 74759921 74759921 single base substitution G A intron_variant LUSC-KR 8 74762243 74762243 single base substitution C T intron_variant LUSC-KR 8 74764226 74764226 single base substitution T G intron_variant LUSC-KR 8 74766525 74766525 single base substitution T C intron_variant LUSC-KR 8 74766950 74766950 single base substitution G C intron_variant LUSC-KR 8 74768436 74768436 single base substitution C G intron_variant LUSC-KR 8 74768617 74768617 single base substitution G T intron_variant LUSC-KR 8 74774263 74774263 single base substitution T C intron_variant LUSC-KR 8 74775545 74775545 single base substitution C T intron_variant LUSC-KR 8 74776455 74776455 single base substitution C A intron_variant LUSC-KR 8 74779051 74779051 single base substitution G C intron_variant LUSC-KR 8 74779150 74779150 single base substitution G A intron_variant LUSC-KR 8 74779226 74779226 single base substitution G A intron_variant LUSC-KR 8 74783885 74783885 single base substitution T G intron_variant LUSC-KR 8 74790527 74790527 single base substitution C A intron_variant LUSC-KR 8 74791594 74791594 single base substitution G T upstream_gene_variant LUSC-KR 8 74796140 74796140 single base substitution G A upstream_gene_variant MALY-DE 8 74715619 74715619 single base substitution T G intron_variant MALY-DE 8 74717723 74717723 single base substitution A T intron_variant MALY-DE 8 74717778 74717778 single base substitution A C intron_variant MALY-DE 8 74738800 74738800 single base substitution C T intron_variant MALY-DE 8 74741176 74741176 single base substitution T C intron_variant MALY-DE 8 74753899 74753899 single base substitution T G intron_variant MALY-DE 8 74754133 74754133 single base substitution C A intron_variant MALY-DE 8 74759633 74759633 single base substitution G A intron_variant MALY-DE 8 74760138 74760138 insertion of <=200bp - A intron_variant MALY-DE 8 74762716 74762716 single base substitution G A intron_variant MALY-DE 8 74766228 74766228 single base substitution T C intron_variant MALY-DE 8 74766515 74766515 single base substitution A T intron_variant MALY-DE 8 74770910 74770910 single base substitution A G intron_variant MALY-DE 8 74782496 74782496 single base substitution A T intron_variant MALY-DE 8 74782496 74782496 single base substitution A T splice_region_variant MALY-DE 8 74789817 74789817 insertion of <=200bp - A intron_variant MELA-AU 8 74687584 74687584 single base substitution T A downstream_gene_variant MELA-AU 8 74688064 74688065 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 8 74688851 74688851 single base substitution C T downstream_gene_variant MELA-AU 8 74689031 74689031 single base substitution G A downstream_gene_variant MELA-AU 8 74689161 74689161 single base substitution C T downstream_gene_variant MELA-AU 8 74689722 74689722 single base substitution C T downstream_gene_variant MELA-AU 8 74689914 74689914 single base substitution C T downstream_gene_variant MELA-AU 8 74690137 74690137 single base substitution C T downstream_gene_variant MELA-AU 8 74690476 74690476 single base substitution G A downstream_gene_variant MELA-AU 8 74690508 74690508 single base substitution G A downstream_gene_variant MELA-AU 8 74690832 74690832 single base substitution G A downstream_gene_variant MELA-AU 8 74690834 74690834 single base substitution G A downstream_gene_variant MELA-AU 8 74691322 74691322 single base substitution G A downstream_gene_variant MELA-AU 8 74691348 74691348 single base substitution T A downstream_gene_variant MELA-AU 8 74691442 74691442 single base substitution C T downstream_gene_variant MELA-AU 8 74691611 74691611 single base substitution G A downstream_gene_variant MELA-AU 8 74691748 74691748 single base substitution G A downstream_gene_variant MELA-AU 8 74692178 74692178 single base substitution G A downstream_gene_variant MELA-AU 8 74692199 74692199 single base substitution T C downstream_gene_variant MELA-AU 8 74692604 74692604 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74692689 74692689 single base substitution C T 3_prime_UTR_variant MELA-AU 8 74692755 74692755 single base substitution G A intron_variant MELA-AU 8 74692807 74692807 single base substitution C A intron_variant MELA-AU 8 74692829 74692829 single base substitution A C intron_variant MELA-AU 8 74692879 74692879 single base substitution C T intron_variant MELA-AU 8 74693041 74693041 single base substitution G A intron_variant MELA-AU 8 74693220 74693220 single base substitution C T intron_variant MELA-AU 8 74693431 74693431 single base substitution G A intron_variant MELA-AU 8 74693841 74693841 single base substitution G A downstream_gene_variant MELA-AU 8 74693841 74693841 single base substitution G A intron_variant MELA-AU 8 74694885 74694885 single base substitution C T downstream_gene_variant MELA-AU 8 74694885 74694885 single base substitution C T intron_variant MELA-AU 8 74695453 74695453 single base substitution G A downstream_gene_variant MELA-AU 8 74695453 74695453 single base substitution G A intron_variant MELA-AU 8 74695772 74695772 single base substitution G A downstream_gene_variant MELA-AU 8 74695772 74695772 single base substitution G A intron_variant MELA-AU 8 74696016 74696016 single base substitution G A downstream_gene_variant MELA-AU 8 74696016 74696016 single base substitution G A intron_variant MELA-AU 8 74696191 74696191 single base substitution G A downstream_gene_variant MELA-AU 8 74696191 74696191 single base substitution G A intron_variant MELA-AU 8 74696465 74696465 single base substitution G A downstream_gene_variant MELA-AU 8 74696465 74696465 single base substitution G A intron_variant MELA-AU 8 74696829 74696829 single base substitution G A downstream_gene_variant MELA-AU 8 74696829 74696829 single base substitution G A intron_variant MELA-AU 8 74697344 74697344 single base substitution G A downstream_gene_variant MELA-AU 8 74697344 74697344 single base substitution G A intron_variant MELA-AU 8 74697753 74697753 single base substitution G A downstream_gene_variant MELA-AU 8 74697753 74697753 single base substitution G A intron_variant MELA-AU 8 74697760 74697760 single base substitution G A downstream_gene_variant MELA-AU 8 74697760 74697760 single base substitution G A intron_variant MELA-AU 8 74698225 74698225 single base substitution T C downstream_gene_variant MELA-AU 8 74698225 74698225 single base substitution T C intron_variant MELA-AU 8 74699247 74699247 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74699247 74699247 single base substitution G A downstream_gene_variant MELA-AU 8 74699247 74699247 single base substitution G A intron_variant MELA-AU 8 74699330 74699330 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74699330 74699330 single base substitution G A downstream_gene_variant MELA-AU 8 74699330 74699330 single base substitution G A intron_variant MELA-AU 8 74699337 74699337 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74699337 74699337 single base substitution G A downstream_gene_variant MELA-AU 8 74699337 74699337 single base substitution G A intron_variant MELA-AU 8 74699665 74699665 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74699665 74699665 single base substitution G A downstream_gene_variant MELA-AU 8 74699665 74699665 single base substitution G A intron_variant MELA-AU 8 74700123 74700123 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74700123 74700123 single base substitution G A downstream_gene_variant MELA-AU 8 74700123 74700123 single base substitution G A intron_variant MELA-AU 8 74700325 74700325 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74700325 74700325 single base substitution G A downstream_gene_variant MELA-AU 8 74700325 74700325 single base substitution G A intron_variant MELA-AU 8 74700530 74700530 single base substitution C G 3_prime_UTR_variant MELA-AU 8 74700530 74700530 single base substitution C G downstream_gene_variant MELA-AU 8 74700530 74700530 single base substitution C G intron_variant MELA-AU 8 74702456 74702456 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74702456 74702456 single base substitution G A downstream_gene_variant MELA-AU 8 74702456 74702456 single base substitution G A intron_variant MELA-AU 8 74702513 74702513 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74702513 74702513 single base substitution G A downstream_gene_variant MELA-AU 8 74702513 74702513 single base substitution G A intron_variant MELA-AU 8 74703570 74703570 single base substitution C T 3_prime_UTR_variant MELA-AU 8 74703570 74703570 single base substitution C T downstream_gene_variant MELA-AU 8 74703570 74703570 single base substitution C T intron_variant MELA-AU 8 74703638 74703638 single base substitution A C 3_prime_UTR_variant MELA-AU 8 74703638 74703638 single base substitution A C downstream_gene_variant MELA-AU 8 74703638 74703638 single base substitution A C intron_variant MELA-AU 8 74703960 74703960 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74703960 74703960 single base substitution G A downstream_gene_variant MELA-AU 8 74703960 74703960 single base substitution G A intron_variant MELA-AU 8 74704561 74704561 single base substitution T A 3_prime_UTR_variant MELA-AU 8 74704561 74704561 single base substitution T A downstream_gene_variant MELA-AU 8 74704561 74704561 single base substitution T A intron_variant MELA-AU 8 74704670 74704670 single base substitution A G 3_prime_UTR_variant MELA-AU 8 74704670 74704670 single base substitution A G downstream_gene_variant MELA-AU 8 74704670 74704670 single base substitution A G intron_variant MELA-AU 8 74705274 74705274 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74705274 74705274 single base substitution G A downstream_gene_variant MELA-AU 8 74705274 74705274 single base substitution G A intron_variant MELA-AU 8 74706258 74706258 single base substitution A G 3_prime_UTR_variant MELA-AU 8 74706258 74706258 single base substitution A G downstream_gene_variant MELA-AU 8 74706258 74706258 single base substitution A G intron_variant MELA-AU 8 74706350 74706350 single base substitution T C intron_variant MELA-AU 8 74706350 74706350 single base substitution T C missense_variant D148G 443A>G MELA-AU 8 74706350 74706350 single base substitution T C missense_variant D159G 476A>G MELA-AU 8 74706350 74706350 single base substitution T C missense_variant D177G 530A>G MELA-AU 8 74706350 74706350 single base substitution T C missense_variant D188G 563A>G MELA-AU 8 74706350 74706350 single base substitution T C splice_region_variant MELA-AU 8 74706650 74706650 single base substitution T A intron_variant MELA-AU 8 74707075 74707075 single base substitution G A intron_variant MELA-AU 8 74707456 74707456 single base substitution G A intron_variant MELA-AU 8 74707500 74707500 single base substitution G A intron_variant MELA-AU 8 74707892 74707892 single base substitution G A intron_variant MELA-AU 8 74708095 74708095 single base substitution C T 3_prime_UTR_variant MELA-AU 8 74708095 74708095 single base substitution C T intron_variant MELA-AU 8 74708101 74708101 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74708101 74708101 single base substitution G A intron_variant MELA-AU 8 74708108 74708108 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74708108 74708108 single base substitution G A intron_variant MELA-AU 8 74708546 74708546 single base substitution G A intron_variant MELA-AU 8 74708913 74708913 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74708913 74708913 single base substitution G A intron_variant MELA-AU 8 74709145 74709145 single base substitution A C intron_variant MELA-AU 8 74709292 74709292 single base substitution G A intron_variant MELA-AU 8 74710098 74710098 single base substitution C T intron_variant MELA-AU 8 74710315 74710315 single base substitution G A intron_variant MELA-AU 8 74711258 74711258 single base substitution A G intron_variant MELA-AU 8 74711555 74711555 single base substitution G A intron_variant MELA-AU 8 74712402 74712402 single base substitution G A intron_variant MELA-AU 8 74712564 74712564 single base substitution G A intron_variant MELA-AU 8 74712656 74712656 single base substitution G A intron_variant MELA-AU 8 74714885 74714885 single base substitution G A intron_variant MELA-AU 8 74714987 74714987 single base substitution G A intron_variant MELA-AU 8 74715344 74715344 single base substitution G A intron_variant MELA-AU 8 74715496 74715496 single base substitution G A intron_variant MELA-AU 8 74715642 74715642 single base substitution A G intron_variant MELA-AU 8 74716129 74716129 single base substitution G A intron_variant MELA-AU 8 74717094 74717094 single base substitution G A intron_variant MELA-AU 8 74717321 74717321 single base substitution G A intron_variant MELA-AU 8 74718073 74718073 single base substitution T G intron_variant MELA-AU 8 74718169 74718169 single base substitution G C intron_variant MELA-AU 8 74718298 74718298 single base substitution G A intron_variant MELA-AU 8 74718842 74718842 single base substitution G A intron_variant MELA-AU 8 74719406 74719406 single base substitution G A intron_variant MELA-AU 8 74720308 74720308 single base substitution G A intron_variant MELA-AU 8 74721659 74721659 single base substitution G A intron_variant MELA-AU 8 74721775 74721775 single base substitution A G intron_variant MELA-AU 8 74722191 74722191 single base substitution G A intron_variant MELA-AU 8 74722653 74722653 single base substitution T G intron_variant MELA-AU 8 74723711 74723711 single base substitution G A intron_variant MELA-AU 8 74724382 74724382 single base substitution G A intron_variant MELA-AU 8 74724553 74724553 single base substitution G A intron_variant MELA-AU 8 74724579 74724579 single base substitution C T intron_variant MELA-AU 8 74724667 74724667 single base substitution G A intron_variant MELA-AU 8 74724964 74724964 single base substitution G A intron_variant MELA-AU 8 74725080 74725080 single base substitution A T intron_variant MELA-AU 8 74725134 74725134 single base substitution G T intron_variant MELA-AU 8 74725136 74725136 single base substitution A G intron_variant MELA-AU 8 74726098 74726098 single base substitution C T intron_variant MELA-AU 8 74727387 74727388 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 74728549 74728550 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 74728769 74728770 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 74729552 74729567 deletion of <=200bp AACTCCATCTCAAAAA - intron_variant MELA-AU 8 74729748 74729748 single base substitution C T intron_variant MELA-AU 8 74729772 74729772 single base substitution G A intron_variant MELA-AU 8 74729847 74729847 single base substitution G A intron_variant MELA-AU 8 74730741 74730741 single base substitution G A intron_variant MELA-AU 8 74731235 74731235 single base substitution A G intron_variant MELA-AU 8 74731547 74731547 single base substitution G A intron_variant MELA-AU 8 74732340 74732340 single base substitution G A intron_variant MELA-AU 8 74732734 74732734 single base substitution G A intron_variant MELA-AU 8 74732872 74732872 single base substitution G A intron_variant MELA-AU 8 74732883 74732883 single base substitution G A intron_variant MELA-AU 8 74732970 74732970 single base substitution C T intron_variant MELA-AU 8 74733802 74733802 single base substitution G A intron_variant MELA-AU 8 74733934 74733934 single base substitution G A intron_variant MELA-AU 8 74734001 74734001 single base substitution G A intron_variant MELA-AU 8 74734721 74734721 single base substitution G A intron_variant MELA-AU 8 74734938 74734938 single base substitution G A intron_variant MELA-AU 8 74735263 74735263 single base substitution G A intron_variant MELA-AU 8 74735431 74735431 single base substitution G A intron_variant MELA-AU 8 74735469 74735469 single base substitution A G intron_variant MELA-AU 8 74736179 74736179 single base substitution C T intron_variant MELA-AU 8 74736204 74736204 single base substitution A C intron_variant MELA-AU 8 74737384 74737384 single base substitution G A intron_variant MELA-AU 8 74737384 74737384 single base substitution G A stop_gained Q110* 328C>T MELA-AU 8 74737384 74737384 single base substitution G A stop_gained Q65* 193C>T MELA-AU 8 74737384 74737384 single base substitution G A stop_gained Q70* 208C>T MELA-AU 8 74737384 74737384 single base substitution G A stop_gained Q81* 241C>T MELA-AU 8 74737384 74737384 single base substitution G A stop_gained Q99* 295C>T MELA-AU 8 74737399 74737399 single base substitution G A intron_variant MELA-AU 8 74737399 74737399 single base substitution G A missense_variant P105S 313C>T MELA-AU 8 74737399 74737399 single base substitution G A missense_variant P60S 178C>T MELA-AU 8 74737399 74737399 single base substitution G A missense_variant P65S 193C>T MELA-AU 8 74737399 74737399 single base substitution G A missense_variant P76S 226C>T MELA-AU 8 74737399 74737399 single base substitution G A missense_variant P94S 280C>T MELA-AU 8 74737594 74737594 single base substitution G A intron_variant MELA-AU 8 74737933 74737933 single base substitution G A intron_variant MELA-AU 8 74738645 74738645 single base substitution G A intron_variant MELA-AU 8 74738881 74738881 single base substitution G A intron_variant MELA-AU 8 74739282 74739282 single base substitution G A intron_variant MELA-AU 8 74739722 74739722 single base substitution T G intron_variant MELA-AU 8 74739910 74739910 single base substitution G A intron_variant MELA-AU 8 74739927 74739927 single base substitution G A intron_variant MELA-AU 8 74740004 74740004 single base substitution G A intron_variant MELA-AU 8 74740107 74740107 single base substitution T A intron_variant MELA-AU 8 74740134 74740134 single base substitution G A intron_variant MELA-AU 8 74740503 74740503 single base substitution G A intron_variant MELA-AU 8 74740584 74740584 single base substitution T A intron_variant MELA-AU 8 74741103 74741103 single base substitution C A intron_variant MELA-AU 8 74741218 74741218 single base substitution C T intron_variant MELA-AU 8 74741248 74741248 single base substitution G A intron_variant MELA-AU 8 74741716 74741726 deletion of <=200bp TTTAATATTTT - intron_variant MELA-AU 8 74743655 74743655 single base substitution G A intron_variant MELA-AU 8 74743655 74743655 single base substitution G A upstream_gene_variant MELA-AU 8 74744126 74744126 single base substitution G A intron_variant MELA-AU 8 74744126 74744126 single base substitution G A upstream_gene_variant MELA-AU 8 74744219 74744219 single base substitution A C intron_variant MELA-AU 8 74744219 74744219 single base substitution A C upstream_gene_variant MELA-AU 8 74745223 74745223 single base substitution G A intron_variant MELA-AU 8 74745223 74745223 single base substitution G A upstream_gene_variant MELA-AU 8 74745324 74745324 single base substitution G A intron_variant MELA-AU 8 74745324 74745324 single base substitution G A upstream_gene_variant MELA-AU 8 74745409 74745409 single base substitution G A intron_variant MELA-AU 8 74745409 74745409 single base substitution G A upstream_gene_variant MELA-AU 8 74745564 74745564 single base substitution G A intron_variant MELA-AU 8 74745564 74745564 single base substitution G A upstream_gene_variant MELA-AU 8 74745791 74745791 single base substitution G A intron_variant MELA-AU 8 74745791 74745791 single base substitution G A upstream_gene_variant MELA-AU 8 74745931 74745931 single base substitution G A intron_variant MELA-AU 8 74745931 74745931 single base substitution G A upstream_gene_variant MELA-AU 8 74746965 74746965 single base substitution G A intron_variant MELA-AU 8 74746965 74746965 single base substitution G A upstream_gene_variant MELA-AU 8 74747003 74747003 single base substitution G A intron_variant MELA-AU 8 74747003 74747003 single base substitution G A upstream_gene_variant MELA-AU 8 74747254 74747255 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 74747254 74747255 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 74747327 74747327 single base substitution G A intron_variant MELA-AU 8 74747327 74747327 single base substitution G A upstream_gene_variant MELA-AU 8 74747346 74747346 single base substitution G A intron_variant MELA-AU 8 74747346 74747346 single base substitution G A upstream_gene_variant MELA-AU 8 74747421 74747421 single base substitution G A intron_variant MELA-AU 8 74747421 74747421 single base substitution G A upstream_gene_variant MELA-AU 8 74747521 74747521 single base substitution G A intron_variant MELA-AU 8 74747521 74747521 single base substitution G A upstream_gene_variant MELA-AU 8 74748000 74748000 single base substitution A T intron_variant MELA-AU 8 74748378 74748378 single base substitution G A intron_variant MELA-AU 8 74748745 74748745 single base substitution G A intron_variant MELA-AU 8 74748934 74748934 single base substitution G A intron_variant MELA-AU 8 74750349 74750349 single base substitution G A intron_variant MELA-AU 8 74751058 74751058 single base substitution T C intron_variant MELA-AU 8 74752016 74752016 single base substitution G T intron_variant MELA-AU 8 74753883 74753883 single base substitution G A intron_variant MELA-AU 8 74754146 74754146 single base substitution G A intron_variant MELA-AU 8 74755211 74755211 single base substitution G A intron_variant MELA-AU 8 74755343 74755343 single base substitution G A intron_variant MELA-AU 8 74756147 74756148 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 8 74756860 74756860 single base substitution G A intron_variant MELA-AU 8 74757589 74757589 single base substitution C T intron_variant MELA-AU 8 74757647 74757647 single base substitution A G intron_variant MELA-AU 8 74757962 74757962 single base substitution A T intron_variant MELA-AU 8 74757964 74757964 single base substitution A G intron_variant MELA-AU 8 74758637 74758637 single base substitution G A intron_variant MELA-AU 8 74759015 74759015 single base substitution G A intron_variant MELA-AU 8 74759071 74759071 single base substitution T C intron_variant MELA-AU 8 74759601 74759601 single base substitution G A intron_variant MELA-AU 8 74760066 74760066 single base substitution G A intron_variant MELA-AU 8 74760331 74760331 single base substitution G A intron_variant MELA-AU 8 74760371 74760371 single base substitution G A intron_variant MELA-AU 8 74760680 74760681 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 74760775 74760775 single base substitution C T intron_variant MELA-AU 8 74760931 74760931 single base substitution G A intron_variant MELA-AU 8 74761005 74761005 single base substitution G A intron_variant MELA-AU 8 74761291 74761291 single base substitution A C intron_variant MELA-AU 8 74761902 74761902 single base substitution G A intron_variant MELA-AU 8 74762023 74762023 single base substitution A G intron_variant MELA-AU 8 74762877 74762877 single base substitution G A intron_variant MELA-AU 8 74763316 74763316 single base substitution G A intron_variant MELA-AU 8 74763520 74763520 single base substitution T G intron_variant MELA-AU 8 74763960 74763960 single base substitution G A intron_variant MELA-AU 8 74765229 74765229 single base substitution G A intron_variant MELA-AU 8 74765297 74765297 single base substitution G A intron_variant MELA-AU 8 74765448 74765448 single base substitution G A intron_variant MELA-AU 8 74766022 74766022 single base substitution G A intron_variant MELA-AU 8 74766075 74766075 single base substitution C T intron_variant MELA-AU 8 74766142 74766142 single base substitution G T intron_variant MELA-AU 8 74766466 74766466 single base substitution C T intron_variant MELA-AU 8 74766955 74766955 single base substitution A G intron_variant MELA-AU 8 74767061 74767061 single base substitution T C intron_variant MELA-AU 8 74767430 74767430 single base substitution G A intron_variant MELA-AU 8 74768048 74768048 single base substitution T G intron_variant MELA-AU 8 74768734 74768734 single base substitution G A intron_variant MELA-AU 8 74769133 74769133 single base substitution G A intron_variant MELA-AU 8 74769256 74769256 single base substitution G A intron_variant MELA-AU 8 74769977 74769977 single base substitution G A intron_variant MELA-AU 8 74771100 74771100 single base substitution G A intron_variant MELA-AU 8 74771439 74771439 single base substitution G A intron_variant MELA-AU 8 74772947 74772947 single base substitution G A intron_variant MELA-AU 8 74773605 74773605 single base substitution G A intron_variant MELA-AU 8 74773832 74773832 single base substitution C A intron_variant MELA-AU 8 74773940 74773940 single base substitution G A intron_variant MELA-AU 8 74774192 74774192 single base substitution G A intron_variant MELA-AU 8 74775831 74775831 single base substitution A G intron_variant MELA-AU 8 74776725 74776725 single base substitution G C intron_variant MELA-AU 8 74776787 74776787 single base substitution A T intron_variant MELA-AU 8 74776852 74776852 single base substitution G A intron_variant MELA-AU 8 74777001 74777001 single base substitution G A intron_variant MELA-AU 8 74777400 74777400 single base substitution T C intron_variant MELA-AU 8 74777528 74777528 single base substitution G A intron_variant MELA-AU 8 74778097 74778097 single base substitution G A intron_variant MELA-AU 8 74778719 74778719 single base substitution G A intron_variant MELA-AU 8 74778757 74778757 single base substitution A T intron_variant MELA-AU 8 74779335 74779335 single base substitution G A intron_variant MELA-AU 8 74780791 74780791 single base substitution G A intron_variant MELA-AU 8 74781194 74781194 single base substitution G A intron_variant MELA-AU 8 74781993 74781993 single base substitution G A intron_variant MELA-AU 8 74782186 74782186 single base substitution G A intron_variant MELA-AU 8 74782393 74782393 single base substitution G A intron_variant MELA-AU 8 74783231 74783231 single base substitution T C intron_variant MELA-AU 8 74783389 74783389 single base substitution G A intron_variant MELA-AU 8 74783975 74783975 single base substitution C T intron_variant MELA-AU 8 74784313 74784313 single base substitution G A intron_variant MELA-AU 8 74784456 74784456 single base substitution C T intron_variant MELA-AU 8 74785821 74785821 single base substitution G A intron_variant MELA-AU 8 74786357 74786357 single base substitution G A intron_variant MELA-AU 8 74787051 74787051 single base substitution G A intron_variant MELA-AU 8 74787281 74787281 single base substitution G A intron_variant MELA-AU 8 74788171 74788171 single base substitution C T intron_variant MELA-AU 8 74789301 74789301 single base substitution T A intron_variant MELA-AU 8 74789696 74789696 single base substitution A G intron_variant MELA-AU 8 74790168 74790168 deletion of <=200bp G - intron_variant MELA-AU 8 74791177 74791178 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 74791179 74791179 single base substitution G A upstream_gene_variant MELA-AU 8 74791183 74791183 single base substitution G A upstream_gene_variant MELA-AU 8 74791210 74791210 single base substitution G A upstream_gene_variant MELA-AU 8 74791219 74791219 single base substitution G A upstream_gene_variant MELA-AU 8 74791430 74791430 single base substitution C T upstream_gene_variant MELA-AU 8 74791705 74791706 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 74792866 74792866 single base substitution G A upstream_gene_variant MELA-AU 8 74793176 74793176 single base substitution G T upstream_gene_variant MELA-AU 8 74793195 74793195 single base substitution C T upstream_gene_variant MELA-AU 8 74793331 74793331 single base substitution G A upstream_gene_variant MELA-AU 8 74793653 74793653 single base substitution C T upstream_gene_variant MELA-AU 8 74793664 74793664 single base substitution C T upstream_gene_variant MELA-AU 8 74793998 74793998 single base substitution G A upstream_gene_variant MELA-AU 8 74794000 74794000 single base substitution A G upstream_gene_variant MELA-AU 8 74794019 74794019 single base substitution C T upstream_gene_variant MELA-AU 8 74794528 74794528 single base substitution G A upstream_gene_variant MELA-AU 8 74794664 74794664 single base substitution C T upstream_gene_variant MELA-AU 8 74795143 74795143 single base substitution G A upstream_gene_variant MELA-AU 8 74795265 74795265 single base substitution C T upstream_gene_variant MELA-AU 8 74795396 74795396 single base substitution G A upstream_gene_variant MELA-AU 8 74795564 74795564 single base substitution C T upstream_gene_variant MELA-AU 8 74795629 74795629 single base substitution C T upstream_gene_variant MELA-AU 8 74795676 74795676 single base substitution C T upstream_gene_variant MELA-AU 8 74795734 74795734 single base substitution C T upstream_gene_variant MELA-AU 8 74795764 74795764 single base substitution C T upstream_gene_variant MELA-AU 8 74795913 74795913 single base substitution G A upstream_gene_variant MELA-AU 8 74795978 74795978 single base substitution A G upstream_gene_variant MELA-AU 8 74796080 74796080 single base substitution G A upstream_gene_variant MELA-AU 8 74796099 74796099 single base substitution G A upstream_gene_variant ORCA-IN 8 74706185 74706185 single base substitution G C 3_prime_UTR_variant ORCA-IN 8 74706185 74706185 single base substitution G C downstream_gene_variant ORCA-IN 8 74706185 74706185 single base substitution G C intron_variant ORCA-IN 8 74730279 74730279 single base substitution C T intron_variant ORCA-IN 8 74734200 74734200 single base substitution C T intron_variant ORCA-IN 8 74752403 74752403 single base substitution T A intron_variant ORCA-IN 8 74754062 74754062 single base substitution C T intron_variant ORCA-IN 8 74761076 74761076 single base substitution G A intron_variant ORCA-IN 8 74776937 74776937 single base substitution G A intron_variant ORCA-IN 8 74789103 74789103 single base substitution G C intron_variant ORCA-IN 8 74789388 74789388 single base substitution G C intron_variant OV-AU 8 74703467 74703467 single base substitution T C 3_prime_UTR_variant OV-AU 8 74703467 74703467 single base substitution T C downstream_gene_variant OV-AU 8 74703467 74703467 single base substitution T C intron_variant OV-AU 8 74709693 74709693 single base substitution A C intron_variant OV-AU 8 74713055 74713055 single base substitution G A intron_variant OV-AU 8 74714850 74714850 single base substitution C A intron_variant OV-AU 8 74715723 74715723 single base substitution A G intron_variant OV-AU 8 74720473 74720473 single base substitution T C intron_variant OV-AU 8 74721350 74721350 single base substitution G T intron_variant OV-AU 8 74722005 74722005 single base substitution G A intron_variant OV-AU 8 74730161 74730161 single base substitution C T intron_variant OV-AU 8 74730332 74730332 single base substitution C T intron_variant OV-AU 8 74730372 74730372 single base substitution C A intron_variant OV-AU 8 74731388 74731388 single base substitution G A intron_variant OV-AU 8 74734437 74734437 single base substitution T A intron_variant OV-AU 8 74737900 74737900 single base substitution G A intron_variant OV-AU 8 74740383 74740383 single base substitution G T intron_variant OV-AU 8 74743487 74743487 single base substitution A C intron_variant OV-AU 8 74743487 74743487 single base substitution A C upstream_gene_variant OV-AU 8 74744360 74744360 single base substitution A C intron_variant OV-AU 8 74744360 74744360 single base substitution A C upstream_gene_variant OV-AU 8 74745854 74745854 single base substitution A T intron_variant OV-AU 8 74745854 74745854 single base substitution A T upstream_gene_variant OV-AU 8 74752577 74752577 single base substitution C T intron_variant OV-AU 8 74760983 74760983 single base substitution A C intron_variant OV-AU 8 74765689 74765689 single base substitution C G intron_variant OV-AU 8 74770135 74770135 single base substitution G C intron_variant OV-AU 8 74777817 74777817 single base substitution C A intron_variant OV-AU 8 74778003 74778003 single base substitution T G intron_variant OV-AU 8 74778122 74778122 single base substitution C T intron_variant OV-AU 8 74784851 74784851 single base substitution C G intron_variant OV-AU 8 74787675 74787675 single base substitution T C intron_variant OV-AU 8 74787778 74787778 single base substitution T A intron_variant OV-AU 8 74791077 74791077 single base substitution G A 5_prime_UTR_variant OV-AU 8 74791077 74791077 single base substitution G A missense_variant S23F 68C>T OV-AU 8 74791077 74791077 single base substitution G A upstream_gene_variant OV-AU 8 74794498 74794498 single base substitution C G upstream_gene_variant PACA-AU 8 74690909 74690909 single base substitution C G downstream_gene_variant PACA-AU 8 74691398 74691398 single base substitution C T downstream_gene_variant PACA-AU 8 74692765 74692765 single base substitution T A intron_variant PACA-AU 8 74696098 74696098 single base substitution G A downstream_gene_variant PACA-AU 8 74696098 74696098 single base substitution G A intron_variant PACA-AU 8 74701341 74701341 single base substitution G T 3_prime_UTR_variant PACA-AU 8 74701341 74701341 single base substitution G T downstream_gene_variant PACA-AU 8 74701341 74701341 single base substitution G T intron_variant PACA-AU 8 74705866 74705866 single base substitution C T 3_prime_UTR_variant PACA-AU 8 74705866 74705866 single base substitution C T downstream_gene_variant PACA-AU 8 74705866 74705866 single base substitution C T intron_variant PACA-AU 8 74706993 74706993 single base substitution C G intron_variant PACA-AU 8 74707191 74707191 single base substitution A G intron_variant PACA-AU 8 74710498 74710499 deletion of <=200bp CT - intron_variant PACA-AU 8 74715216 74715216 single base substitution G A intron_variant PACA-AU 8 74717715 74717715 single base substitution A C intron_variant PACA-AU 8 74718864 74718864 single base substitution G A intron_variant PACA-AU 8 74722443 74722443 single base substitution G T intron_variant PACA-AU 8 74722467 74722467 single base substitution C A intron_variant PACA-AU 8 74723020 74723020 single base substitution C G intron_variant PACA-AU 8 74729404 74729404 single base substitution A G intron_variant PACA-AU 8 74731014 74731014 single base substitution G A intron_variant PACA-AU 8 74731381 74731381 single base substitution C T intron_variant PACA-AU 8 74732585 74732585 single base substitution C T intron_variant PACA-AU 8 74737908 74737908 single base substitution C A intron_variant PACA-AU 8 74740023 74740023 single base substitution C T intron_variant PACA-AU 8 74743964 74743964 single base substitution T A intron_variant PACA-AU 8 74743964 74743964 single base substitution T A upstream_gene_variant PACA-AU 8 74745288 74745288 single base substitution C T intron_variant PACA-AU 8 74745288 74745288 single base substitution C T upstream_gene_variant PACA-AU 8 74753954 74753954 single base substitution C A intron_variant PACA-AU 8 74754201 74754201 single base substitution G A intron_variant PACA-AU 8 74755356 74755356 single base substitution C G intron_variant PACA-AU 8 74757566 74757566 single base substitution G A intron_variant PACA-AU 8 74758779 74758779 single base substitution G T intron_variant PACA-AU 8 74759018 74759018 single base substitution C T intron_variant PACA-AU 8 74761000 74761000 single base substitution A G intron_variant PACA-AU 8 74764825 74764825 single base substitution A T intron_variant PACA-AU 8 74771408 74771408 single base substitution C A intron_variant PACA-AU 8 74777308 74777308 single base substitution C T intron_variant PACA-AU 8 74778523 74778523 single base substitution A T intron_variant PACA-AU 8 74781307 74781307 single base substitution C T intron_variant PACA-AU 8 74783100 74783100 single base substitution C G intron_variant PACA-AU 8 74785134 74785134 single base substitution T C intron_variant PACA-AU 8 74786756 74786756 single base substitution C T intron_variant PACA-AU 8 74793788 74793788 single base substitution T A upstream_gene_variant PACA-AU 8 74794068 74794068 single base substitution A G upstream_gene_variant PACA-AU 8 74795859 74795859 single base substitution C A upstream_gene_variant PACA-AU 8 74795860 74795860 single base substitution T A upstream_gene_variant PACA-CA 8 74691336 74691336 single base substitution G A downstream_gene_variant PACA-CA 8 74691369 74691369 deletion of <=200bp A - downstream_gene_variant PACA-CA 8 74692676 74692683 deletion of <=200bp GGAGTTAA - 3_prime_UTR_variant PACA-CA 8 74692719 74692719 single base substitution T A missense_variant D154V 461A>T PACA-CA 8 74692719 74692719 single base substitution T A missense_variant D159V 476A>T PACA-CA 8 74692764 74692764 single base substitution A T intron_variant PACA-CA 8 74693242 74693242 single base substitution C T intron_variant PACA-CA 8 74694907 74694907 single base substitution A G downstream_gene_variant PACA-CA 8 74694907 74694907 single base substitution A G intron_variant PACA-CA 8 74696598 74696598 deletion of <=200bp T - downstream_gene_variant PACA-CA 8 74696598 74696598 deletion of <=200bp T - intron_variant PACA-CA 8 74696602 74696604 deletion of <=200bp AAT - downstream_gene_variant PACA-CA 8 74696602 74696604 deletion of <=200bp AAT - intron_variant PACA-CA 8 74697113 74697113 single base substitution C A downstream_gene_variant PACA-CA 8 74697113 74697113 single base substitution C A intron_variant PACA-CA 8 74699338 74699338 single base substitution G A 3_prime_UTR_variant PACA-CA 8 74699338 74699338 single base substitution G A downstream_gene_variant PACA-CA 8 74699338 74699338 single base substitution G A intron_variant PACA-CA 8 74699553 74699553 single base substitution G C 3_prime_UTR_variant PACA-CA 8 74699553 74699553 single base substitution G C downstream_gene_variant PACA-CA 8 74699553 74699553 single base substitution G C intron_variant PACA-CA 8 74699582 74699582 single base substitution G C 3_prime_UTR_variant PACA-CA 8 74699582 74699582 single base substitution G C downstream_gene_variant PACA-CA 8 74699582 74699582 single base substitution G C intron_variant PACA-CA 8 74699666 74699666 single base substitution G T 3_prime_UTR_variant PACA-CA 8 74699666 74699666 single base substitution G T downstream_gene_variant PACA-CA 8 74699666 74699666 single base substitution G T intron_variant PACA-CA 8 74699738 74699738 single base substitution G T 3_prime_UTR_variant PACA-CA 8 74699738 74699738 single base substitution G T downstream_gene_variant PACA-CA 8 74699738 74699738 single base substitution G T intron_variant PACA-CA 8 74699755 74699755 single base substitution G C 3_prime_UTR_variant PACA-CA 8 74699755 74699755 single base substitution G C downstream_gene_variant PACA-CA 8 74699755 74699755 single base substitution G C intron_variant PACA-CA 8 74700180 74700180 single base substitution G A 3_prime_UTR_variant PACA-CA 8 74700180 74700180 single base substitution G A downstream_gene_variant PACA-CA 8 74700180 74700180 single base substitution G A intron_variant PACA-CA 8 74700192 74700192 single base substitution G C 3_prime_UTR_variant PACA-CA 8 74700192 74700192 single base substitution G C downstream_gene_variant PACA-CA 8 74700192 74700192 single base substitution G C intron_variant PACA-CA 8 74700272 74700272 single base substitution G A 3_prime_UTR_variant PACA-CA 8 74700272 74700272 single base substitution G A downstream_gene_variant PACA-CA 8 74700272 74700272 single base substitution G A intron_variant PACA-CA 8 74700317 74700317 single base substitution G C 3_prime_UTR_variant PACA-CA 8 74700317 74700317 single base substitution G C downstream_gene_variant PACA-CA 8 74700317 74700317 single base substitution G C intron_variant PACA-CA 8 74700440 74700440 single base substitution G T 3_prime_UTR_variant PACA-CA 8 74700440 74700440 single base substitution G T downstream_gene_variant PACA-CA 8 74700440 74700440 single base substitution G T intron_variant PACA-CA 8 74700469 74700469 single base substitution G C 3_prime_UTR_variant PACA-CA 8 74700469 74700469 single base substitution G C downstream_gene_variant PACA-CA 8 74700469 74700469 single base substitution G C intron_variant PACA-CA 8 74701626 74701626 single base substitution G A 3_prime_UTR_variant PACA-CA 8 74701626 74701626 single base substitution G A downstream_gene_variant PACA-CA 8 74701626 74701626 single base substitution G A intron_variant PACA-CA 8 74707099 74707099 single base substitution A G intron_variant PACA-CA 8 74707648 74707648 single base substitution C G intron_variant PACA-CA 8 74712453 74712453 single base substitution G T intron_variant PACA-CA 8 74713157 74713157 single base substitution A T intron_variant PACA-CA 8 74714807 74714807 insertion of <=200bp - A intron_variant PACA-CA 8 74715767 74715767 single base substitution T C intron_variant PACA-CA 8 74720565 74720565 single base substitution G T intron_variant PACA-CA 8 74722153 74722153 deletion of <=200bp T - intron_variant PACA-CA 8 74723305 74723305 single base substitution T C intron_variant PACA-CA 8 74724086 74724086 single base substitution A C intron_variant PACA-CA 8 74726136 74726136 single base substitution T A intron_variant PACA-CA 8 74726363 74726363 single base substitution C T intron_variant PACA-CA 8 74729294 74729294 single base substitution C T intron_variant PACA-CA 8 74729793 74729793 single base substitution G A intron_variant PACA-CA 8 74731469 74731469 single base substitution A C intron_variant PACA-CA 8 74731624 74731624 single base substitution C T intron_variant PACA-CA 8 74731870 74731870 single base substitution G A intron_variant PACA-CA 8 74733008 74733008 single base substitution A G intron_variant PACA-CA 8 74734866 74734866 single base substitution A T intron_variant PACA-CA 8 74735213 74735213 single base substitution T C intron_variant PACA-CA 8 74737363 74737363 single base substitution T A intron_variant PACA-CA 8 74741539 74741539 single base substitution T C intron_variant PACA-CA 8 74743029 74743029 insertion of <=200bp - A intron_variant PACA-CA 8 74743029 74743029 insertion of <=200bp - A upstream_gene_variant PACA-CA 8 74743964 74743964 single base substitution T A intron_variant PACA-CA 8 74743964 74743964 single base substitution T A upstream_gene_variant PACA-CA 8 74747462 74747462 single base substitution C A intron_variant PACA-CA 8 74747462 74747462 single base substitution C A upstream_gene_variant PACA-CA 8 74748626 74748626 single base substitution A T intron_variant PACA-CA 8 74749171 74749191 deletion of <=200bp AGAAACCATGGGGGAAAAGGG - intron_variant PACA-CA 8 74749711 74749711 single base substitution G A intron_variant PACA-CA 8 74750247 74750247 single base substitution A G intron_variant PACA-CA 8 74755970 74755970 single base substitution T C intron_variant PACA-CA 8 74756693 74756693 single base substitution G A intron_variant PACA-CA 8 74759857 74759857 single base substitution C T intron_variant PACA-CA 8 74760744 74760744 single base substitution C T intron_variant PACA-CA 8 74763114 74763114 single base substitution A T intron_variant PACA-CA 8 74766210 74766210 single base substitution C A intron_variant PACA-CA 8 74773350 74773350 single base substitution C T intron_variant PACA-CA 8 74779286 74779286 single base substitution T C intron_variant PACA-CA 8 74779615 74779615 single base substitution C G intron_variant PACA-CA 8 74779838 74779838 single base substitution C G intron_variant PACA-CA 8 74782402 74782402 single base substitution A C intron_variant PACA-CA 8 74786353 74786353 single base substitution G T intron_variant PACA-CA 8 74789533 74789533 single base substitution C T intron_variant PACA-CA 8 74791167 74791167 single base substitution G A upstream_gene_variant PACA-CA 8 74791855 74791855 single base substitution T A upstream_gene_variant PACA-CA 8 74791905 74791905 single base substitution T C upstream_gene_variant PACA-CA 8 74796091 74796091 single base substitution C T upstream_gene_variant PAEN-AU 8 74732352 74732352 single base substitution A C intron_variant PAEN-AU 8 74756986 74756986 single base substitution G A intron_variant PAEN-AU 8 74790885 74790885 single base substitution A C intron_variant PAEN-AU 8 74792122 74792124 deletion of <=200bp AAA - upstream_gene_variant PAEN-IT 8 74698235 74698235 single base substitution G T downstream_gene_variant PAEN-IT 8 74698235 74698235 single base substitution G T intron_variant PBCA-DE 8 74691819 74691819 insertion of <=200bp - A downstream_gene_variant PBCA-DE 8 74697036 74697036 single base substitution C A downstream_gene_variant PBCA-DE 8 74697036 74697036 single base substitution C A intron_variant PBCA-DE 8 74698081 74698081 single base substitution A G downstream_gene_variant PBCA-DE 8 74698081 74698081 single base substitution A G intron_variant PBCA-DE 8 74720925 74720925 single base substitution G A intron_variant PBCA-DE 8 74722506 74722506 single base substitution C A intron_variant PBCA-DE 8 74725306 74725306 single base substitution C A intron_variant PBCA-DE 8 74726921 74726921 deletion of <=200bp T - intron_variant PBCA-DE 8 74728663 74728663 insertion of <=200bp - A intron_variant PBCA-DE 8 74728917 74728917 single base substitution A C intron_variant PBCA-DE 8 74747824 74747824 insertion of <=200bp - A intron_variant PBCA-DE 8 74755765 74755765 single base substitution G A intron_variant PBCA-DE 8 74757314 74757314 single base substitution A C intron_variant PBCA-DE 8 74757320 74757320 single base substitution T C intron_variant PBCA-DE 8 74763802 74763802 deletion of <=200bp G - intron_variant PBCA-DE 8 74769483 74769483 insertion of <=200bp - A intron_variant PBCA-DE 8 74781165 74781165 single base substitution T C intron_variant PBCA-DE 8 74791855 74791855 single base substitution T A upstream_gene_variant PBCA-DE 8 74796019 74796019 single base substitution T G upstream_gene_variant PRAD-CA 8 74700232 74700232 single base substitution T C 3_prime_UTR_variant PRAD-CA 8 74700232 74700232 single base substitution T C downstream_gene_variant PRAD-CA 8 74700232 74700232 single base substitution T C intron_variant PRAD-CA 8 74707105 74707105 single base substitution G A intron_variant PRAD-CA 8 74724120 74724120 single base substitution G A intron_variant PRAD-CA 8 74731922 74731922 single base substitution A G intron_variant PRAD-CA 8 74771218 74771218 single base substitution T C intron_variant PRAD-CA 8 74771222 74771222 single base substitution T C intron_variant PRAD-CA 8 74777297 74777297 single base substitution G C intron_variant PRAD-CA 8 74792771 74792771 single base substitution A G upstream_gene_variant PRAD-CA 8 74795336 74795336 single base substitution G T upstream_gene_variant PRAD-UK 8 74702074 74702074 insertion of <=200bp - AAAT 3_prime_UTR_variant PRAD-UK 8 74702074 74702074 insertion of <=200bp - AAAT downstream_gene_variant PRAD-UK 8 74702074 74702074 insertion of <=200bp - AAAT intron_variant PRAD-UK 8 74702096 74702096 insertion of <=200bp - ATAA 3_prime_UTR_variant PRAD-UK 8 74702096 74702096 insertion of <=200bp - ATAA downstream_gene_variant PRAD-UK 8 74702096 74702096 insertion of <=200bp - ATAA intron_variant PRAD-UK 8 74706194 74706194 single base substitution C T 3_prime_UTR_variant PRAD-UK 8 74706194 74706194 single base substitution C T downstream_gene_variant PRAD-UK 8 74706194 74706194 single base substitution C T intron_variant PRAD-UK 8 74746007 74746007 insertion of <=200bp - T intron_variant PRAD-UK 8 74746007 74746007 insertion of <=200bp - T upstream_gene_variant PRAD-UK 8 74753064 74753064 single base substitution G C intron_variant PRAD-UK 8 74754440 74754440 single base substitution G A intron_variant PRAD-UK 8 74754743 74754743 single base substitution G A intron_variant PRAD-UK 8 74761090 74761090 single base substitution T C intron_variant PRAD-UK 8 74791906 74791906 single base substitution C A upstream_gene_variant READ-US 8 74742627 74742627 single base substitution A C exon_variant READ-US 8 74742627 74742627 single base substitution A C missense_variant N27K 81T>G READ-US 8 74742627 74742627 single base substitution A C missense_variant N32K 96T>G READ-US 8 74742627 74742627 single base substitution A C missense_variant N43K 129T>G READ-US 8 74742627 74742627 single base substitution A C missense_variant N61K 183T>G READ-US 8 74742627 74742627 single base substitution A C missense_variant N72K 216T>G RECA-EU 8 74690118 74690118 single base substitution G A downstream_gene_variant RECA-EU 8 74694579 74694579 single base substitution C T downstream_gene_variant RECA-EU 8 74694579 74694579 single base substitution C T intron_variant RECA-EU 8 74734774 74734774 single base substitution C A intron_variant RECA-EU 8 74743081 74743081 single base substitution A G intron_variant RECA-EU 8 74743081 74743081 single base substitution A G upstream_gene_variant RECA-EU 8 74759573 74759573 single base substitution G C intron_variant RECA-EU 8 74776754 74776754 single base substitution C T intron_variant RECA-EU 8 74783231 74783231 single base substitution T G intron_variant RECA-EU 8 74785986 74785986 single base substitution T C intron_variant SKCA-BR 8 74687650 74687650 single base substitution C T downstream_gene_variant SKCA-BR 8 74689930 74689930 single base substitution C T downstream_gene_variant SKCA-BR 8 74690211 74690211 single base substitution G A downstream_gene_variant SKCA-BR 8 74690443 74690443 single base substitution G A downstream_gene_variant SKCA-BR 8 74690992 74690992 single base substitution G A downstream_gene_variant SKCA-BR 8 74693099 74693099 single base substitution T C intron_variant SKCA-BR 8 74694505 74694505 single base substitution G A downstream_gene_variant SKCA-BR 8 74694505 74694505 single base substitution G A intron_variant SKCA-BR 8 74694574 74694574 single base substitution C T downstream_gene_variant SKCA-BR 8 74694574 74694574 single base substitution C T intron_variant SKCA-BR 8 74699637 74699637 single base substitution G A 3_prime_UTR_variant SKCA-BR 8 74699637 74699637 single base substitution G A downstream_gene_variant SKCA-BR 8 74699637 74699637 single base substitution G A intron_variant SKCA-BR 8 74707119 74707119 single base substitution G A intron_variant SKCA-BR 8 74708148 74708148 single base substitution C T intron_variant SKCA-BR 8 74708148 74708148 single base substitution C T splice_region_variant SKCA-BR 8 74708570 74708570 single base substitution T C intron_variant SKCA-BR 8 74712622 74712622 single base substitution G A intron_variant SKCA-BR 8 74714635 74714635 single base substitution G A intron_variant SKCA-BR 8 74714836 74714836 single base substitution A T intron_variant SKCA-BR 8 74716583 74716583 insertion of <=200bp - GGGGAT intron_variant SKCA-BR 8 74716877 74716877 single base substitution G A intron_variant SKCA-BR 8 74718709 74718709 single base substitution T G intron_variant SKCA-BR 8 74722579 74722579 single base substitution G A intron_variant SKCA-BR 8 74725256 74725256 single base substitution G A intron_variant SKCA-BR 8 74726264 74726264 single base substitution G A intron_variant SKCA-BR 8 74726523 74726523 single base substitution C T intron_variant SKCA-BR 8 74726920 74726920 single base substitution A T intron_variant SKCA-BR 8 74733081 74733081 single base substitution G A intron_variant SKCA-BR 8 74733350 74733350 single base substitution G A intron_variant SKCA-BR 8 74737828 74737828 single base substitution G A intron_variant SKCA-BR 8 74740567 74740567 single base substitution G A intron_variant SKCA-BR 8 74745241 74745241 single base substitution G A intron_variant SKCA-BR 8 74745241 74745241 single base substitution G A upstream_gene_variant SKCA-BR 8 74747467 74747468 deletion of <=200bp GA - intron_variant SKCA-BR 8 74747467 74747468 deletion of <=200bp GA - upstream_gene_variant SKCA-BR 8 74754849 74754849 single base substitution G A intron_variant SKCA-BR 8 74755824 74755824 single base substitution C T intron_variant SKCA-BR 8 74757288 74757288 insertion of <=200bp - TGGG intron_variant SKCA-BR 8 74757291 74757291 single base substitution C G intron_variant SKCA-BR 8 74757314 74757314 single base substitution A C intron_variant SKCA-BR 8 74757320 74757320 single base substitution T C intron_variant SKCA-BR 8 74764198 74764198 single base substitution T A intron_variant SKCA-BR 8 74764200 74764200 single base substitution A T intron_variant SKCA-BR 8 74764226 74764226 single base substitution T G intron_variant SKCA-BR 8 74765596 74765596 single base substitution T C intron_variant SKCA-BR 8 74768592 74768592 insertion of <=200bp - ATT intron_variant SKCA-BR 8 74772899 74772899 single base substitution T C intron_variant SKCA-BR 8 74774646 74774646 single base substitution G A intron_variant SKCA-BR 8 74775656 74775656 single base substitution A C intron_variant SKCA-BR 8 74776413 74776413 single base substitution G A intron_variant SKCA-BR 8 74778525 74778525 insertion of <=200bp - AT intron_variant SKCA-BR 8 74778526 74778527 deletion of <=200bp AT - intron_variant SKCA-BR 8 74783666 74783666 single base substitution G A intron_variant SKCA-BR 8 74784653 74784653 single base substitution A T intron_variant SKCA-BR 8 74789496 74789496 single base substitution G A intron_variant SKCA-BR 8 74790352 74790352 single base substitution G A intron_variant SKCM-US 8 74722759 74722759 single base substitution G A 3_prime_UTR_variant SKCM-US 8 74722759 74722759 single base substitution G A stop_gained Q101* 301C>T SKCM-US 8 74722759 74722759 single base substitution G A stop_gained Q106* 316C>T SKCM-US 8 74722759 74722759 single base substitution G A stop_gained Q117* 349C>T SKCM-US 8 74722759 74722759 single base substitution G A stop_gained Q135* 403C>T SKCM-US 8 74722759 74722759 single base substitution G A stop_gained Q146* 436C>T STAD-US 8 74722818 74722818 single base substitution C A exon_variant STAD-US 8 74722818 74722818 single base substitution C A missense_variant S115I 344G>T STAD-US 8 74722818 74722818 single base substitution C A missense_variant S126I 377G>T STAD-US 8 74722818 74722818 single base substitution C A missense_variant S81I 242G>T STAD-US 8 74722818 74722818 single base substitution C A missense_variant S86I 257G>T STAD-US 8 74722818 74722818 single base substitution C A missense_variant S97I 290G>T STAD-US 8 74742629 74742629 single base substitution T G exon_variant STAD-US 8 74742629 74742629 single base substitution T G missense_variant N27H 79A>C STAD-US 8 74742629 74742629 single base substitution T G missense_variant N32H 94A>C STAD-US 8 74742629 74742629 single base substitution T G missense_variant N43H 127A>C STAD-US 8 74742629 74742629 single base substitution T G missense_variant N61H 181A>C STAD-US 8 74742629 74742629 single base substitution T G missense_variant N72H 214A>C THCA-SA 8 74703649 74703649 single base substitution C T 3_prime_UTR_variant THCA-SA 8 74703649 74703649 single base substitution C T downstream_gene_variant THCA-SA 8 74703649 74703649 single base substitution C T intron_variant THCA-US 8 74717937 74717937 deletion of <=200bp A - 3_prime_UTR_variant THCA-US 8 74717937 74717937 deletion of <=200bp A - frameshift_variant Y126 THCA-US 8 74717937 74717937 deletion of <=200bp A - frameshift_variant Y131 THCA-US 8 74717937 74717937 deletion of <=200bp A - frameshift_variant Y142 THCA-US 8 74717937 74717937 deletion of <=200bp A - frameshift_variant Y160 THCA-US 8 74717937 74717937 deletion of <=200bp A - frameshift_variant Y171 UCEC-US 8 74706344 74706344 single base substitution G T 3_prime_UTR_variant UCEC-US 8 74706344 74706344 single base substitution G T intron_variant UCEC-US 8 74706344 74706344 single base substitution G T missense_variant T150N 449C>A UCEC-US 8 74706344 74706344 single base substitution G T missense_variant T161N 482C>A UCEC-US 8 74706344 74706344 single base substitution G T missense_variant T179N 536C>A UCEC-US 8 74706344 74706344 single base substitution G T missense_variant T190N 569C>A UCEC-US 8 74717942 74717942 single base substitution G T 3_prime_UTR_variant UCEC-US 8 74717942 74717942 single base substitution G T missense_variant S124Y 371C>A UCEC-US 8 74717942 74717942 single base substitution G T missense_variant S129Y 386C>A UCEC-US 8 74717942 74717942 single base substitution G T missense_variant S140Y 419C>A UCEC-US 8 74717942 74717942 single base substitution G T missense_variant S158Y 473C>A UCEC-US 8 74717942 74717942 single base substitution G T missense_variant S169Y 506C>A UCEC-US 8 74722769 74722769 single base substitution C T 3_prime_UTR_variant UCEC-US 8 74722769 74722769 single base substitution C T synonymous_variant A102A 306G>A UCEC-US 8 74722769 74722769 single base substitution C T synonymous_variant A113A 339G>A UCEC-US 8 74722769 74722769 single base substitution C T synonymous_variant A131A 393G>A UCEC-US 8 74722769 74722769 single base substitution C T synonymous_variant A142A 426G>A UCEC-US 8 74722769 74722769 single base substitution C T synonymous_variant A97A 291G>A UCEC-US 8 74742625 74742625 single base substitution G T exon_variant UCEC-US 8 74742625 74742625 single base substitution G T stop_gained S28* 83C>A UCEC-US 8 74742625 74742625 single base substitution G T stop_gained S33* 98C>A UCEC-US 8 74742625 74742625 single base substitution G T stop_gained S44* 131C>A UCEC-US 8 74742625 74742625 single base substitution G T stop_gained S62* 185C>A UCEC-US 8 74742625 74742625 single base substitution G T stop_gained S73* 218C>A UCEC-US 8 74742654 74742654 single base substitution C A exon_variant UCEC-US 8 74742654 74742654 single base substitution C A missense_variant M18I 54G>T UCEC-US 8 74742654 74742654 single base substitution C A missense_variant M23I 69G>T UCEC-US 8 74742654 74742654 single base substitution C A missense_variant M34I 102G>T UCEC-US 8 74742654 74742654 single base substitution C A missense_variant M52I 156G>T UCEC-US 8 74742654 74742654 single base substitution C A missense_variant M63I 189G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand tumor_4188900 COSM3358278 c.48+8T>A p.? Unknown 8:73870261-73870261 - TCGA-B5-A11E-01 COSM1597796 c.339G>A p.A113A Substitution - coding silent 8:73810534-73810534 - TCGA-BR-8589-01 COSM3901507 c.127A>C p.N43H Substitution - Missense 8:73830394-73830394 - TCGA-B8-5163-01 COSM1137902 c.91C>A p.P31T Substitution - Missense 8:73830430-73830430 - ESOSCC161T COSM1173424 c.244G>A p.V82I Substitution - Missense 8:73810629-73810629 - ATL032 COSM5711014 c.34G>A p.E12K Substitution - Missense 8:73870283-73870283 - TCGA-F5-6814-01 COSM3432556 c.129T>G p.N43K Substitution - Missense 8:73830392-73830392 - TCGA-AP-A059-01 COSM1597800 c.482C>A p.T161N Substitution - Missense 8:73794109-73794109 - LUAD-S01409 COSM346938 c.293A>G p.N98S Substitution - Missense 8:73810580-73810580 - TCGA-AX-A05Z-01 COSM1597798 c.419C>A p.S140Y Substitution - Missense 8:73805707-73805707 - TCGA-B5-A0JY-01 COSM1597794 c.131C>A p.S44* Substitution - Nonsense 8:73830390-73830390 - TCGA-AP-A056-01 COSM1597792 c.102G>T p.M34I Substitution - Missense 8:73830419-73830419 - PDA_050 COSM5000688 c.52C>T p.R18* Substitution - Nonsense 8:73830469-73830469 - TCGA-A2-A1FV-01 COSM1489424 c.404G>A p.R135Q Substitution - Missense 8:73805722-73805722 - TCGA-BR-6852-01 COSM3901505 c.290G>T p.S97I Substitution - Missense 8:73810583-73810583 - CRC-19T COSM5482219 c.48+10T>C p.? Unknown 8:73870259-73870259 - NCI-H747 COSM2875552 c.232G>A p.D78N Substitution - Missense 8:73825158-73825158 - sysucc-1370T COSM5472610 c.409C>T p.P137S Substitution - Missense 8:73805717-73805717 - TCGA-G4-6309-01 COSM1458205 c.430C>T p.R144* Substitution - Nonsense 8:73805696-73805696 - CCK81 COSM2875550 c.242A>G p.Q81R Substitution - Missense 8:73825148-73825148 - TCGA-FW-A3R5-06 COSM3925579 c.349C>T p.Q117* Substitution - Nonsense 8:73810524-73810524 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.128837;Hs.128841 8q21.11 614277

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.244-1675T>G 8 74724539 CLL A - Frameshift p.Y142Mfs*119 c.424delT 8 74717937 THCA C A Missense p.G33V c.98G>T 8 74742658 LUAD C A Missense p.S97I c.290G>T 8 74722818 STAD CC AA SpliceDonorBlockSubstitution . c.399_399+1delinsTT 8 74722708 GBM C T IntronicSNV . c.49-8600G>A 8 74751307 PIA C T Missense p.R135Q c.404G>A 8 74717957 BRCA GT - IntronicDeletion . c.48+11288_48+11289delAC 8 74771215 CM G T Missense p.P31T c.91C>A 8 74742665 RCCC T C 3-UTRSNV . c.486+1417A>G 8 74704923 HC