Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 10 46028623 46028623 + Missense_Mutation SNP A A G TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr10:46028623A>G c.37T>C c.(37-39)Tcc>Ccc p.S13P BLCA 10 45956740 45956740 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr10:45956740C>T c.362G>A c.(361-363)cGc>cAc p.R121H BLCA 10 46028655 46028655 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 g.chr10:46028655C>T c.5G>A c.(4-6)aGc>aAc p.S2N BRCA 10 45956741 45956741 + Missense_Mutation SNP G G A TCGA-AC-A2FG-01A-11D-A17D-09 TCGA-AC-A2FG-11A-22D-A17D-09 g.chr10:45956741G>A c.361C>T c.(361-363)Cgc>Tgc p.R121C BRCA 10 45956754 45956754 + Silent SNP C C T TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 g.chr10:45956754C>T c.348G>A c.(346-348)aaG>aaA p.K116K CHOL 10 46028613 46028613 + Missense_Mutation SNP G G A TCGA-W5-AA2U-01A-11D-A417-09 TCGA-W5-AA2U-10A-01D-A41A-09 g.chr10:46028613G>A c.47C>T c.(46-48)gCc>gTc p.A16V COAD 10 45953759 45953759 + Silent SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr10:45953759G>T c.804C>A c.(802-804)atC>atA p.I268I COAD 10 45954652 45954652 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr10:45954652C>T c.487G>A c.(487-489)Gtc>Atc p.V163I COAD 10 45954685 45954685 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr10:45954685G>A c.454C>T c.(454-456)Cgc>Tgc p.R152C COAD 10 45956732 45956732 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr10:45956732C>T c.370G>A c.(370-372)Gag>Aag p.E124K COAD 10 46028655 46028655 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr10:46028655C>T c.5G>A c.(4-6)aGc>aAc p.S2N COADREAD 10 45953749 45953749 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:45953749C>T c.814G>A c.(814-816)Gac>Aac p.D272N COADREAD 10 45953759 45953759 + Silent SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr10:45953759G>T c.804C>A c.(802-804)atC>atA p.I268I COADREAD 10 45954652 45954652 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr10:45954652C>T c.487G>A c.(487-489)Gtc>Atc p.V163I COADREAD 10 45954685 45954685 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr10:45954685G>A c.454C>T c.(454-456)Cgc>Tgc p.R152C COADREAD 10 45956732 45956732 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr10:45956732C>T c.370G>A c.(370-372)Gag>Aag p.E124K COADREAD 10 46028575 46028575 + Missense_Mutation SNP T T C TCGA-AG-3581-01A-01W-0831-10 TCGA-AG-3581-10A-01W-0831-10 g.chr10:46028575T>C c.85A>G c.(85-87)Aag>Gag p.K29E COADREAD 10 46028655 46028655 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr10:46028655C>T c.5G>A c.(4-6)aGc>aAc p.S2N ESCA 10 45953829 45953829 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 g.chr10:45953829C>T c.734G>A c.(733-735)aGc>aAc p.S245N ESCA 10 45953909 45953909 + Silent SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 g.chr10:45953909C>T c.654G>A c.(652-654)caG>caA p.Q218Q GBMLGG 10 45953818 45953818 + Missense_Mutation SNP T T C TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 g.chr10:45953818T>C c.745A>G c.(745-747)Att>Gtt p.I249V GBMLGG 10 45956831 45956831 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr10:45956831T>C c.271A>G c.(271-273)Agc>Ggc p.S91G HNSC 10 45956740 45956740 + Missense_Mutation SNP C C G TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr10:45956740C>G c.362G>C c.(361-363)cGc>cCc p.R121P HNSC 10 45956749 45956749 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr10:45956749G>A c.353C>T c.(352-354)tCc>tTc p.S118F KIPAN 10 45953840 45953840 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr10:45953840A>G c.723T>C c.(721-723)tgT>tgC p.C241C KIPAN 10 45953921 45953921 + Frame_Shift_Del DEL A A - TCGA-5P-A9JV-01A-12D-A42J-10 TCGA-5P-A9JV-10A-01D-A42M-10 g.chr10:45953921delA c.642delT c.(640-642)tttfs p.F214fs KIPAN 10 45959707 45959707 + Silent SNP T T A TCGA-BP-4968-01A-01D-1462-08 TCGA-BP-4968-11A-01D-1462-08 g.chr10:45959707T>A c.222A>T c.(220-222)ccA>ccT p.P74P KIRC 10 45953840 45953840 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr10:45953840A>G c.723T>C c.(721-723)tgT>tgC p.C241C KIRC 10 45959707 45959707 + Silent SNP T T A TCGA-BP-4968-01A-01D-1462-08 TCGA-BP-4968-11A-01D-1462-08 g.chr10:45959707T>A c.222A>T c.(220-222)ccA>ccT p.P74P KIRP 10 45953921 45953921 + Frame_Shift_Del DEL A A - TCGA-5P-A9JV-01A-12D-A42J-10 TCGA-5P-A9JV-10A-01D-A42M-10 g.chr10:45953921delA c.642delT c.(640-642)tttfs p.F214fs LGG 10 45953818 45953818 + Missense_Mutation SNP T T C TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 g.chr10:45953818T>C c.745A>G c.(745-747)Att>Gtt p.I249V LGG 10 45956831 45956831 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr10:45956831T>C c.271A>G c.(271-273)Agc>Ggc p.S91G LIHC 10 45954578 45954578 + Frame_Shift_Del DEL C C - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr10:45954578delC c.561delG c.(559-561)gggfs p.G187fs LIHC 10 45954609 45954609 + Missense_Mutation SNP A A G TCGA-2Y-A9HA-01A-11D-A38X-10 TCGA-2Y-A9HA-10A-01D-A38X-10 g.chr10:45954609A>G c.530T>C c.(529-531)aTt>aCt p.I177T LUAD 10 45953764 45953764 + Nonsense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 g.chr10:45953764C>A c.799G>T c.(799-801)Gga>Tga p.G267* LUAD 10 45953770 45953770 + Nonsense_Mutation SNP C C A TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr10:45953770C>A c.793G>T c.(793-795)Gga>Tga p.G265* LUAD 10 45954695 45954695 + Silent SNP C C A TCGA-55-7913-01B-11D-2238-08 TCGA-55-7913-10A-01D-2238-08 g.chr10:45954695C>A c.444G>T c.(442-444)acG>acT p.T148T LUAD 10 45956749 45956749 + Missense_Mutation SNP G G A TCGA-50-5044-01A-21D-1855-08 TCGA-50-5044-10A-01D-1855-08 g.chr10:45956749G>A c.353C>T c.(352-354)tCc>tTc p.S118F LUAD 10 45959700 45959700 + Nonsense_Mutation SNP G G A TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr10:45959700G>A c.229C>T c.(229-231)Cag>Tag p.Q77* LUSC 10 45953836 45953836 + Nonsense_Mutation SNP C C A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 g.chr10:45953836C>A c.727G>T c.(727-729)Gaa>Taa p.E243* LUSC 10 45959739 45959739 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr10:45959739C>T c.190G>A c.(190-192)Gtg>Atg p.V64M PAAD 10 45954652 45954652 + Missense_Mutation SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 g.chr10:45954652C>T c.487G>A c.(487-489)Gtc>Atc p.V163I READ 10 45953749 45953749 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:45953749C>T c.814G>A c.(814-816)Gac>Aac p.D272N READ 10 46028575 46028575 + Missense_Mutation SNP T T C TCGA-AG-3581-01A-01W-0831-10 TCGA-AG-3581-10A-01W-0831-10 g.chr10:46028575T>C c.85A>G c.(85-87)Aag>Gag p.K29E SKCM 10 45953750 45953750 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr10:45953750G>A c.813C>T c.(811-813)tcC>tcT p.S271S SKCM 10 45953816 45953816 + Missense_Mutation SNP A A C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr10:45953816A>C c.747T>G c.(745-747)atT>atG p.I249M SKCM 10 46028622 46028622 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr10:46028622G>A c.38C>T c.(37-39)tCc>tTc p.S13F

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 10 46047757 46047757 single base substitution T A intron_variant BRCA-EU 10 45945943 45945943 single base substitution T A downstream_gene_variant BRCA-EU 10 45946381 45946381 single base substitution T A downstream_gene_variant BRCA-EU 10 45947677 45947677 deletion of <=200bp A - downstream_gene_variant BRCA-EU 10 45947677 45947677 insertion of <=200bp - A downstream_gene_variant BRCA-EU 10 45948120 45948120 single base substitution G A downstream_gene_variant BRCA-EU 10 45948245 45948245 single base substitution G A downstream_gene_variant BRCA-EU 10 45949600 45949600 single base substitution C G downstream_gene_variant BRCA-EU 10 45951646 45951646 single base substitution T G 3_prime_UTR_variant BRCA-EU 10 45951646 45951646 single base substitution T G downstream_gene_variant BRCA-EU 10 45951788 45951788 single base substitution G A 3_prime_UTR_variant BRCA-EU 10 45951788 45951788 single base substitution G A downstream_gene_variant BRCA-EU 10 45951984 45951986 deletion of <=200bp CTT - 3_prime_UTR_variant BRCA-EU 10 45951984 45951986 deletion of <=200bp CTT - downstream_gene_variant BRCA-EU 10 45953091 45953091 single base substitution G C 3_prime_UTR_variant BRCA-EU 10 45953091 45953091 single base substitution G C downstream_gene_variant BRCA-EU 10 45953091 45953091 single base substitution G C exon_variant BRCA-EU 10 45953425 45953425 single base substitution A T 3_prime_UTR_variant BRCA-EU 10 45953425 45953425 single base substitution A T downstream_gene_variant BRCA-EU 10 45953425 45953425 single base substitution A T exon_variant BRCA-EU 10 45955334 45955334 single base substitution C T downstream_gene_variant BRCA-EU 10 45955334 45955334 single base substitution C T intron_variant BRCA-EU 10 45956088 45956088 single base substitution C T downstream_gene_variant BRCA-EU 10 45956088 45956088 single base substitution C T intron_variant BRCA-EU 10 45957005 45957005 single base substitution C T exon_variant BRCA-EU 10 45957005 45957005 single base substitution C T intron_variant BRCA-EU 10 45957553 45957553 single base substitution G T exon_variant BRCA-EU 10 45957553 45957553 single base substitution G T intron_variant BRCA-EU 10 45957613 45957613 single base substitution C T exon_variant BRCA-EU 10 45957613 45957613 single base substitution C T intron_variant BRCA-EU 10 45957916 45957916 single base substitution G T intron_variant BRCA-EU 10 45957916 45957916 single base substitution G T upstream_gene_variant BRCA-EU 10 45959646 45959646 single base substitution G A intron_variant BRCA-EU 10 45959646 45959646 single base substitution G A upstream_gene_variant BRCA-EU 10 45959747 45959747 single base substitution G A exon_variant BRCA-EU 10 45959747 45959747 single base substitution G A missense_variant P61L 182C>T BRCA-EU 10 45959747 45959747 single base substitution G A upstream_gene_variant BRCA-EU 10 45961161 45961161 single base substitution C A intron_variant BRCA-EU 10 45961161 45961161 single base substitution C A upstream_gene_variant BRCA-EU 10 45962657 45962657 single base substitution C T intron_variant BRCA-EU 10 45963981 45963981 single base substitution G C intron_variant BRCA-EU 10 45964389 45964389 single base substitution T C intron_variant BRCA-EU 10 45966304 45966304 single base substitution A T intron_variant BRCA-EU 10 45967413 45967413 single base substitution G A intron_variant BRCA-EU 10 45967464 45967464 single base substitution G C intron_variant BRCA-EU 10 45968443 45968443 single base substitution G A intron_variant BRCA-EU 10 45971023 45971023 single base substitution C T intron_variant BRCA-EU 10 45971681 45971681 single base substitution T C intron_variant BRCA-EU 10 45973979 45973979 single base substitution T C intron_variant BRCA-EU 10 45975115 45975115 single base substitution C T intron_variant BRCA-EU 10 45975490 45975490 single base substitution G A intron_variant BRCA-EU 10 45978845 45978845 single base substitution C A intron_variant BRCA-EU 10 45979384 45979384 single base substitution G A intron_variant BRCA-EU 10 45980721 45980721 single base substitution G A intron_variant BRCA-EU 10 45980945 45980945 single base substitution A G intron_variant BRCA-EU 10 45981902 45981902 single base substitution C G intron_variant BRCA-EU 10 45982372 45982372 insertion of <=200bp - TGA intron_variant BRCA-EU 10 45983203 45983203 single base substitution G C intron_variant BRCA-EU 10 45984314 45984314 single base substitution G A intron_variant BRCA-EU 10 45984407 45984407 single base substitution C T intron_variant BRCA-EU 10 45986590 45986590 single base substitution C G intron_variant BRCA-EU 10 45986756 45986756 single base substitution C T intron_variant BRCA-EU 10 45987376 45987376 single base substitution T A intron_variant BRCA-EU 10 45988603 45988603 single base substitution G A intron_variant BRCA-EU 10 45989481 45989481 single base substitution T G intron_variant BRCA-EU 10 45989705 45989705 single base substitution G T intron_variant BRCA-EU 10 45989706 45989706 single base substitution A T intron_variant BRCA-EU 10 45990383 45990383 single base substitution C T intron_variant BRCA-EU 10 45990511 45990511 single base substitution T C intron_variant BRCA-EU 10 45990672 45990672 single base substitution G A intron_variant BRCA-EU 10 45990680 45990680 single base substitution A C intron_variant BRCA-EU 10 45991488 45991488 deletion of <=200bp A - intron_variant BRCA-EU 10 45992297 45992297 single base substitution T A intron_variant BRCA-EU 10 45992790 45992790 single base substitution G A intron_variant BRCA-EU 10 45992936 45992936 single base substitution C G intron_variant BRCA-EU 10 45993867 45993867 single base substitution G A intron_variant BRCA-EU 10 45995513 45995513 single base substitution C T intron_variant BRCA-EU 10 45996055 45996055 single base substitution T C intron_variant BRCA-EU 10 45997111 45997111 single base substitution C G intron_variant BRCA-EU 10 45997227 45997227 single base substitution C T intron_variant BRCA-EU 10 45997447 45997447 single base substitution G A intron_variant BRCA-EU 10 45997582 45997582 single base substitution G A intron_variant BRCA-EU 10 45998433 45998433 single base substitution G C intron_variant BRCA-EU 10 45998483 45998483 single base substitution T A intron_variant BRCA-EU 10 45998486 45998522 deletion of <=200bp TCTATATTTTAGCGAAGTTTCTACACTACAATTGAAG - intron_variant BRCA-EU 10 46000940 46000940 single base substitution G A intron_variant BRCA-EU 10 46001727 46001727 single base substitution G A intron_variant BRCA-EU 10 46002651 46002651 single base substitution C G intron_variant BRCA-EU 10 46003213 46003213 single base substitution G C intron_variant BRCA-EU 10 46009619 46009619 single base substitution G A intron_variant BRCA-EU 10 46010965 46010965 single base substitution T C intron_variant BRCA-EU 10 46011974 46011974 single base substitution G A intron_variant BRCA-EU 10 46013064 46013064 single base substitution C T intron_variant BRCA-EU 10 46013787 46013787 single base substitution G A intron_variant BRCA-EU 10 46013931 46013931 single base substitution A G intron_variant BRCA-EU 10 46014398 46014398 single base substitution C T intron_variant BRCA-EU 10 46017093 46017093 single base substitution A C intron_variant BRCA-EU 10 46018498 46018498 deletion of <=200bp T - intron_variant BRCA-EU 10 46020203 46020203 single base substitution G C intron_variant BRCA-EU 10 46024600 46024601 deletion of <=200bp AC - intron_variant BRCA-EU 10 46025082 46025082 deletion of <=200bp A - intron_variant BRCA-EU 10 46025546 46025546 deletion of <=200bp A - intron_variant BRCA-EU 10 46025723 46025723 single base substitution G C intron_variant BRCA-EU 10 46027459 46027459 single base substitution G A intron_variant BRCA-EU 10 46028609 46028609 single base substitution G A exon_variant BRCA-EU 10 46028609 46028609 single base substitution G A synonymous_variant I17I 51C>T BRCA-EU 10 46028613 46028613 single base substitution G C exon_variant BRCA-EU 10 46028613 46028613 single base substitution G C missense_variant A16G 47C>G BRCA-EU 10 46029293 46029293 single base substitution C A intron_variant BRCA-EU 10 46030355 46030355 single base substitution A T intron_variant BRCA-EU 10 46030915 46030915 single base substitution G T intron_variant BRCA-EU 10 46030915 46030915 single base substitution G T upstream_gene_variant BRCA-EU 10 46031989 46031989 single base substitution C G intron_variant BRCA-EU 10 46031989 46031989 single base substitution C G upstream_gene_variant BRCA-EU 10 46033034 46033034 single base substitution G C intron_variant BRCA-EU 10 46033034 46033034 single base substitution G C upstream_gene_variant BRCA-EU 10 46033747 46033747 single base substitution A C intron_variant BRCA-EU 10 46033747 46033747 single base substitution A C upstream_gene_variant BRCA-EU 10 46034945 46034945 deletion of <=200bp A - intron_variant BRCA-EU 10 46034945 46034945 deletion of <=200bp A - upstream_gene_variant BRCA-EU 10 46035552 46035552 single base substitution A G intron_variant BRCA-EU 10 46035552 46035552 single base substitution A G upstream_gene_variant BRCA-EU 10 46035861 46035861 single base substitution T C intron_variant BRCA-EU 10 46035886 46035886 single base substitution C A intron_variant BRCA-EU 10 46036485 46036485 single base substitution A T intron_variant BRCA-EU 10 46036616 46036616 insertion of <=200bp - C intron_variant BRCA-EU 10 46037926 46037926 single base substitution G C intron_variant BRCA-EU 10 46038083 46038083 single base substitution G C intron_variant BRCA-EU 10 46038354 46038354 single base substitution G C intron_variant BRCA-EU 10 46039207 46039207 single base substitution C T intron_variant BRCA-EU 10 46040992 46040992 single base substitution G A intron_variant BRCA-EU 10 46041098 46041098 single base substitution G A intron_variant BRCA-EU 10 46043345 46043345 single base substitution G A intron_variant BRCA-EU 10 46043789 46043789 single base substitution G A intron_variant BRCA-EU 10 46043857 46043857 single base substitution C T intron_variant BRCA-EU 10 46044382 46044382 single base substitution G A intron_variant BRCA-EU 10 46045358 46045358 deletion of <=200bp A - intron_variant BRCA-EU 10 46047278 46047278 single base substitution G C intron_variant BRCA-EU 10 46048183 46048183 single base substitution C T intron_variant BRCA-EU 10 46052378 46052378 deletion of <=200bp A - intron_variant BRCA-EU 10 46052391 46052391 insertion of <=200bp - T intron_variant BRCA-EU 10 46052443 46052443 single base substitution C G intron_variant BRCA-EU 10 46052661 46052661 single base substitution C T intron_variant BRCA-EU 10 46053659 46053659 single base substitution A C intron_variant BRCA-EU 10 46054809 46054809 single base substitution G A intron_variant BRCA-EU 10 46055257 46055257 single base substitution T C intron_variant BRCA-EU 10 46056500 46056500 single base substitution G C intron_variant BRCA-EU 10 46057044 46057044 single base substitution A G intron_variant BRCA-EU 10 46057169 46057169 single base substitution A G intron_variant BRCA-EU 10 46058158 46058158 single base substitution G C intron_variant BRCA-EU 10 46059673 46059673 single base substitution G A intron_variant BRCA-EU 10 46060201 46060201 single base substitution A G intron_variant BRCA-EU 10 46061125 46061125 single base substitution C G intron_variant BRCA-EU 10 46061496 46061496 single base substitution T C intron_variant BRCA-EU 10 46061824 46061824 deletion of <=200bp T - intron_variant BRCA-EU 10 46063564 46063564 single base substitution G A intron_variant BRCA-EU 10 46063621 46063621 single base substitution G C intron_variant BRCA-EU 10 46064153 46064153 single base substitution G C intron_variant BRCA-EU 10 46064399 46064399 single base substitution G A intron_variant BRCA-EU 10 46064986 46064986 deletion of <=200bp C - intron_variant BRCA-EU 10 46066772 46066772 single base substitution C A intron_variant BRCA-EU 10 46070869 46070869 single base substitution C A intron_variant BRCA-EU 10 46071914 46071914 single base substitution T C intron_variant BRCA-EU 10 46072075 46072075 single base substitution G A intron_variant BRCA-EU 10 46073471 46073471 deletion of <=200bp A - intron_variant BRCA-EU 10 46075510 46075510 single base substitution G C intron_variant BRCA-EU 10 46078648 46078648 single base substitution A G intron_variant BRCA-EU 10 46079361 46079361 single base substitution G C intron_variant BRCA-EU 10 46080096 46080096 single base substitution A C intron_variant BRCA-EU 10 46081300 46081300 single base substitution G A intron_variant BRCA-EU 10 46083626 46083626 single base substitution G C intron_variant BRCA-EU 10 46084759 46084759 single base substitution A G downstream_gene_variant BRCA-EU 10 46084759 46084759 single base substitution A G intron_variant BRCA-EU 10 46085591 46085591 single base substitution G A downstream_gene_variant BRCA-EU 10 46085591 46085591 single base substitution G A intron_variant BRCA-EU 10 46086566 46086566 single base substitution G C downstream_gene_variant BRCA-EU 10 46086566 46086566 single base substitution G C intron_variant BRCA-EU 10 46087626 46087626 single base substitution G A downstream_gene_variant BRCA-EU 10 46087626 46087626 single base substitution G A intron_variant BRCA-EU 10 46088224 46088224 single base substitution T A downstream_gene_variant BRCA-EU 10 46088224 46088224 single base substitution T A intron_variant BRCA-EU 10 46089067 46089067 single base substitution G C exon_variant BRCA-EU 10 46089067 46089067 single base substitution G C intron_variant BRCA-EU 10 46089696 46089696 single base substitution C G 5_prime_UTR_variant BRCA-EU 10 46089696 46089696 single base substitution C G exon_variant BRCA-EU 10 46090028 46090028 single base substitution A C 5_prime_UTR_variant BRCA-EU 10 46090028 46090028 single base substitution A C exon_variant BRCA-EU 10 46090028 46090028 single base substitution A C upstream_gene_variant BRCA-EU 10 46090131 46090131 deletion of <=200bp G - 5_prime_UTR_variant BRCA-EU 10 46090131 46090131 deletion of <=200bp G - upstream_gene_variant BRCA-EU 10 46090138 46090138 single base substitution C T 5_prime_UTR_variant BRCA-EU 10 46090138 46090138 single base substitution C T upstream_gene_variant BRCA-EU 10 46091641 46091641 single base substitution G T upstream_gene_variant BRCA-EU 10 46091658 46091658 single base substitution C G upstream_gene_variant BRCA-EU 10 46092466 46092466 single base substitution G A upstream_gene_variant BRCA-EU 10 46092868 46092868 single base substitution G A upstream_gene_variant BRCA-EU 10 46093113 46093113 single base substitution G C upstream_gene_variant BRCA-EU 10 46093229 46093229 single base substitution T G upstream_gene_variant BRCA-EU 10 46094205 46094205 deletion of <=200bp T - upstream_gene_variant BRCA-EU 10 46094268 46094268 single base substitution C G upstream_gene_variant BRCA-EU 10 46094838 46094838 single base substitution G A upstream_gene_variant BRCA-EU 10 46094940 46094940 single base substitution G A upstream_gene_variant BRCA-FR 10 45955334 45955334 single base substitution C T downstream_gene_variant BRCA-FR 10 45955334 45955334 single base substitution C T intron_variant BRCA-FR 10 45957613 45957613 single base substitution C T exon_variant BRCA-FR 10 45957613 45957613 single base substitution C T intron_variant BRCA-FR 10 45966304 45966304 single base substitution A T intron_variant BRCA-FR 10 45975490 45975490 single base substitution G A intron_variant BRCA-FR 10 45980721 45980721 single base substitution G A intron_variant BRCA-FR 10 45981902 45981902 single base substitution C G intron_variant BRCA-FR 10 46013712 46013712 single base substitution G A intron_variant BRCA-FR 10 46028609 46028609 single base substitution G A exon_variant BRCA-FR 10 46028609 46028609 single base substitution G A synonymous_variant I17I 51C>T BRCA-FR 10 46038083 46038083 single base substitution G C intron_variant BRCA-FR 10 46038354 46038354 single base substitution G C intron_variant BRCA-FR 10 46041098 46041098 single base substitution G A intron_variant BRCA-FR 10 46045776 46045776 single base substitution G C intron_variant BRCA-FR 10 46056500 46056500 single base substitution G C intron_variant BRCA-FR 10 46058158 46058158 single base substitution G C intron_variant BRCA-FR 10 46064153 46064153 single base substitution G C intron_variant BRCA-FR 10 46064399 46064399 single base substitution G A intron_variant BRCA-FR 10 46078648 46078648 single base substitution A G intron_variant BRCA-FR 10 46083626 46083626 single base substitution G C intron_variant BRCA-FR 10 46089067 46089067 single base substitution G C exon_variant BRCA-FR 10 46089067 46089067 single base substitution G C intron_variant BRCA-UK 10 45958182 45958182 single base substitution T C intron_variant BRCA-UK 10 45958182 45958182 single base substitution T C upstream_gene_variant BRCA-UK 10 46027459 46027459 single base substitution G A intron_variant BRCA-UK 10 46031444 46031444 single base substitution G C intron_variant BRCA-UK 10 46031444 46031444 single base substitution G C upstream_gene_variant BRCA-UK 10 46054809 46054809 single base substitution G A intron_variant BRCA-UK 10 46064986 46064986 deletion of <=200bp C - intron_variant BRCA-UK 10 46089725 46089725 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-UK 10 46089725 46089725 single base substitution G C exon_variant BRCA-UK 10 46092815 46092815 single base substitution A C upstream_gene_variant BRCA-US 10 45956741 45956741 single base substitution G A downstream_gene_variant BRCA-US 10 45956741 45956741 single base substitution G A exon_variant BRCA-US 10 45956741 45956741 single base substitution G A missense_variant R121C 361C>T BRCA-US 10 45956741 45956741 single base substitution G A missense_variant R403C 1207C>T BRCA-US 10 45956754 45956754 single base substitution C T downstream_gene_variant BRCA-US 10 45956754 45956754 single base substitution C T exon_variant BRCA-US 10 45956754 45956754 single base substitution C T synonymous_variant K116K 348G>A BRCA-US 10 45956754 45956754 single base substitution C T synonymous_variant K398K 1194G>A BTCA-JP 10 45954558 45954558 single base substitution G A downstream_gene_variant BTCA-JP 10 45954558 45954558 single base substitution G A intron_variant BTCA-JP 10 45959146 45959146 single base substitution C T intron_variant BTCA-JP 10 45959146 45959146 single base substitution C T missense_variant E181K 541G>A BTCA-JP 10 45959146 45959146 single base substitution C T upstream_gene_variant BTCA-JP 10 45959289 45959289 single base substitution C A intron_variant BTCA-JP 10 45959289 45959289 single base substitution C A missense_variant G133V 398G>T BTCA-JP 10 45959289 45959289 single base substitution C A upstream_gene_variant BTCA-JP 10 46028669 46028669 single base substitution T G 5_prime_UTR_variant BTCA-JP 10 46028669 46028669 single base substitution T G exon_variant CLLE-ES 10 45970293 45970293 single base substitution T A intron_variant CLLE-ES 10 45973487 45973487 single base substitution T G intron_variant CLLE-ES 10 45981137 45981137 single base substitution A T intron_variant CLLE-ES 10 46001296 46001296 single base substitution T C intron_variant CLLE-ES 10 46005765 46005765 single base substitution C G intron_variant CLLE-ES 10 46037726 46037726 single base substitution C T intron_variant CLLE-ES 10 46066037 46066041 deletion of <=200bp ATTAT - intron_variant CLLE-ES 10 46079582 46079582 single base substitution T C intron_variant COAD-US 10 45954652 45954652 single base substitution C T downstream_gene_variant COAD-US 10 45954652 45954652 single base substitution C T exon_variant COAD-US 10 45954652 45954652 single base substitution C T missense_variant V163I 487G>A COAD-US 10 45954652 45954652 single base substitution C T missense_variant V445I 1333G>A COAD-US 10 46028655 46028655 single base substitution C T exon_variant COAD-US 10 46028655 46028655 single base substitution C T missense_variant S2N 5G>A COCA-CN 10 45971927 45971927 single base substitution A G intron_variant COCA-CN 10 45987745 45987745 single base substitution C T intron_variant COCA-CN 10 45987751 45987751 single base substitution T C intron_variant COCA-CN 10 45991251 45991251 single base substitution T G intron_variant COCA-CN 10 46004209 46004209 single base substitution G A intron_variant COCA-CN 10 46038944 46038944 single base substitution T G intron_variant COCA-CN 10 46041714 46041714 single base substitution T C intron_variant COCA-CN 10 46041734 46041734 single base substitution G A intron_variant COCA-CN 10 46060689 46060689 single base substitution G A intron_variant COCA-CN 10 46067660 46067660 single base substitution G A intron_variant COCA-CN 10 46069475 46069475 single base substitution T C intron_variant COCA-CN 10 46094076 46094076 single base substitution G A upstream_gene_variant COCA-CN 10 46094211 46094211 single base substitution T G upstream_gene_variant EOPC-DE 10 45986610 45986610 single base substitution G C intron_variant EOPC-DE 10 46069103 46069103 single base substitution T C intron_variant EOPC-DE 10 46077473 46077473 single base substitution C T intron_variant EOPC-DE 10 46080689 46080689 single base substitution T C intron_variant ESAD-UK 10 45949745 45949745 single base substitution G A downstream_gene_variant ESAD-UK 10 45949858 45949858 single base substitution G A downstream_gene_variant ESAD-UK 10 45951430 45951430 single base substitution C T 3_prime_UTR_variant ESAD-UK 10 45951430 45951430 single base substitution C T downstream_gene_variant ESAD-UK 10 45952051 45952051 single base substitution G A 3_prime_UTR_variant ESAD-UK 10 45952051 45952051 single base substitution G A downstream_gene_variant ESAD-UK 10 45954286 45954286 single base substitution C T downstream_gene_variant ESAD-UK 10 45954286 45954286 single base substitution C T intron_variant ESAD-UK 10 45954722 45954722 single base substitution A C downstream_gene_variant ESAD-UK 10 45954722 45954722 single base substitution A C splice_region_variant ESAD-UK 10 45955504 45955504 single base substitution C T downstream_gene_variant ESAD-UK 10 45955504 45955504 single base substitution C T intron_variant ESAD-UK 10 45956188 45956188 single base substitution G A downstream_gene_variant ESAD-UK 10 45956188 45956188 single base substitution G A intron_variant ESAD-UK 10 45957006 45957006 single base substitution G A exon_variant ESAD-UK 10 45957006 45957006 single base substitution G A intron_variant ESAD-UK 10 45958366 45958366 single base substitution G A intron_variant ESAD-UK 10 45958366 45958366 single base substitution G A upstream_gene_variant ESAD-UK 10 45960070 45960070 single base substitution T C intron_variant ESAD-UK 10 45960070 45960070 single base substitution T C upstream_gene_variant ESAD-UK 10 45960781 45960781 single base substitution C A intron_variant ESAD-UK 10 45960781 45960781 single base substitution C A upstream_gene_variant ESAD-UK 10 45962453 45962453 single base substitution T G intron_variant ESAD-UK 10 45962453 45962453 single base substitution T G upstream_gene_variant ESAD-UK 10 45965815 45965815 single base substitution T C intron_variant ESAD-UK 10 45968865 45968865 single base substitution T C intron_variant ESAD-UK 10 45969501 45969501 single base substitution C T intron_variant ESAD-UK 10 45969900 45969900 deletion of <=200bp C - intron_variant ESAD-UK 10 45972889 45972889 insertion of <=200bp - T intron_variant ESAD-UK 10 45973853 45973853 single base substitution A C intron_variant ESAD-UK 10 45974028 45974028 single base substitution A G intron_variant ESAD-UK 10 45974167 45974167 single base substitution A G intron_variant ESAD-UK 10 45980139 45980139 single base substitution G C intron_variant ESAD-UK 10 45981665 45981665 single base substitution C T intron_variant ESAD-UK 10 45981701 45981707 deletion of <=200bp ACAGCAC - intron_variant ESAD-UK 10 45982639 45982639 single base substitution C T intron_variant ESAD-UK 10 45984042 45984042 single base substitution C T intron_variant ESAD-UK 10 45985170 45985170 single base substitution A C intron_variant ESAD-UK 10 45985844 45985844 single base substitution A C intron_variant ESAD-UK 10 45987001 45987001 deletion of <=200bp A - intron_variant ESAD-UK 10 45987187 45987187 single base substitution C T intron_variant ESAD-UK 10 45988139 45988139 single base substitution T G intron_variant ESAD-UK 10 45989304 45989304 single base substitution T C intron_variant ESAD-UK 10 45989588 45989588 single base substitution C A intron_variant ESAD-UK 10 45991915 45991915 deletion of <=200bp T - intron_variant ESAD-UK 10 45993867 45993867 single base substitution G A intron_variant ESAD-UK 10 45994086 45994086 single base substitution G C intron_variant ESAD-UK 10 45994582 45994582 single base substitution C T intron_variant ESAD-UK 10 45995251 45995251 single base substitution T C intron_variant ESAD-UK 10 45995272 45995272 single base substitution T A intron_variant ESAD-UK 10 45996061 45996061 single base substitution G T intron_variant ESAD-UK 10 45996106 45996106 single base substitution A C intron_variant ESAD-UK 10 45996108 45996108 single base substitution T G intron_variant ESAD-UK 10 45996930 45996930 single base substitution T G intron_variant ESAD-UK 10 45996955 45996955 single base substitution T G intron_variant ESAD-UK 10 45997414 45997414 single base substitution A T intron_variant ESAD-UK 10 45997423 45997423 single base substitution T A intron_variant ESAD-UK 10 45997707 45997707 single base substitution C T intron_variant ESAD-UK 10 45997708 45997708 single base substitution C A intron_variant ESAD-UK 10 45997956 45997956 single base substitution C G intron_variant ESAD-UK 10 45999237 45999237 single base substitution C T intron_variant ESAD-UK 10 46000516 46000516 single base substitution G A intron_variant ESAD-UK 10 46000973 46000973 single base substitution T G intron_variant ESAD-UK 10 46004624 46004624 single base substitution T C intron_variant ESAD-UK 10 46009044 46009044 single base substitution T C intron_variant ESAD-UK 10 46009095 46009095 single base substitution A G intron_variant ESAD-UK 10 46010243 46010243 single base substitution T A intron_variant ESAD-UK 10 46010304 46010304 deletion of <=200bp T - intron_variant ESAD-UK 10 46010412 46010412 single base substitution C G intron_variant ESAD-UK 10 46013115 46013115 single base substitution A T intron_variant ESAD-UK 10 46013847 46013847 single base substitution C T intron_variant ESAD-UK 10 46014036 46014036 single base substitution C T intron_variant ESAD-UK 10 46014060 46014060 single base substitution T C intron_variant ESAD-UK 10 46017781 46017781 single base substitution T G intron_variant ESAD-UK 10 46017951 46017951 single base substitution T G intron_variant ESAD-UK 10 46019709 46019709 single base substitution A C intron_variant ESAD-UK 10 46020062 46020062 single base substitution C T intron_variant ESAD-UK 10 46020514 46020514 single base substitution T A intron_variant ESAD-UK 10 46022184 46022184 single base substitution C A intron_variant ESAD-UK 10 46022301 46022301 single base substitution A T intron_variant ESAD-UK 10 46023186 46023186 single base substitution A C intron_variant ESAD-UK 10 46026549 46026549 single base substitution A C intron_variant ESAD-UK 10 46026991 46026991 single base substitution G A intron_variant ESAD-UK 10 46030292 46030292 single base substitution C T intron_variant ESAD-UK 10 46030358 46030358 single base substitution C G intron_variant ESAD-UK 10 46031040 46031040 single base substitution G T intron_variant ESAD-UK 10 46031040 46031040 single base substitution G T upstream_gene_variant ESAD-UK 10 46032181 46032181 single base substitution C T intron_variant ESAD-UK 10 46032181 46032181 single base substitution C T upstream_gene_variant ESAD-UK 10 46036396 46036396 single base substitution G C intron_variant ESAD-UK 10 46037210 46037210 single base substitution G A intron_variant ESAD-UK 10 46037965 46037965 single base substitution C T intron_variant ESAD-UK 10 46040896 46040896 single base substitution C T intron_variant ESAD-UK 10 46042902 46042902 insertion of <=200bp - A intron_variant ESAD-UK 10 46045700 46045700 single base substitution A T intron_variant ESAD-UK 10 46046028 46046028 single base substitution A C intron_variant ESAD-UK 10 46050428 46050428 single base substitution G A intron_variant ESAD-UK 10 46050537 46050537 single base substitution C T intron_variant ESAD-UK 10 46051402 46051402 single base substitution T A intron_variant ESAD-UK 10 46053386 46053386 deletion of <=200bp A - intron_variant ESAD-UK 10 46054822 46054822 insertion of <=200bp - T intron_variant ESAD-UK 10 46055726 46055726 single base substitution G A intron_variant ESAD-UK 10 46056012 46056012 single base substitution G T intron_variant ESAD-UK 10 46056351 46056351 insertion of <=200bp - A intron_variant ESAD-UK 10 46058090 46058090 deletion of <=200bp T - intron_variant ESAD-UK 10 46059313 46059313 single base substitution A C intron_variant ESAD-UK 10 46060205 46060205 single base substitution A G intron_variant ESAD-UK 10 46060646 46060646 single base substitution A C intron_variant ESAD-UK 10 46061439 46061439 single base substitution T A intron_variant ESAD-UK 10 46062022 46062022 single base substitution C A intron_variant ESAD-UK 10 46062705 46062705 single base substitution C T intron_variant ESAD-UK 10 46065714 46065714 single base substitution A G intron_variant ESAD-UK 10 46065974 46065974 single base substitution T C intron_variant ESAD-UK 10 46066201 46066201 single base substitution A C intron_variant ESAD-UK 10 46068406 46068406 single base substitution A T intron_variant ESAD-UK 10 46068622 46068622 single base substitution G A intron_variant ESAD-UK 10 46069105 46069105 single base substitution T A intron_variant ESAD-UK 10 46069105 46069105 single base substitution T C intron_variant ESAD-UK 10 46069187 46069187 single base substitution T G intron_variant ESAD-UK 10 46071275 46071275 single base substitution A C intron_variant ESAD-UK 10 46074272 46074272 single base substitution G C intron_variant ESAD-UK 10 46075329 46075329 single base substitution G A intron_variant ESAD-UK 10 46076314 46076314 insertion of <=200bp - A intron_variant ESAD-UK 10 46079718 46079718 single base substitution T A intron_variant ESAD-UK 10 46080432 46080432 single base substitution A G intron_variant ESAD-UK 10 46081131 46081131 single base substitution C T intron_variant ESAD-UK 10 46082005 46082005 single base substitution A G intron_variant ESAD-UK 10 46082489 46082489 single base substitution A G intron_variant ESAD-UK 10 46082844 46082844 single base substitution C A intron_variant ESAD-UK 10 46082985 46082985 single base substitution T C intron_variant ESAD-UK 10 46083435 46083435 single base substitution A G intron_variant ESAD-UK 10 46084671 46084671 single base substitution C T downstream_gene_variant ESAD-UK 10 46084671 46084671 single base substitution C T intron_variant ESAD-UK 10 46085434 46085434 single base substitution C A downstream_gene_variant ESAD-UK 10 46085434 46085434 single base substitution C A intron_variant ESAD-UK 10 46085968 46085968 single base substitution G A downstream_gene_variant ESAD-UK 10 46085968 46085968 single base substitution G A intron_variant ESAD-UK 10 46086124 46086124 single base substitution G A downstream_gene_variant ESAD-UK 10 46086124 46086124 single base substitution G A intron_variant ESAD-UK 10 46087920 46087920 single base substitution A G downstream_gene_variant ESAD-UK 10 46087920 46087920 single base substitution A G intron_variant ESAD-UK 10 46090666 46090666 single base substitution T C upstream_gene_variant ESAD-UK 10 46092153 46092153 single base substitution G C upstream_gene_variant ESAD-UK 10 46093171 46093171 single base substitution C T upstream_gene_variant ESAD-UK 10 46093875 46093875 single base substitution G A upstream_gene_variant ESCA-CN 10 45953939 45953939 single base substitution G A downstream_gene_variant ESCA-CN 10 45953939 45953939 single base substitution G A exon_variant ESCA-CN 10 45953939 45953939 single base substitution G A synonymous_variant F208F 624C>T ESCA-CN 10 45953939 45953939 single base substitution G A synonymous_variant F490F 1470C>T ESCA-CN 10 45956807 45956807 single base substitution A T downstream_gene_variant ESCA-CN 10 45956807 45956807 single base substitution A T exon_variant ESCA-CN 10 45956807 45956807 single base substitution A T missense_variant C381S 1141T>A ESCA-CN 10 45956807 45956807 single base substitution A T missense_variant C99S 295T>A ESCA-CN 10 45984866 45984866 single base substitution C G splice_acceptor_variant KIRC-US 10 45959707 45959707 single base substitution T A exon_variant KIRC-US 10 45959707 45959707 single base substitution T A synonymous_variant P74P 222A>T KIRC-US 10 45959707 45959707 single base substitution T A upstream_gene_variant LAML-KR 10 45956828 45956828 single base substitution G A downstream_gene_variant LAML-KR 10 45956828 45956828 single base substitution G A exon_variant LAML-KR 10 45956828 45956828 single base substitution G A missense_variant P374S 1120C>T LAML-KR 10 45956828 45956828 single base substitution G A missense_variant P92S 274C>T LAML-KR 10 46007280 46007280 single base substitution C T intron_variant LAML-KR 10 46007896 46007896 single base substitution A G intron_variant LICA-CN 10 45958969 45958969 single base substitution C A intron_variant LICA-CN 10 45958969 45958969 single base substitution C A missense_variant G240C 718G>T LICA-CN 10 45958969 45958969 single base substitution C A upstream_gene_variant LICA-FR 10 45952600 45952600 single base substitution C T 3_prime_UTR_variant LICA-FR 10 45952600 45952600 single base substitution C T downstream_gene_variant LICA-FR 10 45956820 45956820 single base substitution G A downstream_gene_variant LICA-FR 10 45956820 45956820 single base substitution G A exon_variant LICA-FR 10 45956820 45956820 single base substitution G A synonymous_variant I376I 1128C>T LICA-FR 10 45956820 45956820 single base substitution G A synonymous_variant I94I 282C>T LICA-FR 10 45959138 45959138 single base substitution T C intron_variant LICA-FR 10 45959138 45959138 single base substitution T C synonymous_variant K183K 549A>G LICA-FR 10 45959138 45959138 single base substitution T C upstream_gene_variant LICA-FR 10 45986779 45986792 deletion of <=200bp AGTTTGAGACCCGC - intron_variant LICA-FR 10 46003374 46003374 single base substitution A G intron_variant LINC-JP 10 45956675 45956675 single base substitution G A downstream_gene_variant LINC-JP 10 45956675 45956675 single base substitution G A exon_variant LINC-JP 10 45956675 45956675 single base substitution G A intron_variant LINC-JP 10 45956675 45956675 single base substitution G A splice_region_variant LINC-JP 10 45959715 45959715 single base substitution T C exon_variant LINC-JP 10 45959715 45959715 single base substitution T C missense_variant I72V 214A>G LINC-JP 10 45959715 45959715 single base substitution T C upstream_gene_variant LINC-JP 10 45993294 45993294 single base substitution C G intron_variant LINC-JP 10 46009106 46009106 single base substitution T C intron_variant LINC-JP 10 46028669 46028669 single base substitution T G 5_prime_UTR_variant LINC-JP 10 46028669 46028669 single base substitution T G exon_variant LINC-JP 10 46033111 46033111 single base substitution A G intron_variant LINC-JP 10 46033111 46033111 single base substitution A G upstream_gene_variant LINC-JP 10 46039684 46039684 single base substitution T C intron_variant LINC-JP 10 46061631 46061631 single base substitution A G intron_variant LINC-JP 10 46088549 46088549 single base substitution T A downstream_gene_variant LINC-JP 10 46088549 46088549 single base substitution T A intron_variant LINC-JP 10 46094377 46094377 single base substitution G T upstream_gene_variant LINC-JP 10 46094417 46094417 single base substitution G T upstream_gene_variant LIRI-JP 10 45947494 45947494 single base substitution T C downstream_gene_variant LIRI-JP 10 45949800 45949800 single base substitution A C downstream_gene_variant LIRI-JP 10 45951148 45951148 single base substitution G T 3_prime_UTR_variant LIRI-JP 10 45951148 45951148 single base substitution G T downstream_gene_variant LIRI-JP 10 45951300 45951300 single base substitution A T 3_prime_UTR_variant LIRI-JP 10 45951300 45951300 single base substitution A T downstream_gene_variant LIRI-JP 10 45951620 45951620 single base substitution T A 3_prime_UTR_variant LIRI-JP 10 45951620 45951620 single base substitution T A downstream_gene_variant LIRI-JP 10 45951792 45951792 single base substitution T C 3_prime_UTR_variant LIRI-JP 10 45951792 45951792 single base substitution T C downstream_gene_variant LIRI-JP 10 45954535 45954535 single base substitution C T downstream_gene_variant LIRI-JP 10 45954535 45954535 single base substitution C T intron_variant LIRI-JP 10 45956117 45956117 single base substitution G C downstream_gene_variant LIRI-JP 10 45956117 45956117 single base substitution G C intron_variant LIRI-JP 10 45956192 45956192 single base substitution C A downstream_gene_variant LIRI-JP 10 45956192 45956192 single base substitution C A intron_variant LIRI-JP 10 45959437 45959437 single base substitution C A intron_variant LIRI-JP 10 45959437 45959437 single base substitution C A missense_variant A84S 250G>T LIRI-JP 10 45959437 45959437 single base substitution C A upstream_gene_variant LIRI-JP 10 45960817 45960817 single base substitution C A intron_variant LIRI-JP 10 45960817 45960817 single base substitution C A upstream_gene_variant LIRI-JP 10 45961325 45961325 single base substitution T G intron_variant LIRI-JP 10 45961325 45961325 single base substitution T G upstream_gene_variant LIRI-JP 10 45963503 45963503 single base substitution T G intron_variant LIRI-JP 10 45964459 45964459 single base substitution T G intron_variant LIRI-JP 10 45965759 45965759 single base substitution A G intron_variant LIRI-JP 10 45967623 45967623 single base substitution C A intron_variant LIRI-JP 10 45968110 45968110 single base substitution G T intron_variant LIRI-JP 10 45968111 45968111 single base substitution G C intron_variant LIRI-JP 10 45970424 45970424 single base substitution C A intron_variant LIRI-JP 10 45970425 45970425 single base substitution C A intron_variant LIRI-JP 10 45972631 45972631 single base substitution T C intron_variant LIRI-JP 10 45972768 45972768 single base substitution C T intron_variant LIRI-JP 10 45974225 45974225 single base substitution G T intron_variant LIRI-JP 10 45975640 45975640 single base substitution A T intron_variant LIRI-JP 10 45976050 45976050 single base substitution T C intron_variant LIRI-JP 10 45978167 45978167 single base substitution C A intron_variant LIRI-JP 10 45980915 45980915 single base substitution T C intron_variant LIRI-JP 10 45981631 45981631 single base substitution C A intron_variant LIRI-JP 10 45984583 45984583 single base substitution T C intron_variant LIRI-JP 10 45986457 45986457 single base substitution T C intron_variant LIRI-JP 10 45992750 45992750 single base substitution A T intron_variant LIRI-JP 10 45993355 45993355 single base substitution T C intron_variant LIRI-JP 10 46002092 46002092 single base substitution T A intron_variant LIRI-JP 10 46002321 46002321 single base substitution T C intron_variant LIRI-JP 10 46004180 46004180 single base substitution T C intron_variant LIRI-JP 10 46004328 46004328 single base substitution G C intron_variant LIRI-JP 10 46005765 46005765 single base substitution C G intron_variant LIRI-JP 10 46006270 46006270 single base substitution T C intron_variant LIRI-JP 10 46006745 46006745 single base substitution G A intron_variant LIRI-JP 10 46009626 46009631 deletion of <=200bp AAATTA - intron_variant LIRI-JP 10 46014729 46014729 single base substitution G C intron_variant LIRI-JP 10 46016939 46016939 single base substitution A C intron_variant LIRI-JP 10 46017453 46017453 single base substitution T G intron_variant LIRI-JP 10 46019158 46019158 single base substitution A G intron_variant LIRI-JP 10 46019167 46019167 single base substitution T C intron_variant LIRI-JP 10 46019254 46019254 single base substitution T C intron_variant LIRI-JP 10 46022306 46022306 single base substitution G A intron_variant LIRI-JP 10 46023144 46023144 single base substitution G A intron_variant LIRI-JP 10 46026343 46026343 single base substitution T C intron_variant LIRI-JP 10 46029321 46029321 single base substitution T C intron_variant LIRI-JP 10 46030671 46030671 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 10 46030671 46030671 single base substitution T A intron_variant LIRI-JP 10 46030756 46030756 single base substitution A G 5_prime_UTR_variant LIRI-JP 10 46030756 46030756 single base substitution A G intron_variant LIRI-JP 10 46031332 46031332 single base substitution T C intron_variant LIRI-JP 10 46031332 46031332 single base substitution T C upstream_gene_variant LIRI-JP 10 46031987 46031987 single base substitution C T intron_variant LIRI-JP 10 46031987 46031987 single base substitution C T upstream_gene_variant LIRI-JP 10 46033291 46033291 single base substitution T C intron_variant LIRI-JP 10 46033291 46033291 single base substitution T C upstream_gene_variant LIRI-JP 10 46035734 46035734 single base substitution C G intron_variant LIRI-JP 10 46035734 46035734 single base substitution C G upstream_gene_variant LIRI-JP 10 46036098 46036098 single base substitution A G intron_variant LIRI-JP 10 46036590 46036590 single base substitution T A intron_variant LIRI-JP 10 46037195 46037195 single base substitution A G intron_variant LIRI-JP 10 46037240 46037240 single base substitution T G intron_variant LIRI-JP 10 46037712 46037712 single base substitution G T intron_variant LIRI-JP 10 46039469 46039469 single base substitution T C intron_variant LIRI-JP 10 46044181 46044181 single base substitution T C intron_variant LIRI-JP 10 46044659 46044659 single base substitution C T intron_variant LIRI-JP 10 46046339 46046339 single base substitution T C intron_variant LIRI-JP 10 46052882 46052882 single base substitution G C intron_variant LIRI-JP 10 46053836 46053836 single base substitution C T intron_variant LIRI-JP 10 46054724 46054724 single base substitution T C intron_variant LIRI-JP 10 46056243 46056243 single base substitution A G intron_variant LIRI-JP 10 46057547 46057547 single base substitution T C intron_variant LIRI-JP 10 46057843 46057843 single base substitution C T intron_variant LIRI-JP 10 46058088 46058088 single base substitution T C intron_variant LIRI-JP 10 46058575 46058575 single base substitution A G intron_variant LIRI-JP 10 46059710 46059710 single base substitution A C intron_variant LIRI-JP 10 46062554 46062554 single base substitution C T intron_variant LIRI-JP 10 46062862 46062862 single base substitution T A intron_variant LIRI-JP 10 46062886 46062886 single base substitution A C intron_variant LIRI-JP 10 46062933 46062933 single base substitution T G intron_variant LIRI-JP 10 46064937 46064937 single base substitution C T intron_variant LIRI-JP 10 46065364 46065364 single base substitution A G intron_variant LIRI-JP 10 46065599 46065599 single base substitution T G intron_variant LIRI-JP 10 46065991 46065991 single base substitution C A intron_variant LIRI-JP 10 46066011 46066011 single base substitution T C intron_variant LIRI-JP 10 46066102 46066102 single base substitution T C intron_variant LIRI-JP 10 46071403 46071403 single base substitution A G intron_variant LIRI-JP 10 46071451 46071451 single base substitution A T intron_variant LIRI-JP 10 46072192 46072192 single base substitution A T intron_variant LIRI-JP 10 46072760 46072760 single base substitution G C intron_variant LIRI-JP 10 46073068 46073068 single base substitution C T intron_variant LIRI-JP 10 46076809 46076809 single base substitution G A intron_variant LIRI-JP 10 46076845 46076845 insertion of <=200bp - GT intron_variant LIRI-JP 10 46078881 46078881 single base substitution T A intron_variant LIRI-JP 10 46081714 46081714 single base substitution T A intron_variant LIRI-JP 10 46082799 46082799 single base substitution G C intron_variant LIRI-JP 10 46085280 46085280 single base substitution G T downstream_gene_variant LIRI-JP 10 46085280 46085280 single base substitution G T intron_variant LIRI-JP 10 46087162 46087163 deletion of <=200bp AA - downstream_gene_variant LIRI-JP 10 46087162 46087163 deletion of <=200bp AA - intron_variant LIRI-JP 10 46089635 46089635 single base substitution G A intron_variant LIRI-JP 10 46092061 46092061 single base substitution C T upstream_gene_variant LIRI-JP 10 46094620 46094620 single base substitution C G upstream_gene_variant LIRI-JP 10 46094762 46094762 single base substitution T C upstream_gene_variant LUSC-KR 10 45948696 45948696 single base substitution T A downstream_gene_variant LUSC-KR 10 45952929 45952929 single base substitution T C 3_prime_UTR_variant LUSC-KR 10 45952929 45952929 single base substitution T C downstream_gene_variant LUSC-KR 10 45955699 45955699 single base substitution C T downstream_gene_variant LUSC-KR 10 45955699 45955699 single base substitution C T intron_variant LUSC-KR 10 45956828 45956828 single base substitution G A downstream_gene_variant LUSC-KR 10 45956828 45956828 single base substitution G A exon_variant LUSC-KR 10 45956828 45956828 single base substitution G A missense_variant P374S 1120C>T LUSC-KR 10 45956828 45956828 single base substitution G A missense_variant P92S 274C>T LUSC-KR 10 45957345 45957345 single base substitution C A exon_variant LUSC-KR 10 45957345 45957345 single base substitution C A intron_variant LUSC-KR 10 45963874 45963874 single base substitution C A intron_variant LUSC-KR 10 45964940 45964940 single base substitution C G intron_variant LUSC-KR 10 45967052 45967052 single base substitution C T intron_variant LUSC-KR 10 45968648 45968648 single base substitution T C intron_variant LUSC-KR 10 45969794 45969794 single base substitution C A intron_variant LUSC-KR 10 45971843 45971843 single base substitution C A intron_variant LUSC-KR 10 45974479 45974479 single base substitution C A intron_variant LUSC-KR 10 45974904 45974904 single base substitution G A intron_variant LUSC-KR 10 45976948 45976948 single base substitution G A intron_variant LUSC-KR 10 45985002 45985002 single base substitution G C intron_variant LUSC-KR 10 45987365 45987365 single base substitution A G intron_variant LUSC-KR 10 45993844 45993844 single base substitution C T intron_variant LUSC-KR 10 45998090 45998090 single base substitution T A intron_variant LUSC-KR 10 45999059 45999059 single base substitution C T intron_variant LUSC-KR 10 46002537 46002537 single base substitution C A intron_variant LUSC-KR 10 46005595 46005595 single base substitution T C intron_variant LUSC-KR 10 46005652 46005652 single base substitution C A intron_variant LUSC-KR 10 46006930 46006930 single base substitution C G intron_variant LUSC-KR 10 46008197 46008197 single base substitution C T intron_variant LUSC-KR 10 46009820 46009820 single base substitution C G intron_variant LUSC-KR 10 46010558 46010558 single base substitution G A intron_variant LUSC-KR 10 46015029 46015029 single base substitution T A intron_variant LUSC-KR 10 46019593 46019593 single base substitution G A intron_variant LUSC-KR 10 46021011 46021011 single base substitution T C intron_variant LUSC-KR 10 46026861 46026861 single base substitution C A intron_variant LUSC-KR 10 46030643 46030643 single base substitution A G intron_variant LUSC-KR 10 46039382 46039382 single base substitution C A intron_variant LUSC-KR 10 46039430 46039430 single base substitution C A intron_variant LUSC-KR 10 46041757 46041757 single base substitution C A intron_variant LUSC-KR 10 46043102 46043102 single base substitution G T intron_variant LUSC-KR 10 46043526 46043526 single base substitution T C intron_variant LUSC-KR 10 46043880 46043880 single base substitution C A intron_variant LUSC-KR 10 46046447 46046447 single base substitution G A intron_variant LUSC-KR 10 46046642 46046642 single base substitution C A intron_variant LUSC-KR 10 46051186 46051186 single base substitution T A intron_variant LUSC-KR 10 46051553 46051553 single base substitution A G intron_variant LUSC-KR 10 46053600 46053600 single base substitution G C intron_variant LUSC-KR 10 46054207 46054207 single base substitution C A intron_variant LUSC-KR 10 46056594 46056594 single base substitution G A intron_variant LUSC-KR 10 46056757 46056757 single base substitution C A intron_variant LUSC-KR 10 46066878 46066878 single base substitution C G intron_variant LUSC-KR 10 46067011 46067011 single base substitution G C intron_variant LUSC-KR 10 46077254 46077254 single base substitution G A intron_variant LUSC-KR 10 46080541 46080541 single base substitution G A intron_variant LUSC-KR 10 46081041 46081041 single base substitution C A intron_variant LUSC-KR 10 46083709 46083709 single base substitution A G intron_variant LUSC-KR 10 46083936 46083936 single base substitution T C downstream_gene_variant LUSC-KR 10 46083936 46083936 single base substitution T C intron_variant LUSC-KR 10 46087542 46087542 single base substitution C T downstream_gene_variant LUSC-KR 10 46087542 46087542 single base substitution C T intron_variant LUSC-KR 10 46089776 46089776 single base substitution C T 5_prime_UTR_variant LUSC-KR 10 46089776 46089776 single base substitution C T exon_variant LUSC-US 10 45953836 45953836 single base substitution C A downstream_gene_variant LUSC-US 10 45953836 45953836 single base substitution C A exon_variant LUSC-US 10 45953836 45953836 single base substitution C A stop_gained E243* 727G>T LUSC-US 10 45953836 45953836 single base substitution C A stop_gained E525* 1573G>T LUSC-US 10 45959739 45959739 single base substitution C T exon_variant LUSC-US 10 45959739 45959739 single base substitution C T missense_variant V64M 190G>A LUSC-US 10 45959739 45959739 single base substitution C T upstream_gene_variant MALY-DE 10 45953978 45953978 single base substitution C G downstream_gene_variant MALY-DE 10 45953978 45953978 single base substitution C G exon_variant MALY-DE 10 45953978 45953978 single base substitution C G missense_variant W195C 585G>C MALY-DE 10 45953978 45953978 single base substitution C G missense_variant W477C 1431G>C MALY-DE 10 45958050 45958050 single base substitution G A intron_variant MALY-DE 10 45958050 45958050 single base substitution G A upstream_gene_variant MALY-DE 10 45963851 45963851 single base substitution C T intron_variant MALY-DE 10 45965959 45965959 single base substitution C T intron_variant MALY-DE 10 45968122 45968122 single base substitution A C intron_variant MALY-DE 10 45975443 45975443 single base substitution C G intron_variant MALY-DE 10 46005319 46005319 single base substitution C T intron_variant MALY-DE 10 46010285 46010285 single base substitution C G intron_variant MALY-DE 10 46017053 46017053 single base substitution A G intron_variant MALY-DE 10 46024937 46024937 single base substitution A G intron_variant MALY-DE 10 46032284 46032284 insertion of <=200bp - AAT intron_variant MALY-DE 10 46032284 46032284 insertion of <=200bp - AAT upstream_gene_variant MALY-DE 10 46046260 46046260 single base substitution T C intron_variant MALY-DE 10 46047289 46047290 deletion of <=200bp AC - intron_variant MALY-DE 10 46052098 46052098 single base substitution C T intron_variant MALY-DE 10 46058097 46058097 single base substitution T A intron_variant MALY-DE 10 46060201 46060201 single base substitution A G intron_variant MALY-DE 10 46060479 46060479 single base substitution A G intron_variant MALY-DE 10 46060505 46060505 single base substitution A G intron_variant MALY-DE 10 46060553 46060553 single base substitution A T intron_variant MALY-DE 10 46065328 46065328 single base substitution T A intron_variant MALY-DE 10 46077134 46077134 single base substitution A C intron_variant MALY-DE 10 46084391 46084392 deletion of <=200bp GA - downstream_gene_variant MALY-DE 10 46084391 46084392 deletion of <=200bp GA - intron_variant MALY-DE 10 46090708 46090708 single base substitution A G upstream_gene_variant MALY-DE 10 46094639 46094639 single base substitution G A upstream_gene_variant MELA-AU 10 45945408 45945408 single base substitution G A downstream_gene_variant MELA-AU 10 45945914 45945914 single base substitution G A downstream_gene_variant MELA-AU 10 45945956 45945956 single base substitution C T downstream_gene_variant MELA-AU 10 45945994 45945994 single base substitution G A downstream_gene_variant MELA-AU 10 45946402 45946402 single base substitution G A downstream_gene_variant MELA-AU 10 45947002 45947002 single base substitution T G downstream_gene_variant MELA-AU 10 45947180 45947180 single base substitution G A downstream_gene_variant MELA-AU 10 45947207 45947207 single base substitution G A downstream_gene_variant MELA-AU 10 45947355 45947355 single base substitution G A downstream_gene_variant MELA-AU 10 45947371 45947371 single base substitution A G downstream_gene_variant MELA-AU 10 45948032 45948032 single base substitution A G downstream_gene_variant MELA-AU 10 45948091 45948091 single base substitution C A downstream_gene_variant MELA-AU 10 45948231 45948231 single base substitution G A downstream_gene_variant MELA-AU 10 45949216 45949216 single base substitution G A downstream_gene_variant MELA-AU 10 45949336 45949341 deletion of <=200bp CTGTGA - downstream_gene_variant MELA-AU 10 45949703 45949703 single base substitution G A downstream_gene_variant MELA-AU 10 45949898 45949898 single base substitution G A downstream_gene_variant MELA-AU 10 45949957 45949957 single base substitution G A downstream_gene_variant MELA-AU 10 45949962 45949962 single base substitution G A downstream_gene_variant MELA-AU 10 45950092 45950092 single base substitution C T 3_prime_UTR_variant MELA-AU 10 45950092 45950092 single base substitution C T downstream_gene_variant MELA-AU 10 45950375 45950375 single base substitution C T 3_prime_UTR_variant MELA-AU 10 45950375 45950375 single base substitution C T downstream_gene_variant MELA-AU 10 45950747 45950747 single base substitution G A 3_prime_UTR_variant MELA-AU 10 45950747 45950747 single base substitution G A downstream_gene_variant MELA-AU 10 45950797 45950797 single base substitution A G 3_prime_UTR_variant MELA-AU 10 45950797 45950797 single base substitution A G downstream_gene_variant MELA-AU 10 45950849 45950849 single base substitution G A 3_prime_UTR_variant MELA-AU 10 45950849 45950849 single base substitution G A downstream_gene_variant MELA-AU 10 45951236 45951236 single base substitution G A 3_prime_UTR_variant MELA-AU 10 45951236 45951236 single base substitution G A downstream_gene_variant MELA-AU 10 45951347 45951347 single base substitution G A 3_prime_UTR_variant MELA-AU 10 45951347 45951347 single base substitution G A downstream_gene_variant MELA-AU 10 45951415 45951415 single base substitution C T 3_prime_UTR_variant MELA-AU 10 45951415 45951415 single base substitution C T downstream_gene_variant MELA-AU 10 45951654 45951654 single base substitution G A 3_prime_UTR_variant MELA-AU 10 45951654 45951654 single base substitution G A downstream_gene_variant MELA-AU 10 45952364 45952364 single base substitution G A 3_prime_UTR_variant MELA-AU 10 45952364 45952364 single base substitution G A downstream_gene_variant MELA-AU 10 45952514 45952514 single base substitution G A 3_prime_UTR_variant MELA-AU 10 45952514 45952514 single base substitution G A downstream_gene_variant MELA-AU 10 45952606 45952606 single base substitution G A 3_prime_UTR_variant MELA-AU 10 45952606 45952606 single base substitution G A downstream_gene_variant MELA-AU 10 45952724 45952724 single base substitution G A 3_prime_UTR_variant MELA-AU 10 45952724 45952724 single base substitution G A downstream_gene_variant MELA-AU 10 45952777 45952777 single base substitution G A 3_prime_UTR_variant MELA-AU 10 45952777 45952777 single base substitution G A downstream_gene_variant MELA-AU 10 45953423 45953423 single base substitution G A 3_prime_UTR_variant MELA-AU 10 45953423 45953423 single base substitution G A downstream_gene_variant MELA-AU 10 45953423 45953423 single base substitution G A exon_variant MELA-AU 10 45953609 45953610 multiple base substitution (>=2bp and <=200bp) AG TA 3_prime_UTR_variant MELA-AU 10 45953609 45953610 multiple base substitution (>=2bp and <=200bp) AG TA downstream_gene_variant MELA-AU 10 45953609 45953610 multiple base substitution (>=2bp and <=200bp) AG TA exon_variant MELA-AU 10 45953979 45953979 single base substitution C T downstream_gene_variant MELA-AU 10 45953979 45953979 single base substitution C T exon_variant MELA-AU 10 45953979 45953979 single base substitution C T stop_gained W195* 584G>A MELA-AU 10 45953979 45953979 single base substitution C T stop_gained W477* 1430G>A MELA-AU 10 45954262 45954262 single base substitution G A downstream_gene_variant MELA-AU 10 45954262 45954262 single base substitution G A intron_variant MELA-AU 10 45954431 45954431 single base substitution G A downstream_gene_variant MELA-AU 10 45954431 45954431 single base substitution G A intron_variant MELA-AU 10 45954674 45954674 single base substitution G A downstream_gene_variant MELA-AU 10 45954674 45954674 single base substitution G A exon_variant MELA-AU 10 45954674 45954674 single base substitution G A synonymous_variant I155I 465C>T MELA-AU 10 45954674 45954674 single base substitution G A synonymous_variant I437I 1311C>T MELA-AU 10 45955530 45955530 single base substitution G A downstream_gene_variant MELA-AU 10 45955530 45955530 single base substitution G A intron_variant MELA-AU 10 45955637 45955637 single base substitution A C downstream_gene_variant MELA-AU 10 45955637 45955637 single base substitution A C intron_variant MELA-AU 10 45956046 45956046 single base substitution G A downstream_gene_variant MELA-AU 10 45956046 45956046 single base substitution G A intron_variant MELA-AU 10 45956645 45956645 single base substitution C T downstream_gene_variant MELA-AU 10 45956645 45956645 single base substitution C T exon_variant MELA-AU 10 45956645 45956645 single base substitution C T intron_variant MELA-AU 10 45956867 45956867 single base substitution G A exon_variant MELA-AU 10 45956867 45956867 single base substitution G A intron_variant MELA-AU 10 45956867 45956867 single base substitution G A splice_region_variant MELA-AU 10 45956871 45956871 single base substitution G A exon_variant MELA-AU 10 45956871 45956871 single base substitution G A intron_variant MELA-AU 10 45956872 45956872 single base substitution G A exon_variant MELA-AU 10 45956872 45956872 single base substitution G A intron_variant MELA-AU 10 45957312 45957312 single base substitution C T exon_variant MELA-AU 10 45957312 45957312 single base substitution C T intron_variant MELA-AU 10 45957397 45957397 single base substitution C T exon_variant MELA-AU 10 45957397 45957397 single base substitution C T intron_variant MELA-AU 10 45957467 45957467 single base substitution G A exon_variant MELA-AU 10 45957467 45957467 single base substitution G A intron_variant MELA-AU 10 45957782 45957782 single base substitution G A intron_variant MELA-AU 10 45957782 45957782 single base substitution G A upstream_gene_variant MELA-AU 10 45957890 45957890 single base substitution G A intron_variant MELA-AU 10 45957890 45957890 single base substitution G A upstream_gene_variant MELA-AU 10 45958125 45958125 single base substitution G A intron_variant MELA-AU 10 45958125 45958125 single base substitution G A upstream_gene_variant MELA-AU 10 45958168 45958168 single base substitution G A intron_variant MELA-AU 10 45958168 45958168 single base substitution G A upstream_gene_variant MELA-AU 10 45958745 45958745 single base substitution C T intron_variant MELA-AU 10 45958745 45958745 single base substitution C T synonymous_variant E314E 942G>A MELA-AU 10 45958745 45958745 single base substitution C T upstream_gene_variant MELA-AU 10 45959216 45959216 single base substitution G A intron_variant MELA-AU 10 45959216 45959216 single base substitution G A synonymous_variant S157S 471C>T MELA-AU 10 45959216 45959216 single base substitution G A upstream_gene_variant MELA-AU 10 45959295 45959295 single base substitution G A intron_variant MELA-AU 10 45959295 45959295 single base substitution G A missense_variant S131F 392C>T MELA-AU 10 45959295 45959295 single base substitution G A upstream_gene_variant MELA-AU 10 45959405 45959405 single base substitution G A intron_variant MELA-AU 10 45959405 45959405 single base substitution G A synonymous_variant S94S 282C>T MELA-AU 10 45959405 45959405 single base substitution G A upstream_gene_variant MELA-AU 10 45959546 45959546 single base substitution G A intron_variant MELA-AU 10 45959546 45959546 single base substitution G A upstream_gene_variant MELA-AU 10 45959728 45959728 single base substitution G A exon_variant MELA-AU 10 45959728 45959728 single base substitution G A synonymous_variant F67F 201C>T MELA-AU 10 45959728 45959728 single base substitution G A upstream_gene_variant MELA-AU 10 45960085 45960085 single base substitution G A intron_variant MELA-AU 10 45960085 45960085 single base substitution G A upstream_gene_variant MELA-AU 10 45960940 45960940 single base substitution C T intron_variant MELA-AU 10 45960940 45960940 single base substitution C T upstream_gene_variant MELA-AU 10 45961388 45961388 single base substitution T C intron_variant MELA-AU 10 45961388 45961388 single base substitution T C upstream_gene_variant MELA-AU 10 45962017 45962017 single base substitution C T intron_variant MELA-AU 10 45962017 45962017 single base substitution C T upstream_gene_variant MELA-AU 10 45962203 45962203 single base substitution G A intron_variant MELA-AU 10 45962203 45962203 single base substitution G A upstream_gene_variant MELA-AU 10 45962291 45962291 single base substitution G A intron_variant MELA-AU 10 45962291 45962291 single base substitution G A upstream_gene_variant MELA-AU 10 45962307 45962307 single base substitution G A intron_variant MELA-AU 10 45962307 45962307 single base substitution G A upstream_gene_variant MELA-AU 10 45962562 45962562 single base substitution G A intron_variant MELA-AU 10 45962562 45962562 single base substitution G A upstream_gene_variant MELA-AU 10 45962715 45962715 single base substitution G A intron_variant MELA-AU 10 45962907 45962907 single base substitution G A intron_variant MELA-AU 10 45963252 45963252 single base substitution C T intron_variant MELA-AU 10 45963352 45963352 single base substitution C T intron_variant MELA-AU 10 45963626 45963626 single base substitution G A intron_variant MELA-AU 10 45963689 45963689 single base substitution A T intron_variant MELA-AU 10 45963700 45963700 single base substitution C A intron_variant MELA-AU 10 45963717 45963717 single base substitution C T intron_variant MELA-AU 10 45963861 45963861 single base substitution T C intron_variant MELA-AU 10 45964953 45964953 single base substitution G A intron_variant MELA-AU 10 45966103 45966103 single base substitution C T intron_variant MELA-AU 10 45966179 45966179 single base substitution G A intron_variant MELA-AU 10 45967001 45967001 single base substitution T G intron_variant MELA-AU 10 45968091 45968091 single base substitution G A intron_variant MELA-AU 10 45968099 45968099 single base substitution G A intron_variant MELA-AU 10 45968227 45968227 single base substitution G A intron_variant MELA-AU 10 45968503 45968503 single base substitution A G intron_variant MELA-AU 10 45968893 45968893 single base substitution C T intron_variant MELA-AU 10 45969495 45969495 single base substitution G A intron_variant MELA-AU 10 45969680 45969681 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 45970128 45970128 single base substitution G A intron_variant MELA-AU 10 45970213 45970213 single base substitution G A intron_variant MELA-AU 10 45970275 45970275 single base substitution G A intron_variant MELA-AU 10 45970696 45970696 single base substitution C T intron_variant MELA-AU 10 45971042 45971042 single base substitution G T intron_variant MELA-AU 10 45971044 45971044 single base substitution T C intron_variant MELA-AU 10 45971512 45971512 single base substitution G A intron_variant MELA-AU 10 45971512 45971512 single base substitution G T intron_variant MELA-AU 10 45971688 45971688 single base substitution C T intron_variant MELA-AU 10 45972959 45972959 single base substitution G A intron_variant MELA-AU 10 45973157 45973157 single base substitution G A intron_variant MELA-AU 10 45973715 45973715 single base substitution G A intron_variant MELA-AU 10 45973745 45973745 single base substitution C T intron_variant MELA-AU 10 45974012 45974012 single base substitution G A intron_variant MELA-AU 10 45974175 45974175 single base substitution A G intron_variant MELA-AU 10 45974178 45974178 single base substitution G A intron_variant MELA-AU 10 45974618 45974618 single base substitution G A intron_variant MELA-AU 10 45974734 45974734 single base substitution T A intron_variant MELA-AU 10 45974826 45974826 single base substitution G A intron_variant MELA-AU 10 45974888 45974888 single base substitution G A intron_variant MELA-AU 10 45974963 45974963 single base substitution C A intron_variant MELA-AU 10 45975297 45975312 deletion of <=200bp ATAAAGATACCTGAAA - intron_variant MELA-AU 10 45975477 45975477 single base substitution G A intron_variant MELA-AU 10 45975490 45975490 single base substitution G A intron_variant MELA-AU 10 45975573 45975573 single base substitution A C intron_variant MELA-AU 10 45975620 45975620 single base substitution G A intron_variant MELA-AU 10 45976142 45976142 single base substitution G A intron_variant MELA-AU 10 45976293 45976293 single base substitution G A intron_variant MELA-AU 10 45976672 45976675 deletion of <=200bp AACT - intron_variant MELA-AU 10 45976731 45976731 single base substitution G A intron_variant MELA-AU 10 45976761 45976761 single base substitution G A intron_variant MELA-AU 10 45976949 45976949 single base substitution G A intron_variant MELA-AU 10 45977421 45977421 single base substitution G T intron_variant MELA-AU 10 45977563 45977563 single base substitution G A intron_variant MELA-AU 10 45978338 45978338 single base substitution G A intron_variant MELA-AU 10 45978858 45978858 single base substitution G A intron_variant MELA-AU 10 45978935 45978935 single base substitution C T intron_variant MELA-AU 10 45979050 45979050 single base substitution G A intron_variant MELA-AU 10 45979339 45979340 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 45979353 45979353 single base substitution G A intron_variant MELA-AU 10 45979771 45979771 single base substitution G A intron_variant MELA-AU 10 45979934 45979934 single base substitution A C intron_variant MELA-AU 10 45980189 45980189 single base substitution G A intron_variant MELA-AU 10 45980238 45980238 single base substitution G A intron_variant MELA-AU 10 45980384 45980384 single base substitution G A intron_variant MELA-AU 10 45980496 45980496 single base substitution G A intron_variant MELA-AU 10 45980693 45980693 single base substitution G A intron_variant MELA-AU 10 45980754 45980754 single base substitution G A intron_variant MELA-AU 10 45981122 45981122 single base substitution C G intron_variant MELA-AU 10 45981359 45981359 single base substitution G A intron_variant MELA-AU 10 45981686 45981686 single base substitution A G intron_variant MELA-AU 10 45981919 45981920 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 45982307 45982307 single base substitution G A intron_variant MELA-AU 10 45982432 45982432 single base substitution G A intron_variant MELA-AU 10 45983087 45983087 single base substitution G A intron_variant MELA-AU 10 45983637 45983637 single base substitution C T intron_variant MELA-AU 10 45983980 45983980 single base substitution G A intron_variant MELA-AU 10 45984251 45984251 single base substitution C T intron_variant MELA-AU 10 45985282 45985282 single base substitution G A intron_variant MELA-AU 10 45985462 45985462 single base substitution G A intron_variant MELA-AU 10 45985797 45985798 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 45986329 45986329 single base substitution G A intron_variant MELA-AU 10 45986373 45986373 single base substitution G A intron_variant MELA-AU 10 45986494 45986494 single base substitution G A intron_variant MELA-AU 10 45987409 45987409 single base substitution G A intron_variant MELA-AU 10 45987509 45987509 single base substitution G A intron_variant MELA-AU 10 45987602 45987602 single base substitution G A intron_variant MELA-AU 10 45988002 45988002 single base substitution C T intron_variant MELA-AU 10 45988024 45988024 single base substitution C T intron_variant MELA-AU 10 45988292 45988292 single base substitution G A intron_variant MELA-AU 10 45989469 45989469 single base substitution C T intron_variant MELA-AU 10 45989779 45989779 single base substitution G A intron_variant MELA-AU 10 45990018 45990018 single base substitution C T intron_variant MELA-AU 10 45990039 45990039 single base substitution G A intron_variant MELA-AU 10 45990166 45990166 single base substitution G A intron_variant MELA-AU 10 45990256 45990256 single base substitution G A intron_variant MELA-AU 10 45990371 45990371 single base substitution C T intron_variant MELA-AU 10 45990573 45990573 single base substitution A G intron_variant MELA-AU 10 45990965 45990965 single base substitution G A intron_variant MELA-AU 10 45991622 45991622 single base substitution G A intron_variant MELA-AU 10 45991871 45991871 single base substitution G A intron_variant MELA-AU 10 45991937 45991937 single base substitution G A intron_variant MELA-AU 10 45992034 45992034 single base substitution C T intron_variant MELA-AU 10 45992194 45992194 single base substitution G A intron_variant MELA-AU 10 45992344 45992344 single base substitution G A intron_variant MELA-AU 10 45992352 45992352 single base substitution G A intron_variant MELA-AU 10 45992646 45992646 single base substitution G A intron_variant MELA-AU 10 45992717 45992717 single base substitution T A intron_variant MELA-AU 10 45993041 45993041 single base substitution C T intron_variant MELA-AU 10 45993317 45993317 single base substitution G A intron_variant MELA-AU 10 45993866 45993866 single base substitution C A intron_variant MELA-AU 10 45994006 45994006 single base substitution C T intron_variant MELA-AU 10 45994212 45994212 single base substitution C T intron_variant MELA-AU 10 45994547 45994547 single base substitution G A intron_variant MELA-AU 10 45994843 45994843 single base substitution C T intron_variant MELA-AU 10 45995130 45995130 single base substitution G A intron_variant MELA-AU 10 45995965 45995965 single base substitution G A intron_variant MELA-AU 10 45996127 45996127 single base substitution G A intron_variant MELA-AU 10 45996358 45996358 single base substitution G A intron_variant MELA-AU 10 45996507 45996507 single base substitution G A intron_variant MELA-AU 10 45996611 45996611 single base substitution C G intron_variant MELA-AU 10 45997589 45997589 single base substitution G A intron_variant MELA-AU 10 45998167 45998167 single base substitution G A intron_variant MELA-AU 10 45998380 45998382 deletion of <=200bp AAT - intron_variant MELA-AU 10 45998689 45998689 single base substitution A T intron_variant MELA-AU 10 45999107 45999107 single base substitution G A intron_variant MELA-AU 10 45999158 45999158 single base substitution G A intron_variant MELA-AU 10 45999175 45999175 single base substitution C T intron_variant MELA-AU 10 45999535 45999535 single base substitution C T intron_variant MELA-AU 10 45999785 45999785 single base substitution G A intron_variant MELA-AU 10 45999800 45999800 single base substitution G A intron_variant MELA-AU 10 45999819 45999819 single base substitution G A intron_variant MELA-AU 10 45999854 45999854 single base substitution T C intron_variant MELA-AU 10 45999887 45999887 single base substitution C T intron_variant MELA-AU 10 46000274 46000274 single base substitution T C intron_variant MELA-AU 10 46000749 46000749 single base substitution G A intron_variant MELA-AU 10 46001044 46001044 single base substitution T C intron_variant MELA-AU 10 46001141 46001141 single base substitution C T intron_variant MELA-AU 10 46001336 46001336 single base substitution G A intron_variant MELA-AU 10 46002007 46002007 single base substitution G A intron_variant MELA-AU 10 46002295 46002295 single base substitution C T intron_variant MELA-AU 10 46002689 46002689 single base substitution G A intron_variant MELA-AU 10 46002816 46002816 single base substitution G A intron_variant MELA-AU 10 46002964 46002964 single base substitution G A intron_variant MELA-AU 10 46003135 46003135 single base substitution G A intron_variant MELA-AU 10 46003406 46003406 single base substitution G A intron_variant MELA-AU 10 46003492 46003492 single base substitution A G intron_variant MELA-AU 10 46003635 46003635 single base substitution C A intron_variant MELA-AU 10 46004779 46004779 single base substitution G A intron_variant MELA-AU 10 46005208 46005208 single base substitution G A intron_variant MELA-AU 10 46005495 46005495 single base substitution G A intron_variant MELA-AU 10 46006061 46006061 single base substitution C A intron_variant MELA-AU 10 46006191 46006191 single base substitution G A intron_variant MELA-AU 10 46006610 46006610 single base substitution G A intron_variant MELA-AU 10 46006832 46006832 single base substitution C T intron_variant MELA-AU 10 46007398 46007398 single base substitution T C intron_variant MELA-AU 10 46007835 46007835 single base substitution G A intron_variant MELA-AU 10 46007838 46007838 single base substitution G A intron_variant MELA-AU 10 46007921 46007921 single base substitution G A intron_variant MELA-AU 10 46007962 46007962 single base substitution G A intron_variant MELA-AU 10 46008087 46008087 single base substitution G A intron_variant MELA-AU 10 46009369 46009369 single base substitution G T intron_variant MELA-AU 10 46009489 46009489 single base substitution G A intron_variant MELA-AU 10 46010491 46010491 single base substitution G T intron_variant MELA-AU 10 46010863 46010863 single base substitution C T intron_variant MELA-AU 10 46011213 46011213 single base substitution A G intron_variant MELA-AU 10 46011691 46011691 single base substitution C T intron_variant MELA-AU 10 46011813 46011813 single base substitution G A intron_variant MELA-AU 10 46011898 46011898 single base substitution C T intron_variant MELA-AU 10 46012033 46012033 single base substitution G A intron_variant MELA-AU 10 46012450 46012451 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 46012837 46012837 single base substitution G A intron_variant MELA-AU 10 46013007 46013007 single base substitution C T intron_variant MELA-AU 10 46014325 46014325 single base substitution C T intron_variant MELA-AU 10 46014704 46014704 single base substitution G A intron_variant MELA-AU 10 46014823 46014823 single base substitution G A intron_variant MELA-AU 10 46014845 46014845 single base substitution T C intron_variant MELA-AU 10 46015623 46015623 single base substitution C T intron_variant MELA-AU 10 46016573 46016621 deletion of <=200bp CAAAAGTTCTTCATTGAAGAACAATTGATGGGGAATGAAGTCACTTTTA - intron_variant MELA-AU 10 46018995 46018995 single base substitution G A intron_variant MELA-AU 10 46019055 46019055 single base substitution G A intron_variant MELA-AU 10 46019239 46019239 single base substitution A G intron_variant MELA-AU 10 46019819 46019819 single base substitution G A intron_variant MELA-AU 10 46020140 46020141 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 46020474 46020474 single base substitution G A intron_variant MELA-AU 10 46020648 46020648 single base substitution G A intron_variant MELA-AU 10 46021131 46021131 single base substitution A G intron_variant MELA-AU 10 46021268 46021268 single base substitution G A intron_variant MELA-AU 10 46021367 46021367 single base substitution G A intron_variant MELA-AU 10 46021949 46021949 single base substitution G A intron_variant MELA-AU 10 46023563 46023563 single base substitution C T intron_variant MELA-AU 10 46023633 46023633 single base substitution G A intron_variant MELA-AU 10 46023637 46023637 single base substitution G A intron_variant MELA-AU 10 46023695 46023695 single base substitution G C intron_variant MELA-AU 10 46023720 46023720 single base substitution A T intron_variant MELA-AU 10 46023856 46023856 single base substitution G A intron_variant MELA-AU 10 46023879 46023879 single base substitution C T intron_variant MELA-AU 10 46025192 46025192 single base substitution A C intron_variant MELA-AU 10 46025391 46025392 multiple base substitution (>=2bp and <=200bp) CG AA intron_variant MELA-AU 10 46026402 46026402 single base substitution C T intron_variant MELA-AU 10 46026591 46026591 single base substitution A G intron_variant MELA-AU 10 46026632 46026632 single base substitution G A intron_variant MELA-AU 10 46027232 46027232 single base substitution C A intron_variant MELA-AU 10 46027254 46027254 single base substitution G A intron_variant MELA-AU 10 46027320 46027320 single base substitution C T intron_variant MELA-AU 10 46027595 46027595 single base substitution C T intron_variant MELA-AU 10 46027788 46027788 single base substitution C T intron_variant MELA-AU 10 46027835 46027835 single base substitution G A intron_variant MELA-AU 10 46027929 46027929 single base substitution G T intron_variant MELA-AU 10 46028622 46028622 single base substitution G A exon_variant MELA-AU 10 46028622 46028622 single base substitution G A missense_variant S13F 38C>T MELA-AU 10 46028678 46028678 single base substitution C T 5_prime_UTR_variant MELA-AU 10 46028678 46028678 single base substitution C T exon_variant MELA-AU 10 46028944 46028944 single base substitution G A intron_variant MELA-AU 10 46029249 46029249 single base substitution A G intron_variant MELA-AU 10 46029322 46029322 single base substitution G A intron_variant MELA-AU 10 46030104 46030104 single base substitution G A intron_variant MELA-AU 10 46030170 46030170 single base substitution G A intron_variant MELA-AU 10 46031903 46031903 single base substitution G A intron_variant MELA-AU 10 46031903 46031903 single base substitution G A upstream_gene_variant MELA-AU 10 46032073 46032073 single base substitution G A intron_variant MELA-AU 10 46032073 46032073 single base substitution G A upstream_gene_variant MELA-AU 10 46032255 46032255 single base substitution G A intron_variant MELA-AU 10 46032255 46032255 single base substitution G A upstream_gene_variant MELA-AU 10 46032690 46032690 single base substitution C T intron_variant MELA-AU 10 46032690 46032690 single base substitution C T upstream_gene_variant MELA-AU 10 46033277 46033277 single base substitution G A intron_variant MELA-AU 10 46033277 46033277 single base substitution G A upstream_gene_variant MELA-AU 10 46033395 46033395 single base substitution G A intron_variant MELA-AU 10 46033395 46033395 single base substitution G A upstream_gene_variant MELA-AU 10 46033502 46033502 single base substitution G A intron_variant MELA-AU 10 46033502 46033502 single base substitution G A upstream_gene_variant MELA-AU 10 46033598 46033598 single base substitution G A intron_variant MELA-AU 10 46033598 46033598 single base substitution G A upstream_gene_variant MELA-AU 10 46033624 46033624 single base substitution G A intron_variant MELA-AU 10 46033624 46033624 single base substitution G A upstream_gene_variant MELA-AU 10 46034059 46034059 single base substitution G A intron_variant MELA-AU 10 46034059 46034059 single base substitution G A upstream_gene_variant MELA-AU 10 46034085 46034085 single base substitution G A intron_variant MELA-AU 10 46034085 46034085 single base substitution G A upstream_gene_variant MELA-AU 10 46034601 46034601 single base substitution G A intron_variant MELA-AU 10 46034601 46034601 single base substitution G A upstream_gene_variant MELA-AU 10 46034854 46034854 single base substitution G A intron_variant MELA-AU 10 46034854 46034854 single base substitution G A upstream_gene_variant MELA-AU 10 46035615 46035615 single base substitution C T intron_variant MELA-AU 10 46035615 46035615 single base substitution C T upstream_gene_variant MELA-AU 10 46037267 46037267 single base substitution G A intron_variant MELA-AU 10 46037459 46037459 single base substitution A G intron_variant MELA-AU 10 46037783 46037783 single base substitution G A intron_variant MELA-AU 10 46037965 46037965 single base substitution C T intron_variant MELA-AU 10 46038201 46038201 single base substitution G A intron_variant MELA-AU 10 46038921 46038921 single base substitution G A intron_variant MELA-AU 10 46039820 46039820 single base substitution T A intron_variant MELA-AU 10 46039836 46039836 single base substitution G A intron_variant MELA-AU 10 46039992 46039992 single base substitution G A intron_variant MELA-AU 10 46040035 46040035 single base substitution G A intron_variant MELA-AU 10 46040176 46040176 single base substitution G A intron_variant MELA-AU 10 46040193 46040193 single base substitution G A intron_variant MELA-AU 10 46040474 46040474 single base substitution C G intron_variant MELA-AU 10 46040612 46040612 single base substitution G A intron_variant MELA-AU 10 46040789 46040789 single base substitution G A intron_variant MELA-AU 10 46041274 46041274 single base substitution G A intron_variant MELA-AU 10 46041375 46041375 single base substitution C T intron_variant MELA-AU 10 46041503 46041503 single base substitution A C intron_variant MELA-AU 10 46041582 46041582 single base substitution G A intron_variant MELA-AU 10 46041593 46041593 single base substitution T C intron_variant MELA-AU 10 46041658 46041658 single base substitution G A intron_variant MELA-AU 10 46042095 46042095 single base substitution G A intron_variant MELA-AU 10 46042444 46042444 single base substitution G A intron_variant MELA-AU 10 46043565 46043565 single base substitution G A intron_variant MELA-AU 10 46043607 46043607 single base substitution G A intron_variant MELA-AU 10 46043638 46043638 single base substitution G A intron_variant MELA-AU 10 46044219 46044219 single base substitution G A intron_variant MELA-AU 10 46044262 46044262 single base substitution G A intron_variant MELA-AU 10 46044340 46044340 single base substitution G C intron_variant MELA-AU 10 46044551 46044551 single base substitution G A intron_variant MELA-AU 10 46045844 46045844 deletion of <=200bp A - intron_variant MELA-AU 10 46046139 46046139 single base substitution C G intron_variant MELA-AU 10 46046204 46046204 single base substitution A C intron_variant MELA-AU 10 46046352 46046353 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 10 46046436 46046437 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 46047598 46047598 single base substitution C T intron_variant MELA-AU 10 46048579 46048579 single base substitution G A 5_prime_UTR_variant MELA-AU 10 46048579 46048579 single base substitution G A intron_variant MELA-AU 10 46049371 46049371 single base substitution G T intron_variant MELA-AU 10 46049729 46049729 single base substitution T A intron_variant MELA-AU 10 46049912 46049912 single base substitution G A intron_variant MELA-AU 10 46050910 46050910 single base substitution C T intron_variant MELA-AU 10 46051029 46051029 single base substitution G A intron_variant MELA-AU 10 46051586 46051586 single base substitution G A intron_variant MELA-AU 10 46052380 46052380 single base substitution A T intron_variant MELA-AU 10 46052739 46052739 single base substitution G A intron_variant MELA-AU 10 46053493 46053493 single base substitution G C intron_variant MELA-AU 10 46053653 46053653 single base substitution G A intron_variant MELA-AU 10 46054349 46054349 single base substitution G A intron_variant MELA-AU 10 46054519 46054519 single base substitution G A intron_variant MELA-AU 10 46054780 46054780 single base substitution G A intron_variant MELA-AU 10 46054817 46054817 single base substitution C T intron_variant MELA-AU 10 46054833 46054833 single base substitution G A intron_variant MELA-AU 10 46055886 46055886 single base substitution T A intron_variant MELA-AU 10 46056581 46056581 single base substitution A G intron_variant MELA-AU 10 46057209 46057209 single base substitution C T intron_variant MELA-AU 10 46057262 46057262 single base substitution T C intron_variant MELA-AU 10 46057562 46057562 single base substitution G A intron_variant MELA-AU 10 46058072 46058072 single base substitution C T intron_variant MELA-AU 10 46058255 46058255 single base substitution G A intron_variant MELA-AU 10 46058578 46058578 single base substitution G A intron_variant MELA-AU 10 46059618 46059618 single base substitution G A intron_variant MELA-AU 10 46059621 46059621 single base substitution G C intron_variant MELA-AU 10 46059705 46059705 single base substitution G A intron_variant MELA-AU 10 46059752 46059752 single base substitution A G intron_variant MELA-AU 10 46059867 46059867 single base substitution G A intron_variant MELA-AU 10 46061001 46061001 single base substitution G A intron_variant MELA-AU 10 46061774 46061774 single base substitution G A intron_variant MELA-AU 10 46063043 46063043 single base substitution G A intron_variant MELA-AU 10 46063328 46063328 single base substitution G A intron_variant MELA-AU 10 46063497 46063497 single base substitution G A intron_variant MELA-AU 10 46063931 46063931 single base substitution G A intron_variant MELA-AU 10 46064811 46064811 single base substitution G A intron_variant MELA-AU 10 46064821 46064821 single base substitution C T intron_variant MELA-AU 10 46064965 46064965 single base substitution G A intron_variant MELA-AU 10 46065530 46065530 single base substitution C T intron_variant MELA-AU 10 46065895 46065895 single base substitution A G intron_variant MELA-AU 10 46066110 46066110 single base substitution G A intron_variant MELA-AU 10 46066391 46066391 single base substitution G A intron_variant MELA-AU 10 46066541 46066541 single base substitution G A intron_variant MELA-AU 10 46066558 46066558 single base substitution G A intron_variant MELA-AU 10 46067024 46067024 single base substitution T G intron_variant MELA-AU 10 46067036 46067036 single base substitution G A intron_variant MELA-AU 10 46067038 46067038 single base substitution T A intron_variant MELA-AU 10 46067354 46067354 single base substitution G A intron_variant MELA-AU 10 46067440 46067440 single base substitution G A intron_variant MELA-AU 10 46067444 46067444 single base substitution C T intron_variant MELA-AU 10 46067648 46067648 single base substitution C T intron_variant MELA-AU 10 46067956 46067956 single base substitution G A intron_variant MELA-AU 10 46068043 46068043 single base substitution G A intron_variant MELA-AU 10 46068300 46068300 single base substitution G A intron_variant MELA-AU 10 46069063 46069063 single base substitution G A intron_variant MELA-AU 10 46069115 46069115 single base substitution C T intron_variant MELA-AU 10 46069787 46069787 single base substitution G A intron_variant MELA-AU 10 46069952 46069952 single base substitution C T intron_variant MELA-AU 10 46070428 46070428 single base substitution A T intron_variant MELA-AU 10 46070801 46070801 single base substitution G A intron_variant MELA-AU 10 46070934 46070934 single base substitution G A intron_variant MELA-AU 10 46070965 46070965 single base substitution T C intron_variant MELA-AU 10 46071167 46071167 single base substitution C T intron_variant MELA-AU 10 46071426 46071426 single base substitution C T intron_variant MELA-AU 10 46071708 46071708 single base substitution G A intron_variant MELA-AU 10 46072419 46072419 single base substitution A T intron_variant MELA-AU 10 46073179 46073179 single base substitution G A intron_variant MELA-AU 10 46073354 46073354 single base substitution A T intron_variant MELA-AU 10 46073746 46073746 single base substitution G A intron_variant MELA-AU 10 46074377 46074377 single base substitution A G intron_variant MELA-AU 10 46074670 46074670 single base substitution G A intron_variant MELA-AU 10 46075614 46075614 single base substitution G A intron_variant MELA-AU 10 46075746 46075746 single base substitution G A intron_variant MELA-AU 10 46077726 46077726 single base substitution C T intron_variant MELA-AU 10 46077976 46077976 single base substitution G A intron_variant MELA-AU 10 46078007 46078008 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 46078325 46078325 single base substitution A T intron_variant MELA-AU 10 46078384 46078384 single base substitution G A intron_variant MELA-AU 10 46078663 46078663 single base substitution G A intron_variant MELA-AU 10 46079257 46079257 single base substitution T G intron_variant MELA-AU 10 46079441 46079441 single base substitution G A intron_variant MELA-AU 10 46079864 46079864 single base substitution G A intron_variant MELA-AU 10 46080697 46080697 single base substitution G A intron_variant MELA-AU 10 46080700 46080700 single base substitution A C intron_variant MELA-AU 10 46080923 46080923 single base substitution G T intron_variant MELA-AU 10 46081021 46081021 single base substitution G A intron_variant MELA-AU 10 46081713 46081713 single base substitution T C intron_variant MELA-AU 10 46082163 46082163 single base substitution G A intron_variant MELA-AU 10 46082594 46082594 single base substitution G C intron_variant MELA-AU 10 46082760 46082760 single base substitution G A intron_variant MELA-AU 10 46083228 46083228 single base substitution A C intron_variant MELA-AU 10 46083440 46083441 multiple base substitution (>=2bp and <=200bp) GA CC intron_variant MELA-AU 10 46084583 46084583 single base substitution A G downstream_gene_variant MELA-AU 10 46084583 46084583 single base substitution A G intron_variant MELA-AU 10 46084756 46084756 single base substitution G A downstream_gene_variant MELA-AU 10 46084756 46084756 single base substitution G A intron_variant MELA-AU 10 46085278 46085278 single base substitution T C downstream_gene_variant MELA-AU 10 46085278 46085278 single base substitution T C intron_variant MELA-AU 10 46085367 46085367 single base substitution G A downstream_gene_variant MELA-AU 10 46085367 46085367 single base substitution G A intron_variant MELA-AU 10 46085740 46085740 single base substitution G A downstream_gene_variant MELA-AU 10 46085740 46085740 single base substitution G A intron_variant MELA-AU 10 46086030 46086030 single base substitution G A downstream_gene_variant MELA-AU 10 46086030 46086030 single base substitution G A intron_variant MELA-AU 10 46086074 46086074 single base substitution G A downstream_gene_variant MELA-AU 10 46086074 46086074 single base substitution G A intron_variant MELA-AU 10 46086180 46086180 single base substitution C T downstream_gene_variant MELA-AU 10 46086180 46086180 single base substitution C T intron_variant MELA-AU 10 46086241 46086241 single base substitution G A downstream_gene_variant MELA-AU 10 46086241 46086241 single base substitution G A intron_variant MELA-AU 10 46087187 46087187 single base substitution A G downstream_gene_variant MELA-AU 10 46087187 46087187 single base substitution A G intron_variant MELA-AU 10 46087946 46087946 single base substitution G A downstream_gene_variant MELA-AU 10 46087946 46087946 single base substitution G A intron_variant MELA-AU 10 46088150 46088150 single base substitution G A downstream_gene_variant MELA-AU 10 46088150 46088150 single base substitution G A intron_variant MELA-AU 10 46088162 46088162 single base substitution T G downstream_gene_variant MELA-AU 10 46088162 46088162 single base substitution T G intron_variant MELA-AU 10 46089163 46089163 single base substitution A G intron_variant MELA-AU 10 46090373 46090373 single base substitution G A upstream_gene_variant MELA-AU 10 46090451 46090451 single base substitution T G upstream_gene_variant MELA-AU 10 46090982 46090982 single base substitution C T upstream_gene_variant MELA-AU 10 46091453 46091453 single base substitution G A upstream_gene_variant MELA-AU 10 46091984 46091984 single base substitution G A upstream_gene_variant MELA-AU 10 46091984 46091984 single base substitution G T upstream_gene_variant MELA-AU 10 46092231 46092231 single base substitution G A upstream_gene_variant MELA-AU 10 46092332 46092332 single base substitution G A upstream_gene_variant MELA-AU 10 46092364 46092364 single base substitution C T upstream_gene_variant MELA-AU 10 46092541 46092541 single base substitution A C upstream_gene_variant MELA-AU 10 46092551 46092551 single base substitution G A upstream_gene_variant MELA-AU 10 46092814 46092814 single base substitution A T upstream_gene_variant MELA-AU 10 46092816 46092816 single base substitution G A upstream_gene_variant MELA-AU 10 46092991 46092991 single base substitution G A upstream_gene_variant MELA-AU 10 46093181 46093181 single base substitution G A upstream_gene_variant MELA-AU 10 46093216 46093216 single base substitution C T upstream_gene_variant MELA-AU 10 46093375 46093375 single base substitution G A upstream_gene_variant MELA-AU 10 46093842 46093842 single base substitution C T upstream_gene_variant MELA-AU 10 46093904 46093904 single base substitution C T upstream_gene_variant MELA-AU 10 46094203 46094203 single base substitution C T upstream_gene_variant MELA-AU 10 46094521 46094521 single base substitution G A upstream_gene_variant MELA-AU 10 46094617 46094617 single base substitution G A upstream_gene_variant MELA-AU 10 46095105 46095105 single base substitution G A upstream_gene_variant MELA-AU 10 46095145 46095145 single base substitution G A upstream_gene_variant ORCA-IN 10 45960212 45960212 single base substitution C A intron_variant ORCA-IN 10 45960212 45960212 single base substitution C A upstream_gene_variant ORCA-IN 10 45981913 45981913 single base substitution G A intron_variant ORCA-IN 10 45981974 45981974 single base substitution G T intron_variant ORCA-IN 10 46020582 46020582 single base substitution A G intron_variant ORCA-IN 10 46023764 46023764 single base substitution C T intron_variant ORCA-IN 10 46067569 46067569 single base substitution T C intron_variant ORCA-IN 10 46074982 46074982 single base substitution A T intron_variant ORCA-IN 10 46087628 46087628 single base substitution C G downstream_gene_variant ORCA-IN 10 46087628 46087628 single base substitution C G intron_variant ORCA-IN 10 46094214 46094214 deletion of <=200bp G - upstream_gene_variant OV-AU 10 45950415 45950415 single base substitution T C 3_prime_UTR_variant OV-AU 10 45950415 45950415 single base substitution T C downstream_gene_variant OV-AU 10 45957852 45957852 single base substitution G A intron_variant OV-AU 10 45957852 45957852 single base substitution G A upstream_gene_variant OV-AU 10 45960798 45960798 single base substitution C A intron_variant OV-AU 10 45960798 45960798 single base substitution C A upstream_gene_variant OV-AU 10 45964551 45964551 single base substitution C A intron_variant OV-AU 10 45972424 45972424 single base substitution A G intron_variant OV-AU 10 45973096 45973096 single base substitution C T intron_variant OV-AU 10 45980677 45980677 single base substitution G C intron_variant OV-AU 10 45981872 45981872 single base substitution C T intron_variant OV-AU 10 45991693 45991693 single base substitution T C intron_variant OV-AU 10 45991970 45991970 single base substitution C A intron_variant OV-AU 10 45993437 45993437 single base substitution A C intron_variant OV-AU 10 45997862 45997862 single base substitution G T intron_variant OV-AU 10 46005855 46005855 single base substitution C T intron_variant OV-AU 10 46022955 46022955 single base substitution C G intron_variant OV-AU 10 46028475 46028475 single base substitution T A intron_variant OV-AU 10 46034516 46034516 single base substitution G A intron_variant OV-AU 10 46034516 46034516 single base substitution G A upstream_gene_variant OV-AU 10 46038347 46038347 single base substitution G C intron_variant OV-AU 10 46040618 46040618 single base substitution T C intron_variant OV-AU 10 46045093 46045093 single base substitution T C intron_variant OV-AU 10 46055586 46055586 single base substitution A T intron_variant OV-AU 10 46056628 46056628 single base substitution A T intron_variant OV-AU 10 46056908 46056908 single base substitution A T intron_variant OV-AU 10 46058098 46058098 single base substitution A T intron_variant OV-AU 10 46063044 46063044 single base substitution G A intron_variant OV-AU 10 46064419 46064419 single base substitution A T intron_variant OV-AU 10 46071329 46071329 single base substitution C G intron_variant OV-AU 10 46072054 46072054 single base substitution T G intron_variant OV-AU 10 46072708 46072708 single base substitution T C intron_variant OV-AU 10 46075571 46075571 single base substitution T C intron_variant OV-AU 10 46091298 46091298 single base substitution A C upstream_gene_variant PACA-AU 10 45950724 45950724 single base substitution G A 3_prime_UTR_variant PACA-AU 10 45950724 45950724 single base substitution G A downstream_gene_variant PACA-AU 10 45955227 45955227 single base substitution C T downstream_gene_variant PACA-AU 10 45955227 45955227 single base substitution C T intron_variant PACA-AU 10 45956144 45956144 single base substitution C T downstream_gene_variant PACA-AU 10 45956144 45956144 single base substitution C T intron_variant PACA-AU 10 45971114 45971114 single base substitution C A intron_variant PACA-AU 10 45971662 45971662 single base substitution C G intron_variant PACA-AU 10 45971687 45971687 deletion of <=200bp C - intron_variant PACA-AU 10 45977688 45977688 single base substitution C A intron_variant PACA-AU 10 45986679 45986681 deletion of <=200bp AAG - intron_variant PACA-AU 10 45987658 45987658 single base substitution G A intron_variant PACA-AU 10 46006511 46006511 single base substitution A G intron_variant PACA-AU 10 46012978 46012978 single base substitution C T intron_variant PACA-AU 10 46033563 46033563 single base substitution T A intron_variant PACA-AU 10 46033563 46033563 single base substitution T A upstream_gene_variant PACA-AU 10 46041587 46041587 insertion of <=200bp - TTTA intron_variant PACA-AU 10 46045579 46045579 single base substitution T C intron_variant PACA-AU 10 46046598 46046598 single base substitution A G intron_variant PACA-AU 10 46051274 46051274 single base substitution A G intron_variant PACA-AU 10 46051872 46051872 single base substitution T C intron_variant PACA-AU 10 46052710 46052710 single base substitution G A intron_variant PACA-AU 10 46052832 46052832 single base substitution C A intron_variant PACA-AU 10 46053752 46053752 single base substitution C A intron_variant PACA-AU 10 46054477 46054477 single base substitution G C intron_variant PACA-AU 10 46057913 46057913 single base substitution C G intron_variant PACA-AU 10 46062170 46062170 single base substitution C G intron_variant PACA-AU 10 46065876 46065876 single base substitution T C intron_variant PACA-AU 10 46066715 46066715 single base substitution G C intron_variant PACA-AU 10 46068347 46068347 single base substitution G A intron_variant PACA-AU 10 46069181 46069181 single base substitution T C intron_variant PACA-AU 10 46076775 46076775 single base substitution G A intron_variant PACA-AU 10 46077075 46077075 deletion of <=200bp A - intron_variant PACA-AU 10 46077389 46077389 single base substitution C A intron_variant PACA-AU 10 46089998 46089998 single base substitution C G 5_prime_UTR_variant PACA-AU 10 46089998 46089998 single base substitution C G exon_variant PACA-AU 10 46089998 46089998 single base substitution C G upstream_gene_variant PACA-AU 10 46089999 46089999 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 10 46089999 46089999 single base substitution G A exon_variant PACA-AU 10 46089999 46089999 single base substitution G A upstream_gene_variant PACA-AU 10 46090000 46090000 single base substitution G T 5_prime_UTR_variant PACA-AU 10 46090000 46090000 single base substitution G T exon_variant PACA-AU 10 46090000 46090000 single base substitution G T upstream_gene_variant PACA-AU 10 46093224 46093224 single base substitution T A upstream_gene_variant PACA-CA 10 45946990 45946990 single base substitution A G downstream_gene_variant PACA-CA 10 45949972 45949972 single base substitution G A downstream_gene_variant PACA-CA 10 45949991 45949991 single base substitution C T downstream_gene_variant PACA-CA 10 45950912 45950912 single base substitution T C 3_prime_UTR_variant PACA-CA 10 45950912 45950912 single base substitution T C downstream_gene_variant PACA-CA 10 45952951 45952951 single base substitution C T 3_prime_UTR_variant PACA-CA 10 45952951 45952951 single base substitution C T downstream_gene_variant PACA-CA 10 45952952 45952952 single base substitution G A 3_prime_UTR_variant PACA-CA 10 45952952 45952952 single base substitution G A downstream_gene_variant PACA-CA 10 45954237 45954237 single base substitution C A downstream_gene_variant PACA-CA 10 45954237 45954237 single base substitution C A intron_variant PACA-CA 10 45955683 45955683 single base substitution G A downstream_gene_variant PACA-CA 10 45955683 45955683 single base substitution G A intron_variant PACA-CA 10 45957010 45957010 single base substitution A G exon_variant PACA-CA 10 45957010 45957010 single base substitution A G intron_variant PACA-CA 10 45958708 45958708 single base substitution G A intron_variant PACA-CA 10 45958708 45958708 single base substitution G A missense_variant R327W 979C>T PACA-CA 10 45958708 45958708 single base substitution G A upstream_gene_variant PACA-CA 10 45959948 45959948 insertion of <=200bp - T intron_variant PACA-CA 10 45959948 45959948 insertion of <=200bp - T upstream_gene_variant PACA-CA 10 45963146 45963146 single base substitution G C intron_variant PACA-CA 10 45963329 45963329 single base substitution C A intron_variant PACA-CA 10 45965666 45965666 single base substitution C A intron_variant PACA-CA 10 45967168 45967168 single base substitution G A intron_variant PACA-CA 10 45975614 45975614 single base substitution C A intron_variant PACA-CA 10 45982751 45982751 single base substitution T C intron_variant PACA-CA 10 45984271 45984271 single base substitution C T intron_variant PACA-CA 10 45992645 45992645 single base substitution G A intron_variant PACA-CA 10 45993811 45993814 deletion of <=200bp CTGA - intron_variant PACA-CA 10 45998809 45998809 single base substitution C T intron_variant PACA-CA 10 46004982 46004982 single base substitution A G intron_variant PACA-CA 10 46006990 46006990 single base substitution C T intron_variant PACA-CA 10 46016077 46016077 single base substitution C T intron_variant PACA-CA 10 46026872 46026872 single base substitution G T intron_variant PACA-CA 10 46027406 46027406 single base substitution G A intron_variant PACA-CA 10 46029224 46029224 single base substitution C T intron_variant PACA-CA 10 46035407 46035407 single base substitution G A intron_variant PACA-CA 10 46035407 46035407 single base substitution G A upstream_gene_variant PACA-CA 10 46036170 46036170 insertion of <=200bp - A intron_variant PACA-CA 10 46038937 46038937 single base substitution T G intron_variant PACA-CA 10 46041658 46041658 single base substitution G T intron_variant PACA-CA 10 46041758 46041758 single base substitution G A intron_variant PACA-CA 10 46047032 46047032 single base substitution C T intron_variant PACA-CA 10 46055504 46055504 single base substitution G C intron_variant PACA-CA 10 46057545 46057545 single base substitution A C intron_variant PACA-CA 10 46058098 46058098 deletion of <=200bp A - intron_variant PACA-CA 10 46062478 46062478 single base substitution A G intron_variant PACA-CA 10 46064437 46064437 single base substitution C T intron_variant PACA-CA 10 46066691 46066691 single base substitution T G intron_variant PACA-CA 10 46067602 46067602 single base substitution G A intron_variant PACA-CA 10 46072148 46072148 deletion of <=200bp T - intron_variant PACA-CA 10 46074675 46074675 single base substitution G C intron_variant PACA-CA 10 46074992 46074993 deletion of <=200bp AA - intron_variant PACA-CA 10 46075614 46075614 single base substitution G A intron_variant PACA-CA 10 46076098 46076098 single base substitution G C intron_variant PACA-CA 10 46076171 46076207 deletion of <=200bp ACAACAGACTCCAAGGCAGGCTTGAGACAATATAAAG - intron_variant PACA-CA 10 46076278 46076278 single base substitution G C intron_variant PACA-CA 10 46076779 46076779 single base substitution G T intron_variant PACA-CA 10 46076859 46076859 single base substitution G C intron_variant PACA-CA 10 46077858 46077858 single base substitution T G intron_variant PACA-CA 10 46079379 46079379 single base substitution G A intron_variant PACA-CA 10 46082841 46082841 single base substitution A G intron_variant PACA-CA 10 46083604 46083604 single base substitution G A intron_variant PACA-CA 10 46086623 46086623 single base substitution C A downstream_gene_variant PACA-CA 10 46086623 46086623 single base substitution C A intron_variant PACA-CA 10 46088047 46088047 single base substitution G A downstream_gene_variant PACA-CA 10 46088047 46088047 single base substitution G A intron_variant PACA-CA 10 46088993 46088993 single base substitution C T exon_variant PACA-CA 10 46088993 46088993 single base substitution C T intron_variant PACA-CA 10 46089135 46089135 single base substitution T C intron_variant PACA-CA 10 46090351 46090351 single base substitution C G 5_prime_UTR_variant PACA-CA 10 46090351 46090351 single base substitution C G upstream_gene_variant PACA-CA 10 46092918 46092918 insertion of <=200bp - TTG upstream_gene_variant PAEN-AU 10 45958082 45958082 single base substitution G T intron_variant PAEN-AU 10 45958082 45958082 single base substitution G T upstream_gene_variant PAEN-AU 10 45962390 45962390 single base substitution C T intron_variant PAEN-AU 10 45962390 45962390 single base substitution C T upstream_gene_variant PAEN-AU 10 45994564 45994564 single base substitution T A intron_variant PAEN-AU 10 46077029 46077029 single base substitution T C intron_variant PBCA-DE 10 45950321 45950321 single base substitution C T 3_prime_UTR_variant PBCA-DE 10 45950321 45950321 single base substitution C T downstream_gene_variant PBCA-DE 10 45956088 45956088 single base substitution C T downstream_gene_variant PBCA-DE 10 45956088 45956088 single base substitution C T intron_variant PBCA-DE 10 45967484 45967484 single base substitution C T intron_variant PBCA-DE 10 45975052 45975052 single base substitution A G intron_variant PBCA-DE 10 45986831 45986831 single base substitution C A intron_variant PBCA-DE 10 45990569 45990569 insertion of <=200bp - A intron_variant PBCA-DE 10 45990762 45990762 insertion of <=200bp - A intron_variant PBCA-DE 10 45996592 45996592 insertion of <=200bp - T intron_variant PBCA-DE 10 45998980 45998980 single base substitution G A intron_variant PBCA-DE 10 45998985 45998985 insertion of <=200bp - AAAT intron_variant PBCA-DE 10 46007533 46007533 single base substitution C T intron_variant PBCA-DE 10 46009771 46009771 single base substitution C T intron_variant PBCA-DE 10 46011379 46011379 single base substitution C A intron_variant PBCA-DE 10 46020416 46020416 single base substitution T G intron_variant PBCA-DE 10 46025566 46025566 insertion of <=200bp - T intron_variant PBCA-DE 10 46041010 46041010 single base substitution A G intron_variant PBCA-DE 10 46047289 46047290 deletion of <=200bp AC - intron_variant PBCA-DE 10 46047651 46047651 single base substitution G T intron_variant PBCA-DE 10 46049282 46049283 deletion of <=200bp CA - intron_variant PBCA-DE 10 46061027 46061027 deletion of <=200bp A - intron_variant PBCA-DE 10 46067287 46067287 single base substitution T C intron_variant PBCA-DE 10 46070619 46070619 insertion of <=200bp - A intron_variant PBCA-DE 10 46079326 46079326 single base substitution C T intron_variant PBCA-DE 10 46088766 46088766 insertion of <=200bp - A downstream_gene_variant PBCA-DE 10 46088766 46088766 insertion of <=200bp - A intron_variant PBCA-DE 10 46092657 46092657 single base substitution T C upstream_gene_variant PBCA-DE 10 46095208 46095208 single base substitution A T upstream_gene_variant PRAD-CA 10 45946936 45946936 single base substitution G A downstream_gene_variant PRAD-CA 10 45955230 45955230 single base substitution C T downstream_gene_variant PRAD-CA 10 45955230 45955230 single base substitution C T intron_variant PRAD-CA 10 45956483 45956483 single base substitution G A downstream_gene_variant PRAD-CA 10 45956483 45956483 single base substitution G A intron_variant PRAD-CA 10 45993153 45993153 single base substitution C T intron_variant PRAD-CA 10 45996389 45996389 single base substitution A C intron_variant PRAD-CA 10 46014719 46014719 single base substitution A G intron_variant PRAD-CA 10 46034055 46034055 single base substitution A T intron_variant PRAD-CA 10 46034055 46034055 single base substitution A T upstream_gene_variant PRAD-CA 10 46072246 46072246 single base substitution G A intron_variant PRAD-UK 10 45961888 45961888 single base substitution A C intron_variant PRAD-UK 10 45961888 45961888 single base substitution A C upstream_gene_variant PRAD-UK 10 45990673 45990673 single base substitution C T intron_variant PRAD-UK 10 45990703 45990703 single base substitution C T intron_variant PRAD-UK 10 45992530 45992530 single base substitution T G intron_variant PRAD-UK 10 45999195 45999195 single base substitution G C intron_variant PRAD-UK 10 46001530 46001530 single base substitution C A intron_variant PRAD-UK 10 46002767 46002767 single base substitution C T intron_variant PRAD-UK 10 46022034 46022034 single base substitution G C intron_variant PRAD-UK 10 46031223 46031223 single base substitution G A intron_variant PRAD-UK 10 46031223 46031223 single base substitution G A upstream_gene_variant PRAD-UK 10 46033860 46033860 single base substitution C T intron_variant PRAD-UK 10 46033860 46033860 single base substitution C T upstream_gene_variant PRAD-UK 10 46053482 46053482 single base substitution T C intron_variant PRAD-UK 10 46055717 46055726 deletion of <=200bp TTCTTGGAAG - intron_variant PRAD-UK 10 46055867 46055867 single base substitution C T intron_variant PRAD-UK 10 46058098 46058098 insertion of <=200bp - A intron_variant READ-US 10 45956732 45956732 single base substitution C T downstream_gene_variant READ-US 10 45956732 45956732 single base substitution C T exon_variant READ-US 10 45956732 45956732 single base substitution C T missense_variant E124K 370G>A READ-US 10 45956732 45956732 single base substitution C T missense_variant E406K 1216G>A READ-US 10 45959710 45959710 single base substitution C T exon_variant READ-US 10 45959710 45959710 single base substitution C T synonymous_variant T73T 219G>A READ-US 10 45959710 45959710 single base substitution C T upstream_gene_variant RECA-EU 10 45948915 45948915 single base substitution T C downstream_gene_variant RECA-EU 10 45956362 45956362 single base substitution A T downstream_gene_variant RECA-EU 10 45956362 45956362 single base substitution A T intron_variant RECA-EU 10 45966546 45966546 single base substitution T A intron_variant RECA-EU 10 45968178 45968178 single base substitution C G intron_variant RECA-EU 10 45968894 45968894 single base substitution C T intron_variant RECA-EU 10 45980980 45980980 single base substitution C A intron_variant RECA-EU 10 45992393 45992393 single base substitution A C intron_variant RECA-EU 10 46001301 46001301 single base substitution A T intron_variant RECA-EU 10 46006346 46006346 single base substitution C A intron_variant RECA-EU 10 46008891 46008891 single base substitution A G intron_variant RECA-EU 10 46025917 46025917 single base substitution T A intron_variant RECA-EU 10 46033645 46033645 single base substitution A T intron_variant RECA-EU 10 46033645 46033645 single base substitution A T upstream_gene_variant RECA-EU 10 46044590 46044590 single base substitution A T intron_variant RECA-EU 10 46048130 46048130 single base substitution T G intron_variant RECA-EU 10 46049078 46049078 single base substitution T A intron_variant RECA-EU 10 46051798 46051798 single base substitution A G intron_variant RECA-EU 10 46054309 46054309 single base substitution T A intron_variant RECA-EU 10 46076221 46076221 single base substitution G T intron_variant SKCA-BR 10 45945039 45945039 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 10 45946954 45946954 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 10 45947119 45947120 deletion of <=200bp TG - downstream_gene_variant SKCA-BR 10 45949023 45949023 single base substitution G A downstream_gene_variant SKCA-BR 10 45949605 45949605 single base substitution G A downstream_gene_variant SKCA-BR 10 45953999 45953999 single base substitution G A downstream_gene_variant SKCA-BR 10 45953999 45953999 single base substitution G A intron_variant SKCA-BR 10 45956135 45956135 single base substitution G A downstream_gene_variant SKCA-BR 10 45956135 45956135 single base substitution G A intron_variant SKCA-BR 10 45956819 45956819 single base substitution T G downstream_gene_variant SKCA-BR 10 45956819 45956819 single base substitution T G exon_variant SKCA-BR 10 45956819 45956819 single base substitution T G missense_variant T377P 1129A>C SKCA-BR 10 45956819 45956819 single base substitution T G missense_variant T95P 283A>C SKCA-BR 10 45957601 45957601 single base substitution G T exon_variant SKCA-BR 10 45957601 45957601 single base substitution G T intron_variant SKCA-BR 10 45958125 45958125 single base substitution G A intron_variant SKCA-BR 10 45958125 45958125 single base substitution G A upstream_gene_variant SKCA-BR 10 45958177 45958177 single base substitution A G intron_variant SKCA-BR 10 45958177 45958177 single base substitution A G upstream_gene_variant SKCA-BR 10 45958353 45958353 single base substitution C T intron_variant SKCA-BR 10 45958353 45958353 single base substitution C T upstream_gene_variant SKCA-BR 10 45958676 45958676 single base substitution G A intron_variant SKCA-BR 10 45958676 45958676 single base substitution G A synonymous_variant S337S 1011C>T SKCA-BR 10 45958676 45958676 single base substitution G A upstream_gene_variant SKCA-BR 10 45959765 45959765 single base substitution G A exon_variant SKCA-BR 10 45959765 45959765 single base substitution G A missense_variant P55L 164C>T SKCA-BR 10 45959765 45959765 single base substitution G A upstream_gene_variant SKCA-BR 10 45964188 45964188 single base substitution G A intron_variant SKCA-BR 10 45971613 45971613 single base substitution G A intron_variant SKCA-BR 10 45972629 45972629 single base substitution G A intron_variant SKCA-BR 10 45974016 45974016 insertion of <=200bp - TAA intron_variant SKCA-BR 10 45974226 45974226 single base substitution G A intron_variant SKCA-BR 10 45974331 45974331 single base substitution G A intron_variant SKCA-BR 10 45976001 45976001 single base substitution T C intron_variant SKCA-BR 10 45985919 45985919 single base substitution G A intron_variant SKCA-BR 10 45986188 45986188 single base substitution G A intron_variant SKCA-BR 10 45989095 45989095 single base substitution G A intron_variant SKCA-BR 10 45995068 45995068 single base substitution C T intron_variant SKCA-BR 10 45995314 45995314 single base substitution A C intron_variant SKCA-BR 10 45995828 45995828 single base substitution A C intron_variant SKCA-BR 10 45998984 45998984 insertion of <=200bp - CAAAT intron_variant SKCA-BR 10 46001055 46001055 single base substitution C A intron_variant SKCA-BR 10 46002223 46002223 single base substitution G A intron_variant SKCA-BR 10 46005269 46005269 single base substitution T C intron_variant SKCA-BR 10 46007120 46007120 single base substitution G A intron_variant SKCA-BR 10 46007533 46007533 single base substitution C T intron_variant SKCA-BR 10 46007551 46007551 single base substitution C T intron_variant SKCA-BR 10 46012021 46012021 single base substitution G A intron_variant SKCA-BR 10 46012296 46012296 single base substitution C T intron_variant SKCA-BR 10 46013975 46013975 single base substitution A G intron_variant SKCA-BR 10 46015681 46015681 single base substitution G A intron_variant SKCA-BR 10 46028056 46028056 single base substitution G A intron_variant SKCA-BR 10 46030738 46030738 single base substitution C T 5_prime_UTR_variant SKCA-BR 10 46030738 46030738 single base substitution C T intron_variant SKCA-BR 10 46032283 46032286 deletion of <=200bp AAAT - intron_variant SKCA-BR 10 46032283 46032286 deletion of <=200bp AAAT - upstream_gene_variant SKCA-BR 10 46034854 46034854 single base substitution G A intron_variant SKCA-BR 10 46034854 46034854 single base substitution G A upstream_gene_variant SKCA-BR 10 46037793 46037795 deletion of <=200bp CAA - intron_variant SKCA-BR 10 46039999 46039999 single base substitution C A intron_variant SKCA-BR 10 46041280 46041280 single base substitution T C intron_variant SKCA-BR 10 46041586 46041586 insertion of <=200bp - TTTTA intron_variant SKCA-BR 10 46044053 46044053 single base substitution G A intron_variant SKCA-BR 10 46044419 46044419 single base substitution G A intron_variant SKCA-BR 10 46044551 46044551 single base substitution G A intron_variant SKCA-BR 10 46050798 46050798 single base substitution G A intron_variant SKCA-BR 10 46051029 46051029 single base substitution G A intron_variant SKCA-BR 10 46063291 46063291 single base substitution G A intron_variant SKCA-BR 10 46064564 46064564 single base substitution T C intron_variant SKCA-BR 10 46068513 46068513 single base substitution G A intron_variant SKCA-BR 10 46071820 46071820 single base substitution G A intron_variant SKCA-BR 10 46072220 46072220 insertion of <=200bp - TA intron_variant SKCA-BR 10 46073421 46073421 single base substitution G A intron_variant SKCA-BR 10 46075436 46075436 single base substitution G A intron_variant SKCA-BR 10 46076851 46076851 single base substitution G A intron_variant SKCA-BR 10 46077405 46077405 single base substitution G A intron_variant SKCA-BR 10 46082760 46082760 single base substitution G A intron_variant SKCA-BR 10 46085876 46085876 single base substitution G A downstream_gene_variant SKCA-BR 10 46085876 46085876 single base substitution G A intron_variant SKCA-BR 10 46087809 46087809 single base substitution T A downstream_gene_variant SKCA-BR 10 46087809 46087809 single base substitution T A intron_variant SKCA-BR 10 46090051 46090056 deletion of <=200bp ACCCAG - 5_prime_UTR_variant SKCA-BR 10 46090051 46090056 deletion of <=200bp ACCCAG - upstream_gene_variant SKCA-BR 10 46091976 46091976 single base substitution A C upstream_gene_variant SKCA-BR 10 46092366 46092366 single base substitution C T upstream_gene_variant SKCA-BR 10 46092545 46092545 insertion of <=200bp - AG upstream_gene_variant SKCA-BR 10 46094204 46094204 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 10 46094783 46094783 single base substitution G A upstream_gene_variant SKCA-BR 10 46095287 46095287 single base substitution G A upstream_gene_variant SKCM-US 10 45953750 45953750 single base substitution G A downstream_gene_variant SKCM-US 10 45953750 45953750 single base substitution G A exon_variant SKCM-US 10 45953750 45953750 single base substitution G A synonymous_variant S271S 813C>T SKCM-US 10 45953750 45953750 single base substitution G A synonymous_variant S553S 1659C>T SKCM-US 10 45953816 45953816 single base substitution A C downstream_gene_variant SKCM-US 10 45953816 45953816 single base substitution A C exon_variant SKCM-US 10 45953816 45953816 single base substitution A C missense_variant I249M 747T>G SKCM-US 10 45953816 45953816 single base substitution A C missense_variant I531M 1593T>G SKCM-US 10 45954714 45954714 single base substitution C T downstream_gene_variant SKCM-US 10 45954714 45954714 single base substitution C T splice_region_variant SKCM-US 10 45954714 45954714 single base substitution C T stop_gained W142* 425G>A SKCM-US 10 45954714 45954714 single base substitution C T stop_gained W424* 1271G>A STAD-US 10 45954591 45954591 single base substitution T C downstream_gene_variant STAD-US 10 45954591 45954591 single base substitution T C exon_variant STAD-US 10 45954591 45954591 single base substitution T C missense_variant E183G 548A>G STAD-US 10 45954591 45954591 single base substitution T C missense_variant E465G 1394A>G STAD-US 10 45956826 45956826 single base substitution G T downstream_gene_variant STAD-US 10 45956826 45956826 single base substitution G T exon_variant STAD-US 10 45956826 45956826 single base substitution G T synonymous_variant P374P 1122C>A STAD-US 10 45956826 45956826 single base substitution G T synonymous_variant P92P 276C>A THCA-SA 10 45953767 45953767 single base substitution A G downstream_gene_variant THCA-SA 10 45953767 45953767 single base substitution A G exon_variant THCA-SA 10 45953767 45953767 single base substitution A G missense_variant Y266H 796T>C THCA-SA 10 45953767 45953767 single base substitution A G missense_variant Y548H 1642T>C THCA-US 10 45954618 45954618 single base substitution T C downstream_gene_variant THCA-US 10 45954618 45954618 single base substitution T C exon_variant THCA-US 10 45954618 45954618 single base substitution T C missense_variant Y174C 521A>G THCA-US 10 45954618 45954618 single base substitution T C missense_variant Y456C 1367A>G UCEC-US 10 45953693 45953693 deletion of <=200bp G - downstream_gene_variant UCEC-US 10 45953693 45953693 deletion of <=200bp G - exon_variant UCEC-US 10 45953693 45953693 deletion of <=200bp G - frameshift_variant H290 UCEC-US 10 45953693 45953693 deletion of <=200bp G - frameshift_variant H572 UCEC-US 10 45953942 45953942 single base substitution G A downstream_gene_variant UCEC-US 10 45953942 45953942 single base substitution G A exon_variant UCEC-US 10 45953942 45953942 single base substitution G A synonymous_variant G207G 621C>T UCEC-US 10 45953942 45953942 single base substitution G A synonymous_variant G489G 1467C>T UCEC-US 10 45959711 45959711 single base substitution G A exon_variant UCEC-US 10 45959711 45959711 single base substitution G A missense_variant T73M 218C>T UCEC-US 10 45959711 45959711 single base substitution G A upstream_gene_variant UCEC-US 10 45959741 45959741 single base substitution G A exon_variant UCEC-US 10 45959741 45959741 single base substitution G A missense_variant P63L 188C>T UCEC-US 10 45959741 45959741 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PD11368a COSM5786331 c.47C>G p.A16G Substitution - Missense 10:45533165-45533165 - 2275_T COSM3978522 c.794G>T p.G265V Substitution - Missense 10:45458321-45458321 - 61 COSM5738876 c.628G>A p.G210R Substitution - Missense 10:45458487-45458487 - TCGA-BP-4968-01 COSM465659 c.222A>T p.P74P Substitution - coding silent 10:45464259-45464259 - RMS85_ COSM4988266 c.274C>T p.P92S Substitution - Missense 10:45461380-45461380 - TCGA-A5-A0GW-01 COSM918284 c.188C>T p.P63L Substitution - Missense 10:45464293-45464293 - RMS77_ COSM4988266 c.274C>T p.P92S Substitution - Missense 10:45461380-45461380 - STC297 COSM5050192 c.168G>A p.P56P Substitution - coding silent 10:45464313-45464313 - CCK81 COSM1957822 c.806G>A p.C269Y Substitution - Missense 10:45458309-45458309 - YUKAT COSM5370656 c.208A>G p.T70A Substitution - Missense 10:45464273-45464273 - CHC429T COSM3666742 c.282C>T p.I94I Substitution - coding silent 10:45461372-45461372 - CN-AML-CR-17-Dx COSM4988266 c.274C>T p.P92S Substitution - Missense 10:45461380-45461380 - RMS88_ COSM4988266 c.274C>T p.P92S Substitution - Missense 10:45461380-45461380 - TCGA-FW-A3R5-06 COSM3867230 c.813C>T p.S271S Substitution - coding silent 10:45458302-45458302 - 438 COSM4434210 c.207C>T p.R69R Substitution - coding silent 10:45464274-45464274 - LUAD-S01357 COSM386269 c.494C>T p.A165V Substitution - Missense 10:45459197-45459197 - TCGA-66-2767-01 COSM684262 c.727G>T p.E243* Substitution - Nonsense 10:45458388-45458388 - Pat_60_A COSM5836901 c.685_687delCTC p.L229delL Deletion - In frame 10:45458428-45458430 - Pat_60_B COSM5836901 c.685_687delCTC p.L229delL Deletion - In frame 10:45458428-45458430 - BD130T COSM5516020 c.571+10C>T p.? Unknown 10:45459110-45459110 - LUAD-CHTN-MAD08-00104 COSM361113 c.616A>T p.I206F Substitution - Missense 10:45458499-45458499 - CHC429T COSM3666742 c.282C>T p.I94I Substitution - coding silent 10:45461372-45461372 - T17 COSM4988266 c.274C>T p.P92S Substitution - Missense 10:45461380-45461380 - Patient_2 COSM5044533 c.652C>T p.Q218* Substitution - Nonsense 10:45458463-45458463 - TCGA-D5-6928-01 COSM1347878 c.5G>A p.S2N Substitution - Missense 10:45533207-45533207 - TCGA-EW-A1IW-01 COSM1474617 c.348G>A p.K116K Substitution - coding silent 10:45461306-45461306 - pfg099T COSM4754264 c.70A>G p.S24G Substitution - Missense 10:45533142-45533142 - TCGA-D1-A0ZZ-01 COSM918281 c.870delC p.H290fs*>2 Deletion - Frameshift 10:45458245-45458245 - TCGA-AP-A051-01 COSM918282 c.621C>T p.G207G Substitution - coding silent 10:45458494-45458494 - 587224 COSM1214566 c.249C>A p.C83* Substitution - Nonsense 10:45461405-45461405 - TCGA-F5-6814-01 COSM282674 c.370G>A p.E124K Substitution - Missense 10:45461284-45461284 - TCGA-B0-5098-01 COSM1492233 c.723T>C p.C241C Substitution - coding silent 10:45458392-45458392 - HCC135T COSM3665739 c.214A>G p.I72V Substitution - Missense 10:45464267-45464267 - Case5c COSM1717280 c.407T>C p.L136P Substitution - Missense 10:45461247-45461247 - SNUH_G16_S1 COSM3997971 c.796T>C p.Y266H Substitution - Missense 10:45458319-45458319 - tumor_4184094 COSM3356113 c.585G>C p.W195C Substitution - Missense 10:45458530-45458530 - S02376 COSM5696845 c.552C>A p.I184I Substitution - coding silent 10:45459139-45459139 - SW620 COSM1957825 c.687C>T p.L229L Substitution - coding silent 10:45458428-45458428 - S02344 COSM5693289 c.265G>C p.D89H Substitution - Missense 10:45461389-45461389 - TCGA-EE-A3JD-06 COSM4395808 c.747T>G p.I249M Substitution - Missense 10:45458368-45458368 - ESCC-129T COSM3935063 c.295T>A p.C99S Substitution - Missense 10:45461359-45461359 - STC232 COSM5050190 c.455G>A p.R152H Substitution - Missense 10:45459236-45459236 - T636 COSM4700698 c.559G>A p.G187R Substitution - Missense 10:45459132-45459132 - TCGA-AC-A2FG-01 COSM3807205 c.361C>T p.R121C Substitution - Missense 10:45461293-45461293 - QC2-39-T2 COSM5655635 c.154G>T p.A52S Substitution - Missense 10:45464327-45464327 - BN24 COSM1603462 c.423+4C>T p.? Unknown 10:45461227-45461227 - PDA_074 COSM3997971 c.796T>C p.Y266H Substitution - Missense 10:45458319-45458319 - 587238 COSM1214565 c.257A>G p.E86G Substitution - Missense 10:45461397-45461397 - TCGA-FK-A3SG-01 COSM3368047 c.521A>G p.Y174C Substitution - Missense 10:45459170-45459170 - HCC135 COSM3665739 c.214A>G p.I72V Substitution - Missense 10:45464267-45464267 - CSCC-29-T COSM4498290 c.516C>T p.S172S Substitution - coding silent 10:45459175-45459175 - TCGA-A6-6781-01 COSM1347877 c.487G>A p.V163I Substitution - Missense 10:45459204-45459204 - ESO-177 COSM1243789 c.20A>G p.Q7R Substitution - Missense 10:45533192-45533192 - TCGA-BR-6458-01 COSM4014270 c.548A>G p.E183G Substitution - Missense 10:45459143-45459143 - C086 COSM5525922 c.827C>T p.S276F Substitution - Missense 10:45458288-45458288 - PT46 COSM5929199 c.167C>T p.P56L Substitution - Missense 10:45464314-45464314 - TCGA-AA-A010-01 COSM282673 c.804C>A p.I268I Substitution - coding silent 10:45458311-45458311 - PT46 COSM5929200 c.166C>T p.P56S Substitution - Missense 10:45464315-45464315 - 587278 COSM1214567 c.361C>G p.R121G Substitution - Missense 10:45461293-45461293 - TCGA-D1-A17U-01 COSM918283 c.218C>T p.T73M Substitution - Missense 10:45464263-45464263 - I2L-P19Tb-Tumor-Organoid COSM5050192 c.168G>A p.P56P Substitution - coding silent 10:45464313-45464313 - NCI-H727 COSM1957832 c.287C>G p.P96R Substitution - Missense 10:45461367-45461367 - TCGA-BR-4201-01 COSM4014271 c.276C>A p.P92P Substitution - coding silent 10:45461378-45461378 - ESCC_BICR_030T COSM5429296 c.103-1G>C p.? Unknown 10:45489418-45489418 - ZZUFHECRKL-G067T COSM5438567 c.624C>T p.F208F Substitution - coding silent 10:45458491-45458491 - TCGA-AA-A010-01 COSM282674 c.370G>A p.E124K Substitution - Missense 10:45461284-45461284 - LUAD-NYU201 COSM371247 c.628G>T p.G210* Substitution - Nonsense 10:45458487-45458487 - LUAD-RT-S01721 COSM380311 c.59G>T p.R20I Substitution - Missense 10:45533153-45533153 - CSCC-56-T COSM4489607 c.34C>T p.P12S Substitution - Missense 10:45533178-45533178 - TCGA-DC-4749-01 COSM1957857 c.219G>A p.T73T Substitution - coding silent 10:45464262-45464262 - PT45 COSM5927596 c.423+3A>G p.? Unknown 10:45461228-45461228 - TCGA-18-3409-01 COSM684261 c.190G>A p.V64M Substitution - Missense 10:45464291-45464291 - BN24T COSM1603462 c.423+4C>T p.? Unknown 10:45461227-45461227 - TCGA-EB-A57M-01 COSM3437925 c.425G>A p.W142* Substitution - Nonsense 10:45459266-45459266 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.499441;Hs.499453;Hs.499484;Hs.499489 10q11.21 613335

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I249M c.747T>G 10 45953816 CM C A IntronicSNV . c.243-99G>T 10 45956958 CM C A Nonsense p.E243* c.727G>T 10 45953836 LUSC C A Nonsense p.G267* c.799G>T 10 45953764 LUAD CATTATATTATAT - IntronicDeletion . c.1-37389_1-37377delATATAATATAATG 10 46066036 CLL C T Synonymous p.K116K c.348G>A 10 45956754 BRCA G A 3-UTRSNV . c.873+131C>T 10 45953559 RCCC G A Missense p.P63L c.188C>T 10 45959741 UCEC G A Missense p.S118F c.353C>T 10 45956749 HNSC G A Missense p.S118F c.353C>T 10 45956749 LUAD G A Missense p.T73M c.218C>T 10 45959711 UCEC G A Synonymous p.S271S c.813C>T 10 45953750 CM G C IntronicSNV . c.243-71C>G 10 45956930 RCCC G - Frameshift p.H290Qfs*19 c.870delC 10 45953693 UCEC G T Synonymous p.P92P c.276C>A 10 45956826 STAD T A Synonymous p.P74P c.222A>T 10 45959707 RCCC TCAAAAAAAAA - IntronicDeletion . c.1-9143_1-9133delTTTTTTTTTGA 10 46037792 CLL T C Missense p.E183G c.548A>G 10 45954591 STAD T C Missense p.K29E c.85A>G 10 46028575 COREAD T C Missense p.Q7R c.20A>G 10 46028640 ESCA T C Missense p.Y174C c.521A>G 10 45954618 THCA T C Missense p.Y216C c.647A>G 10 45953916 LUAD