Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 58392925 58392925 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr2:58392925C>T c.625G>A c.(625-627)Gag>Aag p.E209K BLCA 2 58425731 58425731 + Nonsense_Mutation SNP G G A TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr2:58425731G>A c.538C>T c.(538-540)Cag>Tag p.Q180* BLCA 2 58431328 58431328 + Missense_Mutation SNP G G C TCGA-FD-A6TD-01A-51D-A339-08 TCGA-FD-A6TD-10A-21D-A339-08 g.chr2:58431328G>C c.408C>G c.(406-408)atC>atG p.I136M BLCA 2 58468439 58468439 + Missense_Mutation SNP T T A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr2:58468439T>A c.10A>T c.(10-12)Acg>Tcg p.T4S BRCA 2 58456952 58456952 + Missense_Mutation SNP T T A TCGA-A8-A07B-01A-11W-A019-09 TCGA-A8-A07B-10A-01W-A021-09 g.chr2:58456952T>A c.213A>T c.(211-213)caA>caT p.Q71H BRCA 2 58457010 58457010 + Splice_Site SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:58457010C>G c.e3-1 CESC 2 58388716 58388716 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 g.chr2:58388716C>T c.961G>A c.(961-963)Gat>Aat p.D321N CESC 2 58390039 58390039 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr2:58390039C>G c.865G>C c.(865-867)Gaa>Caa p.E289Q COAD 2 58386920 58386920 + Frame_Shift_Del DEL T T - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:58386920delT c.1108delA c.(1108-1110)atgfs p.M370fs COAD 2 58386920 58386920 + Frame_Shift_Del DEL T T - TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr2:58386920delT c.1108delA c.(1108-1110)atgfs p.M370fs COAD 2 58386929 58386929 + Missense_Mutation SNP T T G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr2:58386929T>G c.1099A>C c.(1099-1101)Acc>Ccc p.T367P COAD 2 58388663 58388663 + Silent SNP T T C TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chr2:58388663T>C c.1014A>G c.(1012-1014)ttA>ttG p.L338L COAD 2 58390068 58390068 + Missense_Mutation SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr2:58390068C>T c.836G>A c.(835-837)aGt>aAt p.S279N COAD 2 58392928 58392928 + Missense_Mutation SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr2:58392928C>T c.622G>A c.(622-624)Gat>Aat p.D208N COAD 2 58392929 58392929 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:58392929G>A c.621C>T c.(619-621)atC>atT p.I207I COAD 2 58449123 58449123 + Missense_Mutation SNP A A G TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr2:58449123A>G c.328T>C c.(328-330)Ttc>Ctc p.F110L COAD 2 58456962 58456962 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:58456962C>T c.203G>A c.(202-204)cGa>cAa p.R68Q COAD 2 58459207 58459207 + Missense_Mutation SNP A A G TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:58459207A>G c.137T>C c.(136-138)tTa>tCa p.L46S COAD 2 58468420 58468420 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:58468420C>T c.29G>A c.(28-30)cGc>cAc p.R10H COADREAD 2 58386920 58386920 + Frame_Shift_Del DEL T T - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:58386920delT c.1108delA c.(1108-1110)atgfs p.M370fs COADREAD 2 58386920 58386920 + Frame_Shift_Del DEL T T - TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr2:58386920delT c.1108delA c.(1108-1110)atgfs p.M370fs COADREAD 2 58386929 58386929 + Missense_Mutation SNP T T G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr2:58386929T>G c.1099A>C c.(1099-1101)Acc>Ccc p.T367P COADREAD 2 58388663 58388663 + Silent SNP T T C TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chr2:58388663T>C c.1014A>G c.(1012-1014)ttA>ttG p.L338L COADREAD 2 58388666 58388666 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:58388666G>A c.1011C>T c.(1009-1011)tgC>tgT p.C337C COADREAD 2 58390068 58390068 + Missense_Mutation SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr2:58390068C>T c.836G>A c.(835-837)aGt>aAt p.S279N COADREAD 2 58392928 58392928 + Missense_Mutation SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr2:58392928C>T c.622G>A c.(622-624)Gat>Aat p.D208N COADREAD 2 58392929 58392929 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:58392929G>A c.621C>T c.(619-621)atC>atT p.I207I COADREAD 2 58449123 58449123 + Missense_Mutation SNP A A G TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr2:58449123A>G c.328T>C c.(328-330)Ttc>Ctc p.F110L COADREAD 2 58456962 58456962 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:58456962C>T c.203G>A c.(202-204)cGa>cAa p.R68Q COADREAD 2 58459207 58459207 + Missense_Mutation SNP A A G TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:58459207A>G c.137T>C c.(136-138)tTa>tCa p.L46S COADREAD 2 58468420 58468420 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:58468420C>T c.29G>A c.(28-30)cGc>cAc p.R10H DLBC 2 58459217 58459217 + Missense_Mutation SNP G G A TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr2:58459217G>A c.127C>T c.(127-129)Cct>Tct p.P43S GBMLGG 2 58388666 58388666 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:58388666G>A c.1011C>T c.(1009-1011)tgC>tgT p.C337C HNSC 2 58388752 58388752 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr2:58388752T>C c.925A>G c.(925-927)Att>Gtt p.I309V HNSC 2 58388764 58388764 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 g.chr2:58388764T>C c.913A>G c.(913-915)Atg>Gtg p.M305V HNSC 2 58392999 58392999 + Missense_Mutation SNP A A G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 g.chr2:58392999A>G c.551T>C c.(550-552)aTa>aCa p.I184T HNSC 2 58431263 58431263 + Splice_Site SNP A A T TCGA-CV-7446-01A-11D-2229-08 TCGA-CV-7446-10A-01D-2229-08 g.chr2:58431263A>T c.e6+1 KIPAN 2 58425781 58425781 + Missense_Mutation SNP G G A TCGA-SX-A71U-01A-12D-A33Q-10 TCGA-SX-A71U-10A-01D-A33Q-10 g.chr2:58425781G>A c.488C>T c.(487-489)cCa>cTa p.P163L KIPAN 2 58431304 58431304 + Silent SNP A A G TCGA-B9-5156-01A-01D-1589-08 TCGA-B9-5156-10A-01D-1589-08 g.chr2:58431304A>G c.432T>C c.(430-432)tcT>tcC p.S144S KIRP 2 58425781 58425781 + Missense_Mutation SNP G G A TCGA-SX-A71U-01A-12D-A33Q-10 TCGA-SX-A71U-10A-01D-A33Q-10 g.chr2:58425781G>A c.488C>T c.(487-489)cCa>cTa p.P163L KIRP 2 58431304 58431304 + Silent SNP A A G TCGA-B9-5156-01A-01D-1589-08 TCGA-B9-5156-10A-01D-1589-08 g.chr2:58431304A>G c.432T>C c.(430-432)tcT>tcC p.S144S LGG 2 58388666 58388666 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:58388666G>A c.1011C>T c.(1009-1011)tgC>tgT p.C337C LUAD 2 58387257 58387257 + Missense_Mutation SNP G G C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 g.chr2:58387257G>C c.1078C>G c.(1078-1080)Cca>Gca p.P360A LUAD 2 58425717 58425717 + Intron SNP A A T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr2:58425717A>T LUAD 2 58431271 58431271 + Silent SNP C C T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr2:58431271C>T c.465G>A c.(463-465)aaG>aaA p.K155K LUAD 2 58449124 58449124 + Missense_Mutation SNP C C A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 g.chr2:58449124C>A c.327G>T c.(325-327)caG>caT p.Q109H LUAD 2 58449132 58449132 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr2:58449132G>A c.319C>T c.(319-321)Cct>Tct p.P107S LUAD 2 58468386 58468386 + Silent SNP C C A TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr2:58468386C>A c.63G>T c.(61-63)tcG>tcT p.S21S LUSC 2 58392929 58392929 + Silent SNP G G T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 g.chr2:58392929G>T c.621C>A c.(619-621)atC>atA p.I207I LUSC 2 58425768 58425768 + Silent SNP C C A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 g.chr2:58425768C>A c.501G>T c.(499-501)gtG>gtT p.V167V LUSC 2 58459241 58459241 + Missense_Mutation SNP C C A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 g.chr2:58459241C>A c.103G>T c.(103-105)Gac>Tac p.D35Y OV 2 58386928 58386928 + Missense_Mutation SNP G G A TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 g.chr2:58386928G>A c.1100C>T c.(1099-1101)aCc>aTc p.T367I OV 2 58449122 58449122 + Missense_Mutation SNP A A G TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 g.chr2:58449122A>G c.329T>C c.(328-330)tTc>tCc p.F110S READ 2 58388666 58388666 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:58388666G>A c.1011C>T c.(1009-1011)tgC>tgT p.C337C SKCM 2 58390196 58390196 + Silent SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr2:58390196C>T c.789G>A c.(787-789)ctG>ctA p.L263L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 2 58386778 58386778 single base substitution A G 3_prime_UTR_variant ALL-US 2 58386778 58386778 single base substitution A G downstream_gene_variant BLCA-CN 2 58392901 58392901 single base substitution C T 3_prime_UTR_variant BLCA-CN 2 58392901 58392901 single base substitution C T exon_variant BLCA-CN 2 58392901 58392901 single base substitution C T missense_variant E100K 298G>A BLCA-CN 2 58392901 58392901 single base substitution C T missense_variant E105K 313G>A BLCA-CN 2 58392901 58392901 single base substitution C T missense_variant E158K 472G>A BLCA-CN 2 58392901 58392901 single base substitution C T missense_variant E217K 649G>A BLCA-CN 2 58392901 58392901 single base substitution C T missense_variant E222K 664G>A BLCA-CN 2 58392901 58392901 single base substitution C T missense_variant E231K 691G>A BLCA-CN 2 58392901 58392901 single base substitution C T missense_variant E69K 205G>A BLCA-CN 2 58431265 58431265 single base substitution C T intron_variant BLCA-CN 2 58431265 58431265 single base substitution C T splice_region_variant BOCA-FR 2 58386211 58386211 single base substitution T G downstream_gene_variant BOCA-FR 2 58387238 58387238 single base substitution C G downstream_gene_variant BOCA-FR 2 58387238 58387238 single base substitution C G splice_region_variant BRCA-EU 2 58381989 58381989 single base substitution C A downstream_gene_variant BRCA-EU 2 58382850 58382850 single base substitution C T downstream_gene_variant BRCA-EU 2 58383502 58383502 single base substitution G T downstream_gene_variant BRCA-EU 2 58384209 58384209 single base substitution T A downstream_gene_variant BRCA-EU 2 58384476 58384476 single base substitution G A downstream_gene_variant BRCA-EU 2 58385141 58385141 single base substitution G C downstream_gene_variant BRCA-EU 2 58385941 58385941 single base substitution C T downstream_gene_variant BRCA-EU 2 58385961 58385961 single base substitution C T downstream_gene_variant BRCA-EU 2 58386296 58386296 single base substitution A T downstream_gene_variant BRCA-EU 2 58386408 58386408 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 58386408 58386408 single base substitution C G downstream_gene_variant BRCA-EU 2 58386635 58386635 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 58386635 58386635 single base substitution C G downstream_gene_variant BRCA-EU 2 58390172 58390172 single base substitution T C downstream_gene_variant BRCA-EU 2 58390172 58390172 single base substitution T C exon_variant BRCA-EU 2 58390172 58390172 single base substitution T C missense_variant I123M 369A>G BRCA-EU 2 58390172 58390172 single base substitution T C missense_variant I154M 462A>G BRCA-EU 2 58390172 58390172 single base substitution T C missense_variant I212M 636A>G BRCA-EU 2 58390172 58390172 single base substitution T C missense_variant I243M 729A>G BRCA-EU 2 58390172 58390172 single base substitution T C missense_variant I271M 813A>G BRCA-EU 2 58390172 58390172 single base substitution T C missense_variant I276M 828A>G BRCA-EU 2 58390172 58390172 single base substitution T C missense_variant I285M 855A>G BRCA-EU 2 58390456 58390456 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 58390456 58390456 single base substitution C T downstream_gene_variant BRCA-EU 2 58390456 58390456 single base substitution C T exon_variant BRCA-EU 2 58390456 58390456 single base substitution C T intron_variant BRCA-EU 2 58390823 58390823 single base substitution T A intron_variant BRCA-EU 2 58392244 58392244 single base substitution C T intron_variant BRCA-EU 2 58395249 58395249 single base substitution A G intron_variant BRCA-EU 2 58395249 58395249 single base substitution A G upstream_gene_variant BRCA-EU 2 58396255 58396255 single base substitution C T intron_variant BRCA-EU 2 58396255 58396255 single base substitution C T upstream_gene_variant BRCA-EU 2 58397600 58397600 single base substitution G T intron_variant BRCA-EU 2 58397600 58397600 single base substitution G T upstream_gene_variant BRCA-EU 2 58398212 58398212 single base substitution C T intron_variant BRCA-EU 2 58399009 58399009 single base substitution G A intron_variant BRCA-EU 2 58399862 58399862 single base substitution C T intron_variant BRCA-EU 2 58401681 58401681 insertion of <=200bp - C intron_variant BRCA-EU 2 58404150 58404150 single base substitution G C intron_variant BRCA-EU 2 58404744 58404744 single base substitution C A intron_variant BRCA-EU 2 58405773 58405773 deletion of <=200bp A - intron_variant BRCA-EU 2 58405911 58405911 single base substitution G C intron_variant BRCA-EU 2 58407454 58407454 single base substitution C A intron_variant BRCA-EU 2 58408099 58408099 single base substitution A G intron_variant BRCA-EU 2 58408649 58408649 single base substitution T G intron_variant BRCA-EU 2 58409148 58409148 single base substitution G C intron_variant BRCA-EU 2 58410032 58410032 single base substitution C G intron_variant BRCA-EU 2 58410464 58410464 deletion of <=200bp A - intron_variant BRCA-EU 2 58410873 58410873 single base substitution C T intron_variant BRCA-EU 2 58411421 58411421 single base substitution G A intron_variant BRCA-EU 2 58412125 58412125 single base substitution T C intron_variant BRCA-EU 2 58414586 58414586 single base substitution G A intron_variant BRCA-EU 2 58414719 58414719 single base substitution T C intron_variant BRCA-EU 2 58414768 58414768 single base substitution A G intron_variant BRCA-EU 2 58415118 58415118 single base substitution C G intron_variant BRCA-EU 2 58415262 58415262 single base substitution G C intron_variant BRCA-EU 2 58415372 58415372 single base substitution A C intron_variant BRCA-EU 2 58415646 58415646 single base substitution C G intron_variant BRCA-EU 2 58415804 58415804 single base substitution G C intron_variant BRCA-EU 2 58418513 58418513 single base substitution T A intron_variant BRCA-EU 2 58419120 58419120 single base substitution A T intron_variant BRCA-EU 2 58421426 58421426 single base substitution C T intron_variant BRCA-EU 2 58421760 58421760 single base substitution C G intron_variant BRCA-EU 2 58421843 58421843 single base substitution G A intron_variant BRCA-EU 2 58422169 58422169 single base substitution G A intron_variant BRCA-EU 2 58422775 58422775 single base substitution T C intron_variant BRCA-EU 2 58423371 58423371 single base substitution G C intron_variant BRCA-EU 2 58424549 58424549 single base substitution G A intron_variant BRCA-EU 2 58426397 58426397 single base substitution G C intron_variant BRCA-EU 2 58426473 58426473 single base substitution G T intron_variant BRCA-EU 2 58427033 58427033 single base substitution G A intron_variant BRCA-EU 2 58427708 58427708 single base substitution C T intron_variant BRCA-EU 2 58428509 58428509 deletion of <=200bp A - intron_variant BRCA-EU 2 58428696 58428696 single base substitution C T intron_variant BRCA-EU 2 58429743 58429743 single base substitution G C intron_variant BRCA-EU 2 58430418 58430418 single base substitution G C intron_variant BRCA-EU 2 58430522 58430522 single base substitution T C intron_variant BRCA-EU 2 58430664 58430664 single base substitution T G intron_variant BRCA-EU 2 58430754 58430754 single base substitution G C intron_variant BRCA-EU 2 58436053 58436053 single base substitution G C downstream_gene_variant BRCA-EU 2 58436053 58436053 single base substitution G C intron_variant BRCA-EU 2 58437536 58437536 single base substitution C T downstream_gene_variant BRCA-EU 2 58437536 58437536 single base substitution C T intron_variant BRCA-EU 2 58437655 58437655 single base substitution A C downstream_gene_variant BRCA-EU 2 58437655 58437655 single base substitution A C intron_variant BRCA-EU 2 58439685 58439685 single base substitution G C downstream_gene_variant BRCA-EU 2 58439685 58439685 single base substitution G C intron_variant BRCA-EU 2 58441101 58441101 single base substitution C A intron_variant BRCA-EU 2 58444008 58444008 single base substitution G A intron_variant BRCA-EU 2 58444753 58444753 single base substitution A G intron_variant BRCA-EU 2 58447935 58447935 single base substitution G T intron_variant BRCA-EU 2 58448054 58448054 single base substitution A C intron_variant BRCA-EU 2 58448119 58448119 single base substitution G A intron_variant BRCA-EU 2 58450383 58450383 single base substitution T C intron_variant BRCA-EU 2 58451759 58451759 single base substitution C T intron_variant BRCA-EU 2 58452424 58452424 single base substitution A T intron_variant BRCA-EU 2 58452692 58452706 deletion of <=200bp AATCTTAAATTTACT - intron_variant BRCA-EU 2 58452956 58452956 single base substitution A C intron_variant BRCA-EU 2 58453213 58453213 single base substitution A T intron_variant BRCA-EU 2 58455673 58455673 single base substitution C T intron_variant BRCA-EU 2 58455918 58455918 single base substitution G T intron_variant BRCA-EU 2 58456415 58456415 deletion of <=200bp T - intron_variant BRCA-EU 2 58460947 58460947 single base substitution C T intron_variant BRCA-EU 2 58460947 58460947 single base substitution C T upstream_gene_variant BRCA-EU 2 58462022 58462022 single base substitution C T intron_variant BRCA-EU 2 58463748 58463748 single base substitution G C intron_variant BRCA-EU 2 58465566 58465566 single base substitution G T intron_variant BRCA-EU 2 58465747 58465747 single base substitution G C intron_variant BRCA-EU 2 58468695 58468695 single base substitution G A upstream_gene_variant BRCA-EU 2 58469354 58469354 single base substitution G C upstream_gene_variant BRCA-EU 2 58470326 58470326 single base substitution A T upstream_gene_variant BRCA-EU 2 58470453 58470453 single base substitution G T upstream_gene_variant BRCA-EU 2 58471414 58471414 single base substitution T G upstream_gene_variant BRCA-EU 2 58472910 58472910 single base substitution C A upstream_gene_variant BRCA-EU 2 58473148 58473148 single base substitution G A upstream_gene_variant BRCA-EU 2 58473290 58473290 single base substitution C T upstream_gene_variant BRCA-FR 2 58384209 58384209 single base substitution T A downstream_gene_variant BRCA-FR 2 58390172 58390172 single base substitution T C downstream_gene_variant BRCA-FR 2 58390172 58390172 single base substitution T C exon_variant BRCA-FR 2 58390172 58390172 single base substitution T C missense_variant I123M 369A>G BRCA-FR 2 58390172 58390172 single base substitution T C missense_variant I154M 462A>G BRCA-FR 2 58390172 58390172 single base substitution T C missense_variant I212M 636A>G BRCA-FR 2 58390172 58390172 single base substitution T C missense_variant I243M 729A>G BRCA-FR 2 58390172 58390172 single base substitution T C missense_variant I271M 813A>G BRCA-FR 2 58390172 58390172 single base substitution T C missense_variant I276M 828A>G BRCA-FR 2 58390172 58390172 single base substitution T C missense_variant I285M 855A>G BRCA-FR 2 58392244 58392244 single base substitution C T intron_variant BRCA-FR 2 58398531 58398531 single base substitution T C intron_variant BRCA-FR 2 58403457 58403457 single base substitution G A intron_variant BRCA-FR 2 58406078 58406078 single base substitution C G intron_variant BRCA-FR 2 58407366 58407366 single base substitution C A intron_variant BRCA-FR 2 58407454 58407454 single base substitution C A intron_variant BRCA-FR 2 58408816 58408816 single base substitution G C intron_variant BRCA-FR 2 58411421 58411421 single base substitution G A intron_variant BRCA-FR 2 58423371 58423371 single base substitution G C intron_variant BRCA-FR 2 58426397 58426397 single base substitution G C intron_variant BRCA-FR 2 58439685 58439685 single base substitution G C downstream_gene_variant BRCA-FR 2 58439685 58439685 single base substitution G C intron_variant BRCA-FR 2 58447935 58447935 single base substitution G T intron_variant BRCA-FR 2 58449537 58449537 single base substitution T A intron_variant BRCA-FR 2 58450207 58450207 single base substitution A G intron_variant BRCA-FR 2 58460947 58460947 single base substitution C T intron_variant BRCA-FR 2 58460947 58460947 single base substitution C T upstream_gene_variant BRCA-FR 2 58472910 58472910 single base substitution C A upstream_gene_variant BRCA-UK 2 58390089 58390089 single base substitution G A downstream_gene_variant BRCA-UK 2 58390089 58390089 single base substitution G A exon_variant BRCA-UK 2 58390089 58390089 single base substitution G A splice_region_variant BRCA-UK 2 58406902 58406902 single base substitution G C intron_variant BRCA-UK 2 58424549 58424549 single base substitution G A intron_variant BRCA-UK 2 58429743 58429743 single base substitution G C intron_variant BRCA-UK 2 58460671 58460671 single base substitution G C intron_variant BRCA-UK 2 58460671 58460671 single base substitution G C upstream_gene_variant BRCA-UK 2 58462022 58462022 single base substitution C T intron_variant BRCA-US 2 58456952 58456952 single base substitution T A intron_variant BRCA-US 2 58456952 58456952 single base substitution T A missense_variant Q70H 210A>T BRCA-US 2 58456952 58456952 single base substitution T A missense_variant Q71H 213A>T BRCA-US 2 58456952 58456952 single base substitution T A upstream_gene_variant BRCA-US 2 58457010 58457010 single base substitution C G intron_variant BRCA-US 2 58457010 58457010 single base substitution C G splice_acceptor_variant BRCA-US 2 58457010 58457010 single base substitution C G upstream_gene_variant BTCA-JP 2 58388549 58388549 single base substitution G C downstream_gene_variant BTCA-JP 2 58388549 58388549 single base substitution G C intron_variant CESC-US 2 58388716 58388716 single base substitution C T downstream_gene_variant CESC-US 2 58388716 58388716 single base substitution C T missense_variant D204N 610G>A CESC-US 2 58388716 58388716 single base substitution C T missense_variant D262N 784G>A CESC-US 2 58388716 58388716 single base substitution C T missense_variant D293N 877G>A CESC-US 2 58388716 58388716 single base substitution C T missense_variant D321N 961G>A CESC-US 2 58388716 58388716 single base substitution C T missense_variant D326N 976G>A CESC-US 2 58390039 58390039 single base substitution C G downstream_gene_variant CESC-US 2 58390039 58390039 single base substitution C G exon_variant CESC-US 2 58390039 58390039 single base substitution C G missense_variant E141Q 421G>C CESC-US 2 58390039 58390039 single base substitution C G missense_variant E172Q 514G>C CESC-US 2 58390039 58390039 single base substitution C G missense_variant E230Q 688G>C CESC-US 2 58390039 58390039 single base substitution C G missense_variant E261Q 781G>C CESC-US 2 58390039 58390039 single base substitution C G missense_variant E289Q 865G>C CESC-US 2 58390039 58390039 single base substitution C G missense_variant E294Q 880G>C CLLE-ES 2 58391226 58391226 single base substitution C G intron_variant CLLE-ES 2 58397713 58397713 single base substitution G A intron_variant CLLE-ES 2 58397713 58397713 single base substitution G A upstream_gene_variant CLLE-ES 2 58403650 58403650 single base substitution C T intron_variant CLLE-ES 2 58409683 58409683 single base substitution A G intron_variant CLLE-ES 2 58417734 58417734 single base substitution G C intron_variant CLLE-ES 2 58424785 58424785 single base substitution C T intron_variant CLLE-ES 2 58432030 58432030 single base substitution T A intron_variant CLLE-ES 2 58446033 58446033 single base substitution T G intron_variant CLLE-ES 2 58455765 58455765 single base substitution T A intron_variant COAD-US 2 58388663 58388663 single base substitution T C downstream_gene_variant COAD-US 2 58388663 58388663 single base substitution T C synonymous_variant L221L 663A>G COAD-US 2 58388663 58388663 single base substitution T C synonymous_variant L279L 837A>G COAD-US 2 58388663 58388663 single base substitution T C synonymous_variant L310L 930A>G COAD-US 2 58388663 58388663 single base substitution T C synonymous_variant L338L 1014A>G COAD-US 2 58388663 58388663 single base substitution T C synonymous_variant L343L 1029A>G COAD-US 2 58390068 58390068 single base substitution C T downstream_gene_variant COAD-US 2 58390068 58390068 single base substitution C T exon_variant COAD-US 2 58390068 58390068 single base substitution C T missense_variant S131N 392G>A COAD-US 2 58390068 58390068 single base substitution C T missense_variant S162N 485G>A COAD-US 2 58390068 58390068 single base substitution C T missense_variant S220N 659G>A COAD-US 2 58390068 58390068 single base substitution C T missense_variant S251N 752G>A COAD-US 2 58390068 58390068 single base substitution C T missense_variant S279N 836G>A COAD-US 2 58390068 58390068 single base substitution C T missense_variant S284N 851G>A COAD-US 2 58392928 58392928 single base substitution C T 3_prime_UTR_variant COAD-US 2 58392928 58392928 single base substitution C T exon_variant COAD-US 2 58392928 58392928 single base substitution C T missense_variant D149N 445G>A COAD-US 2 58392928 58392928 single base substitution C T missense_variant D208N 622G>A COAD-US 2 58392928 58392928 single base substitution C T missense_variant D213N 637G>A COAD-US 2 58392928 58392928 single base substitution C T missense_variant D222N 664G>A COAD-US 2 58392928 58392928 single base substitution C T missense_variant D60N 178G>A COAD-US 2 58392928 58392928 single base substitution C T missense_variant D91N 271G>A COAD-US 2 58392928 58392928 single base substitution C T missense_variant D96N 286G>A COAD-US 2 58392929 58392929 single base substitution G A 3_prime_UTR_variant COAD-US 2 58392929 58392929 single base substitution G A exon_variant COAD-US 2 58392929 58392929 single base substitution G A synonymous_variant I148I 444C>T COAD-US 2 58392929 58392929 single base substitution G A synonymous_variant I207I 621C>T COAD-US 2 58392929 58392929 single base substitution G A synonymous_variant I212I 636C>T COAD-US 2 58392929 58392929 single base substitution G A synonymous_variant I221I 663C>T COAD-US 2 58392929 58392929 single base substitution G A synonymous_variant I59I 177C>T COAD-US 2 58392929 58392929 single base substitution G A synonymous_variant I90I 270C>T COAD-US 2 58392929 58392929 single base substitution G A synonymous_variant I95I 285C>T COAD-US 2 58456962 58456962 single base substitution C T intron_variant COAD-US 2 58456962 58456962 single base substitution C T missense_variant R67Q 200G>A COAD-US 2 58456962 58456962 single base substitution C T missense_variant R68Q 203G>A COAD-US 2 58456962 58456962 single base substitution C T upstream_gene_variant COAD-US 2 58459207 58459207 single base substitution A G intron_variant COAD-US 2 58459207 58459207 single base substitution A G missense_variant L45S 134T>C COAD-US 2 58459207 58459207 single base substitution A G missense_variant L46S 137T>C COAD-US 2 58459207 58459207 single base substitution A G upstream_gene_variant COAD-US 2 58468420 58468420 single base substitution C T 5_prime_UTR_variant COAD-US 2 58468420 58468420 single base substitution C T missense_variant R10H 29G>A COAD-US 2 58468420 58468420 single base substitution C T missense_variant R9H 26G>A COCA-CN 2 58390125 58390125 single base substitution A C downstream_gene_variant COCA-CN 2 58390125 58390125 single base substitution A C exon_variant COCA-CN 2 58390125 58390125 single base substitution A C intron_variant COCA-CN 2 58390629 58390629 single base substitution C A 3_prime_UTR_variant COCA-CN 2 58390629 58390629 single base substitution C A exon_variant COCA-CN 2 58390629 58390629 single base substitution C A intron_variant COCA-CN 2 58390629 58390629 single base substitution C A stop_gained E122* 364G>T COCA-CN 2 58390629 58390629 single base substitution C A stop_gained E127* 379G>T COCA-CN 2 58390629 58390629 single base substitution C A stop_gained E180* 538G>T COCA-CN 2 58390629 58390629 single base substitution C A stop_gained E239* 715G>T COCA-CN 2 58390629 58390629 single base substitution C A stop_gained E244* 730G>T COCA-CN 2 58390629 58390629 single base substitution C A stop_gained E253* 757G>T COCA-CN 2 58390629 58390629 single base substitution C A stop_gained E91* 271G>T COCA-CN 2 58421317 58421317 single base substitution C A intron_variant COCA-CN 2 58421469 58421469 single base substitution T G intron_variant COCA-CN 2 58449163 58449163 single base substitution C A exon_variant COCA-CN 2 58449163 58449163 single base substitution C A intron_variant COCA-CN 2 58449163 58449163 single base substitution C A missense_variant K37N 111G>T COCA-CN 2 58449163 58449163 single base substitution C A missense_variant K95N 285G>T COCA-CN 2 58449163 58449163 single base substitution C A missense_variant K96N 288G>T COCA-CN 2 58454060 58454060 single base substitution C T intron_variant COCA-CN 2 58459270 58459270 single base substitution T A intron_variant COCA-CN 2 58459270 58459270 single base substitution T A upstream_gene_variant EOPC-DE 2 58397799 58397799 single base substitution T A intron_variant EOPC-DE 2 58397799 58397799 single base substitution T A upstream_gene_variant EOPC-DE 2 58427142 58427142 single base substitution A G intron_variant EOPC-DE 2 58434946 58434946 single base substitution C A intron_variant EOPC-DE 2 58458876 58458876 single base substitution A C intron_variant EOPC-DE 2 58458876 58458876 single base substitution A C upstream_gene_variant ESAD-UK 2 58383719 58383728 deletion of <=200bp TTTTGTTTTG - downstream_gene_variant ESAD-UK 2 58384277 58384277 single base substitution T G downstream_gene_variant ESAD-UK 2 58386684 58386684 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 58386684 58386684 single base substitution C T downstream_gene_variant ESAD-UK 2 58387113 58387113 single base substitution G C downstream_gene_variant ESAD-UK 2 58387113 58387113 single base substitution G C intron_variant ESAD-UK 2 58389956 58389956 single base substitution A G downstream_gene_variant ESAD-UK 2 58389956 58389956 single base substitution A G intron_variant ESAD-UK 2 58391994 58391994 single base substitution C T intron_variant ESAD-UK 2 58392081 58392081 single base substitution T C intron_variant ESAD-UK 2 58393030 58393030 single base substitution G A intron_variant ESAD-UK 2 58393030 58393030 single base substitution G A upstream_gene_variant ESAD-UK 2 58397479 58397479 single base substitution C T intron_variant ESAD-UK 2 58397479 58397479 single base substitution C T upstream_gene_variant ESAD-UK 2 58398118 58398118 single base substitution C T intron_variant ESAD-UK 2 58398813 58398813 single base substitution C T intron_variant ESAD-UK 2 58398815 58398815 single base substitution C T intron_variant ESAD-UK 2 58399196 58399196 single base substitution T C intron_variant ESAD-UK 2 58400091 58400091 single base substitution C A intron_variant ESAD-UK 2 58400149 58400149 single base substitution A G intron_variant ESAD-UK 2 58400332 58400332 single base substitution A G intron_variant ESAD-UK 2 58401472 58401472 single base substitution T G intron_variant ESAD-UK 2 58405523 58405523 single base substitution C G intron_variant ESAD-UK 2 58407201 58407201 single base substitution G A intron_variant ESAD-UK 2 58407299 58407299 single base substitution C T intron_variant ESAD-UK 2 58407532 58407532 single base substitution G A intron_variant ESAD-UK 2 58408067 58408067 single base substitution G A intron_variant ESAD-UK 2 58408838 58408838 single base substitution G T intron_variant ESAD-UK 2 58410631 58410631 single base substitution T C intron_variant ESAD-UK 2 58413456 58413456 single base substitution G A intron_variant ESAD-UK 2 58416661 58416661 single base substitution G A intron_variant ESAD-UK 2 58416831 58416831 single base substitution G A intron_variant ESAD-UK 2 58417107 58417107 single base substitution T C intron_variant ESAD-UK 2 58417716 58417716 single base substitution C G intron_variant ESAD-UK 2 58418754 58418754 single base substitution C T intron_variant ESAD-UK 2 58419806 58419806 single base substitution G A intron_variant ESAD-UK 2 58424249 58424249 single base substitution G A intron_variant ESAD-UK 2 58427637 58427637 single base substitution C G intron_variant ESAD-UK 2 58430290 58430290 single base substitution C G intron_variant ESAD-UK 2 58430347 58430347 single base substitution C A intron_variant ESAD-UK 2 58430432 58430432 single base substitution C G intron_variant ESAD-UK 2 58430487 58430487 single base substitution C A intron_variant ESAD-UK 2 58430582 58430582 single base substitution C T intron_variant ESAD-UK 2 58430636 58430636 single base substitution T C intron_variant ESAD-UK 2 58430657 58430657 single base substitution C T intron_variant ESAD-UK 2 58430775 58430775 single base substitution C T intron_variant ESAD-UK 2 58431586 58431586 insertion of <=200bp - TG intron_variant ESAD-UK 2 58434136 58434136 single base substitution C T intron_variant ESAD-UK 2 58434633 58434633 single base substitution G C intron_variant ESAD-UK 2 58436825 58436825 single base substitution C T downstream_gene_variant ESAD-UK 2 58436825 58436825 single base substitution C T intron_variant ESAD-UK 2 58436986 58436986 single base substitution C T downstream_gene_variant ESAD-UK 2 58436986 58436986 single base substitution C T intron_variant ESAD-UK 2 58437049 58437049 single base substitution C G downstream_gene_variant ESAD-UK 2 58437049 58437049 single base substitution C G intron_variant ESAD-UK 2 58437163 58437163 single base substitution C A downstream_gene_variant ESAD-UK 2 58437163 58437163 single base substitution C A intron_variant ESAD-UK 2 58437216 58437216 single base substitution C T downstream_gene_variant ESAD-UK 2 58437216 58437216 single base substitution C T intron_variant ESAD-UK 2 58437226 58437226 single base substitution C T downstream_gene_variant ESAD-UK 2 58437226 58437226 single base substitution C T intron_variant ESAD-UK 2 58437255 58437255 single base substitution C G downstream_gene_variant ESAD-UK 2 58437255 58437255 single base substitution C G intron_variant ESAD-UK 2 58437287 58437287 single base substitution C G downstream_gene_variant ESAD-UK 2 58437287 58437287 single base substitution C G intron_variant ESAD-UK 2 58437400 58437400 single base substitution C T downstream_gene_variant ESAD-UK 2 58437400 58437400 single base substitution C T intron_variant ESAD-UK 2 58437669 58437669 single base substitution C T downstream_gene_variant ESAD-UK 2 58437669 58437669 single base substitution C T intron_variant ESAD-UK 2 58437934 58437934 single base substitution C T downstream_gene_variant ESAD-UK 2 58437934 58437934 single base substitution C T intron_variant ESAD-UK 2 58437970 58437970 single base substitution C T downstream_gene_variant ESAD-UK 2 58437970 58437970 single base substitution C T intron_variant ESAD-UK 2 58437977 58437977 single base substitution C G downstream_gene_variant ESAD-UK 2 58437977 58437977 single base substitution C G intron_variant ESAD-UK 2 58438242 58438242 single base substitution C T downstream_gene_variant ESAD-UK 2 58438242 58438242 single base substitution C T intron_variant ESAD-UK 2 58442708 58442708 single base substitution G A intron_variant ESAD-UK 2 58444189 58444189 single base substitution T C intron_variant ESAD-UK 2 58447865 58447865 single base substitution C T intron_variant ESAD-UK 2 58450990 58450990 single base substitution C T intron_variant ESAD-UK 2 58451381 58451381 single base substitution A G intron_variant ESAD-UK 2 58452054 58452054 insertion of <=200bp - A intron_variant ESAD-UK 2 58455316 58455316 single base substitution A C intron_variant ESAD-UK 2 58455895 58455895 single base substitution C T intron_variant ESAD-UK 2 58457106 58457106 single base substitution A C intron_variant ESAD-UK 2 58457106 58457106 single base substitution A C upstream_gene_variant ESAD-UK 2 58457714 58457714 single base substitution A G intron_variant ESAD-UK 2 58457714 58457714 single base substitution A G upstream_gene_variant ESAD-UK 2 58460693 58460693 single base substitution C A intron_variant ESAD-UK 2 58460693 58460693 single base substitution C A upstream_gene_variant ESAD-UK 2 58461046 58461046 insertion of <=200bp - A intron_variant ESAD-UK 2 58461046 58461046 insertion of <=200bp - A upstream_gene_variant ESAD-UK 2 58461341 58461341 single base substitution C T intron_variant ESAD-UK 2 58461341 58461341 single base substitution C T upstream_gene_variant ESAD-UK 2 58462089 58462089 single base substitution C T intron_variant ESAD-UK 2 58462398 58462398 single base substitution G C intron_variant ESAD-UK 2 58463609 58463609 insertion of <=200bp - C intron_variant ESAD-UK 2 58465489 58465489 single base substitution G A intron_variant ESAD-UK 2 58466041 58466041 single base substitution T G intron_variant ESAD-UK 2 58468691 58468691 single base substitution G T upstream_gene_variant ESAD-UK 2 58469048 58469048 single base substitution G C upstream_gene_variant ESAD-UK 2 58469329 58469329 single base substitution C A upstream_gene_variant ESAD-UK 2 58470373 58470373 single base substitution T G upstream_gene_variant ESAD-UK 2 58471412 58471412 single base substitution A C upstream_gene_variant ESAD-UK 2 58471581 58471581 single base substitution A T upstream_gene_variant ESAD-UK 2 58472139 58472139 single base substitution C A upstream_gene_variant ESAD-UK 2 58472200 58472200 single base substitution A C upstream_gene_variant ESAD-UK 2 58473024 58473024 single base substitution G C upstream_gene_variant ESAD-UK 2 58473449 58473449 single base substitution T C upstream_gene_variant ESCA-CN 2 58386647 58386647 single base substitution C G 3_prime_UTR_variant ESCA-CN 2 58386647 58386647 single base substitution C G downstream_gene_variant ESCA-CN 2 58468369 58468369 single base substitution C A missense_variant D3Y 7G>T ESCA-CN 2 58468369 58468369 single base substitution C A missense_variant G26V 77G>T ESCA-CN 2 58468369 58468369 single base substitution C A missense_variant G27V 80G>T ESCA-CN 2 58468386 58468386 single base substitution C T 5_prime_UTR_variant ESCA-CN 2 58468386 58468386 single base substitution C T synonymous_variant S20S 60G>A ESCA-CN 2 58468386 58468386 single base substitution C T synonymous_variant S21S 63G>A KIRP-US 2 58386912 58386912 single base substitution T C downstream_gene_variant KIRP-US 2 58386912 58386912 single base substitution T C synonymous_variant G255G 765A>G KIRP-US 2 58386912 58386912 single base substitution T C synonymous_variant G344G 1032A>G KIRP-US 2 58386912 58386912 single base substitution T C synonymous_variant G372G 1116A>G KIRP-US 2 58386912 58386912 single base substitution T C synonymous_variant G377G 1131A>G KIRP-US 2 58431304 58431304 single base substitution A G intron_variant KIRP-US 2 58431304 58431304 single base substitution A G synonymous_variant S143S 429T>C KIRP-US 2 58431304 58431304 single base substitution A G synonymous_variant S144S 432T>C KIRP-US 2 58431304 58431304 single base substitution A G synonymous_variant S27S 81T>C KIRP-US 2 58431304 58431304 single base substitution A G synonymous_variant S85S 255T>C LAML-KR 2 58431168 58431168 single base substitution T C intron_variant LICA-FR 2 58388764 58388764 single base substitution T C downstream_gene_variant LICA-FR 2 58388764 58388764 single base substitution T C missense_variant M157V 469A>G LICA-FR 2 58388764 58388764 single base substitution T C missense_variant M188V 562A>G LICA-FR 2 58388764 58388764 single base substitution T C missense_variant M246V 736A>G LICA-FR 2 58388764 58388764 single base substitution T C missense_variant M277V 829A>G LICA-FR 2 58388764 58388764 single base substitution T C missense_variant M305V 913A>G LICA-FR 2 58388764 58388764 single base substitution T C missense_variant M310V 928A>G LICA-FR 2 58398114 58398114 single base substitution T G intron_variant LICA-FR 2 58402946 58402946 single base substitution G C intron_variant LICA-FR 2 58406636 58406636 single base substitution T C intron_variant LICA-FR 2 58420737 58420737 single base substitution A C intron_variant LICA-FR 2 58430890 58430890 deletion of <=200bp T - intron_variant LICA-FR 2 58431363 58431363 single base substitution T A intron_variant LICA-FR 2 58431363 58431363 single base substitution T A splice_acceptor_variant LICA-FR 2 58432644 58432644 single base substitution T C intron_variant LICA-FR 2 58442143 58442143 single base substitution C T intron_variant LICA-FR 2 58449452 58449452 insertion of <=200bp - AA intron_variant LINC-JP 2 58382003 58382003 single base substitution A G downstream_gene_variant LINC-JP 2 58386136 58386136 single base substitution T A downstream_gene_variant LINC-JP 2 58386739 58386739 single base substitution A C 3_prime_UTR_variant LINC-JP 2 58386739 58386739 single base substitution A C downstream_gene_variant LINC-JP 2 58387169 58387169 single base substitution T C downstream_gene_variant LINC-JP 2 58387169 58387169 single base substitution T C intron_variant LINC-JP 2 58387286 58387286 single base substitution T A downstream_gene_variant LINC-JP 2 58387286 58387286 single base substitution T A missense_variant Q233L 698A>T LINC-JP 2 58387286 58387286 single base substitution T A missense_variant Q291L 872A>T LINC-JP 2 58387286 58387286 single base substitution T A missense_variant Q322L 965A>T LINC-JP 2 58387286 58387286 single base substitution T A missense_variant Q350L 1049A>T LINC-JP 2 58387286 58387286 single base substitution T A missense_variant Q355L 1064A>T LINC-JP 2 58388763 58388763 single base substitution A G downstream_gene_variant LINC-JP 2 58388763 58388763 single base substitution A G missense_variant M157T 470T>C LINC-JP 2 58388763 58388763 single base substitution A G missense_variant M188T 563T>C LINC-JP 2 58388763 58388763 single base substitution A G missense_variant M246T 737T>C LINC-JP 2 58388763 58388763 single base substitution A G missense_variant M277T 830T>C LINC-JP 2 58388763 58388763 single base substitution A G missense_variant M305T 914T>C LINC-JP 2 58388763 58388763 single base substitution A G missense_variant M310T 929T>C LINC-JP 2 58388765 58388765 single base substitution A G downstream_gene_variant LINC-JP 2 58388765 58388765 single base substitution A G synonymous_variant T156T 468T>C LINC-JP 2 58388765 58388765 single base substitution A G synonymous_variant T187T 561T>C LINC-JP 2 58388765 58388765 single base substitution A G synonymous_variant T245T 735T>C LINC-JP 2 58388765 58388765 single base substitution A G synonymous_variant T276T 828T>C LINC-JP 2 58388765 58388765 single base substitution A G synonymous_variant T304T 912T>C LINC-JP 2 58388765 58388765 single base substitution A G synonymous_variant T309T 927T>C LINC-JP 2 58390678 58390678 single base substitution T G intron_variant LINC-JP 2 58392696 58392696 single base substitution A C intron_variant LINC-JP 2 58392783 58392784 deletion of <=200bp CT - intron_variant LINC-JP 2 58398737 58398737 single base substitution G C intron_variant LINC-JP 2 58400326 58400326 single base substitution G A intron_variant LINC-JP 2 58417910 58417910 single base substitution A G intron_variant LINC-JP 2 58423853 58423853 single base substitution T A intron_variant LINC-JP 2 58441218 58441218 single base substitution G C intron_variant LINC-JP 2 58449257 58449257 single base substitution T G intron_variant LINC-JP 2 58457723 58457723 single base substitution T C intron_variant LINC-JP 2 58457723 58457723 single base substitution T C upstream_gene_variant LINC-JP 2 58471082 58471082 insertion of <=200bp - A upstream_gene_variant LIRI-JP 2 58383592 58383592 single base substitution T A downstream_gene_variant LIRI-JP 2 58385188 58385188 deletion of <=200bp T - downstream_gene_variant LIRI-JP 2 58385946 58385946 single base substitution C T downstream_gene_variant LIRI-JP 2 58386116 58386116 single base substitution A C downstream_gene_variant LIRI-JP 2 58386125 58386125 single base substitution A G downstream_gene_variant LIRI-JP 2 58386260 58386260 single base substitution A G downstream_gene_variant LIRI-JP 2 58386336 58386336 single base substitution T G downstream_gene_variant LIRI-JP 2 58386351 58386351 single base substitution T G downstream_gene_variant LIRI-JP 2 58386850 58386850 single base substitution T A 3_prime_UTR_variant LIRI-JP 2 58386850 58386850 single base substitution T A downstream_gene_variant LIRI-JP 2 58388756 58388756 single base substitution A G downstream_gene_variant LIRI-JP 2 58388756 58388756 single base substitution A G synonymous_variant C190C 570T>C LIRI-JP 2 58388756 58388756 single base substitution A G synonymous_variant C248C 744T>C LIRI-JP 2 58388756 58388756 single base substitution A G synonymous_variant C279C 837T>C LIRI-JP 2 58388756 58388756 single base substitution A G synonymous_variant C307C 921T>C LIRI-JP 2 58388756 58388756 single base substitution A G synonymous_variant C312C 936T>C LIRI-JP 2 58391536 58391562 deletion of <=200bp AAATACAAAAAGTTATAATCTCATTTG - intron_variant LIRI-JP 2 58392171 58392171 single base substitution A G intron_variant LIRI-JP 2 58392294 58392294 single base substitution G A intron_variant LIRI-JP 2 58393797 58393797 single base substitution T G intron_variant LIRI-JP 2 58393797 58393797 single base substitution T G upstream_gene_variant LIRI-JP 2 58394803 58394803 single base substitution C T intron_variant LIRI-JP 2 58394803 58394803 single base substitution C T upstream_gene_variant LIRI-JP 2 58395015 58395015 single base substitution A C intron_variant LIRI-JP 2 58395015 58395015 single base substitution A C upstream_gene_variant LIRI-JP 2 58398524 58398524 single base substitution G A intron_variant LIRI-JP 2 58405579 58405579 single base substitution C T intron_variant LIRI-JP 2 58406088 58406088 single base substitution G A intron_variant LIRI-JP 2 58407153 58407153 single base substitution T C intron_variant LIRI-JP 2 58408196 58408196 single base substitution A C intron_variant LIRI-JP 2 58411075 58411075 single base substitution T C intron_variant LIRI-JP 2 58411605 58411605 single base substitution A G intron_variant LIRI-JP 2 58412864 58412864 single base substitution A C intron_variant LIRI-JP 2 58414260 58414260 single base substitution T C intron_variant LIRI-JP 2 58415762 58415762 single base substitution G A intron_variant LIRI-JP 2 58418144 58418144 single base substitution T A intron_variant LIRI-JP 2 58418409 58418409 deletion of <=200bp C - intron_variant LIRI-JP 2 58419251 58419251 single base substitution T G intron_variant LIRI-JP 2 58419710 58419710 single base substitution T C intron_variant LIRI-JP 2 58422905 58422905 single base substitution A C intron_variant LIRI-JP 2 58423510 58423510 single base substitution T C intron_variant LIRI-JP 2 58424006 58424006 single base substitution T C intron_variant LIRI-JP 2 58425769 58425769 single base substitution A G intron_variant LIRI-JP 2 58425769 58425769 single base substitution A G missense_variant V108A 323T>C LIRI-JP 2 58425769 58425769 single base substitution A G missense_variant V166A 497T>C LIRI-JP 2 58425769 58425769 single base substitution A G missense_variant V167A 500T>C LIRI-JP 2 58425769 58425769 single base substitution A G missense_variant V50A 149T>C LIRI-JP 2 58425951 58425951 single base substitution T C intron_variant LIRI-JP 2 58426022 58426022 single base substitution G A intron_variant LIRI-JP 2 58429047 58429047 single base substitution C G intron_variant LIRI-JP 2 58429428 58429428 single base substitution T A intron_variant LIRI-JP 2 58429830 58429830 single base substitution A C intron_variant LIRI-JP 2 58431161 58431161 single base substitution T C intron_variant LIRI-JP 2 58431988 58431988 single base substitution G C intron_variant LIRI-JP 2 58433080 58433080 single base substitution C A intron_variant LIRI-JP 2 58436463 58436463 single base substitution A G downstream_gene_variant LIRI-JP 2 58436463 58436463 single base substitution A G intron_variant LIRI-JP 2 58437197 58437197 single base substitution T C downstream_gene_variant LIRI-JP 2 58437197 58437197 single base substitution T C intron_variant LIRI-JP 2 58437520 58437520 single base substitution T C downstream_gene_variant LIRI-JP 2 58437520 58437520 single base substitution T C intron_variant LIRI-JP 2 58437699 58437699 single base substitution C A downstream_gene_variant LIRI-JP 2 58437699 58437699 single base substitution C A intron_variant LIRI-JP 2 58441424 58441424 single base substitution T C intron_variant LIRI-JP 2 58441499 58441499 single base substitution T C intron_variant LIRI-JP 2 58441761 58441761 single base substitution C A intron_variant LIRI-JP 2 58443018 58443018 single base substitution T C intron_variant LIRI-JP 2 58445379 58445379 single base substitution T C intron_variant LIRI-JP 2 58446804 58446804 single base substitution A C intron_variant LIRI-JP 2 58447379 58447379 single base substitution C A intron_variant LIRI-JP 2 58449032 58449032 single base substitution T C intron_variant LIRI-JP 2 58449175 58449175 single base substitution T A intron_variant LIRI-JP 2 58449175 58449175 single base substitution T A missense_variant E33D 99A>T LIRI-JP 2 58449175 58449175 single base substitution T A missense_variant E91D 273A>T LIRI-JP 2 58449175 58449175 single base substitution T A missense_variant E92D 276A>T LIRI-JP 2 58449175 58449175 single base substitution T A splice_region_variant LIRI-JP 2 58449523 58449524 deletion of <=200bp AT - intron_variant LIRI-JP 2 58449547 58449547 single base substitution C T intron_variant LIRI-JP 2 58449678 58449678 single base substitution A G intron_variant LIRI-JP 2 58449969 58449969 single base substitution A T intron_variant LIRI-JP 2 58450302 58450302 single base substitution G C intron_variant LIRI-JP 2 58450819 58450819 single base substitution G A intron_variant LIRI-JP 2 58451969 58451969 single base substitution T C intron_variant LIRI-JP 2 58452010 58452010 single base substitution T C intron_variant LIRI-JP 2 58452307 58452307 single base substitution C T intron_variant LIRI-JP 2 58453572 58453572 single base substitution A C intron_variant LIRI-JP 2 58455216 58455216 single base substitution T A intron_variant LIRI-JP 2 58455415 58455415 single base substitution A T intron_variant LIRI-JP 2 58455989 58455989 single base substitution G C intron_variant LIRI-JP 2 58457428 58457428 single base substitution G A intron_variant LIRI-JP 2 58457428 58457428 single base substitution G A upstream_gene_variant LIRI-JP 2 58459676 58459676 single base substitution G A intron_variant LIRI-JP 2 58459676 58459676 single base substitution G A upstream_gene_variant LIRI-JP 2 58463973 58463973 single base substitution C T intron_variant LIRI-JP 2 58464109 58464109 single base substitution T C intron_variant LIRI-JP 2 58465708 58465708 single base substitution C T intron_variant LIRI-JP 2 58469208 58469208 single base substitution T C upstream_gene_variant LIRI-JP 2 58470793 58470804 deletion of <=200bp ATTGCTAATTTA - upstream_gene_variant LIRI-JP 2 58471040 58471040 single base substitution C T upstream_gene_variant LIRI-JP 2 58471119 58471119 single base substitution G T upstream_gene_variant LIRI-JP 2 58471138 58471138 single base substitution T C upstream_gene_variant LIRI-JP 2 58471466 58471466 single base substitution G C upstream_gene_variant LIRI-JP 2 58471885 58471885 single base substitution A G upstream_gene_variant LIRI-JP 2 58472223 58472223 single base substitution C A upstream_gene_variant LIRI-JP 2 58472519 58472519 single base substitution C G upstream_gene_variant LUSC-KR 2 58385852 58385852 single base substitution G A downstream_gene_variant LUSC-KR 2 58391949 58391949 single base substitution G A intron_variant LUSC-KR 2 58398356 58398356 single base substitution C T intron_variant LUSC-KR 2 58401477 58401477 single base substitution T A intron_variant LUSC-KR 2 58405621 58405621 single base substitution G A intron_variant LUSC-KR 2 58406554 58406554 single base substitution G A intron_variant LUSC-KR 2 58407046 58407046 single base substitution G A intron_variant LUSC-KR 2 58407500 58407500 single base substitution T C intron_variant LUSC-KR 2 58414516 58414516 single base substitution C A intron_variant LUSC-KR 2 58415025 58415025 single base substitution C T intron_variant LUSC-KR 2 58419851 58419851 single base substitution T A intron_variant LUSC-KR 2 58420851 58420851 single base substitution C A intron_variant LUSC-KR 2 58423252 58423252 single base substitution T C intron_variant LUSC-KR 2 58425181 58425181 single base substitution C T intron_variant LUSC-KR 2 58425183 58425183 single base substitution T C intron_variant LUSC-KR 2 58425405 58425405 single base substitution C A intron_variant LUSC-KR 2 58430207 58430207 single base substitution C A intron_variant LUSC-KR 2 58435562 58435562 single base substitution G T intron_variant LUSC-KR 2 58436254 58436254 single base substitution A G downstream_gene_variant LUSC-KR 2 58436254 58436254 single base substitution A G intron_variant LUSC-KR 2 58441358 58441358 single base substitution G C intron_variant LUSC-KR 2 58441469 58441469 single base substitution C T intron_variant LUSC-KR 2 58441698 58441698 single base substitution C A intron_variant LUSC-KR 2 58441722 58441722 single base substitution C A intron_variant LUSC-KR 2 58441793 58441793 single base substitution C A intron_variant LUSC-KR 2 58445280 58445280 single base substitution C G intron_variant LUSC-KR 2 58448316 58448316 single base substitution C A intron_variant LUSC-KR 2 58449754 58449754 single base substitution T A intron_variant LUSC-KR 2 58450038 58450038 single base substitution A G intron_variant LUSC-KR 2 58452281 58452281 single base substitution C A intron_variant LUSC-KR 2 58452515 58452515 single base substitution G A intron_variant LUSC-KR 2 58458239 58458239 single base substitution T C intron_variant LUSC-KR 2 58458239 58458239 single base substitution T C upstream_gene_variant LUSC-KR 2 58459990 58459990 single base substitution G C intron_variant LUSC-KR 2 58459990 58459990 single base substitution G C upstream_gene_variant LUSC-KR 2 58462224 58462224 single base substitution G A intron_variant LUSC-KR 2 58464430 58464430 single base substitution T A intron_variant LUSC-KR 2 58465434 58465434 single base substitution T C intron_variant LUSC-KR 2 58467461 58467461 single base substitution G A intron_variant LUSC-KR 2 58468491 58468491 single base substitution G A 5_prime_UTR_variant LUSC-KR 2 58468491 58468491 single base substitution G A upstream_gene_variant LUSC-KR 2 58472002 58472002 single base substitution A T upstream_gene_variant LUSC-KR 2 58472652 58472652 single base substitution C A upstream_gene_variant LUSC-KR 2 58472985 58472985 single base substitution A T upstream_gene_variant LUSC-KR 2 58473332 58473332 single base substitution T A upstream_gene_variant LUSC-US 2 58386588 58386588 single base substitution T C 3_prime_UTR_variant LUSC-US 2 58386588 58386588 single base substitution T C downstream_gene_variant LUSC-US 2 58392929 58392929 single base substitution G T 3_prime_UTR_variant LUSC-US 2 58392929 58392929 single base substitution G T exon_variant LUSC-US 2 58392929 58392929 single base substitution G T synonymous_variant I148I 444C>A LUSC-US 2 58392929 58392929 single base substitution G T synonymous_variant I207I 621C>A LUSC-US 2 58392929 58392929 single base substitution G T synonymous_variant I212I 636C>A LUSC-US 2 58392929 58392929 single base substitution G T synonymous_variant I221I 663C>A LUSC-US 2 58392929 58392929 single base substitution G T synonymous_variant I59I 177C>A LUSC-US 2 58392929 58392929 single base substitution G T synonymous_variant I90I 270C>A LUSC-US 2 58392929 58392929 single base substitution G T synonymous_variant I95I 285C>A LUSC-US 2 58425768 58425768 single base substitution C A intron_variant LUSC-US 2 58425768 58425768 single base substitution C A synonymous_variant V108V 324G>T LUSC-US 2 58425768 58425768 single base substitution C A synonymous_variant V166V 498G>T LUSC-US 2 58425768 58425768 single base substitution C A synonymous_variant V167V 501G>T LUSC-US 2 58425768 58425768 single base substitution C A synonymous_variant V50V 150G>T LUSC-US 2 58459241 58459241 single base substitution C A intron_variant LUSC-US 2 58459241 58459241 single base substitution C A missense_variant D34Y 100G>T LUSC-US 2 58459241 58459241 single base substitution C A missense_variant D35Y 103G>T LUSC-US 2 58459241 58459241 single base substitution C A upstream_gene_variant MALY-DE 2 58398506 58398506 single base substitution C G intron_variant MALY-DE 2 58400173 58400173 single base substitution T C intron_variant MALY-DE 2 58407066 58407066 single base substitution C A intron_variant MALY-DE 2 58424403 58424403 single base substitution T C intron_variant MALY-DE 2 58425821 58425821 single base substitution A G intron_variant MALY-DE 2 58426476 58426476 single base substitution C T intron_variant MALY-DE 2 58426901 58426901 single base substitution T C intron_variant MALY-DE 2 58427207 58427207 single base substitution C A intron_variant MALY-DE 2 58447253 58447253 single base substitution G A intron_variant MALY-DE 2 58447254 58447254 single base substitution C A intron_variant MALY-DE 2 58450400 58450400 single base substitution G T intron_variant MALY-DE 2 58450825 58450825 single base substitution A G intron_variant MALY-DE 2 58453333 58453333 single base substitution G T intron_variant MALY-DE 2 58459664 58459664 single base substitution C T intron_variant MALY-DE 2 58459664 58459664 single base substitution C T upstream_gene_variant MALY-DE 2 58462068 58462068 single base substitution C G intron_variant MALY-DE 2 58470581 58470581 single base substitution G T upstream_gene_variant MELA-AU 2 58381451 58381451 single base substitution G A downstream_gene_variant MELA-AU 2 58381847 58381847 single base substitution C T downstream_gene_variant MELA-AU 2 58383531 58383531 single base substitution T C downstream_gene_variant MELA-AU 2 58383945 58383945 single base substitution T C downstream_gene_variant MELA-AU 2 58385495 58385495 single base substitution C A downstream_gene_variant MELA-AU 2 58385870 58385870 single base substitution C T downstream_gene_variant MELA-AU 2 58386815 58386815 single base substitution T C 3_prime_UTR_variant MELA-AU 2 58386815 58386815 single base substitution T C downstream_gene_variant MELA-AU 2 58388014 58388014 single base substitution C T downstream_gene_variant MELA-AU 2 58388014 58388014 single base substitution C T intron_variant MELA-AU 2 58390721 58390721 single base substitution G A intron_variant MELA-AU 2 58391389 58391389 single base substitution C T intron_variant MELA-AU 2 58391733 58391733 single base substitution G A intron_variant MELA-AU 2 58392291 58392291 single base substitution C T intron_variant MELA-AU 2 58392934 58392934 single base substitution C T 3_prime_UTR_variant MELA-AU 2 58392934 58392934 single base substitution C T exon_variant MELA-AU 2 58392934 58392934 single base substitution C T missense_variant E147K 439G>A MELA-AU 2 58392934 58392934 single base substitution C T missense_variant E206K 616G>A MELA-AU 2 58392934 58392934 single base substitution C T missense_variant E211K 631G>A MELA-AU 2 58392934 58392934 single base substitution C T missense_variant E220K 658G>A MELA-AU 2 58392934 58392934 single base substitution C T missense_variant E58K 172G>A MELA-AU 2 58392934 58392934 single base substitution C T missense_variant E89K 265G>A MELA-AU 2 58392934 58392934 single base substitution C T missense_variant E94K 280G>A MELA-AU 2 58394372 58394372 single base substitution G A intron_variant MELA-AU 2 58394372 58394372 single base substitution G A upstream_gene_variant MELA-AU 2 58394982 58394982 single base substitution C T intron_variant MELA-AU 2 58394982 58394982 single base substitution C T upstream_gene_variant MELA-AU 2 58395314 58395314 single base substitution A C intron_variant MELA-AU 2 58395314 58395314 single base substitution A C upstream_gene_variant MELA-AU 2 58395799 58395799 single base substitution C G intron_variant MELA-AU 2 58395799 58395799 single base substitution C G upstream_gene_variant MELA-AU 2 58396020 58396020 single base substitution G A intron_variant MELA-AU 2 58396020 58396020 single base substitution G A upstream_gene_variant MELA-AU 2 58396270 58396271 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 2 58396270 58396271 multiple base substitution (>=2bp and <=200bp) AG TA upstream_gene_variant MELA-AU 2 58396292 58396293 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 58396292 58396293 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 58396462 58396462 single base substitution G A intron_variant MELA-AU 2 58396462 58396462 single base substitution G A upstream_gene_variant MELA-AU 2 58396506 58396506 single base substitution G A intron_variant MELA-AU 2 58396506 58396506 single base substitution G A upstream_gene_variant MELA-AU 2 58396987 58396987 single base substitution G A intron_variant MELA-AU 2 58396987 58396987 single base substitution G A upstream_gene_variant MELA-AU 2 58397245 58397245 single base substitution G A intron_variant MELA-AU 2 58397245 58397245 single base substitution G A upstream_gene_variant MELA-AU 2 58397429 58397429 single base substitution G A intron_variant MELA-AU 2 58397429 58397429 single base substitution G A upstream_gene_variant MELA-AU 2 58397840 58397840 single base substitution A T intron_variant MELA-AU 2 58397840 58397840 single base substitution A T upstream_gene_variant MELA-AU 2 58398537 58398537 single base substitution G A intron_variant MELA-AU 2 58398751 58398751 single base substitution G A intron_variant MELA-AU 2 58399200 58399200 single base substitution C T intron_variant MELA-AU 2 58399238 58399238 single base substitution G A intron_variant MELA-AU 2 58399267 58399267 single base substitution G A intron_variant MELA-AU 2 58399670 58399670 single base substitution G A intron_variant MELA-AU 2 58399691 58399691 single base substitution G A intron_variant MELA-AU 2 58400165 58400165 single base substitution G A intron_variant MELA-AU 2 58401284 58401284 single base substitution G A intron_variant MELA-AU 2 58401624 58401624 single base substitution C G intron_variant MELA-AU 2 58402676 58402676 single base substitution T C intron_variant MELA-AU 2 58403280 58403280 single base substitution G A intron_variant MELA-AU 2 58403660 58403660 single base substitution G A intron_variant MELA-AU 2 58404900 58404900 single base substitution A C intron_variant MELA-AU 2 58404918 58404918 deletion of <=200bp A - intron_variant MELA-AU 2 58405127 58405127 single base substitution G T intron_variant MELA-AU 2 58405175 58405175 single base substitution G A intron_variant MELA-AU 2 58405415 58405415 single base substitution G A intron_variant MELA-AU 2 58405791 58405791 single base substitution C T intron_variant MELA-AU 2 58406602 58406602 single base substitution A C intron_variant MELA-AU 2 58406706 58406706 single base substitution T A intron_variant MELA-AU 2 58407843 58407843 single base substitution A T intron_variant MELA-AU 2 58408423 58408423 single base substitution G A intron_variant MELA-AU 2 58408798 58408798 single base substitution T C intron_variant MELA-AU 2 58409082 58409082 single base substitution T A intron_variant MELA-AU 2 58409727 58409727 single base substitution G A intron_variant MELA-AU 2 58410941 58410941 single base substitution G A intron_variant MELA-AU 2 58411041 58411041 single base substitution G A intron_variant MELA-AU 2 58411591 58411591 single base substitution G A intron_variant MELA-AU 2 58411970 58411970 single base substitution G A intron_variant MELA-AU 2 58412541 58412541 single base substitution G A intron_variant MELA-AU 2 58413512 58413512 single base substitution G A intron_variant MELA-AU 2 58413591 58413591 single base substitution G A intron_variant MELA-AU 2 58413605 58413605 single base substitution G A intron_variant MELA-AU 2 58414466 58414466 single base substitution C T intron_variant MELA-AU 2 58414712 58414712 single base substitution A G intron_variant MELA-AU 2 58415043 58415043 single base substitution G T intron_variant MELA-AU 2 58415071 58415071 single base substitution C G intron_variant MELA-AU 2 58415710 58415710 single base substitution G A intron_variant MELA-AU 2 58415852 58415852 single base substitution G A intron_variant MELA-AU 2 58417085 58417085 single base substitution G A intron_variant MELA-AU 2 58417941 58417941 single base substitution A T intron_variant MELA-AU 2 58419782 58419782 single base substitution G A intron_variant MELA-AU 2 58419797 58419797 single base substitution G A intron_variant MELA-AU 2 58419838 58419838 single base substitution G A intron_variant MELA-AU 2 58420860 58420860 single base substitution A T intron_variant MELA-AU 2 58420876 58420876 single base substitution G A intron_variant MELA-AU 2 58420888 58420888 single base substitution G A intron_variant MELA-AU 2 58421577 58421577 single base substitution A G intron_variant MELA-AU 2 58422009 58422009 single base substitution G A intron_variant MELA-AU 2 58422491 58422491 single base substitution G A intron_variant MELA-AU 2 58422643 58422643 single base substitution C T intron_variant MELA-AU 2 58423376 58423376 single base substitution G A intron_variant MELA-AU 2 58424088 58424088 single base substitution G A intron_variant MELA-AU 2 58424730 58424730 single base substitution T C intron_variant MELA-AU 2 58425095 58425095 single base substitution G A intron_variant MELA-AU 2 58425279 58425279 single base substitution G A intron_variant MELA-AU 2 58425342 58425342 single base substitution A T intron_variant MELA-AU 2 58425350 58425350 single base substitution T C intron_variant MELA-AU 2 58426986 58426986 single base substitution T C intron_variant MELA-AU 2 58427238 58427238 single base substitution G A intron_variant MELA-AU 2 58427605 58427605 single base substitution G A intron_variant MELA-AU 2 58427824 58427824 single base substitution G A intron_variant MELA-AU 2 58427970 58427970 single base substitution A G intron_variant MELA-AU 2 58428249 58428249 deletion of <=200bp A - intron_variant MELA-AU 2 58428588 58428588 single base substitution C T intron_variant MELA-AU 2 58430460 58430460 single base substitution T C intron_variant MELA-AU 2 58430891 58430891 single base substitution T G intron_variant MELA-AU 2 58431473 58431473 single base substitution A G intron_variant MELA-AU 2 58431924 58431924 single base substitution G A intron_variant MELA-AU 2 58432360 58432360 single base substitution G A intron_variant MELA-AU 2 58435258 58435258 single base substitution T A intron_variant MELA-AU 2 58436239 58436239 single base substitution G A downstream_gene_variant MELA-AU 2 58436239 58436239 single base substitution G A intron_variant MELA-AU 2 58436610 58436610 single base substitution C A downstream_gene_variant MELA-AU 2 58436610 58436610 single base substitution C A intron_variant MELA-AU 2 58436713 58436713 single base substitution G C downstream_gene_variant MELA-AU 2 58436713 58436713 single base substitution G C intron_variant MELA-AU 2 58437548 58437548 single base substitution A C downstream_gene_variant MELA-AU 2 58437548 58437548 single base substitution A C intron_variant MELA-AU 2 58437609 58437609 single base substitution G A downstream_gene_variant MELA-AU 2 58437609 58437609 single base substitution G A intron_variant MELA-AU 2 58438000 58438000 single base substitution A T downstream_gene_variant MELA-AU 2 58438000 58438000 single base substitution A T intron_variant MELA-AU 2 58438233 58438233 single base substitution A T downstream_gene_variant MELA-AU 2 58438233 58438233 single base substitution A T intron_variant MELA-AU 2 58439257 58439257 single base substitution A T downstream_gene_variant MELA-AU 2 58439257 58439257 single base substitution A T intron_variant MELA-AU 2 58439706 58439706 single base substitution G C downstream_gene_variant MELA-AU 2 58439706 58439706 single base substitution G C intron_variant MELA-AU 2 58439757 58439757 single base substitution T G downstream_gene_variant MELA-AU 2 58439757 58439757 single base substitution T G intron_variant MELA-AU 2 58441623 58441623 single base substitution G C intron_variant MELA-AU 2 58441918 58441918 single base substitution G A intron_variant MELA-AU 2 58442352 58442352 single base substitution G A intron_variant MELA-AU 2 58442918 58442918 single base substitution C T intron_variant MELA-AU 2 58443315 58443315 single base substitution G A intron_variant MELA-AU 2 58443969 58443969 single base substitution G A intron_variant MELA-AU 2 58444097 58444097 single base substitution A T intron_variant MELA-AU 2 58444574 58444574 single base substitution G A intron_variant MELA-AU 2 58444587 58444587 single base substitution G A intron_variant MELA-AU 2 58445213 58445213 single base substitution T A intron_variant MELA-AU 2 58445408 58445408 single base substitution A T intron_variant MELA-AU 2 58445706 58445706 single base substitution A G intron_variant MELA-AU 2 58445715 58445715 single base substitution T A intron_variant MELA-AU 2 58446154 58446154 single base substitution T C intron_variant MELA-AU 2 58446790 58446790 single base substitution A T intron_variant MELA-AU 2 58447619 58447619 single base substitution G A intron_variant MELA-AU 2 58447700 58447700 single base substitution C T intron_variant MELA-AU 2 58447875 58447875 single base substitution A T intron_variant MELA-AU 2 58448130 58448130 single base substitution G A intron_variant MELA-AU 2 58448150 58448150 single base substitution G A intron_variant MELA-AU 2 58448747 58448747 single base substitution C T intron_variant MELA-AU 2 58449240 58449240 single base substitution G A intron_variant MELA-AU 2 58449300 58449300 single base substitution G A intron_variant MELA-AU 2 58449384 58449384 single base substitution C A intron_variant MELA-AU 2 58449447 58449447 single base substitution G A intron_variant MELA-AU 2 58449611 58449611 single base substitution A G intron_variant MELA-AU 2 58449949 58449949 single base substitution G A intron_variant MELA-AU 2 58452235 58452235 single base substitution A T intron_variant MELA-AU 2 58453202 58453202 single base substitution C A intron_variant MELA-AU 2 58454655 58454655 single base substitution G T intron_variant MELA-AU 2 58456310 58456310 single base substitution G A intron_variant MELA-AU 2 58456699 58456699 single base substitution G A intron_variant MELA-AU 2 58457034 58457034 single base substitution G A intron_variant MELA-AU 2 58457034 58457034 single base substitution G A upstream_gene_variant MELA-AU 2 58457552 58457552 single base substitution C T intron_variant MELA-AU 2 58457552 58457552 single base substitution C T upstream_gene_variant MELA-AU 2 58458320 58458321 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 58458320 58458321 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 58459112 58459112 single base substitution G A intron_variant MELA-AU 2 58459112 58459112 single base substitution G A upstream_gene_variant MELA-AU 2 58460629 58460629 single base substitution C T intron_variant MELA-AU 2 58460629 58460629 single base substitution C T upstream_gene_variant MELA-AU 2 58461288 58461288 single base substitution G A intron_variant MELA-AU 2 58461288 58461288 single base substitution G A upstream_gene_variant MELA-AU 2 58461629 58461629 single base substitution G A intron_variant MELA-AU 2 58461629 58461629 single base substitution G A upstream_gene_variant MELA-AU 2 58461854 58461854 single base substitution G T intron_variant MELA-AU 2 58461854 58461854 single base substitution G T upstream_gene_variant MELA-AU 2 58462159 58462159 single base substitution G A intron_variant MELA-AU 2 58462195 58462195 single base substitution A C intron_variant MELA-AU 2 58462428 58462428 single base substitution G A intron_variant MELA-AU 2 58462894 58462894 single base substitution C T intron_variant MELA-AU 2 58463169 58463169 single base substitution G A intron_variant MELA-AU 2 58464465 58464465 single base substitution A T intron_variant MELA-AU 2 58464744 58464744 single base substitution G A intron_variant MELA-AU 2 58466097 58466097 single base substitution A T intron_variant MELA-AU 2 58466437 58466437 single base substitution A G intron_variant MELA-AU 2 58467908 58467908 single base substitution G A intron_variant MELA-AU 2 58467936 58467936 single base substitution G A intron_variant MELA-AU 2 58469242 58469242 single base substitution C T upstream_gene_variant MELA-AU 2 58469325 58469325 single base substitution C T upstream_gene_variant MELA-AU 2 58469369 58469369 single base substitution C T upstream_gene_variant MELA-AU 2 58469517 58469517 single base substitution G A upstream_gene_variant MELA-AU 2 58469730 58469730 single base substitution G A upstream_gene_variant MELA-AU 2 58469862 58469862 single base substitution C T upstream_gene_variant MELA-AU 2 58469874 58469874 single base substitution G A upstream_gene_variant MELA-AU 2 58469894 58469894 single base substitution C T upstream_gene_variant MELA-AU 2 58469994 58469994 single base substitution G A upstream_gene_variant MELA-AU 2 58470381 58470381 single base substitution C T upstream_gene_variant MELA-AU 2 58470498 58470498 single base substitution A T upstream_gene_variant MELA-AU 2 58470746 58470746 single base substitution G A upstream_gene_variant MELA-AU 2 58470832 58470832 single base substitution C T upstream_gene_variant MELA-AU 2 58470896 58470896 single base substitution G A upstream_gene_variant MELA-AU 2 58470970 58470970 single base substitution C T upstream_gene_variant MELA-AU 2 58471171 58471171 single base substitution G A upstream_gene_variant MELA-AU 2 58471172 58471172 single base substitution G A upstream_gene_variant MELA-AU 2 58471317 58471317 single base substitution A G upstream_gene_variant MELA-AU 2 58471576 58471576 single base substitution C T upstream_gene_variant MELA-AU 2 58471672 58471672 single base substitution G A upstream_gene_variant MELA-AU 2 58471780 58471780 single base substitution G A upstream_gene_variant MELA-AU 2 58472219 58472219 single base substitution G A upstream_gene_variant MELA-AU 2 58472456 58472456 single base substitution G A upstream_gene_variant MELA-AU 2 58472942 58472942 single base substitution C T upstream_gene_variant MELA-AU 2 58472993 58472993 single base substitution C T upstream_gene_variant ORCA-IN 2 58383052 58383052 insertion of <=200bp - T downstream_gene_variant ORCA-IN 2 58395075 58395075 single base substitution C T intron_variant ORCA-IN 2 58395075 58395075 single base substitution C T upstream_gene_variant ORCA-IN 2 58396037 58396037 single base substitution C T intron_variant ORCA-IN 2 58396037 58396037 single base substitution C T upstream_gene_variant ORCA-IN 2 58396405 58396405 single base substitution C G intron_variant ORCA-IN 2 58396405 58396405 single base substitution C G upstream_gene_variant ORCA-IN 2 58430957 58430957 single base substitution C T intron_variant ORCA-IN 2 58456327 58456327 single base substitution G T intron_variant OV-AU 2 58383417 58383417 single base substitution T C downstream_gene_variant OV-AU 2 58390173 58390173 single base substitution A G downstream_gene_variant OV-AU 2 58390173 58390173 single base substitution A G exon_variant OV-AU 2 58390173 58390173 single base substitution A G missense_variant I123T 368T>C OV-AU 2 58390173 58390173 single base substitution A G missense_variant I154T 461T>C OV-AU 2 58390173 58390173 single base substitution A G missense_variant I212T 635T>C OV-AU 2 58390173 58390173 single base substitution A G missense_variant I243T 728T>C OV-AU 2 58390173 58390173 single base substitution A G missense_variant I271T 812T>C OV-AU 2 58390173 58390173 single base substitution A G missense_variant I276T 827T>C OV-AU 2 58390173 58390173 single base substitution A G missense_variant I285T 854T>C OV-AU 2 58393729 58393729 single base substitution G C intron_variant OV-AU 2 58393729 58393729 single base substitution G C upstream_gene_variant OV-AU 2 58395769 58395769 single base substitution G C intron_variant OV-AU 2 58395769 58395769 single base substitution G C upstream_gene_variant OV-AU 2 58398098 58398098 single base substitution T A intron_variant OV-AU 2 58399419 58399419 single base substitution G A intron_variant OV-AU 2 58414423 58414423 single base substitution T A intron_variant OV-AU 2 58418836 58418836 single base substitution G T intron_variant OV-AU 2 58421058 58421058 single base substitution G C intron_variant OV-AU 2 58421710 58421710 single base substitution A G intron_variant OV-AU 2 58433480 58433480 single base substitution T A intron_variant OV-AU 2 58434683 58434683 single base substitution A G intron_variant OV-AU 2 58442254 58442254 single base substitution A G intron_variant OV-AU 2 58451239 58451239 single base substitution A T intron_variant OV-AU 2 58455396 58455396 single base substitution G C intron_variant OV-AU 2 58457939 58457939 single base substitution C T intron_variant OV-AU 2 58457939 58457939 single base substitution C T upstream_gene_variant OV-AU 2 58458395 58458395 single base substitution T A intron_variant OV-AU 2 58458395 58458395 single base substitution T A upstream_gene_variant OV-AU 2 58463284 58463284 single base substitution A G intron_variant PACA-AU 2 58385706 58385706 single base substitution T A downstream_gene_variant PACA-AU 2 58386554 58386554 insertion of <=200bp - A 3_prime_UTR_variant PACA-AU 2 58386554 58386554 insertion of <=200bp - A downstream_gene_variant PACA-AU 2 58391168 58391168 single base substitution C A intron_variant PACA-AU 2 58395032 58395032 single base substitution G A intron_variant PACA-AU 2 58395032 58395032 single base substitution G A upstream_gene_variant PACA-AU 2 58405764 58405764 single base substitution T G intron_variant PACA-AU 2 58410033 58410033 single base substitution T A intron_variant PACA-AU 2 58416566 58416566 single base substitution A C intron_variant PACA-AU 2 58419379 58419379 deletion of <=200bp A - intron_variant PACA-AU 2 58421952 58421952 single base substitution G A intron_variant PACA-AU 2 58424749 58424749 insertion of <=200bp - A intron_variant PACA-AU 2 58425179 58425179 single base substitution T C intron_variant PACA-AU 2 58430999 58430999 single base substitution G A intron_variant PACA-AU 2 58433840 58433840 single base substitution C T intron_variant PACA-AU 2 58438304 58438304 single base substitution G A downstream_gene_variant PACA-AU 2 58438304 58438304 single base substitution G A intron_variant PACA-AU 2 58438613 58438617 deletion of <=200bp ATTTT - downstream_gene_variant PACA-AU 2 58438613 58438617 deletion of <=200bp ATTTT - intron_variant PACA-AU 2 58439996 58439996 single base substitution T C downstream_gene_variant PACA-AU 2 58439996 58439996 single base substitution T C intron_variant PACA-AU 2 58441136 58441136 single base substitution T G intron_variant PACA-AU 2 58442054 58442054 single base substitution T C intron_variant PACA-AU 2 58444306 58444306 single base substitution T G intron_variant PACA-AU 2 58446077 58446077 insertion of <=200bp - T intron_variant PACA-AU 2 58448288 58448288 single base substitution C T intron_variant PACA-AU 2 58452328 58452328 single base substitution A C intron_variant PACA-AU 2 58459146 58459146 single base substitution C T intron_variant PACA-AU 2 58459146 58459146 single base substitution C T upstream_gene_variant PACA-AU 2 58461502 58461502 single base substitution T C intron_variant PACA-AU 2 58461502 58461502 single base substitution T C upstream_gene_variant PACA-AU 2 58462541 58462541 single base substitution G T intron_variant PACA-AU 2 58465305 58465305 single base substitution T G intron_variant PACA-AU 2 58465858 58465858 single base substitution G T intron_variant PACA-AU 2 58466214 58466214 single base substitution T C intron_variant PACA-AU 2 58470776 58470776 single base substitution A G upstream_gene_variant PACA-AU 2 58473392 58473392 single base substitution A T upstream_gene_variant PACA-CA 2 58383153 58383153 single base substitution C T downstream_gene_variant PACA-CA 2 58384196 58384196 single base substitution A C downstream_gene_variant PACA-CA 2 58384932 58384932 single base substitution T C downstream_gene_variant PACA-CA 2 58386592 58386592 single base substitution G A 3_prime_UTR_variant PACA-CA 2 58386592 58386592 single base substitution G A downstream_gene_variant PACA-CA 2 58386881 58386881 single base substitution G A 3_prime_UTR_variant PACA-CA 2 58386881 58386881 single base substitution G A downstream_gene_variant PACA-CA 2 58388064 58388064 insertion of <=200bp - A downstream_gene_variant PACA-CA 2 58388064 58388064 insertion of <=200bp - A intron_variant PACA-CA 2 58388449 58388449 single base substitution G C downstream_gene_variant PACA-CA 2 58388449 58388449 single base substitution G C intron_variant PACA-CA 2 58391008 58391008 single base substitution T C intron_variant PACA-CA 2 58391377 58391377 single base substitution G C intron_variant PACA-CA 2 58392291 58392291 single base substitution C T intron_variant PACA-CA 2 58392874 58392874 single base substitution G A 3_prime_UTR_variant PACA-CA 2 58392874 58392874 single base substitution G A exon_variant PACA-CA 2 58392874 58392874 single base substitution G A missense_variant R109C 325C>T PACA-CA 2 58392874 58392874 single base substitution G A missense_variant R114C 340C>T PACA-CA 2 58392874 58392874 single base substitution G A missense_variant R167C 499C>T PACA-CA 2 58392874 58392874 single base substitution G A missense_variant R226C 676C>T PACA-CA 2 58392874 58392874 single base substitution G A missense_variant R231C 691C>T PACA-CA 2 58392874 58392874 single base substitution G A missense_variant R240C 718C>T PACA-CA 2 58392874 58392874 single base substitution G A missense_variant R78C 232C>T PACA-CA 2 58399937 58399937 single base substitution G A intron_variant PACA-CA 2 58400148 58400148 single base substitution G A intron_variant PACA-CA 2 58402040 58402040 single base substitution G A intron_variant PACA-CA 2 58402163 58402163 single base substitution A C intron_variant PACA-CA 2 58406038 58406038 single base substitution T C intron_variant PACA-CA 2 58406169 58406169 single base substitution A C intron_variant PACA-CA 2 58406623 58406623 single base substitution G C intron_variant PACA-CA 2 58408088 58408088 single base substitution C T intron_variant PACA-CA 2 58410180 58410180 single base substitution A T intron_variant PACA-CA 2 58415568 58415568 deletion of <=200bp T - intron_variant PACA-CA 2 58416045 58416045 single base substitution C T intron_variant PACA-CA 2 58418171 58418171 single base substitution C T intron_variant PACA-CA 2 58420370 58420370 single base substitution T C intron_variant PACA-CA 2 58422460 58422460 single base substitution G A intron_variant PACA-CA 2 58423875 58423875 single base substitution G T intron_variant PACA-CA 2 58425181 58425181 single base substitution C T intron_variant PACA-CA 2 58425930 58425930 single base substitution C T intron_variant PACA-CA 2 58426784 58426784 single base substitution A G intron_variant PACA-CA 2 58432522 58432522 single base substitution C A intron_variant PACA-CA 2 58434219 58434219 single base substitution G A intron_variant PACA-CA 2 58437782 58437782 single base substitution G A downstream_gene_variant PACA-CA 2 58437782 58437782 single base substitution G A intron_variant PACA-CA 2 58441823 58441823 single base substitution A G intron_variant PACA-CA 2 58442865 58442865 single base substitution G A intron_variant PACA-CA 2 58444814 58444814 single base substitution A C intron_variant PACA-CA 2 58445492 58445492 deletion of <=200bp G - intron_variant PACA-CA 2 58445847 58445847 single base substitution G A intron_variant PACA-CA 2 58446090 58446090 single base substitution T A intron_variant PACA-CA 2 58448070 58448070 single base substitution G A intron_variant PACA-CA 2 58448109 58448109 single base substitution A T intron_variant PACA-CA 2 58448317 58448317 single base substitution G A intron_variant PACA-CA 2 58449705 58449705 deletion of <=200bp A - intron_variant PACA-CA 2 58451036 58451036 single base substitution G A intron_variant PACA-CA 2 58451250 58451250 single base substitution A T intron_variant PACA-CA 2 58457091 58457091 single base substitution A G intron_variant PACA-CA 2 58457091 58457091 single base substitution A G upstream_gene_variant PACA-CA 2 58457373 58457373 insertion of <=200bp - A intron_variant PACA-CA 2 58457373 58457373 insertion of <=200bp - A upstream_gene_variant PACA-CA 2 58459548 58459548 single base substitution G T intron_variant PACA-CA 2 58459548 58459548 single base substitution G T upstream_gene_variant PACA-CA 2 58459677 58459677 single base substitution T G intron_variant PACA-CA 2 58459677 58459677 single base substitution T G upstream_gene_variant PACA-CA 2 58461103 58461103 single base substitution C T intron_variant PACA-CA 2 58461103 58461103 single base substitution C T upstream_gene_variant PACA-CA 2 58463195 58463195 single base substitution A G intron_variant PACA-CA 2 58470777 58470777 single base substitution G A upstream_gene_variant PAEN-AU 2 58415388 58415388 single base substitution G A intron_variant PAEN-AU 2 58420393 58420393 single base substitution C A intron_variant PAEN-AU 2 58421875 58421875 single base substitution C T intron_variant PAEN-AU 2 58430830 58430830 single base substitution T C intron_variant PAEN-IT 2 58419779 58419779 single base substitution G A intron_variant PAEN-IT 2 58420705 58420705 single base substitution C T intron_variant PAEN-IT 2 58461006 58461006 single base substitution G T intron_variant PAEN-IT 2 58461006 58461006 single base substitution G T upstream_gene_variant PBCA-DE 2 58383364 58383364 insertion of <=200bp - T downstream_gene_variant PBCA-DE 2 58383715 58383715 insertion of <=200bp - T downstream_gene_variant PBCA-DE 2 58385432 58385432 single base substitution C T downstream_gene_variant PBCA-DE 2 58387955 58387955 single base substitution G A downstream_gene_variant PBCA-DE 2 58387955 58387955 single base substitution G A intron_variant PBCA-DE 2 58397046 58397046 single base substitution A G intron_variant PBCA-DE 2 58397046 58397046 single base substitution A G upstream_gene_variant PBCA-DE 2 58414556 58414556 deletion of <=200bp G - intron_variant PBCA-DE 2 58417290 58417290 single base substitution T C intron_variant PBCA-DE 2 58418098 58418098 single base substitution T A intron_variant PBCA-DE 2 58454799 58454800 deletion of <=200bp TG - intron_variant PBCA-DE 2 58455417 58455417 single base substitution A C intron_variant PBCA-DE 2 58463610 58463610 single base substitution C A intron_variant PBCA-DE 2 58473373 58473373 single base substitution C T upstream_gene_variant PRAD-CA 2 58391368 58391368 single base substitution G T intron_variant PRAD-CA 2 58395279 58395279 single base substitution A C intron_variant PRAD-CA 2 58395279 58395279 single base substitution A C upstream_gene_variant PRAD-CA 2 58433911 58433911 single base substitution A T intron_variant PRAD-CA 2 58438559 58438559 single base substitution C A downstream_gene_variant PRAD-CA 2 58438559 58438559 single base substitution C A intron_variant PRAD-CA 2 58460634 58460634 single base substitution A G intron_variant PRAD-CA 2 58460634 58460634 single base substitution A G upstream_gene_variant PRAD-UK 2 58389721 58389721 single base substitution C T downstream_gene_variant PRAD-UK 2 58389721 58389721 single base substitution C T intron_variant PRAD-UK 2 58390231 58390231 single base substitution T A downstream_gene_variant PRAD-UK 2 58390231 58390231 single base substitution T A exon_variant PRAD-UK 2 58390231 58390231 single base substitution T A intron_variant PRAD-UK 2 58396535 58396535 single base substitution G C intron_variant PRAD-UK 2 58396535 58396535 single base substitution G C upstream_gene_variant PRAD-UK 2 58404510 58404510 single base substitution C T intron_variant PRAD-UK 2 58415766 58415766 single base substitution A G intron_variant PRAD-UK 2 58418546 58418546 single base substitution T G intron_variant PRAD-UK 2 58434957 58434957 single base substitution G C intron_variant PRAD-UK 2 58441790 58441790 single base substitution C G intron_variant PRAD-UK 2 58443518 58443527 deletion of <=200bp ACATAGCACT - intron_variant PRAD-UK 2 58447292 58447292 single base substitution G A intron_variant PRAD-UK 2 58448615 58448615 single base substitution C A intron_variant PRAD-UK 2 58448825 58448843 deletion of <=200bp CTATTACGGTAACATCTTA - intron_variant PRAD-UK 2 58470573 58470573 single base substitution T A upstream_gene_variant PRAD-UK 2 58471939 58471939 single base substitution C T upstream_gene_variant PRAD-UK 2 58473011 58473011 single base substitution A T upstream_gene_variant READ-US 2 58449079 58449079 single base substitution A C intron_variant READ-US 2 58449079 58449079 single base substitution A C missense_variant D123E 369T>G READ-US 2 58449079 58449079 single base substitution A C missense_variant D124E 372T>G READ-US 2 58449079 58449079 single base substitution A C missense_variant D65E 195T>G READ-US 2 58449079 58449079 single base substitution A C splice_region_variant RECA-EU 2 58392651 58392651 single base substitution C T intron_variant RECA-EU 2 58394431 58394431 single base substitution T A intron_variant RECA-EU 2 58394431 58394431 single base substitution T A upstream_gene_variant RECA-EU 2 58395672 58395672 single base substitution G A intron_variant RECA-EU 2 58395672 58395672 single base substitution G A upstream_gene_variant RECA-EU 2 58405519 58405519 single base substitution C T intron_variant RECA-EU 2 58415598 58415598 single base substitution A T intron_variant RECA-EU 2 58416059 58416059 single base substitution C T intron_variant RECA-EU 2 58418200 58418200 single base substitution C A intron_variant RECA-EU 2 58422861 58422861 single base substitution T A intron_variant RECA-EU 2 58424795 58424795 single base substitution C A intron_variant RECA-EU 2 58425902 58425902 single base substitution C T intron_variant RECA-EU 2 58431042 58431042 single base substitution A G intron_variant RECA-EU 2 58432156 58432156 single base substitution G T intron_variant RECA-EU 2 58438827 58438827 single base substitution G C downstream_gene_variant RECA-EU 2 58438827 58438827 single base substitution G C intron_variant RECA-EU 2 58443730 58443730 single base substitution T C intron_variant RECA-EU 2 58447417 58447417 single base substitution A C intron_variant RECA-EU 2 58460592 58460592 single base substitution C T intron_variant RECA-EU 2 58460592 58460592 single base substitution C T upstream_gene_variant RECA-EU 2 58461016 58461016 single base substitution G A intron_variant RECA-EU 2 58461016 58461016 single base substitution G A upstream_gene_variant SKCA-BR 2 58382691 58382691 single base substitution A C downstream_gene_variant SKCA-BR 2 58383056 58383057 deletion of <=200bp GT - downstream_gene_variant SKCA-BR 2 58383160 58383160 single base substitution A G downstream_gene_variant SKCA-BR 2 58383175 58383175 single base substitution T G downstream_gene_variant SKCA-BR 2 58383718 58383718 insertion of <=200bp - TTTTTG downstream_gene_variant SKCA-BR 2 58385353 58385353 single base substitution T C downstream_gene_variant SKCA-BR 2 58386448 58386448 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 58386448 58386448 single base substitution C T downstream_gene_variant SKCA-BR 2 58397113 58397113 single base substitution C A intron_variant SKCA-BR 2 58397113 58397113 single base substitution C A upstream_gene_variant SKCA-BR 2 58401955 58401955 single base substitution A G intron_variant SKCA-BR 2 58404776 58404776 single base substitution G A intron_variant SKCA-BR 2 58406207 58406207 single base substitution G A intron_variant SKCA-BR 2 58412386 58412386 single base substitution C T intron_variant SKCA-BR 2 58412472 58412472 single base substitution T C intron_variant SKCA-BR 2 58415653 58415653 single base substitution A G intron_variant SKCA-BR 2 58419407 58419407 single base substitution G C intron_variant SKCA-BR 2 58419775 58419775 single base substitution G A intron_variant SKCA-BR 2 58421420 58421420 single base substitution G A intron_variant SKCA-BR 2 58423875 58423875 single base substitution G A intron_variant SKCA-BR 2 58425337 58425337 single base substitution G A intron_variant SKCA-BR 2 58426181 58426181 single base substitution G A intron_variant SKCA-BR 2 58429374 58429374 insertion of <=200bp - TA intron_variant SKCA-BR 2 58429733 58429733 single base substitution A G intron_variant SKCA-BR 2 58429787 58429787 single base substitution G A intron_variant SKCA-BR 2 58441275 58441275 single base substitution A T intron_variant SKCA-BR 2 58444277 58444304 deletion of <=200bp GATTTATATATATATTTATATATTTTAT - intron_variant SKCA-BR 2 58444292 58444292 single base substitution T A intron_variant SKCA-BR 2 58444314 58444360 deletion of <=200bp TATATATATATATATATATATATATATATATATATATACACACACAC - intron_variant SKCA-BR 2 58444330 58444356 deletion of <=200bp TATATATATATATATATATATACACAC - intron_variant SKCA-BR 2 58444342 58444356 deletion of <=200bp TATATATATACACAC - intron_variant SKCA-BR 2 58444348 58444358 deletion of <=200bp TATACACACAC - intron_variant SKCA-BR 2 58446306 58446306 single base substitution A T intron_variant SKCA-BR 2 58447317 58447317 single base substitution G A intron_variant SKCA-BR 2 58449967 58449967 single base substitution G A intron_variant SKCA-BR 2 58451825 58451825 single base substitution A T intron_variant SKCA-BR 2 58454848 58454848 single base substitution G A intron_variant SKCA-BR 2 58457542 58457542 single base substitution A C intron_variant SKCA-BR 2 58457542 58457542 single base substitution A C upstream_gene_variant SKCA-BR 2 58461917 58461917 single base substitution C T intron_variant SKCA-BR 2 58461917 58461917 single base substitution C T upstream_gene_variant SKCA-BR 2 58466841 58466841 single base substitution G A intron_variant SKCA-BR 2 58467245 58467246 deletion of <=200bp TA - intron_variant SKCA-BR 2 58469688 58469688 single base substitution C T upstream_gene_variant SKCA-BR 2 58472108 58472108 single base substitution G C upstream_gene_variant SKCA-BR 2 58472229 58472229 single base substitution C T upstream_gene_variant SKCA-BR 2 58472249 58472249 single base substitution C T upstream_gene_variant SKCM-US 2 58390196 58390196 single base substitution C T downstream_gene_variant SKCM-US 2 58390196 58390196 single base substitution C T exon_variant SKCM-US 2 58390196 58390196 single base substitution C T synonymous_variant L115L 345G>A SKCM-US 2 58390196 58390196 single base substitution C T synonymous_variant L146L 438G>A SKCM-US 2 58390196 58390196 single base substitution C T synonymous_variant L204L 612G>A SKCM-US 2 58390196 58390196 single base substitution C T synonymous_variant L235L 705G>A SKCM-US 2 58390196 58390196 single base substitution C T synonymous_variant L263L 789G>A SKCM-US 2 58390196 58390196 single base substitution C T synonymous_variant L268L 804G>A SKCM-US 2 58390196 58390196 single base substitution C T synonymous_variant L277L 831G>A STAD-US 2 58386561 58386561 single base substitution C T 3_prime_UTR_variant STAD-US 2 58386561 58386561 single base substitution C T downstream_gene_variant STAD-US 2 58386659 58386659 single base substitution A G 3_prime_UTR_variant STAD-US 2 58386659 58386659 single base substitution A G downstream_gene_variant STAD-US 2 58386762 58386762 single base substitution T G 3_prime_UTR_variant STAD-US 2 58386762 58386762 single base substitution T G downstream_gene_variant STAD-US 2 58386904 58386904 single base substitution T C downstream_gene_variant STAD-US 2 58386904 58386904 single base substitution T C missense_variant H258R 773A>G STAD-US 2 58386904 58386904 single base substitution T C missense_variant H347R 1040A>G STAD-US 2 58386904 58386904 single base substitution T C missense_variant H375R 1124A>G STAD-US 2 58386904 58386904 single base substitution T C missense_variant H380R 1139A>G STAD-US 2 58392975 58392975 single base substitution G C 3_prime_UTR_variant STAD-US 2 58392975 58392975 single base substitution G C missense_variant A133G 398C>G STAD-US 2 58392975 58392975 single base substitution G C missense_variant A192G 575C>G STAD-US 2 58392975 58392975 single base substitution G C missense_variant A197G 590C>G STAD-US 2 58392975 58392975 single base substitution G C missense_variant A206G 617C>G STAD-US 2 58392975 58392975 single base substitution G C missense_variant A44G 131C>G STAD-US 2 58392975 58392975 single base substitution G C missense_variant A75G 224C>G STAD-US 2 58392975 58392975 single base substitution G C missense_variant A80G 239C>G STAD-US 2 58392975 58392975 single base substitution G C upstream_gene_variant STAD-US 2 58392978 58392978 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 2 58392978 58392978 deletion of <=200bp A - frameshift_variant L132 STAD-US 2 58392978 58392978 deletion of <=200bp A - frameshift_variant L191 STAD-US 2 58392978 58392978 deletion of <=200bp A - frameshift_variant L196 STAD-US 2 58392978 58392978 deletion of <=200bp A - frameshift_variant L205 STAD-US 2 58392978 58392978 deletion of <=200bp A - frameshift_variant L43 STAD-US 2 58392978 58392978 deletion of <=200bp A - frameshift_variant L74 STAD-US 2 58392978 58392978 deletion of <=200bp A - frameshift_variant L79 STAD-US 2 58392978 58392978 deletion of <=200bp A - upstream_gene_variant STAD-US 2 58431275 58431275 single base substitution A G intron_variant STAD-US 2 58431275 58431275 single base substitution A G missense_variant L153S 458T>C STAD-US 2 58431275 58431275 single base substitution A G missense_variant L154S 461T>C STAD-US 2 58431275 58431275 single base substitution A G missense_variant L37S 110T>C STAD-US 2 58431275 58431275 single base substitution A G missense_variant L95S 284T>C STAD-US 2 58459193 58459193 single base substitution C T intron_variant STAD-US 2 58459193 58459193 single base substitution C T missense_variant A50T 148G>A STAD-US 2 58459193 58459193 single base substitution C T missense_variant A51T 151G>A STAD-US 2 58459193 58459193 single base substitution C T upstream_gene_variant THCA-SA 2 58387000 58387000 single base substitution C T downstream_gene_variant THCA-SA 2 58387000 58387000 single base substitution C T intron_variant THCA-SA 2 58388696 58388696 single base substitution A G downstream_gene_variant THCA-SA 2 58388696 58388696 single base substitution A G synonymous_variant S210S 630T>C THCA-SA 2 58388696 58388696 single base substitution A G synonymous_variant S268S 804T>C THCA-SA 2 58388696 58388696 single base substitution A G synonymous_variant S299S 897T>C THCA-SA 2 58388696 58388696 single base substitution A G synonymous_variant S327S 981T>C THCA-SA 2 58388696 58388696 single base substitution A G synonymous_variant S332S 996T>C UCEC-US 2 58386545 58386545 single base substitution G A 3_prime_UTR_variant UCEC-US 2 58386545 58386545 single base substitution G A downstream_gene_variant UCEC-US 2 58386671 58386671 single base substitution T C 3_prime_UTR_variant UCEC-US 2 58386671 58386671 single base substitution T C downstream_gene_variant UCEC-US 2 58386773 58386773 single base substitution G A 3_prime_UTR_variant UCEC-US 2 58386773 58386773 single base substitution G A downstream_gene_variant UCEC-US 2 58392950 58392950 single base substitution G A 3_prime_UTR_variant UCEC-US 2 58392950 58392950 single base substitution G A synonymous_variant F141F 423C>T UCEC-US 2 58392950 58392950 single base substitution G A synonymous_variant F200F 600C>T UCEC-US 2 58392950 58392950 single base substitution G A synonymous_variant F205F 615C>T UCEC-US 2 58392950 58392950 single base substitution G A synonymous_variant F214F 642C>T UCEC-US 2 58392950 58392950 single base substitution G A synonymous_variant F52F 156C>T UCEC-US 2 58392950 58392950 single base substitution G A synonymous_variant F83F 249C>T UCEC-US 2 58392950 58392950 single base substitution G A synonymous_variant F88F 264C>T UCEC-US 2 58392950 58392950 single base substitution G A upstream_gene_variant UCEC-US 2 58431291 58431291 single base substitution A C intron_variant UCEC-US 2 58431291 58431291 single base substitution A C missense_variant L148V 442T>G UCEC-US 2 58431291 58431291 single base substitution A C missense_variant L149V 445T>G UCEC-US 2 58431291 58431291 single base substitution A C missense_variant L32V 94T>G UCEC-US 2 58431291 58431291 single base substitution A C missense_variant L90V 268T>G UCEC-US 2 58449154 58449154 single base substitution T G exon_variant UCEC-US 2 58449154 58449154 single base substitution T G intron_variant UCEC-US 2 58449154 58449154 single base substitution T G missense_variant Q40H 120A>C UCEC-US 2 58449154 58449154 single base substitution T G missense_variant Q98H 294A>C UCEC-US 2 58449154 58449154 single base substitution T G missense_variant Q99H 297A>C UCEC-US 2 58456962 58456962 single base substitution C T intron_variant UCEC-US 2 58456962 58456962 single base substitution C T missense_variant R67Q 200G>A UCEC-US 2 58456962 58456962 single base substitution C T missense_variant R68Q 203G>A UCEC-US 2 58456962 58456962 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HX17T COSM1614983 c.1049A>T p.Q350L Substitution - Missense 2:58160151-58160151 - TCGA-AA-3492-01 COSM1408758 c.137T>C p.L46S Substitution - Missense 2:58232072-58232072 - TCGA-AG-A002-01 COSM260838 c.1011C>T p.C337C Substitution - coding silent 2:58161531-58161531 - TCGA-24-2267-01 COSM70732 c.1100C>T p.T367I Substitution - Missense 2:58159793-58159793 - HCC137 COSM1614985 c.912T>C p.T304T Substitution - coding silent 2:58161630-58161630 - TCGA-BR-4184-01 COSM4094958 c.151G>A p.A51T Substitution - Missense 2:58232058-58232058 - TCGA-A8-A07B-01 COSM443058 c.213A>T p.Q71H Substitution - Missense 2:58229817-58229817 - SH-1679 COSM5019593 c.881C>T p.A294V Substitution - Missense 2:58162888-58162888 - TCGA-AC-A23H-01 COSM3839743 c.156-1G>C p.? Unknown 2:58229875-58229875 - S07-16280-TP COSM4991775 c.1026G>A p.L342L Substitution - coding silent 2:58160174-58160174 - 2250167 COSM5030061 c.1092+5G>C p.? Unknown 2:58160103-58160103 - TCGA-BR-6452-01 COSM4094956 c.575C>G p.A192G Substitution - Missense 2:58165840-58165840 - 587284 COSM1206517 c.472-2A>G p.? Unknown 2:58198664-58198664 - TCGA-DM-A0X9-01 COSM1408753 c.1014A>G p.L338L Substitution - coding silent 2:58161528-58161528 - TCGA-AP-A056-01 COSM1021961 c.203G>A p.R68Q Substitution - Missense 2:58229827-58229827 - TCGA-BR-7851-01 COSM4094957 c.461T>C p.L154S Substitution - Missense 2:58204140-58204140 - LUAD-S01315 COSM345342 c.330C>T p.F110F Substitution - coding silent 2:58221986-58221986 - TCGA-CA-6717-01 COSM1021961 c.203G>A p.R68Q Substitution - Missense 2:58229827-58229827 - ESCC-190T COSM3939119 c.80G>T p.G27V Substitution - Missense 2:58241234-58241234 - T2269 COSM4683379 c.680G>T p.R227I Substitution - Missense 2:58165735-58165735 - Gp2D COSM4628088 c.951T>C p.G317G Substitution - coding silent 2:58161591-58161591 - TCGA-D1-A17Q-01 COSM1021955 c.600C>T p.F200F Substitution - coding silent 2:58165815-58165815 - B105-1 COSM1752596 c.649G>A p.E217K Substitution - Missense 2:58165766-58165766 - TCGA-A4-A5Y0-01 COSM3991380 c.1116A>G p.G372G Substitution - coding silent 2:58159777-58159777 - TCGA-EE-A3J5-06 COSM3582380 c.789G>A p.L263L Substitution - coding silent 2:58163061-58163061 - 2292382 COSM4610175 c.313C>T p.P105S Substitution - Missense 2:58222003-58222003 - PD4116a COSM3664537 c.822-7C>T p.? Unknown 2:58162954-58162954 - TCGA-24-2260-01 COSM70733 c.329T>C p.F110S Substitution - Missense 2:58221987-58221987 - 16 COSM3735575 c.256G>T p.E86* Substitution - Nonsense 2:58226745-58226745 - B105-0 COSM1752597 c.471G>A p.K157K Substitution - coding silent 2:58204130-58204130 - DM51 COSM5608709 c.1099_1100insATTA p.T367fs*>11 Insertion - Frameshift 2:58159793-58159794 - TCGA-C5-A1BL-01 COSM4836938 c.961G>A p.D321N Substitution - Missense 2:58161581-58161581 - TCGA-B5-A0JY-01 COSM1021959 c.297A>C p.Q99H Substitution - Missense 2:58222019-58222019 - ASHPC_0001_Pa_P_2 COSM3782218 c.676C>T p.R226C Substitution - Missense 2:58165739-58165739 - PT33 COSM5908098 c.542G>C p.S181T Substitution - Missense 2:58165873-58165873 - TCGA-46-3768-01 COSM722220 c.621C>A p.I207I Substitution - coding silent 2:58165794-58165794 - MDA-MB-435 COSM1668960 c.661C>T p.R221W Substitution - Missense 2:58165754-58165754 - HCC137T COSM1614985 c.912T>C p.T304T Substitution - coding silent 2:58161630-58161630 - MDA-N COSM1668960 c.661C>T p.R221W Substitution - Missense 2:58165754-58165754 - ESO-859 COSM1238850 c.949G>A p.G317S Substitution - Missense 2:58161593-58161593 - AOCS-170-3-5 COSM4141178 c.812T>C p.I271T Substitution - Missense 2:58163038-58163038 - B105-0-Tumor COSM1752597 c.471G>A p.K157K Substitution - coding silent 2:58204130-58204130 - HCC137 COSM1614984 c.914T>C p.M305T Substitution - Missense 2:58161628-58161628 - HCC137T COSM1614984 c.914T>C p.M305T Substitution - Missense 2:58161628-58161628 - S04-22711-TP COSM4991777 c.745C>T p.P249S Substitution - Missense 2:58163464-58163464 - TCGA-B9-5156-01 COSM3991381 c.432T>C p.S144S Substitution - coding silent 2:58204169-58204169 - TCGA-AD-5900-01 COSM1408754 c.836G>A p.S279N Substitution - Missense 2:58162933-58162933 - SCMC_RM2_ COSM1408755 c.622G>A p.D208N Substitution - Missense 2:58165793-58165793 - SNU-C1 COSM3053714 c.272T>A p.L91* Substitution - Nonsense 2:58226729-58226729 - RK210_C01 COSM3743846 c.500T>C p.V167A Substitution - Missense 2:58198634-58198634 - TCGA-63-5131-01 COSM722217 c.103G>T p.D35Y Substitution - Missense 2:58232106-58232106 - M14 COSM1668960 c.661C>T p.R221W Substitution - Missense 2:58165754-58165754 - 2178 COSM5017135 c.288G>T p.K96N Substitution - Missense 2:58222028-58222028 - AOCS-170-1-8 COSM4141178 c.812T>C p.I271T Substitution - Missense 2:58163038-58163038 - SH-1641 COSM5019390 c.1077T>C p.C359C Substitution - coding silent 2:58160123-58160123 - TCGA-BR-6452-01 COSM4094955 c.1124A>G p.H375R Substitution - Missense 2:58159769-58159769 - RMS66_ COSM4987961 c.611T>C p.M204T Substitution - Missense 2:58165804-58165804 - 88 COSM5014226 c.733C>T p.P245S Substitution - Missense 2:58163476-58163476 - TCGA-DI-A0WH-01 COSM1021953 c.895G>A p.E299K Substitution - Missense 2:58162874-58162874 - S04-22711-TP COSM4991776 c.746C>T p.P249L Substitution - Missense 2:58163463-58163463 - TCGA-18-3417-01 COSM722218 c.501G>T p.V167V Substitution - coding silent 2:58198633-58198633 - TCGA-F4-6570-01 COSM1408759 c.29G>A p.R10H Substitution - Missense 2:58241285-58241285 - SNUH_G47_S1 COSM4001713 c.981T>C p.S327S Substitution - coding silent 2:58161561-58161561 - ESCC_BICR_039T COSM5429616 c.63G>A p.S21S Substitution - coding silent 2:58241251-58241251 - TCGA-G5-6572-01 COSM3426563 c.372T>G p.D124E Substitution - Missense 2:58221944-58221944 - S03-45671-TP COSM4991779 c.69C>T p.T23T Substitution - coding silent 2:58241245-58241245 - RK056_C01 COSM1632067 c.276A>T p.E92D Substitution - Missense 2:58222040-58222040 - S06-38853-TP COSM4991778 c.108C>T p.F36F Substitution - coding silent 2:58232101-58232101 - B105-1-Tumor COSM1752596 c.649G>A p.E217K Substitution - Missense 2:58165766-58165766 - I2L-P7-Tumor-Organoid COSM4628088 c.951T>C p.G317G Substitution - coding silent 2:58161591-58161591 - 2011-2353:2012-296-T COSM4606277 c.156-7A>G p.? Unknown 2:58229881-58229881 - TCGA-A6-6780-01 COSM1408755 c.622G>A p.D208N Substitution - Missense 2:58165793-58165793 - A5 COSM3053711 c.671C>A p.T224K Substitution - Missense 2:58165744-58165744 - SNU-175 COSM3053717 c.222G>A p.M74I Substitution - Missense 2:58226779-58226779 - TC71 COSM4583567 c.934G>C p.A312P Substitution - Missense 2:58161608-58161608 - TCGA-EK-A3GK-01 COSM4853876 c.865G>C p.E289Q Substitution - Missense 2:58162904-58162904 - 19 COSM5745900 c.290A>G p.N97S Substitution - Missense 2:58222026-58222026 - TCGA-CA-6717-01 COSM1408756 c.621C>T p.I207I Substitution - coding silent 2:58165794-58165794 - TCGA-AP-A056-01 COSM1021957 c.445T>G p.L149V Substitution - Missense 2:58204156-58204156 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.741421 2p16.1 608111

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.F110S c.329T>C 2 58449122 OV C A Missense p.D35Y c.103G>T 2 58459241 LUSC C A Synonymous p.A129A c.387G>T 2 58431349 CM C A Synonymous p.S21S c.63G>T 2 58468386 LUAD C A Synonymous p.V167V c.501G>T 2 58425768 LUSC C G Missense p.E220Q c.658G>C 2 58392907 CM C T Missense p.G322S c.964G>A 2 58388728 ESCA C T Synonymous p.L268L c.804G>A 2 58390196 CM G A Missense p.T372I c.1115C>T 2 58386928 OV G C Missense p.P365A c.1093C>G 2 58387257 LUAD G T Synonymous p.I212I c.636C>A 2 58392929 LUSC T A IntronicSNV . c.555+8909A>T 2 58416805 CLL T A Missense p.E92D c.276A>T 2 58449175 HC T A Missense p.Q180L c.539A>T 2 58425730 HNSC T A Missense p.Q71H c.213A>T 2 58456952 BRCA T C Missense p.M310V c.928A>G 2 58388764 HNSC