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 10 90661491 90661491 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 g.chr10:90661491C>G c.26C>G c.(25-27)tCt>tGt p.S9C BLCA 10 90672881 90672881 + Silent SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 g.chr10:90672881C>G c.444C>G c.(442-444)ctC>ctG p.L148L BLCA 10 90682973 90682973 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr10:90682973C>A c.1303C>A c.(1303-1305)Ctg>Atg p.L435M BRCA 10 90661472 90661472 + Missense_Mutation SNP C C A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 g.chr10:90661472C>A c.7C>A c.(7-9)Cag>Aag p.Q3K BRCA 10 90672857 90672857 + Splice_Site SNP G G T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 g.chr10:90672857G>T c.e6-1 CESC 10 90668531 90668531 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 g.chr10:90668531G>C c.321G>C c.(319-321)atG>atC p.M107I CESC 10 90673020 90673020 + Nonsense_Mutation SNP C C T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 g.chr10:90673020C>T c.583C>T c.(583-585)Cga>Tga p.R195* COAD 10 90668503 90668503 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr10:90668503G>A c.293G>A c.(292-294)tGt>tAt p.C98Y COAD 10 90674328 90674330 + In_Frame_Del DEL AGA AGA - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr10:90674328_90674330delAGA c.816_818delAGA c.(814-819)ccagaa>cca p.E273del COAD 10 90676486 90676486 + Missense_Mutation SNP C C A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr10:90676486C>A c.953C>A c.(952-954)gCg>gAg p.A318E COAD 10 90676487 90676487 + Silent SNP G G T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr10:90676487G>T c.954G>T c.(952-954)gcG>gcT p.A318A COAD 10 90676554 90676554 + Missense_Mutation SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr10:90676554C>A c.1021C>A c.(1021-1023)Ctc>Atc p.L341I COAD 10 90682955 90682955 + Missense_Mutation SNP A A C TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr10:90682955A>C c.1285A>C c.(1285-1287)Aaa>Caa p.K429Q COADREAD 10 90668503 90668503 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr10:90668503G>A c.293G>A c.(292-294)tGt>tAt p.C98Y COADREAD 10 90674328 90674330 + In_Frame_Del DEL AGA AGA - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr10:90674328_90674330delAGA c.816_818delAGA c.(814-819)ccagaa>cca p.E273del COADREAD 10 90676446 90676446 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:90676446G>T c.913G>T c.(913-915)Gaa>Taa p.E305* COADREAD 10 90676486 90676486 + Missense_Mutation SNP C C A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr10:90676486C>A c.953C>A c.(952-954)gCg>gAg p.A318E COADREAD 10 90676486 90676486 + Missense_Mutation SNP C C T TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr10:90676486C>T c.953C>T c.(952-954)gCg>gTg p.A318V COADREAD 10 90676487 90676487 + Silent SNP G G T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr10:90676487G>T c.954G>T c.(952-954)gcG>gcT p.A318A COADREAD 10 90676554 90676554 + Missense_Mutation SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr10:90676554C>A c.1021C>A c.(1021-1023)Ctc>Atc p.L341I COADREAD 10 90682955 90682955 + Missense_Mutation SNP A A C TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr10:90682955A>C c.1285A>C c.(1285-1287)Aaa>Caa p.K429Q ESCA 10 90672881 90672882 + Frame_Shift_Ins INS - - A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 g.chr10:90672881_90672882insA c.444_445insA c.(445-447)aaafs p.K149fs ESCA 10 90672913 90672913 + Missense_Mutation SNP C C A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 g.chr10:90672913C>A c.476C>A c.(475-477)gCa>gAa p.A159E ESCA 10 90676487 90676487 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr10:90676487G>T c.954G>T c.(952-954)gcG>gcT p.A318A GBM 10 90665247 90665247 + Silent SNP A A T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 g.chr10:90665247A>T c.78A>T c.(76-78)ccA>ccT p.P26P GBM 10 90674395 90674395 + Nonsense_Mutation SNP G G T TCGA-12-0619-01A-01D-1492-08 TCGA-12-0619-10A-01D-1492-08 g.chr10:90674395G>T c.883G>T c.(883-885)Gga>Tga p.G295* GBMLGG 10 90665247 90665247 + Silent SNP A A T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 g.chr10:90665247A>T c.78A>T c.(76-78)ccA>ccT p.P26P GBMLGG 10 90673204 90673204 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 g.chr10:90673204G>A c.767G>A c.(766-768)aGt>aAt p.S256N GBMLGG 10 90674395 90674395 + Nonsense_Mutation SNP G G T TCGA-12-0619-01A-01D-1492-08 TCGA-12-0619-10A-01D-1492-08 g.chr10:90674395G>T c.883G>T c.(883-885)Gga>Tga p.G295* HNSC 10 90665297 90665297 + Missense_Mutation SNP G G T TCGA-CV-A461-01A-41D-A25Y-08 TCGA-CV-A461-10A-01D-A25Y-08 g.chr10:90665297G>T c.128G>T c.(127-129)aGt>aTt p.S43I HNSC 10 90665316 90665316 + Silent SNP A A G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 g.chr10:90665316A>G c.147A>G c.(145-147)cgA>cgG p.R49R HNSC 10 90665380 90665380 + Missense_Mutation SNP T T A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 g.chr10:90665380T>A c.211T>A c.(211-213)Ttg>Atg p.L71M HNSC 10 90682924 90682924 + Splice_Site SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 g.chr10:90682924G>C c.e11-1 KIPAN 10 90682964 90682964 + Missense_Mutation SNP G G T TCGA-B8-4148-01A-02D-1386-10 TCGA-B8-4148-10A-01D-1251-10 g.chr10:90682964G>T c.1294G>T c.(1294-1296)Gtg>Ttg p.V432L KIRC 10 90682964 90682964 + Missense_Mutation SNP G G T TCGA-B8-4148-01A-02D-1386-10 TCGA-B8-4148-10A-01D-1251-10 g.chr10:90682964G>T c.1294G>T c.(1294-1296)Gtg>Ttg p.V432L LGG 10 90673204 90673204 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 g.chr10:90673204G>A c.767G>A c.(766-768)aGt>aAt p.S256N LUAD 10 90665309 90665309 + Missense_Mutation SNP C C T TCGA-62-A470-01A-11D-A24D-08 TCGA-62-A470-10A-01D-A24F-08 g.chr10:90665309C>T c.140C>T c.(139-141)aCt>aTt p.T47I LUAD 10 90670738 90670738 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 g.chr10:90670738C>T c.390C>T c.(388-390)aaC>aaT p.N130N LUAD 10 90672978 90672978 + Missense_Mutation SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr10:90672978G>A c.541G>A c.(541-543)Gaa>Aaa p.E181K OV 10 90676486 90676486 + Missense_Mutation SNP C C A TCGA-24-1474-01A-01W-0551-08 TCGA-24-1474-10A-01W-0551-08 g.chr10:90676486C>A c.953C>A c.(952-954)gCg>gAg p.A318E PAAD 10 90673146 90673146 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr10:90673146A>G c.709A>G c.(709-711)Aat>Gat p.N237D PRAD 10 90672938 90672938 + Missense_Mutation SNP G G A TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 g.chr10:90672938G>A c.501G>A c.(499-501)atG>atA p.M167I PRAD 10 90672939 90672939 + Missense_Mutation SNP C C G TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 g.chr10:90672939C>G c.502C>G c.(502-504)Cgc>Ggc p.R168G PRAD 10 90673111 90673111 + Missense_Mutation SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr10:90673111T>C c.674T>C c.(673-675)gTa>gCa p.V225A READ 10 90676446 90676446 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:90676446G>T c.913G>T c.(913-915)Gaa>Taa p.E305* READ 10 90676486 90676486 + Missense_Mutation SNP C C T TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr10:90676486C>T c.953C>T c.(952-954)gCg>gTg p.A318V SKCM 10 90665351 90665351 + Missense_Mutation SNP T T G TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr10:90665351T>G c.182T>G c.(181-183)aTg>aGg p.M61R SKCM 10 90673100 90673100 + Silent SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr10:90673100C>T c.663C>T c.(661-663)tcC>tcT p.S221S SKCM 10 90673158 90673158 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr10:90673158C>T c.721C>T c.(721-723)Cac>Tac p.H241Y

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 10 90672881 90672881 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 10 90672881 90672881 single base substitution C G synonymous_variant L148L 444C>G BLCA-US 10 90695108 90695108 single base substitution C T intron_variant BLCA-US 10 90697972 90697972 single base substitution G T intron_variant BLCA-US 10 90701132 90701132 single base substitution G A intron_variant BOCA-FR 10 90650813 90650813 single base substitution C T intron_variant BRCA-EU 10 90634851 90634851 single base substitution C G upstream_gene_variant BRCA-EU 10 90636368 90636368 single base substitution C A upstream_gene_variant BRCA-EU 10 90637378 90637378 single base substitution C G upstream_gene_variant BRCA-EU 10 90638682 90638682 single base substitution T C upstream_gene_variant BRCA-EU 10 90638765 90638765 single base substitution C T upstream_gene_variant BRCA-EU 10 90641159 90641159 single base substitution C T intron_variant BRCA-EU 10 90641159 90641159 single base substitution C T upstream_gene_variant BRCA-EU 10 90641364 90641364 single base substitution T C intron_variant BRCA-EU 10 90641364 90641364 single base substitution T C upstream_gene_variant BRCA-EU 10 90642139 90642139 single base substitution A G intron_variant BRCA-EU 10 90642522 90642522 single base substitution C T exon_variant BRCA-EU 10 90642522 90642522 single base substitution C T intron_variant BRCA-EU 10 90642656 90642656 single base substitution G A downstream_gene_variant BRCA-EU 10 90642656 90642656 single base substitution G A intron_variant BRCA-EU 10 90643652 90643652 deletion of <=200bp T - downstream_gene_variant BRCA-EU 10 90643652 90643652 deletion of <=200bp T - intron_variant BRCA-EU 10 90643979 90643979 single base substitution A G downstream_gene_variant BRCA-EU 10 90643979 90643979 single base substitution A G intron_variant BRCA-EU 10 90644983 90644983 single base substitution G T downstream_gene_variant BRCA-EU 10 90644983 90644983 single base substitution G T intron_variant BRCA-EU 10 90646642 90646642 single base substitution G T downstream_gene_variant BRCA-EU 10 90646642 90646642 single base substitution G T intron_variant BRCA-EU 10 90650366 90650366 single base substitution T A intron_variant BRCA-EU 10 90651819 90651819 insertion of <=200bp - A intron_variant BRCA-EU 10 90652630 90652630 single base substitution C T intron_variant BRCA-EU 10 90654474 90654474 single base substitution G A downstream_gene_variant BRCA-EU 10 90654474 90654474 single base substitution G A intron_variant BRCA-EU 10 90654585 90654585 single base substitution C A downstream_gene_variant BRCA-EU 10 90654585 90654585 single base substitution C A intron_variant BRCA-EU 10 90655638 90655638 single base substitution G T downstream_gene_variant BRCA-EU 10 90655638 90655638 single base substitution G T intron_variant BRCA-EU 10 90656337 90656337 single base substitution G T downstream_gene_variant BRCA-EU 10 90656337 90656337 single base substitution G T intron_variant BRCA-EU 10 90656337 90656337 single base substitution G T upstream_gene_variant BRCA-EU 10 90657307 90657307 single base substitution C G downstream_gene_variant BRCA-EU 10 90657307 90657307 single base substitution C G intron_variant BRCA-EU 10 90657307 90657307 single base substitution C G upstream_gene_variant BRCA-EU 10 90659576 90659576 single base substitution C G intron_variant BRCA-EU 10 90659576 90659576 single base substitution C G upstream_gene_variant BRCA-EU 10 90659765 90659765 single base substitution T C intron_variant BRCA-EU 10 90659765 90659765 single base substitution T C upstream_gene_variant BRCA-EU 10 90662677 90662677 single base substitution C T intron_variant BRCA-EU 10 90663397 90663397 single base substitution C G intron_variant BRCA-EU 10 90664608 90664608 insertion of <=200bp - A intron_variant BRCA-EU 10 90665254 90665254 single base substitution C G missense_variant R29G 85C>G BRCA-EU 10 90665317 90665317 single base substitution C T missense_variant R50C 148C>T BRCA-EU 10 90665637 90665637 single base substitution G T intron_variant BRCA-EU 10 90668592 90668592 single base substitution G C intron_variant BRCA-EU 10 90668592 90668592 single base substitution G C upstream_gene_variant BRCA-EU 10 90668954 90668954 single base substitution C T intron_variant BRCA-EU 10 90668954 90668954 single base substitution C T upstream_gene_variant BRCA-EU 10 90670150 90670150 single base substitution C T intron_variant BRCA-EU 10 90670150 90670150 single base substitution C T upstream_gene_variant BRCA-EU 10 90672234 90672234 deletion of <=200bp T - 5_prime_UTR_variant BRCA-EU 10 90672234 90672234 deletion of <=200bp T - intron_variant BRCA-EU 10 90672825 90672825 single base substitution C A 5_prime_UTR_variant BRCA-EU 10 90672825 90672825 single base substitution C A intron_variant BRCA-EU 10 90673341 90673341 single base substitution A G intron_variant BRCA-EU 10 90673720 90673720 single base substitution C G intron_variant BRCA-EU 10 90675471 90675471 single base substitution T C intron_variant BRCA-EU 10 90676113 90676113 single base substitution C G intron_variant BRCA-EU 10 90676195 90676195 single base substitution C T intron_variant BRCA-EU 10 90677656 90677656 single base substitution C T intron_variant BRCA-EU 10 90679906 90679906 single base substitution C T intron_variant BRCA-EU 10 90681338 90681338 single base substitution G A intron_variant BRCA-EU 10 90682641 90682641 deletion of <=200bp T - intron_variant BRCA-EU 10 90685016 90685016 single base substitution C T downstream_gene_variant BRCA-EU 10 90685016 90685016 single base substitution C T intron_variant BRCA-EU 10 90685303 90685303 single base substitution A G downstream_gene_variant BRCA-EU 10 90685303 90685303 single base substitution A G intron_variant BRCA-EU 10 90685847 90685847 insertion of <=200bp - T downstream_gene_variant BRCA-EU 10 90685847 90685847 insertion of <=200bp - T intron_variant BRCA-EU 10 90686159 90686159 single base substitution G T downstream_gene_variant BRCA-EU 10 90686159 90686159 single base substitution G T intron_variant BRCA-EU 10 90687287 90687287 single base substitution T C downstream_gene_variant BRCA-EU 10 90687287 90687287 single base substitution T C intron_variant BRCA-EU 10 90687288 90687288 single base substitution G T downstream_gene_variant BRCA-EU 10 90687288 90687288 single base substitution G T intron_variant BRCA-EU 10 90688665 90688665 single base substitution C G intron_variant BRCA-EU 10 90688822 90688826 deletion of <=200bp AGCAC - intron_variant BRCA-EU 10 90691014 90691014 single base substitution A C intron_variant BRCA-EU 10 90691355 90691355 single base substitution G A intron_variant BRCA-EU 10 90691586 90691586 single base substitution T C intron_variant BRCA-EU 10 90691588 90691588 single base substitution T C intron_variant BRCA-EU 10 90692413 90692413 single base substitution G A intron_variant BRCA-EU 10 90693309 90693309 single base substitution T C intron_variant BRCA-EU 10 90694128 90694129 deletion of <=200bp AT - intron_variant BRCA-EU 10 90694359 90694359 single base substitution T C intron_variant BRCA-EU 10 90695088 90695088 single base substitution C G intron_variant BRCA-EU 10 90696153 90696153 single base substitution C G intron_variant BRCA-EU 10 90697225 90697225 single base substitution G A intron_variant BRCA-EU 10 90697824 90697824 single base substitution C G intron_variant BRCA-EU 10 90697849 90697849 single base substitution G C intron_variant BRCA-EU 10 90699396 90699396 single base substitution C A intron_variant BRCA-EU 10 90700432 90700432 single base substitution T G intron_variant BRCA-EU 10 90700538 90700538 single base substitution C G intron_variant BRCA-EU 10 90700650 90700650 single base substitution A G intron_variant BRCA-EU 10 90700865 90700865 single base substitution G C intron_variant BRCA-EU 10 90701106 90701106 single base substitution G C intron_variant BRCA-EU 10 90701849 90701849 single base substitution G C intron_variant BRCA-EU 10 90706909 90706909 single base substitution G C intron_variant BRCA-EU 10 90707730 90707730 insertion of <=200bp - A intron_variant BRCA-EU 10 90709649 90709649 insertion of <=200bp - T intron_variant BRCA-EU 10 90709813 90709813 single base substitution G A intron_variant BRCA-EU 10 90709936 90709936 single base substitution G A intron_variant BRCA-EU 10 90711218 90711218 single base substitution G A intron_variant BRCA-EU 10 90712723 90712723 single base substitution C T intron_variant BRCA-EU 10 90713367 90713367 insertion of <=200bp - AGAG intron_variant BRCA-EU 10 90717651 90717651 single base substitution A C intron_variant BRCA-EU 10 90719067 90719067 single base substitution T A intron_variant BRCA-EU 10 90721495 90721495 single base substitution C T intron_variant BRCA-EU 10 90721884 90721884 single base substitution C G intron_variant BRCA-EU 10 90722058 90722058 single base substitution T A intron_variant BRCA-EU 10 90723712 90723712 single base substitution G A intron_variant BRCA-EU 10 90723744 90723744 single base substitution G A intron_variant BRCA-EU 10 90724432 90724432 single base substitution T A intron_variant BRCA-EU 10 90724590 90724590 single base substitution G C intron_variant BRCA-EU 10 90724864 90724879 deletion of <=200bp TTCTTAGATGCATTTT - intron_variant BRCA-EU 10 90728977 90728977 single base substitution C T intron_variant BRCA-EU 10 90729466 90729466 single base substitution C A intron_variant BRCA-EU 10 90731010 90731010 single base substitution G A intron_variant BRCA-EU 10 90731385 90731385 single base substitution A C intron_variant BRCA-EU 10 90732579 90732579 single base substitution G A intron_variant BRCA-EU 10 90733373 90733373 single base substitution C T 3_prime_UTR_variant BRCA-EU 10 90734360 90734360 single base substitution C T 3_prime_UTR_variant BRCA-EU 10 90734457 90734457 single base substitution T A 3_prime_UTR_variant BRCA-EU 10 90735390 90735390 single base substitution G A downstream_gene_variant BRCA-EU 10 90735974 90735974 single base substitution G A downstream_gene_variant BRCA-EU 10 90736159 90736159 single base substitution C G downstream_gene_variant BRCA-EU 10 90736594 90736594 single base substitution T A downstream_gene_variant BRCA-EU 10 90736639 90736639 single base substitution C G downstream_gene_variant BRCA-EU 10 90737038 90737038 single base substitution G A downstream_gene_variant BRCA-EU 10 90738802 90738802 single base substitution C T downstream_gene_variant BRCA-EU 10 90739264 90739264 single base substitution T G downstream_gene_variant BRCA-FR 10 90641159 90641159 single base substitution C T intron_variant BRCA-FR 10 90641159 90641159 single base substitution C T upstream_gene_variant BRCA-FR 10 90648561 90648561 single base substitution C T intron_variant BRCA-FR 10 90654585 90654585 single base substitution C A downstream_gene_variant BRCA-FR 10 90654585 90654585 single base substitution C A intron_variant BRCA-FR 10 90661662 90661662 single base substitution C G intron_variant BRCA-FR 10 90663397 90663397 single base substitution C G intron_variant BRCA-FR 10 90665067 90665067 single base substitution C T intron_variant BRCA-FR 10 90673720 90673720 single base substitution C G intron_variant BRCA-FR 10 90676125 90676125 single base substitution A G intron_variant BRCA-FR 10 90681338 90681338 single base substitution G A intron_variant BRCA-FR 10 90693309 90693309 single base substitution T C intron_variant BRCA-FR 10 90696153 90696153 single base substitution C G intron_variant BRCA-FR 10 90700650 90700650 single base substitution A G intron_variant BRCA-FR 10 90706489 90706489 single base substitution C T intron_variant BRCA-FR 10 90714375 90714375 single base substitution G T intron_variant BRCA-FR 10 90724590 90724590 single base substitution G C intron_variant BRCA-FR 10 90731010 90731010 single base substitution G A intron_variant BRCA-FR 10 90735390 90735390 single base substitution G A downstream_gene_variant BRCA-FR 10 90739264 90739264 single base substitution T G downstream_gene_variant BRCA-UK 10 90635187 90635187 single base substitution C G upstream_gene_variant BRCA-UK 10 90637378 90637378 single base substitution C G upstream_gene_variant BRCA-UK 10 90639756 90639756 single base substitution G A 5_prime_UTR_variant BRCA-UK 10 90639756 90639756 single base substitution G A upstream_gene_variant BRCA-UK 10 90654474 90654474 single base substitution G A downstream_gene_variant BRCA-UK 10 90654474 90654474 single base substitution G A intron_variant BRCA-UK 10 90665254 90665254 single base substitution C G missense_variant R29G 85C>G BRCA-UK 10 90673341 90673341 single base substitution A G intron_variant BRCA-UK 10 90692269 90692269 single base substitution G C intron_variant BRCA-UK 10 90701106 90701106 single base substitution G C intron_variant BRCA-UK 10 90703556 90703556 single base substitution G C intron_variant BRCA-US 10 90661472 90661472 single base substitution C A missense_variant Q3K 7C>A BRCA-US 10 90672857 90672857 single base substitution G T 5_prime_UTR_variant BRCA-US 10 90672857 90672857 single base substitution G T splice_acceptor_variant BRCA-US 10 90700995 90700995 single base substitution C T intron_variant BRCA-US 10 90701048 90701048 single base substitution C T intron_variant BRCA-US 10 90706831 90706831 single base substitution T C intron_variant BRCA-US 10 90708572 90708572 single base substitution C T intron_variant BTCA-JP 10 90672898 90672898 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 10 90672898 90672898 single base substitution A T missense_variant Q154L 461A>T BTCA-JP 10 90674453 90674453 single base substitution C A intron_variant BTCA-JP 10 90680952 90680952 deletion of <=200bp A - intron_variant BTCA-JP 10 90682146 90682146 deletion of <=200bp A - frameshift_variant K237 BTCA-JP 10 90682146 90682146 deletion of <=200bp A - frameshift_variant K403 BTCA-JP 10 90682241 90682241 deletion of <=200bp C - intron_variant BTCA-JP 10 90682275 90682275 single base substitution T C intron_variant BTCA-JP 10 90697772 90697772 single base substitution T G intron_variant BTCA-JP 10 90701067 90701067 single base substitution G A intron_variant CESC-US 10 90668531 90668531 single base substitution G C missense_variant M107I 321G>C CESC-US 10 90668531 90668531 single base substitution G C upstream_gene_variant CESC-US 10 90673020 90673020 single base substitution C T stop_gained R195* 583C>T CESC-US 10 90673020 90673020 single base substitution C T stop_gained R29* 85C>T CESC-US 10 90733048 90733048 single base substitution C T missense_variant S455L 1364C>T CESC-US 10 90733069 90733069 single base substitution G C stop_lost *462S 1385G>C CLLE-ES 10 90635241 90635241 single base substitution A C upstream_gene_variant CLLE-ES 10 90677612 90677612 single base substitution T C intron_variant CLLE-ES 10 90689764 90689764 single base substitution A T intron_variant CLLE-ES 10 90703251 90703251 single base substitution A G intron_variant CLLE-ES 10 90705305 90705305 single base substitution T C intron_variant COAD-US 10 90674328 90674330 deletion of <=200bp AGA - inframe_deletion PE106P COAD-US 10 90674328 90674330 deletion of <=200bp AGA - inframe_deletion PE272P COAD-US 10 90676554 90676554 single base substitution C A missense_variant L175I 523C>A COAD-US 10 90676554 90676554 single base substitution C A missense_variant L341I 1021C>A COAD-US 10 90682146 90682146 deletion of <=200bp A - frameshift_variant K237 COAD-US 10 90682146 90682146 deletion of <=200bp A - frameshift_variant K403 COAD-US 10 90682955 90682955 single base substitution A C intron_variant COAD-US 10 90682955 90682955 single base substitution A C missense_variant K263Q 787A>C COAD-US 10 90682955 90682955 single base substitution A C missense_variant K429Q 1285A>C COAD-US 10 90701610 90701610 single base substitution A G intron_variant COCA-CN 10 90642922 90642922 single base substitution C T downstream_gene_variant COCA-CN 10 90642922 90642922 single base substitution C T intron_variant COCA-CN 10 90643114 90643114 single base substitution T C downstream_gene_variant COCA-CN 10 90643114 90643114 single base substitution T C intron_variant COCA-CN 10 90652114 90652114 single base substitution T C intron_variant COCA-CN 10 90653091 90653091 single base substitution C A intron_variant COCA-CN 10 90661602 90661602 single base substitution T A intron_variant COCA-CN 10 90665139 90665139 single base substitution A G intron_variant COCA-CN 10 90665148 90665148 single base substitution C A intron_variant COCA-CN 10 90674213 90674213 single base substitution A G intron_variant COCA-CN 10 90674251 90674251 single base substitution A C intron_variant COCA-CN 10 90683112 90683112 single base substitution A G 3_prime_UTR_variant COCA-CN 10 90683112 90683112 single base substitution A G intron_variant COCA-CN 10 90698605 90698605 single base substitution C T intron_variant COCA-CN 10 90701234 90701234 single base substitution G T intron_variant COCA-CN 10 90707198 90707198 single base substitution T G intron_variant ESAD-UK 10 90635320 90635320 single base substitution C T upstream_gene_variant ESAD-UK 10 90635615 90635615 single base substitution A G upstream_gene_variant ESAD-UK 10 90638281 90638281 single base substitution C T upstream_gene_variant ESAD-UK 10 90640726 90640726 insertion of <=200bp - T intron_variant ESAD-UK 10 90640726 90640726 insertion of <=200bp - T upstream_gene_variant ESAD-UK 10 90643147 90643147 single base substitution A T downstream_gene_variant ESAD-UK 10 90643147 90643147 single base substitution A T intron_variant ESAD-UK 10 90643895 90643895 insertion of <=200bp - A downstream_gene_variant ESAD-UK 10 90643895 90643895 insertion of <=200bp - A intron_variant ESAD-UK 10 90647153 90647153 single base substitution G A downstream_gene_variant ESAD-UK 10 90647153 90647153 single base substitution G A intron_variant ESAD-UK 10 90649032 90649032 single base substitution C T intron_variant ESAD-UK 10 90649629 90649629 single base substitution C T intron_variant ESAD-UK 10 90651818 90651818 single base substitution G T intron_variant ESAD-UK 10 90653119 90653119 single base substitution C G intron_variant ESAD-UK 10 90654055 90654055 single base substitution A T downstream_gene_variant ESAD-UK 10 90654055 90654055 single base substitution A T intron_variant ESAD-UK 10 90654365 90654365 single base substitution T G downstream_gene_variant ESAD-UK 10 90654365 90654365 single base substitution T G intron_variant ESAD-UK 10 90655583 90655583 single base substitution G A downstream_gene_variant ESAD-UK 10 90655583 90655583 single base substitution G A intron_variant ESAD-UK 10 90655856 90655856 single base substitution G A downstream_gene_variant ESAD-UK 10 90655856 90655856 single base substitution G A intron_variant ESAD-UK 10 90655856 90655856 single base substitution G A upstream_gene_variant ESAD-UK 10 90658302 90658302 single base substitution G A downstream_gene_variant ESAD-UK 10 90658302 90658302 single base substitution G A intron_variant ESAD-UK 10 90658302 90658302 single base substitution G A upstream_gene_variant ESAD-UK 10 90658668 90658668 single base substitution C T downstream_gene_variant ESAD-UK 10 90658668 90658668 single base substitution C T intron_variant ESAD-UK 10 90658668 90658668 single base substitution C T upstream_gene_variant ESAD-UK 10 90662137 90662137 single base substitution T C intron_variant ESAD-UK 10 90663736 90663736 single base substitution T C intron_variant ESAD-UK 10 90663984 90663984 single base substitution G A intron_variant ESAD-UK 10 90664537 90664537 single base substitution A G intron_variant ESAD-UK 10 90665568 90665568 single base substitution C T intron_variant ESAD-UK 10 90666264 90666264 single base substitution C A intron_variant ESAD-UK 10 90666448 90666448 single base substitution C T intron_variant ESAD-UK 10 90666484 90666484 single base substitution C T intron_variant ESAD-UK 10 90668712 90668712 insertion of <=200bp - TG intron_variant ESAD-UK 10 90668712 90668712 insertion of <=200bp - TG upstream_gene_variant ESAD-UK 10 90668712 90668712 single base substitution A T intron_variant ESAD-UK 10 90668712 90668712 single base substitution A T upstream_gene_variant ESAD-UK 10 90669428 90669428 single base substitution G A intron_variant ESAD-UK 10 90669428 90669428 single base substitution G A upstream_gene_variant ESAD-UK 10 90671015 90671015 single base substitution C T intron_variant ESAD-UK 10 90671015 90671015 single base substitution C T upstream_gene_variant ESAD-UK 10 90672575 90672575 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 10 90672575 90672575 single base substitution C T intron_variant ESAD-UK 10 90674001 90674001 single base substitution G C intron_variant ESAD-UK 10 90676708 90676708 single base substitution A C intron_variant ESAD-UK 10 90678367 90678367 single base substitution C T intron_variant ESAD-UK 10 90678554 90678554 single base substitution C G intron_variant ESAD-UK 10 90678768 90678768 single base substitution A T intron_variant ESAD-UK 10 90682585 90682585 single base substitution A G intron_variant ESAD-UK 10 90684676 90684676 single base substitution C T downstream_gene_variant ESAD-UK 10 90684676 90684676 single base substitution C T intron_variant ESAD-UK 10 90689382 90689382 single base substitution G A intron_variant ESAD-UK 10 90692403 90692403 single base substitution G A intron_variant ESAD-UK 10 90694394 90694394 insertion of <=200bp - AT intron_variant ESAD-UK 10 90697825 90697825 single base substitution T G intron_variant ESAD-UK 10 90701220 90701220 single base substitution A C intron_variant ESAD-UK 10 90704723 90704723 single base substitution T C intron_variant ESAD-UK 10 90707107 90707107 single base substitution C T intron_variant ESAD-UK 10 90708627 90708627 deletion of <=200bp C - intron_variant ESAD-UK 10 90713415 90713415 single base substitution G A intron_variant ESAD-UK 10 90715149 90715149 single base substitution A G intron_variant ESAD-UK 10 90718802 90718802 single base substitution G A intron_variant ESAD-UK 10 90719104 90719104 single base substitution C T intron_variant ESAD-UK 10 90723380 90723380 single base substitution T C intron_variant ESAD-UK 10 90724026 90724026 single base substitution T G intron_variant ESAD-UK 10 90725105 90725105 single base substitution A C intron_variant ESAD-UK 10 90725570 90725570 single base substitution G A intron_variant ESAD-UK 10 90728334 90728334 single base substitution A T intron_variant ESAD-UK 10 90730464 90730464 single base substitution C T intron_variant ESAD-UK 10 90730694 90730694 single base substitution C A intron_variant ESAD-UK 10 90733157 90733157 single base substitution C T 3_prime_UTR_variant ESAD-UK 10 90733764 90733764 single base substitution G T 3_prime_UTR_variant ESAD-UK 10 90734400 90734400 single base substitution T C 3_prime_UTR_variant ESAD-UK 10 90736320 90736320 single base substitution A C downstream_gene_variant ESAD-UK 10 90739368 90739368 deletion of <=200bp A - downstream_gene_variant ESAD-UK 10 90739368 90739368 single base substitution A C downstream_gene_variant ESAD-UK 10 90739370 90739370 single base substitution T C downstream_gene_variant ESCA-CN 10 90672905 90672905 single base substitution G C 5_prime_UTR_variant ESCA-CN 10 90672905 90672905 single base substitution G C missense_variant L156F 468G>C ESCA-CN 10 90674398 90674398 single base substitution A G missense_variant I130V 388A>G ESCA-CN 10 90674398 90674398 single base substitution A G missense_variant I296V 886A>G GBM-US 10 90674395 90674395 single base substitution G T stop_gained G129* 385G>T GBM-US 10 90674395 90674395 single base substitution G T stop_gained G295* 883G>T GBM-US 10 90699345 90699345 single base substitution C T intron_variant GBM-US 10 90707027 90707027 single base substitution G A intron_variant KIRC-US 10 90682964 90682964 single base substitution G T intron_variant KIRC-US 10 90682964 90682964 single base substitution G T missense_variant V266L 796G>T KIRC-US 10 90682964 90682964 single base substitution G T missense_variant V432L 1294G>T LAML-KR 10 90693215 90693215 single base substitution C T intron_variant LAML-KR 10 90695265 90695265 single base substitution G T intron_variant LGG-US 10 90708581 90708581 single base substitution A G intron_variant LICA-FR 10 90639809 90639809 single base substitution A G 5_prime_UTR_variant LICA-FR 10 90639809 90639809 single base substitution A G upstream_gene_variant LICA-FR 10 90665347 90665347 single base substitution A T missense_variant R60W 178A>T LICA-FR 10 90678066 90678066 insertion of <=200bp - ACACAT intron_variant LICA-FR 10 90681594 90681594 single base substitution G T intron_variant LICA-FR 10 90682971 90682971 single base substitution A G intron_variant LICA-FR 10 90682971 90682971 single base substitution A G missense_variant D268G 803A>G LICA-FR 10 90682971 90682971 single base substitution A G missense_variant D434G 1301A>G LIHM-FR 10 90708681 90708681 single base substitution C T intron_variant LINC-JP 10 90644012 90644012 single base substitution C T downstream_gene_variant LINC-JP 10 90644012 90644012 single base substitution C T intron_variant LINC-JP 10 90649128 90649128 single base substitution T C intron_variant LINC-JP 10 90651268 90651268 single base substitution A G intron_variant LINC-JP 10 90655261 90655261 single base substitution A G downstream_gene_variant LINC-JP 10 90655261 90655261 single base substitution A G intron_variant LINC-JP 10 90662218 90662218 single base substitution G C intron_variant LINC-JP 10 90669601 90669601 single base substitution A C intron_variant LINC-JP 10 90669601 90669601 single base substitution A C upstream_gene_variant LINC-JP 10 90680952 90680952 insertion of <=200bp - A intron_variant LINC-JP 10 90681128 90681128 single base substitution T C missense_variant I211T 632T>C LINC-JP 10 90681128 90681128 single base substitution T C missense_variant I377T 1130T>C LINC-JP 10 90722021 90722021 single base substitution A G intron_variant LINC-JP 10 90729334 90729334 deletion of <=200bp T - intron_variant LINC-JP 10 90734689 90734689 single base substitution C G 3_prime_UTR_variant LIRI-JP 10 90635753 90635753 single base substitution A G upstream_gene_variant LIRI-JP 10 90635962 90635962 single base substitution T A upstream_gene_variant LIRI-JP 10 90639651 90639651 single base substitution C T 5_prime_UTR_variant LIRI-JP 10 90639651 90639651 single base substitution C T upstream_gene_variant LIRI-JP 10 90643799 90643799 single base substitution G T downstream_gene_variant LIRI-JP 10 90643799 90643799 single base substitution G T intron_variant LIRI-JP 10 90644118 90644118 single base substitution G A downstream_gene_variant LIRI-JP 10 90644118 90644118 single base substitution G A intron_variant LIRI-JP 10 90651305 90651305 single base substitution A G intron_variant LIRI-JP 10 90653244 90653244 single base substitution A T intron_variant LIRI-JP 10 90660450 90660450 single base substitution A G intron_variant LIRI-JP 10 90660450 90660450 single base substitution A G upstream_gene_variant LIRI-JP 10 90664206 90664206 single base substitution A G intron_variant LIRI-JP 10 90664638 90664638 single base substitution G C intron_variant LIRI-JP 10 90669229 90669229 single base substitution C T intron_variant LIRI-JP 10 90669229 90669229 single base substitution C T upstream_gene_variant LIRI-JP 10 90669845 90669845 single base substitution A G intron_variant LIRI-JP 10 90669845 90669845 single base substitution A G upstream_gene_variant LIRI-JP 10 90671070 90671070 single base substitution G A intron_variant LIRI-JP 10 90671070 90671070 single base substitution G A upstream_gene_variant LIRI-JP 10 90673168 90673168 single base substitution C A missense_variant P244H 731C>A LIRI-JP 10 90673168 90673168 single base substitution C A missense_variant P78H 233C>A LIRI-JP 10 90679012 90679012 single base substitution A G intron_variant LIRI-JP 10 90682146 90682146 deletion of <=200bp A - frameshift_variant K237 LIRI-JP 10 90682146 90682146 deletion of <=200bp A - frameshift_variant K403 LIRI-JP 10 90683048 90683048 single base substitution C T 3_prime_UTR_variant LIRI-JP 10 90683048 90683048 single base substitution C T intron_variant LIRI-JP 10 90686059 90686059 single base substitution C G downstream_gene_variant LIRI-JP 10 90686059 90686059 single base substitution C G intron_variant LIRI-JP 10 90686301 90686301 single base substitution G A downstream_gene_variant LIRI-JP 10 90686301 90686301 single base substitution G A intron_variant LIRI-JP 10 90686740 90686740 single base substitution C T downstream_gene_variant LIRI-JP 10 90686740 90686740 single base substitution C T intron_variant LIRI-JP 10 90691952 90691952 single base substitution C T intron_variant LIRI-JP 10 90696931 90696931 single base substitution C A intron_variant LIRI-JP 10 90697018 90697018 single base substitution T C intron_variant LIRI-JP 10 90698602 90698602 single base substitution T G intron_variant LIRI-JP 10 90699517 90699517 single base substitution C T intron_variant LIRI-JP 10 90701431 90701431 single base substitution C T intron_variant LIRI-JP 10 90708151 90708151 single base substitution G T intron_variant LIRI-JP 10 90709631 90709631 single base substitution T C intron_variant LIRI-JP 10 90717826 90717826 single base substitution C A intron_variant LIRI-JP 10 90718427 90718427 single base substitution C G intron_variant LIRI-JP 10 90723718 90723718 single base substitution T C intron_variant LIRI-JP 10 90735062 90735062 single base substitution G A downstream_gene_variant LIRI-JP 10 90735766 90735766 single base substitution A C downstream_gene_variant LIRI-JP 10 90739368 90739368 deletion of <=200bp A - downstream_gene_variant LIRI-JP 10 90739603 90739603 single base substitution C T downstream_gene_variant LUSC-KR 10 90638092 90638092 single base substitution G T upstream_gene_variant LUSC-KR 10 90639990 90639990 single base substitution G T 5_prime_UTR_variant LUSC-KR 10 90639990 90639990 single base substitution G T exon_variant LUSC-KR 10 90639990 90639990 single base substitution G T upstream_gene_variant LUSC-KR 10 90642740 90642740 single base substitution A G downstream_gene_variant LUSC-KR 10 90642740 90642740 single base substitution A G intron_variant LUSC-KR 10 90643285 90643285 single base substitution G T downstream_gene_variant LUSC-KR 10 90643285 90643285 single base substitution G T intron_variant LUSC-KR 10 90658928 90658928 single base substitution C T intron_variant LUSC-KR 10 90658928 90658928 single base substitution C T upstream_gene_variant LUSC-KR 10 90677210 90677210 single base substitution A T intron_variant LUSC-KR 10 90682069 90682069 single base substitution A G intron_variant LUSC-KR 10 90687562 90687562 single base substitution C T downstream_gene_variant LUSC-KR 10 90687562 90687562 single base substitution C T intron_variant LUSC-KR 10 90690783 90690783 single base substitution G T intron_variant LUSC-KR 10 90703167 90703167 single base substitution G A intron_variant LUSC-KR 10 90707000 90707000 single base substitution G C intron_variant LUSC-KR 10 90707204 90707204 single base substitution C A intron_variant LUSC-KR 10 90709827 90709827 single base substitution A G intron_variant LUSC-KR 10 90712633 90712633 single base substitution C G intron_variant LUSC-KR 10 90716602 90716602 single base substitution C A intron_variant LUSC-KR 10 90726346 90726346 single base substitution C T intron_variant LUSC-KR 10 90728282 90728282 single base substitution T G intron_variant LUSC-KR 10 90737094 90737094 single base substitution T A downstream_gene_variant LUSC-KR 10 90737162 90737162 single base substitution A G downstream_gene_variant LUSC-KR 10 90737346 90737346 single base substitution G T downstream_gene_variant LUSC-KR 10 90737404 90737404 single base substitution A C downstream_gene_variant LUSC-KR 10 90737489 90737489 single base substitution T G downstream_gene_variant LUSC-KR 10 90737490 90737490 single base substitution A C downstream_gene_variant LUSC-KR 10 90737810 90737810 single base substitution G A downstream_gene_variant LUSC-KR 10 90737861 90737861 single base substitution A G downstream_gene_variant LUSC-KR 10 90737926 90737926 single base substitution T C downstream_gene_variant LUSC-KR 10 90738062 90738062 single base substitution C T downstream_gene_variant LUSC-KR 10 90738065 90738065 single base substitution G C downstream_gene_variant MALY-DE 10 90640186 90640186 single base substitution G A 5_prime_UTR_variant MALY-DE 10 90640186 90640186 single base substitution G A exon_variant MALY-DE 10 90640186 90640186 single base substitution G A upstream_gene_variant MALY-DE 10 90640861 90640861 single base substitution G C intron_variant MALY-DE 10 90640861 90640861 single base substitution G C upstream_gene_variant MALY-DE 10 90647823 90647823 single base substitution T C intron_variant MALY-DE 10 90648300 90648300 single base substitution T C intron_variant MALY-DE 10 90652111 90652112 deletion of <=200bp GT - intron_variant MALY-DE 10 90658376 90658376 single base substitution A G downstream_gene_variant MALY-DE 10 90658376 90658376 single base substitution A G intron_variant MALY-DE 10 90658376 90658376 single base substitution A G upstream_gene_variant MALY-DE 10 90664719 90664719 single base substitution A C intron_variant MALY-DE 10 90665350 90665350 single base substitution A C missense_variant M61L 181A>C MALY-DE 10 90666764 90666764 single base substitution C G intron_variant MALY-DE 10 90666986 90666986 single base substitution A G intron_variant MALY-DE 10 90677820 90677820 single base substitution T A intron_variant MALY-DE 10 90688268 90688268 insertion of <=200bp - T intron_variant MALY-DE 10 90694858 90694858 single base substitution A T intron_variant MALY-DE 10 90709592 90709592 single base substitution T G intron_variant MALY-DE 10 90711257 90711257 insertion of <=200bp - A intron_variant MALY-DE 10 90730294 90730296 deletion of <=200bp GAA - intron_variant MALY-DE 10 90730936 90730936 single base substitution A G intron_variant MALY-DE 10 90733975 90733975 single base substitution G A 3_prime_UTR_variant MELA-AU 10 90634817 90634817 single base substitution C T upstream_gene_variant MELA-AU 10 90634957 90634957 single base substitution C T upstream_gene_variant MELA-AU 10 90635449 90635449 single base substitution T A upstream_gene_variant MELA-AU 10 90635480 90635480 single base substitution C T upstream_gene_variant MELA-AU 10 90635819 90635819 single base substitution C T upstream_gene_variant MELA-AU 10 90635937 90635937 single base substitution G A upstream_gene_variant MELA-AU 10 90635943 90635943 single base substitution G A upstream_gene_variant MELA-AU 10 90636457 90636457 single base substitution G A upstream_gene_variant MELA-AU 10 90637020 90637020 single base substitution G A upstream_gene_variant MELA-AU 10 90637081 90637081 single base substitution G A upstream_gene_variant MELA-AU 10 90637714 90637714 single base substitution C T upstream_gene_variant MELA-AU 10 90638109 90638109 single base substitution C T upstream_gene_variant MELA-AU 10 90638349 90638349 single base substitution G A upstream_gene_variant MELA-AU 10 90638394 90638394 single base substitution C G upstream_gene_variant MELA-AU 10 90638833 90638833 single base substitution G A upstream_gene_variant MELA-AU 10 90642872 90642872 single base substitution T C downstream_gene_variant MELA-AU 10 90642872 90642872 single base substitution T C intron_variant MELA-AU 10 90645286 90645286 single base substitution C T downstream_gene_variant MELA-AU 10 90645286 90645286 single base substitution C T intron_variant MELA-AU 10 90645384 90645384 single base substitution C T downstream_gene_variant MELA-AU 10 90645384 90645384 single base substitution C T intron_variant MELA-AU 10 90646046 90646046 single base substitution C T downstream_gene_variant MELA-AU 10 90646046 90646046 single base substitution C T intron_variant MELA-AU 10 90646665 90646665 single base substitution C T downstream_gene_variant MELA-AU 10 90646665 90646665 single base substitution C T intron_variant MELA-AU 10 90646866 90646866 single base substitution A G downstream_gene_variant MELA-AU 10 90646866 90646866 single base substitution A G intron_variant MELA-AU 10 90647032 90647032 single base substitution C T downstream_gene_variant MELA-AU 10 90647032 90647032 single base substitution C T intron_variant MELA-AU 10 90647585 90647585 single base substitution C T downstream_gene_variant MELA-AU 10 90647585 90647585 single base substitution C T intron_variant MELA-AU 10 90647686 90647686 single base substitution C T intron_variant MELA-AU 10 90648324 90648324 single base substitution C T intron_variant MELA-AU 10 90649148 90649148 single base substitution C T intron_variant MELA-AU 10 90649364 90649364 single base substitution A T intron_variant MELA-AU 10 90649575 90649575 single base substitution C T intron_variant MELA-AU 10 90651089 90651089 single base substitution C T intron_variant MELA-AU 10 90651212 90651212 single base substitution C A intron_variant MELA-AU 10 90651429 90651429 single base substitution C T intron_variant MELA-AU 10 90651458 90651458 single base substitution C T intron_variant MELA-AU 10 90651549 90651549 single base substitution C T intron_variant MELA-AU 10 90655048 90655048 single base substitution G A downstream_gene_variant MELA-AU 10 90655048 90655048 single base substitution G A intron_variant MELA-AU 10 90655246 90655246 single base substitution C T downstream_gene_variant MELA-AU 10 90655246 90655246 single base substitution C T intron_variant MELA-AU 10 90655474 90655474 single base substitution C T downstream_gene_variant MELA-AU 10 90655474 90655474 single base substitution C T intron_variant MELA-AU 10 90655935 90655935 single base substitution T G downstream_gene_variant MELA-AU 10 90655935 90655935 single base substitution T G intron_variant MELA-AU 10 90655935 90655935 single base substitution T G upstream_gene_variant MELA-AU 10 90656126 90656126 single base substitution C T downstream_gene_variant MELA-AU 10 90656126 90656126 single base substitution C T intron_variant MELA-AU 10 90656126 90656126 single base substitution C T upstream_gene_variant MELA-AU 10 90656486 90656486 single base substitution C T downstream_gene_variant MELA-AU 10 90656486 90656486 single base substitution C T intron_variant MELA-AU 10 90656486 90656486 single base substitution C T upstream_gene_variant MELA-AU 10 90656502 90656502 single base substitution C T downstream_gene_variant MELA-AU 10 90656502 90656502 single base substitution C T intron_variant MELA-AU 10 90656502 90656502 single base substitution C T upstream_gene_variant MELA-AU 10 90656898 90656898 single base substitution A G downstream_gene_variant MELA-AU 10 90656898 90656898 single base substitution A G intron_variant MELA-AU 10 90656898 90656898 single base substitution A G upstream_gene_variant MELA-AU 10 90657103 90657103 single base substitution G A downstream_gene_variant MELA-AU 10 90657103 90657103 single base substitution G A intron_variant MELA-AU 10 90657103 90657103 single base substitution G A upstream_gene_variant MELA-AU 10 90657443 90657443 single base substitution A T downstream_gene_variant MELA-AU 10 90657443 90657443 single base substitution A T intron_variant MELA-AU 10 90657443 90657443 single base substitution A T upstream_gene_variant MELA-AU 10 90658510 90658510 single base substitution T A downstream_gene_variant MELA-AU 10 90658510 90658510 single base substitution T A intron_variant MELA-AU 10 90658510 90658510 single base substitution T A upstream_gene_variant MELA-AU 10 90659377 90659377 single base substitution C T intron_variant MELA-AU 10 90659377 90659377 single base substitution C T upstream_gene_variant MELA-AU 10 90659705 90659705 single base substitution C T intron_variant MELA-AU 10 90659705 90659705 single base substitution C T upstream_gene_variant MELA-AU 10 90661024 90661024 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 10 90661024 90661024 single base substitution T C intron_variant MELA-AU 10 90661664 90661664 single base substitution T C intron_variant MELA-AU 10 90661745 90661745 single base substitution C T intron_variant MELA-AU 10 90661954 90661954 single base substitution C T intron_variant MELA-AU 10 90662168 90662168 single base substitution C T intron_variant MELA-AU 10 90662583 90662583 single base substitution C T intron_variant MELA-AU 10 90663792 90663792 single base substitution C T intron_variant MELA-AU 10 90664398 90664398 single base substitution C T intron_variant MELA-AU 10 90664598 90664598 single base substitution T C intron_variant MELA-AU 10 90665219 90665219 single base substitution C T missense_variant P17L 50C>T MELA-AU 10 90665351 90665351 single base substitution T G missense_variant M61R 182T>G MELA-AU 10 90665439 90665439 single base substitution G A intron_variant MELA-AU 10 90665497 90665497 single base substitution C T intron_variant MELA-AU 10 90665869 90665869 single base substitution G A intron_variant MELA-AU 10 90666603 90666603 single base substitution C T intron_variant MELA-AU 10 90666835 90666835 single base substitution T C intron_variant MELA-AU 10 90667821 90667821 single base substitution C T intron_variant MELA-AU 10 90667821 90667821 single base substitution C T upstream_gene_variant MELA-AU 10 90667889 90667889 single base substitution C T intron_variant MELA-AU 10 90667889 90667889 single base substitution C T upstream_gene_variant MELA-AU 10 90667951 90667951 single base substitution G A intron_variant MELA-AU 10 90667951 90667951 single base substitution G A upstream_gene_variant MELA-AU 10 90668760 90668760 single base substitution C T intron_variant MELA-AU 10 90668760 90668760 single base substitution C T upstream_gene_variant MELA-AU 10 90669817 90669817 single base substitution G A intron_variant MELA-AU 10 90669817 90669817 single base substitution G A upstream_gene_variant MELA-AU 10 90670089 90670089 single base substitution A G intron_variant MELA-AU 10 90670089 90670089 single base substitution A G upstream_gene_variant MELA-AU 10 90670641 90670641 single base substitution C T intron_variant MELA-AU 10 90670641 90670641 single base substitution C T upstream_gene_variant MELA-AU 10 90670966 90670966 single base substitution C T intron_variant MELA-AU 10 90670966 90670966 single base substitution C T upstream_gene_variant MELA-AU 10 90671404 90671404 single base substitution T C intron_variant MELA-AU 10 90671404 90671404 single base substitution T C upstream_gene_variant MELA-AU 10 90671425 90671425 single base substitution G A intron_variant MELA-AU 10 90671425 90671425 single base substitution G A upstream_gene_variant MELA-AU 10 90671691 90671691 single base substitution C T intron_variant MELA-AU 10 90671691 90671691 single base substitution C T upstream_gene_variant MELA-AU 10 90671858 90671858 single base substitution G T intron_variant MELA-AU 10 90671858 90671858 single base substitution G T upstream_gene_variant MELA-AU 10 90672037 90672037 single base substitution C T intron_variant MELA-AU 10 90672037 90672037 single base substitution C T upstream_gene_variant MELA-AU 10 90672079 90672079 single base substitution T C intron_variant MELA-AU 10 90672079 90672079 single base substitution T C upstream_gene_variant MELA-AU 10 90672933 90672933 single base substitution C T 5_prime_UTR_variant MELA-AU 10 90672933 90672933 single base substitution C T stop_gained Q166* 496C>T MELA-AU 10 90673122 90673122 single base substitution C T stop_gained Q229* 685C>T MELA-AU 10 90673122 90673122 single base substitution C T stop_gained Q63* 187C>T MELA-AU 10 90673773 90673773 single base substitution C T intron_variant MELA-AU 10 90673814 90673814 single base substitution A T intron_variant MELA-AU 10 90674785 90674785 single base substitution C T intron_variant MELA-AU 10 90674857 90674857 single base substitution C T intron_variant MELA-AU 10 90676669 90676669 single base substitution C T intron_variant MELA-AU 10 90676728 90676728 single base substitution G A intron_variant MELA-AU 10 90676785 90676785 single base substitution C T intron_variant MELA-AU 10 90678071 90678071 single base substitution C T intron_variant MELA-AU 10 90679049 90679049 single base substitution C T intron_variant MELA-AU 10 90679468 90679468 single base substitution C T intron_variant MELA-AU 10 90679515 90679515 single base substitution C T intron_variant MELA-AU 10 90679658 90679658 single base substitution T A intron_variant MELA-AU 10 90679849 90679849 single base substitution C T intron_variant MELA-AU 10 90680118 90680118 single base substitution C T intron_variant MELA-AU 10 90680329 90680329 single base substitution A T intron_variant MELA-AU 10 90680789 90680789 single base substitution C T intron_variant MELA-AU 10 90681416 90681416 single base substitution T A intron_variant MELA-AU 10 90682190 90682190 single base substitution C T synonymous_variant F251F 753C>T MELA-AU 10 90682190 90682190 single base substitution C T synonymous_variant F417F 1251C>T MELA-AU 10 90682221 90682221 single base substitution C T intron_variant MELA-AU 10 90682649 90682649 single base substitution T C intron_variant MELA-AU 10 90683395 90683395 single base substitution C T downstream_gene_variant MELA-AU 10 90683395 90683395 single base substitution C T intron_variant MELA-AU 10 90684140 90684140 single base substitution C T downstream_gene_variant MELA-AU 10 90684140 90684140 single base substitution C T intron_variant MELA-AU 10 90684160 90684161 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 10 90684160 90684161 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 10 90684623 90684623 single base substitution C T downstream_gene_variant MELA-AU 10 90684623 90684623 single base substitution C T intron_variant MELA-AU 10 90685498 90685498 single base substitution G T downstream_gene_variant MELA-AU 10 90685498 90685498 single base substitution G T intron_variant MELA-AU 10 90685627 90685627 single base substitution C T downstream_gene_variant MELA-AU 10 90685627 90685627 single base substitution C T intron_variant MELA-AU 10 90686035 90686035 single base substitution T G downstream_gene_variant MELA-AU 10 90686035 90686035 single base substitution T G intron_variant MELA-AU 10 90686821 90686821 single base substitution C T downstream_gene_variant MELA-AU 10 90686821 90686821 single base substitution C T intron_variant MELA-AU 10 90687288 90687288 single base substitution G A downstream_gene_variant MELA-AU 10 90687288 90687288 single base substitution G A intron_variant MELA-AU 10 90687439 90687439 single base substitution G A downstream_gene_variant MELA-AU 10 90687439 90687439 single base substitution G A intron_variant MELA-AU 10 90687959 90687959 single base substitution C T downstream_gene_variant MELA-AU 10 90687959 90687959 single base substitution C T intron_variant MELA-AU 10 90689172 90689172 single base substitution C T intron_variant MELA-AU 10 90689616 90689616 single base substitution C T intron_variant MELA-AU 10 90689623 90689623 single base substitution G A intron_variant MELA-AU 10 90691172 90691172 single base substitution C T intron_variant MELA-AU 10 90691508 90691508 single base substitution C T intron_variant MELA-AU 10 90691753 90691753 single base substitution C T intron_variant MELA-AU 10 90691807 90691807 single base substitution T C intron_variant MELA-AU 10 90692002 90692002 single base substitution A G intron_variant MELA-AU 10 90692758 90692758 single base substitution C A intron_variant MELA-AU 10 90693119 90693119 single base substitution G C intron_variant MELA-AU 10 90693239 90693239 single base substitution C T intron_variant MELA-AU 10 90693264 90693264 single base substitution G A intron_variant MELA-AU 10 90693983 90693983 single base substitution T A intron_variant MELA-AU 10 90693999 90693999 single base substitution C T intron_variant MELA-AU 10 90694616 90694616 single base substitution A T intron_variant MELA-AU 10 90696142 90696142 single base substitution C T intron_variant MELA-AU 10 90697085 90697085 single base substitution C T intron_variant MELA-AU 10 90697225 90697225 single base substitution G A intron_variant MELA-AU 10 90697953 90697953 single base substitution C T intron_variant MELA-AU 10 90697976 90697976 single base substitution C T intron_variant MELA-AU 10 90698234 90698234 single base substitution G A intron_variant MELA-AU 10 90698357 90698357 single base substitution C T intron_variant MELA-AU 10 90699620 90699620 single base substitution C T intron_variant MELA-AU 10 90700168 90700168 single base substitution T G intron_variant MELA-AU 10 90700387 90700387 single base substitution G A intron_variant MELA-AU 10 90700642 90700642 single base substitution C T intron_variant MELA-AU 10 90700904 90700904 single base substitution C T intron_variant MELA-AU 10 90701148 90701148 single base substitution C T intron_variant MELA-AU 10 90701598 90701598 single base substitution G A intron_variant MELA-AU 10 90701875 90701875 single base substitution C T intron_variant MELA-AU 10 90703376 90703376 single base substitution G A intron_variant MELA-AU 10 90703512 90703512 single base substitution C T intron_variant MELA-AU 10 90704025 90704025 single base substitution T A intron_variant MELA-AU 10 90704915 90704915 single base substitution G A intron_variant MELA-AU 10 90705353 90705353 single base substitution C T intron_variant MELA-AU 10 90706192 90706192 single base substitution C T intron_variant MELA-AU 10 90706357 90706357 single base substitution C T intron_variant MELA-AU 10 90706655 90706655 single base substitution C T intron_variant MELA-AU 10 90706811 90706811 single base substitution C T intron_variant MELA-AU 10 90707561 90707561 single base substitution A T intron_variant MELA-AU 10 90708203 90708203 single base substitution G A intron_variant MELA-AU 10 90709825 90709825 single base substitution C T intron_variant MELA-AU 10 90709990 90709990 single base substitution T C intron_variant MELA-AU 10 90710835 90710835 single base substitution C T intron_variant MELA-AU 10 90710840 90710840 single base substitution C T intron_variant MELA-AU 10 90710983 90710983 single base substitution C T intron_variant MELA-AU 10 90711322 90711322 single base substitution C A intron_variant MELA-AU 10 90711420 90711420 single base substitution C T intron_variant MELA-AU 10 90711978 90711978 single base substitution G A intron_variant MELA-AU 10 90712074 90712074 single base substitution C A intron_variant MELA-AU 10 90712580 90712580 single base substitution C T intron_variant MELA-AU 10 90712989 90712989 single base substitution G A intron_variant MELA-AU 10 90713362 90713362 single base substitution G A intron_variant MELA-AU 10 90713560 90713560 single base substitution C T intron_variant MELA-AU 10 90713780 90713780 single base substitution C T intron_variant MELA-AU 10 90714217 90714217 single base substitution C T intron_variant MELA-AU 10 90714285 90714286 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 90715118 90715118 single base substitution C T intron_variant MELA-AU 10 90715413 90715413 single base substitution C T intron_variant MELA-AU 10 90715427 90715427 single base substitution C T intron_variant MELA-AU 10 90715888 90715888 single base substitution C T intron_variant MELA-AU 10 90715917 90715917 single base substitution C T intron_variant MELA-AU 10 90716193 90716193 single base substitution G A intron_variant MELA-AU 10 90716597 90716597 single base substitution G A intron_variant MELA-AU 10 90716683 90716683 single base substitution C T intron_variant MELA-AU 10 90716719 90716719 single base substitution C T intron_variant MELA-AU 10 90717844 90717844 single base substitution G A intron_variant MELA-AU 10 90718357 90718357 single base substitution G A intron_variant MELA-AU 10 90718369 90718369 deletion of <=200bp T - intron_variant MELA-AU 10 90718613 90718614 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 90718616 90718616 single base substitution G A intron_variant MELA-AU 10 90718732 90718732 single base substitution G A intron_variant MELA-AU 10 90719276 90719276 single base substitution C T intron_variant MELA-AU 10 90719373 90719373 single base substitution C T intron_variant MELA-AU 10 90719410 90719410 single base substitution C T intron_variant MELA-AU 10 90719991 90719991 single base substitution G A intron_variant MELA-AU 10 90720906 90720906 single base substitution C T intron_variant MELA-AU 10 90721128 90721128 single base substitution G A intron_variant MELA-AU 10 90722887 90722887 single base substitution G T intron_variant MELA-AU 10 90723624 90723624 single base substitution C T intron_variant MELA-AU 10 90724166 90724166 single base substitution G A intron_variant MELA-AU 10 90724198 90724198 single base substitution G A intron_variant MELA-AU 10 90725488 90725488 single base substitution G A intron_variant MELA-AU 10 90725861 90725861 single base substitution C T intron_variant MELA-AU 10 90725996 90725996 single base substitution C T intron_variant MELA-AU 10 90726393 90726393 single base substitution G A intron_variant MELA-AU 10 90726894 90726894 single base substitution C A intron_variant MELA-AU 10 90728215 90728215 single base substitution C A intron_variant MELA-AU 10 90728215 90728215 single base substitution C T intron_variant MELA-AU 10 90728811 90728811 single base substitution A T intron_variant MELA-AU 10 90728923 90728923 single base substitution A T intron_variant MELA-AU 10 90729987 90729987 single base substitution G A intron_variant MELA-AU 10 90730025 90730025 single base substitution C T intron_variant MELA-AU 10 90730652 90730652 single base substitution G A intron_variant MELA-AU 10 90731995 90731995 single base substitution G A intron_variant MELA-AU 10 90732011 90732011 single base substitution C T intron_variant MELA-AU 10 90732169 90732169 single base substitution C T intron_variant MELA-AU 10 90733018 90733018 single base substitution G A missense_variant G445E 1334G>A MELA-AU 10 90733986 90733986 single base substitution C T 3_prime_UTR_variant MELA-AU 10 90734146 90734146 single base substitution A T 3_prime_UTR_variant MELA-AU 10 90734938 90734938 single base substitution G A downstream_gene_variant MELA-AU 10 90735285 90735285 single base substitution G T downstream_gene_variant MELA-AU 10 90735692 90735692 single base substitution C T downstream_gene_variant MELA-AU 10 90736685 90736686 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 10 90738755 90738755 single base substitution C T downstream_gene_variant ORCA-IN 10 90710600 90710601 deletion of <=200bp AA - intron_variant ORCA-IN 10 90714791 90714791 deletion of <=200bp G - intron_variant OV-AU 10 90636976 90636976 single base substitution T A upstream_gene_variant OV-AU 10 90637648 90637648 single base substitution C T upstream_gene_variant OV-AU 10 90637726 90637726 single base substitution A G upstream_gene_variant OV-AU 10 90640591 90640591 single base substitution C A intron_variant OV-AU 10 90640591 90640591 single base substitution C A upstream_gene_variant OV-AU 10 90647024 90647024 single base substitution C G downstream_gene_variant OV-AU 10 90647024 90647024 single base substitution C G intron_variant OV-AU 10 90662982 90662982 single base substitution T G intron_variant OV-AU 10 90663629 90663629 single base substitution A G intron_variant OV-AU 10 90664659 90664659 single base substitution A C intron_variant OV-AU 10 90671583 90671583 single base substitution C G intron_variant OV-AU 10 90671583 90671583 single base substitution C G upstream_gene_variant OV-AU 10 90676105 90676105 single base substitution C G intron_variant OV-AU 10 90677943 90677943 single base substitution C T intron_variant OV-AU 10 90680481 90680481 single base substitution A G intron_variant OV-AU 10 90695453 90695453 single base substitution G A intron_variant OV-AU 10 90699972 90699972 single base substitution A T intron_variant OV-AU 10 90700040 90700040 single base substitution G A intron_variant OV-AU 10 90703635 90703635 single base substitution A T intron_variant OV-AU 10 90705220 90705220 single base substitution G A intron_variant OV-AU 10 90706780 90706780 single base substitution A C intron_variant OV-AU 10 90708596 90708596 single base substitution G A intron_variant OV-AU 10 90712164 90712164 single base substitution C T intron_variant OV-AU 10 90724759 90724759 single base substitution T C intron_variant PACA-AU 10 90640627 90640627 single base substitution G A intron_variant PACA-AU 10 90640627 90640627 single base substitution G A upstream_gene_variant PACA-AU 10 90651431 90651431 deletion of <=200bp A - intron_variant PACA-AU 10 90652451 90652451 single base substitution T C intron_variant PACA-AU 10 90653503 90653503 deletion of <=200bp A - intron_variant PACA-AU 10 90662347 90662347 single base substitution G A intron_variant PACA-AU 10 90669824 90669824 single base substitution G T intron_variant PACA-AU 10 90669824 90669824 single base substitution G T upstream_gene_variant PACA-AU 10 90670817 90670817 insertion of <=200bp - T intron_variant PACA-AU 10 90670817 90670817 insertion of <=200bp - T upstream_gene_variant PACA-AU 10 90673292 90673292 single base substitution T C intron_variant PACA-AU 10 90676245 90676245 single base substitution C T intron_variant PACA-AU 10 90678412 90678412 single base substitution T G intron_variant PACA-AU 10 90681004 90681004 single base substitution C A intron_variant PACA-AU 10 90688987 90688987 single base substitution C T intron_variant PACA-AU 10 90697897 90697897 deletion of <=200bp C - intron_variant PACA-AU 10 90699415 90699415 single base substitution A G intron_variant PACA-AU 10 90704178 90704178 single base substitution C T intron_variant PACA-AU 10 90711916 90711916 insertion of <=200bp - A intron_variant PACA-AU 10 90711930 90711930 single base substitution C A intron_variant PACA-AU 10 90729164 90729164 single base substitution T A intron_variant PACA-AU 10 90735674 90735674 single base substitution T C downstream_gene_variant PACA-AU 10 90736509 90736532 deletion of <=200bp ACAGAATTTCTTGAAAGTATTTTT - downstream_gene_variant PACA-CA 10 90643092 90643092 single base substitution C G downstream_gene_variant PACA-CA 10 90643092 90643092 single base substitution C G intron_variant PACA-CA 10 90643239 90643239 single base substitution C T downstream_gene_variant PACA-CA 10 90643239 90643239 single base substitution C T intron_variant PACA-CA 10 90651510 90651510 single base substitution G C intron_variant PACA-CA 10 90654292 90654292 single base substitution T A downstream_gene_variant PACA-CA 10 90654292 90654292 single base substitution T A intron_variant PACA-CA 10 90656619 90656619 single base substitution G A downstream_gene_variant PACA-CA 10 90656619 90656619 single base substitution G A intron_variant PACA-CA 10 90656619 90656619 single base substitution G A upstream_gene_variant PACA-CA 10 90658920 90658920 deletion of <=200bp T - intron_variant PACA-CA 10 90658920 90658920 deletion of <=200bp T - upstream_gene_variant PACA-CA 10 90668513 90668513 single base substitution T C synonymous_variant P101P 303T>C PACA-CA 10 90668513 90668513 single base substitution T C upstream_gene_variant PACA-CA 10 90670906 90670906 deletion of <=200bp A - intron_variant PACA-CA 10 90670906 90670906 deletion of <=200bp A - upstream_gene_variant PACA-CA 10 90671046 90671046 single base substitution G A intron_variant PACA-CA 10 90671046 90671046 single base substitution G A upstream_gene_variant PACA-CA 10 90673007 90673007 single base substitution C A synonymous_variant A190A 570C>A PACA-CA 10 90673007 90673007 single base substitution C A synonymous_variant A24A 72C>A PACA-CA 10 90676497 90676497 deletion of <=200bp T - frameshift_variant Y156 PACA-CA 10 90676497 90676497 deletion of <=200bp T - frameshift_variant Y322 PACA-CA 10 90676499 90676499 deletion of <=200bp T - frameshift_variant Y156 PACA-CA 10 90676499 90676499 deletion of <=200bp T - frameshift_variant Y322 PACA-CA 10 90678061 90678061 single base substitution C T intron_variant PACA-CA 10 90678063 90678063 single base substitution T C intron_variant PACA-CA 10 90678697 90678697 deletion of <=200bp T - intron_variant PACA-CA 10 90679423 90679423 single base substitution C G intron_variant PACA-CA 10 90683999 90683999 single base substitution T G downstream_gene_variant PACA-CA 10 90683999 90683999 single base substitution T G intron_variant PACA-CA 10 90688456 90688456 single base substitution T C intron_variant PACA-CA 10 90691088 90691088 insertion of <=200bp - G intron_variant PACA-CA 10 90691208 90691208 deletion of <=200bp T - intron_variant PACA-CA 10 90693039 90693039 single base substitution C G intron_variant PACA-CA 10 90696826 90696826 deletion of <=200bp G - intron_variant PACA-CA 10 90697630 90697630 single base substitution A G intron_variant PACA-CA 10 90702049 90702049 single base substitution C G intron_variant PACA-CA 10 90702721 90702721 single base substitution C A intron_variant PACA-CA 10 90707925 90707925 single base substitution T G intron_variant PACA-CA 10 90714636 90714636 single base substitution C T intron_variant PACA-CA 10 90714996 90714996 single base substitution A G intron_variant PACA-CA 10 90720206 90720206 single base substitution G T intron_variant PACA-CA 10 90723425 90723425 single base substitution T G intron_variant PACA-CA 10 90725465 90725465 single base substitution C G intron_variant PACA-CA 10 90735612 90735612 single base substitution C T downstream_gene_variant PACA-CA 10 90736549 90736549 single base substitution T C downstream_gene_variant PAEN-AU 10 90648179 90648179 single base substitution G T intron_variant PAEN-IT 10 90638260 90638260 single base substitution A G upstream_gene_variant PAEN-IT 10 90698713 90698713 single base substitution A T intron_variant PAEN-IT 10 90709461 90709461 single base substitution G T intron_variant PBCA-DE 10 90636937 90636937 single base substitution G A upstream_gene_variant PBCA-DE 10 90640385 90640385 single base substitution A T 5_prime_UTR_variant PBCA-DE 10 90640385 90640385 single base substitution A T exon_variant PBCA-DE 10 90640385 90640385 single base substitution A T upstream_gene_variant PBCA-DE 10 90645939 90645939 insertion of <=200bp - G downstream_gene_variant PBCA-DE 10 90645939 90645939 insertion of <=200bp - G intron_variant PBCA-DE 10 90645943 90645943 deletion of <=200bp T - downstream_gene_variant PBCA-DE 10 90645943 90645943 deletion of <=200bp T - intron_variant PBCA-DE 10 90647449 90647449 insertion of <=200bp - T downstream_gene_variant PBCA-DE 10 90647449 90647449 insertion of <=200bp - T intron_variant PBCA-DE 10 90656620 90656621 deletion of <=200bp CA - downstream_gene_variant PBCA-DE 10 90656620 90656621 deletion of <=200bp CA - intron_variant PBCA-DE 10 90656620 90656621 deletion of <=200bp CA - upstream_gene_variant PBCA-DE 10 90675443 90675443 single base substitution C T intron_variant PBCA-DE 10 90678039 90678040 deletion of <=200bp CA - intron_variant PBCA-DE 10 90691790 90691792 deletion of <=200bp ATT - intron_variant PBCA-DE 10 90692278 90692278 single base substitution G T intron_variant PBCA-DE 10 90699756 90699756 single base substitution C A intron_variant PBCA-DE 10 90722168 90722168 single base substitution G C intron_variant PBCA-DE 10 90728737 90728737 single base substitution C T intron_variant PBCA-DE 10 90734189 90734189 single base substitution A G 3_prime_UTR_variant PBCA-DE 10 90735973 90735973 single base substitution C A downstream_gene_variant PRAD-CA 10 90642297 90642297 single base substitution T C exon_variant PRAD-CA 10 90642297 90642297 single base substitution T C intron_variant PRAD-CA 10 90647950 90647950 single base substitution G A intron_variant PRAD-CA 10 90665267 90665267 single base substitution T C missense_variant L33P 98T>C PRAD-CA 10 90694395 90694395 single base substitution T C intron_variant PRAD-CA 10 90731872 90731872 single base substitution G A intron_variant PRAD-UK 10 90680673 90680673 single base substitution A C intron_variant PRAD-UK 10 90731070 90731070 single base substitution C T intron_variant READ-US 10 90670711 90670711 single base substitution G T missense_variant L121F 363G>T READ-US 10 90670711 90670711 single base substitution G T upstream_gene_variant READ-US 10 90697868 90697868 single base substitution G A intron_variant RECA-EU 10 90636448 90636448 single base substitution G A upstream_gene_variant RECA-EU 10 90657776 90657776 single base substitution T G downstream_gene_variant RECA-EU 10 90657776 90657776 single base substitution T G intron_variant RECA-EU 10 90657776 90657776 single base substitution T G upstream_gene_variant RECA-EU 10 90661113 90661113 single base substitution A T 5_prime_UTR_variant RECA-EU 10 90661113 90661113 single base substitution A T intron_variant RECA-EU 10 90661947 90661947 single base substitution C G intron_variant RECA-EU 10 90683396 90683396 single base substitution T C downstream_gene_variant RECA-EU 10 90683396 90683396 single base substitution T C intron_variant RECA-EU 10 90714817 90714817 single base substitution G A intron_variant RECA-EU 10 90716745 90716745 single base substitution A C intron_variant RECA-EU 10 90721393 90721393 single base substitution G A intron_variant SKCA-BR 10 90637305 90637305 single base substitution C T upstream_gene_variant SKCA-BR 10 90638833 90638833 single base substitution G A upstream_gene_variant SKCA-BR 10 90639593 90639593 single base substitution G A 5_prime_UTR_variant SKCA-BR 10 90639593 90639593 single base substitution G A upstream_gene_variant SKCA-BR 10 90639937 90639937 single base substitution G A 5_prime_UTR_variant SKCA-BR 10 90639937 90639937 single base substitution G A upstream_gene_variant SKCA-BR 10 90641740 90641740 single base substitution C G intron_variant SKCA-BR 10 90641740 90641740 single base substitution C G upstream_gene_variant SKCA-BR 10 90643306 90643306 single base substitution T C downstream_gene_variant SKCA-BR 10 90643306 90643306 single base substitution T C intron_variant SKCA-BR 10 90649567 90649567 single base substitution C T intron_variant SKCA-BR 10 90653373 90653373 single base substitution C T intron_variant SKCA-BR 10 90655400 90655400 single base substitution G A downstream_gene_variant SKCA-BR 10 90655400 90655400 single base substitution G A intron_variant SKCA-BR 10 90655463 90655463 single base substitution G T downstream_gene_variant SKCA-BR 10 90655463 90655463 single base substitution G T intron_variant SKCA-BR 10 90655537 90655537 single base substitution C T downstream_gene_variant SKCA-BR 10 90655537 90655537 single base substitution C T intron_variant SKCA-BR 10 90659837 90659837 single base substitution G T intron_variant SKCA-BR 10 90659837 90659837 single base substitution G T upstream_gene_variant SKCA-BR 10 90661632 90661632 single base substitution C T intron_variant SKCA-BR 10 90662333 90662333 insertion of <=200bp - CT intron_variant SKCA-BR 10 90663680 90663680 single base substitution C T intron_variant SKCA-BR 10 90663827 90663827 single base substitution C T intron_variant SKCA-BR 10 90664410 90664410 single base substitution A C intron_variant SKCA-BR 10 90666730 90666730 single base substitution C T intron_variant SKCA-BR 10 90666764 90666764 single base substitution C T intron_variant SKCA-BR 10 90666913 90666913 single base substitution T C intron_variant SKCA-BR 10 90667095 90667095 single base substitution G A intron_variant SKCA-BR 10 90670274 90670274 single base substitution C T intron_variant SKCA-BR 10 90670274 90670274 single base substitution C T upstream_gene_variant SKCA-BR 10 90670305 90670305 single base substitution C T intron_variant SKCA-BR 10 90670305 90670305 single base substitution C T upstream_gene_variant SKCA-BR 10 90675169 90675169 single base substitution C T intron_variant SKCA-BR 10 90678765 90678765 single base substitution C T intron_variant SKCA-BR 10 90686875 90686875 single base substitution G T downstream_gene_variant SKCA-BR 10 90686875 90686875 single base substitution G T intron_variant SKCA-BR 10 90687605 90687605 single base substitution C T downstream_gene_variant SKCA-BR 10 90687605 90687605 single base substitution C T intron_variant SKCA-BR 10 90689617 90689617 single base substitution C T intron_variant SKCA-BR 10 90691355 90691355 single base substitution G T intron_variant SKCA-BR 10 90691584 90691584 insertion of <=200bp - CT intron_variant SKCA-BR 10 90691789 90691789 insertion of <=200bp - GATTATTATTATTATTATT intron_variant SKCA-BR 10 90707179 90707179 single base substitution C T intron_variant SKCA-BR 10 90707639 90707639 single base substitution C T intron_variant SKCA-BR 10 90707854 90707854 single base substitution G T intron_variant SKCA-BR 10 90718034 90718034 single base substitution G A intron_variant SKCA-BR 10 90725676 90725676 single base substitution C T intron_variant SKCA-BR 10 90733194 90733194 single base substitution G T 3_prime_UTR_variant SKCA-BR 10 90733433 90733433 single base substitution A G 3_prime_UTR_variant SKCA-BR 10 90733756 90733756 single base substitution A C 3_prime_UTR_variant SKCA-BR 10 90733802 90733802 single base substitution A C 3_prime_UTR_variant SKCA-BR 10 90736734 90736734 single base substitution A T downstream_gene_variant SKCA-BR 10 90739597 90739597 single base substitution C T downstream_gene_variant SKCM-US 10 90665351 90665351 single base substitution T G missense_variant M61R 182T>G SKCM-US 10 90673100 90673100 single base substitution C T synonymous_variant S221S 663C>T SKCM-US 10 90673100 90673100 single base substitution C T synonymous_variant S55S 165C>T SKCM-US 10 90673158 90673158 single base substitution C T missense_variant H241Y 721C>T SKCM-US 10 90673158 90673158 single base substitution C T missense_variant H75Y 223C>T SKCM-US 10 90673167 90673167 single base substitution C T missense_variant P244S 730C>T SKCM-US 10 90673167 90673167 single base substitution C T missense_variant P78S 232C>T SKCM-US 10 90695041 90695041 single base substitution C T intron_variant SKCM-US 10 90695113 90695113 single base substitution G A intron_variant SKCM-US 10 90697867 90697867 single base substitution C T intron_variant SKCM-US 10 90697976 90697976 single base substitution C T intron_variant SKCM-US 10 90703574 90703574 single base substitution T C intron_variant SKCM-US 10 90732959 90732959 single base substitution G A synonymous_variant G425G 1275G>A SKCM-US 10 90733018 90733018 single base substitution G A missense_variant G445E 1334G>A STAD-US 10 90665312 90665312 single base substitution C A missense_variant P48Q 143C>A STAD-US 10 90665321 90665321 single base substitution A G missense_variant Y51C 152A>G STAD-US 10 90682146 90682146 insertion of <=200bp - A frameshift_variant K237K? STAD-US 10 90682146 90682146 insertion of <=200bp - A frameshift_variant K403K? STAD-US 10 90682161 90682161 deletion of <=200bp C - frameshift_variant H242 STAD-US 10 90682161 90682161 deletion of <=200bp C - frameshift_variant H408 STAD-US 10 90697858 90697858 single base substitution T G intron_variant STAD-US 10 90699289 90699289 single base substitution C T intron_variant STAD-US 10 90699305 90699305 single base substitution C T intron_variant STAD-US 10 90701123 90701123 single base substitution C G intron_variant STAD-US 10 90701549 90701549 single base substitution G A intron_variant STAD-US 10 90708573 90708573 single base substitution G A intron_variant STAD-US 10 90708624 90708624 single base substitution C T intron_variant STAD-US 10 90708675 90708675 single base substitution C G intron_variant UCEC-US 10 90665260 90665260 single base substitution C T missense_variant R31C 91C>T UCEC-US 10 90670745 90670745 single base substitution T A missense_variant Y133N 397T>A UCEC-US 10 90670745 90670745 single base substitution T A upstream_gene_variant UCEC-US 10 90676453 90676453 single base substitution C A missense_variant T141N 422C>A UCEC-US 10 90676453 90676453 single base substitution C A missense_variant T307N 920C>A UCEC-US 10 90681119 90681119 single base substitution C T missense_variant A208V 623C>T UCEC-US 10 90681119 90681119 single base substitution C T missense_variant A374V 1121C>T UCEC-US 10 90695022 90695022 single base substitution G A intron_variant UCEC-US 10 90697964 90697964 single base substitution T C intron_variant UCEC-US 10 90699335 90699335 single base substitution T C intron_variant UCEC-US 10 90699346 90699346 single base substitution G A intron_variant UCEC-US 10 90700995 90700995 single base substitution C T intron_variant UCEC-US 10 90703578 90703578 single base substitution C A intron_variant UCEC-US 10 90707053 90707053 single base substitution C A intron_variant UCEC-US 10 90707098 90707098 single base substitution C T intron_variant UCEC-US 10 90708572 90708572 single base substitution C T intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand tumor_4120193 COSM3952829 c.181A>C p.M61L Substitution - Missense 10:88905593-88905593 + CHEWS002 COSM4573874 c.1176C>T p.T392T Substitution - coding silent 10:88922358-88922358 + 61 COSM5738977 c.1114C>A p.P372T Substitution - Missense 10:88921355-88921355 + TCGA-A6-6780-01 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + PCSI_0083_Pa_X COSM3375548 c.303T>C p.P101P Substitution - coding silent 10:88908756-88908756 + TCGA-AD-A5EJ-01 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + LIM1899 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + I2L-P19Ta-Tumor-Biopsy COSM5359978 c.6T>C p.D2D Substitution - coding silent 10:88901714-88901714 + pfg181T COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + LS411 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + PT36 COSM4730395 c.370G>A p.D124N Substitution - Missense 10:88910961-88910961 + Au1 COSM5597669 c.926C>T p.T309I Substitution - Missense 10:88916702-88916702 + LS411 COSM1968536 c.487C>T p.R163W Substitution - Missense 10:88913167-88913167 + TCGA-CM-6162-01 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + TCGA-CG-4442-01 COSM4016478 c.152A>G p.Y51C Substitution - Missense 10:88905564-88905564 + TCGA-EE-A182-06 COSM3868016 c.663C>T p.S221S Substitution - coding silent 10:88913343-88913343 + PD3905a COSM219231 c.85C>G p.R29G Substitution - Missense 10:88905497-88905497 + 61 COSM5738975 c.85C>T p.R29* Substitution - Nonsense 10:88905497-88905497 + Pat_06_A COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + PTC-14C COSM4144961 c.163G>T p.G55* Substitution - Nonsense 10:88905575-88905575 + 169 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + Pat_26_B COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + PD3905a COSM219231 c.85C>G p.R29G Substitution - Missense 10:88905497-88905497 + LUAD-CHTN-Z4716A COSM361511 c.931G>C p.V311L Substitution - Missense 10:88916707-88916707 + TCGA-D5-6530-01 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + SJRHB012 COSM3737095 c.1239_1241delGCC p.E413_P414>D Complex - deletion inframe 10:88922421-88922423 + TCGA-CM-5868-01 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + S01578 COSM5670217 c.516A>G p.L172L Substitution - coding silent 10:88913196-88913196 + QC2-32-T2 COSM5654161 c.1085A>G p.H362R Substitution - Missense 10:88921326-88921326 + TCGA-AP-A0LM-01 COSM921206 c.91C>T p.R31C Substitution - Missense 10:88905503-88905503 + TCGA-12-0619 COSM2153630 c.883G>T p.G295* Substitution - Nonsense 10:88914638-88914638 + ccRCC-75 COSM1664372 c.641T>A p.F214Y Substitution - Missense 10:88913321-88913321 + TCGA-AP-A056-01 COSM921214 c.1121C>T p.A374V Substitution - Missense 10:88921362-88921362 + ESCC_51 COSM5630977 c.800G>A p.R267Q Substitution - Missense 10:88914555-88914555 + T3204 COSM1968524 c.92G>A p.R31H Substitution - Missense 10:88905504-88905504 + PCSI_0083_Pa_P_526 COSM3375548 c.303T>C p.P101P Substitution - coding silent 10:88908756-88908756 + TARGET-30-PARBGP COSM1288231 c.369C>T p.N123N Substitution - coding silent 10:88910960-88910960 + I2L-P7-Tumor-Organoid COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + HCC96 COSM3665938 c.1130T>C p.I377T Substitution - Missense 10:88921371-88921371 + TCGA-HU-A4GQ-01 COSM4016476 c.143C>A p.P48Q Substitution - Missense 10:88905555-88905555 + ME032T COSM227313 c.719G>A p.S240N Substitution - Missense 10:88913399-88913399 + T2269 COSM428098 c.421-1G>T p.? Unknown 10:88913100-88913100 + HCC96T COSM3665938 c.1130T>C p.I377T Substitution - Missense 10:88921371-88921371 + TCGA-AA-3663-01 COSM1349674 c.816_818delAGA p.E273delE Deletion - In frame 10:88914571-88914573 + TCGA-G4-6310-01 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + LUAD-F00368 COSM340892 c.638G>T p.C213F Substitution - Missense 10:88913318-88913318 + 453 COSM4435903 c.1023C>T p.L341L Substitution - coding silent 10:88916799-88916799 + STC232 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + HCC2998 COSM1968542 c.541G>A p.E181K Substitution - Missense 10:88913221-88913221 + BD72T COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + LUAD-5V8LT COSM401077 c.766A>T p.S256C Substitution - Missense 10:88913446-88913446 + Pat_41_B COSM5837424 c.903+1G>A p.? Unknown 10:88914659-88914659 + 03-P1004 COSM4573872 c.272A>C p.N91T Substitution - Missense 10:88908725-88908725 + TCGA-DG-A2KM-01 COSM4851721 c.321G>C p.M107I Substitution - Missense 10:88908774-88908774 + TCGA-12-0619-01 COSM2153630 c.883G>T p.G295* Substitution - Nonsense 10:88914638-88914638 + CHC121T COSM216929 c.178A>T p.R60W Substitution - Missense 10:88905590-88905590 + CPCG0260-F1 COSM4880311 c.98T>C p.L33P Substitution - Missense 10:88905510-88905510 + TCGA-AP-A054-01 COSM921210 c.397T>A p.Y133N Substitution - Missense 10:88910988-88910988 + HCC2998 COSM1968550 c.694A>C p.K232Q Substitution - Missense 10:88913374-88913374 + TCGA-B8-4148-01 COSM466053 c.1294G>T p.V432L Substitution - Missense 10:88923207-88923207 + TCGA-D5-6930-01 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + T3152 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + CSCC-27-T COSM4460404 c.1164C>T p.I388I Substitution - coding silent 10:88922346-88922346 + TCGA-JW-A69B-01 COSM4829551 c.583C>T p.R195* Substitution - Nonsense 10:88913263-88913263 + TCGA-AZ-6601-01 COSM5142157 c.1154+7G>A p.? Unknown 10:88921402-88921402 + CHC121T COSM216929 c.178A>T p.R60W Substitution - Missense 10:88905590-88905590 + SJHGG034_D COSM4970600 c.149G>A p.R50H Substitution - Missense 10:88905561-88905561 + TCGA-BT-A42C-01 COSM4390162 c.444C>G p.L148L Substitution - coding silent 10:88913124-88913124 + TCGA-DM-A1HB-01 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + T3118 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + TCGA-EB-A3Y6-01 COSM3441362 c.730C>T p.P244S Substitution - Missense 10:88913410-88913410 + T3080 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + I2L-P19Ta-Tumor-Organoid COSM5359978 c.6T>C p.D2D Substitution - coding silent 10:88901714-88901714 + PD11380a COSM4730393 c.148C>T p.R50C Substitution - Missense 10:88905560-88905560 + TCGA-06-0145 COSM2149736 c.78A>T p.P26P Substitution - coding silent 10:88905490-88905490 + TCGA-AD-A5EJ-01 COSM5132642 c.12T>C p.P4P Substitution - coding silent 10:88901720-88901720 + CSCC-56-T COSM4499361 c.540C>T p.F180F Substitution - coding silent 10:88913220-88913220 + T578 COSM4730397 c.874G>T p.E292* Substitution - Nonsense 10:88914629-88914629 + T3090 COSM1561189 c.953C>T p.A318V Substitution - Missense 10:88916729-88916729 + CSCC-27-T COSM4457512 c.1048C>T p.P350S Substitution - Missense 10:88921289-88921289 + 392 COSM4428042 c.1074C>A p.S358R Substitution - Missense 10:88921315-88921315 + QC2-32-T2 COSM5654163 c.1111T>G p.L371V Substitution - Missense 10:88921352-88921352 + TCGA-G4-6628-01 COSM1349679 c.1021C>A p.L341I Substitution - Missense 10:88916797-88916797 + TCGA-FW-A3R5-06 COSM3868018 c.721C>T p.H241Y Substitution - Missense 10:88913401-88913401 + TCGA-F5-6814-01 COSM3415320 c.363G>T p.L121F Substitution - Missense 10:88910954-88910954 + YUKAT COSM1194537 c.727C>T p.P243S Substitution - Missense 10:88913407-88913407 + TCGA-AB-2814-03 COSM1317417 c.689C>T p.P230L Substitution - Missense 10:88913369-88913369 + QC2-32-T2 COSM5654159 c.1076T>C p.V359A Substitution - Missense 10:88921317-88921317 + T3090 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + LS180 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + CHC121T COSM216929 c.178A>T p.R60W Substitution - Missense 10:88905590-88905590 + TCGA-AN-A0XN-01 COSM428098 c.421-1G>T p.? Unknown 10:88913100-88913100 + 19 COSM5747149 c.1188G>A p.M396I Substitution - Missense 10:88922370-88922370 + PT52 COSM5089714 c.420+8C>T p.? Unknown 10:88911019-88911019 + TCGA-A6-5665-01 COSM5089714 c.420+8C>T p.? Unknown 10:88911019-88911019 + Pat_16_B COSM5837422 c.521C>T p.S174L Substitution - Missense 10:88913201-88913201 + TCGA-BH-A18V-01 COSM428096 c.7C>A p.Q3K Substitution - Missense 10:88901715-88901715 + TCGA-AZ-6598-01 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + TCGA-DM-A1D7-01 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + TCGA-AA-3672-01 COSM267518 c.293G>A p.C98Y Substitution - Missense 10:88908746-88908746 + RK214_C01 COSM3738770 c.731C>A p.P244H Substitution - Missense 10:88913411-88913411 + TCGA-AX-A05Z-01 COSM921212 c.920C>A p.T307N Substitution - Missense 10:88916696-88916696 + RKO COSM1968548 c.669G>A p.L223L Substitution - coding silent 10:88913349-88913349 + TCGA-24-1474-01 COSM72820 c.953C>A p.A318E Substitution - Missense 10:88916729-88916729 + H650 COSM1194537 c.727C>T p.P243S Substitution - Missense 10:88913407-88913407 + ESCC_BICR_065T COSM5442258 c.886A>G p.I296V Substitution - Missense 10:88914641-88914641 + TCGA-EE-A2M5-06 COSM3441360 c.182T>G p.M61R Substitution - Missense 10:88905594-88905594 + TCGA-D5-6539-01 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + T3155 COSM4730395 c.370G>A p.D124N Substitution - Missense 10:88910961-88910961 + TCGA-A6-6141-01 COSM1349683 c.1285A>C p.K429Q Substitution - Missense 10:88923198-88923198 + CSCC-16-T COSM4454322 c.461A>G p.Q154R Substitution - Missense 10:88913141-88913141 + TCGA-A6-2675-01 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + TCGA-CK-5916-01 COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + SJRHB012_R COSM3737095 c.1239_1241delGCC p.E413_P414>D Complex - deletion inframe 10:88922421-88922423 + LS174T COSM1349681 c.1207delA p.K405fs*21 Deletion - Frameshift 10:88922389-88922389 + CSCC-62-T COSM4543273 c.334G>A p.E112K Substitution - Missense 10:88910925-88910925 + T3021 COSM4730393 c.148C>T p.R50C Substitution - Missense 10:88905560-88905560 + ESCC_BICR_045T COSM5441496 c.468G>C p.L156F Substitution - Missense 10:88913148-88913148 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.16229 10q23.31 612352 2441336|CGAP|BC010846|C/T|non-coding||1876|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.K405Rfs*21 c.1214delA 10 90682146 STAD A G 3-UTRSNV . c.1308+73A>G 10 90683051 CM A G Synonymous p.R49R c.147A>G 10 90665316 HNSC A T 5-UTRSNV . c.1-21081A>T 10 90640385 MB A T Missense p.R60W c.178A>T 10 90665347 HC A T Synonymous p.P26P c.78A>T 10 90665247 GBM C A Missense p.A318E c.953C>A 10 90676486 OV C A Missense p.Q3K c.7C>A 10 90661472 BRCA C T Missense p.L148F c.442C>T 10 90672879 CM C T Synonymous p.N123N c.369C>T 10 90670717 NB C T Synonymous p.N130N c.390C>T 10 90670738 LUAD C T Synonymous p.S221S c.663C>T 10 90673100 CM G A 5-UTRSNV . c.1-21280G>A 10 90640186 DLBCL G A IntronicSNV . c.1-119G>A 10 90661347 CM G C SpliceAcceptorSNV . c.1255-1G>C 10 90682924 HNSC G T Missense p.V432L c.1294G>T 10 90682964 RCCC G T Nonsense p.G295* c.883G>T 10 90674395 GBM G T SpliceAcceptorSNV . c.421-1G>T 10 90672857 BRCA T A Missense p.L71M c.211T>A 10 90665380 HNSC T A Missense p.Y133N c.397T>A 10 90670745 UCEC T G Missense p.M61R c.182T>G 10 90665351 CM T - IntronicDeletion . c.904-41delT 10 90676385 STAD