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 12 109505358 109505358 + Missense_Mutation SNP G G A TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr12:109505358G>A c.406G>A c.(406-408)Gag>Aag p.E136K BLCA 12 109505358 109505358 + Missense_Mutation SNP G G A TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr12:109505358G>A c.406G>A c.(406-408)Gag>Aag p.E136K BLCA 12 109520488 109520488 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr12:109520488G>C c.888G>C c.(886-888)ttG>ttC p.L296F BRCA 12 109494574 109494574 + Silent SNP A A G TCGA-AO-A12E-01A-11D-A10M-09 TCGA-AO-A12E-10A-01D-A10M-09 g.chr12:109494574A>G c.171A>G c.(169-171)acA>acG p.T57T BRCA 12 109510140 109510140 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr12:109510140A>C c.610A>C c.(610-612)Acc>Ccc p.T204P CESC 12 109505432 109505432 + Splice_Site SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr12:109505432G>A c.480G>A c.(478-480)caG>caA p.Q160Q COAD 12 109519148 109519148 + Nonsense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:109519148C>T c.730C>T c.(730-732)Cga>Tga p.R244* COAD 12 109520484 109520484 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr12:109520484C>T c.884C>T c.(883-885)aCg>aTg p.T295M COADREAD 12 109494587 109494587 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:109494587C>T c.184C>T c.(184-186)Cgt>Tgt p.R62C COADREAD 12 109519148 109519148 + Nonsense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:109519148C>T c.730C>T c.(730-732)Cga>Tga p.R244* COADREAD 12 109520484 109520484 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr12:109520484C>T c.884C>T c.(883-885)aCg>aTg p.T295M COADREAD 12 109523555 109523555 + Missense_Mutation SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr12:109523555G>A c.1373G>A c.(1372-1374)cGg>cAg p.R458Q ESCA 12 109523554 109523554 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 g.chr12:109523554C>T c.1372C>T c.(1372-1374)Cgg>Tgg p.R458W GBM 12 109495849 109495849 + Silent SNP C C A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 g.chr12:109495849C>A c.312C>A c.(310-312)tcC>tcA p.S104S GBM 12 109509449 109509449 + Silent SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 g.chr12:109509449G>A c.513G>A c.(511-513)tcG>tcA p.S171S GBMLGG 12 109495849 109495849 + Silent SNP C C A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 g.chr12:109495849C>A c.312C>A c.(310-312)tcC>tcA p.S104S GBMLGG 12 109509449 109509449 + Silent SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 g.chr12:109509449G>A c.513G>A c.(511-513)tcG>tcA p.S171S GBMLGG 12 109519737 109519737 + Splice_Site SNP G G A TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 g.chr12:109519737G>A c.e9-1 HNSC 12 109509480 109509480 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr12:109509480C>T c.544C>T c.(544-546)Cgg>Tgg p.R182W HNSC 12 109520485 109520485 + Silent SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 g.chr12:109520485G>A c.885G>A c.(883-885)acG>acA p.T295T HNSC 12 109522852 109522852 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr12:109522852C>T c.1263C>T c.(1261-1263)ttC>ttT p.F421F HNSC 12 109522853 109522853 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 g.chr12:109522853C>T c.1264C>T c.(1264-1266)Cct>Tct p.P422S HNSC 12 109522854 109522854 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 g.chr12:109522854C>T c.1265C>T c.(1264-1266)cCt>cTt p.P422L KIPAN 12 109490532 109490532 + Missense_Mutation SNP A A T TCGA-B1-A654-01A-11D-A31X-10 TCGA-B1-A654-10A-01D-A31X-10 g.chr12:109490532A>T c.49A>T c.(49-51)Atc>Ttc p.I17F KIPAN 12 109520853 109520853 + Missense_Mutation SNP G G A TCGA-IA-A83T-01A-11D-A34Z-10 TCGA-IA-A83T-11A-11D-A34Z-10 g.chr12:109520853G>A c.1154G>A c.(1153-1155)gGa>gAa p.G385E KIRP 12 109490532 109490532 + Missense_Mutation SNP A A T TCGA-B1-A654-01A-11D-A31X-10 TCGA-B1-A654-10A-01D-A31X-10 g.chr12:109490532A>T c.49A>T c.(49-51)Atc>Ttc p.I17F KIRP 12 109520853 109520853 + Missense_Mutation SNP G G A TCGA-IA-A83T-01A-11D-A34Z-10 TCGA-IA-A83T-11A-11D-A34Z-10 g.chr12:109520853G>A c.1154G>A c.(1153-1155)gGa>gAa p.G385E LGG 12 109519737 109519737 + Splice_Site SNP G G A TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 g.chr12:109519737G>A c.e9-1 LIHC 12 109519740 109519740 + Silent SNP T T C TCGA-BD-A3EP-01A-11D-A22F-10 TCGA-BD-A3EP-11A-12D-A22F-10 g.chr12:109519740T>C c.783T>C c.(781-783)ggT>ggC p.G261G LIHC 12 109522828 109522828 + Silent SNP A A G TCGA-DD-A1ED-01A-11D-A152-10 TCGA-DD-A1ED-10A-01D-A152-10 g.chr12:109522828A>G c.1239A>G c.(1237-1239)ccA>ccG p.P413P LUAD 12 109494575 109494575 + Missense_Mutation SNP G G C TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr12:109494575G>C c.172G>C c.(172-174)Gaa>Caa p.E58Q LUAD 12 109495743 109495743 + Missense_Mutation SNP G G T TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr12:109495743G>T c.206G>T c.(205-207)gGc>gTc p.G69V LUAD 12 109520514 109520514 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr12:109520514G>T c.914G>T c.(913-915)aGg>aTg p.R305M LUSC 12 109510129 109510129 + Missense_Mutation SNP C C G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr12:109510129C>G c.599C>G c.(598-600)cCc>cGc p.P200R LUSC 12 109520495 109520495 + Nonsense_Mutation SNP G G T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 g.chr12:109520495G>T c.895G>T c.(895-897)Gaa>Taa p.E299* LUSC 12 109520498 109520498 + Missense_Mutation SNP A A G TCGA-66-2793-01A-01D-1267-08 TCGA-66-2793-11A-01D-1267-08 g.chr12:109520498A>G c.898A>G c.(898-900)Aag>Gag p.K300E LUSC 12 109520716 109520716 + Silent SNP G G A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr12:109520716G>A c.1017G>A c.(1015-1017)cgG>cgA p.R339R LUSC 12 109523484 109523484 + Silent SNP C C T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 g.chr12:109523484C>T c.1302C>T c.(1300-1302)taC>taT p.Y434Y PAAD 12 109520716 109520716 + Silent SNP G G A TCGA-H8-A6C1-01A-11D-A32N-08 TCGA-H8-A6C1-10A-01D-A32N-08 g.chr12:109520716G>A c.1017G>A c.(1015-1017)cgG>cgA p.R339R PAAD 12 109523652 109523652 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:109523652G>A c.1470G>A c.(1468-1470)ctG>ctA p.L490L PRAD 12 109519153 109519153 + Missense_Mutation SNP T T G TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 g.chr12:109519153T>G c.735T>G c.(733-735)ttT>ttG p.F245L PRAD 12 109522826 109522826 + Missense_Mutation SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr12:109522826C>T c.1237C>T c.(1237-1239)Cca>Tca p.P413S PRAD 12 109523652 109523652 + Silent SNP G G T TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 g.chr12:109523652G>T c.1470G>T c.(1468-1470)ctG>ctT p.L490L READ 12 109494587 109494587 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:109494587C>T c.184C>T c.(184-186)Cgt>Tgt p.R62C READ 12 109523555 109523555 + Missense_Mutation SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr12:109523555G>A c.1373G>A c.(1372-1374)cGg>cAg p.R458Q SARC 12 109511301 109511301 + Silent SNP C C G TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 g.chr12:109511301C>G c.684C>G c.(682-684)ctC>ctG p.L228L SARC 12 109522791 109522791 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr12:109522791T>A c.1202T>A c.(1201-1203)aTt>aAt p.I401N SKCM 12 109494518 109494518 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr12:109494518G>A c.115G>A c.(115-117)Ggt>Agt p.G39S SKCM 12 109494566 109494566 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr12:109494566C>T c.163C>T c.(163-165)Ccc>Tcc p.P55S SKCM 12 109509423 109509423 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:109509423C>T c.487C>T c.(487-489)Cac>Tac p.H163Y SKCM 12 109509434 109509434 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr12:109509434C>T c.498C>T c.(496-498)ttC>ttT p.F166F SKCM 12 109511303 109511303 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:109511303C>T c.686C>T c.(685-687)aCt>aTt p.T229I SKCM 12 109523491 109523491 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr12:109523491C>T c.1309C>T c.(1309-1311)Cgg>Tgg p.R437W SKCM 12 109523518 109523518 + Missense_Mutation SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr12:109523518G>A c.1336G>A c.(1336-1338)Gga>Aga p.G446R SKCM 12 109523519 109523519 + Missense_Mutation SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr12:109523519G>A c.1337G>A c.(1336-1338)gGa>gAa p.G446E

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 12 109523643 109523643 single base substitution G A downstream_gene_variant BLCA-CN 12 109523643 109523643 single base substitution G A exon_variant BLCA-CN 12 109523643 109523643 single base substitution G A synonymous_variant Q456Q 1368G>A BLCA-CN 12 109523643 109523643 single base substitution G A synonymous_variant Q487Q 1461G>A BLCA-US 12 109526080 109526080 single base substitution G A downstream_gene_variant BLCA-US 12 109530580 109530580 single base substitution G A downstream_gene_variant BRCA-EU 12 109456330 109456330 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 109456330 109456330 insertion of <=200bp - T upstream_gene_variant BRCA-EU 12 109456859 109456859 single base substitution A G upstream_gene_variant BRCA-EU 12 109457355 109457355 single base substitution C G upstream_gene_variant BRCA-EU 12 109457992 109457992 single base substitution C T upstream_gene_variant BRCA-EU 12 109458173 109458173 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 109458815 109458815 single base substitution G T upstream_gene_variant BRCA-EU 12 109459100 109459100 single base substitution T C upstream_gene_variant BRCA-EU 12 109459456 109459456 single base substitution C A upstream_gene_variant BRCA-EU 12 109459505 109459505 single base substitution G C upstream_gene_variant BRCA-EU 12 109459913 109459913 single base substitution C T upstream_gene_variant BRCA-EU 12 109459998 109459998 single base substitution G T upstream_gene_variant BRCA-EU 12 109460256 109460256 single base substitution T A upstream_gene_variant BRCA-EU 12 109461604 109461604 single base substitution A T intron_variant BRCA-EU 12 109462720 109462720 single base substitution G A 5_prime_UTR_variant BRCA-EU 12 109464065 109464065 single base substitution G C intron_variant BRCA-EU 12 109465378 109465378 single base substitution C A intron_variant BRCA-EU 12 109465522 109465522 single base substitution C G intron_variant BRCA-EU 12 109467250 109467250 single base substitution T G intron_variant BRCA-EU 12 109468572 109468572 single base substitution C T intron_variant BRCA-EU 12 109468685 109468685 single base substitution C T intron_variant BRCA-EU 12 109468699 109468699 single base substitution G A intron_variant BRCA-EU 12 109468833 109468833 single base substitution C G intron_variant BRCA-EU 12 109470599 109470599 single base substitution G C intron_variant BRCA-EU 12 109470949 109470949 single base substitution C G intron_variant BRCA-EU 12 109472384 109472384 single base substitution A G intron_variant BRCA-EU 12 109473631 109473631 single base substitution A T intron_variant BRCA-EU 12 109474104 109474104 single base substitution C A intron_variant BRCA-EU 12 109474597 109474597 single base substitution G T intron_variant BRCA-EU 12 109475596 109475596 single base substitution T C intron_variant BRCA-EU 12 109478005 109478005 single base substitution A C intron_variant BRCA-EU 12 109479082 109479082 single base substitution A T intron_variant BRCA-EU 12 109480016 109480016 single base substitution T C intron_variant BRCA-EU 12 109481100 109481100 single base substitution G C intron_variant BRCA-EU 12 109481196 109481196 single base substitution G C intron_variant BRCA-EU 12 109482729 109482729 deletion of <=200bp A - intron_variant BRCA-EU 12 109483130 109483130 single base substitution T C intron_variant BRCA-EU 12 109483993 109483993 deletion of <=200bp C - intron_variant BRCA-EU 12 109484204 109484204 single base substitution C T intron_variant BRCA-EU 12 109484385 109484385 single base substitution T C intron_variant BRCA-EU 12 109484407 109484407 single base substitution G T intron_variant BRCA-EU 12 109484777 109484777 single base substitution C A intron_variant BRCA-EU 12 109486142 109486142 single base substitution C T intron_variant BRCA-EU 12 109486142 109486142 single base substitution C T upstream_gene_variant BRCA-EU 12 109486996 109486996 single base substitution C T intron_variant BRCA-EU 12 109486996 109486996 single base substitution C T upstream_gene_variant BRCA-EU 12 109488508 109488512 deletion of <=200bp GTACC - intron_variant BRCA-EU 12 109488508 109488512 deletion of <=200bp GTACC - upstream_gene_variant BRCA-EU 12 109489096 109489096 single base substitution C A intron_variant BRCA-EU 12 109489096 109489096 single base substitution C A upstream_gene_variant BRCA-EU 12 109490172 109490172 single base substitution C T intron_variant BRCA-EU 12 109490172 109490172 single base substitution C T upstream_gene_variant BRCA-EU 12 109491078 109491078 single base substitution C G intron_variant BRCA-EU 12 109491090 109491090 single base substitution G A intron_variant BRCA-EU 12 109494343 109494343 single base substitution A G intron_variant BRCA-EU 12 109495634 109495634 single base substitution A C intron_variant BRCA-EU 12 109495720 109495720 deletion of <=200bp T - intron_variant BRCA-EU 12 109497697 109497697 single base substitution A G downstream_gene_variant BRCA-EU 12 109497697 109497697 single base substitution A G intron_variant BRCA-EU 12 109497929 109497929 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 109497929 109497929 deletion of <=200bp T - intron_variant BRCA-EU 12 109498470 109498470 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 109498470 109498470 deletion of <=200bp T - intron_variant BRCA-EU 12 109498764 109498764 single base substitution T A downstream_gene_variant BRCA-EU 12 109498764 109498764 single base substitution T A intron_variant BRCA-EU 12 109499216 109499216 single base substitution T A downstream_gene_variant BRCA-EU 12 109499216 109499216 single base substitution T A intron_variant BRCA-EU 12 109500554 109500554 single base substitution A C downstream_gene_variant BRCA-EU 12 109500554 109500554 single base substitution A C intron_variant BRCA-EU 12 109500554 109500554 single base substitution A C upstream_gene_variant BRCA-EU 12 109502578 109502578 single base substitution C T intron_variant BRCA-EU 12 109502578 109502578 single base substitution C T upstream_gene_variant BRCA-EU 12 109504177 109504177 single base substitution G C intron_variant BRCA-EU 12 109504177 109504177 single base substitution G C upstream_gene_variant BRCA-EU 12 109508375 109508375 single base substitution G A intron_variant BRCA-EU 12 109509866 109509866 single base substitution C T intron_variant BRCA-EU 12 109510741 109510741 single base substitution C T downstream_gene_variant BRCA-EU 12 109510741 109510741 single base substitution C T intron_variant BRCA-EU 12 109511054 109511054 single base substitution G A downstream_gene_variant BRCA-EU 12 109511054 109511054 single base substitution G A intron_variant BRCA-EU 12 109513163 109513163 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 109513163 109513163 deletion of <=200bp T - intron_variant BRCA-EU 12 109513587 109513587 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 109513587 109513587 deletion of <=200bp T - intron_variant BRCA-EU 12 109513738 109513738 single base substitution C G downstream_gene_variant BRCA-EU 12 109513738 109513738 single base substitution C G intron_variant BRCA-EU 12 109515164 109515164 insertion of <=200bp - T intron_variant BRCA-EU 12 109515630 109515631 deletion of <=200bp TG - intron_variant BRCA-EU 12 109515630 109515631 deletion of <=200bp TG - upstream_gene_variant BRCA-EU 12 109516924 109516924 deletion of <=200bp T - intron_variant BRCA-EU 12 109516924 109516924 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 109518275 109518275 single base substitution A G intron_variant BRCA-EU 12 109518275 109518275 single base substitution A G upstream_gene_variant BRCA-EU 12 109519323 109519323 single base substitution C G exon_variant BRCA-EU 12 109519323 109519323 single base substitution C G intron_variant BRCA-EU 12 109519323 109519323 single base substitution C G upstream_gene_variant BRCA-EU 12 109519397 109519397 single base substitution T A exon_variant BRCA-EU 12 109519397 109519397 single base substitution T A intron_variant BRCA-EU 12 109519397 109519397 single base substitution T A upstream_gene_variant BRCA-EU 12 109523066 109523066 single base substitution A T downstream_gene_variant BRCA-EU 12 109523066 109523066 single base substitution A T intron_variant BRCA-EU 12 109526546 109526546 single base substitution G A downstream_gene_variant BRCA-EU 12 109526889 109526889 single base substitution G A downstream_gene_variant BRCA-EU 12 109528072 109528072 insertion of <=200bp - C downstream_gene_variant BRCA-EU 12 109528693 109528693 single base substitution A G downstream_gene_variant BRCA-EU 12 109530048 109530048 single base substitution G C downstream_gene_variant BRCA-EU 12 109530092 109530092 single base substitution C G downstream_gene_variant BRCA-EU 12 109530801 109530801 single base substitution G A downstream_gene_variant BRCA-FR 12 109461604 109461604 single base substitution A T intron_variant BRCA-FR 12 109464065 109464065 single base substitution G C intron_variant BRCA-FR 12 109466300 109466300 single base substitution G C intron_variant BRCA-FR 12 109468685 109468685 single base substitution C T intron_variant BRCA-FR 12 109468833 109468833 single base substitution C G intron_variant BRCA-FR 12 109474597 109474597 single base substitution G T intron_variant BRCA-FR 12 109486996 109486996 single base substitution C T intron_variant BRCA-FR 12 109486996 109486996 single base substitution C T upstream_gene_variant BRCA-FR 12 109487217 109487217 single base substitution A T intron_variant BRCA-FR 12 109487217 109487217 single base substitution A T upstream_gene_variant BRCA-FR 12 109510741 109510741 single base substitution C T downstream_gene_variant BRCA-FR 12 109510741 109510741 single base substitution C T intron_variant BRCA-FR 12 109530048 109530048 single base substitution G C downstream_gene_variant BRCA-FR 12 109530801 109530801 single base substitution G A downstream_gene_variant BRCA-UK 12 109482729 109482729 deletion of <=200bp A - intron_variant BRCA-UK 12 109485329 109485329 single base substitution C T intron_variant BRCA-UK 12 109502706 109502706 single base substitution G A intron_variant BRCA-UK 12 109502706 109502706 single base substitution G A upstream_gene_variant BRCA-US 12 109494574 109494574 single base substitution A G intron_variant BRCA-US 12 109494574 109494574 single base substitution A G synonymous_variant T26T 78A>G BRCA-US 12 109494574 109494574 single base substitution A G synonymous_variant T31T 93A>G BRCA-US 12 109494574 109494574 single base substitution A G synonymous_variant T57T 171A>G BRCA-US 12 109510140 109510140 single base substitution A C 3_prime_UTR_variant BRCA-US 12 109510140 109510140 single base substitution A C exon_variant BRCA-US 12 109510140 109510140 single base substitution A C missense_variant T143P 427A>C BRCA-US 12 109510140 109510140 single base substitution A C missense_variant T173P 517A>C BRCA-US 12 109510140 109510140 single base substitution A C missense_variant T204P 610A>C BRCA-US 12 109526219 109526219 single base substitution C G downstream_gene_variant BRCA-US 12 109530530 109530530 single base substitution T C downstream_gene_variant BTCA-JP 12 109490580 109490580 single base substitution G T intron_variant BTCA-JP 12 109490580 109490580 single base substitution G T upstream_gene_variant BTCA-JP 12 109509423 109509423 single base substitution C T 3_prime_UTR_variant BTCA-JP 12 109509423 109509423 single base substitution C T exon_variant BTCA-JP 12 109509423 109509423 single base substitution C T missense_variant H102Y 304C>T BTCA-JP 12 109509423 109509423 single base substitution C T missense_variant H132Y 394C>T BTCA-JP 12 109509423 109509423 single base substitution C T missense_variant H163Y 487C>T BTCA-JP 12 109522852 109522852 single base substitution C G downstream_gene_variant BTCA-JP 12 109522852 109522852 single base substitution C G exon_variant BTCA-JP 12 109522852 109522852 single base substitution C G missense_variant F390L 1170C>G BTCA-JP 12 109522852 109522852 single base substitution C G missense_variant F421L 1263C>G BTCA-JP 12 109522852 109522852 single base substitution C G upstream_gene_variant CESC-US 12 109505432 109505432 single base substitution G A splice_region_variant CLLE-ES 12 109487490 109487490 single base substitution C T intron_variant CLLE-ES 12 109487490 109487490 single base substitution C T upstream_gene_variant CLLE-ES 12 109487650 109487650 single base substitution A C intron_variant CLLE-ES 12 109487650 109487650 single base substitution A C upstream_gene_variant COAD-US 12 109519149 109519149 single base substitution G A 3_prime_UTR_variant COAD-US 12 109519149 109519149 single base substitution G A exon_variant COAD-US 12 109519149 109519149 single base substitution G A missense_variant R213Q 638G>A COAD-US 12 109519149 109519149 single base substitution G A missense_variant R244Q 731G>A COAD-US 12 109519149 109519149 single base substitution G A upstream_gene_variant COAD-US 12 109520484 109520484 single base substitution C T 3_prime_UTR_variant COAD-US 12 109520484 109520484 single base substitution C T downstream_gene_variant COAD-US 12 109520484 109520484 single base substitution C T exon_variant COAD-US 12 109520484 109520484 single base substitution C T missense_variant T264M 791C>T COAD-US 12 109520484 109520484 single base substitution C T missense_variant T295M 884C>T COAD-US 12 109520484 109520484 single base substitution C T upstream_gene_variant COCA-CN 12 109458588 109458588 single base substitution G A upstream_gene_variant COCA-CN 12 109494652 109494652 single base substitution C T intron_variant COCA-CN 12 109511416 109511416 single base substitution G T downstream_gene_variant COCA-CN 12 109511416 109511416 single base substitution G T intron_variant COCA-CN 12 109520704 109520704 single base substitution G A 3_prime_UTR_variant COCA-CN 12 109520704 109520704 single base substitution G A downstream_gene_variant COCA-CN 12 109520704 109520704 single base substitution G A exon_variant COCA-CN 12 109520704 109520704 single base substitution G A synonymous_variant T304T 912G>A COCA-CN 12 109520704 109520704 single base substitution G A synonymous_variant T335T 1005G>A COCA-CN 12 109520704 109520704 single base substitution G A upstream_gene_variant COCA-CN 12 109520831 109520831 single base substitution C T downstream_gene_variant COCA-CN 12 109520831 109520831 single base substitution C T exon_variant COCA-CN 12 109520831 109520831 single base substitution C T synonymous_variant L347L 1039C>T COCA-CN 12 109520831 109520831 single base substitution C T synonymous_variant L378L 1132C>T COCA-CN 12 109520831 109520831 single base substitution C T upstream_gene_variant ESAD-UK 12 109456087 109456087 single base substitution C T upstream_gene_variant ESAD-UK 12 109457095 109457095 deletion of <=200bp T - upstream_gene_variant ESAD-UK 12 109457299 109457299 single base substitution T A upstream_gene_variant ESAD-UK 12 109458699 109458699 single base substitution T C upstream_gene_variant ESAD-UK 12 109459078 109459078 single base substitution G A upstream_gene_variant ESAD-UK 12 109459156 109459156 single base substitution G A upstream_gene_variant ESAD-UK 12 109462418 109462418 single base substitution G A intron_variant ESAD-UK 12 109464363 109464363 single base substitution C G intron_variant ESAD-UK 12 109464722 109464722 single base substitution A G intron_variant ESAD-UK 12 109466270 109466270 insertion of <=200bp - T intron_variant ESAD-UK 12 109466366 109466366 single base substitution T A intron_variant ESAD-UK 12 109468575 109468575 single base substitution C A intron_variant ESAD-UK 12 109468855 109468855 single base substitution C A intron_variant ESAD-UK 12 109472615 109472615 single base substitution G A intron_variant ESAD-UK 12 109473067 109473067 single base substitution T C intron_variant ESAD-UK 12 109473815 109473815 single base substitution A C intron_variant ESAD-UK 12 109474951 109474951 single base substitution A G intron_variant ESAD-UK 12 109474985 109474985 single base substitution T C intron_variant ESAD-UK 12 109475342 109475342 single base substitution C G intron_variant ESAD-UK 12 109476310 109476310 deletion of <=200bp T - intron_variant ESAD-UK 12 109477017 109477017 single base substitution A C intron_variant ESAD-UK 12 109477051 109477051 single base substitution T C intron_variant ESAD-UK 12 109477846 109477846 single base substitution T G intron_variant ESAD-UK 12 109478556 109478556 single base substitution A T intron_variant ESAD-UK 12 109479209 109479209 single base substitution A G intron_variant ESAD-UK 12 109480302 109480302 single base substitution C T intron_variant ESAD-UK 12 109481242 109481242 single base substitution C G intron_variant ESAD-UK 12 109481940 109481940 single base substitution T G intron_variant ESAD-UK 12 109482951 109482951 single base substitution T G intron_variant ESAD-UK 12 109483993 109483993 single base substitution C T intron_variant ESAD-UK 12 109484111 109484111 single base substitution C T intron_variant ESAD-UK 12 109486255 109486255 single base substitution G A intron_variant ESAD-UK 12 109486255 109486255 single base substitution G A upstream_gene_variant ESAD-UK 12 109488638 109488638 single base substitution C T intron_variant ESAD-UK 12 109488638 109488638 single base substitution C T upstream_gene_variant ESAD-UK 12 109489780 109489780 single base substitution G A intron_variant ESAD-UK 12 109489780 109489780 single base substitution G A upstream_gene_variant ESAD-UK 12 109490473 109490473 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 12 109490473 109490473 single base substitution G T intron_variant ESAD-UK 12 109490473 109490473 single base substitution G T upstream_gene_variant ESAD-UK 12 109492821 109492822 deletion of <=200bp AC - intron_variant ESAD-UK 12 109493631 109493631 single base substitution A G intron_variant ESAD-UK 12 109496656 109496656 single base substitution T C downstream_gene_variant ESAD-UK 12 109496656 109496656 single base substitution T C intron_variant ESAD-UK 12 109497186 109497186 single base substitution A T downstream_gene_variant ESAD-UK 12 109497186 109497186 single base substitution A T intron_variant ESAD-UK 12 109497800 109497800 single base substitution T C downstream_gene_variant ESAD-UK 12 109497800 109497800 single base substitution T C intron_variant ESAD-UK 12 109498204 109498204 single base substitution G A downstream_gene_variant ESAD-UK 12 109498204 109498204 single base substitution G A intron_variant ESAD-UK 12 109500437 109500437 single base substitution T C downstream_gene_variant ESAD-UK 12 109500437 109500437 single base substitution T C intron_variant ESAD-UK 12 109500437 109500437 single base substitution T C upstream_gene_variant ESAD-UK 12 109504397 109504397 single base substitution G A intron_variant ESAD-UK 12 109504397 109504397 single base substitution G A upstream_gene_variant ESAD-UK 12 109505975 109505975 single base substitution C T intron_variant ESAD-UK 12 109507206 109507206 single base substitution G A intron_variant ESAD-UK 12 109508583 109508583 single base substitution G A intron_variant ESAD-UK 12 109510087 109510087 single base substitution T G intron_variant ESAD-UK 12 109513587 109513587 deletion of <=200bp T - downstream_gene_variant ESAD-UK 12 109513587 109513587 deletion of <=200bp T - intron_variant ESAD-UK 12 109518945 109518945 single base substitution T C intron_variant ESAD-UK 12 109518945 109518945 single base substitution T C upstream_gene_variant ESAD-UK 12 109519370 109519370 single base substitution A T exon_variant ESAD-UK 12 109519370 109519370 single base substitution A T intron_variant ESAD-UK 12 109519370 109519370 single base substitution A T upstream_gene_variant ESAD-UK 12 109519373 109519373 single base substitution G A exon_variant ESAD-UK 12 109519373 109519373 single base substitution G A intron_variant ESAD-UK 12 109519373 109519373 single base substitution G A upstream_gene_variant ESAD-UK 12 109520401 109520401 single base substitution G T downstream_gene_variant ESAD-UK 12 109520401 109520401 single base substitution G T exon_variant ESAD-UK 12 109520401 109520401 single base substitution G T intron_variant ESAD-UK 12 109520401 109520401 single base substitution G T upstream_gene_variant ESAD-UK 12 109520876 109520876 single base substitution G A downstream_gene_variant ESAD-UK 12 109520876 109520876 single base substitution G A intron_variant ESAD-UK 12 109520876 109520876 single base substitution G A upstream_gene_variant ESAD-UK 12 109522739 109522739 single base substitution G C downstream_gene_variant ESAD-UK 12 109522739 109522739 single base substitution G C intron_variant ESAD-UK 12 109522739 109522739 single base substitution G C upstream_gene_variant ESAD-UK 12 109526491 109526491 single base substitution A G downstream_gene_variant ESAD-UK 12 109527179 109527179 single base substitution C G downstream_gene_variant ESAD-UK 12 109528072 109528072 insertion of <=200bp - C downstream_gene_variant ESCA-CN 12 109458569 109458569 single base substitution A C upstream_gene_variant ESCA-CN 12 109458576 109458576 single base substitution T C upstream_gene_variant ESCA-CN 12 109505541 109505541 single base substitution G C intron_variant ESCA-CN 12 109510086 109510086 insertion of <=200bp - T intron_variant ESCA-CN 12 109519795 109519795 single base substitution C T 3_prime_UTR_variant ESCA-CN 12 109519795 109519795 single base substitution C T downstream_gene_variant ESCA-CN 12 109519795 109519795 single base substitution C T missense_variant R249W 745C>T ESCA-CN 12 109519795 109519795 single base substitution C T missense_variant R280W 838C>T ESCA-CN 12 109519795 109519795 single base substitution C T upstream_gene_variant ESCA-CN 12 109523683 109523683 single base substitution C T downstream_gene_variant ESCA-CN 12 109523683 109523683 single base substitution C T exon_variant ESCA-CN 12 109523683 109523683 single base substitution C T missense_variant R470C 1408C>T ESCA-CN 12 109523683 109523683 single base substitution C T missense_variant R501C 1501C>T GACA-CN 12 109495861 109495861 single base substitution G C intron_variant GACA-CN 12 109495861 109495861 single base substitution G C missense_variant K108N 324G>C GACA-CN 12 109495861 109495861 single base substitution G C missense_variant K77N 231G>C GACA-CN 12 109495861 109495861 single base substitution G C missense_variant K82N 246G>C GBM-US 12 109495849 109495849 single base substitution C A intron_variant GBM-US 12 109495849 109495849 single base substitution C A synonymous_variant S104S 312C>A GBM-US 12 109495849 109495849 single base substitution C A synonymous_variant S73S 219C>A GBM-US 12 109495849 109495849 single base substitution C A synonymous_variant S78S 234C>A GBM-US 12 109509449 109509449 single base substitution G A 3_prime_UTR_variant GBM-US 12 109509449 109509449 single base substitution G A exon_variant GBM-US 12 109509449 109509449 single base substitution G A synonymous_variant S110S 330G>A GBM-US 12 109509449 109509449 single base substitution G A synonymous_variant S140S 420G>A GBM-US 12 109509449 109509449 single base substitution G A synonymous_variant S171S 513G>A KIRC-US 12 109530325 109530325 single base substitution T A downstream_gene_variant KIRC-US 12 109530381 109530381 single base substitution C T downstream_gene_variant KIRP-US 12 109490532 109490532 single base substitution A T 5_prime_UTR_variant KIRP-US 12 109490532 109490532 single base substitution A T exon_variant KIRP-US 12 109490532 109490532 single base substitution A T intron_variant KIRP-US 12 109490532 109490532 single base substitution A T missense_variant I17F 49A>T KIRP-US 12 109490532 109490532 single base substitution A T upstream_gene_variant LAML-KR 12 109464101 109464101 single base substitution G A intron_variant LAML-KR 12 109519189 109519189 single base substitution C T 3_prime_UTR_variant LAML-KR 12 109519189 109519189 single base substitution C T exon_variant LAML-KR 12 109519189 109519189 single base substitution C T synonymous_variant A226A 678C>T LAML-KR 12 109519189 109519189 single base substitution C T synonymous_variant A257A 771C>T LAML-KR 12 109519189 109519189 single base substitution C T upstream_gene_variant LGG-US 12 109519737 109519737 single base substitution G A downstream_gene_variant LGG-US 12 109519737 109519737 single base substitution G A splice_acceptor_variant LGG-US 12 109519737 109519737 single base substitution G A upstream_gene_variant LICA-CN 12 109494547 109494547 single base substitution A T intron_variant LICA-CN 12 109494547 109494547 single base substitution A T synonymous_variant G17G 51A>T LICA-CN 12 109494547 109494547 single base substitution A T synonymous_variant G22G 66A>T LICA-CN 12 109494547 109494547 single base substitution A T synonymous_variant G48G 144A>T LICA-FR 12 109455896 109455896 insertion of <=200bp - TGAAAGAATGGA upstream_gene_variant LICA-FR 12 109465358 109465358 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 12 109470567 109470567 single base substitution A G intron_variant LICA-FR 12 109504053 109504053 deletion of <=200bp A - intron_variant LICA-FR 12 109504053 109504053 deletion of <=200bp A - upstream_gene_variant LICA-FR 12 109511319 109511344 deletion of <=200bp CAAACACTGTGAACACCAGGTAAATA - downstream_gene_variant LICA-FR 12 109511319 109511344 deletion of <=200bp CAAACACTGTGAACACCAGGTAAATA - frameshift_variant CKHCEHQ203 LICA-FR 12 109511319 109511344 deletion of <=200bp CAAACACTGTGAACACCAGGTAAATA - frameshift_variant CKHCEHQ234 LICA-FR 12 109511319 109511344 deletion of <=200bp CAAACACTGTGAACACCAGGTAAATA - splice_donor_variant LICA-FR 12 109520699 109520699 single base substitution G T 3_prime_UTR_variant LICA-FR 12 109520699 109520699 single base substitution G T downstream_gene_variant LICA-FR 12 109520699 109520699 single base substitution G T exon_variant LICA-FR 12 109520699 109520699 single base substitution G T missense_variant G303C 907G>T LICA-FR 12 109520699 109520699 single base substitution G T missense_variant G334C 1000G>T LICA-FR 12 109520699 109520699 single base substitution G T upstream_gene_variant LICA-FR 12 109526120 109526120 single base substitution A G downstream_gene_variant LIHC-US 12 109519740 109519740 single base substitution T C downstream_gene_variant LIHC-US 12 109519740 109519740 single base substitution T C splice_region_variant LIHC-US 12 109519740 109519740 single base substitution T C upstream_gene_variant LIHC-US 12 109526088 109526088 single base substitution T G downstream_gene_variant LINC-JP 12 109462632 109462632 single base substitution G A 5_prime_UTR_variant LINC-JP 12 109463364 109463364 single base substitution A T intron_variant LINC-JP 12 109466171 109466171 single base substitution C G intron_variant LINC-JP 12 109476957 109476957 single base substitution T C intron_variant LINC-JP 12 109484986 109484986 single base substitution T A intron_variant LINC-JP 12 109485477 109485477 single base substitution T C 5_prime_UTR_variant LINC-JP 12 109485477 109485477 single base substitution T C upstream_gene_variant LINC-JP 12 109503791 109503791 single base substitution T G intron_variant LINC-JP 12 109503791 109503791 single base substitution T G upstream_gene_variant LINC-JP 12 109509704 109509704 single base substitution G T intron_variant LINC-JP 12 109514229 109514229 single base substitution T C downstream_gene_variant LINC-JP 12 109514229 109514229 single base substitution T C intron_variant LINC-JP 12 109519365 109519365 single base substitution A C exon_variant LINC-JP 12 109519365 109519365 single base substitution A C intron_variant LINC-JP 12 109519365 109519365 single base substitution A C upstream_gene_variant LINC-JP 12 109520921 109520921 single base substitution A T downstream_gene_variant LINC-JP 12 109520921 109520921 single base substitution A T intron_variant LINC-JP 12 109520921 109520921 single base substitution A T upstream_gene_variant LINC-JP 12 109523587 109523587 single base substitution A C downstream_gene_variant LINC-JP 12 109523587 109523587 single base substitution A C exon_variant LINC-JP 12 109523587 109523587 single base substitution A C missense_variant T438P 1312A>C LINC-JP 12 109523587 109523587 single base substitution A C missense_variant T469P 1405A>C LIRI-JP 12 109458165 109458165 single base substitution C T upstream_gene_variant LIRI-JP 12 109458651 109458651 single base substitution A C upstream_gene_variant LIRI-JP 12 109460118 109460118 single base substitution G A upstream_gene_variant LIRI-JP 12 109461568 109461568 single base substitution C G intron_variant LIRI-JP 12 109463002 109463002 single base substitution A G intron_variant LIRI-JP 12 109463596 109463596 single base substitution G A intron_variant LIRI-JP 12 109464560 109464560 single base substitution A T intron_variant LIRI-JP 12 109465967 109465967 single base substitution T C intron_variant LIRI-JP 12 109466810 109466810 single base substitution C T intron_variant LIRI-JP 12 109469429 109469429 single base substitution T G intron_variant LIRI-JP 12 109469736 109469736 single base substitution T C intron_variant LIRI-JP 12 109470136 109470136 single base substitution T C intron_variant LIRI-JP 12 109472687 109472687 single base substitution T C intron_variant LIRI-JP 12 109473456 109473456 single base substitution C T intron_variant LIRI-JP 12 109474023 109474023 single base substitution G T intron_variant LIRI-JP 12 109475065 109475065 single base substitution T C intron_variant LIRI-JP 12 109477780 109477780 single base substitution T C intron_variant LIRI-JP 12 109477860 109477860 single base substitution A G intron_variant LIRI-JP 12 109478980 109478980 single base substitution A G intron_variant LIRI-JP 12 109480661 109480661 single base substitution A G intron_variant LIRI-JP 12 109480945 109480945 single base substitution G T intron_variant LIRI-JP 12 109484626 109484626 single base substitution C T intron_variant LIRI-JP 12 109484853 109484853 single base substitution A C intron_variant LIRI-JP 12 109486190 109486190 single base substitution C T intron_variant LIRI-JP 12 109486190 109486190 single base substitution C T upstream_gene_variant LIRI-JP 12 109488075 109488075 single base substitution G A intron_variant LIRI-JP 12 109488075 109488075 single base substitution G A upstream_gene_variant LIRI-JP 12 109488076 109488076 single base substitution G A intron_variant LIRI-JP 12 109488076 109488076 single base substitution G A upstream_gene_variant LIRI-JP 12 109488996 109488996 single base substitution A G intron_variant LIRI-JP 12 109488996 109488996 single base substitution A G upstream_gene_variant LIRI-JP 12 109493113 109493113 single base substitution C A intron_variant LIRI-JP 12 109497095 109497095 single base substitution G T downstream_gene_variant LIRI-JP 12 109497095 109497095 single base substitution G T intron_variant LIRI-JP 12 109503586 109503586 single base substitution G A intron_variant LIRI-JP 12 109503586 109503586 single base substitution G A upstream_gene_variant LIRI-JP 12 109509697 109509697 single base substitution T C intron_variant LIRI-JP 12 109509707 109509707 single base substitution C T intron_variant LIRI-JP 12 109510301 109510301 single base substitution A G downstream_gene_variant LIRI-JP 12 109510301 109510301 single base substitution A G intron_variant LIRI-JP 12 109510317 109510317 single base substitution A G downstream_gene_variant LIRI-JP 12 109510317 109510317 single base substitution A G intron_variant LIRI-JP 12 109510815 109510815 single base substitution T C downstream_gene_variant LIRI-JP 12 109510815 109510815 single base substitution T C intron_variant LIRI-JP 12 109511870 109511870 single base substitution A G downstream_gene_variant LIRI-JP 12 109511870 109511870 single base substitution A G intron_variant LIRI-JP 12 109512377 109512377 single base substitution T G downstream_gene_variant LIRI-JP 12 109512377 109512377 single base substitution T G intron_variant LIRI-JP 12 109513469 109513469 single base substitution T G downstream_gene_variant LIRI-JP 12 109513469 109513469 single base substitution T G intron_variant LIRI-JP 12 109514128 109514128 single base substitution C T downstream_gene_variant LIRI-JP 12 109514128 109514128 single base substitution C T intron_variant LIRI-JP 12 109515648 109515648 single base substitution G C intron_variant LIRI-JP 12 109515648 109515648 single base substitution G C upstream_gene_variant LIRI-JP 12 109517300 109517300 single base substitution C G intron_variant LIRI-JP 12 109517300 109517300 single base substitution C G upstream_gene_variant LIRI-JP 12 109517741 109517741 single base substitution C T intron_variant LIRI-JP 12 109517741 109517741 single base substitution C T upstream_gene_variant LIRI-JP 12 109517948 109517948 single base substitution C G intron_variant LIRI-JP 12 109517948 109517948 single base substitution C G upstream_gene_variant LIRI-JP 12 109520820 109520820 single base substitution C T downstream_gene_variant LIRI-JP 12 109520820 109520820 single base substitution C T exon_variant LIRI-JP 12 109520820 109520820 single base substitution C T missense_variant P343L 1028C>T LIRI-JP 12 109520820 109520820 single base substitution C T missense_variant P374L 1121C>T LIRI-JP 12 109520820 109520820 single base substitution C T upstream_gene_variant LIRI-JP 12 109521954 109521954 single base substitution A T downstream_gene_variant LIRI-JP 12 109521954 109521954 single base substitution A T intron_variant LIRI-JP 12 109521954 109521954 single base substitution A T upstream_gene_variant LIRI-JP 12 109522350 109522350 single base substitution T G downstream_gene_variant LIRI-JP 12 109522350 109522350 single base substitution T G intron_variant LIRI-JP 12 109522350 109522350 single base substitution T G upstream_gene_variant LIRI-JP 12 109523102 109523102 single base substitution G A downstream_gene_variant LIRI-JP 12 109523102 109523102 single base substitution G A intron_variant LIRI-JP 12 109523110 109523110 single base substitution G T downstream_gene_variant LIRI-JP 12 109523110 109523110 single base substitution G T intron_variant LIRI-JP 12 109524070 109524070 single base substitution G T 3_prime_UTR_variant LIRI-JP 12 109524070 109524070 single base substitution G T downstream_gene_variant LIRI-JP 12 109524070 109524070 single base substitution G T exon_variant LIRI-JP 12 109524324 109524324 single base substitution C A 3_prime_UTR_variant LIRI-JP 12 109524324 109524324 single base substitution C A downstream_gene_variant LIRI-JP 12 109524324 109524324 single base substitution C A exon_variant LIRI-JP 12 109524625 109524625 single base substitution A T 3_prime_UTR_variant LIRI-JP 12 109524625 109524625 single base substitution A T downstream_gene_variant LIRI-JP 12 109524625 109524625 single base substitution A T exon_variant LIRI-JP 12 109525488 109525488 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 109525488 109525488 single base substitution A G downstream_gene_variant LIRI-JP 12 109525488 109525488 single base substitution A G exon_variant LIRI-JP 12 109526665 109526665 single base substitution A G downstream_gene_variant LIRI-JP 12 109528804 109528804 single base substitution A G downstream_gene_variant LUSC-KR 12 109456212 109456212 single base substitution C A upstream_gene_variant LUSC-KR 12 109456534 109456534 single base substitution G T upstream_gene_variant LUSC-KR 12 109458397 109458397 single base substitution C A upstream_gene_variant LUSC-KR 12 109459670 109459670 single base substitution T C upstream_gene_variant LUSC-KR 12 109462805 109462805 single base substitution G T 5_prime_UTR_variant LUSC-KR 12 109468461 109468461 single base substitution C A intron_variant LUSC-KR 12 109471420 109471420 single base substitution C A intron_variant LUSC-KR 12 109471663 109471663 single base substitution C G intron_variant LUSC-KR 12 109472284 109472284 single base substitution C T intron_variant LUSC-KR 12 109473276 109473276 single base substitution C T intron_variant LUSC-KR 12 109473991 109473991 single base substitution C G intron_variant LUSC-KR 12 109474136 109474136 single base substitution C T intron_variant LUSC-KR 12 109474455 109474455 single base substitution G T intron_variant LUSC-KR 12 109475640 109475640 single base substitution C T intron_variant LUSC-KR 12 109476442 109476442 single base substitution A G intron_variant LUSC-KR 12 109477249 109477249 single base substitution C A intron_variant LUSC-KR 12 109483777 109483777 single base substitution C G intron_variant LUSC-KR 12 109484629 109484629 single base substitution G A intron_variant LUSC-KR 12 109484836 109484836 single base substitution G C intron_variant LUSC-KR 12 109485300 109485300 single base substitution G T intron_variant LUSC-KR 12 109485837 109485837 single base substitution A T intron_variant LUSC-KR 12 109485837 109485837 single base substitution A T upstream_gene_variant LUSC-KR 12 109489470 109489470 single base substitution G C intron_variant LUSC-KR 12 109489470 109489470 single base substitution G C upstream_gene_variant LUSC-KR 12 109499215 109499215 single base substitution A T downstream_gene_variant LUSC-KR 12 109499215 109499215 single base substitution A T intron_variant LUSC-KR 12 109504118 109504118 single base substitution A T intron_variant LUSC-KR 12 109504118 109504118 single base substitution A T upstream_gene_variant LUSC-KR 12 109504962 109504962 single base substitution A T intron_variant LUSC-KR 12 109504962 109504962 single base substitution A T upstream_gene_variant LUSC-KR 12 109509925 109509925 single base substitution G A intron_variant LUSC-KR 12 109514555 109514555 single base substitution G T downstream_gene_variant LUSC-KR 12 109514555 109514555 single base substitution G T intron_variant LUSC-KR 12 109514662 109514662 single base substitution G A downstream_gene_variant LUSC-KR 12 109514662 109514662 single base substitution G A intron_variant LUSC-KR 12 109519189 109519189 single base substitution C T 3_prime_UTR_variant LUSC-KR 12 109519189 109519189 single base substitution C T exon_variant LUSC-KR 12 109519189 109519189 single base substitution C T synonymous_variant A226A 678C>T LUSC-KR 12 109519189 109519189 single base substitution C T synonymous_variant A257A 771C>T LUSC-KR 12 109519189 109519189 single base substitution C T upstream_gene_variant LUSC-KR 12 109522612 109522612 single base substitution T G downstream_gene_variant LUSC-KR 12 109522612 109522612 single base substitution T G intron_variant LUSC-KR 12 109522612 109522612 single base substitution T G upstream_gene_variant LUSC-KR 12 109524232 109524232 single base substitution A G 3_prime_UTR_variant LUSC-KR 12 109524232 109524232 single base substitution A G downstream_gene_variant LUSC-KR 12 109524232 109524232 single base substitution A G exon_variant LUSC-KR 12 109528583 109528583 single base substitution T A downstream_gene_variant LUSC-US 12 109510129 109510129 single base substitution C G 3_prime_UTR_variant LUSC-US 12 109510129 109510129 single base substitution C G exon_variant LUSC-US 12 109510129 109510129 single base substitution C G missense_variant P139R 416C>G LUSC-US 12 109510129 109510129 single base substitution C G missense_variant P169R 506C>G LUSC-US 12 109510129 109510129 single base substitution C G missense_variant P200R 599C>G LUSC-US 12 109520495 109520495 single base substitution G T 3_prime_UTR_variant LUSC-US 12 109520495 109520495 single base substitution G T downstream_gene_variant LUSC-US 12 109520495 109520495 single base substitution G T exon_variant LUSC-US 12 109520495 109520495 single base substitution G T stop_gained E268* 802G>T LUSC-US 12 109520495 109520495 single base substitution G T stop_gained E299* 895G>T LUSC-US 12 109520495 109520495 single base substitution G T upstream_gene_variant LUSC-US 12 109520498 109520498 single base substitution A G 3_prime_UTR_variant LUSC-US 12 109520498 109520498 single base substitution A G downstream_gene_variant LUSC-US 12 109520498 109520498 single base substitution A G exon_variant LUSC-US 12 109520498 109520498 single base substitution A G missense_variant K269E 805A>G LUSC-US 12 109520498 109520498 single base substitution A G missense_variant K300E 898A>G LUSC-US 12 109520498 109520498 single base substitution A G upstream_gene_variant LUSC-US 12 109520716 109520716 single base substitution G A 3_prime_UTR_variant LUSC-US 12 109520716 109520716 single base substitution G A downstream_gene_variant LUSC-US 12 109520716 109520716 single base substitution G A exon_variant LUSC-US 12 109520716 109520716 single base substitution G A synonymous_variant R308R 924G>A LUSC-US 12 109520716 109520716 single base substitution G A synonymous_variant R339R 1017G>A LUSC-US 12 109520716 109520716 single base substitution G A upstream_gene_variant LUSC-US 12 109523484 109523484 single base substitution C T downstream_gene_variant LUSC-US 12 109523484 109523484 single base substitution C T exon_variant LUSC-US 12 109523484 109523484 single base substitution C T synonymous_variant Y403Y 1209C>T LUSC-US 12 109523484 109523484 single base substitution C T synonymous_variant Y434Y 1302C>T MALY-DE 12 109459313 109459313 single base substitution A T upstream_gene_variant MALY-DE 12 109463008 109463008 single base substitution G A intron_variant MALY-DE 12 109469953 109469953 single base substitution A T intron_variant MALY-DE 12 109477981 109477981 insertion of <=200bp - A intron_variant MALY-DE 12 109482652 109482652 single base substitution C T intron_variant MALY-DE 12 109491776 109491776 single base substitution T C 5_prime_UTR_variant MALY-DE 12 109491776 109491776 single base substitution T C intron_variant MALY-DE 12 109492618 109492618 single base substitution A C intron_variant MALY-DE 12 109492748 109492748 single base substitution A G intron_variant MALY-DE 12 109494343 109494343 single base substitution A G intron_variant MALY-DE 12 109500081 109500081 single base substitution A G downstream_gene_variant MALY-DE 12 109500081 109500081 single base substitution A G intron_variant MALY-DE 12 109513223 109513223 single base substitution T G downstream_gene_variant MALY-DE 12 109513223 109513223 single base substitution T G intron_variant MALY-DE 12 109521048 109521048 single base substitution T G downstream_gene_variant MALY-DE 12 109521048 109521048 single base substitution T G intron_variant MALY-DE 12 109521048 109521048 single base substitution T G upstream_gene_variant MALY-DE 12 109530279 109530280 deletion of <=200bp CA - downstream_gene_variant MELA-AU 12 109456275 109456275 single base substitution G A upstream_gene_variant MELA-AU 12 109456712 109456712 single base substitution G A upstream_gene_variant MELA-AU 12 109456743 109456743 single base substitution G A upstream_gene_variant MELA-AU 12 109457074 109457074 single base substitution G A upstream_gene_variant MELA-AU 12 109457256 109457256 single base substitution C T upstream_gene_variant MELA-AU 12 109457559 109457559 single base substitution G A upstream_gene_variant MELA-AU 12 109457659 109457659 single base substitution G A upstream_gene_variant MELA-AU 12 109457741 109457741 single base substitution C T upstream_gene_variant MELA-AU 12 109457761 109457761 single base substitution G A upstream_gene_variant MELA-AU 12 109457893 109457893 single base substitution G A upstream_gene_variant MELA-AU 12 109457913 109457913 single base substitution C G upstream_gene_variant MELA-AU 12 109457935 109457935 single base substitution G A upstream_gene_variant MELA-AU 12 109458153 109458154 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 109458946 109458946 single base substitution G A upstream_gene_variant MELA-AU 12 109459812 109459812 single base substitution C T upstream_gene_variant MELA-AU 12 109460043 109460043 single base substitution A G upstream_gene_variant MELA-AU 12 109460141 109460141 single base substitution A T upstream_gene_variant MELA-AU 12 109460262 109460262 single base substitution G A upstream_gene_variant MELA-AU 12 109460299 109460299 single base substitution C T upstream_gene_variant MELA-AU 12 109460337 109460337 single base substitution A G upstream_gene_variant MELA-AU 12 109460357 109460357 single base substitution G A upstream_gene_variant MELA-AU 12 109460366 109460366 single base substitution C T upstream_gene_variant MELA-AU 12 109460921 109460921 single base substitution G A 5_prime_UTR_variant MELA-AU 12 109460954 109460954 single base substitution G A 5_prime_UTR_variant MELA-AU 12 109460997 109460997 single base substitution C T intron_variant MELA-AU 12 109461100 109461100 single base substitution A G intron_variant MELA-AU 12 109461314 109461314 single base substitution C T intron_variant MELA-AU 12 109461398 109461398 single base substitution C T intron_variant MELA-AU 12 109461573 109461573 single base substitution G A intron_variant MELA-AU 12 109461723 109461723 single base substitution C T intron_variant MELA-AU 12 109461767 109461767 single base substitution G A intron_variant MELA-AU 12 109461781 109461781 single base substitution C T intron_variant MELA-AU 12 109461790 109461790 single base substitution G A intron_variant MELA-AU 12 109461859 109461859 single base substitution C T intron_variant MELA-AU 12 109461889 109461889 single base substitution C T intron_variant MELA-AU 12 109462108 109462108 single base substitution G A intron_variant MELA-AU 12 109462187 109462187 single base substitution C T intron_variant MELA-AU 12 109462259 109462259 single base substitution C T intron_variant MELA-AU 12 109462333 109462333 single base substitution G A intron_variant MELA-AU 12 109462390 109462390 single base substitution G A intron_variant MELA-AU 12 109462459 109462459 single base substitution C T intron_variant MELA-AU 12 109462521 109462521 single base substitution T C intron_variant MELA-AU 12 109462659 109462659 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 109462682 109462682 single base substitution C T 5_prime_UTR_variant MELA-AU 12 109462754 109462754 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 109462859 109462859 single base substitution G A 5_prime_UTR_variant MELA-AU 12 109462896 109462896 single base substitution C T intron_variant MELA-AU 12 109462980 109462980 single base substitution C T intron_variant MELA-AU 12 109462981 109462981 single base substitution C T intron_variant MELA-AU 12 109463051 109463051 single base substitution G A intron_variant MELA-AU 12 109463087 109463087 single base substitution C T intron_variant MELA-AU 12 109463089 109463089 single base substitution C T intron_variant MELA-AU 12 109463091 109463091 single base substitution G A intron_variant MELA-AU 12 109463243 109463243 single base substitution C T intron_variant MELA-AU 12 109463265 109463265 single base substitution C T intron_variant MELA-AU 12 109463399 109463399 single base substitution C T intron_variant MELA-AU 12 109463694 109463694 single base substitution C T intron_variant MELA-AU 12 109464194 109464194 single base substitution A G intron_variant MELA-AU 12 109464331 109464331 single base substitution C T intron_variant MELA-AU 12 109464355 109464355 single base substitution C T intron_variant MELA-AU 12 109464570 109464570 single base substitution G A intron_variant MELA-AU 12 109464772 109464772 single base substitution C T intron_variant MELA-AU 12 109464806 109464806 single base substitution C T intron_variant MELA-AU 12 109464832 109464832 single base substitution C T intron_variant MELA-AU 12 109465184 109465184 single base substitution C T intron_variant MELA-AU 12 109465304 109465304 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 109465328 109465328 single base substitution C T 5_prime_UTR_variant MELA-AU 12 109465438 109465438 single base substitution G A intron_variant MELA-AU 12 109465516 109465516 single base substitution A G intron_variant MELA-AU 12 109465864 109465864 single base substitution G A intron_variant MELA-AU 12 109465947 109465947 single base substitution T C intron_variant MELA-AU 12 109466084 109466084 single base substitution G A intron_variant MELA-AU 12 109466153 109466153 single base substitution G A intron_variant MELA-AU 12 109466243 109466243 single base substitution G A intron_variant MELA-AU 12 109466559 109466559 single base substitution G A intron_variant MELA-AU 12 109466652 109466652 single base substitution C T intron_variant MELA-AU 12 109466721 109466721 single base substitution T G intron_variant MELA-AU 12 109466870 109466870 single base substitution G A intron_variant MELA-AU 12 109467326 109467326 single base substitution G A intron_variant MELA-AU 12 109467422 109467422 single base substitution C T intron_variant MELA-AU 12 109467496 109467496 single base substitution C T intron_variant MELA-AU 12 109467565 109467565 single base substitution C T intron_variant MELA-AU 12 109467571 109467571 single base substitution C T intron_variant MELA-AU 12 109467809 109467809 single base substitution C T intron_variant MELA-AU 12 109468052 109468052 single base substitution C T intron_variant MELA-AU 12 109468053 109468053 single base substitution C T intron_variant MELA-AU 12 109468120 109468120 single base substitution G A intron_variant MELA-AU 12 109468246 109468246 single base substitution G A intron_variant MELA-AU 12 109468287 109468287 single base substitution C A intron_variant MELA-AU 12 109468310 109468310 single base substitution C T intron_variant MELA-AU 12 109468332 109468332 single base substitution G A intron_variant MELA-AU 12 109468411 109468411 single base substitution G A intron_variant MELA-AU 12 109468416 109468416 single base substitution T G intron_variant MELA-AU 12 109468681 109468681 single base substitution A T intron_variant MELA-AU 12 109468712 109468712 single base substitution C T intron_variant MELA-AU 12 109469131 109469131 single base substitution C T intron_variant MELA-AU 12 109469173 109469173 single base substitution C T intron_variant MELA-AU 12 109469497 109469497 single base substitution G T intron_variant MELA-AU 12 109469790 109469790 single base substitution C T intron_variant MELA-AU 12 109469811 109469811 single base substitution G A intron_variant MELA-AU 12 109469833 109469833 single base substitution G A intron_variant MELA-AU 12 109469922 109469922 single base substitution G A intron_variant MELA-AU 12 109470036 109470036 single base substitution G A intron_variant MELA-AU 12 109470271 109470271 single base substitution A T intron_variant MELA-AU 12 109470404 109470404 single base substitution G A intron_variant MELA-AU 12 109470445 109470445 single base substitution G A intron_variant MELA-AU 12 109470556 109470556 single base substitution G A intron_variant MELA-AU 12 109470697 109470697 single base substitution G A intron_variant MELA-AU 12 109470704 109470704 single base substitution C T intron_variant MELA-AU 12 109470839 109470839 single base substitution C T intron_variant MELA-AU 12 109470934 109470934 single base substitution G A intron_variant MELA-AU 12 109471062 109471062 single base substitution C T intron_variant MELA-AU 12 109471106 109471106 single base substitution T C intron_variant MELA-AU 12 109471153 109471153 single base substitution T C intron_variant MELA-AU 12 109471468 109471468 single base substitution C T intron_variant MELA-AU 12 109471781 109471781 single base substitution C T intron_variant MELA-AU 12 109471931 109471931 single base substitution C T intron_variant MELA-AU 12 109472023 109472023 single base substitution C T intron_variant MELA-AU 12 109472082 109472082 single base substitution C T intron_variant MELA-AU 12 109472120 109472120 single base substitution C T intron_variant MELA-AU 12 109472294 109472294 single base substitution G A intron_variant MELA-AU 12 109472329 109472329 single base substitution C T intron_variant MELA-AU 12 109472555 109472555 single base substitution C T intron_variant MELA-AU 12 109472865 109472865 single base substitution T A intron_variant MELA-AU 12 109473248 109473248 single base substitution A T intron_variant MELA-AU 12 109473302 109473302 single base substitution G A intron_variant MELA-AU 12 109473496 109473496 single base substitution G T intron_variant MELA-AU 12 109473576 109473576 single base substitution G A intron_variant MELA-AU 12 109473715 109473715 single base substitution C T intron_variant MELA-AU 12 109473757 109473757 single base substitution C T intron_variant MELA-AU 12 109473760 109473760 single base substitution G A intron_variant MELA-AU 12 109473862 109473862 single base substitution G A intron_variant MELA-AU 12 109473895 109473895 single base substitution G A intron_variant MELA-AU 12 109474023 109474023 single base substitution G A intron_variant MELA-AU 12 109474037 109474037 single base substitution C T intron_variant MELA-AU 12 109474092 109474092 single base substitution C T intron_variant MELA-AU 12 109474144 109474144 single base substitution C A intron_variant MELA-AU 12 109474200 109474200 single base substitution G A intron_variant MELA-AU 12 109474228 109474228 single base substitution C T intron_variant MELA-AU 12 109474568 109474568 single base substitution G A intron_variant MELA-AU 12 109474568 109474569 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 109474569 109474569 single base substitution G A intron_variant MELA-AU 12 109474578 109474578 single base substitution G A intron_variant MELA-AU 12 109474632 109474632 single base substitution G A intron_variant MELA-AU 12 109474675 109474675 single base substitution C T intron_variant MELA-AU 12 109474848 109474848 single base substitution G A intron_variant MELA-AU 12 109474865 109474865 single base substitution A G intron_variant MELA-AU 12 109474882 109474882 single base substitution G A intron_variant MELA-AU 12 109475160 109475160 single base substitution C T intron_variant MELA-AU 12 109475221 109475221 single base substitution C T intron_variant MELA-AU 12 109475517 109475517 single base substitution C T intron_variant MELA-AU 12 109475686 109475686 single base substitution A C intron_variant MELA-AU 12 109475774 109475774 single base substitution C T intron_variant MELA-AU 12 109475801 109475801 single base substitution G A intron_variant MELA-AU 12 109475941 109475941 single base substitution C T intron_variant MELA-AU 12 109476208 109476208 single base substitution C T intron_variant MELA-AU 12 109476283 109476283 single base substitution C T intron_variant MELA-AU 12 109476413 109476413 single base substitution C T intron_variant MELA-AU 12 109476414 109476414 single base substitution C T intron_variant MELA-AU 12 109476547 109476547 single base substitution G A intron_variant MELA-AU 12 109476854 109476854 single base substitution C T intron_variant MELA-AU 12 109477139 109477139 single base substitution C T intron_variant MELA-AU 12 109477280 109477280 single base substitution A G intron_variant MELA-AU 12 109477325 109477325 single base substitution A C intron_variant MELA-AU 12 109477355 109477355 single base substitution A C intron_variant MELA-AU 12 109477435 109477435 single base substitution G A intron_variant MELA-AU 12 109477447 109477447 single base substitution C T intron_variant MELA-AU 12 109477495 109477495 single base substitution A G intron_variant MELA-AU 12 109477636 109477636 single base substitution G A intron_variant MELA-AU 12 109477663 109477663 single base substitution C T intron_variant MELA-AU 12 109477684 109477684 single base substitution G A intron_variant MELA-AU 12 109477891 109477891 single base substitution G A intron_variant MELA-AU 12 109478139 109478139 single base substitution G A intron_variant MELA-AU 12 109478511 109478511 single base substitution C T intron_variant MELA-AU 12 109478708 109478708 single base substitution C T intron_variant MELA-AU 12 109478779 109478779 single base substitution C T intron_variant MELA-AU 12 109478818 109478818 single base substitution G A intron_variant MELA-AU 12 109478999 109478999 single base substitution G A intron_variant MELA-AU 12 109479105 109479105 single base substitution C T intron_variant MELA-AU 12 109479117 109479117 single base substitution C T intron_variant MELA-AU 12 109479154 109479154 single base substitution G A intron_variant MELA-AU 12 109479286 109479286 single base substitution G A intron_variant MELA-AU 12 109479294 109479294 single base substitution G C intron_variant MELA-AU 12 109479359 109479359 single base substitution G A intron_variant MELA-AU 12 109479409 109479409 single base substitution C T intron_variant MELA-AU 12 109479652 109479652 single base substitution C T intron_variant MELA-AU 12 109479803 109479803 single base substitution T G intron_variant MELA-AU 12 109480145 109480145 single base substitution C T intron_variant MELA-AU 12 109480165 109480165 single base substitution C T intron_variant MELA-AU 12 109480205 109480205 single base substitution C T intron_variant MELA-AU 12 109480375 109480375 single base substitution G A intron_variant MELA-AU 12 109480392 109480392 single base substitution C T intron_variant MELA-AU 12 109480590 109480590 single base substitution C T intron_variant MELA-AU 12 109480627 109480627 single base substitution C T intron_variant MELA-AU 12 109480642 109480642 single base substitution C T intron_variant MELA-AU 12 109480667 109480667 single base substitution C T intron_variant MELA-AU 12 109480783 109480783 single base substitution G A intron_variant MELA-AU 12 109480827 109480827 single base substitution G A intron_variant MELA-AU 12 109480888 109480888 single base substitution G T intron_variant MELA-AU 12 109480996 109480996 single base substitution A T intron_variant MELA-AU 12 109481057 109481057 single base substitution C T intron_variant MELA-AU 12 109481342 109481342 single base substitution G A intron_variant MELA-AU 12 109481361 109481361 single base substitution C G intron_variant MELA-AU 12 109481610 109481610 single base substitution G A intron_variant MELA-AU 12 109481845 109481845 single base substitution A T intron_variant MELA-AU 12 109482093 109482093 single base substitution G A intron_variant MELA-AU 12 109482294 109482294 single base substitution C T intron_variant MELA-AU 12 109482337 109482337 single base substitution G A intron_variant MELA-AU 12 109482359 109482359 single base substitution C T intron_variant MELA-AU 12 109482728 109482728 single base substitution G A intron_variant MELA-AU 12 109483200 109483200 single base substitution C T intron_variant MELA-AU 12 109483654 109483654 single base substitution C T intron_variant MELA-AU 12 109483888 109483888 single base substitution G A intron_variant MELA-AU 12 109484015 109484015 single base substitution C T intron_variant MELA-AU 12 109484029 109484029 single base substitution C T intron_variant MELA-AU 12 109484262 109484262 single base substitution G A intron_variant MELA-AU 12 109484439 109484439 single base substitution G A intron_variant MELA-AU 12 109484483 109484483 single base substitution G A intron_variant MELA-AU 12 109484699 109484699 single base substitution A T intron_variant MELA-AU 12 109484756 109484756 single base substitution C T intron_variant MELA-AU 12 109485098 109485098 single base substitution G A intron_variant MELA-AU 12 109485132 109485132 single base substitution C T intron_variant MELA-AU 12 109485768 109485768 single base substitution C T intron_variant MELA-AU 12 109485768 109485768 single base substitution C T upstream_gene_variant MELA-AU 12 109486161 109486161 single base substitution G A intron_variant MELA-AU 12 109486161 109486161 single base substitution G A upstream_gene_variant MELA-AU 12 109486260 109486260 single base substitution G A intron_variant MELA-AU 12 109486260 109486260 single base substitution G A upstream_gene_variant MELA-AU 12 109486313 109486313 single base substitution G A intron_variant MELA-AU 12 109486313 109486313 single base substitution G A upstream_gene_variant MELA-AU 12 109486403 109486404 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 109486403 109486404 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 109486455 109486455 single base substitution G A intron_variant MELA-AU 12 109486455 109486455 single base substitution G A upstream_gene_variant MELA-AU 12 109487284 109487284 single base substitution G A intron_variant MELA-AU 12 109487284 109487284 single base substitution G A upstream_gene_variant MELA-AU 12 109487418 109487418 single base substitution G A intron_variant MELA-AU 12 109487418 109487418 single base substitution G A upstream_gene_variant MELA-AU 12 109487518 109487518 single base substitution G A intron_variant MELA-AU 12 109487518 109487518 single base substitution G A upstream_gene_variant MELA-AU 12 109488167 109488167 single base substitution C T intron_variant MELA-AU 12 109488167 109488167 single base substitution C T upstream_gene_variant MELA-AU 12 109488220 109488220 single base substitution C T intron_variant MELA-AU 12 109488220 109488220 single base substitution C T upstream_gene_variant MELA-AU 12 109488392 109488392 single base substitution G A intron_variant MELA-AU 12 109488392 109488392 single base substitution G A upstream_gene_variant MELA-AU 12 109488596 109488596 single base substitution G A intron_variant MELA-AU 12 109488596 109488596 single base substitution G A upstream_gene_variant MELA-AU 12 109489305 109489305 single base substitution C T intron_variant MELA-AU 12 109489305 109489305 single base substitution C T upstream_gene_variant MELA-AU 12 109489595 109489595 single base substitution G A intron_variant MELA-AU 12 109489595 109489595 single base substitution G A upstream_gene_variant MELA-AU 12 109489626 109489626 single base substitution C T intron_variant MELA-AU 12 109489626 109489626 single base substitution C T upstream_gene_variant MELA-AU 12 109489645 109489645 single base substitution G A intron_variant MELA-AU 12 109489645 109489645 single base substitution G A upstream_gene_variant MELA-AU 12 109489665 109489665 single base substitution G A intron_variant MELA-AU 12 109489665 109489665 single base substitution G A upstream_gene_variant MELA-AU 12 109490292 109490292 single base substitution G A intron_variant MELA-AU 12 109490292 109490292 single base substitution G A upstream_gene_variant MELA-AU 12 109490315 109490315 single base substitution G A intron_variant MELA-AU 12 109490315 109490315 single base substitution G A upstream_gene_variant MELA-AU 12 109490315 109490315 single base substitution G T intron_variant MELA-AU 12 109490315 109490315 single base substitution G T upstream_gene_variant MELA-AU 12 109490315 109490316 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 109490315 109490316 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 109490316 109490316 single base substitution G A intron_variant MELA-AU 12 109490316 109490316 single base substitution G A upstream_gene_variant MELA-AU 12 109490383 109490384 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 109490383 109490384 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 109491688 109491688 single base substitution G A 5_prime_UTR_variant MELA-AU 12 109491688 109491688 single base substitution G A intron_variant MELA-AU 12 109491832 109491832 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 109491832 109491832 single base substitution T C intron_variant MELA-AU 12 109492205 109492206 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 109492371 109492371 single base substitution G A intron_variant MELA-AU 12 109493127 109493127 single base substitution C T intron_variant MELA-AU 12 109494314 109494314 single base substitution C T intron_variant MELA-AU 12 109495152 109495152 single base substitution C T intron_variant MELA-AU 12 109495259 109495259 single base substitution C T intron_variant MELA-AU 12 109495524 109495524 single base substitution C T intron_variant MELA-AU 12 109495630 109495630 single base substitution C T intron_variant MELA-AU 12 109496084 109496084 single base substitution C T downstream_gene_variant MELA-AU 12 109496084 109496084 single base substitution C T intron_variant MELA-AU 12 109496177 109496177 single base substitution C T downstream_gene_variant MELA-AU 12 109496177 109496177 single base substitution C T intron_variant MELA-AU 12 109496181 109496181 single base substitution C T downstream_gene_variant MELA-AU 12 109496181 109496181 single base substitution C T intron_variant MELA-AU 12 109496202 109496202 single base substitution C T downstream_gene_variant MELA-AU 12 109496202 109496202 single base substitution C T intron_variant MELA-AU 12 109496485 109496485 single base substitution C T downstream_gene_variant MELA-AU 12 109496485 109496485 single base substitution C T intron_variant MELA-AU 12 109496534 109496534 single base substitution C G downstream_gene_variant MELA-AU 12 109496534 109496534 single base substitution C G intron_variant MELA-AU 12 109496819 109496819 single base substitution C T downstream_gene_variant MELA-AU 12 109496819 109496819 single base substitution C T intron_variant MELA-AU 12 109497505 109497505 single base substitution G A downstream_gene_variant MELA-AU 12 109497505 109497505 single base substitution G A intron_variant MELA-AU 12 109497806 109497806 single base substitution C T downstream_gene_variant MELA-AU 12 109497806 109497806 single base substitution C T intron_variant MELA-AU 12 109498305 109498305 single base substitution C T downstream_gene_variant MELA-AU 12 109498305 109498305 single base substitution C T intron_variant MELA-AU 12 109498468 109498468 single base substitution C T downstream_gene_variant MELA-AU 12 109498468 109498468 single base substitution C T intron_variant MELA-AU 12 109498764 109498764 single base substitution T A downstream_gene_variant MELA-AU 12 109498764 109498764 single base substitution T A intron_variant MELA-AU 12 109500170 109500170 single base substitution C T downstream_gene_variant MELA-AU 12 109500170 109500170 single base substitution C T intron_variant MELA-AU 12 109500637 109500637 single base substitution G T downstream_gene_variant MELA-AU 12 109500637 109500637 single base substitution G T intron_variant MELA-AU 12 109500637 109500637 single base substitution G T upstream_gene_variant MELA-AU 12 109500718 109500718 single base substitution C T downstream_gene_variant MELA-AU 12 109500718 109500718 single base substitution C T intron_variant MELA-AU 12 109500718 109500718 single base substitution C T upstream_gene_variant MELA-AU 12 109500862 109500862 single base substitution C T downstream_gene_variant MELA-AU 12 109500862 109500862 single base substitution C T intron_variant MELA-AU 12 109500862 109500862 single base substitution C T upstream_gene_variant MELA-AU 12 109502179 109502179 single base substitution C T intron_variant MELA-AU 12 109502179 109502179 single base substitution C T upstream_gene_variant MELA-AU 12 109502531 109502531 single base substitution C T intron_variant MELA-AU 12 109502531 109502531 single base substitution C T upstream_gene_variant MELA-AU 12 109502739 109502739 single base substitution C T intron_variant MELA-AU 12 109502739 109502739 single base substitution C T upstream_gene_variant MELA-AU 12 109502749 109502749 single base substitution C T intron_variant MELA-AU 12 109502749 109502749 single base substitution C T upstream_gene_variant MELA-AU 12 109503181 109503181 single base substitution C T intron_variant MELA-AU 12 109503181 109503181 single base substitution C T upstream_gene_variant MELA-AU 12 109503229 109503229 single base substitution C T intron_variant MELA-AU 12 109503229 109503229 single base substitution C T upstream_gene_variant MELA-AU 12 109503633 109503633 single base substitution C T intron_variant MELA-AU 12 109503633 109503633 single base substitution C T upstream_gene_variant MELA-AU 12 109504960 109504960 single base substitution C T intron_variant MELA-AU 12 109504960 109504960 single base substitution C T upstream_gene_variant MELA-AU 12 109505831 109505831 single base substitution G A intron_variant MELA-AU 12 109505833 109505833 single base substitution A G intron_variant MELA-AU 12 109505888 109505888 single base substitution C T intron_variant MELA-AU 12 109505917 109505917 single base substitution C T intron_variant MELA-AU 12 109505938 109505938 single base substitution C T intron_variant MELA-AU 12 109506105 109506105 single base substitution C T intron_variant MELA-AU 12 109506133 109506133 single base substitution C T intron_variant MELA-AU 12 109506730 109506730 single base substitution C T intron_variant MELA-AU 12 109507010 109507010 single base substitution C T intron_variant MELA-AU 12 109507508 109507508 single base substitution G A intron_variant MELA-AU 12 109508015 109508015 single base substitution G C intron_variant MELA-AU 12 109508087 109508087 single base substitution C T intron_variant MELA-AU 12 109508332 109508333 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 109509250 109509250 single base substitution C T intron_variant MELA-AU 12 109509502 109509502 single base substitution T G 3_prime_UTR_variant MELA-AU 12 109509502 109509502 single base substitution T G exon_variant MELA-AU 12 109509502 109509502 single base substitution T G missense_variant V128G 383T>G MELA-AU 12 109509502 109509502 single base substitution T G missense_variant V158G 473T>G MELA-AU 12 109509502 109509502 single base substitution T G missense_variant V189G 566T>G MELA-AU 12 109510080 109510080 single base substitution C T intron_variant MELA-AU 12 109510931 109510931 single base substitution C T downstream_gene_variant MELA-AU 12 109510931 109510931 single base substitution C T intron_variant MELA-AU 12 109511181 109511181 single base substitution G A downstream_gene_variant MELA-AU 12 109511181 109511181 single base substitution G A intron_variant MELA-AU 12 109511262 109511262 single base substitution C T 3_prime_UTR_variant MELA-AU 12 109511262 109511262 single base substitution C T downstream_gene_variant MELA-AU 12 109511262 109511262 single base substitution C T exon_variant MELA-AU 12 109511262 109511262 single base substitution C T synonymous_variant S184S 552C>T MELA-AU 12 109511262 109511262 single base substitution C T synonymous_variant S215S 645C>T MELA-AU 12 109511798 109511798 single base substitution C T downstream_gene_variant MELA-AU 12 109511798 109511798 single base substitution C T intron_variant MELA-AU 12 109511850 109511850 single base substitution C T downstream_gene_variant MELA-AU 12 109511850 109511850 single base substitution C T intron_variant MELA-AU 12 109512571 109512571 single base substitution T C downstream_gene_variant MELA-AU 12 109512571 109512571 single base substitution T C intron_variant MELA-AU 12 109513265 109513266 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 109513265 109513266 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 109513408 109513408 single base substitution C T downstream_gene_variant MELA-AU 12 109513408 109513408 single base substitution C T intron_variant MELA-AU 12 109513655 109513655 single base substitution T A downstream_gene_variant MELA-AU 12 109513655 109513655 single base substitution T A intron_variant MELA-AU 12 109513685 109513685 single base substitution C A downstream_gene_variant MELA-AU 12 109513685 109513685 single base substitution C A intron_variant MELA-AU 12 109513792 109513792 single base substitution C T downstream_gene_variant MELA-AU 12 109513792 109513792 single base substitution C T intron_variant MELA-AU 12 109514406 109514406 single base substitution C T downstream_gene_variant MELA-AU 12 109514406 109514406 single base substitution C T intron_variant MELA-AU 12 109514495 109514495 single base substitution T C downstream_gene_variant MELA-AU 12 109514495 109514495 single base substitution T C intron_variant MELA-AU 12 109514902 109514902 single base substitution T C downstream_gene_variant MELA-AU 12 109514902 109514902 single base substitution T C intron_variant MELA-AU 12 109515274 109515274 single base substitution G A intron_variant MELA-AU 12 109516204 109516204 single base substitution G T intron_variant MELA-AU 12 109516204 109516204 single base substitution G T upstream_gene_variant MELA-AU 12 109517483 109517483 single base substitution C T intron_variant MELA-AU 12 109517483 109517483 single base substitution C T upstream_gene_variant MELA-AU 12 109517905 109517905 single base substitution C T intron_variant MELA-AU 12 109517905 109517905 single base substitution C T upstream_gene_variant MELA-AU 12 109517917 109517917 single base substitution C T intron_variant MELA-AU 12 109517917 109517917 single base substitution C T upstream_gene_variant MELA-AU 12 109517990 109517990 single base substitution C T intron_variant MELA-AU 12 109517990 109517990 single base substitution C T upstream_gene_variant MELA-AU 12 109518186 109518186 single base substitution C T intron_variant MELA-AU 12 109518186 109518186 single base substitution C T upstream_gene_variant MELA-AU 12 109518332 109518332 single base substitution C T intron_variant MELA-AU 12 109518332 109518332 single base substitution C T upstream_gene_variant MELA-AU 12 109519246 109519246 single base substitution C T exon_variant MELA-AU 12 109519246 109519246 single base substitution C T intron_variant MELA-AU 12 109519246 109519246 single base substitution C T upstream_gene_variant MELA-AU 12 109519327 109519327 single base substitution T A exon_variant MELA-AU 12 109519327 109519327 single base substitution T A intron_variant MELA-AU 12 109519327 109519327 single base substitution T A upstream_gene_variant MELA-AU 12 109519339 109519339 single base substitution G A exon_variant MELA-AU 12 109519339 109519339 single base substitution G A intron_variant MELA-AU 12 109519339 109519339 single base substitution G A upstream_gene_variant MELA-AU 12 109519522 109519522 single base substitution C T downstream_gene_variant MELA-AU 12 109519522 109519522 single base substitution C T intron_variant MELA-AU 12 109519522 109519522 single base substitution C T upstream_gene_variant MELA-AU 12 109519663 109519663 single base substitution C T downstream_gene_variant MELA-AU 12 109519663 109519663 single base substitution C T intron_variant MELA-AU 12 109519663 109519663 single base substitution C T upstream_gene_variant MELA-AU 12 109520094 109520094 single base substitution C T downstream_gene_variant MELA-AU 12 109520094 109520094 single base substitution C T intron_variant MELA-AU 12 109520094 109520094 single base substitution C T upstream_gene_variant MELA-AU 12 109520130 109520130 single base substitution C T downstream_gene_variant MELA-AU 12 109520130 109520130 single base substitution C T intron_variant MELA-AU 12 109520130 109520130 single base substitution C T upstream_gene_variant MELA-AU 12 109520162 109520162 single base substitution C T downstream_gene_variant MELA-AU 12 109520162 109520162 single base substitution C T intron_variant MELA-AU 12 109520162 109520162 single base substitution C T upstream_gene_variant MELA-AU 12 109520251 109520251 single base substitution T C downstream_gene_variant MELA-AU 12 109520251 109520251 single base substitution T C intron_variant MELA-AU 12 109520251 109520251 single base substitution T C upstream_gene_variant MELA-AU 12 109520568 109520568 single base substitution C T downstream_gene_variant MELA-AU 12 109520568 109520568 single base substitution C T exon_variant MELA-AU 12 109520568 109520568 single base substitution C T intron_variant MELA-AU 12 109520568 109520568 single base substitution C T upstream_gene_variant MELA-AU 12 109520628 109520628 single base substitution G A downstream_gene_variant MELA-AU 12 109520628 109520628 single base substitution G A exon_variant MELA-AU 12 109520628 109520628 single base substitution G A intron_variant MELA-AU 12 109520628 109520628 single base substitution G A upstream_gene_variant MELA-AU 12 109521623 109521623 single base substitution C T downstream_gene_variant MELA-AU 12 109521623 109521623 single base substitution C T intron_variant MELA-AU 12 109521623 109521623 single base substitution C T upstream_gene_variant MELA-AU 12 109521893 109521893 single base substitution C T downstream_gene_variant MELA-AU 12 109521893 109521893 single base substitution C T intron_variant MELA-AU 12 109521893 109521893 single base substitution C T upstream_gene_variant MELA-AU 12 109522266 109522266 single base substitution G A downstream_gene_variant MELA-AU 12 109522266 109522266 single base substitution G A intron_variant MELA-AU 12 109522266 109522266 single base substitution G A upstream_gene_variant MELA-AU 12 109522462 109522464 deletion of <=200bp CTA - downstream_gene_variant MELA-AU 12 109522462 109522464 deletion of <=200bp CTA - intron_variant MELA-AU 12 109522462 109522464 deletion of <=200bp CTA - upstream_gene_variant MELA-AU 12 109522732 109522732 single base substitution T A downstream_gene_variant MELA-AU 12 109522732 109522732 single base substitution T A intron_variant MELA-AU 12 109522732 109522732 single base substitution T A upstream_gene_variant MELA-AU 12 109522798 109522798 single base substitution G A downstream_gene_variant MELA-AU 12 109522798 109522798 single base substitution G A exon_variant MELA-AU 12 109522798 109522798 single base substitution G A missense_variant M372I 1116G>A MELA-AU 12 109522798 109522798 single base substitution G A missense_variant M403I 1209G>A MELA-AU 12 109522798 109522798 single base substitution G A upstream_gene_variant MELA-AU 12 109522901 109522901 single base substitution C T downstream_gene_variant MELA-AU 12 109522901 109522901 single base substitution C T intron_variant MELA-AU 12 109523354 109523354 single base substitution G A downstream_gene_variant MELA-AU 12 109523354 109523354 single base substitution G A intron_variant MELA-AU 12 109523460 109523460 single base substitution C T downstream_gene_variant MELA-AU 12 109523460 109523460 single base substitution C T intron_variant MELA-AU 12 109524652 109524652 single base substitution C A 3_prime_UTR_variant MELA-AU 12 109524652 109524652 single base substitution C A downstream_gene_variant MELA-AU 12 109524652 109524652 single base substitution C A exon_variant MELA-AU 12 109524886 109524886 single base substitution T C 3_prime_UTR_variant MELA-AU 12 109524886 109524886 single base substitution T C downstream_gene_variant MELA-AU 12 109524886 109524886 single base substitution T C exon_variant MELA-AU 12 109526464 109526464 single base substitution G C downstream_gene_variant MELA-AU 12 109526505 109526505 single base substitution G A downstream_gene_variant MELA-AU 12 109526593 109526593 single base substitution C T downstream_gene_variant MELA-AU 12 109526631 109526631 single base substitution C T downstream_gene_variant MELA-AU 12 109526843 109526843 single base substitution C T downstream_gene_variant MELA-AU 12 109526915 109526915 single base substitution C T downstream_gene_variant MELA-AU 12 109527340 109527340 single base substitution G A downstream_gene_variant MELA-AU 12 109527844 109527844 single base substitution C G downstream_gene_variant MELA-AU 12 109527987 109527987 single base substitution G A downstream_gene_variant MELA-AU 12 109528691 109528691 single base substitution G A downstream_gene_variant MELA-AU 12 109528844 109528844 single base substitution T C downstream_gene_variant MELA-AU 12 109529478 109529478 single base substitution G A downstream_gene_variant MELA-AU 12 109529607 109529608 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 109529868 109529868 single base substitution G A downstream_gene_variant MELA-AU 12 109529977 109529977 single base substitution G A downstream_gene_variant MELA-AU 12 109530489 109530489 single base substitution C T downstream_gene_variant MELA-AU 12 109530519 109530519 single base substitution C T downstream_gene_variant ORCA-IN 12 109464910 109464910 single base substitution C G intron_variant ORCA-IN 12 109474336 109474336 single base substitution G C intron_variant ORCA-IN 12 109490120 109490120 single base substitution C T intron_variant ORCA-IN 12 109490120 109490120 single base substitution C T upstream_gene_variant ORCA-IN 12 109519429 109519436 deletion of <=200bp CACACACA - exon_variant ORCA-IN 12 109519429 109519436 deletion of <=200bp CACACACA - intron_variant ORCA-IN 12 109519429 109519436 deletion of <=200bp CACACACA - upstream_gene_variant ORCA-IN 12 109519459 109519459 single base substitution C G downstream_gene_variant ORCA-IN 12 109519459 109519459 single base substitution C G intron_variant ORCA-IN 12 109519459 109519459 single base substitution C G upstream_gene_variant ORCA-IN 12 109523556 109523556 single base substitution G A downstream_gene_variant ORCA-IN 12 109523556 109523556 single base substitution G A exon_variant ORCA-IN 12 109523556 109523556 single base substitution G A synonymous_variant R427R 1281G>A ORCA-IN 12 109523556 109523556 single base substitution G A synonymous_variant R458R 1374G>A ORCA-IN 12 109526873 109526873 single base substitution C G downstream_gene_variant OV-AU 12 109455985 109455985 single base substitution G C upstream_gene_variant OV-AU 12 109457120 109457120 single base substitution C G upstream_gene_variant OV-AU 12 109464810 109464810 single base substitution T C intron_variant OV-AU 12 109466715 109466715 single base substitution T C intron_variant OV-AU 12 109471495 109471495 single base substitution A T intron_variant OV-AU 12 109471642 109471642 single base substitution C T intron_variant OV-AU 12 109473299 109473299 single base substitution G A intron_variant OV-AU 12 109477597 109477597 single base substitution G T intron_variant OV-AU 12 109480618 109480618 single base substitution C A intron_variant OV-AU 12 109480695 109480695 single base substitution T C intron_variant OV-AU 12 109480722 109480722 single base substitution G T intron_variant OV-AU 12 109484703 109484703 single base substitution T C intron_variant OV-AU 12 109486272 109486272 single base substitution T C intron_variant OV-AU 12 109486272 109486272 single base substitution T C upstream_gene_variant OV-AU 12 109496663 109496663 single base substitution A T downstream_gene_variant OV-AU 12 109496663 109496663 single base substitution A T intron_variant OV-AU 12 109497278 109497278 single base substitution G C downstream_gene_variant OV-AU 12 109497278 109497278 single base substitution G C intron_variant OV-AU 12 109506962 109506962 single base substitution G A intron_variant OV-AU 12 109520343 109520343 single base substitution G T downstream_gene_variant OV-AU 12 109520343 109520343 single base substitution G T exon_variant OV-AU 12 109520343 109520343 single base substitution G T intron_variant OV-AU 12 109520343 109520343 single base substitution G T upstream_gene_variant OV-AU 12 109521917 109521917 single base substitution C T downstream_gene_variant OV-AU 12 109521917 109521917 single base substitution C T intron_variant OV-AU 12 109521917 109521917 single base substitution C T upstream_gene_variant OV-AU 12 109522426 109522426 single base substitution A C downstream_gene_variant OV-AU 12 109522426 109522426 single base substitution A C intron_variant OV-AU 12 109522426 109522426 single base substitution A C upstream_gene_variant OV-AU 12 109527336 109527336 single base substitution T C downstream_gene_variant PACA-AU 12 109457095 109457095 deletion of <=200bp T - upstream_gene_variant PACA-AU 12 109457416 109457416 single base substitution A G upstream_gene_variant PACA-AU 12 109459554 109459554 single base substitution A G upstream_gene_variant PACA-AU 12 109460101 109460101 single base substitution G T upstream_gene_variant PACA-AU 12 109460627 109460627 single base substitution T A upstream_gene_variant PACA-AU 12 109466205 109466205 single base substitution C A intron_variant PACA-AU 12 109470667 109470667 single base substitution G C intron_variant PACA-AU 12 109474886 109474886 single base substitution T A intron_variant PACA-AU 12 109477488 109477488 single base substitution T A intron_variant PACA-AU 12 109481165 109481165 single base substitution A T intron_variant PACA-AU 12 109481294 109481294 single base substitution C A intron_variant PACA-AU 12 109490384 109490384 single base substitution G A intron_variant PACA-AU 12 109490384 109490384 single base substitution G A upstream_gene_variant PACA-AU 12 109490743 109490743 single base substitution T C 5_prime_UTR_variant PACA-AU 12 109490743 109490743 single base substitution T C intron_variant PACA-AU 12 109493897 109493897 single base substitution A G intron_variant PACA-AU 12 109499858 109499858 single base substitution G C downstream_gene_variant PACA-AU 12 109499858 109499858 single base substitution G C intron_variant PACA-AU 12 109502947 109502950 deletion of <=200bp AGAA - intron_variant PACA-AU 12 109502947 109502950 deletion of <=200bp AGAA - upstream_gene_variant PACA-AU 12 109504179 109504179 single base substitution T C intron_variant PACA-AU 12 109504179 109504179 single base substitution T C upstream_gene_variant PACA-AU 12 109515629 109515629 deletion of <=200bp T - intron_variant PACA-AU 12 109515629 109515629 deletion of <=200bp T - upstream_gene_variant PACA-AU 12 109516002 109516002 single base substitution G A intron_variant PACA-AU 12 109516002 109516002 single base substitution G A upstream_gene_variant PACA-AU 12 109519434 109519434 single base substitution A G downstream_gene_variant PACA-AU 12 109519434 109519434 single base substitution A G intron_variant PACA-AU 12 109519434 109519434 single base substitution A G upstream_gene_variant PACA-AU 12 109523420 109523420 single base substitution A G downstream_gene_variant PACA-AU 12 109523420 109523420 single base substitution A G intron_variant PACA-AU 12 109526732 109526732 single base substitution G A downstream_gene_variant PACA-CA 12 109458352 109458352 single base substitution A G upstream_gene_variant PACA-CA 12 109459456 109459456 single base substitution C A upstream_gene_variant PACA-CA 12 109461500 109461500 single base substitution G A intron_variant PACA-CA 12 109461531 109461531 single base substitution C T intron_variant PACA-CA 12 109462088 109462088 single base substitution G T intron_variant PACA-CA 12 109464019 109464019 single base substitution T G intron_variant PACA-CA 12 109466270 109466270 deletion of <=200bp T - intron_variant PACA-CA 12 109466321 109466321 single base substitution C T intron_variant PACA-CA 12 109466425 109466425 single base substitution G T intron_variant PACA-CA 12 109468134 109468134 single base substitution G A intron_variant PACA-CA 12 109469507 109469507 single base substitution T A intron_variant PACA-CA 12 109470799 109470804 deletion of <=200bp GCATGT - intron_variant PACA-CA 12 109472311 109472311 single base substitution C T intron_variant PACA-CA 12 109473175 109473175 insertion of <=200bp - T intron_variant PACA-CA 12 109474509 109474509 single base substitution A G intron_variant PACA-CA 12 109474743 109474743 single base substitution C A intron_variant PACA-CA 12 109475770 109475770 single base substitution T C intron_variant PACA-CA 12 109481456 109481456 single base substitution G A intron_variant PACA-CA 12 109481600 109481600 single base substitution A C intron_variant PACA-CA 12 109487695 109487695 single base substitution C G intron_variant PACA-CA 12 109487695 109487695 single base substitution C G upstream_gene_variant PACA-CA 12 109491024 109491024 single base substitution C A intron_variant PACA-CA 12 109499434 109499434 single base substitution C T downstream_gene_variant PACA-CA 12 109499434 109499434 single base substitution C T intron_variant PACA-CA 12 109506346 109506346 single base substitution C A intron_variant PACA-CA 12 109517740 109517740 single base substitution A T intron_variant PACA-CA 12 109517740 109517740 single base substitution A T upstream_gene_variant PACA-CA 12 109519467 109519467 single base substitution C G downstream_gene_variant PACA-CA 12 109519467 109519467 single base substitution C G intron_variant PACA-CA 12 109519467 109519467 single base substitution C G upstream_gene_variant PACA-CA 12 109522158 109522158 single base substitution A G downstream_gene_variant PACA-CA 12 109522158 109522158 single base substitution A G intron_variant PACA-CA 12 109522158 109522158 single base substitution A G upstream_gene_variant PACA-CA 12 109523594 109523594 single base substitution A G downstream_gene_variant PACA-CA 12 109523594 109523594 single base substitution A G exon_variant PACA-CA 12 109523594 109523594 single base substitution A G missense_variant N440S 1319A>G PACA-CA 12 109523594 109523594 single base substitution A G missense_variant N471S 1412A>G PACA-CA 12 109526185 109526185 single base substitution C T downstream_gene_variant PACA-CA 12 109528561 109528561 single base substitution G C downstream_gene_variant PACA-CA 12 109529529 109529529 single base substitution T C downstream_gene_variant PAEN-AU 12 109472039 109472039 single base substitution A G intron_variant PAEN-AU 12 109495719 109495719 single base substitution C A intron_variant PAEN-IT 12 109471345 109471345 single base substitution T G intron_variant PAEN-IT 12 109488392 109488392 single base substitution G T intron_variant PAEN-IT 12 109488392 109488392 single base substitution G T upstream_gene_variant PAEN-IT 12 109497469 109497469 single base substitution C T downstream_gene_variant PAEN-IT 12 109497469 109497469 single base substitution C T intron_variant PAEN-IT 12 109509848 109509848 single base substitution G T intron_variant PBCA-DE 12 109462000 109462000 single base substitution G A intron_variant PBCA-DE 12 109463742 109463742 single base substitution C T intron_variant PBCA-DE 12 109466439 109466439 single base substitution C T intron_variant PBCA-DE 12 109467643 109467643 single base substitution C T intron_variant PBCA-DE 12 109472751 109472751 single base substitution C A intron_variant PBCA-DE 12 109474528 109474528 deletion of <=200bp T - intron_variant PBCA-DE 12 109480007 109480007 deletion of <=200bp T - intron_variant PBCA-DE 12 109480408 109480408 single base substitution C A intron_variant PBCA-DE 12 109485366 109485366 single base substitution G C intron_variant PBCA-DE 12 109486753 109486753 single base substitution A G intron_variant PBCA-DE 12 109486753 109486753 single base substitution A G upstream_gene_variant PBCA-DE 12 109497929 109497929 insertion of <=200bp - T downstream_gene_variant PBCA-DE 12 109497929 109497929 insertion of <=200bp - T intron_variant PBCA-DE 12 109503432 109503432 single base substitution C A intron_variant PBCA-DE 12 109503432 109503432 single base substitution C A upstream_gene_variant PBCA-DE 12 109512511 109512512 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 12 109512511 109512512 deletion of <=200bp TG - intron_variant PBCA-DE 12 109520044 109520044 single base substitution C T downstream_gene_variant PBCA-DE 12 109520044 109520044 single base substitution C T intron_variant PBCA-DE 12 109520044 109520044 single base substitution C T upstream_gene_variant PRAD-CA 12 109465489 109465489 single base substitution G T intron_variant PRAD-CA 12 109470387 109470387 single base substitution A G intron_variant PRAD-CA 12 109474348 109474348 single base substitution C A intron_variant PRAD-CA 12 109498204 109498204 single base substitution G A downstream_gene_variant PRAD-CA 12 109498204 109498204 single base substitution G A intron_variant PRAD-CA 12 109499215 109499215 single base substitution A T downstream_gene_variant PRAD-CA 12 109499215 109499215 single base substitution A T intron_variant PRAD-CA 12 109502142 109502142 single base substitution T C intron_variant PRAD-CA 12 109502142 109502142 single base substitution T C upstream_gene_variant PRAD-CA 12 109506591 109506591 single base substitution C T intron_variant PRAD-CA 12 109517155 109517155 single base substitution T C intron_variant PRAD-CA 12 109517155 109517155 single base substitution T C upstream_gene_variant PRAD-CA 12 109519477 109519477 single base substitution C T downstream_gene_variant PRAD-CA 12 109519477 109519477 single base substitution C T intron_variant PRAD-CA 12 109519477 109519477 single base substitution C T upstream_gene_variant PRAD-CA 12 109525262 109525262 single base substitution C A 3_prime_UTR_variant PRAD-CA 12 109525262 109525262 single base substitution C A downstream_gene_variant PRAD-CA 12 109525262 109525262 single base substitution C A exon_variant PRAD-UK 12 109461729 109461729 single base substitution C T intron_variant PRAD-UK 12 109463653 109463653 single base substitution T A intron_variant PRAD-UK 12 109470549 109470549 single base substitution A G intron_variant PRAD-UK 12 109493842 109493842 single base substitution A G intron_variant PRAD-UK 12 109499036 109499036 single base substitution A G downstream_gene_variant PRAD-UK 12 109499036 109499036 single base substitution A G intron_variant PRAD-UK 12 109502386 109502386 single base substitution C T intron_variant PRAD-UK 12 109502386 109502386 single base substitution C T upstream_gene_variant PRAD-UK 12 109514403 109514403 single base substitution C G downstream_gene_variant PRAD-UK 12 109514403 109514403 single base substitution C G intron_variant PRAD-US 12 109519153 109519153 single base substitution T G 3_prime_UTR_variant PRAD-US 12 109519153 109519153 single base substitution T G exon_variant PRAD-US 12 109519153 109519153 single base substitution T G missense_variant F214L 642T>G PRAD-US 12 109519153 109519153 single base substitution T G missense_variant F245L 735T>G PRAD-US 12 109519153 109519153 single base substitution T G upstream_gene_variant PRAD-US 12 109522826 109522826 single base substitution C T downstream_gene_variant PRAD-US 12 109522826 109522826 single base substitution C T exon_variant PRAD-US 12 109522826 109522826 single base substitution C T missense_variant P382S 1144C>T PRAD-US 12 109522826 109522826 single base substitution C T missense_variant P413S 1237C>T PRAD-US 12 109522826 109522826 single base substitution C T upstream_gene_variant PRAD-US 12 109523652 109523652 single base substitution G T downstream_gene_variant PRAD-US 12 109523652 109523652 single base substitution G T exon_variant PRAD-US 12 109523652 109523652 single base substitution G T synonymous_variant L459L 1377G>T PRAD-US 12 109523652 109523652 single base substitution G T synonymous_variant L490L 1470G>T PRAD-US 12 109526137 109526137 single base substitution G A downstream_gene_variant PRAD-US 12 109526259 109526259 single base substitution G A downstream_gene_variant READ-US 12 109509426 109509426 single base substitution G A 3_prime_UTR_variant READ-US 12 109509426 109509426 single base substitution G A exon_variant READ-US 12 109509426 109509426 single base substitution G A missense_variant E103K 307G>A READ-US 12 109509426 109509426 single base substitution G A missense_variant E133K 397G>A READ-US 12 109509426 109509426 single base substitution G A missense_variant E164K 490G>A READ-US 12 109523555 109523555 single base substitution G A downstream_gene_variant READ-US 12 109523555 109523555 single base substitution G A exon_variant READ-US 12 109523555 109523555 single base substitution G A missense_variant R427Q 1280G>A READ-US 12 109523555 109523555 single base substitution G A missense_variant R458Q 1373G>A RECA-EU 12 109455906 109455906 single base substitution G A upstream_gene_variant RECA-EU 12 109460162 109460162 single base substitution T A upstream_gene_variant RECA-EU 12 109465253 109465253 single base substitution T C intron_variant RECA-EU 12 109469756 109469756 single base substitution A C intron_variant RECA-EU 12 109469785 109469785 single base substitution T C intron_variant RECA-EU 12 109495473 109495473 single base substitution T C intron_variant RECA-EU 12 109502826 109502826 single base substitution T G intron_variant RECA-EU 12 109502826 109502826 single base substitution T G upstream_gene_variant RECA-EU 12 109503503 109503503 single base substitution C G intron_variant RECA-EU 12 109503503 109503503 single base substitution C G upstream_gene_variant RECA-EU 12 109508755 109508755 single base substitution A C intron_variant RECA-EU 12 109517155 109517155 single base substitution T C intron_variant RECA-EU 12 109517155 109517155 single base substitution T C upstream_gene_variant RECA-EU 12 109519237 109519237 single base substitution G T exon_variant RECA-EU 12 109519237 109519237 single base substitution G T intron_variant RECA-EU 12 109519237 109519237 single base substitution G T upstream_gene_variant RECA-EU 12 109525104 109525104 single base substitution T C 3_prime_UTR_variant RECA-EU 12 109525104 109525104 single base substitution T C downstream_gene_variant RECA-EU 12 109525104 109525104 single base substitution T C exon_variant RECA-EU 12 109525909 109525909 single base substitution T C downstream_gene_variant RECA-EU 12 109526889 109526889 single base substitution G T downstream_gene_variant SKCA-BR 12 109455906 109455914 deletion of <=200bp GATGGATGA - upstream_gene_variant SKCA-BR 12 109457894 109457894 single base substitution G A upstream_gene_variant SKCA-BR 12 109459706 109459706 single base substitution C A upstream_gene_variant SKCA-BR 12 109461021 109461033 deletion of <=200bp GCTCTCTAGGGCT - intron_variant SKCA-BR 12 109461410 109461410 single base substitution C T intron_variant SKCA-BR 12 109462249 109462249 single base substitution G A intron_variant SKCA-BR 12 109464089 109464089 single base substitution C A intron_variant SKCA-BR 12 109464272 109464274 deletion of <=200bp ATT - intron_variant SKCA-BR 12 109464530 109464530 single base substitution C T intron_variant SKCA-BR 12 109464805 109464805 single base substitution C T intron_variant SKCA-BR 12 109466255 109466255 single base substitution C T intron_variant SKCA-BR 12 109466555 109466555 single base substitution C T intron_variant SKCA-BR 12 109467948 109467948 single base substitution C G intron_variant SKCA-BR 12 109468574 109468574 single base substitution C T intron_variant SKCA-BR 12 109468575 109468575 single base substitution C T intron_variant SKCA-BR 12 109469630 109469630 single base substitution G A intron_variant SKCA-BR 12 109470007 109470007 single base substitution G A intron_variant SKCA-BR 12 109470033 109470033 single base substitution C T intron_variant SKCA-BR 12 109470273 109470273 single base substitution G A intron_variant SKCA-BR 12 109470411 109470411 single base substitution C T intron_variant SKCA-BR 12 109471070 109471070 single base substitution C T intron_variant SKCA-BR 12 109471356 109471356 single base substitution G A intron_variant SKCA-BR 12 109471526 109471526 single base substitution C T intron_variant SKCA-BR 12 109473781 109473781 single base substitution T A intron_variant SKCA-BR 12 109473991 109473991 single base substitution C T intron_variant SKCA-BR 12 109476341 109476341 single base substitution C T intron_variant SKCA-BR 12 109478668 109478668 single base substitution G A intron_variant SKCA-BR 12 109478845 109478845 single base substitution C T intron_variant SKCA-BR 12 109479315 109479315 single base substitution C T intron_variant SKCA-BR 12 109481016 109481016 single base substitution C T intron_variant SKCA-BR 12 109482187 109482187 single base substitution G A intron_variant SKCA-BR 12 109482793 109482794 deletion of <=200bp CT - intron_variant SKCA-BR 12 109483044 109483044 single base substitution A G intron_variant SKCA-BR 12 109484586 109484586 single base substitution C T intron_variant SKCA-BR 12 109486161 109486161 single base substitution G A intron_variant SKCA-BR 12 109486161 109486161 single base substitution G A upstream_gene_variant SKCA-BR 12 109486538 109486540 deletion of <=200bp CTG - intron_variant SKCA-BR 12 109486538 109486540 deletion of <=200bp CTG - upstream_gene_variant SKCA-BR 12 109490315 109490315 single base substitution G A intron_variant SKCA-BR 12 109490315 109490315 single base substitution G A upstream_gene_variant SKCA-BR 12 109490316 109490316 single base substitution G A intron_variant SKCA-BR 12 109490316 109490316 single base substitution G A upstream_gene_variant SKCA-BR 12 109492820 109492820 insertion of <=200bp - TAC intron_variant SKCA-BR 12 109493620 109493620 insertion of <=200bp - TA intron_variant SKCA-BR 12 109496780 109496780 single base substitution T G downstream_gene_variant SKCA-BR 12 109496780 109496780 single base substitution T G intron_variant SKCA-BR 12 109497413 109497413 single base substitution G A downstream_gene_variant SKCA-BR 12 109497413 109497413 single base substitution G A intron_variant SKCA-BR 12 109499198 109499199 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 12 109499198 109499199 deletion of <=200bp TA - intron_variant SKCA-BR 12 109499215 109499215 single base substitution A T downstream_gene_variant SKCA-BR 12 109499215 109499215 single base substitution A T intron_variant SKCA-BR 12 109504489 109504489 insertion of <=200bp - CA intron_variant SKCA-BR 12 109504489 109504489 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 12 109506736 109506736 single base substitution T A intron_variant SKCA-BR 12 109510086 109510086 insertion of <=200bp - GT intron_variant SKCA-BR 12 109514194 109514194 single base substitution T G downstream_gene_variant SKCA-BR 12 109514194 109514194 single base substitution T G intron_variant SKCA-BR 12 109514942 109514942 single base substitution T C downstream_gene_variant SKCA-BR 12 109514942 109514942 single base substitution T C intron_variant SKCA-BR 12 109517144 109517144 single base substitution C T intron_variant SKCA-BR 12 109517144 109517144 single base substitution C T upstream_gene_variant SKCA-BR 12 109517153 109517156 deletion of <=200bp TTTC - intron_variant SKCA-BR 12 109517153 109517156 deletion of <=200bp TTTC - upstream_gene_variant SKCA-BR 12 109517555 109517555 single base substitution C T intron_variant SKCA-BR 12 109517555 109517555 single base substitution C T upstream_gene_variant SKCA-BR 12 109518007 109518007 single base substitution C T intron_variant SKCA-BR 12 109518007 109518007 single base substitution C T upstream_gene_variant SKCA-BR 12 109520381 109520381 single base substitution T C downstream_gene_variant SKCA-BR 12 109520381 109520381 single base substitution T C exon_variant SKCA-BR 12 109520381 109520381 single base substitution T C intron_variant SKCA-BR 12 109520381 109520381 single base substitution T C upstream_gene_variant SKCA-BR 12 109520494 109520494 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 109520494 109520494 single base substitution G A downstream_gene_variant SKCA-BR 12 109520494 109520494 single base substitution G A exon_variant SKCA-BR 12 109520494 109520494 single base substitution G A synonymous_variant G267G 801G>A SKCA-BR 12 109520494 109520494 single base substitution G A synonymous_variant G298G 894G>A SKCA-BR 12 109520494 109520494 single base substitution G A upstream_gene_variant SKCA-BR 12 109526428 109526428 single base substitution A C downstream_gene_variant SKCA-BR 12 109530751 109530751 single base substitution G A downstream_gene_variant SKCM-US 12 109494518 109494518 single base substitution G A intron_variant SKCM-US 12 109494518 109494518 single base substitution G A missense_variant G13S 37G>A SKCM-US 12 109494518 109494518 single base substitution G A missense_variant G39S 115G>A SKCM-US 12 109494518 109494518 single base substitution G A missense_variant G8S 22G>A SKCM-US 12 109494566 109494566 single base substitution C T intron_variant SKCM-US 12 109494566 109494566 single base substitution C T missense_variant P24S 70C>T SKCM-US 12 109494566 109494566 single base substitution C T missense_variant P29S 85C>T SKCM-US 12 109494566 109494566 single base substitution C T missense_variant P55S 163C>T SKCM-US 12 109509423 109509423 single base substitution C T 3_prime_UTR_variant SKCM-US 12 109509423 109509423 single base substitution C T exon_variant SKCM-US 12 109509423 109509423 single base substitution C T missense_variant H102Y 304C>T SKCM-US 12 109509423 109509423 single base substitution C T missense_variant H132Y 394C>T SKCM-US 12 109509423 109509423 single base substitution C T missense_variant H163Y 487C>T SKCM-US 12 109509434 109509434 single base substitution C T 3_prime_UTR_variant SKCM-US 12 109509434 109509434 single base substitution C T exon_variant SKCM-US 12 109509434 109509434 single base substitution C T synonymous_variant F105F 315C>T SKCM-US 12 109509434 109509434 single base substitution C T synonymous_variant F135F 405C>T SKCM-US 12 109509434 109509434 single base substitution C T synonymous_variant F166F 498C>T SKCM-US 12 109511303 109511303 single base substitution C T 3_prime_UTR_variant SKCM-US 12 109511303 109511303 single base substitution C T downstream_gene_variant SKCM-US 12 109511303 109511303 single base substitution C T exon_variant SKCM-US 12 109511303 109511303 single base substitution C T missense_variant T198I 593C>T SKCM-US 12 109511303 109511303 single base substitution C T missense_variant T229I 686C>T SKCM-US 12 109519148 109519148 single base substitution C T 3_prime_UTR_variant SKCM-US 12 109519148 109519148 single base substitution C T exon_variant SKCM-US 12 109519148 109519148 single base substitution C T stop_gained R213* 637C>T SKCM-US 12 109519148 109519148 single base substitution C T stop_gained R244* 730C>T SKCM-US 12 109519148 109519148 single base substitution C T upstream_gene_variant SKCM-US 12 109523491 109523491 single base substitution C T downstream_gene_variant SKCM-US 12 109523491 109523491 single base substitution C T exon_variant SKCM-US 12 109523491 109523491 single base substitution C T missense_variant R406W 1216C>T SKCM-US 12 109523491 109523491 single base substitution C T missense_variant R437W 1309C>T SKCM-US 12 109523515 109523515 single base substitution C A downstream_gene_variant SKCM-US 12 109523515 109523515 single base substitution C A exon_variant SKCM-US 12 109523515 109523515 single base substitution C A missense_variant H414N 1240C>A SKCM-US 12 109523515 109523515 single base substitution C A missense_variant H445N 1333C>A SKCM-US 12 109527892 109527892 single base substitution C T downstream_gene_variant SKCM-US 12 109527987 109527987 single base substitution G A downstream_gene_variant SKCM-US 12 109530455 109530455 single base substitution G A downstream_gene_variant SKCM-US 12 109530456 109530456 single base substitution G A downstream_gene_variant SKCM-US 12 109530566 109530566 single base substitution G T downstream_gene_variant STAD-US 12 109509448 109509448 single base substitution C T 3_prime_UTR_variant STAD-US 12 109509448 109509448 single base substitution C T exon_variant STAD-US 12 109509448 109509448 single base substitution C T missense_variant S110L 329C>T STAD-US 12 109509448 109509448 single base substitution C T missense_variant S140L 419C>T STAD-US 12 109509448 109509448 single base substitution C T missense_variant S171L 512C>T STAD-US 12 109509471 109509471 single base substitution C T 3_prime_UTR_variant STAD-US 12 109509471 109509471 single base substitution C T exon_variant STAD-US 12 109509471 109509471 single base substitution C T missense_variant R118C 352C>T STAD-US 12 109509471 109509471 single base substitution C T missense_variant R148C 442C>T STAD-US 12 109509471 109509471 single base substitution C T missense_variant R179C 535C>T STAD-US 12 109519161 109519161 single base substitution T C 3_prime_UTR_variant STAD-US 12 109519161 109519161 single base substitution T C exon_variant STAD-US 12 109519161 109519161 single base substitution T C missense_variant F217S 650T>C STAD-US 12 109519161 109519161 single base substitution T C missense_variant F248S 743T>C STAD-US 12 109519161 109519161 single base substitution T C upstream_gene_variant STAD-US 12 109520724 109520724 single base substitution A G downstream_gene_variant STAD-US 12 109520724 109520724 single base substitution A G exon_variant STAD-US 12 109520724 109520724 single base substitution A G missense_variant H311R 932A>G STAD-US 12 109520724 109520724 single base substitution A G missense_variant H342R 1025A>G STAD-US 12 109520724 109520724 single base substitution A G upstream_gene_variant STAD-US 12 109523509 109523509 single base substitution G A downstream_gene_variant STAD-US 12 109523509 109523509 single base substitution G A exon_variant STAD-US 12 109523509 109523509 single base substitution G A missense_variant V412I 1234G>A STAD-US 12 109523509 109523509 single base substitution G A missense_variant V443I 1327G>A STAD-US 12 109523552 109523552 single base substitution G A downstream_gene_variant STAD-US 12 109523552 109523552 single base substitution G A exon_variant STAD-US 12 109523552 109523552 single base substitution G A missense_variant R426Q 1277G>A STAD-US 12 109523552 109523552 single base substitution G A missense_variant R457Q 1370G>A STAD-US 12 109523603 109523603 single base substitution T C downstream_gene_variant STAD-US 12 109523603 109523603 single base substitution T C exon_variant STAD-US 12 109523603 109523603 single base substitution T C missense_variant L443P 1328T>C STAD-US 12 109523603 109523603 single base substitution T C missense_variant L474P 1421T>C STAD-US 12 109526014 109526014 deletion of <=200bp T - downstream_gene_variant STAD-US 12 109527862 109527862 single base substitution T C downstream_gene_variant THCA-SA 12 109520769 109520769 single base substitution A G downstream_gene_variant THCA-SA 12 109520769 109520769 single base substitution A G exon_variant THCA-SA 12 109520769 109520769 single base substitution A G missense_variant H326R 977A>G THCA-SA 12 109520769 109520769 single base substitution A G missense_variant H357R 1070A>G THCA-SA 12 109520769 109520769 single base substitution A G upstream_gene_variant UCEC-US 12 109509448 109509448 single base substitution C T 3_prime_UTR_variant UCEC-US 12 109509448 109509448 single base substitution C T exon_variant UCEC-US 12 109509448 109509448 single base substitution C T missense_variant S110L 329C>T UCEC-US 12 109509448 109509448 single base substitution C T missense_variant S140L 419C>T UCEC-US 12 109509448 109509448 single base substitution C T missense_variant S171L 512C>T UCEC-US 12 109509466 109509466 single base substitution G A 3_prime_UTR_variant UCEC-US 12 109509466 109509466 single base substitution G A exon_variant UCEC-US 12 109509466 109509466 single base substitution G A missense_variant R116Q 347G>A UCEC-US 12 109509466 109509466 single base substitution G A missense_variant R146Q 437G>A UCEC-US 12 109509466 109509466 single base substitution G A missense_variant R177Q 530G>A UCEC-US 12 109509480 109509480 single base substitution C T 3_prime_UTR_variant UCEC-US 12 109509480 109509480 single base substitution C T exon_variant UCEC-US 12 109509480 109509480 single base substitution C T missense_variant R121W 361C>T UCEC-US 12 109509480 109509480 single base substitution C T missense_variant R151W 451C>T UCEC-US 12 109509480 109509480 single base substitution C T missense_variant R182W 544C>T UCEC-US 12 109519157 109519157 single base substitution A G 3_prime_UTR_variant UCEC-US 12 109519157 109519157 single base substitution A G exon_variant UCEC-US 12 109519157 109519157 single base substitution A G missense_variant T216A 646A>G UCEC-US 12 109519157 109519157 single base substitution A G missense_variant T247A 739A>G UCEC-US 12 109519157 109519157 single base substitution A G upstream_gene_variant UCEC-US 12 109519795 109519795 single base substitution C T 3_prime_UTR_variant UCEC-US 12 109519795 109519795 single base substitution C T downstream_gene_variant UCEC-US 12 109519795 109519795 single base substitution C T missense_variant R249W 745C>T UCEC-US 12 109519795 109519795 single base substitution C T missense_variant R280W 838C>T UCEC-US 12 109519795 109519795 single base substitution C T upstream_gene_variant UCEC-US 12 109520774 109520774 single base substitution C A downstream_gene_variant UCEC-US 12 109520774 109520774 single base substitution C A exon_variant UCEC-US 12 109520774 109520774 single base substitution C A missense_variant L328I 982C>A UCEC-US 12 109520774 109520774 single base substitution C A missense_variant L359I 1075C>A UCEC-US 12 109520774 109520774 single base substitution C A upstream_gene_variant UCEC-US 12 109522831 109522831 single base substitution G A downstream_gene_variant UCEC-US 12 109522831 109522831 single base substitution G A exon_variant UCEC-US 12 109522831 109522831 single base substitution G A synonymous_variant T383T 1149G>A UCEC-US 12 109522831 109522831 single base substitution G A synonymous_variant T414T 1242G>A UCEC-US 12 109522831 109522831 single base substitution G A upstream_gene_variant UCEC-US 12 109522840 109522840 single base substitution G A downstream_gene_variant UCEC-US 12 109522840 109522840 single base substitution G A exon_variant UCEC-US 12 109522840 109522840 single base substitution G A synonymous_variant A386A 1158G>A UCEC-US 12 109522840 109522840 single base substitution G A synonymous_variant A417A 1251G>A UCEC-US 12 109522840 109522840 single base substitution G A upstream_gene_variant UCEC-US 12 109523471 109523471 single base substitution G T downstream_gene_variant UCEC-US 12 109523471 109523471 single base substitution G T splice_acceptor_variant UCEC-US 12 109523641 109523641 single base substitution C T downstream_gene_variant UCEC-US 12 109523641 109523641 single base substitution C T exon_variant UCEC-US 12 109523641 109523641 single base substitution C T stop_gained Q456* 1366C>T UCEC-US 12 109523641 109523641 single base substitution C T stop_gained Q487* 1459C>T UCEC-US 12 109523662 109523662 single base substitution G A downstream_gene_variant UCEC-US 12 109523662 109523662 single base substitution G A exon_variant UCEC-US 12 109523662 109523662 single base substitution G A missense_variant A463T 1387G>A UCEC-US 12 109523662 109523662 single base substitution G A missense_variant A494T 1480G>A UCEC-US 12 109523683 109523683 single base substitution C T downstream_gene_variant UCEC-US 12 109523683 109523683 single base substitution C T exon_variant UCEC-US 12 109523683 109523683 single base substitution C T missense_variant R470C 1408C>T UCEC-US 12 109523683 109523683 single base substitution C T missense_variant R501C 1501C>T UCEC-US 12 109527846 109527846 single base substitution A G downstream_gene_variant UCEC-US 12 109527868 109527868 single base substitution C T downstream_gene_variant UCEC-US 12 109527909 109527909 single base substitution C T downstream_gene_variant UCEC-US 12 109527945 109527945 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A056-01 COSM934671 c.1251G>A p.A417A Substitution - coding silent 12:109085035-109085035 + TCGA-FP-A4BE-01 COSM4038445 c.1327G>A p.V443I Substitution - Missense 12:109085704-109085704 + LAU63 COSM233730 c.1075C>T p.L359F Substitution - Missense 12:109082969-109082969 + KM12 COSM1946029 c.1241C>T p.T414M Substitution - Missense 12:109085025-109085025 + BD101T COSM5507375 c.1263C>G p.F421L Substitution - Missense 12:109085047-109085047 + TCGA-AP-A059-01 COSM934673 c.1459C>T p.Q487* Substitution - Nonsense 12:109085836-109085836 + pfg034T COSM4760009 c.674A>T p.H225L Substitution - Missense 12:109073486-109073486 + GC6_T COSM147604 c.324G>C p.K108N Substitution - Missense 12:109058056-109058056 + TCGA-BR-6452-01 COSM4038443 c.743T>C p.F248S Substitution - Missense 12:109081356-109081356 + 105T COSM1237971 c.1441G>A p.V481I Substitution - Missense 12:109085818-109085818 + TCGA-D1-A17Q-01 COSM934663 c.530G>A p.R177Q Substitution - Missense 12:109071661-109071661 + TCGA-AP-A05N-01 COSM934675 c.1501C>T p.R501C Substitution - Missense 12:109085878-109085878 + CN-AML-NR-08-Dx COSM147605 c.771C>T p.A257A Substitution - coding silent 12:109081384-109081384 + TCGA-CG-4440-01 COSM4038446 c.1370G>A p.R457Q Substitution - Missense 12:109085747-109085747 + TCGA-B1-A654-01 COSM4414421 c.49A>T p.I17F Substitution - Missense 12:109052727-109052727 + ME009T COSM223587 c.526G>A p.E176K Substitution - Missense 12:109071657-109071657 + CHC1041T COSM216998 c.702_720+7del26 p.? Unknown 12:109073514-109073539 + TCGA-ER-A193-06 COSM3455722 c.115G>A p.G39S Substitution - Missense 12:109056713-109056713 + ESCC_82 COSM5636034 c.699C>G p.V233V Substitution - coding silent 12:109073511-109073511 + sysucc-1163T COSM5458324 c.1005G>A p.T335T Substitution - coding silent 12:109082899-109082899 + TCGA-D5-6540-01 COSM1358570 c.884C>T p.T295M Substitution - Missense 12:109082679-109082679 + TCGA-D1-A174-01 COSM934667 c.838C>T p.R280W Substitution - Missense 12:109081990-109081990 + 100879 COSM95452 c.570T>G p.H190Q Substitution - Missense 12:109071701-109071701 + TCGA-CA-6718-01 COSM3752880 c.731G>A p.R244Q Substitution - Missense 12:109081344-109081344 + C086 COSM5541483 c.256C>T p.L86L Substitution - coding silent 12:109057988-109057988 + 169 COSM934667 c.838C>T p.R280W Substitution - Missense 12:109081990-109081990 + TCGA-FW-A3R5-06 COSM3870673 c.487C>T p.H163Y Substitution - Missense 12:109071618-109071618 + TCGA-66-2785-01 COSM691370 c.599C>G p.P200R Substitution - Missense 12:109072324-109072324 + H1155 COSM1195569 c.353T>C p.L118S Substitution - Missense 12:109058085-109058085 + TCGA-AO-A12E-01 COSM3810914 c.171A>G p.T57T Substitution - coding silent 12:109056769-109056769 + S00936 COSM316405 c.212T>C p.V71A Substitution - Missense 12:109057944-109057944 + TCGA-26-5139-01 COSM3398312 c.312C>A p.S104S Substitution - coding silent 12:109058044-109058044 + HCC036T COSM5818025 c.144A>T p.G48G Substitution - coding silent 12:109056742-109056742 + PT50 COSM5937587 c.827C>T p.S276L Substitution - Missense 12:109081979-109081979 + BK0020 COSM4186222 c.1147G>T p.G383W Substitution - Missense 12:109083041-109083041 + TCGA-66-2793-01 COSM691368 c.898A>G p.K300E Substitution - Missense 12:109082693-109082693 + TCGA-EI-6917-01 COSM1946015 c.490G>A p.E164K Substitution - Missense 12:109071621-109071621 + TCGA-BR-4292-01 COSM4038442 c.535C>T p.R179C Substitution - Missense 12:109071666-109071666 + PT48 COSM5933174 c.350C>T p.S117F Substitution - Missense 12:109058082-109058082 + TCGA-FW-A3R5-06 COSM3870674 c.686C>T p.T229I Substitution - Missense 12:109073498-109073498 + V-PH-12T COSM4770362 c.970C>G p.H324D Substitution - Missense 12:109082864-109082864 + TCGA-A8-A0A6-01 COSM3810915 c.610A>C p.T204P Substitution - Missense 12:109072335-109072335 + TCGA-21-5787-01 COSM691369 c.895G>T p.E299* Substitution - Nonsense 12:109082690-109082690 + CN-AML-08-T COSM147605 c.771C>T p.A257A Substitution - coding silent 12:109081384-109081384 + HCC61T COSM1605531 c.1405A>C p.T469P Substitution - Missense 12:109085782-109085782 + TCGA-D1-A17D-01 COSM934664 c.544C>T p.R182W Substitution - Missense 12:109071675-109071675 + TCGA-EE-A2GI-06 COSM3455724 c.1309C>T p.R437W Substitution - Missense 12:109085686-109085686 + TCGA-BS-A0UL-01 COSM934666 c.739A>G p.T247A Substitution - Missense 12:109081352-109081352 + TCGA-BS-A0UA-01 COSM934675 c.1501C>T p.R501C Substitution - Missense 12:109085878-109085878 + TCGA-BP-4167-01 COSM1135294 c.752T>C p.L251P Substitution - Missense 12:109081365-109081365 + GC8_T COSM147605 c.771C>T p.A257A Substitution - coding silent 12:109081384-109081384 + TCGA-HU-A4H8-01 COSM4038442 c.535C>T p.R179C Substitution - Missense 12:109071666-109071666 + TCGA-AX-A05Z-01 COSM934662 c.512C>T p.S171L Substitution - Missense 12:109071643-109071643 + HCC2998 COSM1358569 c.730C>T p.R244* Substitution - Nonsense 12:109081343-109081343 + TCGA-AP-A051-01 COSM934670 c.1242G>A p.T414T Substitution - coding silent 12:109085026-109085026 + ESCC_158 COSM1946020 c.839G>A p.R280Q Substitution - Missense 12:109081991-109081991 + LUAD-CHTN-3090346 COSM356738 c.667C>T p.P223S Substitution - Missense 12:109073479-109073479 + MedB-1 COSM5622118 c.651C>A p.H217Q Substitution - Missense 12:109073463-109073463 + Pat_41_B COSM5840041 c.1534G>A p.E512K Substitution - Missense 12:109085911-109085911 + BZ30 COSM5758852 c.721-2A>T p.? Unknown 12:109081332-109081332 + TCGA-AG-A002-01 COSM264603 c.184C>T p.R62C Substitution - Missense 12:109056782-109056782 + TCGA-HT-7620-01 COSM3967961 c.781-1G>A p.? Unknown 12:109081932-109081932 + ESCC_BICR_067T COSM934675 c.1501C>T p.R501C Substitution - Missense 12:109085878-109085878 + Au3 COSM5602581 c.894G>A p.G298G Substitution - coding silent 12:109082689-109082689 + SNUH_G16_S1 COSM3998654 c.1070A>C p.H357P Substitution - Missense 12:109082964-109082964 + TCGA-34-2596-01 COSM691367 c.1017G>A p.R339R Substitution - coding silent 12:109082911-109082911 + ESCC_BICR_049T COSM934667 c.838C>T p.R280W Substitution - Missense 12:109081990-109081990 + CSCC-32-T COSM4561352 c.880G>A p.G294R Substitution - Missense 12:109082675-109082675 + CHC1041T COSM216998 c.702_720+7del26 p.? Unknown 12:109073514-109073539 + TCGA-EE-A29D-06 COSM3455723 c.163C>T p.P55S Substitution - Missense 12:109056761-109056761 + BD171T COSM3870673 c.487C>T p.H163Y Substitution - Missense 12:109071618-109071618 + TCGA-KK-A59V-01 COSM4878178 c.1237C>T p.P413S Substitution - Missense 12:109085021-109085021 + TCGA-G9-7521-01 COSM1470506 c.735T>G p.F245L Substitution - Missense 12:109081348-109081348 + TCGA-B5-A0K9-01 COSM934672 c.1290-1G>T p.? Unknown 12:109085666-109085666 + cSCCP8 COSM140700 c.1531C>A p.Q511K Substitution - Missense 12:109085908-109085908 + CHC2358T COSM4953221 c.1000G>T p.G334C Substitution - Missense 12:109082894-109082894 + CSCC-47-T COSM4525558 c.1339G>A p.D447N Substitution - Missense 12:109085716-109085716 + TCGA-AX-A0J1-01 COSM934675 c.1501C>T p.R501C Substitution - Missense 12:109085878-109085878 + PR-2916 COSM248242 c.122T>C p.I41T Substitution - Missense 12:109056720-109056720 + HCC2998 COSM1358569 c.730C>T p.R244* Substitution - Nonsense 12:109081343-109081343 + OSCC-GB_01330111 COSM1946033 c.1374G>A p.R458R Substitution - coding silent 12:109085751-109085751 + TCGA-EJ-A65E-01 COSM4393212 c.1470G>T p.L490L Substitution - coding silent 12:109085847-109085847 + TCGA-B5-A0K6-01 COSM934668 c.885G>A p.T295T Substitution - coding silent 12:109082680-109082680 + BK0076 COSM4188695 c.643T>A p.S215T Substitution - Missense 12:109073455-109073455 + 2492726 COSM5725323 c.836T>C p.V279A Substitution - Missense 12:109081988-109081988 + TCGA-EI-6507-01 COSM1561857 c.1373G>A p.R458Q Substitution - Missense 12:109085750-109085750 + YUAKER COSM1706239 c.443G>T p.R148I Substitution - Missense 12:109067590-109067590 + TCGA-EE-A183-06 COSM3455725 c.1333C>A p.H445N Substitution - Missense 12:109085710-109085710 + 1_RESISTANT COSM1720947 c.1074C>T p.L358L Substitution - coding silent 12:109082968-109082968 + B60-Tumor COSM1746720 c.1461G>A p.Q487Q Substitution - coding silent 12:109085838-109085838 + Pat_24_B COSM5840040 c.860G>A p.C287Y Substitution - Missense 12:109082012-109082012 + SNUH_G15_S1 COSM3676353 c.1273G>T p.V425F Substitution - Missense 12:109085057-109085057 + ESCC_162 COSM5647813 c.1399C>G p.L467V Substitution - Missense 12:109085776-109085776 + 1_PRE-TREATMENT COSM1720947 c.1074C>T p.L358L Substitution - coding silent 12:109082968-109082968 + T3658 COSM4739756 c.1504G>A p.V502I Substitution - Missense 12:109085881-109085881 + RK210_C01 COSM3739410 c.1121C>T p.P374L Substitution - Missense 12:109083015-109083015 + PCSI_0104_Pa_P_526 COSM4961740 c.1412A>G p.N471S Substitution - Missense 12:109085789-109085789 + TCGA-EE-A3JD-06 COSM4393849 c.498C>T p.F166F Substitution - coding silent 12:109071629-109071629 + TCGA-BD-A3EP-01 COSM4911763 c.783T>C p.G261G Substitution - coding silent 12:109081935-109081935 + SW1463 COSM1946039 c.1553G>T p.*518L Nonstop extension 12:109085930-109085930 + TCGA-D9-A3Z4-01 COSM1358569 c.730C>T p.R244* Substitution - Nonsense 12:109081343-109081343 + CRC-06T COSM5456256 c.1132C>T p.L378L Substitution - coding silent 12:109083026-109083026 + HT29 COSM4638492 c.140C>A p.A47E Substitution - Missense 12:109056738-109056738 + CHC2358T COSM4953221 c.1000G>T p.G334C Substitution - Missense 12:109082894-109082894 + H460 COSM1196977 c.724C>T p.P242S Substitution - Missense 12:109081337-109081337 + TCGA-CG-5721-01 COSM4038444 c.1025A>G p.H342R Substitution - Missense 12:109082919-109082919 + TCGA-AP-A0LM-01 COSM934669 c.1075C>A p.L359I Substitution - Missense 12:109082969-109082969 + TCGA-D1-A17Q-01 COSM934674 c.1480G>A p.A494T Substitution - Missense 12:109085857-109085857 + 6948_CLM COSM5753854 c.1444C>T p.R482C Substitution - Missense 12:109085821-109085821 + CHC1041T COSM216998 c.702_720+7del26 p.? Unknown 12:109073514-109073539 + CSCC-38-T COSM4537079 c.237G>A p.M79I Substitution - Missense 12:109057969-109057969 + 1N27-VS-1T27 COSM4973630 c.1437C>T p.D479D Substitution - coding silent 12:109085814-109085814 + TCGA-60-2723-01 COSM691366 c.1302C>T p.Y434Y Substitution - coding silent 12:109085679-109085679 + LIM1899 COSM4639823 c.1377C>T p.S459S Substitution - coding silent 12:109085754-109085754 + 587278 COSM1232023 c.133C>A p.L45I Substitution - Missense 12:109056731-109056731 + TCGA-BS-A0UL-01 COSM934665 c.617G>A p.R206H Substitution - Missense 12:109072342-109072342 + TCGA-BR-8591-01 COSM4038447 c.1421T>C p.L474P Substitution - Missense 12:109085798-109085798 + B60 COSM1746720 c.1461G>A p.Q487Q Substitution - coding silent 12:109085838-109085838 + CSCC-16-T COSM4467207 c.1476C>T p.S492S Substitution - coding silent 12:109085853-109085853 + ccRCC-24 COSM1664917 c.535C>A p.R179S Substitution - Missense 12:109071666-109071666 + SNUH_G76_S1 COSM4419308 c.1070A>G p.H357R Substitution - Missense 12:109082964-109082964 + TCGA-HF-7132-01 COSM934662 c.512C>T p.S171L Substitution - Missense 12:109071643-109071643 + HT115 COSM1946019 c.772G>A p.A258T Substitution - Missense 12:109081385-109081385 + TCGA-74-6578-01 COSM3398313 c.513G>A p.S171S Substitution - coding silent 12:109071644-109071644 + NCI-H460 COSM1196977 c.724C>T p.P242S Substitution - Missense 12:109081337-109081337 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.486434 12q24.11 612492

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.K300E c.898A>G 12 109520498 LUSC A G Missense p.T247A c.739A>G 12 109519157 UCEC C A Missense p.P460T c.1378C>A 12 109523560 LUAD C A Synonymous p.S104S c.312C>A 12 109495849 GBM - CGGCGG 5-UTRInsertion . c.1-57_1-56insCGGCGG 12 109490427 RCCC - CGGCGG 5-UTRInsertion . c.1-57_1-56insCGGCGG 12 109490427 STAD C G Missense p.H113Q c.339C>G 12 109495876 HNSC C T Missense p.P422L c.1265C>T 12 109522854 HNSC C T Missense p.P422S c.1264C>T 12 109522853 HNSC C T Missense p.R179C c.535C>T 12 109509471 STAD C T Missense p.R182W c.544C>T 12 109509480 UCEC C T Missense p.R280W c.838C>T 12 109519795 UCEC C T Missense p.R437W c.1309C>T 12 109523491 CM C T Missense p.R501C c.1501C>T 12 109523683 UCEC C T Synonymous p.F166F c.498C>T 12 109509434 CM C T Synonymous p.H449H c.1347C>T 12 109523529 CM C T Synonymous p.Y434Y c.1302C>T 12 109523484 LUSC G A Missense p.E176K c.526G>A 12 109509462 CM G A Missense p.G39S c.115G>A 12 109494518 CM G A Missense p.R457Q c.1370G>A 12 109523552 STAD G A SpliceAcceptorSNV . c.781-1G>A 12 109519737 LGG G A Synonymous p.R339R c.1017G>A 12 109520716 LUSC G A Synonymous p.S171S c.513G>A 12 109509449 GBM G C Missense p.E58Q c.172G>C 12 109494575 LUAD GG AA Missense p.G446K c.1336_1337delinsAA 12 109523518 CM G T Nonsense p.E299* c.895G>T 12 109520495 LUSC G T SpliceAcceptorSNV . c.1290-1G>T 12 109523471 UCEC G T Synonymous p.L490L c.1470G>T 12 109523652 PRAD T A Missense p.F245Y c.734T>A 12 109519152 CM T C Missense p.V132A c.395T>C 12 109505347 CM T C Missense p.V71A c.212T>C 12 109495749 SCLC T G Missense p.F245L c.735T>G 12 109519153 PRAD