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 14 55310582 55310582 + 3'UTR SNP G G C TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr14:55310582G>C BLCA 14 55310749 55310749 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr14:55310749G>A c.739C>T c.(739-741)Ctc>Ttc p.L247F BLCA 14 55310786 55310786 + Silent SNP G G A TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr14:55310786G>A c.702C>T c.(700-702)ttC>ttT p.F234F BRCA 14 55310747 55310747 + Silent SNP G G A TCGA-A8-A09X-01A-11W-A019-09 TCGA-A8-A09X-10A-01W-A021-09 g.chr14:55310747G>A c.741C>T c.(739-741)ctC>ctT p.L247L BRCA 14 55369216 55369216 + Missense_Mutation SNP C C T TCGA-E2-A15R-01A-11D-A10Y-09 TCGA-E2-A15R-10A-01D-A110-09 g.chr14:55369216C>T c.166G>A c.(166-168)Gag>Aag p.E56K CESC 14 55313836 55313836 + Silent SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr14:55313836G>T c.522C>A c.(520-522)atC>atA p.I174I DLBC 14 55369053 55369053 + Missense_Mutation SNP T T C TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr14:55369053T>C c.329A>G c.(328-330)cAg>cGg p.Q110R ESCA 14 55310767 55310767 + Silent SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr14:55310767G>T c.721C>A c.(721-723)Cgg>Agg p.R241R ESCA 14 55312530 55312530 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 g.chr14:55312530C>T c.582G>A c.(580-582)acG>acA p.T194T HNSC 14 55369235 55369235 + Frame_Shift_Del DEL G G - TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 g.chr14:55369235delG c.147delC c.(145-147)cccfs p.P49fs LUAD 14 55310797 55310797 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 g.chr14:55310797A>T c.691T>A c.(691-693)Ttg>Atg p.L231M LUAD 14 55310842 55310842 + Missense_Mutation SNP G G C TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr14:55310842G>C c.646C>G c.(646-648)Cga>Gga p.R216G LUAD 14 55312565 55312565 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 g.chr14:55312565C>G c.547G>C c.(547-549)Gag>Cag p.E183Q LUSC 14 55312518 55312519 + Missense_Mutation DNP CC CC AA TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 g.chr14:55312518_55312519CC>AA c.593_594GG>TT c.(592-594)cGG>cTT p.R198L LUSC 14 55369083 55369083 + Missense_Mutation SNP G G A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr14:55369083G>A c.299C>T c.(298-300)tCg>tTg p.S100L OV 14 55326408 55326408 + Missense_Mutation SNP T T A TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 g.chr14:55326408T>A c.500A>T c.(499-501)aAa>aTa p.K167I PAAD 14 55326402 55326402 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:55326402G>A c.506C>T c.(505-507)gCg>gTg p.A169V SKCM 14 55310756 55310756 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr14:55310756G>A c.732C>T c.(730-732)ttC>ttT p.F244F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 14 55312504 55312504 single base substitution C T exon_variant BLCA-CN 14 55312504 55312504 single base substitution C T intron_variant BLCA-CN 14 55312504 55312504 single base substitution C T missense_variant G203E 608G>A BLCA-CN 14 55312546 55312546 single base substitution A T exon_variant BLCA-CN 14 55312546 55312546 single base substitution A T intron_variant BLCA-CN 14 55312546 55312546 single base substitution A T missense_variant I189N 566T>A BLCA-US 14 55310749 55310749 single base substitution G A exon_variant BLCA-US 14 55310749 55310749 single base substitution G A intron_variant BLCA-US 14 55310749 55310749 single base substitution G A missense_variant L247F 739C>T BRCA-EU 14 55305815 55305815 single base substitution A G downstream_gene_variant BRCA-EU 14 55306589 55306589 single base substitution A G downstream_gene_variant BRCA-EU 14 55307487 55307487 single base substitution G C downstream_gene_variant BRCA-EU 14 55307568 55307568 single base substitution G C downstream_gene_variant BRCA-EU 14 55308098 55308098 single base substitution C G downstream_gene_variant BRCA-EU 14 55308215 55308215 single base substitution C T downstream_gene_variant BRCA-EU 14 55311464 55311464 single base substitution C G intron_variant BRCA-EU 14 55313186 55313186 single base substitution G C intron_variant BRCA-EU 14 55314562 55314562 single base substitution T A intron_variant BRCA-EU 14 55314784 55314784 single base substitution T A intron_variant BRCA-EU 14 55315229 55315229 single base substitution T C intron_variant BRCA-EU 14 55316212 55316212 single base substitution G C intron_variant BRCA-EU 14 55318141 55318141 single base substitution C G intron_variant BRCA-EU 14 55318161 55318161 single base substitution G A intron_variant BRCA-EU 14 55319272 55319272 single base substitution C T intron_variant BRCA-EU 14 55320534 55320534 single base substitution C G intron_variant BRCA-EU 14 55321715 55321715 single base substitution G C intron_variant BRCA-EU 14 55323506 55323506 single base substitution C T intron_variant BRCA-EU 14 55324906 55324906 single base substitution C T intron_variant BRCA-EU 14 55326081 55326081 single base substitution T G intron_variant BRCA-EU 14 55326782 55326782 single base substitution C G intron_variant BRCA-EU 14 55327999 55327999 single base substitution G A intron_variant BRCA-EU 14 55328598 55328598 single base substitution C G intron_variant BRCA-EU 14 55328785 55328785 single base substitution C T intron_variant BRCA-EU 14 55328930 55328930 single base substitution A T intron_variant BRCA-EU 14 55332240 55332240 single base substitution A C intron_variant BRCA-EU 14 55333347 55333347 single base substitution G C intron_variant BRCA-EU 14 55333406 55333406 single base substitution G C intron_variant BRCA-EU 14 55334003 55334003 single base substitution C A intron_variant BRCA-EU 14 55335569 55335569 single base substitution C T intron_variant BRCA-EU 14 55337545 55337545 single base substitution G C intron_variant BRCA-EU 14 55338600 55338600 single base substitution G C intron_variant BRCA-EU 14 55340337 55340337 single base substitution G C intron_variant BRCA-EU 14 55340965 55340965 single base substitution G A intron_variant BRCA-EU 14 55341558 55341558 single base substitution G C intron_variant BRCA-EU 14 55342366 55342366 single base substitution C T intron_variant BRCA-EU 14 55342392 55342392 single base substitution G C intron_variant BRCA-EU 14 55343715 55343715 single base substitution T A intron_variant BRCA-EU 14 55343854 55343854 single base substitution G C intron_variant BRCA-EU 14 55344782 55344782 single base substitution G C intron_variant BRCA-EU 14 55346391 55346391 single base substitution G C intron_variant BRCA-EU 14 55346613 55346613 single base substitution G A intron_variant BRCA-EU 14 55348173 55348173 deletion of <=200bp A - intron_variant BRCA-EU 14 55348349 55348349 single base substitution G C intron_variant BRCA-EU 14 55348453 55348453 single base substitution C T intron_variant BRCA-EU 14 55348807 55348807 single base substitution G A intron_variant BRCA-EU 14 55349495 55349495 single base substitution G A intron_variant BRCA-EU 14 55349576 55349576 single base substitution G A intron_variant BRCA-EU 14 55349997 55349997 single base substitution G C intron_variant BRCA-EU 14 55350371 55350371 single base substitution T A intron_variant BRCA-EU 14 55350811 55350811 single base substitution G C intron_variant BRCA-EU 14 55351724 55351724 single base substitution C A intron_variant BRCA-EU 14 55351725 55351725 single base substitution T G intron_variant BRCA-EU 14 55355014 55355014 single base substitution G C intron_variant BRCA-EU 14 55355767 55355767 single base substitution T C intron_variant BRCA-EU 14 55355811 55355811 single base substitution C T intron_variant BRCA-EU 14 55356600 55356600 single base substitution G T intron_variant BRCA-EU 14 55356693 55356693 single base substitution C G intron_variant BRCA-EU 14 55357442 55357442 single base substitution T C intron_variant BRCA-EU 14 55360129 55360129 single base substitution T C intron_variant BRCA-EU 14 55364013 55364013 deletion of <=200bp T - intron_variant BRCA-EU 14 55366076 55366076 single base substitution G C intron_variant BRCA-EU 14 55367014 55367014 single base substitution T G intron_variant BRCA-EU 14 55367723 55367723 deletion of <=200bp A - intron_variant BRCA-EU 14 55368131 55368131 single base substitution A G intron_variant BRCA-EU 14 55369522 55369522 single base substitution C G 5_prime_UTR_variant BRCA-EU 14 55369522 55369522 single base substitution C G exon_variant BRCA-EU 14 55369522 55369522 single base substitution C G upstream_gene_variant BRCA-EU 14 55370050 55370050 single base substitution C G upstream_gene_variant BRCA-EU 14 55370683 55370683 single base substitution G C upstream_gene_variant BRCA-EU 14 55370991 55370991 single base substitution G A upstream_gene_variant BRCA-EU 14 55371261 55371261 single base substitution G A upstream_gene_variant BRCA-EU 14 55372464 55372464 single base substitution C T upstream_gene_variant BRCA-EU 14 55373225 55373225 single base substitution G C upstream_gene_variant BRCA-EU 14 55374285 55374285 single base substitution G T upstream_gene_variant BRCA-EU 14 55374349 55374349 deletion of <=200bp A - upstream_gene_variant BRCA-EU 14 55374455 55374455 single base substitution C T upstream_gene_variant BRCA-FR 14 55307568 55307568 single base substitution G C downstream_gene_variant BRCA-FR 14 55324486 55324486 single base substitution G T intron_variant BRCA-FR 14 55326060 55326060 single base substitution C T intron_variant BRCA-FR 14 55336735 55336735 single base substitution G C intron_variant BRCA-FR 14 55337545 55337545 single base substitution G C intron_variant BRCA-FR 14 55338623 55338623 single base substitution C T intron_variant BRCA-FR 14 55340337 55340337 single base substitution G C intron_variant BRCA-FR 14 55340530 55340530 single base substitution G C intron_variant BRCA-FR 14 55343854 55343854 single base substitution G C intron_variant BRCA-FR 14 55344782 55344782 single base substitution G C intron_variant BRCA-FR 14 55359074 55359074 single base substitution G A intron_variant BRCA-FR 14 55363406 55363406 single base substitution G A intron_variant BRCA-UK 14 55330276 55330276 single base substitution G C intron_variant BRCA-UK 14 55340965 55340965 single base substitution G A intron_variant BRCA-UK 14 55357442 55357442 single base substitution T C intron_variant BRCA-US 14 55309825 55309825 single base substitution T G 3_prime_UTR_variant BRCA-US 14 55309825 55309825 single base substitution T G exon_variant BRCA-US 14 55309825 55309825 single base substitution T G intron_variant BRCA-US 14 55310747 55310747 single base substitution G A exon_variant BRCA-US 14 55310747 55310747 single base substitution G A intron_variant BRCA-US 14 55310747 55310747 single base substitution G A synonymous_variant L247L 741C>T BRCA-US 14 55369216 55369216 single base substitution C T exon_variant BRCA-US 14 55369216 55369216 single base substitution C T missense_variant E56K 166G>A BRCA-US 14 55369216 55369216 single base substitution C T upstream_gene_variant CESC-US 14 55313836 55313836 single base substitution G T exon_variant CESC-US 14 55313836 55313836 single base substitution G T intron_variant CESC-US 14 55313836 55313836 single base substitution G T synonymous_variant I174I 522C>A CLLE-ES 14 55315559 55315559 single base substitution G T intron_variant CLLE-ES 14 55324502 55324502 single base substitution G A intron_variant CLLE-ES 14 55347179 55347179 insertion of <=200bp - AC intron_variant CLLE-ES 14 55347441 55347441 single base substitution T C intron_variant CLLE-ES 14 55349751 55349751 single base substitution T G intron_variant CLLE-ES 14 55355764 55355764 single base substitution G A intron_variant CLLE-ES 14 55363721 55363721 single base substitution A C intron_variant COCA-CN 14 55312530 55312530 single base substitution C T exon_variant COCA-CN 14 55312530 55312530 single base substitution C T intron_variant COCA-CN 14 55312530 55312530 single base substitution C T synonymous_variant T194T 582G>A COCA-CN 14 55313825 55313825 single base substitution C A exon_variant COCA-CN 14 55313825 55313825 single base substitution C A intron_variant COCA-CN 14 55313825 55313825 single base substitution C A missense_variant R178I 533G>T COCA-CN 14 55322745 55322745 single base substitution G A intron_variant COCA-CN 14 55349961 55349961 single base substitution G A intron_variant ESAD-UK 14 55306250 55306250 single base substitution A G downstream_gene_variant ESAD-UK 14 55308015 55308015 single base substitution C T downstream_gene_variant ESAD-UK 14 55309275 55309275 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 14 55309275 55309275 insertion of <=200bp - A downstream_gene_variant ESAD-UK 14 55309275 55309275 insertion of <=200bp - A exon_variant ESAD-UK 14 55311335 55311335 single base substitution G A intron_variant ESAD-UK 14 55312075 55312075 single base substitution G A intron_variant ESAD-UK 14 55312118 55312118 single base substitution C T intron_variant ESAD-UK 14 55312174 55312174 single base substitution C A intron_variant ESAD-UK 14 55312608 55312608 single base substitution C T intron_variant ESAD-UK 14 55313260 55313260 single base substitution G A intron_variant ESAD-UK 14 55314442 55314442 single base substitution C A intron_variant ESAD-UK 14 55317252 55317252 single base substitution A T intron_variant ESAD-UK 14 55318965 55318965 single base substitution A C intron_variant ESAD-UK 14 55321452 55321452 single base substitution G C intron_variant ESAD-UK 14 55335586 55335586 single base substitution G T intron_variant ESAD-UK 14 55344689 55344689 single base substitution A C intron_variant ESAD-UK 14 55345320 55345320 single base substitution C T intron_variant ESAD-UK 14 55350447 55350447 single base substitution C A intron_variant ESAD-UK 14 55354400 55354400 single base substitution G C intron_variant ESAD-UK 14 55359608 55359608 single base substitution C A intron_variant ESAD-UK 14 55360773 55360773 single base substitution A G intron_variant ESAD-UK 14 55364298 55364298 single base substitution C T intron_variant ESAD-UK 14 55365989 55365989 single base substitution G A intron_variant ESAD-UK 14 55366750 55366750 single base substitution T C intron_variant ESAD-UK 14 55372008 55372008 single base substitution C A upstream_gene_variant ESAD-UK 14 55372135 55372135 single base substitution G C upstream_gene_variant ESAD-UK 14 55374216 55374216 single base substitution G A upstream_gene_variant KIRP-US 14 55310765 55310765 single base substitution C T exon_variant KIRP-US 14 55310765 55310765 single base substitution C T intron_variant KIRP-US 14 55310765 55310765 single base substitution C T synonymous_variant R241R 723G>A LAML-KR 14 55312088 55312088 single base substitution C T intron_variant LAML-KR 14 55322424 55322424 single base substitution G C intron_variant LAML-KR 14 55322425 55322425 single base substitution G A intron_variant LAML-KR 14 55340418 55340418 single base substitution G A intron_variant LAML-KR 14 55349885 55349885 single base substitution T A intron_variant LAML-KR 14 55366830 55366830 single base substitution G A intron_variant LICA-FR 14 55321441 55321441 single base substitution A C intron_variant LICA-FR 14 55327257 55327257 deletion of <=200bp T - intron_variant LICA-FR 14 55369564 55369564 single base substitution C G 5_prime_UTR_variant LICA-FR 14 55369564 55369564 single base substitution C G upstream_gene_variant LINC-JP 14 55309965 55309965 single base substitution T C 3_prime_UTR_variant LINC-JP 14 55309965 55309965 single base substitution T C exon_variant LINC-JP 14 55309965 55309965 single base substitution T C intron_variant LINC-JP 14 55313196 55313196 single base substitution C A intron_variant LINC-JP 14 55313607 55313607 single base substitution C T intron_variant LINC-JP 14 55322460 55322460 single base substitution A C intron_variant LINC-JP 14 55332143 55332143 single base substitution C T exon_variant LINC-JP 14 55332143 55332143 single base substitution C T missense_variant D119N 355G>A LINC-JP 14 55356631 55356631 single base substitution G A intron_variant LIRI-JP 14 55304364 55304364 single base substitution G T downstream_gene_variant LIRI-JP 14 55305072 55305072 single base substitution G A downstream_gene_variant LIRI-JP 14 55305900 55305900 single base substitution C G downstream_gene_variant LIRI-JP 14 55307180 55307180 single base substitution C G downstream_gene_variant LIRI-JP 14 55307315 55307315 single base substitution G C downstream_gene_variant LIRI-JP 14 55307537 55307537 single base substitution T C downstream_gene_variant LIRI-JP 14 55307554 55307554 single base substitution A G downstream_gene_variant LIRI-JP 14 55308712 55308712 single base substitution A C downstream_gene_variant LIRI-JP 14 55310093 55310093 single base substitution T A 3_prime_UTR_variant LIRI-JP 14 55310093 55310093 single base substitution T A exon_variant LIRI-JP 14 55310093 55310093 single base substitution T A intron_variant LIRI-JP 14 55310957 55310957 single base substitution T C intron_variant LIRI-JP 14 55315010 55315010 single base substitution A T intron_variant LIRI-JP 14 55316051 55316051 single base substitution C A intron_variant LIRI-JP 14 55317351 55317351 single base substitution C A intron_variant LIRI-JP 14 55317352 55317352 single base substitution C A intron_variant LIRI-JP 14 55319745 55319745 single base substitution G C intron_variant LIRI-JP 14 55320865 55320865 single base substitution G C intron_variant LIRI-JP 14 55323372 55323372 single base substitution T A intron_variant LIRI-JP 14 55324001 55324001 single base substitution C T intron_variant LIRI-JP 14 55326062 55326062 single base substitution C A intron_variant LIRI-JP 14 55326420 55326420 single base substitution A C exon_variant LIRI-JP 14 55326420 55326420 single base substitution A C missense_variant L163R 488T>G LIRI-JP 14 55326483 55326483 single base substitution T C intron_variant LIRI-JP 14 55328244 55328244 single base substitution C A intron_variant LIRI-JP 14 55328642 55328642 single base substitution T C intron_variant LIRI-JP 14 55332680 55332680 single base substitution C A intron_variant LIRI-JP 14 55333677 55333677 single base substitution T G intron_variant LIRI-JP 14 55340639 55340639 single base substitution A G intron_variant LIRI-JP 14 55341649 55341649 single base substitution C G intron_variant LIRI-JP 14 55344368 55344368 single base substitution T C intron_variant LIRI-JP 14 55347642 55347642 single base substitution A T intron_variant LIRI-JP 14 55348944 55348944 single base substitution C T intron_variant LIRI-JP 14 55352694 55352694 single base substitution T G intron_variant LIRI-JP 14 55356571 55356571 single base substitution A G intron_variant LIRI-JP 14 55357673 55357673 single base substitution C T intron_variant LIRI-JP 14 55359968 55359968 single base substitution A T intron_variant LIRI-JP 14 55360887 55360887 single base substitution T C intron_variant LIRI-JP 14 55362937 55362937 single base substitution G A intron_variant LIRI-JP 14 55363151 55363151 single base substitution C T intron_variant LIRI-JP 14 55367936 55367936 single base substitution T C intron_variant LIRI-JP 14 55368134 55368134 single base substitution G C intron_variant LIRI-JP 14 55370983 55370983 single base substitution G A upstream_gene_variant LIRI-JP 14 55371163 55371163 single base substitution T C upstream_gene_variant LIRI-JP 14 55374376 55374376 single base substitution C A upstream_gene_variant LUSC-CN 14 55351884 55351884 single base substitution T G intron_variant LUSC-KR 14 55305384 55305384 single base substitution C G downstream_gene_variant LUSC-KR 14 55310136 55310136 single base substitution C A 3_prime_UTR_variant LUSC-KR 14 55310136 55310136 single base substitution C A exon_variant LUSC-KR 14 55310136 55310136 single base substitution C A intron_variant LUSC-KR 14 55310492 55310492 single base substitution G A 3_prime_UTR_variant LUSC-KR 14 55310492 55310492 single base substitution G A exon_variant LUSC-KR 14 55310492 55310492 single base substitution G A intron_variant LUSC-KR 14 55310492 55310492 single base substitution G A splice_region_variant LUSC-KR 14 55312341 55312341 single base substitution G C intron_variant LUSC-KR 14 55314070 55314070 single base substitution G A intron_variant LUSC-KR 14 55316814 55316814 single base substitution C T intron_variant LUSC-KR 14 55324555 55324555 single base substitution C T intron_variant LUSC-KR 14 55330217 55330217 single base substitution C A intron_variant LUSC-KR 14 55331942 55331942 single base substitution G A intron_variant LUSC-KR 14 55337484 55337484 single base substitution G C intron_variant LUSC-KR 14 55338213 55338213 single base substitution G T intron_variant LUSC-KR 14 55338892 55338892 single base substitution G A intron_variant LUSC-KR 14 55341534 55341534 single base substitution A T intron_variant LUSC-KR 14 55343255 55343255 single base substitution T C intron_variant LUSC-KR 14 55344316 55344316 single base substitution A C intron_variant LUSC-KR 14 55348029 55348029 single base substitution A C intron_variant LUSC-KR 14 55361171 55361171 single base substitution C T intron_variant LUSC-KR 14 55369580 55369580 single base substitution C T upstream_gene_variant LUSC-US 14 55312518 55312518 single base substitution C A exon_variant LUSC-US 14 55312518 55312518 single base substitution C A intron_variant LUSC-US 14 55312518 55312518 single base substitution C A synonymous_variant R198R 594G>T LUSC-US 14 55312519 55312519 single base substitution C A exon_variant LUSC-US 14 55312519 55312519 single base substitution C A intron_variant LUSC-US 14 55312519 55312519 single base substitution C A missense_variant R198L 593G>T LUSC-US 14 55369083 55369083 single base substitution G A exon_variant LUSC-US 14 55369083 55369083 single base substitution G A missense_variant S100L 299C>T MALY-DE 14 55307843 55307845 deletion of <=200bp CTT - downstream_gene_variant MALY-DE 14 55310091 55310091 single base substitution A T 3_prime_UTR_variant MALY-DE 14 55310091 55310091 single base substitution A T exon_variant MALY-DE 14 55310091 55310091 single base substitution A T intron_variant MALY-DE 14 55311206 55311206 single base substitution T G intron_variant MALY-DE 14 55314385 55314386 deletion of <=200bp TA - intron_variant MALY-DE 14 55320910 55320910 single base substitution A G intron_variant MALY-DE 14 55328505 55328505 single base substitution G C intron_variant MALY-DE 14 55330264 55330264 single base substitution A G intron_variant MALY-DE 14 55331670 55331670 single base substitution T G intron_variant MALY-DE 14 55348692 55348692 single base substitution A C intron_variant MALY-DE 14 55348809 55348809 single base substitution A C intron_variant MALY-DE 14 55351517 55351517 single base substitution C A intron_variant MALY-DE 14 55355035 55355035 single base substitution G A intron_variant MALY-DE 14 55356810 55356810 single base substitution A G intron_variant MALY-DE 14 55363515 55363515 single base substitution G A intron_variant MALY-DE 14 55367089 55367089 single base substitution G A intron_variant MALY-DE 14 55368092 55368092 single base substitution A T intron_variant MALY-DE 14 55369319 55369319 single base substitution C T exon_variant MALY-DE 14 55369319 55369319 single base substitution C T synonymous_variant G21G 63G>A MALY-DE 14 55369319 55369319 single base substitution C T upstream_gene_variant MELA-AU 14 55303868 55303868 single base substitution G A downstream_gene_variant MELA-AU 14 55303893 55303893 single base substitution G A downstream_gene_variant MELA-AU 14 55304237 55304237 single base substitution C T downstream_gene_variant MELA-AU 14 55304626 55304626 single base substitution G A downstream_gene_variant MELA-AU 14 55304647 55304647 single base substitution G A downstream_gene_variant MELA-AU 14 55305223 55305223 single base substitution A G downstream_gene_variant MELA-AU 14 55305423 55305423 single base substitution T G downstream_gene_variant MELA-AU 14 55305736 55305736 single base substitution G A downstream_gene_variant MELA-AU 14 55305889 55305889 single base substitution A G downstream_gene_variant MELA-AU 14 55306145 55306145 single base substitution G A downstream_gene_variant MELA-AU 14 55306259 55306259 single base substitution A G downstream_gene_variant MELA-AU 14 55306754 55306754 single base substitution G A downstream_gene_variant MELA-AU 14 55307028 55307028 single base substitution A C downstream_gene_variant MELA-AU 14 55307140 55307140 single base substitution G T downstream_gene_variant MELA-AU 14 55307171 55307171 single base substitution G A downstream_gene_variant MELA-AU 14 55307205 55307205 single base substitution G A downstream_gene_variant MELA-AU 14 55307249 55307249 single base substitution C T downstream_gene_variant MELA-AU 14 55307364 55307364 single base substitution G A downstream_gene_variant MELA-AU 14 55307912 55307912 single base substitution G A downstream_gene_variant MELA-AU 14 55308150 55308150 single base substitution G A downstream_gene_variant MELA-AU 14 55308296 55308296 single base substitution C A downstream_gene_variant MELA-AU 14 55308542 55308542 single base substitution C T downstream_gene_variant MELA-AU 14 55308630 55308630 single base substitution G A downstream_gene_variant MELA-AU 14 55309051 55309051 single base substitution G A 3_prime_UTR_variant MELA-AU 14 55309051 55309051 single base substitution G A downstream_gene_variant MELA-AU 14 55309051 55309051 single base substitution G A exon_variant MELA-AU 14 55309274 55309274 single base substitution G A 3_prime_UTR_variant MELA-AU 14 55309274 55309274 single base substitution G A downstream_gene_variant MELA-AU 14 55309274 55309274 single base substitution G A exon_variant MELA-AU 14 55309471 55309471 single base substitution G A 3_prime_UTR_variant MELA-AU 14 55309471 55309471 single base substitution G A downstream_gene_variant MELA-AU 14 55309471 55309471 single base substitution G A exon_variant MELA-AU 14 55309586 55309586 single base substitution G A 3_prime_UTR_variant MELA-AU 14 55309586 55309586 single base substitution G A downstream_gene_variant MELA-AU 14 55309586 55309586 single base substitution G A exon_variant MELA-AU 14 55309765 55309765 single base substitution C T 3_prime_UTR_variant MELA-AU 14 55309765 55309765 single base substitution C T exon_variant MELA-AU 14 55309765 55309765 single base substitution C T missense_variant E212K 634G>A MELA-AU 14 55309869 55309869 single base substitution C T 3_prime_UTR_variant MELA-AU 14 55309869 55309869 single base substitution C T exon_variant MELA-AU 14 55309869 55309869 single base substitution C T intron_variant MELA-AU 14 55310319 55310319 single base substitution G A 3_prime_UTR_variant MELA-AU 14 55310319 55310319 single base substitution G A exon_variant MELA-AU 14 55310319 55310319 single base substitution G A intron_variant MELA-AU 14 55310363 55310364 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 14 55310363 55310364 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 14 55310363 55310364 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 55310786 55310786 single base substitution G A exon_variant MELA-AU 14 55310786 55310786 single base substitution G A intron_variant MELA-AU 14 55310786 55310786 single base substitution G A synonymous_variant F234F 702C>T MELA-AU 14 55311415 55311415 single base substitution C A intron_variant MELA-AU 14 55311536 55311536 single base substitution C T intron_variant MELA-AU 14 55311911 55311911 single base substitution G A intron_variant MELA-AU 14 55312025 55312025 single base substitution A G intron_variant MELA-AU 14 55312818 55312818 single base substitution G A intron_variant MELA-AU 14 55312944 55312944 single base substitution G A intron_variant MELA-AU 14 55313278 55313278 single base substitution C A intron_variant MELA-AU 14 55313480 55313480 single base substitution G A intron_variant MELA-AU 14 55314273 55314273 single base substitution C T intron_variant MELA-AU 14 55315299 55315299 single base substitution G A intron_variant MELA-AU 14 55315326 55315326 single base substitution G A intron_variant MELA-AU 14 55315344 55315345 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 14 55315536 55315536 single base substitution G A intron_variant MELA-AU 14 55316040 55316040 single base substitution A C intron_variant MELA-AU 14 55316091 55316091 single base substitution G A intron_variant MELA-AU 14 55316127 55316127 single base substitution G A intron_variant MELA-AU 14 55316302 55316302 single base substitution G A intron_variant MELA-AU 14 55316802 55316802 single base substitution C T intron_variant MELA-AU 14 55316814 55316814 single base substitution C T intron_variant MELA-AU 14 55317165 55317165 single base substitution G A intron_variant MELA-AU 14 55317385 55317385 single base substitution C T intron_variant MELA-AU 14 55317786 55317786 single base substitution G A intron_variant MELA-AU 14 55318024 55318024 single base substitution G A intron_variant MELA-AU 14 55318288 55318288 single base substitution A G intron_variant MELA-AU 14 55318334 55318334 single base substitution G A intron_variant MELA-AU 14 55318682 55318682 single base substitution A T intron_variant MELA-AU 14 55319203 55319203 single base substitution G A intron_variant MELA-AU 14 55319237 55319237 single base substitution C T intron_variant MELA-AU 14 55319340 55319340 single base substitution G A intron_variant MELA-AU 14 55320083 55320083 single base substitution C T intron_variant MELA-AU 14 55320228 55320228 single base substitution C T intron_variant MELA-AU 14 55320891 55320891 single base substitution G A intron_variant MELA-AU 14 55321197 55321197 single base substitution G A intron_variant MELA-AU 14 55321903 55321903 single base substitution G A intron_variant MELA-AU 14 55322131 55322131 single base substitution G A intron_variant MELA-AU 14 55322425 55322425 single base substitution G A intron_variant MELA-AU 14 55322669 55322669 single base substitution G A intron_variant MELA-AU 14 55322922 55322922 single base substitution C T intron_variant MELA-AU 14 55323831 55323831 single base substitution G A intron_variant MELA-AU 14 55323882 55323882 single base substitution T C intron_variant MELA-AU 14 55323922 55323922 single base substitution C T intron_variant MELA-AU 14 55324041 55324041 single base substitution C T intron_variant MELA-AU 14 55325028 55325028 single base substitution G A intron_variant MELA-AU 14 55325096 55325096 single base substitution C T intron_variant MELA-AU 14 55325127 55325127 single base substitution C T intron_variant MELA-AU 14 55325215 55325215 single base substitution G A intron_variant MELA-AU 14 55325589 55325589 single base substitution C T intron_variant MELA-AU 14 55325896 55325896 single base substitution G A intron_variant MELA-AU 14 55325907 55325907 single base substitution G A intron_variant MELA-AU 14 55325987 55325987 single base substitution C G intron_variant MELA-AU 14 55326274 55326274 single base substitution T C intron_variant MELA-AU 14 55327353 55327353 single base substitution G A intron_variant MELA-AU 14 55328015 55328015 single base substitution A C intron_variant MELA-AU 14 55328383 55328383 single base substitution G A intron_variant MELA-AU 14 55329564 55329564 single base substitution A C intron_variant MELA-AU 14 55329780 55329780 single base substitution C T intron_variant MELA-AU 14 55329833 55329833 single base substitution G A intron_variant MELA-AU 14 55330055 55330055 single base substitution G A intron_variant MELA-AU 14 55330127 55330127 single base substitution G A intron_variant MELA-AU 14 55330467 55330467 single base substitution G A intron_variant MELA-AU 14 55330484 55330484 single base substitution G A intron_variant MELA-AU 14 55330494 55330494 single base substitution G A intron_variant MELA-AU 14 55330783 55330783 single base substitution T C intron_variant MELA-AU 14 55330936 55330936 single base substitution C T intron_variant MELA-AU 14 55331378 55331378 single base substitution G A intron_variant MELA-AU 14 55331800 55331800 single base substitution C T intron_variant MELA-AU 14 55332531 55332531 single base substitution A T intron_variant MELA-AU 14 55332968 55332969 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 55333139 55333139 single base substitution G A intron_variant MELA-AU 14 55333847 55333847 single base substitution G A intron_variant MELA-AU 14 55333900 55333900 single base substitution T C intron_variant MELA-AU 14 55333933 55333933 single base substitution G A intron_variant MELA-AU 14 55334004 55334004 single base substitution G A intron_variant MELA-AU 14 55334053 55334053 single base substitution C T intron_variant MELA-AU 14 55334620 55334620 single base substitution G A intron_variant MELA-AU 14 55335606 55335607 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 55335768 55335768 single base substitution C T intron_variant MELA-AU 14 55336426 55336426 single base substitution G A intron_variant MELA-AU 14 55336801 55336801 single base substitution T C intron_variant MELA-AU 14 55337282 55337282 single base substitution G A intron_variant MELA-AU 14 55337430 55337430 single base substitution G A intron_variant MELA-AU 14 55337438 55337438 single base substitution G A intron_variant MELA-AU 14 55337448 55337448 single base substitution C T intron_variant MELA-AU 14 55337755 55337755 single base substitution G A intron_variant MELA-AU 14 55337871 55337871 single base substitution C T intron_variant MELA-AU 14 55337881 55337881 single base substitution G A intron_variant MELA-AU 14 55338006 55338006 single base substitution C T intron_variant MELA-AU 14 55338174 55338174 single base substitution G A intron_variant MELA-AU 14 55338498 55338498 single base substitution G A intron_variant MELA-AU 14 55339897 55339897 single base substitution G A intron_variant MELA-AU 14 55339999 55339999 single base substitution G T intron_variant MELA-AU 14 55340638 55340638 single base substitution G A intron_variant MELA-AU 14 55340690 55340690 single base substitution G A intron_variant MELA-AU 14 55342229 55342229 single base substitution G A intron_variant MELA-AU 14 55342825 55342825 single base substitution A G intron_variant MELA-AU 14 55343035 55343035 single base substitution G A intron_variant MELA-AU 14 55343093 55343093 single base substitution G A intron_variant MELA-AU 14 55343586 55343587 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 55343844 55343844 single base substitution C G intron_variant MELA-AU 14 55344016 55344016 single base substitution G A intron_variant MELA-AU 14 55344589 55344589 single base substitution C T intron_variant MELA-AU 14 55344657 55344657 single base substitution A G intron_variant MELA-AU 14 55344669 55344669 single base substitution A T intron_variant MELA-AU 14 55344856 55344856 single base substitution G A intron_variant MELA-AU 14 55344874 55344874 single base substitution G A intron_variant MELA-AU 14 55345813 55345813 single base substitution G A intron_variant MELA-AU 14 55346235 55346235 single base substitution G A intron_variant MELA-AU 14 55346478 55346478 single base substitution G A intron_variant MELA-AU 14 55346611 55346611 single base substitution G A intron_variant MELA-AU 14 55346880 55346880 single base substitution G A intron_variant MELA-AU 14 55347326 55347326 single base substitution A G intron_variant MELA-AU 14 55347358 55347358 single base substitution A G intron_variant MELA-AU 14 55347361 55347361 single base substitution C T intron_variant MELA-AU 14 55348567 55348567 single base substitution G A intron_variant MELA-AU 14 55348968 55348968 single base substitution C T intron_variant MELA-AU 14 55349334 55349334 single base substitution G A intron_variant MELA-AU 14 55349611 55349611 single base substitution C T intron_variant MELA-AU 14 55349754 55349754 single base substitution G A intron_variant MELA-AU 14 55349792 55349792 single base substitution G A intron_variant MELA-AU 14 55350185 55350185 single base substitution C T intron_variant MELA-AU 14 55350215 55350215 single base substitution G A intron_variant MELA-AU 14 55350298 55350298 single base substitution G A intron_variant MELA-AU 14 55350370 55350370 single base substitution C T intron_variant MELA-AU 14 55350528 55350528 single base substitution G A intron_variant MELA-AU 14 55350741 55350741 single base substitution C T intron_variant MELA-AU 14 55350782 55350783 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 55350802 55350802 single base substitution C T intron_variant MELA-AU 14 55351020 55351020 single base substitution G A intron_variant MELA-AU 14 55351049 55351049 single base substitution G A intron_variant MELA-AU 14 55351208 55351208 single base substitution C T intron_variant MELA-AU 14 55351476 55351476 single base substitution G A intron_variant MELA-AU 14 55351723 55351723 single base substitution C T intron_variant MELA-AU 14 55352038 55352038 single base substitution C T intron_variant MELA-AU 14 55352126 55352126 single base substitution G A intron_variant MELA-AU 14 55352266 55352266 single base substitution C T intron_variant MELA-AU 14 55352310 55352310 single base substitution G A intron_variant MELA-AU 14 55353185 55353185 single base substitution C T intron_variant MELA-AU 14 55353423 55353423 single base substitution G A intron_variant MELA-AU 14 55353536 55353536 single base substitution G A intron_variant MELA-AU 14 55353546 55353546 single base substitution C T intron_variant MELA-AU 14 55353639 55353639 single base substitution G A intron_variant MELA-AU 14 55353793 55353793 single base substitution G A intron_variant MELA-AU 14 55353928 55353928 single base substitution G C intron_variant MELA-AU 14 55354188 55354188 single base substitution C G intron_variant MELA-AU 14 55354214 55354214 single base substitution G A intron_variant MELA-AU 14 55354277 55354277 single base substitution G A intron_variant MELA-AU 14 55354375 55354375 single base substitution G A intron_variant MELA-AU 14 55354779 55354779 single base substitution G A intron_variant MELA-AU 14 55354947 55354947 single base substitution G A intron_variant MELA-AU 14 55354968 55354968 single base substitution G A intron_variant MELA-AU 14 55355353 55355354 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 55355568 55355568 single base substitution G A intron_variant MELA-AU 14 55355777 55355777 single base substitution G A intron_variant MELA-AU 14 55356085 55356085 single base substitution A G intron_variant MELA-AU 14 55356105 55356105 single base substitution C T intron_variant MELA-AU 14 55356138 55356138 single base substitution G A intron_variant MELA-AU 14 55356288 55356288 single base substitution C T intron_variant MELA-AU 14 55356481 55356481 single base substitution G A intron_variant MELA-AU 14 55356670 55356670 single base substitution G A intron_variant MELA-AU 14 55357982 55357982 single base substitution A G intron_variant MELA-AU 14 55358044 55358044 single base substitution G A intron_variant MELA-AU 14 55358106 55358106 single base substitution G A intron_variant MELA-AU 14 55358159 55358159 single base substitution C T intron_variant MELA-AU 14 55358208 55358208 single base substitution A G intron_variant MELA-AU 14 55358251 55358251 single base substitution C T intron_variant MELA-AU 14 55359074 55359074 single base substitution G A intron_variant MELA-AU 14 55359122 55359122 single base substitution G A intron_variant MELA-AU 14 55359135 55359135 single base substitution G A intron_variant MELA-AU 14 55359450 55359450 single base substitution G A intron_variant MELA-AU 14 55359880 55359880 single base substitution G A intron_variant MELA-AU 14 55361136 55361136 single base substitution G T intron_variant MELA-AU 14 55361540 55361540 single base substitution T C intron_variant MELA-AU 14 55361665 55361665 single base substitution A T intron_variant MELA-AU 14 55361864 55361864 single base substitution A T intron_variant MELA-AU 14 55362596 55362596 single base substitution A G intron_variant MELA-AU 14 55363074 55363074 single base substitution C T intron_variant MELA-AU 14 55363966 55363967 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 14 55364275 55364275 single base substitution G A intron_variant MELA-AU 14 55364654 55364654 single base substitution G A intron_variant MELA-AU 14 55364790 55364790 single base substitution G A intron_variant MELA-AU 14 55366038 55366038 single base substitution G A intron_variant MELA-AU 14 55366952 55366952 single base substitution G A intron_variant MELA-AU 14 55367022 55367022 single base substitution G A intron_variant MELA-AU 14 55367090 55367090 single base substitution G A intron_variant MELA-AU 14 55367119 55367119 single base substitution G A intron_variant MELA-AU 14 55367158 55367158 single base substitution G A intron_variant MELA-AU 14 55370628 55370628 single base substitution G A upstream_gene_variant MELA-AU 14 55370988 55370988 single base substitution C T upstream_gene_variant MELA-AU 14 55371065 55371065 single base substitution G T upstream_gene_variant MELA-AU 14 55371077 55371077 single base substitution G A upstream_gene_variant MELA-AU 14 55371580 55371580 single base substitution G A upstream_gene_variant MELA-AU 14 55372637 55372637 single base substitution G A upstream_gene_variant MELA-AU 14 55372772 55372772 single base substitution A G upstream_gene_variant MELA-AU 14 55372825 55372825 single base substitution C T upstream_gene_variant MELA-AU 14 55373249 55373249 single base substitution C T upstream_gene_variant MELA-AU 14 55373299 55373299 single base substitution C T upstream_gene_variant MELA-AU 14 55373406 55373406 single base substitution G A upstream_gene_variant MELA-AU 14 55374161 55374161 single base substitution C T upstream_gene_variant ORCA-IN 14 55325147 55325147 single base substitution G A intron_variant ORCA-IN 14 55367563 55367563 single base substitution T A intron_variant ORCA-IN 14 55367596 55367596 single base substitution C T intron_variant OV-AU 14 55312316 55312316 single base substitution G C intron_variant OV-AU 14 55322872 55322872 single base substitution C A intron_variant OV-AU 14 55323253 55323253 single base substitution C A intron_variant OV-AU 14 55327504 55327504 single base substitution G A intron_variant OV-AU 14 55341660 55341660 single base substitution T A intron_variant OV-AU 14 55342755 55342755 single base substitution C A intron_variant OV-AU 14 55349022 55349022 single base substitution T C intron_variant OV-AU 14 55356162 55356162 single base substitution G C intron_variant OV-AU 14 55360752 55360752 single base substitution C T intron_variant OV-AU 14 55363190 55363190 single base substitution T A intron_variant OV-AU 14 55363191 55363191 single base substitution C A intron_variant OV-AU 14 55365312 55365312 single base substitution T C intron_variant OV-AU 14 55366731 55366731 single base substitution T A intron_variant OV-AU 14 55370308 55370308 single base substitution A G upstream_gene_variant OV-AU 14 55371530 55371530 single base substitution A G upstream_gene_variant OV-AU 14 55374184 55374184 single base substitution T A upstream_gene_variant PACA-AU 14 55306646 55306661 deletion of <=200bp GGAAAAGTGGATAGGT - downstream_gene_variant PACA-AU 14 55307291 55307291 single base substitution C T downstream_gene_variant PACA-AU 14 55314385 55314386 deletion of <=200bp TA - intron_variant PACA-AU 14 55316002 55316002 single base substitution G A intron_variant PACA-AU 14 55322202 55322202 single base substitution C T intron_variant PACA-AU 14 55336488 55336488 single base substitution G A intron_variant PACA-AU 14 55342765 55342765 single base substitution C T intron_variant PACA-AU 14 55352629 55352629 single base substitution C A intron_variant PACA-AU 14 55354782 55354782 single base substitution A C intron_variant PACA-AU 14 55365064 55365064 single base substitution A T intron_variant PACA-AU 14 55365597 55365597 single base substitution C T intron_variant PACA-AU 14 55367534 55367534 single base substitution G T intron_variant PACA-AU 14 55368084 55368084 single base substitution A T intron_variant PACA-AU 14 55368085 55368085 single base substitution T A intron_variant PACA-AU 14 55373919 55373919 single base substitution A T upstream_gene_variant PACA-AU 14 55374214 55374214 single base substitution G A upstream_gene_variant PACA-CA 14 55306099 55306099 single base substitution A G downstream_gene_variant PACA-CA 14 55315209 55315209 single base substitution G A intron_variant PACA-CA 14 55317131 55317131 single base substitution A G intron_variant PACA-CA 14 55318961 55318961 single base substitution G A intron_variant PACA-CA 14 55321796 55321796 single base substitution C T intron_variant PACA-CA 14 55323771 55323771 single base substitution C A intron_variant PACA-CA 14 55328931 55328931 single base substitution T A intron_variant PACA-CA 14 55336297 55336297 single base substitution C G intron_variant PACA-CA 14 55342514 55342514 single base substitution G A intron_variant PACA-CA 14 55347908 55347908 insertion of <=200bp - A intron_variant PACA-CA 14 55350345 55350345 single base substitution C T intron_variant PACA-CA 14 55351183 55351183 deletion of <=200bp T - intron_variant PACA-CA 14 55355477 55355477 single base substitution G A intron_variant PACA-CA 14 55356786 55356786 single base substitution G C intron_variant PACA-CA 14 55360536 55360536 single base substitution G A intron_variant PACA-CA 14 55362184 55362184 single base substitution A G intron_variant PACA-CA 14 55363203 55363203 single base substitution A G intron_variant PACA-CA 14 55363359 55363359 single base substitution G A intron_variant PACA-CA 14 55365640 55365640 single base substitution C T intron_variant PAEN-AU 14 55331968 55331968 single base substitution A T intron_variant PAEN-IT 14 55310174 55310174 single base substitution C T 3_prime_UTR_variant PAEN-IT 14 55310174 55310174 single base substitution C T exon_variant PAEN-IT 14 55310174 55310174 single base substitution C T intron_variant PAEN-IT 14 55366912 55366912 single base substitution C T intron_variant PBCA-DE 14 55304194 55304194 single base substitution A T downstream_gene_variant PBCA-DE 14 55314385 55314385 insertion of <=200bp - TA intron_variant PBCA-DE 14 55321239 55321239 insertion of <=200bp - A intron_variant PBCA-DE 14 55322343 55322343 single base substitution C G intron_variant PBCA-DE 14 55352630 55352630 deletion of <=200bp A - intron_variant PBCA-DE 14 55363195 55363195 deletion of <=200bp A - intron_variant PBCA-DE 14 55363477 55363477 insertion of <=200bp - A intron_variant PBCA-DE 14 55365167 55365167 single base substitution G A intron_variant PRAD-CA 14 55311595 55311595 single base substitution G C intron_variant PRAD-CA 14 55350046 55350046 single base substitution C T intron_variant PRAD-CA 14 55350378 55350378 single base substitution C A intron_variant PRAD-CA 14 55365691 55365691 single base substitution C T intron_variant PRAD-UK 14 55315879 55315879 single base substitution A C intron_variant PRAD-UK 14 55322635 55322635 single base substitution G T intron_variant PRAD-UK 14 55323152 55323152 single base substitution C T intron_variant PRAD-UK 14 55335285 55335285 single base substitution T C intron_variant PRAD-UK 14 55352759 55352759 single base substitution G A intron_variant READ-US 14 55332143 55332143 single base substitution C T exon_variant READ-US 14 55332143 55332143 single base substitution C T missense_variant D119N 355G>A RECA-EU 14 55306369 55306369 single base substitution C T downstream_gene_variant RECA-EU 14 55333027 55333027 single base substitution A T intron_variant RECA-EU 14 55344048 55344048 single base substitution A G intron_variant RECA-EU 14 55344058 55344058 single base substitution C T intron_variant RECA-EU 14 55359443 55359443 single base substitution T A intron_variant RECA-EU 14 55367920 55367920 single base substitution A G intron_variant RECA-EU 14 55373067 55373067 single base substitution A T upstream_gene_variant RECA-EU 14 55374319 55374319 single base substitution C T upstream_gene_variant SKCA-BR 14 55304061 55304061 single base substitution G A downstream_gene_variant SKCA-BR 14 55304080 55304080 single base substitution G A downstream_gene_variant SKCA-BR 14 55304114 55304114 insertion of <=200bp - TAAA downstream_gene_variant SKCA-BR 14 55304169 55304169 single base substitution T C downstream_gene_variant SKCA-BR 14 55304962 55304969 deletion of <=200bp AAAAAAAG - downstream_gene_variant SKCA-BR 14 55304965 55304969 deletion of <=200bp AAAAG - downstream_gene_variant SKCA-BR 14 55308403 55308403 single base substitution G A downstream_gene_variant SKCA-BR 14 55309442 55309442 single base substitution G A 3_prime_UTR_variant SKCA-BR 14 55309442 55309442 single base substitution G A downstream_gene_variant SKCA-BR 14 55309442 55309442 single base substitution G A exon_variant SKCA-BR 14 55310276 55310276 single base substitution G A 3_prime_UTR_variant SKCA-BR 14 55310276 55310276 single base substitution G A exon_variant SKCA-BR 14 55310276 55310276 single base substitution G A intron_variant SKCA-BR 14 55314949 55314949 single base substitution G T intron_variant SKCA-BR 14 55317993 55317993 single base substitution G A intron_variant SKCA-BR 14 55325194 55325194 single base substitution G A intron_variant SKCA-BR 14 55326312 55326312 single base substitution G A intron_variant SKCA-BR 14 55328092 55328092 single base substitution G A intron_variant SKCA-BR 14 55328368 55328368 single base substitution G A intron_variant SKCA-BR 14 55329086 55329086 single base substitution G A intron_variant SKCA-BR 14 55329331 55329331 insertion of <=200bp - GT intron_variant SKCA-BR 14 55329331 55329332 deletion of <=200bp GT - intron_variant SKCA-BR 14 55329404 55329404 single base substitution G A intron_variant SKCA-BR 14 55334307 55334313 deletion of <=200bp CAAAAAA - intron_variant SKCA-BR 14 55336115 55336115 single base substitution A C intron_variant SKCA-BR 14 55336118 55336125 deletion of <=200bp AGAAACTG - intron_variant SKCA-BR 14 55337869 55337869 single base substitution T G intron_variant SKCA-BR 14 55339702 55339702 single base substitution A G intron_variant SKCA-BR 14 55341223 55341223 single base substitution G A intron_variant SKCA-BR 14 55341620 55341620 single base substitution A T intron_variant SKCA-BR 14 55342535 55342535 single base substitution G A intron_variant SKCA-BR 14 55343973 55343973 single base substitution T C intron_variant SKCA-BR 14 55345398 55345398 single base substitution C T intron_variant SKCA-BR 14 55347236 55347238 deletion of <=200bp CAT - intron_variant SKCA-BR 14 55348837 55348837 single base substitution C G intron_variant SKCA-BR 14 55349885 55349885 single base substitution T A intron_variant SKCA-BR 14 55350658 55350658 single base substitution G T intron_variant SKCA-BR 14 55354375 55354375 single base substitution G A intron_variant SKCA-BR 14 55357110 55357110 single base substitution G A intron_variant SKCA-BR 14 55357335 55357335 single base substitution G A intron_variant SKCA-BR 14 55359212 55359212 single base substitution G A intron_variant SKCA-BR 14 55359618 55359618 single base substitution G A intron_variant SKCA-BR 14 55361659 55361659 single base substitution G A intron_variant SKCA-BR 14 55362216 55362216 single base substitution G A intron_variant SKCA-BR 14 55362667 55362667 single base substitution G A intron_variant SKCA-BR 14 55366812 55366812 single base substitution A C intron_variant SKCA-BR 14 55367218 55367218 single base substitution C G intron_variant SKCA-BR 14 55369522 55369522 single base substitution C T 5_prime_UTR_variant SKCA-BR 14 55369522 55369522 single base substitution C T exon_variant SKCA-BR 14 55369522 55369522 single base substitution C T upstream_gene_variant SKCA-BR 14 55370516 55370516 single base substitution C T upstream_gene_variant SKCA-BR 14 55370681 55370681 single base substitution C A upstream_gene_variant SKCA-BR 14 55370820 55370820 single base substitution C T upstream_gene_variant SKCA-BR 14 55370821 55370821 single base substitution C T upstream_gene_variant SKCA-BR 14 55372118 55372118 single base substitution G A upstream_gene_variant SKCM-US 14 55310756 55310756 single base substitution G A exon_variant SKCM-US 14 55310756 55310756 single base substitution G A intron_variant SKCM-US 14 55310756 55310756 single base substitution G A synonymous_variant F244F 732C>T STAD-US 14 55369080 55369080 single base substitution G A exon_variant STAD-US 14 55369080 55369080 single base substitution G A missense_variant A101V 302C>T UCEC-US 14 55332114 55332114 single base substitution C A exon_variant UCEC-US 14 55332114 55332114 single base substitution C A missense_variant E128D 384G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-37-4141-01 COSM698345 c.593G>T p.R198L Substitution - Missense 14:54845801-54845801 - QC2-40-T2 COSM5656085 c.196C>T p.L66L Substitution - coding silent 14:54902468-54902468 - SC_9099 COSM5547037 c.464_465delGT p.G155fs*4 Deletion - Frameshift 14:54859725-54859726 - HCC105 COSM1607752 c.355G>A p.D119N Substitution - Missense 14:54865425-54865425 - TCGA-E2-A15R-01 COSM433146 c.166G>A p.E56K Substitution - Missense 14:54902498-54902498 - TCGA-DK-A3WW-01 COSM3793736 c.739C>T p.L247F Substitution - Missense 14:54844031-54844031 - KM12 COSM1677996 c.695G>A p.G232D Substitution - Missense 14:54844075-54844075 - B112-Tumor COSM1748893 c.608G>A p.G203E Substitution - Missense 14:54845786-54845786 - TCGA-A8-A09X-01 COSM433145 c.741C>T p.L247L Substitution - coding silent 14:54844029-54844029 - RK052_C01 COSM1629343 c.488T>G p.L163R Substitution - Missense 14:54859702-54859702 - PT08_1 COSM3793736 c.739C>T p.L247F Substitution - Missense 14:54844031-54844031 - TCGA-BG-A0M3-01 COSM956317 c.506C>A p.A169E Substitution - Missense 14:54859684-54859684 - T3094 COSM4686616 c.626+1G>A p.? Unknown 14:54845767-54845767 - sysucc-1370T COSM5470250 c.582G>A p.T194T Substitution - coding silent 14:54845812-54845812 - PT08_2 COSM3793736 c.739C>T p.L247F Substitution - Missense 14:54844031-54844031 - TCGA-F5-6814-01 COSM1607752 c.355G>A p.D119N Substitution - Missense 14:54865425-54865425 - B112 COSM1748893 c.608G>A p.G203E Substitution - Missense 14:54845786-54845786 - 702TS COSM673827 c.367G>C p.D123H Substitution - Missense 14:54865413-54865413 - TCGA-D3-A3C7-06 COSM3496431 c.732C>T p.F244F Substitution - coding silent 14:54844038-54844038 - TCGA-36-2544-01 COSM1323480 c.500A>T p.K167I Substitution - Missense 14:54859690-54859690 - TCGA-D1-A103-01 COSM956318 c.384G>T p.E128D Substitution - Missense 14:54865396-54865396 - TCGA-37-4141-01 COSM698347 c.594G>T p.R198R Substitution - coding silent 14:54845800-54845800 - B63-Tumor COSM1748894 c.566T>A p.I189N Substitution - Missense 14:54845828-54845828 - TCGA-39-5031-01 COSM698344 c.299C>T p.S100L Substitution - Missense 14:54902365-54902365 - cSCCP5 COSM138050 c.487C>T p.L163F Substitution - Missense 14:54859703-54859703 - T2384 COSM4686617 c.257C>T p.P86L Substitution - Missense 14:54902407-54902407 - S02065 COSM5672601 c.647G>T p.R216L Substitution - Missense 14:54844123-54844123 - TCGA-HU-A4GT-01 COSM4051338 c.302C>T p.A101V Substitution - Missense 14:54902362-54902362 - HCC105T COSM1607752 c.355G>A p.D119N Substitution - Missense 14:54865425-54865425 - MAVER-1 COSM1740103 c.571G>A p.V191I Substitution - Missense 14:54845823-54845823 - B63 COSM1748894 c.566T>A p.I189N Substitution - Missense 14:54845828-54845828 - TCGA-IR-A3LH-01 COSM4832447 c.522C>A p.I174I Substitution - coding silent 14:54847118-54847118 - TCGA-DZ-6134-01 COSM3987682 c.723G>A p.R241R Substitution - coding silent 14:54844047-54844047 - 12T COSM108631 c.416C>T p.S139F Substitution - Missense 14:54865364-54865364 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.86724 14q22.1-q22.2 600225

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.750+29T>C 14 55310709 CM A T Missense p.L231M c.691T>A 14 55310797 LUAD C A 3-UTRSNV . c.750+348G>T 14 55310390 CM C A Missense p.R198L c.593G>T 14 55312519 LUSC C A Missense p.R235L c.704G>T 14 55310784 LUAD C A Synonymous p.R198R c.594G>T 14 55312518 LUSC C G Missense p.E183Q c.547G>C 14 55312565 LUAD C T Missense p.E56K c.166G>A 14 55369216 BRCA G A 3-UTRSNV . c.750+192C>T 14 55310546 CM G A 3-UTRSNV . c.750+203C>T 14 55310535 CM G A 3-UTRSNV . c.750+84C>T 14 55310654 CM G A 3-UTRSNV . c.750+954C>T 14 55309784 CM G A 3-UTRSNV . c.750+985C>T 14 55309753 CM G A Missense p.S100L c.299C>T 14 55369083 LUSC G A Missense p.S139F c.416C>T 14 55332082 CM G A Synonymous p.F244F c.732C>T 14 55310756 CM G A Synonymous p.L247L c.741C>T 14 55310747 BRCA T G IntronicSNV . c.343+16345A>C 14 55352694 HC