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 5 138994349 138994349 + Missense_Mutation SNP A A G TCGA-BT-A42F-01A-11D-A23U-08 TCGA-BT-A42F-10A-01D-A23U-08 g.chr5:138994349A>G c.188A>G c.(187-189)aAa>aGa p.K63R BRCA 5 138980017 138980017 + Missense_Mutation SNP G G A TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 g.chr5:138980017G>A c.85G>A c.(85-87)Gat>Aat p.D29N BRCA 5 138994175 138994175 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 g.chr5:138994175C>G c.93C>G c.(91-93)ttC>ttG p.F31L BRCA 5 138994342 138994342 + Missense_Mutation SNP C C T TCGA-AO-A03O-01A-11W-A019-09 TCGA-AO-A03O-10A-01W-A021-09 g.chr5:138994342C>T c.181C>T c.(181-183)Ccc>Tcc p.P61S COAD 5 138994491 138994491 + Missense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr5:138994491G>A c.244G>A c.(244-246)Ggc>Agc p.G82S COADREAD 5 138994491 138994491 + Missense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr5:138994491G>A c.244G>A c.(244-246)Ggc>Agc p.G82S ESCA 5 138979986 138979986 + Silent SNP A A T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr5:138979986A>T c.54A>T c.(52-54)ccA>ccT p.P18P ESCA 5 139003036 139003036 + Missense_Mutation SNP G G C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 g.chr5:139003036G>C c.388G>C c.(388-390)Gat>Cat p.D130H ESCA 5 139006354 139006354 + Missense_Mutation SNP G G T TCGA-IG-A4QT-01A-21D-A27G-09 TCGA-IG-A4QT-10A-02D-A27G-09 g.chr5:139006354G>T c.412G>T c.(412-414)Gct>Tct p.A138S HNSC 5 138979957 138979957 + Splice_Site SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr5:138979957G>C c.25G>C c.(25-27)Gaa>Caa p.E9Q HNSC 5 138994175 138994175 + Silent SNP C C T TCGA-CV-A468-01A-11D-A25Y-08 TCGA-CV-A468-10A-01D-A25Y-08 g.chr5:138994175C>T c.93C>T c.(91-93)ttC>ttT p.F31F KIPAN 5 139003010 139003010 + Missense_Mutation SNP C C T TCGA-B4-5836-01A-11D-1669-08 TCGA-B4-5836-10A-01D-1669-08 g.chr5:139003010C>T c.362C>T c.(361-363)cCt>cTt p.P121L KIRC 5 139003010 139003010 + Missense_Mutation SNP C C T TCGA-B4-5836-01A-11D-1669-08 TCGA-B4-5836-10A-01D-1669-08 g.chr5:139003010C>T c.362C>T c.(361-363)cCt>cTt p.P121L LIHC 5 138994470 138994471 + Missense_Mutation DNP CA CA AT TCGA-DD-AADO-01A-11D-A40R-10 TCGA-DD-AADO-10A-01D-A40U-10 g.chr5:138994470_138994471CA>AT c.223_224CA>AT c.(223-225)CAt>ATt p.H75I LUAD 5 138994325 138994325 + Missense_Mutation SNP A A G TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 g.chr5:138994325A>G c.164A>G c.(163-165)cAt>cGt p.H55R LUAD 5 138994493 138994493 + Silent SNP C C A TCGA-55-8510-01A-11D-2393-08 TCGA-55-8510-10A-01D-2393-08 g.chr5:138994493C>A c.246C>A c.(244-246)ggC>ggA p.G82G LUSC 5 138994186 138994186 + Missense_Mutation SNP C C T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr5:138994186C>T c.104C>T c.(103-105)gCt>gTt p.A35V LUSC 5 138994297 138994297 + Missense_Mutation SNP C C G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr5:138994297C>G c.136C>G c.(136-138)Cag>Gag p.Q46E

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 5 138901268 138901268 single base substitution T C upstream_gene_variant BRCA-EU 5 138901474 138901474 single base substitution G A upstream_gene_variant BRCA-EU 5 138903868 138903868 single base substitution G C upstream_gene_variant BRCA-EU 5 138904891 138904891 single base substitution C T upstream_gene_variant BRCA-EU 5 138906647 138906647 deletion of <=200bp A - intron_variant BRCA-EU 5 138906947 138906947 deletion of <=200bp A - intron_variant BRCA-EU 5 138907897 138907897 deletion of <=200bp T - intron_variant BRCA-EU 5 138910060 138910060 single base substitution T C intron_variant BRCA-EU 5 138912305 138912305 single base substitution C G intron_variant BRCA-EU 5 138912772 138912772 deletion of <=200bp T - intron_variant BRCA-EU 5 138914691 138914691 single base substitution C T intron_variant BRCA-EU 5 138916097 138916097 single base substitution C T intron_variant BRCA-EU 5 138919187 138919187 deletion of <=200bp T - intron_variant BRCA-EU 5 138919564 138919564 single base substitution G A intron_variant BRCA-EU 5 138922760 138922760 single base substitution G A intron_variant BRCA-EU 5 138924377 138924377 insertion of <=200bp - T intron_variant BRCA-EU 5 138924696 138924696 single base substitution C G intron_variant BRCA-EU 5 138926392 138926430 deletion of <=200bp CTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTC - intron_variant BRCA-EU 5 138926616 138926616 single base substitution C A intron_variant BRCA-EU 5 138926912 138926912 single base substitution A G intron_variant BRCA-EU 5 138928646 138928646 single base substitution G A intron_variant BRCA-EU 5 138930484 138930484 single base substitution G A intron_variant BRCA-EU 5 138931288 138931288 single base substitution G C intron_variant BRCA-EU 5 138931994 138931994 single base substitution C T intron_variant BRCA-EU 5 138932054 138932054 single base substitution C G intron_variant BRCA-EU 5 138932390 138932390 single base substitution C A intron_variant BRCA-EU 5 138932505 138932505 single base substitution G A intron_variant BRCA-EU 5 138932924 138932924 single base substitution T C intron_variant BRCA-EU 5 138935915 138935915 single base substitution C T intron_variant BRCA-EU 5 138935915 138935915 single base substitution C T upstream_gene_variant BRCA-EU 5 138935993 138935993 single base substitution C G intron_variant BRCA-EU 5 138935993 138935993 single base substitution C G upstream_gene_variant BRCA-EU 5 138936334 138936334 single base substitution G A intron_variant BRCA-EU 5 138936334 138936334 single base substitution G A upstream_gene_variant BRCA-EU 5 138937585 138937585 single base substitution T G intron_variant BRCA-EU 5 138937585 138937585 single base substitution T G upstream_gene_variant BRCA-EU 5 138937998 138937998 single base substitution G A intron_variant BRCA-EU 5 138937998 138937998 single base substitution G A upstream_gene_variant BRCA-EU 5 138938734 138938734 single base substitution G C intron_variant BRCA-EU 5 138938734 138938734 single base substitution G C upstream_gene_variant BRCA-EU 5 138938739 138938739 single base substitution C T intron_variant BRCA-EU 5 138938739 138938739 single base substitution C T upstream_gene_variant BRCA-EU 5 138940313 138940313 single base substitution C T intron_variant BRCA-EU 5 138940313 138940313 single base substitution C T upstream_gene_variant BRCA-EU 5 138940718 138940718 single base substitution C G intron_variant BRCA-EU 5 138940718 138940718 single base substitution C G upstream_gene_variant BRCA-EU 5 138940735 138940735 single base substitution G C intron_variant BRCA-EU 5 138940735 138940735 single base substitution G C upstream_gene_variant BRCA-EU 5 138941773 138941773 single base substitution G A 5_prime_UTR_variant BRCA-EU 5 138941773 138941773 single base substitution G A intron_variant BRCA-EU 5 138942139 138942139 single base substitution G A intron_variant BRCA-EU 5 138942585 138942585 single base substitution A G intron_variant BRCA-EU 5 138943363 138943363 deletion of <=200bp A - intron_variant BRCA-EU 5 138944564 138944564 single base substitution T C intron_variant BRCA-EU 5 138947611 138947611 single base substitution C T intron_variant BRCA-EU 5 138947775 138947775 deletion of <=200bp A - intron_variant BRCA-EU 5 138948451 138948451 single base substitution G A intron_variant BRCA-EU 5 138948562 138948562 deletion of <=200bp A - intron_variant BRCA-EU 5 138950333 138950333 single base substitution T C intron_variant BRCA-EU 5 138950348 138950348 single base substitution G A intron_variant BRCA-EU 5 138950760 138950760 single base substitution G T intron_variant BRCA-EU 5 138951098 138951098 single base substitution C T intron_variant BRCA-EU 5 138951617 138951617 single base substitution A G intron_variant BRCA-EU 5 138955323 138955323 deletion of <=200bp G - intron_variant BRCA-EU 5 138955871 138955871 single base substitution C G intron_variant BRCA-EU 5 138956912 138956912 single base substitution A C intron_variant BRCA-EU 5 138958384 138958384 single base substitution A G intron_variant BRCA-EU 5 138960720 138960720 single base substitution G C intron_variant BRCA-EU 5 138960838 138960838 single base substitution C T intron_variant BRCA-EU 5 138961579 138961579 insertion of <=200bp - T intron_variant BRCA-EU 5 138961579 138961580 deletion of <=200bp TT - intron_variant BRCA-EU 5 138962756 138962756 single base substitution C T intron_variant BRCA-EU 5 138962896 138962896 deletion of <=200bp T - intron_variant BRCA-EU 5 138962911 138962911 single base substitution C A intron_variant BRCA-EU 5 138963059 138963059 single base substitution G A intron_variant BRCA-EU 5 138963204 138963204 single base substitution G A intron_variant BRCA-EU 5 138963332 138963332 single base substitution G T intron_variant BRCA-EU 5 138963538 138963538 single base substitution G A intron_variant BRCA-EU 5 138963636 138963636 single base substitution C T intron_variant BRCA-EU 5 138964669 138964669 single base substitution G C intron_variant BRCA-EU 5 138969379 138969379 insertion of <=200bp - T intron_variant BRCA-EU 5 138970728 138970728 single base substitution C T intron_variant BRCA-EU 5 138971165 138971165 single base substitution G A intron_variant BRCA-EU 5 138971486 138971486 single base substitution C T intron_variant BRCA-EU 5 138971655 138971655 single base substitution C T intron_variant BRCA-EU 5 138971838 138971838 single base substitution C G intron_variant BRCA-EU 5 138973212 138973212 deletion of <=200bp T - intron_variant BRCA-EU 5 138974445 138974445 single base substitution C T intron_variant BRCA-EU 5 138975447 138975447 single base substitution T G intron_variant BRCA-EU 5 138975447 138975447 single base substitution T G upstream_gene_variant BRCA-EU 5 138977237 138977237 single base substitution A G intron_variant BRCA-EU 5 138977237 138977237 single base substitution A G upstream_gene_variant BRCA-EU 5 138978320 138978320 insertion of <=200bp - T intron_variant BRCA-EU 5 138978320 138978320 insertion of <=200bp - T upstream_gene_variant BRCA-EU 5 138979181 138979181 single base substitution C A intron_variant BRCA-EU 5 138979181 138979181 single base substitution C A upstream_gene_variant BRCA-EU 5 138979782 138979782 single base substitution G A intron_variant BRCA-EU 5 138979782 138979782 single base substitution G A upstream_gene_variant BRCA-EU 5 138981266 138981266 single base substitution C A intron_variant BRCA-EU 5 138981996 138981996 single base substitution T A intron_variant BRCA-EU 5 138984713 138984713 single base substitution G A intron_variant BRCA-EU 5 138986991 138986991 single base substitution G A intron_variant BRCA-EU 5 138987243 138987243 single base substitution G C intron_variant BRCA-EU 5 138988025 138988025 deletion of <=200bp A - intron_variant BRCA-EU 5 138989190 138989190 single base substitution A T intron_variant BRCA-EU 5 138989583 138989583 single base substitution C A intron_variant BRCA-EU 5 138991053 138991053 single base substitution G C intron_variant BRCA-EU 5 138992396 138992396 single base substitution T A intron_variant BRCA-EU 5 138993152 138993152 single base substitution C T intron_variant BRCA-EU 5 138994022 138994022 single base substitution G C intron_variant BRCA-EU 5 138995250 138995250 single base substitution C G downstream_gene_variant BRCA-EU 5 138995250 138995250 single base substitution C G intron_variant BRCA-EU 5 138995984 138995988 deletion of <=200bp TGTAC - downstream_gene_variant BRCA-EU 5 138995984 138995988 deletion of <=200bp TGTAC - intron_variant BRCA-EU 5 138996638 138996638 single base substitution C T downstream_gene_variant BRCA-EU 5 138996638 138996638 single base substitution C T intron_variant BRCA-EU 5 138997929 138997929 single base substitution A G downstream_gene_variant BRCA-EU 5 138997929 138997929 single base substitution A G intron_variant BRCA-EU 5 138998881 138998881 single base substitution T G downstream_gene_variant BRCA-EU 5 138998881 138998881 single base substitution T G intron_variant BRCA-EU 5 139002063 139002063 single base substitution C T intron_variant BRCA-EU 5 139002180 139002180 single base substitution A G intron_variant BRCA-EU 5 139002833 139002833 single base substitution A G intron_variant BRCA-EU 5 139004192 139004192 single base substitution G C downstream_gene_variant BRCA-EU 5 139004192 139004192 single base substitution G C intron_variant BRCA-EU 5 139005584 139005584 single base substitution C G downstream_gene_variant BRCA-EU 5 139005584 139005584 single base substitution C G intron_variant BRCA-EU 5 139005650 139005650 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 139005650 139005650 deletion of <=200bp T - intron_variant BRCA-EU 5 139005657 139005657 single base substitution T C downstream_gene_variant BRCA-EU 5 139005657 139005657 single base substitution T C intron_variant BRCA-EU 5 139007918 139007918 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 139007918 139007918 single base substitution G A downstream_gene_variant BRCA-EU 5 139008448 139008448 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 139008786 139008786 single base substitution G A downstream_gene_variant BRCA-EU 5 139009818 139009818 single base substitution G C downstream_gene_variant BRCA-EU 5 139009986 139009986 single base substitution G C downstream_gene_variant BRCA-EU 5 139011240 139011240 single base substitution T G downstream_gene_variant BRCA-FR 5 138912305 138912305 single base substitution C G intron_variant BRCA-FR 5 138919564 138919564 single base substitution G A intron_variant BRCA-FR 5 138940718 138940718 single base substitution C G intron_variant BRCA-FR 5 138940718 138940718 single base substitution C G upstream_gene_variant BRCA-FR 5 138960289 138960289 single base substitution C G intron_variant BRCA-FR 5 138960720 138960720 single base substitution G C intron_variant BRCA-FR 5 138961297 138961297 single base substitution A T intron_variant BRCA-FR 5 138966889 138966889 single base substitution C G intron_variant BRCA-FR 5 138974445 138974445 single base substitution C T intron_variant BRCA-FR 5 138993152 138993152 single base substitution C T intron_variant BRCA-FR 5 139005584 139005584 single base substitution C G downstream_gene_variant BRCA-FR 5 139005584 139005584 single base substitution C G intron_variant BRCA-UK 5 138929744 138929744 single base substitution C T intron_variant BRCA-UK 5 138948451 138948451 single base substitution G A intron_variant BRCA-UK 5 138963332 138963332 single base substitution G T intron_variant BRCA-UK 5 138981996 138981996 single base substitution T A intron_variant BRCA-UK 5 138992396 138992396 single base substitution T A intron_variant BRCA-UK 5 139001252 139001252 single base substitution G C intron_variant BRCA-US 5 138980017 138980017 single base substitution G A 5_prime_UTR_variant BRCA-US 5 138980017 138980017 single base substitution G A exon_variant BRCA-US 5 138980017 138980017 single base substitution G A missense_variant D29N 85G>A BRCA-US 5 138994175 138994175 single base substitution C G exon_variant BRCA-US 5 138994175 138994175 single base substitution C G missense_variant F2L 6C>G BRCA-US 5 138994175 138994175 single base substitution C G missense_variant F31L 93C>G BRCA-US 5 138994342 138994342 single base substitution C T downstream_gene_variant BRCA-US 5 138994342 138994342 single base substitution C T exon_variant BRCA-US 5 138994342 138994342 single base substitution C T missense_variant P32S 94C>T BRCA-US 5 138994342 138994342 single base substitution C T missense_variant P61S 181C>T CLLE-ES 5 138925912 138925912 single base substitution C G intron_variant CLLE-ES 5 138962257 138962257 single base substitution T C intron_variant CLLE-ES 5 138962267 138962267 single base substitution T C intron_variant CLLE-ES 5 139008728 139008728 single base substitution T G downstream_gene_variant COAD-US 5 138994491 138994491 single base substitution G A downstream_gene_variant COAD-US 5 138994491 138994491 single base substitution G A exon_variant COAD-US 5 138994491 138994491 single base substitution G A missense_variant G53S 157G>A COAD-US 5 138994491 138994491 single base substitution G A missense_variant G82S 244G>A COCA-CN 5 138914081 138914081 single base substitution T G intron_variant COCA-CN 5 138926406 138926406 single base substitution C T intron_variant COCA-CN 5 138927778 138927778 single base substitution A T intron_variant COCA-CN 5 138937498 138937498 single base substitution T A intron_variant COCA-CN 5 138937498 138937498 single base substitution T A upstream_gene_variant COCA-CN 5 138941984 138941984 single base substitution A G 5_prime_UTR_variant COCA-CN 5 138941984 138941984 single base substitution A G intron_variant COCA-CN 5 138948160 138948160 single base substitution G A intron_variant COCA-CN 5 138964531 138964531 single base substitution G T intron_variant COCA-CN 5 138994496 138994496 single base substitution C T downstream_gene_variant COCA-CN 5 138994496 138994496 single base substitution C T exon_variant COCA-CN 5 138994496 138994496 single base substitution C T synonymous_variant S54S 162C>T COCA-CN 5 138994496 138994496 single base substitution C T synonymous_variant S83S 249C>T COCA-CN 5 138994647 138994647 single base substitution G T downstream_gene_variant COCA-CN 5 138994647 138994647 single base substitution G T intron_variant COCA-CN 5 139002936 139002936 single base substitution G T intron_variant COCA-CN 5 139006201 139006201 single base substitution G A downstream_gene_variant COCA-CN 5 139006201 139006201 single base substitution G A intron_variant EOPC-DE 5 138915000 138915000 single base substitution C G intron_variant ESAD-UK 5 138901422 138901422 single base substitution G A upstream_gene_variant ESAD-UK 5 138906456 138906456 single base substitution T G intron_variant ESAD-UK 5 138912353 138912353 single base substitution T A intron_variant ESAD-UK 5 138913788 138913788 single base substitution C T intron_variant ESAD-UK 5 138915043 138915043 single base substitution A C intron_variant ESAD-UK 5 138915926 138915926 single base substitution C T intron_variant ESAD-UK 5 138916237 138916237 single base substitution G A intron_variant ESAD-UK 5 138919246 138919246 single base substitution G A intron_variant ESAD-UK 5 138920586 138920586 single base substitution A G intron_variant ESAD-UK 5 138922627 138922627 single base substitution G A intron_variant ESAD-UK 5 138925075 138925075 single base substitution G T intron_variant ESAD-UK 5 138926460 138926460 single base substitution T C intron_variant ESAD-UK 5 138927303 138927303 single base substitution G A intron_variant ESAD-UK 5 138927946 138927946 single base substitution G A intron_variant ESAD-UK 5 138928251 138928251 single base substitution G A intron_variant ESAD-UK 5 138928496 138928496 single base substitution C T intron_variant ESAD-UK 5 138928770 138928770 single base substitution G A intron_variant ESAD-UK 5 138930123 138930123 single base substitution G T intron_variant ESAD-UK 5 138930183 138930183 single base substitution G A intron_variant ESAD-UK 5 138930982 138930982 single base substitution A G intron_variant ESAD-UK 5 138932592 138932592 single base substitution C A intron_variant ESAD-UK 5 138934303 138934303 single base substitution T C intron_variant ESAD-UK 5 138935144 138935144 single base substitution G T intron_variant ESAD-UK 5 138937498 138937498 single base substitution T A intron_variant ESAD-UK 5 138937498 138937498 single base substitution T A upstream_gene_variant ESAD-UK 5 138937939 138937939 single base substitution C T intron_variant ESAD-UK 5 138937939 138937939 single base substitution C T upstream_gene_variant ESAD-UK 5 138939475 138939475 single base substitution T G intron_variant ESAD-UK 5 138939475 138939475 single base substitution T G upstream_gene_variant ESAD-UK 5 138939827 138939827 single base substitution G A intron_variant ESAD-UK 5 138939827 138939827 single base substitution G A upstream_gene_variant ESAD-UK 5 138942373 138942373 deletion of <=200bp T - intron_variant ESAD-UK 5 138943055 138943055 single base substitution T C intron_variant ESAD-UK 5 138945213 138945213 single base substitution C T intron_variant ESAD-UK 5 138948371 138948371 single base substitution G A intron_variant ESAD-UK 5 138949826 138949826 single base substitution A T intron_variant ESAD-UK 5 138953946 138953946 single base substitution C G intron_variant ESAD-UK 5 138958215 138958215 single base substitution T A intron_variant ESAD-UK 5 138958817 138958817 single base substitution C T intron_variant ESAD-UK 5 138959929 138959929 single base substitution C G intron_variant ESAD-UK 5 138960620 138960620 single base substitution G A intron_variant ESAD-UK 5 138960805 138960805 single base substitution G A intron_variant ESAD-UK 5 138962114 138962114 single base substitution T C intron_variant ESAD-UK 5 138963059 138963059 single base substitution G T intron_variant ESAD-UK 5 138963641 138963641 single base substitution A C intron_variant ESAD-UK 5 138972504 138972504 deletion of <=200bp A - intron_variant ESAD-UK 5 138973212 138973212 deletion of <=200bp T - intron_variant ESAD-UK 5 138977174 138977174 single base substitution G A intron_variant ESAD-UK 5 138977174 138977174 single base substitution G A upstream_gene_variant ESAD-UK 5 138979711 138979711 single base substitution C G intron_variant ESAD-UK 5 138979711 138979711 single base substitution C G upstream_gene_variant ESAD-UK 5 138983895 138983895 single base substitution C T intron_variant ESAD-UK 5 138986168 138986168 single base substitution G C intron_variant ESAD-UK 5 138990133 138990133 single base substitution A T intron_variant ESAD-UK 5 138990182 138990182 single base substitution G A intron_variant ESAD-UK 5 139000386 139000386 single base substitution G A intron_variant ESAD-UK 5 139000432 139000432 single base substitution G T intron_variant ESAD-UK 5 139000433 139000433 single base substitution C T intron_variant ESAD-UK 5 139001868 139001868 single base substitution C T intron_variant ESAD-UK 5 139002798 139002798 single base substitution G A intron_variant ESAD-UK 5 139004197 139004197 single base substitution C T downstream_gene_variant ESAD-UK 5 139004197 139004197 single base substitution C T intron_variant ESAD-UK 5 139005078 139005078 single base substitution G T downstream_gene_variant ESAD-UK 5 139005078 139005078 single base substitution G T intron_variant ESAD-UK 5 139006389 139006389 single base substitution A G 3_prime_UTR_variant ESAD-UK 5 139006389 139006389 single base substitution A G downstream_gene_variant ESAD-UK 5 139006862 139006862 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 139006862 139006862 single base substitution C T downstream_gene_variant ESAD-UK 5 139006862 139006862 single base substitution C T intron_variant ESAD-UK 5 139008175 139008175 single base substitution G C downstream_gene_variant ESAD-UK 5 139008606 139008606 single base substitution T G downstream_gene_variant ESAD-UK 5 139008926 139008926 single base substitution C T downstream_gene_variant ESAD-UK 5 139009520 139009520 single base substitution T C downstream_gene_variant ESAD-UK 5 139010000 139010000 single base substitution C G downstream_gene_variant ESAD-UK 5 139010053 139010053 deletion of <=200bp T - downstream_gene_variant ESAD-UK 5 139012458 139012458 single base substitution C A downstream_gene_variant LAML-KR 5 138915822 138915822 single base substitution T A intron_variant LAML-KR 5 138919269 138919269 single base substitution C T intron_variant LAML-KR 5 138947137 138947137 single base substitution G T intron_variant LAML-KR 5 138964812 138964812 single base substitution G T intron_variant LAML-KR 5 138973373 138973373 single base substitution A T intron_variant LICA-FR 5 138917537 138917553 deletion of <=200bp AGACTCCGTCTCAAAAA - intron_variant LICA-FR 5 138926362 138926362 single base substitution T A intron_variant LICA-FR 5 138931905 138931905 single base substitution G A intron_variant LICA-FR 5 138943790 138943790 single base substitution A G intron_variant LICA-FR 5 138983726 138983726 deletion of <=200bp T - intron_variant LICA-FR 5 138992708 138992708 single base substitution T G intron_variant LICA-FR 5 138994465 138994465 deletion of <=200bp T - downstream_gene_variant LICA-FR 5 138994465 138994465 deletion of <=200bp T - exon_variant LICA-FR 5 138994465 138994465 deletion of <=200bp T - frameshift_variant I44 LICA-FR 5 138994465 138994465 deletion of <=200bp T - frameshift_variant I73 LICA-FR 5 139006475 139006475 single base substitution A G 3_prime_UTR_variant LICA-FR 5 139006475 139006475 single base substitution A G downstream_gene_variant LINC-JP 5 138909165 138909165 single base substitution C A intron_variant LINC-JP 5 138912861 138912861 deletion of <=200bp A - intron_variant LINC-JP 5 138917564 138917564 single base substitution A G intron_variant LINC-JP 5 138933467 138933467 single base substitution C T intron_variant LINC-JP 5 138941982 138941982 deletion of <=200bp A - 5_prime_UTR_variant LINC-JP 5 138941982 138941982 deletion of <=200bp A - intron_variant LINC-JP 5 138944595 138944595 single base substitution C A intron_variant LINC-JP 5 138954339 138954339 single base substitution G A intron_variant LINC-JP 5 138957859 138957859 single base substitution A G intron_variant LINC-JP 5 138964134 138964134 single base substitution G T intron_variant LINC-JP 5 138970028 138970028 single base substitution T A intron_variant LINC-JP 5 138976044 138976044 single base substitution A G intron_variant LINC-JP 5 138976044 138976044 single base substitution A G upstream_gene_variant LINC-JP 5 138982039 138982039 single base substitution A G intron_variant LIRI-JP 5 138901120 138901120 single base substitution G A upstream_gene_variant LIRI-JP 5 138907243 138907243 single base substitution T C intron_variant LIRI-JP 5 138907279 138907279 single base substitution G T intron_variant LIRI-JP 5 138907977 138907977 single base substitution C A intron_variant LIRI-JP 5 138909854 138909854 single base substitution A T intron_variant LIRI-JP 5 138914806 138914806 single base substitution T G intron_variant LIRI-JP 5 138918216 138918216 single base substitution G A intron_variant LIRI-JP 5 138923102 138923102 single base substitution T C intron_variant LIRI-JP 5 138925699 138925699 single base substitution G T intron_variant LIRI-JP 5 138925721 138925721 single base substitution T C intron_variant LIRI-JP 5 138927461 138927461 single base substitution G A intron_variant LIRI-JP 5 138928548 138928548 single base substitution C G intron_variant LIRI-JP 5 138928995 138928995 single base substitution C T intron_variant LIRI-JP 5 138929088 138929088 single base substitution G A intron_variant LIRI-JP 5 138931156 138931156 single base substitution T C intron_variant LIRI-JP 5 138935991 138935991 single base substitution C A intron_variant LIRI-JP 5 138935991 138935991 single base substitution C A upstream_gene_variant LIRI-JP 5 138937973 138937973 single base substitution C T intron_variant LIRI-JP 5 138937973 138937973 single base substitution C T upstream_gene_variant LIRI-JP 5 138938119 138938119 single base substitution C T intron_variant LIRI-JP 5 138938119 138938119 single base substitution C T upstream_gene_variant LIRI-JP 5 138939468 138939468 single base substitution C T intron_variant LIRI-JP 5 138939468 138939468 single base substitution C T upstream_gene_variant LIRI-JP 5 138942550 138942550 single base substitution A G intron_variant LIRI-JP 5 138943550 138943550 single base substitution A G intron_variant LIRI-JP 5 138944075 138944075 single base substitution G A intron_variant LIRI-JP 5 138944581 138944581 single base substitution A G intron_variant LIRI-JP 5 138946868 138946868 single base substitution A T intron_variant LIRI-JP 5 138951025 138951025 single base substitution C G intron_variant LIRI-JP 5 138951582 138951582 single base substitution A G intron_variant LIRI-JP 5 138951741 138951741 single base substitution G A intron_variant LIRI-JP 5 138954047 138954047 single base substitution T G intron_variant LIRI-JP 5 138954264 138954264 single base substitution A G intron_variant LIRI-JP 5 138963900 138963900 single base substitution G T intron_variant LIRI-JP 5 138965445 138965445 single base substitution C T intron_variant LIRI-JP 5 138970976 138970976 single base substitution A G intron_variant LIRI-JP 5 138972658 138972658 single base substitution G A intron_variant LIRI-JP 5 138972990 138972990 single base substitution T G intron_variant LIRI-JP 5 138973033 138973033 single base substitution A G intron_variant LIRI-JP 5 138974891 138974891 single base substitution A G intron_variant LIRI-JP 5 138977561 138977561 single base substitution A T intron_variant LIRI-JP 5 138977561 138977561 single base substitution A T upstream_gene_variant LIRI-JP 5 138980019 138980019 single base substitution T C splice_region_variant LIRI-JP 5 138983604 138983604 single base substitution A G intron_variant LIRI-JP 5 138986174 138986174 single base substitution A G intron_variant LIRI-JP 5 138987483 138987483 single base substitution A G intron_variant LIRI-JP 5 138987899 138987899 single base substitution T C intron_variant LIRI-JP 5 138991298 138991298 single base substitution T C intron_variant LIRI-JP 5 138991312 138991312 single base substitution A G intron_variant LIRI-JP 5 138992298 138992298 single base substitution A C intron_variant LIRI-JP 5 138994103 138994103 single base substitution T A intron_variant LIRI-JP 5 138996544 138996544 single base substitution A G downstream_gene_variant LIRI-JP 5 138996544 138996544 single base substitution A G intron_variant LIRI-JP 5 138996823 138996823 single base substitution G A downstream_gene_variant LIRI-JP 5 138996823 138996823 single base substitution G A intron_variant LIRI-JP 5 138997583 138997583 single base substitution A G downstream_gene_variant LIRI-JP 5 138997583 138997583 single base substitution A G intron_variant LIRI-JP 5 139000546 139000546 single base substitution A G intron_variant LIRI-JP 5 139000620 139000620 single base substitution A T intron_variant LIRI-JP 5 139003201 139003203 deletion of <=200bp TAT - downstream_gene_variant LIRI-JP 5 139003201 139003203 deletion of <=200bp TAT - exon_variant LIRI-JP 5 139003201 139003203 deletion of <=200bp TAT - intron_variant LIRI-JP 5 139003786 139003786 single base substitution A C downstream_gene_variant LIRI-JP 5 139003786 139003786 single base substitution A C intron_variant LIRI-JP 5 139004629 139004629 single base substitution C G downstream_gene_variant LIRI-JP 5 139004629 139004629 single base substitution C G intron_variant LIRI-JP 5 139007349 139007349 single base substitution T G 3_prime_UTR_variant LIRI-JP 5 139007349 139007349 single base substitution T G downstream_gene_variant LIRI-JP 5 139011710 139011710 single base substitution G A downstream_gene_variant LIRI-JP 5 139012808 139012808 single base substitution T A downstream_gene_variant LIRI-JP 5 139012907 139012907 single base substitution T A downstream_gene_variant LUSC-KR 5 138904165 138904165 single base substitution A C upstream_gene_variant LUSC-KR 5 138911848 138911848 single base substitution C G intron_variant LUSC-KR 5 138912853 138912853 single base substitution C G intron_variant LUSC-KR 5 138913720 138913720 single base substitution C T intron_variant LUSC-KR 5 138913753 138913753 single base substitution C G intron_variant LUSC-KR 5 138914665 138914665 single base substitution C T intron_variant LUSC-KR 5 138923503 138923503 single base substitution C T intron_variant LUSC-KR 5 138924724 138924724 single base substitution G T intron_variant LUSC-KR 5 138927774 138927774 single base substitution A T intron_variant LUSC-KR 5 138927778 138927778 single base substitution A T intron_variant LUSC-KR 5 138946214 138946214 single base substitution C G intron_variant LUSC-KR 5 138948909 138948909 single base substitution C T intron_variant LUSC-KR 5 138952773 138952773 single base substitution G T intron_variant LUSC-KR 5 138964006 138964006 single base substitution C G intron_variant LUSC-KR 5 138964531 138964531 single base substitution G T intron_variant LUSC-KR 5 138980798 138980798 single base substitution A C intron_variant LUSC-KR 5 138981494 138981494 single base substitution C A intron_variant LUSC-KR 5 138985337 138985337 single base substitution C G intron_variant LUSC-KR 5 138985495 138985495 single base substitution T A intron_variant LUSC-KR 5 138991899 138991899 single base substitution G C intron_variant LUSC-KR 5 138997657 138997657 single base substitution C G downstream_gene_variant LUSC-KR 5 138997657 138997657 single base substitution C G intron_variant LUSC-KR 5 138999106 138999106 single base substitution C A downstream_gene_variant LUSC-KR 5 138999106 138999106 single base substitution C A intron_variant LUSC-KR 5 138999898 138999898 single base substitution C T intron_variant LUSC-KR 5 139000067 139000067 single base substitution C G intron_variant LUSC-KR 5 139001288 139001288 single base substitution G A intron_variant LUSC-KR 5 139005025 139005025 single base substitution C T downstream_gene_variant LUSC-KR 5 139005025 139005025 single base substitution C T intron_variant LUSC-US 5 138994186 138994186 single base substitution C T exon_variant LUSC-US 5 138994186 138994186 single base substitution C T missense_variant A35V 104C>T LUSC-US 5 138994186 138994186 single base substitution C T missense_variant A6V 17C>T LUSC-US 5 138994297 138994297 single base substitution C G downstream_gene_variant LUSC-US 5 138994297 138994297 single base substitution C G exon_variant LUSC-US 5 138994297 138994297 single base substitution C G missense_variant Q17E 49C>G LUSC-US 5 138994297 138994297 single base substitution C G missense_variant Q46E 136C>G MALY-DE 5 138903014 138903014 single base substitution A G upstream_gene_variant MALY-DE 5 138906607 138906607 single base substitution G C intron_variant MALY-DE 5 138914891 138914891 single base substitution A G intron_variant MALY-DE 5 138915828 138915828 single base substitution G A intron_variant MALY-DE 5 138924193 138924194 deletion of <=200bp CA - intron_variant MALY-DE 5 138929256 138929256 single base substitution G A intron_variant MALY-DE 5 138932908 138932908 single base substitution A C intron_variant MALY-DE 5 138937030 138937030 single base substitution A G intron_variant MALY-DE 5 138937030 138937030 single base substitution A G upstream_gene_variant MALY-DE 5 138942380 138942380 single base substitution T C intron_variant MALY-DE 5 138942689 138942689 single base substitution G A intron_variant MALY-DE 5 138949301 138949301 single base substitution T A intron_variant MALY-DE 5 138959303 138959303 single base substitution A T intron_variant MALY-DE 5 138959607 138959607 single base substitution G A intron_variant MALY-DE 5 138965675 138965675 single base substitution A C intron_variant MALY-DE 5 138971195 138971195 single base substitution A C intron_variant MALY-DE 5 138971211 138971211 single base substitution A T intron_variant MALY-DE 5 138972123 138972123 single base substitution C T intron_variant MALY-DE 5 138973666 138973666 single base substitution T G intron_variant MALY-DE 5 138979245 138979245 single base substitution C T intron_variant MALY-DE 5 138979245 138979245 single base substitution C T upstream_gene_variant MALY-DE 5 138991361 138991361 single base substitution T G intron_variant MALY-DE 5 138991435 138991435 single base substitution T C intron_variant MALY-DE 5 138991551 138991551 single base substitution T C intron_variant MALY-DE 5 138991570 138991570 single base substitution T A intron_variant MALY-DE 5 138995734 138995734 single base substitution T C downstream_gene_variant MALY-DE 5 138995734 138995734 single base substitution T C intron_variant MALY-DE 5 138999420 138999420 single base substitution C T intron_variant MALY-DE 5 139000636 139000636 single base substitution C T intron_variant MALY-DE 5 139008183 139008183 single base substitution A T downstream_gene_variant MELA-AU 5 138901142 138901142 single base substitution A G upstream_gene_variant MELA-AU 5 138901492 138901492 single base substitution G A upstream_gene_variant MELA-AU 5 138901639 138901639 single base substitution G A upstream_gene_variant MELA-AU 5 138901655 138901655 single base substitution G A upstream_gene_variant MELA-AU 5 138901902 138901902 single base substitution A C upstream_gene_variant MELA-AU 5 138901969 138901969 single base substitution G A upstream_gene_variant MELA-AU 5 138901993 138901993 single base substitution G A upstream_gene_variant MELA-AU 5 138902032 138902032 single base substitution G A upstream_gene_variant MELA-AU 5 138902082 138902082 single base substitution G A upstream_gene_variant MELA-AU 5 138902221 138902221 single base substitution G A upstream_gene_variant MELA-AU 5 138902246 138902246 single base substitution T A upstream_gene_variant MELA-AU 5 138902377 138902377 single base substitution C A upstream_gene_variant MELA-AU 5 138902460 138902460 single base substitution C T upstream_gene_variant MELA-AU 5 138902556 138902556 single base substitution G A upstream_gene_variant MELA-AU 5 138902641 138902641 single base substitution G A upstream_gene_variant MELA-AU 5 138902668 138902668 single base substitution C T upstream_gene_variant MELA-AU 5 138902756 138902756 single base substitution G A upstream_gene_variant MELA-AU 5 138902928 138902928 single base substitution C T upstream_gene_variant MELA-AU 5 138902989 138902989 single base substitution G A upstream_gene_variant MELA-AU 5 138903045 138903045 single base substitution C T upstream_gene_variant MELA-AU 5 138903402 138903403 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 138903523 138903523 single base substitution G A upstream_gene_variant MELA-AU 5 138903557 138903557 single base substitution G A upstream_gene_variant MELA-AU 5 138903911 138903911 single base substitution C T upstream_gene_variant MELA-AU 5 138903926 138903926 single base substitution C T upstream_gene_variant MELA-AU 5 138904183 138904183 single base substitution C T upstream_gene_variant MELA-AU 5 138904334 138904334 single base substitution G A upstream_gene_variant MELA-AU 5 138904342 138904342 single base substitution A T upstream_gene_variant MELA-AU 5 138904895 138904895 single base substitution G A upstream_gene_variant MELA-AU 5 138905249 138905249 single base substitution C T upstream_gene_variant MELA-AU 5 138905266 138905267 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 138905299 138905299 single base substitution C T upstream_gene_variant MELA-AU 5 138905387 138905387 single base substitution C T upstream_gene_variant MELA-AU 5 138905528 138905528 single base substitution G A upstream_gene_variant MELA-AU 5 138905773 138905773 single base substitution G A upstream_gene_variant MELA-AU 5 138905880 138905881 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 138906157 138906157 single base substitution G A 5_prime_UTR_variant MELA-AU 5 138906188 138906188 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 5 138906501 138906501 single base substitution G A intron_variant MELA-AU 5 138906777 138906777 single base substitution C T intron_variant MELA-AU 5 138906984 138906984 single base substitution G A intron_variant MELA-AU 5 138907362 138907362 single base substitution A T intron_variant MELA-AU 5 138907513 138907513 single base substitution C T intron_variant MELA-AU 5 138908657 138908657 single base substitution C T intron_variant MELA-AU 5 138908739 138908739 single base substitution A G intron_variant MELA-AU 5 138908824 138908824 single base substitution C T intron_variant MELA-AU 5 138909364 138909364 single base substitution C T intron_variant MELA-AU 5 138909526 138909526 single base substitution G A intron_variant MELA-AU 5 138909660 138909660 single base substitution C T intron_variant MELA-AU 5 138909810 138909810 single base substitution G A intron_variant MELA-AU 5 138909878 138909878 single base substitution G A intron_variant MELA-AU 5 138909903 138909903 single base substitution C T intron_variant MELA-AU 5 138910087 138910087 single base substitution C T intron_variant MELA-AU 5 138910088 138910088 single base substitution G A intron_variant MELA-AU 5 138910112 138910112 single base substitution G A intron_variant MELA-AU 5 138910278 138910278 single base substitution C A intron_variant MELA-AU 5 138910373 138910373 single base substitution T G intron_variant MELA-AU 5 138910416 138910416 single base substitution C T intron_variant MELA-AU 5 138910527 138910527 single base substitution C T intron_variant MELA-AU 5 138910632 138910632 single base substitution C T intron_variant MELA-AU 5 138911046 138911046 single base substitution G A intron_variant MELA-AU 5 138911052 138911052 single base substitution C T intron_variant MELA-AU 5 138911057 138911057 single base substitution T C intron_variant MELA-AU 5 138911087 138911087 single base substitution C T intron_variant MELA-AU 5 138911098 138911098 single base substitution C T intron_variant MELA-AU 5 138911171 138911171 single base substitution C T intron_variant MELA-AU 5 138911583 138911583 single base substitution T A intron_variant MELA-AU 5 138911823 138911823 single base substitution G A intron_variant MELA-AU 5 138911988 138911989 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 5 138912027 138912027 single base substitution C T intron_variant MELA-AU 5 138912256 138912256 single base substitution G A intron_variant MELA-AU 5 138912669 138912669 single base substitution G A intron_variant MELA-AU 5 138912871 138912871 single base substitution C T intron_variant MELA-AU 5 138913876 138913877 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 138913899 138913899 single base substitution C T intron_variant MELA-AU 5 138913910 138913910 single base substitution G A intron_variant MELA-AU 5 138914100 138914100 single base substitution G A intron_variant MELA-AU 5 138914171 138914171 single base substitution A C intron_variant MELA-AU 5 138914569 138914569 single base substitution G A intron_variant MELA-AU 5 138914995 138914995 single base substitution C T intron_variant MELA-AU 5 138915028 138915028 single base substitution C T intron_variant MELA-AU 5 138915239 138915239 single base substitution G A intron_variant MELA-AU 5 138915381 138915381 single base substitution T A intron_variant MELA-AU 5 138915488 138915488 single base substitution T A intron_variant MELA-AU 5 138915602 138915602 single base substitution C T intron_variant MELA-AU 5 138915819 138915819 single base substitution G A intron_variant MELA-AU 5 138915882 138915882 single base substitution C T intron_variant MELA-AU 5 138915904 138915904 single base substitution G A intron_variant MELA-AU 5 138915912 138915912 single base substitution G A intron_variant MELA-AU 5 138916100 138916100 single base substitution G A intron_variant MELA-AU 5 138916140 138916140 single base substitution C T intron_variant MELA-AU 5 138916309 138916309 single base substitution A T intron_variant MELA-AU 5 138916722 138916722 single base substitution C T intron_variant MELA-AU 5 138916745 138916745 single base substitution G A intron_variant MELA-AU 5 138917324 138917324 single base substitution C T intron_variant MELA-AU 5 138917340 138917340 single base substitution G A intron_variant MELA-AU 5 138917503 138917503 single base substitution C T intron_variant MELA-AU 5 138917573 138917573 single base substitution C T intron_variant MELA-AU 5 138917950 138917950 single base substitution G A intron_variant MELA-AU 5 138918144 138918144 single base substitution C T intron_variant MELA-AU 5 138918222 138918222 single base substitution G A intron_variant MELA-AU 5 138918590 138918590 single base substitution G A intron_variant MELA-AU 5 138918673 138918673 single base substitution G A intron_variant MELA-AU 5 138918830 138918830 single base substitution G A intron_variant MELA-AU 5 138918866 138918866 single base substitution C T intron_variant MELA-AU 5 138918896 138918896 single base substitution C T intron_variant MELA-AU 5 138919050 138919050 single base substitution A T intron_variant MELA-AU 5 138919130 138919130 single base substitution G A intron_variant MELA-AU 5 138919190 138919190 single base substitution T A intron_variant MELA-AU 5 138919366 138919366 single base substitution C T intron_variant MELA-AU 5 138919403 138919403 single base substitution A G intron_variant MELA-AU 5 138919595 138919595 single base substitution C T intron_variant MELA-AU 5 138919599 138919599 single base substitution G A intron_variant MELA-AU 5 138919837 138919837 single base substitution G A intron_variant MELA-AU 5 138920365 138920365 single base substitution C T intron_variant MELA-AU 5 138920618 138920618 single base substitution C T intron_variant MELA-AU 5 138920931 138920931 single base substitution A T intron_variant MELA-AU 5 138921655 138921655 single base substitution C T intron_variant MELA-AU 5 138921828 138921828 single base substitution C T intron_variant MELA-AU 5 138921856 138921856 single base substitution G A intron_variant MELA-AU 5 138922990 138922990 single base substitution C T intron_variant MELA-AU 5 138923345 138923345 single base substitution C T intron_variant MELA-AU 5 138923442 138923442 single base substitution G T intron_variant MELA-AU 5 138923539 138923540 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 138923943 138923943 single base substitution G A intron_variant MELA-AU 5 138924134 138924134 single base substitution C T intron_variant MELA-AU 5 138924577 138924577 single base substitution G A intron_variant MELA-AU 5 138925496 138925496 single base substitution G A intron_variant MELA-AU 5 138925504 138925504 single base substitution G T intron_variant MELA-AU 5 138925629 138925629 single base substitution C T intron_variant MELA-AU 5 138925739 138925739 single base substitution C T intron_variant MELA-AU 5 138925789 138925789 single base substitution C T intron_variant MELA-AU 5 138925821 138925821 single base substitution G A intron_variant MELA-AU 5 138926291 138926291 single base substitution G A intron_variant MELA-AU 5 138926443 138926443 single base substitution C T intron_variant MELA-AU 5 138926447 138926447 single base substitution C T intron_variant MELA-AU 5 138926471 138926471 single base substitution C T intron_variant MELA-AU 5 138926830 138926830 single base substitution C T intron_variant MELA-AU 5 138927322 138927322 single base substitution C T intron_variant MELA-AU 5 138927362 138927362 single base substitution C T intron_variant MELA-AU 5 138927867 138927867 single base substitution C T intron_variant MELA-AU 5 138927869 138927869 single base substitution C A intron_variant MELA-AU 5 138928173 138928174 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 138928193 138928193 single base substitution C T intron_variant MELA-AU 5 138928239 138928239 single base substitution C T intron_variant MELA-AU 5 138928537 138928537 single base substitution G A intron_variant MELA-AU 5 138928649 138928649 single base substitution G A intron_variant MELA-AU 5 138928811 138928811 single base substitution C T intron_variant MELA-AU 5 138928866 138928866 single base substitution G A intron_variant MELA-AU 5 138928894 138928894 single base substitution G A intron_variant MELA-AU 5 138929174 138929174 single base substitution G A intron_variant MELA-AU 5 138929252 138929252 single base substitution G A intron_variant MELA-AU 5 138929283 138929283 single base substitution C T intron_variant MELA-AU 5 138929335 138929336 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 138930009 138930009 single base substitution G A intron_variant MELA-AU 5 138930242 138930242 single base substitution C T intron_variant MELA-AU 5 138930299 138930299 single base substitution G A intron_variant MELA-AU 5 138930537 138930537 single base substitution G A intron_variant MELA-AU 5 138930657 138930657 single base substitution G A intron_variant MELA-AU 5 138930838 138930838 single base substitution G A intron_variant MELA-AU 5 138931512 138931512 single base substitution G A intron_variant MELA-AU 5 138931834 138931834 single base substitution C T intron_variant MELA-AU 5 138931870 138931870 single base substitution C T intron_variant MELA-AU 5 138932317 138932317 single base substitution G A intron_variant MELA-AU 5 138932508 138932508 single base substitution C T intron_variant MELA-AU 5 138932536 138932537 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 138933073 138933073 single base substitution G A intron_variant MELA-AU 5 138933218 138933218 single base substitution G A intron_variant MELA-AU 5 138933257 138933258 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 138933269 138933269 single base substitution C T intron_variant MELA-AU 5 138933808 138933808 single base substitution G A intron_variant MELA-AU 5 138933870 138933870 single base substitution C T intron_variant MELA-AU 5 138933983 138933983 single base substitution C T intron_variant MELA-AU 5 138934058 138934058 single base substitution G A intron_variant MELA-AU 5 138934275 138934275 single base substitution G A intron_variant MELA-AU 5 138934461 138934461 single base substitution G A intron_variant MELA-AU 5 138934521 138934521 single base substitution G A intron_variant MELA-AU 5 138934700 138934700 single base substitution G A intron_variant MELA-AU 5 138934766 138934766 single base substitution G A intron_variant MELA-AU 5 138935067 138935067 single base substitution G A intron_variant MELA-AU 5 138935171 138935171 single base substitution G A intron_variant MELA-AU 5 138936500 138936500 single base substitution A G intron_variant MELA-AU 5 138936500 138936500 single base substitution A G upstream_gene_variant MELA-AU 5 138936530 138936530 single base substitution C T intron_variant MELA-AU 5 138936530 138936530 single base substitution C T upstream_gene_variant MELA-AU 5 138936828 138936828 single base substitution C T intron_variant MELA-AU 5 138936828 138936828 single base substitution C T upstream_gene_variant MELA-AU 5 138937093 138937093 single base substitution G A intron_variant MELA-AU 5 138937093 138937093 single base substitution G A upstream_gene_variant MELA-AU 5 138937300 138937300 single base substitution C T intron_variant MELA-AU 5 138937300 138937300 single base substitution C T upstream_gene_variant MELA-AU 5 138937510 138937510 single base substitution C T intron_variant MELA-AU 5 138937510 138937510 single base substitution C T upstream_gene_variant MELA-AU 5 138938007 138938007 single base substitution G A intron_variant MELA-AU 5 138938007 138938007 single base substitution G A upstream_gene_variant MELA-AU 5 138938071 138938071 single base substitution C T intron_variant MELA-AU 5 138938071 138938071 single base substitution C T upstream_gene_variant MELA-AU 5 138938611 138938611 single base substitution C T intron_variant MELA-AU 5 138938611 138938611 single base substitution C T upstream_gene_variant MELA-AU 5 138938837 138938838 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 138938837 138938838 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 138939295 138939295 single base substitution C T intron_variant MELA-AU 5 138939295 138939295 single base substitution C T upstream_gene_variant MELA-AU 5 138939488 138939488 single base substitution G A intron_variant MELA-AU 5 138939488 138939488 single base substitution G A upstream_gene_variant MELA-AU 5 138940704 138940704 single base substitution G A intron_variant MELA-AU 5 138940704 138940704 single base substitution G A upstream_gene_variant MELA-AU 5 138941795 138941796 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 5 138941795 138941796 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 138943981 138943981 single base substitution C T intron_variant MELA-AU 5 138944263 138944263 single base substitution C T intron_variant MELA-AU 5 138944670 138944670 single base substitution C T intron_variant MELA-AU 5 138944852 138944852 deletion of <=200bp A - intron_variant MELA-AU 5 138945134 138945134 single base substitution C T intron_variant MELA-AU 5 138947040 138947040 single base substitution G T intron_variant MELA-AU 5 138949938 138949938 single base substitution C T intron_variant MELA-AU 5 138950337 138950337 single base substitution C T intron_variant MELA-AU 5 138950985 138950985 single base substitution C T intron_variant MELA-AU 5 138951340 138951340 single base substitution T C intron_variant MELA-AU 5 138951387 138951387 single base substitution C T intron_variant MELA-AU 5 138952688 138952688 single base substitution C T intron_variant MELA-AU 5 138952841 138952841 single base substitution C T intron_variant MELA-AU 5 138952898 138952898 single base substitution G A intron_variant MELA-AU 5 138953159 138953159 single base substitution C T intron_variant MELA-AU 5 138953439 138953439 single base substitution C T intron_variant MELA-AU 5 138953697 138953697 single base substitution T C intron_variant MELA-AU 5 138953960 138953960 single base substitution C T intron_variant MELA-AU 5 138954075 138954075 single base substitution C T intron_variant MELA-AU 5 138954089 138954089 single base substitution G A intron_variant MELA-AU 5 138954151 138954151 single base substitution C T intron_variant MELA-AU 5 138954421 138954421 single base substitution C A intron_variant MELA-AU 5 138955674 138955674 single base substitution C T intron_variant MELA-AU 5 138955864 138955864 single base substitution C T intron_variant MELA-AU 5 138956313 138956313 single base substitution C T intron_variant MELA-AU 5 138958675 138958676 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 138959843 138959843 single base substitution T C intron_variant MELA-AU 5 138960619 138960619 single base substitution G A intron_variant MELA-AU 5 138961207 138961207 single base substitution C T intron_variant MELA-AU 5 138961288 138961288 single base substitution C T intron_variant MELA-AU 5 138961364 138961364 single base substitution C T intron_variant MELA-AU 5 138962222 138962222 single base substitution T G intron_variant MELA-AU 5 138962359 138962359 single base substitution C T intron_variant MELA-AU 5 138962590 138962590 single base substitution C T intron_variant MELA-AU 5 138962682 138962682 single base substitution C T intron_variant MELA-AU 5 138963009 138963009 single base substitution C T intron_variant MELA-AU 5 138964317 138964317 single base substitution C T intron_variant MELA-AU 5 138964515 138964515 single base substitution C T intron_variant MELA-AU 5 138964829 138964829 single base substitution C T intron_variant MELA-AU 5 138968624 138968624 single base substitution C T intron_variant MELA-AU 5 138969617 138969617 single base substitution C T intron_variant MELA-AU 5 138969733 138969733 single base substitution C T intron_variant MELA-AU 5 138970294 138970294 single base substitution C T intron_variant MELA-AU 5 138970580 138970580 single base substitution C T intron_variant MELA-AU 5 138970581 138970581 single base substitution C A intron_variant MELA-AU 5 138971135 138971135 single base substitution C T intron_variant MELA-AU 5 138972877 138972877 single base substitution C T intron_variant MELA-AU 5 138973235 138973235 single base substitution C A intron_variant MELA-AU 5 138973912 138973912 single base substitution T A intron_variant MELA-AU 5 138973991 138973991 single base substitution C T intron_variant MELA-AU 5 138974937 138974937 single base substitution C T intron_variant MELA-AU 5 138975035 138975035 single base substitution C T intron_variant MELA-AU 5 138975035 138975035 single base substitution C T upstream_gene_variant MELA-AU 5 138975249 138975249 single base substitution C T intron_variant MELA-AU 5 138975249 138975249 single base substitution C T upstream_gene_variant MELA-AU 5 138977692 138977692 single base substitution T A intron_variant MELA-AU 5 138977692 138977692 single base substitution T A upstream_gene_variant MELA-AU 5 138978554 138978554 single base substitution C T intron_variant MELA-AU 5 138978554 138978554 single base substitution C T upstream_gene_variant MELA-AU 5 138979245 138979245 single base substitution C T intron_variant MELA-AU 5 138979245 138979245 single base substitution C T upstream_gene_variant MELA-AU 5 138979480 138979480 single base substitution C T intron_variant MELA-AU 5 138979480 138979480 single base substitution C T upstream_gene_variant MELA-AU 5 138979624 138979624 single base substitution C T intron_variant MELA-AU 5 138979624 138979624 single base substitution C T upstream_gene_variant MELA-AU 5 138979673 138979673 single base substitution A T intron_variant MELA-AU 5 138979673 138979673 single base substitution A T upstream_gene_variant MELA-AU 5 138980510 138980510 single base substitution C T intron_variant MELA-AU 5 138981678 138981678 single base substitution C T intron_variant MELA-AU 5 138981703 138981703 single base substitution C T intron_variant MELA-AU 5 138981844 138981844 single base substitution C T intron_variant MELA-AU 5 138982724 138982724 single base substitution A T intron_variant MELA-AU 5 138984979 138984979 single base substitution C T intron_variant MELA-AU 5 138985149 138985149 single base substitution C T intron_variant MELA-AU 5 138985305 138985305 single base substitution C T intron_variant MELA-AU 5 138985968 138985968 single base substitution G A intron_variant MELA-AU 5 138986042 138986042 single base substitution C T intron_variant MELA-AU 5 138986994 138986994 single base substitution T G intron_variant MELA-AU 5 138987032 138987032 single base substitution C T intron_variant MELA-AU 5 138987708 138987708 single base substitution C T intron_variant MELA-AU 5 138989154 138989154 single base substitution C T intron_variant MELA-AU 5 138990048 138990049 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 138990813 138990813 single base substitution C T intron_variant MELA-AU 5 138991211 138991211 single base substitution G C intron_variant MELA-AU 5 138991977 138991977 single base substitution C T intron_variant MELA-AU 5 138992944 138992944 single base substitution T C intron_variant MELA-AU 5 138993198 138993198 single base substitution C T intron_variant MELA-AU 5 138995621 138995621 single base substitution A T downstream_gene_variant MELA-AU 5 138995621 138995621 single base substitution A T intron_variant MELA-AU 5 138995894 138995894 single base substitution G A downstream_gene_variant MELA-AU 5 138995894 138995894 single base substitution G A intron_variant MELA-AU 5 138995912 138995912 single base substitution C T downstream_gene_variant MELA-AU 5 138995912 138995912 single base substitution C T intron_variant MELA-AU 5 138996407 138996407 single base substitution C T downstream_gene_variant MELA-AU 5 138996407 138996407 single base substitution C T intron_variant MELA-AU 5 138997457 138997457 single base substitution C T downstream_gene_variant MELA-AU 5 138997457 138997457 single base substitution C T intron_variant MELA-AU 5 138997785 138997785 single base substitution C T downstream_gene_variant MELA-AU 5 138997785 138997785 single base substitution C T intron_variant MELA-AU 5 138997920 138997920 single base substitution C T downstream_gene_variant MELA-AU 5 138997920 138997920 single base substitution C T intron_variant MELA-AU 5 138998014 138998014 single base substitution C T downstream_gene_variant MELA-AU 5 138998014 138998014 single base substitution C T intron_variant MELA-AU 5 138998812 138998812 single base substitution T C downstream_gene_variant MELA-AU 5 138998812 138998812 single base substitution T C intron_variant MELA-AU 5 139000618 139000618 single base substitution C T intron_variant MELA-AU 5 139001079 139001079 single base substitution G A intron_variant MELA-AU 5 139001359 139001359 single base substitution C T intron_variant MELA-AU 5 139001940 139001940 single base substitution C T intron_variant MELA-AU 5 139002063 139002063 single base substitution C T intron_variant MELA-AU 5 139002794 139002794 single base substitution C T intron_variant MELA-AU 5 139002936 139002936 single base substitution G A intron_variant MELA-AU 5 139003400 139003400 single base substitution C T downstream_gene_variant MELA-AU 5 139003400 139003400 single base substitution C T intron_variant MELA-AU 5 139003442 139003442 single base substitution C T downstream_gene_variant MELA-AU 5 139003442 139003442 single base substitution C T intron_variant MELA-AU 5 139003601 139003601 single base substitution C T downstream_gene_variant MELA-AU 5 139003601 139003601 single base substitution C T intron_variant MELA-AU 5 139003829 139003829 single base substitution A G downstream_gene_variant MELA-AU 5 139003829 139003829 single base substitution A G intron_variant MELA-AU 5 139003957 139003957 single base substitution C T downstream_gene_variant MELA-AU 5 139003957 139003957 single base substitution C T intron_variant MELA-AU 5 139005777 139005777 single base substitution C T downstream_gene_variant MELA-AU 5 139005777 139005777 single base substitution C T intron_variant MELA-AU 5 139006358 139006358 single base substitution G A downstream_gene_variant MELA-AU 5 139006358 139006358 single base substitution G A exon_variant MELA-AU 5 139006358 139006358 single base substitution G A missense_variant R110Q 329G>A MELA-AU 5 139006358 139006358 single base substitution G A missense_variant R139Q 416G>A MELA-AU 5 139007040 139007040 single base substitution C T 3_prime_UTR_variant MELA-AU 5 139007040 139007040 single base substitution C T downstream_gene_variant MELA-AU 5 139007040 139007040 single base substitution C T intron_variant MELA-AU 5 139007208 139007208 single base substitution C T 3_prime_UTR_variant MELA-AU 5 139007208 139007208 single base substitution C T downstream_gene_variant MELA-AU 5 139007360 139007361 deletion of <=200bp TC - 3_prime_UTR_variant MELA-AU 5 139007360 139007361 deletion of <=200bp TC - downstream_gene_variant MELA-AU 5 139007470 139007470 single base substitution A G 3_prime_UTR_variant MELA-AU 5 139007470 139007470 single base substitution A G downstream_gene_variant MELA-AU 5 139008063 139008063 single base substitution C T downstream_gene_variant MELA-AU 5 139008500 139008500 single base substitution C T downstream_gene_variant MELA-AU 5 139008531 139008531 single base substitution C T downstream_gene_variant MELA-AU 5 139008986 139008986 single base substitution C T downstream_gene_variant MELA-AU 5 139009552 139009552 single base substitution T C downstream_gene_variant MELA-AU 5 139009635 139009635 single base substitution C T downstream_gene_variant MELA-AU 5 139011593 139011593 single base substitution C T downstream_gene_variant MELA-AU 5 139011722 139011722 single base substitution C T downstream_gene_variant MELA-AU 5 139011726 139011727 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 139011803 139011803 single base substitution C T downstream_gene_variant MELA-AU 5 139012249 139012249 single base substitution G A downstream_gene_variant ORCA-IN 5 138950343 138950343 single base substitution A G intron_variant ORCA-IN 5 138958055 138958055 single base substitution T G intron_variant ORCA-IN 5 138987352 138987352 single base substitution T C intron_variant OV-AU 5 138903152 138903152 single base substitution C T upstream_gene_variant OV-AU 5 138909802 138909802 single base substitution T G intron_variant OV-AU 5 138909806 138909806 single base substitution C G intron_variant OV-AU 5 138910085 138910085 single base substitution A G intron_variant OV-AU 5 138910908 138910908 single base substitution C G intron_variant OV-AU 5 138916667 138916667 single base substitution C G intron_variant OV-AU 5 138917969 138917969 single base substitution C G intron_variant OV-AU 5 138921482 138921482 single base substitution C A intron_variant OV-AU 5 138926291 138926291 single base substitution G A intron_variant OV-AU 5 138927164 138927164 single base substitution G A intron_variant OV-AU 5 138929990 138929990 single base substitution A G intron_variant OV-AU 5 138932056 138932056 single base substitution A C intron_variant OV-AU 5 138934817 138934817 single base substitution G T intron_variant OV-AU 5 138937474 138937474 single base substitution C A intron_variant OV-AU 5 138937474 138937474 single base substitution C A upstream_gene_variant OV-AU 5 138939433 138939433 single base substitution T C intron_variant OV-AU 5 138939433 138939433 single base substitution T C upstream_gene_variant OV-AU 5 138939434 138939434 single base substitution T A intron_variant OV-AU 5 138939434 138939434 single base substitution T A upstream_gene_variant OV-AU 5 138939435 138939435 single base substitution C G intron_variant OV-AU 5 138939435 138939435 single base substitution C G upstream_gene_variant OV-AU 5 138939868 138939868 single base substitution C T intron_variant OV-AU 5 138939868 138939868 single base substitution C T upstream_gene_variant OV-AU 5 138943664 138943664 single base substitution T G intron_variant OV-AU 5 138950659 138950659 single base substitution A T intron_variant OV-AU 5 138956262 138956262 single base substitution T G intron_variant OV-AU 5 138956419 138956419 single base substitution T C intron_variant OV-AU 5 138961027 138961027 single base substitution C T intron_variant OV-AU 5 138970713 138970713 single base substitution T C intron_variant OV-AU 5 138973654 138973654 single base substitution C G intron_variant OV-AU 5 138977556 138977556 single base substitution G C intron_variant OV-AU 5 138977556 138977556 single base substitution G C upstream_gene_variant OV-AU 5 138977772 138977772 single base substitution T A intron_variant OV-AU 5 138977772 138977772 single base substitution T A upstream_gene_variant OV-AU 5 138990141 138990141 single base substitution T A intron_variant OV-AU 5 138990748 138990748 single base substitution C G intron_variant OV-AU 5 139002607 139002607 single base substitution C T intron_variant OV-AU 5 139007512 139007512 single base substitution G C 3_prime_UTR_variant OV-AU 5 139007512 139007512 single base substitution G C downstream_gene_variant OV-AU 5 139009837 139009837 single base substitution T A downstream_gene_variant PACA-AU 5 138911247 138911247 single base substitution G T intron_variant PACA-AU 5 138916797 138916797 single base substitution T C intron_variant PACA-AU 5 138918563 138918563 single base substitution C T intron_variant PACA-AU 5 138922030 138922030 single base substitution C T intron_variant PACA-AU 5 138922044 138922044 single base substitution C T intron_variant PACA-AU 5 138924555 138924555 single base substitution G T intron_variant PACA-AU 5 138925489 138925489 single base substitution T G intron_variant PACA-AU 5 138928527 138928527 single base substitution G A intron_variant PACA-AU 5 138928980 138928980 single base substitution C T intron_variant PACA-AU 5 138930966 138930966 single base substitution A T intron_variant PACA-AU 5 138936018 138936018 single base substitution A T intron_variant PACA-AU 5 138936018 138936018 single base substitution A T upstream_gene_variant PACA-AU 5 138937378 138937378 single base substitution G A intron_variant PACA-AU 5 138937378 138937378 single base substitution G A upstream_gene_variant PACA-AU 5 138941101 138941101 single base substitution T G 5_prime_UTR_variant PACA-AU 5 138941101 138941101 single base substitution T G intron_variant PACA-AU 5 138941101 138941101 single base substitution T G upstream_gene_variant PACA-AU 5 138948220 138948220 single base substitution C T intron_variant PACA-AU 5 138952679 138952679 single base substitution G A intron_variant PACA-AU 5 138953666 138953666 single base substitution C A intron_variant PACA-AU 5 138973211 138973211 insertion of <=200bp - C intron_variant PACA-AU 5 138977655 138977655 single base substitution T C intron_variant PACA-AU 5 138977655 138977655 single base substitution T C upstream_gene_variant PACA-AU 5 138988131 138988131 single base substitution G T intron_variant PACA-AU 5 138988238 138988238 single base substitution G C intron_variant PACA-AU 5 138997857 138997857 single base substitution C T downstream_gene_variant PACA-AU 5 138997857 138997857 single base substitution C T intron_variant PACA-AU 5 139004295 139004295 single base substitution C T downstream_gene_variant PACA-AU 5 139004295 139004295 single base substitution C T intron_variant PACA-AU 5 139008254 139008254 single base substitution T C downstream_gene_variant PACA-CA 5 138901334 138901334 single base substitution G A upstream_gene_variant PACA-CA 5 138902376 138902376 single base substitution T A upstream_gene_variant PACA-CA 5 138910953 138910953 single base substitution C T intron_variant PACA-CA 5 138911220 138911220 single base substitution A G intron_variant PACA-CA 5 138914334 138914334 deletion of <=200bp A - intron_variant PACA-CA 5 138915410 138915410 single base substitution T C intron_variant PACA-CA 5 138916236 138916236 single base substitution C T intron_variant PACA-CA 5 138916592 138916592 single base substitution G A intron_variant PACA-CA 5 138925391 138925391 single base substitution C A intron_variant PACA-CA 5 138927185 138927185 single base substitution C A intron_variant PACA-CA 5 138929220 138929220 single base substitution C T intron_variant PACA-CA 5 138935315 138935315 single base substitution C A intron_variant PACA-CA 5 138941960 138941960 single base substitution T C 5_prime_UTR_variant PACA-CA 5 138941960 138941960 single base substitution T C intron_variant PACA-CA 5 138942212 138942212 single base substitution A G intron_variant PACA-CA 5 138952603 138952603 single base substitution G C intron_variant PACA-CA 5 138954779 138954779 single base substitution T C intron_variant PACA-CA 5 138964050 138964050 single base substitution G A intron_variant PACA-CA 5 138965310 138965310 single base substitution C T intron_variant PACA-CA 5 138969536 138969536 single base substitution A G intron_variant PACA-CA 5 138969919 138969919 single base substitution C T intron_variant PACA-CA 5 138974869 138974869 single base substitution C T intron_variant PACA-CA 5 138975327 138975327 single base substitution A T intron_variant PACA-CA 5 138975327 138975327 single base substitution A T upstream_gene_variant PACA-CA 5 138983841 138983841 single base substitution T G intron_variant PACA-CA 5 138986556 138986556 single base substitution A T intron_variant PACA-CA 5 138987055 138987055 single base substitution A G intron_variant PACA-CA 5 138989245 138989245 single base substitution C A intron_variant PACA-CA 5 138989643 138989643 single base substitution G A intron_variant PACA-CA 5 138991018 138991018 single base substitution C T intron_variant PACA-CA 5 138994197 138994197 single base substitution G A exon_variant PACA-CA 5 138994197 138994197 single base substitution G A missense_variant G10R 28G>A PACA-CA 5 138994197 138994197 single base substitution G A missense_variant G39R 115G>A PACA-CA 5 138997915 138997915 single base substitution A C downstream_gene_variant PACA-CA 5 138997915 138997915 single base substitution A C intron_variant PACA-CA 5 139004040 139004040 single base substitution C T downstream_gene_variant PACA-CA 5 139004040 139004040 single base substitution C T intron_variant PACA-CA 5 139004761 139004761 single base substitution G A downstream_gene_variant PACA-CA 5 139004761 139004761 single base substitution G A intron_variant PACA-CA 5 139005657 139005657 single base substitution T C downstream_gene_variant PACA-CA 5 139005657 139005657 single base substitution T C intron_variant PAEN-AU 5 138911528 138911528 single base substitution T C intron_variant PAEN-AU 5 138919965 138919965 deletion of <=200bp C - intron_variant PAEN-AU 5 138938782 138938782 single base substitution C T intron_variant PAEN-AU 5 138938782 138938782 single base substitution C T upstream_gene_variant PAEN-AU 5 138981521 138981521 single base substitution T G intron_variant PAEN-IT 5 138901817 138901817 single base substitution C T upstream_gene_variant PAEN-IT 5 138916575 138916575 single base substitution T A intron_variant PAEN-IT 5 138990207 138990207 single base substitution C T intron_variant PAEN-IT 5 139007447 139007447 single base substitution G C 3_prime_UTR_variant PAEN-IT 5 139007447 139007447 single base substitution G C downstream_gene_variant PBCA-DE 5 138905057 138905057 single base substitution T C upstream_gene_variant PBCA-DE 5 138908723 138908723 single base substitution T C intron_variant PBCA-DE 5 138913237 138913237 insertion of <=200bp - A intron_variant PBCA-DE 5 138913675 138913675 deletion of <=200bp T - intron_variant PBCA-DE 5 138915678 138915678 deletion of <=200bp T - intron_variant PBCA-DE 5 138917332 138917332 single base substitution G A intron_variant PBCA-DE 5 138924193 138924194 deletion of <=200bp CA - intron_variant PBCA-DE 5 138928893 138928893 single base substitution G A intron_variant PBCA-DE 5 138937104 138937104 single base substitution G A intron_variant PBCA-DE 5 138937104 138937104 single base substitution G A upstream_gene_variant PBCA-DE 5 138973366 138973366 insertion of <=200bp - A intron_variant PBCA-DE 5 138979975 138979975 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PBCA-DE 5 138979975 138979975 single base substitution C T exon_variant PBCA-DE 5 138979975 138979975 single base substitution C T missense_variant R15W 43C>T PBCA-DE 5 138979975 138979975 single base substitution C T upstream_gene_variant PBCA-DE 5 138985451 138985451 single base substitution G A intron_variant PBCA-DE 5 138994515 138994515 single base substitution C T downstream_gene_variant PBCA-DE 5 138994515 138994515 single base substitution C T exon_variant PBCA-DE 5 138994515 138994515 single base substitution C T stop_gained R61* 181C>T PBCA-DE 5 138994515 138994515 single base substitution C T stop_gained R90* 268C>T PBCA-DE 5 138999449 138999449 deletion of <=200bp A - intron_variant PBCA-DE 5 139002080 139002080 single base substitution C T intron_variant PBCA-DE 5 139011885 139011885 single base substitution C A downstream_gene_variant PRAD-CA 5 138918326 138918326 single base substitution C T intron_variant PRAD-CA 5 138926418 138926418 single base substitution C T intron_variant PRAD-CA 5 138938235 138938235 single base substitution C A intron_variant PRAD-CA 5 138938235 138938235 single base substitution C A upstream_gene_variant PRAD-CA 5 138952898 138952898 single base substitution G A intron_variant PRAD-CA 5 138970028 138970028 single base substitution T A intron_variant PRAD-CA 5 138970898 138970898 single base substitution T G intron_variant PRAD-UK 5 138920899 138920899 single base substitution C T intron_variant PRAD-UK 5 138934789 138934789 single base substitution C A intron_variant PRAD-UK 5 138937498 138937498 single base substitution T A intron_variant PRAD-UK 5 138937498 138937498 single base substitution T A upstream_gene_variant PRAD-UK 5 138961811 138961811 single base substitution G T intron_variant PRAD-UK 5 138979556 138979556 insertion of <=200bp - T intron_variant PRAD-UK 5 138979556 138979556 insertion of <=200bp - T upstream_gene_variant PRAD-UK 5 138979562 138979562 insertion of <=200bp - T intron_variant PRAD-UK 5 138979562 138979562 insertion of <=200bp - T upstream_gene_variant PRAD-UK 5 138985538 138985538 single base substitution C T intron_variant PRAD-UK 5 138988024 138988024 deletion of <=200bp G - intron_variant PRAD-UK 5 139006475 139006475 single base substitution A G 3_prime_UTR_variant PRAD-UK 5 139006475 139006475 single base substitution A G downstream_gene_variant PRAD-UK 5 139009596 139009596 single base substitution A C downstream_gene_variant RECA-EU 5 138901927 138901927 single base substitution G T upstream_gene_variant RECA-EU 5 138905488 138905488 single base substitution T C upstream_gene_variant RECA-EU 5 138909881 138909881 single base substitution C G intron_variant RECA-EU 5 138919083 138919083 single base substitution A T intron_variant RECA-EU 5 138925288 138925288 single base substitution C T intron_variant RECA-EU 5 138930870 138930870 single base substitution G A intron_variant RECA-EU 5 138936696 138936696 single base substitution G C intron_variant RECA-EU 5 138936696 138936696 single base substitution G C upstream_gene_variant RECA-EU 5 138937096 138937096 single base substitution G A intron_variant RECA-EU 5 138937096 138937096 single base substitution G A upstream_gene_variant RECA-EU 5 138937097 138937097 single base substitution C T intron_variant RECA-EU 5 138937097 138937097 single base substitution C T upstream_gene_variant RECA-EU 5 138938695 138938695 single base substitution T C intron_variant RECA-EU 5 138938695 138938695 single base substitution T C upstream_gene_variant RECA-EU 5 138957743 138957743 single base substitution T C intron_variant RECA-EU 5 138974183 138974183 single base substitution C T intron_variant RECA-EU 5 138991192 138991192 single base substitution T C intron_variant RECA-EU 5 138993603 138993603 single base substitution C T intron_variant RECA-EU 5 138999406 138999406 single base substitution C A intron_variant RECA-EU 5 139003546 139003546 single base substitution G A downstream_gene_variant RECA-EU 5 139003546 139003546 single base substitution G A intron_variant RECA-EU 5 139005101 139005101 single base substitution T A downstream_gene_variant RECA-EU 5 139005101 139005101 single base substitution T A intron_variant RECA-EU 5 139008098 139008098 single base substitution C G downstream_gene_variant RECA-EU 5 139008099 139008099 single base substitution A G downstream_gene_variant SKCA-BR 5 138901619 138901619 single base substitution G A upstream_gene_variant SKCA-BR 5 138902272 138902272 single base substitution T A upstream_gene_variant SKCA-BR 5 138904252 138904252 single base substitution G A upstream_gene_variant SKCA-BR 5 138904306 138904306 single base substitution A C upstream_gene_variant SKCA-BR 5 138905435 138905435 single base substitution G A upstream_gene_variant SKCA-BR 5 138906594 138906594 single base substitution G A intron_variant SKCA-BR 5 138907516 138907516 single base substitution C T intron_variant SKCA-BR 5 138909138 138909138 single base substitution C T intron_variant SKCA-BR 5 138910467 138910467 single base substitution A G intron_variant SKCA-BR 5 138911758 138911758 insertion of <=200bp - CT intron_variant SKCA-BR 5 138912692 138912692 insertion of <=200bp - CA intron_variant SKCA-BR 5 138913815 138913815 single base substitution C T intron_variant SKCA-BR 5 138915192 138915192 single base substitution T G intron_variant SKCA-BR 5 138915548 138915548 single base substitution G A intron_variant SKCA-BR 5 138918281 138918281 single base substitution C A intron_variant SKCA-BR 5 138919127 138919127 single base substitution T A intron_variant SKCA-BR 5 138919207 138919207 single base substitution C T intron_variant SKCA-BR 5 138919273 138919273 single base substitution T G intron_variant SKCA-BR 5 138919828 138919828 single base substitution C T intron_variant SKCA-BR 5 138924306 138924306 single base substitution T C intron_variant SKCA-BR 5 138927717 138927717 single base substitution C T intron_variant SKCA-BR 5 138927726 138927726 single base substitution G A intron_variant SKCA-BR 5 138927732 138927732 single base substitution G A intron_variant SKCA-BR 5 138927735 138927735 single base substitution C G intron_variant SKCA-BR 5 138927736 138927736 single base substitution G A intron_variant SKCA-BR 5 138927743 138927743 single base substitution C T intron_variant SKCA-BR 5 138927774 138927774 single base substitution A T intron_variant SKCA-BR 5 138928616 138928616 single base substitution G A intron_variant SKCA-BR 5 138928826 138928826 single base substitution C T intron_variant SKCA-BR 5 138929091 138929091 single base substitution T G intron_variant SKCA-BR 5 138929232 138929232 single base substitution G A intron_variant SKCA-BR 5 138929295 138929295 single base substitution C T intron_variant SKCA-BR 5 138929348 138929348 single base substitution C T intron_variant SKCA-BR 5 138929843 138929843 single base substitution C T intron_variant SKCA-BR 5 138930654 138930654 single base substitution A G intron_variant SKCA-BR 5 138930661 138930661 single base substitution A G intron_variant SKCA-BR 5 138930664 138930664 single base substitution T G intron_variant SKCA-BR 5 138931748 138931748 insertion of <=200bp - CTT intron_variant SKCA-BR 5 138932094 138932095 deletion of <=200bp CT - intron_variant SKCA-BR 5 138932644 138932644 single base substitution T C intron_variant SKCA-BR 5 138934255 138934255 single base substitution C T intron_variant SKCA-BR 5 138938094 138938094 single base substitution T C intron_variant SKCA-BR 5 138938094 138938094 single base substitution T C upstream_gene_variant SKCA-BR 5 138938394 138938394 insertion of <=200bp - CT intron_variant SKCA-BR 5 138938394 138938394 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 5 138938406 138938406 single base substitution G A intron_variant SKCA-BR 5 138938406 138938406 single base substitution G A upstream_gene_variant SKCA-BR 5 138940909 138940909 single base substitution A C 5_prime_UTR_variant SKCA-BR 5 138940909 138940909 single base substitution A C intron_variant SKCA-BR 5 138940909 138940909 single base substitution A C upstream_gene_variant SKCA-BR 5 138941160 138941160 single base substitution A G 5_prime_UTR_variant SKCA-BR 5 138941160 138941160 single base substitution A G intron_variant SKCA-BR 5 138941160 138941160 single base substitution A G upstream_gene_variant SKCA-BR 5 138941728 138941728 single base substitution T G 5_prime_UTR_variant SKCA-BR 5 138941728 138941728 single base substitution T G intron_variant SKCA-BR 5 138943073 138943073 single base substitution A G intron_variant SKCA-BR 5 138948046 138948046 single base substitution C T intron_variant SKCA-BR 5 138949161 138949161 single base substitution C A intron_variant SKCA-BR 5 138953302 138953302 single base substitution C T intron_variant SKCA-BR 5 138955406 138955406 single base substitution C T intron_variant SKCA-BR 5 138956528 138956528 insertion of <=200bp - CT intron_variant SKCA-BR 5 138962562 138962562 single base substitution C T intron_variant SKCA-BR 5 138964406 138964406 single base substitution C T intron_variant SKCA-BR 5 138965168 138965168 single base substitution C T intron_variant SKCA-BR 5 138966137 138966137 single base substitution T G intron_variant SKCA-BR 5 138966965 138966965 single base substitution C A intron_variant SKCA-BR 5 138972180 138972181 deletion of <=200bp TC - intron_variant SKCA-BR 5 138972479 138972479 single base substitution C T intron_variant SKCA-BR 5 138989309 138989309 single base substitution T A intron_variant SKCA-BR 5 138989875 138989875 single base substitution C T intron_variant SKCA-BR 5 138989876 138989876 single base substitution C T intron_variant SKCA-BR 5 138989946 138989946 single base substitution T G intron_variant SKCA-BR 5 138990140 138990140 single base substitution T A intron_variant SKCA-BR 5 138990537 138990537 single base substitution T G intron_variant SKCA-BR 5 138991454 138991454 single base substitution A G intron_variant SKCA-BR 5 138995278 138995278 single base substitution T G downstream_gene_variant SKCA-BR 5 138995278 138995278 single base substitution T G intron_variant SKCA-BR 5 138999727 138999727 single base substitution C T intron_variant SKCA-BR 5 139002630 139002630 single base substitution T A intron_variant THCA-SA 5 138941887 138941887 single base substitution A G 5_prime_UTR_variant THCA-SA 5 138941887 138941887 single base substitution A G intron_variant UCEC-US 5 138994462 138994462 single base substitution G T downstream_gene_variant UCEC-US 5 138994462 138994462 single base substitution G T exon_variant UCEC-US 5 138994462 138994462 single base substitution G T missense_variant R43I 128G>T UCEC-US 5 138994462 138994462 single base substitution G T missense_variant R72I 215G>T UCEC-US 5 139002988 139002988 single base substitution A G exon_variant UCEC-US 5 139002988 139002988 single base substitution A G missense_variant N114D 340A>G UCEC-US 5 139002988 139002988 single base substitution A G missense_variant N85D 253A>G UCEC-US 5 139006340 139006340 single base substitution G T downstream_gene_variant UCEC-US 5 139006340 139006340 single base substitution G T splice_acceptor_variant UCEC-US 5 139006355 139006355 single base substitution C T downstream_gene_variant UCEC-US 5 139006355 139006355 single base substitution C T exon_variant UCEC-US 5 139006355 139006355 single base substitution C T missense_variant A109V 326C>T UCEC-US 5 139006355 139006355 single base substitution C T missense_variant A138V 413C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand MB122PT COSM88031 c.268C>T p.R90* Substitution - Nonsense 5:139614930-139614930 + TCGA-AP-A059-01 COSM1061556 c.413C>T p.A138V Substitution - Missense 5:139626770-139626770 + LFS_MB2 COSM88031 c.268C>T p.R90* Substitution - Nonsense 5:139614930-139614930 + TCGA-33-6737-01 COSM735486 c.104C>T p.A35V Substitution - Missense 5:139614601-139614601 + TCGA-AX-A05Z-01 COSM1061550 c.215G>T p.R72I Substitution - Missense 5:139614877-139614877 + TCGA-A2-A0YK-01 COSM448680 c.93C>G p.F31L Substitution - Missense 5:139614590-139614590 + Gp5D COSM3238100 c.118C>T p.P40S Substitution - Missense 5:139614615-139614615 + RK212_C01 COSM3768151 c.87T>C p.D29D Substitution - coding silent 5:139600434-139600434 + LS180 COSM3238104 c.288_291delACTA p.T98fs*21 Deletion - Frameshift 5:139614950-139614953 + TCGA-AU-6004-01 COSM1433488 c.244G>A p.G82S Substitution - Missense 5:139614906-139614906 + BCM325T COSM5347961 c.220delT p.Y74fs*24 Deletion - Frameshift 5:139614882-139614882 + TCGA-AG-A002-01 COSM264516 c.199-6C>T p.? Unknown 5:139614855-139614855 + CSCC-56-T COSM4487994 c.325C>T p.L109L Substitution - coding silent 5:139623388-139623388 + TCGA-B0-4710-01 COSM482026 c.424A>G p.T142A Substitution - Missense 5:139626781-139626781 + TCGA-AX-A05Z-01 COSM1061551 c.340A>G p.N114D Substitution - Missense 5:139623403-139623403 + CRC-03T COSM5451792 c.249C>T p.S83S Substitution - coding silent 5:139614911-139614911 + TCGA-DC-4749-01 COSM5076696 c.22A>G p.K8E Substitution - Missense 5:139561813-139561813 + TCGA-34-5231-01 COSM735485 c.136C>G p.Q46E Substitution - Missense 5:139614712-139614712 + TCGA-E2-A1IN-01 COSM1486332 c.85G>A p.D29N Substitution - Missense 5:139600432-139600432 + TCGA-AO-A03O-01 COSM448681 c.181C>T p.P61S Substitution - Missense 5:139614757-139614757 + ESCC_141 COSM735485 c.136C>G p.Q46E Substitution - Missense 5:139614712-139614712 + Pat_53_B COSM88031 c.268C>T p.R90* Substitution - Nonsense 5:139614930-139614930 + Gp2D COSM3238100 c.118C>T p.P40S Substitution - Missense 5:139614615-139614615 + LS174T COSM3238104 c.288_291delACTA p.T98fs*21 Deletion - Frameshift 5:139614950-139614953 + TCGA-B4-5836-01 COSM1495988 c.362C>T p.P121L Substitution - Missense 5:139623425-139623425 + 951_T COSM3946886 c.54A>T p.P18P Substitution - coding silent 5:139600401-139600401 + TCGA-AP-A059-01 COSM1061555 c.399-1G>T p.? Unknown 5:139626755-139626755 + Pat_60_B COSM5867400 c.394G>A p.E132K Substitution - Missense 5:139623457-139623457 + ME009T COSM223028 c.418G>A p.E140K Substitution - Missense 5:139626775-139626775 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.108332 5q31.2 602962 2476479|CGAP|BC033349|A/T|non-coding||1692|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.H55R c.164A>G 5 138994325 LUAD C G Missense p.F31L c.93C>G 5 138994175 BRCA C G Missense p.Q46E c.136C>G 5 138994297 LUSC C T Missense p.A35V c.104C>T 5 138994186 LUSC C T Missense p.P18S c.52C>T 5 138979984 CM C T Missense p.P61S c.181C>T 5 138994342 BRCA C T Missense p.R15W c.43C>T 5 138979975 MB C T Nonsense p.R90* c.268C>T 5 138994515 MB G A IntronicSNV . c.25-16628G>A 5 138963329 PIA G A Missense p.D29N c.85G>A 5 138980017 BRCA G A Missense p.E140K c.418G>A 5 139006360 CM G C IntronicSNV . c.24+14881G>C 5 138956281 PIA G C Missense p.E9Q c.25G>C 5 138979957 HNSC