Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 106497939 106497939 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr2:106497939G>A c.382G>A c.(382-384)Gat>Aat p.D128N BLCA 2 106498105 106498105 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 g.chr2:106498105G>A c.548G>A c.(547-549)cGc>cAc p.R183H BLCA 2 106498138 106498138 + Missense_Mutation SNP C C T TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chr2:106498138C>T c.581C>T c.(580-582)tCc>tTc p.S194F BLCA 2 106498229 106498229 + Silent SNP G G C TCGA-E7-A7DV-01A-11D-A339-08 TCGA-E7-A7DV-10A-01D-A339-08 g.chr2:106498229G>C c.672G>C c.(670-672)gtG>gtC p.V224V BLCA 2 106498397 106498397 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr2:106498397C>T c.840C>T c.(838-840)ttC>ttT p.F280F BLCA 2 106498407 106498407 + Missense_Mutation SNP G G C TCGA-ZF-AA53-01A-11D-A391-08 TCGA-ZF-AA53-10A-01D-A394-08 g.chr2:106498407G>C c.850G>C c.(850-852)Gag>Cag p.E284Q BLCA 2 106498419 106498419 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 g.chr2:106498419G>A c.862G>A c.(862-864)Ggg>Agg p.G288R BLCA 2 106509608 106509608 + Silent SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr2:106509608C>G c.1119C>G c.(1117-1119)ctC>ctG p.L373L BRCA 2 106471553 106471553 + Missense_Mutation SNP G G T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 g.chr2:106471553G>T c.34G>T c.(34-36)Gac>Tac p.D12Y BRCA 2 106497971 106497971 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr2:106497971C>T c.414C>T c.(412-414)gtC>gtT p.V138V BRCA 2 106509512 106509512 + Silent SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 g.chr2:106509512C>T c.1023C>T c.(1021-1023)gtC>gtT p.V341V CESC 2 106471654 106471654 + Silent SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 g.chr2:106471654C>A c.135C>A c.(133-135)gcC>gcA p.A45A CHOL 2 106471558 106471558 + Silent SNP C C T TCGA-W5-AA2R-01A-11D-A417-09 TCGA-W5-AA2R-10A-01D-A41A-09 g.chr2:106471558C>T c.39C>T c.(37-39)taC>taT p.Y13Y COAD 2 106471535 106471535 + Missense_Mutation SNP A A T TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr2:106471535A>T c.16A>T c.(16-18)Att>Ttt p.I6F COAD 2 106471730 106471730 + Silent SNP C C T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr2:106471730C>T c.211C>T c.(211-213)Ctg>Ttg p.L71L COAD 2 106497917 106497917 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:106497917C>T c.360C>T c.(358-360)ttC>ttT p.F120F COAD 2 106497917 106497917 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:106497917C>T c.360C>T c.(358-360)ttC>ttT p.F120F COAD 2 106498149 106498149 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr2:106498149C>T c.592C>T c.(592-594)Cat>Tat p.H198Y COAD 2 106498382 106498382 + Silent SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr2:106498382G>A c.825G>A c.(823-825)tcG>tcA p.S275S COAD 2 106498393 106498393 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:106498393G>A c.836G>A c.(835-837)cGc>cAc p.R279H COAD 2 106509531 106509531 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr2:106509531C>T c.1042C>T c.(1042-1044)Cgc>Tgc p.R348C COADREAD 2 106471535 106471535 + Missense_Mutation SNP A A T TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr2:106471535A>T c.16A>T c.(16-18)Att>Ttt p.I6F COADREAD 2 106471730 106471730 + Silent SNP C C T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr2:106471730C>T c.211C>T c.(211-213)Ctg>Ttg p.L71L COADREAD 2 106497813 106497813 + Missense_Mutation SNP G G A TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr2:106497813G>A c.256G>A c.(256-258)Gcg>Acg p.A86T COADREAD 2 106497917 106497917 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:106497917C>T c.360C>T c.(358-360)ttC>ttT p.F120F COADREAD 2 106497917 106497917 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:106497917C>T c.360C>T c.(358-360)ttC>ttT p.F120F COADREAD 2 106498149 106498149 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr2:106498149C>T c.592C>T c.(592-594)Cat>Tat p.H198Y COADREAD 2 106498382 106498382 + Silent SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr2:106498382G>A c.825G>A c.(823-825)tcG>tcA p.S275S COADREAD 2 106498393 106498393 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:106498393G>A c.836G>A c.(835-837)cGc>cAc p.R279H COADREAD 2 106509531 106509531 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr2:106509531C>T c.1042C>T c.(1042-1044)Cgc>Tgc p.R348C ESCA 2 106471533 106471533 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 g.chr2:106471533T>G c.14T>G c.(13-15)gTt>gGt p.V5G ESCA 2 106471692 106471692 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 g.chr2:106471692G>T c.173G>T c.(172-174)cGg>cTg p.R58L ESCA 2 106498469 106498469 + Silent SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 g.chr2:106498469G>A c.912G>A c.(910-912)gtG>gtA p.V304V HNSC 2 106497876 106497876 + Missense_Mutation SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 g.chr2:106497876G>A c.319G>A c.(319-321)Gac>Aac p.D107N HNSC 2 106497977 106497977 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chr2:106497977C>T c.420C>T c.(418-420)gtC>gtT p.V140V HNSC 2 106497991 106497991 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr2:106497991G>A c.434G>A c.(433-435)aGc>aAc p.S145N HNSC 2 106497993 106497993 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 g.chr2:106497993G>A c.436G>A c.(436-438)Gac>Aac p.D146N HNSC 2 106498068 106498068 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 g.chr2:106498068G>A c.511G>A c.(511-513)Gag>Aag p.E171K HNSC 2 106498121 106498121 + Silent SNP G G A TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 g.chr2:106498121G>A c.564G>A c.(562-564)ctG>ctA p.L188L HNSC 2 106498358 106498358 + Silent SNP A A G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 g.chr2:106498358A>G c.801A>G c.(799-801)ccA>ccG p.P267P HNSC 2 106498397 106498397 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 g.chr2:106498397C>T c.840C>T c.(838-840)ttC>ttT p.F280F HNSC 2 106498429 106498429 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr2:106498429C>T c.872C>T c.(871-873)aCg>aTg p.T291M HNSC 2 106509493 106509493 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr2:106509493T>C c.1004T>C c.(1003-1005)gTg>gCg p.V335A HNSC 2 106509549 106509549 + Missense_Mutation SNP G G C TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 g.chr2:106509549G>C c.1060G>C c.(1060-1062)Gag>Cag p.E354Q KICH 2 106509538 106509538 + Missense_Mutation SNP A A G TCGA-KM-8441-01A-11D-2310-10 TCGA-KM-8441-10A-01D-2311-10 g.chr2:106509538A>G c.1049A>G c.(1048-1050)cAc>cGc p.H350R KIPAN 2 106509538 106509538 + Missense_Mutation SNP A A G TCGA-KM-8441-01A-11D-2310-10 TCGA-KM-8441-10A-01D-2311-10 g.chr2:106509538A>G c.1049A>G c.(1048-1050)cAc>cGc p.H350R LIHC 2 106497846 106497846 + Missense_Mutation SNP G G A TCGA-2Y-A9GT-01A-11D-A382-10 TCGA-2Y-A9GT-10A-01D-A385-10 g.chr2:106497846G>A c.289G>A c.(289-291)Gcc>Acc p.A97T LIHC 2 106498261 106498261 + Nonsense_Mutation SNP G G A TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr2:106498261G>A c.704G>A c.(703-705)tGg>tAg p.W235* LUAD 2 106497818 106497818 + Silent SNP G G A TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr2:106497818G>A c.261G>A c.(259-261)cgG>cgA p.R87R LUAD 2 106497819 106497819 + Missense_Mutation SNP G G T TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr2:106497819G>T c.262G>T c.(262-264)Gat>Tat p.D88Y LUAD 2 106497870 106497870 + Missense_Mutation SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 g.chr2:106497870G>A c.313G>A c.(313-315)Ggc>Agc p.G105S LUAD 2 106498084 106498084 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr2:106498084C>G c.527C>G c.(526-528)tCc>tGc p.S176C LUAD 2 106498290 106498290 + Missense_Mutation SNP G G T TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chr2:106498290G>T c.733G>T c.(733-735)Ggc>Tgc p.G245C LUAD 2 106498387 106498387 + Missense_Mutation SNP G G T TCGA-97-8174-01A-11D-2284-08 TCGA-97-8174-10A-01D-2284-08 g.chr2:106498387G>T c.830G>T c.(829-831)aGc>aTc p.S277I LUAD 2 106498470 106498470 + Nonsense_Mutation SNP G G T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr2:106498470G>T c.913G>T c.(913-915)Gag>Tag p.E305* LUSC 2 106498213 106498213 + Missense_Mutation SNP G G T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 g.chr2:106498213G>T c.656G>T c.(655-657)gGg>gTg p.G219V LUSC 2 106498233 106498233 + Missense_Mutation SNP G G C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 g.chr2:106498233G>C c.676G>C c.(676-678)Gag>Cag p.E226Q OV 2 106471535 106471535 + Missense_Mutation SNP A A T TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 g.chr2:106471535A>T c.16A>T c.(16-18)Att>Ttt p.I6F OV 2 106471603 106471603 + Silent SNP G G T TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 g.chr2:106471603G>T c.84G>T c.(82-84)cgG>cgT p.R28R PAAD 2 106471526 106471526 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:106471526G>A c.7G>A c.(7-9)Gaa>Aaa p.E3K PAAD 2 106498449 106498449 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:106498449G>A c.892G>A c.(892-894)Gcc>Acc p.A298T PAAD 2 106509467 106509467 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:106509467G>A c.978G>A c.(976-978)gcG>gcA p.A326A PRAD 2 106497794 106497794 + Silent SNP G G A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 g.chr2:106497794G>A c.237G>A c.(235-237)aaG>aaA p.K79K READ 2 106497813 106497813 + Missense_Mutation SNP G G A TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr2:106497813G>A c.256G>A c.(256-258)Gcg>Acg p.A86T SARC 2 106471560 106471560 + Missense_Mutation SNP C C G TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 g.chr2:106471560C>G c.41C>G c.(40-42)aCc>aGc p.T14S SKCM 2 106471561 106471561 + Silent SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr2:106471561C>T c.42C>T c.(40-42)acC>acT p.T14T SKCM 2 106497949 106497949 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr2:106497949C>T c.392C>T c.(391-393)tCc>tTc p.S131F SKCM 2 106498299 106498299 + Missense_Mutation SNP C C T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 g.chr2:106498299C>T c.742C>T c.(742-744)Ccc>Tcc p.P248S SKCM 2 106498412 106498412 + Missense_Mutation SNP G G T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 g.chr2:106498412G>T c.855G>T c.(853-855)tgG>tgT p.W285C SKCM 2 106498441 106498441 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr2:106498441C>T c.884C>T c.(883-885)gCc>gTc p.A295V SKCM 2 106509458 106509458 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:106509458C>T c.969C>T c.(967-969)tcC>tcT p.S323S

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 2 106497860 106497860 single base substitution C T intron_variant BLCA-CN 2 106497860 106497860 single base substitution C T synonymous_variant A101A 303C>T BOCA-FR 2 106480610 106480610 single base substitution G A intron_variant BRCA-EU 2 106356923 106356923 single base substitution C A upstream_gene_variant BRCA-EU 2 106358475 106358475 single base substitution C G upstream_gene_variant BRCA-EU 2 106358842 106358842 single base substitution G T upstream_gene_variant BRCA-EU 2 106360260 106360260 single base substitution C G upstream_gene_variant BRCA-EU 2 106360608 106360608 single base substitution C T upstream_gene_variant BRCA-EU 2 106360628 106360628 single base substitution C T upstream_gene_variant BRCA-EU 2 106361243 106361243 single base substitution C T upstream_gene_variant BRCA-EU 2 106363380 106363380 single base substitution G A intron_variant BRCA-EU 2 106363863 106363863 single base substitution C T intron_variant BRCA-EU 2 106366612 106366612 single base substitution C T intron_variant BRCA-EU 2 106367316 106367316 single base substitution C A intron_variant BRCA-EU 2 106368242 106368242 single base substitution T G intron_variant BRCA-EU 2 106368435 106368435 insertion of <=200bp - AT intron_variant BRCA-EU 2 106369455 106369455 single base substitution T A intron_variant BRCA-EU 2 106369474 106369474 single base substitution G A intron_variant BRCA-EU 2 106370398 106370398 single base substitution G T intron_variant BRCA-EU 2 106371320 106371320 deletion of <=200bp A - intron_variant BRCA-EU 2 106375093 106375093 single base substitution C G intron_variant BRCA-EU 2 106375392 106375392 single base substitution G T intron_variant BRCA-EU 2 106378120 106378120 single base substitution A G intron_variant BRCA-EU 2 106379404 106379404 single base substitution C T intron_variant BRCA-EU 2 106379830 106379830 single base substitution C G intron_variant BRCA-EU 2 106380583 106380583 single base substitution C T intron_variant BRCA-EU 2 106381285 106381285 single base substitution C T intron_variant BRCA-EU 2 106381698 106381704 deletion of <=200bp GGACCGT - intron_variant BRCA-EU 2 106384182 106384182 single base substitution G C intron_variant BRCA-EU 2 106386298 106386298 single base substitution G A intron_variant BRCA-EU 2 106387017 106387017 single base substitution A G intron_variant BRCA-EU 2 106387464 106387464 single base substitution C T intron_variant BRCA-EU 2 106389126 106389126 single base substitution C G intron_variant BRCA-EU 2 106389410 106389410 single base substitution G A intron_variant BRCA-EU 2 106391155 106391155 single base substitution T C intron_variant BRCA-EU 2 106393544 106393544 single base substitution G C intron_variant BRCA-EU 2 106394102 106394102 single base substitution G A intron_variant BRCA-EU 2 106394478 106394478 single base substitution T C intron_variant BRCA-EU 2 106394583 106394583 single base substitution G C intron_variant BRCA-EU 2 106396159 106396159 single base substitution T C intron_variant BRCA-EU 2 106396356 106396356 single base substitution C T intron_variant BRCA-EU 2 106396541 106396541 single base substitution T A intron_variant BRCA-EU 2 106397498 106397498 single base substitution G T intron_variant BRCA-EU 2 106399080 106399080 single base substitution C T intron_variant BRCA-EU 2 106400167 106400167 deletion of <=200bp T - intron_variant BRCA-EU 2 106400259 106400259 single base substitution G C intron_variant BRCA-EU 2 106400673 106400673 single base substitution G A intron_variant BRCA-EU 2 106401259 106401259 single base substitution C G intron_variant BRCA-EU 2 106401477 106401477 single base substitution C A intron_variant BRCA-EU 2 106402330 106402330 single base substitution A G intron_variant BRCA-EU 2 106403225 106403225 single base substitution C T intron_variant BRCA-EU 2 106405490 106405490 single base substitution C G intron_variant BRCA-EU 2 106405708 106405708 single base substitution G A intron_variant BRCA-EU 2 106406373 106406373 single base substitution C G intron_variant BRCA-EU 2 106406609 106406609 single base substitution T A intron_variant BRCA-EU 2 106406808 106406808 single base substitution A G intron_variant BRCA-EU 2 106408668 106408668 single base substitution G A intron_variant BRCA-EU 2 106409094 106409094 deletion of <=200bp T - intron_variant BRCA-EU 2 106410862 106410862 single base substitution G A intron_variant BRCA-EU 2 106410911 106410911 single base substitution T C intron_variant BRCA-EU 2 106411063 106411063 single base substitution C G intron_variant BRCA-EU 2 106411194 106411194 single base substitution G A intron_variant BRCA-EU 2 106412300 106412300 single base substitution C G intron_variant BRCA-EU 2 106413160 106413160 insertion of <=200bp - T intron_variant BRCA-EU 2 106415240 106415240 single base substitution A G intron_variant BRCA-EU 2 106415276 106415276 single base substitution C A intron_variant BRCA-EU 2 106416764 106416764 single base substitution C T intron_variant BRCA-EU 2 106419077 106419077 single base substitution C G intron_variant BRCA-EU 2 106420900 106420900 single base substitution T C intron_variant BRCA-EU 2 106424594 106424594 single base substitution A G intron_variant BRCA-EU 2 106424889 106424889 single base substitution C T intron_variant BRCA-EU 2 106425654 106425654 single base substitution G A intron_variant BRCA-EU 2 106425932 106425932 single base substitution G T intron_variant BRCA-EU 2 106426697 106426698 deletion of <=200bp AA - intron_variant BRCA-EU 2 106429434 106429434 single base substitution C A intron_variant BRCA-EU 2 106429434 106429434 single base substitution C A upstream_gene_variant BRCA-EU 2 106431008 106431008 single base substitution A G intron_variant BRCA-EU 2 106431008 106431008 single base substitution A G upstream_gene_variant BRCA-EU 2 106432660 106432660 single base substitution G A intron_variant BRCA-EU 2 106432660 106432660 single base substitution G A upstream_gene_variant BRCA-EU 2 106432781 106432781 deletion of <=200bp A - intron_variant BRCA-EU 2 106432781 106432781 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 106432845 106432845 single base substitution C G intron_variant BRCA-EU 2 106432845 106432845 single base substitution C G upstream_gene_variant BRCA-EU 2 106435083 106435083 single base substitution C G intron_variant BRCA-EU 2 106435243 106435243 single base substitution T C intron_variant BRCA-EU 2 106435406 106435406 single base substitution T C intron_variant BRCA-EU 2 106436820 106436820 single base substitution C T intron_variant BRCA-EU 2 106438730 106438730 single base substitution C T intron_variant BRCA-EU 2 106439248 106439248 single base substitution C T intron_variant BRCA-EU 2 106442871 106442871 single base substitution G T intron_variant BRCA-EU 2 106442883 106442883 single base substitution C G intron_variant BRCA-EU 2 106446170 106446170 single base substitution C T intron_variant BRCA-EU 2 106446233 106446233 single base substitution G T intron_variant BRCA-EU 2 106446243 106446243 single base substitution G A intron_variant BRCA-EU 2 106446244 106446244 single base substitution G C intron_variant BRCA-EU 2 106446305 106446305 single base substitution A G intron_variant BRCA-EU 2 106446868 106446868 insertion of <=200bp - T intron_variant BRCA-EU 2 106447258 106447258 deletion of <=200bp T - intron_variant BRCA-EU 2 106450839 106450839 single base substitution G A intron_variant BRCA-EU 2 106457154 106457154 single base substitution A G intron_variant BRCA-EU 2 106457877 106457877 single base substitution G C intron_variant BRCA-EU 2 106458317 106458317 single base substitution G C intron_variant BRCA-EU 2 106462062 106462062 single base substitution C G intron_variant BRCA-EU 2 106462178 106462178 single base substitution T C intron_variant BRCA-EU 2 106463328 106463328 single base substitution C G intron_variant BRCA-EU 2 106463328 106463328 single base substitution C G upstream_gene_variant BRCA-EU 2 106465958 106465958 single base substitution C T intron_variant BRCA-EU 2 106465958 106465958 single base substitution C T upstream_gene_variant BRCA-EU 2 106467227 106467227 insertion of <=200bp - T intron_variant BRCA-EU 2 106467227 106467227 insertion of <=200bp - T upstream_gene_variant BRCA-EU 2 106467340 106467340 single base substitution C G intron_variant BRCA-EU 2 106467340 106467340 single base substitution C G upstream_gene_variant BRCA-EU 2 106467628 106467628 single base substitution G A intron_variant BRCA-EU 2 106467628 106467628 single base substitution G A upstream_gene_variant BRCA-EU 2 106467818 106467818 single base substitution C T intron_variant BRCA-EU 2 106467818 106467818 single base substitution C T upstream_gene_variant BRCA-EU 2 106468345 106468345 single base substitution C T 5_prime_UTR_variant BRCA-EU 2 106468345 106468345 single base substitution C T intron_variant BRCA-EU 2 106469556 106469556 single base substitution C G intron_variant BRCA-EU 2 106472198 106472198 single base substitution G C intron_variant BRCA-EU 2 106472415 106472415 single base substitution C A intron_variant BRCA-EU 2 106472966 106472966 single base substitution T C intron_variant BRCA-EU 2 106473771 106473771 single base substitution G A intron_variant BRCA-EU 2 106475235 106475235 insertion of <=200bp - A intron_variant BRCA-EU 2 106476004 106476004 single base substitution G A intron_variant BRCA-EU 2 106477906 106477906 single base substitution T G intron_variant BRCA-EU 2 106480014 106480014 single base substitution G T intron_variant BRCA-EU 2 106481908 106481908 single base substitution T G intron_variant BRCA-EU 2 106482285 106482285 single base substitution C T intron_variant BRCA-EU 2 106485457 106485457 single base substitution G A intron_variant BRCA-EU 2 106485709 106485709 single base substitution C T intron_variant BRCA-EU 2 106485967 106485967 single base substitution G A intron_variant BRCA-EU 2 106486320 106486320 single base substitution C T intron_variant BRCA-EU 2 106490531 106490531 single base substitution C T intron_variant BRCA-EU 2 106490659 106490659 single base substitution C T intron_variant BRCA-EU 2 106492200 106492200 single base substitution G A intron_variant BRCA-EU 2 106492676 106492676 single base substitution A G intron_variant BRCA-EU 2 106494384 106494384 single base substitution G C intron_variant BRCA-EU 2 106496100 106496100 single base substitution C G intron_variant BRCA-EU 2 106497046 106497046 single base substitution G C intron_variant BRCA-EU 2 106497243 106497243 single base substitution G A intron_variant BRCA-EU 2 106497570 106497570 single base substitution C T intron_variant BRCA-EU 2 106497722 106497722 single base substitution G C intron_variant BRCA-EU 2 106498392 106498392 single base substitution C T downstream_gene_variant BRCA-EU 2 106498392 106498392 single base substitution C T intron_variant BRCA-EU 2 106498392 106498392 single base substitution C T missense_variant R279C 835C>T BRCA-EU 2 106500346 106500346 single base substitution C A downstream_gene_variant BRCA-EU 2 106500346 106500346 single base substitution C A intron_variant BRCA-EU 2 106500988 106500988 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 106500988 106500988 deletion of <=200bp T - intron_variant BRCA-EU 2 106502515 106502515 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 106502515 106502515 insertion of <=200bp - T intron_variant BRCA-EU 2 106502815 106502815 single base substitution C T downstream_gene_variant BRCA-EU 2 106502815 106502815 single base substitution C T intron_variant BRCA-EU 2 106504064 106504064 single base substitution C G intron_variant BRCA-EU 2 106504821 106504821 single base substitution A G intron_variant BRCA-EU 2 106505713 106505713 single base substitution G C intron_variant BRCA-EU 2 106509036 106509036 single base substitution A G intron_variant BRCA-EU 2 106509681 106509681 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 106509681 106509681 single base substitution C T downstream_gene_variant BRCA-EU 2 106511044 106511044 single base substitution A T downstream_gene_variant BRCA-EU 2 106512280 106512280 single base substitution T C downstream_gene_variant BRCA-EU 2 106512376 106512376 single base substitution A T downstream_gene_variant BRCA-EU 2 106513922 106513922 single base substitution G A downstream_gene_variant BRCA-FR 2 106367316 106367316 single base substitution C A intron_variant BRCA-FR 2 106386298 106386298 single base substitution G A intron_variant BRCA-FR 2 106389410 106389410 single base substitution G A intron_variant BRCA-FR 2 106403225 106403225 single base substitution C T intron_variant BRCA-FR 2 106406373 106406373 single base substitution C G intron_variant BRCA-FR 2 106411063 106411063 single base substitution C G intron_variant BRCA-FR 2 106424131 106424131 single base substitution A C intron_variant BRCA-FR 2 106435406 106435406 single base substitution T C intron_variant BRCA-FR 2 106446170 106446170 single base substitution C T intron_variant BRCA-FR 2 106446244 106446244 single base substitution G C intron_variant BRCA-FR 2 106457154 106457154 single base substitution A G intron_variant BRCA-FR 2 106457877 106457877 single base substitution G C intron_variant BRCA-FR 2 106458317 106458317 single base substitution G C intron_variant BRCA-FR 2 106463328 106463328 single base substitution C G intron_variant BRCA-FR 2 106463328 106463328 single base substitution C G upstream_gene_variant BRCA-FR 2 106467340 106467340 single base substitution C G intron_variant BRCA-FR 2 106467340 106467340 single base substitution C G upstream_gene_variant BRCA-FR 2 106468345 106468345 single base substitution C T 5_prime_UTR_variant BRCA-FR 2 106468345 106468345 single base substitution C T intron_variant BRCA-FR 2 106476004 106476004 single base substitution G A intron_variant BRCA-FR 2 106483634 106483634 single base substitution C G intron_variant BRCA-FR 2 106485709 106485709 single base substitution C T intron_variant BRCA-FR 2 106485967 106485967 single base substitution G A intron_variant BRCA-FR 2 106494384 106494384 single base substitution G C intron_variant BRCA-FR 2 106497046 106497046 single base substitution G C intron_variant BRCA-FR 2 106499355 106499355 single base substitution T G downstream_gene_variant BRCA-FR 2 106499355 106499355 single base substitution T G intron_variant BRCA-FR 2 106508962 106508962 single base substitution A T intron_variant BRCA-UK 2 106361307 106361307 single base substitution C T upstream_gene_variant BRCA-UK 2 106402866 106402866 single base substitution G A intron_variant BRCA-UK 2 106408668 106408668 single base substitution G A intron_variant BRCA-UK 2 106418587 106418587 single base substitution A T intron_variant BRCA-UK 2 106452611 106452611 single base substitution C G intron_variant BRCA-UK 2 106466682 106466682 single base substitution C G intron_variant BRCA-UK 2 106466682 106466682 single base substitution C G upstream_gene_variant BRCA-UK 2 106481908 106481908 single base substitution T G intron_variant BRCA-UK 2 106490659 106490659 single base substitution C T intron_variant BRCA-US 2 106471553 106471553 single base substitution G T missense_variant D12Y 34G>T BRCA-US 2 106497971 106497971 single base substitution C T downstream_gene_variant BRCA-US 2 106497971 106497971 single base substitution C T intron_variant BRCA-US 2 106497971 106497971 single base substitution C T synonymous_variant V138V 414C>T BRCA-US 2 106509512 106509512 single base substitution C T 3_prime_UTR_variant BRCA-US 2 106509512 106509512 single base substitution C T synonymous_variant V341V 1023C>T BTCA-JP 2 106471721 106471721 single base substitution G A missense_variant V68M 202G>A BTCA-JP 2 106498043 106498043 single base substitution C T downstream_gene_variant BTCA-JP 2 106498043 106498043 single base substitution C T intron_variant BTCA-JP 2 106498043 106498043 single base substitution C T synonymous_variant S162S 486C>T BTCA-JP 2 106498113 106498113 single base substitution G A downstream_gene_variant BTCA-JP 2 106498113 106498113 single base substitution G A intron_variant BTCA-JP 2 106498113 106498113 single base substitution G A missense_variant A186T 556G>A BTCA-JP 2 106498247 106498247 single base substitution C T downstream_gene_variant BTCA-JP 2 106498247 106498247 single base substitution C T intron_variant BTCA-JP 2 106498247 106498247 single base substitution C T synonymous_variant N230N 690C>T BTCA-JP 2 106498424 106498424 single base substitution C T downstream_gene_variant BTCA-JP 2 106498424 106498424 single base substitution C T intron_variant BTCA-JP 2 106498424 106498424 single base substitution C T synonymous_variant N289N 867C>T CESC-US 2 106471654 106471654 single base substitution C A synonymous_variant A45A 135C>A CESC-US 2 106471800 106471800 single base substitution C T intron_variant CLLE-ES 2 106375514 106375514 single base substitution T G intron_variant CLLE-ES 2 106423876 106423876 single base substitution A C intron_variant CLLE-ES 2 106433249 106433249 single base substitution G A intron_variant CLLE-ES 2 106451615 106451615 single base substitution A G intron_variant CLLE-ES 2 106468748 106468748 single base substitution C T intron_variant CLLE-ES 2 106477947 106477947 single base substitution T G intron_variant COAD-US 2 106497917 106497917 single base substitution C T downstream_gene_variant COAD-US 2 106497917 106497917 single base substitution C T intron_variant COAD-US 2 106497917 106497917 single base substitution C T synonymous_variant F120F 360C>T COAD-US 2 106498382 106498382 single base substitution G A downstream_gene_variant COAD-US 2 106498382 106498382 single base substitution G A intron_variant COAD-US 2 106498382 106498382 single base substitution G A synonymous_variant S275S 825G>A COAD-US 2 106498393 106498393 single base substitution G A downstream_gene_variant COAD-US 2 106498393 106498393 single base substitution G A intron_variant COAD-US 2 106498393 106498393 single base substitution G A missense_variant R279H 836G>A COAD-US 2 106509531 106509531 single base substitution C T 3_prime_UTR_variant COAD-US 2 106509531 106509531 single base substitution C T missense_variant R348C 1042C>T COCA-CN 2 106498145 106498145 single base substitution G A downstream_gene_variant COCA-CN 2 106498145 106498145 single base substitution G A intron_variant COCA-CN 2 106498145 106498145 single base substitution G A synonymous_variant V196V 588G>A COCA-CN 2 106498282 106498282 single base substitution G A downstream_gene_variant COCA-CN 2 106498282 106498282 single base substitution G A intron_variant COCA-CN 2 106498282 106498282 single base substitution G A missense_variant G242D 725G>A COCA-CN 2 106509453 106509453 single base substitution G A missense_variant R81H 242G>A COCA-CN 2 106509453 106509453 single base substitution G A missense_variant V322M 964G>A EOPC-DE 2 106428622 106428622 single base substitution G C intron_variant EOPC-DE 2 106428622 106428622 single base substitution G C upstream_gene_variant EOPC-DE 2 106439542 106439542 single base substitution G T intron_variant ESAD-UK 2 106356363 106356363 single base substitution C T upstream_gene_variant ESAD-UK 2 106356714 106356714 single base substitution G T upstream_gene_variant ESAD-UK 2 106360464 106360464 single base substitution C T upstream_gene_variant ESAD-UK 2 106362467 106362467 single base substitution G A intron_variant ESAD-UK 2 106363061 106363061 single base substitution A T intron_variant ESAD-UK 2 106363364 106363364 single base substitution C T intron_variant ESAD-UK 2 106364234 106364234 single base substitution C T intron_variant ESAD-UK 2 106365873 106365873 single base substitution C T intron_variant ESAD-UK 2 106374156 106374156 single base substitution T G intron_variant ESAD-UK 2 106376567 106376571 deletion of <=200bp TCAGC - intron_variant ESAD-UK 2 106379075 106379075 single base substitution C T intron_variant ESAD-UK 2 106379347 106379347 single base substitution A C intron_variant ESAD-UK 2 106379357 106379357 deletion of <=200bp A - intron_variant ESAD-UK 2 106380304 106380304 single base substitution T G intron_variant ESAD-UK 2 106383814 106383814 single base substitution C T intron_variant ESAD-UK 2 106385125 106385125 insertion of <=200bp - T intron_variant ESAD-UK 2 106385415 106385415 single base substitution C T intron_variant ESAD-UK 2 106388085 106388085 single base substitution T C intron_variant ESAD-UK 2 106388223 106388223 single base substitution C T intron_variant ESAD-UK 2 106393709 106393709 insertion of <=200bp - G intron_variant ESAD-UK 2 106396777 106396778 deletion of <=200bp AT - intron_variant ESAD-UK 2 106401302 106401302 single base substitution G A intron_variant ESAD-UK 2 106401738 106401738 single base substitution G T intron_variant ESAD-UK 2 106403210 106403210 single base substitution A G intron_variant ESAD-UK 2 106403605 106403605 single base substitution T A intron_variant ESAD-UK 2 106407007 106407007 single base substitution C G intron_variant ESAD-UK 2 106407923 106407923 single base substitution G A intron_variant ESAD-UK 2 106407966 106407966 single base substitution C G intron_variant ESAD-UK 2 106410724 106410724 single base substitution G A intron_variant ESAD-UK 2 106410844 106410844 single base substitution A G intron_variant ESAD-UK 2 106410876 106410876 single base substitution T G intron_variant ESAD-UK 2 106416764 106416764 single base substitution C T intron_variant ESAD-UK 2 106417418 106417418 single base substitution G A intron_variant ESAD-UK 2 106419746 106419746 single base substitution T G intron_variant ESAD-UK 2 106420320 106420320 single base substitution T G intron_variant ESAD-UK 2 106421937 106421937 single base substitution A G intron_variant ESAD-UK 2 106423140 106423140 single base substitution T C intron_variant ESAD-UK 2 106428128 106428128 single base substitution C T intron_variant ESAD-UK 2 106428128 106428128 single base substitution C T upstream_gene_variant ESAD-UK 2 106428852 106428852 single base substitution A C intron_variant ESAD-UK 2 106428852 106428852 single base substitution A C upstream_gene_variant ESAD-UK 2 106429465 106429465 single base substitution C A intron_variant ESAD-UK 2 106429465 106429465 single base substitution C A upstream_gene_variant ESAD-UK 2 106429699 106429699 single base substitution T A intron_variant ESAD-UK 2 106429699 106429699 single base substitution T A upstream_gene_variant ESAD-UK 2 106436293 106436293 single base substitution G T intron_variant ESAD-UK 2 106436587 106436587 single base substitution C T intron_variant ESAD-UK 2 106440590 106440590 single base substitution C A intron_variant ESAD-UK 2 106441821 106441821 single base substitution G A intron_variant ESAD-UK 2 106442867 106442867 single base substitution C T intron_variant ESAD-UK 2 106443937 106443937 single base substitution G A intron_variant ESAD-UK 2 106444628 106444628 single base substitution C T intron_variant ESAD-UK 2 106448754 106448754 single base substitution C T intron_variant ESAD-UK 2 106449690 106449690 single base substitution C T intron_variant ESAD-UK 2 106450327 106450327 single base substitution C T intron_variant ESAD-UK 2 106452183 106452183 single base substitution T C intron_variant ESAD-UK 2 106452939 106452939 single base substitution G T intron_variant ESAD-UK 2 106454561 106454561 insertion of <=200bp - C intron_variant ESAD-UK 2 106457645 106457645 single base substitution C G intron_variant ESAD-UK 2 106457762 106457762 insertion of <=200bp - T intron_variant ESAD-UK 2 106459273 106459273 single base substitution G T intron_variant ESAD-UK 2 106459352 106459352 deletion of <=200bp G - intron_variant ESAD-UK 2 106460604 106460604 single base substitution C T intron_variant ESAD-UK 2 106461036 106461036 single base substitution A C intron_variant ESAD-UK 2 106461738 106461738 single base substitution A G intron_variant ESAD-UK 2 106462239 106462239 insertion of <=200bp - A intron_variant ESAD-UK 2 106463379 106463379 single base substitution T C intron_variant ESAD-UK 2 106463379 106463379 single base substitution T C upstream_gene_variant ESAD-UK 2 106464862 106464862 single base substitution C T intron_variant ESAD-UK 2 106464862 106464862 single base substitution C T upstream_gene_variant ESAD-UK 2 106467972 106467972 single base substitution C G intron_variant ESAD-UK 2 106467972 106467972 single base substitution C G upstream_gene_variant ESAD-UK 2 106467991 106467991 single base substitution G C intron_variant ESAD-UK 2 106467991 106467991 single base substitution G C upstream_gene_variant ESAD-UK 2 106468253 106468253 single base substitution G C 5_prime_UTR_variant ESAD-UK 2 106468253 106468253 single base substitution G C intron_variant ESAD-UK 2 106468989 106468989 single base substitution C A intron_variant ESAD-UK 2 106474503 106474503 single base substitution G T intron_variant ESAD-UK 2 106474505 106474505 single base substitution T G intron_variant ESAD-UK 2 106474514 106474514 single base substitution G T intron_variant ESAD-UK 2 106474703 106474703 single base substitution G A intron_variant ESAD-UK 2 106477305 106477305 single base substitution G T intron_variant ESAD-UK 2 106479335 106479335 single base substitution G T intron_variant ESAD-UK 2 106479502 106479502 single base substitution G C intron_variant ESAD-UK 2 106484852 106484852 single base substitution G C intron_variant ESAD-UK 2 106487011 106487011 single base substitution A T intron_variant ESAD-UK 2 106488525 106488525 single base substitution G T intron_variant ESAD-UK 2 106489954 106489954 single base substitution C T intron_variant ESAD-UK 2 106491168 106491168 single base substitution G A intron_variant ESAD-UK 2 106491805 106491805 single base substitution G A intron_variant ESAD-UK 2 106492169 106492169 deletion of <=200bp G - intron_variant ESAD-UK 2 106492805 106492805 single base substitution T C intron_variant ESAD-UK 2 106497127 106497127 single base substitution T G intron_variant ESAD-UK 2 106499536 106499536 single base substitution G A downstream_gene_variant ESAD-UK 2 106499536 106499536 single base substitution G A intron_variant ESAD-UK 2 106500885 106500885 single base substitution G A downstream_gene_variant ESAD-UK 2 106500885 106500885 single base substitution G A intron_variant ESAD-UK 2 106502625 106502625 single base substitution G T downstream_gene_variant ESAD-UK 2 106502625 106502625 single base substitution G T intron_variant ESAD-UK 2 106507710 106507710 deletion of <=200bp T - intron_variant ESAD-UK 2 106509966 106509966 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 106509966 106509966 single base substitution G A downstream_gene_variant ESAD-UK 2 106510563 106510563 single base substitution A T 3_prime_UTR_variant ESAD-UK 2 106510563 106510563 single base substitution A T downstream_gene_variant ESAD-UK 2 106511185 106511185 single base substitution T C downstream_gene_variant ESAD-UK 2 106511389 106511389 single base substitution C T downstream_gene_variant ESCA-CN 2 106498247 106498247 single base substitution C T downstream_gene_variant ESCA-CN 2 106498247 106498247 single base substitution C T intron_variant ESCA-CN 2 106498247 106498247 single base substitution C T synonymous_variant N230N 690C>T KIRP-US 2 106498221 106498221 single base substitution A G downstream_gene_variant KIRP-US 2 106498221 106498221 single base substitution A G intron_variant KIRP-US 2 106498221 106498221 single base substitution A G missense_variant M222V 664A>G LAML-KR 2 106382274 106382274 single base substitution C G intron_variant LAML-KR 2 106509345 106509345 single base substitution T G intron_variant LICA-CN 2 106471562 106471562 single base substitution G T missense_variant A15S 43G>T LICA-CN 2 106498285 106498285 single base substitution A T downstream_gene_variant LICA-CN 2 106498285 106498285 single base substitution A T intron_variant LICA-CN 2 106498285 106498285 single base substitution A T missense_variant Q243L 728A>T LICA-FR 2 106377023 106377023 single base substitution C A intron_variant LICA-FR 2 106378295 106378295 single base substitution C A intron_variant LICA-FR 2 106421371 106421371 single base substitution C T intron_variant LICA-FR 2 106433633 106433633 insertion of <=200bp - AA intron_variant LICA-FR 2 106433633 106433633 insertion of <=200bp - A intron_variant LICA-FR 2 106439589 106439594 deletion of <=200bp TGTGTG - intron_variant LICA-FR 2 106447127 106447127 insertion of <=200bp - GTGTGTGT intron_variant LICA-FR 2 106449457 106449458 deletion of <=200bp TT - intron_variant LICA-FR 2 106454408 106454408 single base substitution T G intron_variant LICA-FR 2 106454789 106454789 single base substitution A G intron_variant LICA-FR 2 106458313 106458313 single base substitution A T intron_variant LICA-FR 2 106458843 106458843 single base substitution G T intron_variant LICA-FR 2 106464795 106464795 single base substitution C G intron_variant LICA-FR 2 106464795 106464795 single base substitution C G upstream_gene_variant LICA-FR 2 106467750 106467750 single base substitution C T intron_variant LICA-FR 2 106467750 106467750 single base substitution C T upstream_gene_variant LICA-FR 2 106479868 106479868 single base substitution G T intron_variant LICA-FR 2 106488099 106488099 single base substitution C T intron_variant LICA-FR 2 106493296 106493296 single base substitution A G intron_variant LICA-FR 2 106496409 106496409 single base substitution T A intron_variant LICA-FR 2 106498418 106498418 single base substitution C A downstream_gene_variant LICA-FR 2 106498418 106498418 single base substitution C A intron_variant LICA-FR 2 106498418 106498418 single base substitution C A stop_gained Y287* 861C>A LICA-FR 2 106515515 106515515 single base substitution A G downstream_gene_variant LINC-JP 2 106362077 106362077 deletion of <=200bp G - intron_variant LINC-JP 2 106362077 106362077 deletion of <=200bp G - upstream_gene_variant LINC-JP 2 106364329 106364329 single base substitution C A intron_variant LINC-JP 2 106382141 106382141 single base substitution A T intron_variant LINC-JP 2 106391598 106391598 single base substitution T C intron_variant LINC-JP 2 106413086 106413086 single base substitution G T intron_variant LINC-JP 2 106420951 106420951 single base substitution G A intron_variant LINC-JP 2 106447173 106447173 single base substitution T G intron_variant LINC-JP 2 106453104 106453104 single base substitution T C intron_variant LINC-JP 2 106464418 106464418 single base substitution A G intron_variant LINC-JP 2 106464418 106464418 single base substitution A G upstream_gene_variant LINC-JP 2 106471691 106471691 single base substitution C T missense_variant R58W 172C>T LINC-JP 2 106474719 106474719 single base substitution T C intron_variant LINC-JP 2 106485680 106485680 single base substitution G A intron_variant LINC-JP 2 106497876 106497876 single base substitution G T intron_variant LINC-JP 2 106497876 106497876 single base substitution G T missense_variant D107Y 319G>T LINC-JP 2 106498082 106498082 single base substitution G A downstream_gene_variant LINC-JP 2 106498082 106498082 single base substitution G A intron_variant LINC-JP 2 106498082 106498082 single base substitution G A synonymous_variant E175E 525G>A LINC-JP 2 106498322 106498322 single base substitution C T downstream_gene_variant LINC-JP 2 106498322 106498322 single base substitution C T intron_variant LINC-JP 2 106498322 106498322 single base substitution C T synonymous_variant L255L 765C>T LINC-JP 2 106510696 106510696 single base substitution T C 3_prime_UTR_variant LINC-JP 2 106510696 106510696 single base substitution T C downstream_gene_variant LIRI-JP 2 106358186 106358186 single base substitution T A upstream_gene_variant LIRI-JP 2 106358747 106358747 single base substitution T C upstream_gene_variant LIRI-JP 2 106359584 106359584 single base substitution G T upstream_gene_variant LIRI-JP 2 106360525 106360525 single base substitution A T upstream_gene_variant LIRI-JP 2 106362011 106362011 single base substitution C T intron_variant LIRI-JP 2 106362011 106362011 single base substitution C T upstream_gene_variant LIRI-JP 2 106367986 106367986 single base substitution A C intron_variant LIRI-JP 2 106368200 106368200 single base substitution G A intron_variant LIRI-JP 2 106369104 106369104 single base substitution A G intron_variant LIRI-JP 2 106369744 106369744 single base substitution C A intron_variant LIRI-JP 2 106371470 106371470 single base substitution G A intron_variant LIRI-JP 2 106373719 106373719 single base substitution G A intron_variant LIRI-JP 2 106373834 106373834 single base substitution G A intron_variant LIRI-JP 2 106373901 106373901 single base substitution G A intron_variant LIRI-JP 2 106374887 106374887 single base substitution A T intron_variant LIRI-JP 2 106375027 106375027 single base substitution C T intron_variant LIRI-JP 2 106378110 106378110 single base substitution G A intron_variant LIRI-JP 2 106378605 106378605 single base substitution T C intron_variant LIRI-JP 2 106378847 106378847 single base substitution C G intron_variant LIRI-JP 2 106380511 106380511 single base substitution C T intron_variant LIRI-JP 2 106384737 106384737 single base substitution G A intron_variant LIRI-JP 2 106386703 106386703 single base substitution T C intron_variant LIRI-JP 2 106387618 106387618 single base substitution A T intron_variant LIRI-JP 2 106390244 106390244 single base substitution C T intron_variant LIRI-JP 2 106390924 106390924 single base substitution G T intron_variant LIRI-JP 2 106391500 106391500 single base substitution A T intron_variant LIRI-JP 2 106391732 106391732 single base substitution T C intron_variant LIRI-JP 2 106392070 106392070 single base substitution A G intron_variant LIRI-JP 2 106393011 106393011 single base substitution G T intron_variant LIRI-JP 2 106393534 106393534 single base substitution C T intron_variant LIRI-JP 2 106393705 106393705 single base substitution T G intron_variant LIRI-JP 2 106395313 106395313 single base substitution A G intron_variant LIRI-JP 2 106396085 106396085 single base substitution A T intron_variant LIRI-JP 2 106399014 106399014 single base substitution T C intron_variant LIRI-JP 2 106399629 106399629 single base substitution T C intron_variant LIRI-JP 2 106400517 106400517 single base substitution G A intron_variant LIRI-JP 2 106401150 106401150 single base substitution A G intron_variant LIRI-JP 2 106402357 106402357 single base substitution C G intron_variant LIRI-JP 2 106403256 106403256 single base substitution T G intron_variant LIRI-JP 2 106403814 106403814 single base substitution G A intron_variant LIRI-JP 2 106405053 106405053 single base substitution A T intron_variant LIRI-JP 2 106406600 106406600 single base substitution A G intron_variant LIRI-JP 2 106407121 106407121 single base substitution G T intron_variant LIRI-JP 2 106407285 106407285 single base substitution C T intron_variant LIRI-JP 2 106408252 106408253 deletion of <=200bp TG - intron_variant LIRI-JP 2 106410726 106410726 single base substitution C T intron_variant LIRI-JP 2 106410974 106410974 single base substitution A G intron_variant LIRI-JP 2 106411010 106411010 single base substitution G A intron_variant LIRI-JP 2 106414038 106414038 single base substitution A G intron_variant LIRI-JP 2 106414696 106414696 single base substitution A C intron_variant LIRI-JP 2 106415226 106415226 single base substitution G A intron_variant LIRI-JP 2 106416442 106416442 single base substitution G A intron_variant LIRI-JP 2 106416483 106416483 single base substitution A G intron_variant LIRI-JP 2 106417392 106417392 single base substitution T A intron_variant LIRI-JP 2 106417568 106417568 single base substitution T C intron_variant LIRI-JP 2 106419839 106419839 single base substitution G A intron_variant LIRI-JP 2 106419965 106419965 single base substitution C G intron_variant LIRI-JP 2 106420499 106420499 single base substitution G A intron_variant LIRI-JP 2 106421555 106421555 single base substitution T C intron_variant LIRI-JP 2 106421666 106421666 single base substitution G C intron_variant LIRI-JP 2 106421928 106421928 single base substitution A G intron_variant LIRI-JP 2 106422096 106422096 single base substitution C T intron_variant LIRI-JP 2 106426622 106426622 single base substitution T G intron_variant LIRI-JP 2 106427176 106427176 single base substitution T C intron_variant LIRI-JP 2 106428781 106428781 single base substitution A G intron_variant LIRI-JP 2 106428781 106428781 single base substitution A G upstream_gene_variant LIRI-JP 2 106432354 106432354 single base substitution G A intron_variant LIRI-JP 2 106432354 106432354 single base substitution G A upstream_gene_variant LIRI-JP 2 106433699 106433699 single base substitution C T intron_variant LIRI-JP 2 106435969 106435969 single base substitution T G intron_variant LIRI-JP 2 106436728 106436728 single base substitution A G intron_variant LIRI-JP 2 106437316 106437316 single base substitution T G intron_variant LIRI-JP 2 106437829 106437829 single base substitution G T intron_variant LIRI-JP 2 106438845 106438845 single base substitution C T intron_variant LIRI-JP 2 106439209 106439209 single base substitution A G intron_variant LIRI-JP 2 106440343 106440346 deletion of <=200bp ATCA - intron_variant LIRI-JP 2 106440851 106440851 single base substitution T C intron_variant LIRI-JP 2 106442393 106442393 single base substitution T C intron_variant LIRI-JP 2 106442435 106442435 single base substitution T C intron_variant LIRI-JP 2 106443381 106443381 single base substitution A T intron_variant LIRI-JP 2 106449801 106449801 single base substitution C A intron_variant LIRI-JP 2 106451081 106451081 single base substitution G T intron_variant LIRI-JP 2 106452579 106452579 single base substitution C T intron_variant LIRI-JP 2 106453172 106453172 single base substitution C G intron_variant LIRI-JP 2 106453332 106453332 single base substitution G A intron_variant LIRI-JP 2 106454438 106454438 single base substitution T C intron_variant LIRI-JP 2 106454693 106454693 single base substitution C T intron_variant LIRI-JP 2 106459941 106459941 single base substitution C A intron_variant LIRI-JP 2 106461494 106461494 single base substitution G C intron_variant LIRI-JP 2 106465912 106465912 single base substitution T A intron_variant LIRI-JP 2 106465912 106465912 single base substitution T A upstream_gene_variant LIRI-JP 2 106465982 106465982 single base substitution T G intron_variant LIRI-JP 2 106465982 106465982 single base substitution T G upstream_gene_variant LIRI-JP 2 106466573 106466573 single base substitution T G intron_variant LIRI-JP 2 106466573 106466573 single base substitution T G upstream_gene_variant LIRI-JP 2 106467586 106467586 single base substitution C A intron_variant LIRI-JP 2 106467586 106467586 single base substitution C A upstream_gene_variant LIRI-JP 2 106468461 106468461 single base substitution C T intron_variant LIRI-JP 2 106469880 106469880 single base substitution T C intron_variant LIRI-JP 2 106472540 106472540 single base substitution T C intron_variant LIRI-JP 2 106473262 106473262 single base substitution C T intron_variant LIRI-JP 2 106473955 106473955 single base substitution T C intron_variant LIRI-JP 2 106474583 106474583 single base substitution T C intron_variant LIRI-JP 2 106474736 106474736 single base substitution A G intron_variant LIRI-JP 2 106477642 106477642 single base substitution T G intron_variant LIRI-JP 2 106478549 106478549 single base substitution T C intron_variant LIRI-JP 2 106479220 106479220 single base substitution T C intron_variant LIRI-JP 2 106479481 106479481 single base substitution G A intron_variant LIRI-JP 2 106481679 106481679 single base substitution A G intron_variant LIRI-JP 2 106483088 106483088 single base substitution T A intron_variant LIRI-JP 2 106484656 106484656 single base substitution G A intron_variant LIRI-JP 2 106484706 106484706 single base substitution C A intron_variant LIRI-JP 2 106485277 106485277 single base substitution C T intron_variant LIRI-JP 2 106485518 106485518 single base substitution C T intron_variant LIRI-JP 2 106488308 106488308 single base substitution C T intron_variant LIRI-JP 2 106488796 106488796 single base substitution T G intron_variant LIRI-JP 2 106488797 106488797 single base substitution C A intron_variant LIRI-JP 2 106489390 106489390 single base substitution T C intron_variant LIRI-JP 2 106491423 106491423 single base substitution C G intron_variant LIRI-JP 2 106497155 106497155 single base substitution G C intron_variant LIRI-JP 2 106498425 106498425 single base substitution G A downstream_gene_variant LIRI-JP 2 106498425 106498425 single base substitution G A intron_variant LIRI-JP 2 106498425 106498425 single base substitution G A missense_variant V290M 868G>A LIRI-JP 2 106499246 106499246 single base substitution G C downstream_gene_variant LIRI-JP 2 106499246 106499246 single base substitution G C intron_variant LIRI-JP 2 106500725 106500726 deletion of <=200bp TG - downstream_gene_variant LIRI-JP 2 106500725 106500726 deletion of <=200bp TG - intron_variant LIRI-JP 2 106501540 106501540 single base substitution G A downstream_gene_variant LIRI-JP 2 106501540 106501540 single base substitution G A intron_variant LIRI-JP 2 106504543 106504543 single base substitution A G intron_variant LIRI-JP 2 106506758 106506758 single base substitution C T intron_variant LIRI-JP 2 106509158 106509158 single base substitution C T intron_variant LIRI-JP 2 106511673 106511673 single base substitution A G downstream_gene_variant LIRI-JP 2 106513314 106513314 single base substitution G A downstream_gene_variant LUSC-KR 2 106360248 106360248 single base substitution A T upstream_gene_variant LUSC-KR 2 106366243 106366243 single base substitution G C intron_variant LUSC-KR 2 106368138 106368138 single base substitution C A intron_variant LUSC-KR 2 106372433 106372433 single base substitution G C intron_variant LUSC-KR 2 106372656 106372656 single base substitution A G intron_variant LUSC-KR 2 106377063 106377063 single base substitution C T intron_variant LUSC-KR 2 106381812 106381812 single base substitution A G intron_variant LUSC-KR 2 106382274 106382274 single base substitution C G intron_variant LUSC-KR 2 106383836 106383836 single base substitution G C intron_variant LUSC-KR 2 106385732 106385732 single base substitution A C intron_variant LUSC-KR 2 106386901 106386901 single base substitution C T intron_variant LUSC-KR 2 106387103 106387103 single base substitution C G intron_variant LUSC-KR 2 106388682 106388682 single base substitution G T intron_variant LUSC-KR 2 106389385 106389385 single base substitution G T intron_variant LUSC-KR 2 106391109 106391109 single base substitution G T intron_variant LUSC-KR 2 106393258 106393258 single base substitution A C intron_variant LUSC-KR 2 106393264 106393264 single base substitution C T intron_variant LUSC-KR 2 106396604 106396604 single base substitution G T intron_variant LUSC-KR 2 106397734 106397734 single base substitution G C intron_variant LUSC-KR 2 106397892 106397892 single base substitution C T intron_variant LUSC-KR 2 106402730 106402730 single base substitution G A intron_variant LUSC-KR 2 106404187 106404187 single base substitution A G intron_variant LUSC-KR 2 106404575 106404575 single base substitution C T intron_variant LUSC-KR 2 106405441 106405441 single base substitution G C intron_variant LUSC-KR 2 106405684 106405684 single base substitution G T intron_variant LUSC-KR 2 106406524 106406524 single base substitution C G intron_variant LUSC-KR 2 106407870 106407870 single base substitution G T intron_variant LUSC-KR 2 106407871 106407871 single base substitution G T intron_variant LUSC-KR 2 106408378 106408378 single base substitution A G intron_variant LUSC-KR 2 106410562 106410562 single base substitution G T intron_variant LUSC-KR 2 106410862 106410862 single base substitution G C intron_variant LUSC-KR 2 106413831 106413831 single base substitution G C intron_variant LUSC-KR 2 106415083 106415083 single base substitution A T intron_variant LUSC-KR 2 106416986 106416986 single base substitution G C intron_variant LUSC-KR 2 106418049 106418049 single base substitution G T intron_variant LUSC-KR 2 106418570 106418570 single base substitution G T intron_variant LUSC-KR 2 106435269 106435269 single base substitution A T intron_variant LUSC-KR 2 106439755 106439755 single base substitution G A intron_variant LUSC-KR 2 106443529 106443529 single base substitution C T intron_variant LUSC-KR 2 106447453 106447453 single base substitution A G intron_variant LUSC-KR 2 106455946 106455946 single base substitution G A intron_variant LUSC-KR 2 106457348 106457348 single base substitution C G intron_variant LUSC-KR 2 106457517 106457517 single base substitution C A intron_variant LUSC-KR 2 106464273 106464273 single base substitution G C intron_variant LUSC-KR 2 106464273 106464273 single base substitution G C upstream_gene_variant LUSC-KR 2 106467606 106467606 single base substitution G C intron_variant LUSC-KR 2 106467606 106467606 single base substitution G C upstream_gene_variant LUSC-KR 2 106477168 106477168 single base substitution G A intron_variant LUSC-KR 2 106482640 106482640 single base substitution G C intron_variant LUSC-KR 2 106485277 106485277 single base substitution C T intron_variant LUSC-KR 2 106485321 106485321 single base substitution G T intron_variant LUSC-KR 2 106487542 106487542 single base substitution G T intron_variant LUSC-KR 2 106487568 106487568 single base substitution G T intron_variant LUSC-KR 2 106491364 106491364 single base substitution T G intron_variant LUSC-KR 2 106493354 106493354 single base substitution C T intron_variant LUSC-KR 2 106494480 106494480 single base substitution C T intron_variant LUSC-KR 2 106494848 106494848 single base substitution C A intron_variant LUSC-KR 2 106495767 106495767 single base substitution T G intron_variant LUSC-KR 2 106502097 106502097 single base substitution A T downstream_gene_variant LUSC-KR 2 106502097 106502097 single base substitution A T intron_variant LUSC-KR 2 106510138 106510138 single base substitution G T 3_prime_UTR_variant LUSC-KR 2 106510138 106510138 single base substitution G T downstream_gene_variant LUSC-KR 2 106510285 106510285 single base substitution A C 3_prime_UTR_variant LUSC-KR 2 106510285 106510285 single base substitution A C downstream_gene_variant LUSC-KR 2 106510311 106510311 single base substitution G T 3_prime_UTR_variant LUSC-KR 2 106510311 106510311 single base substitution G T downstream_gene_variant LUSC-KR 2 106510477 106510477 single base substitution T A 3_prime_UTR_variant LUSC-KR 2 106510477 106510477 single base substitution T A downstream_gene_variant LUSC-US 2 106498213 106498213 single base substitution G T downstream_gene_variant LUSC-US 2 106498213 106498213 single base substitution G T intron_variant LUSC-US 2 106498213 106498213 single base substitution G T missense_variant G219V 656G>T LUSC-US 2 106498233 106498233 single base substitution G C downstream_gene_variant LUSC-US 2 106498233 106498233 single base substitution G C intron_variant LUSC-US 2 106498233 106498233 single base substitution G C missense_variant E226Q 676G>C MALY-DE 2 106362334 106362334 single base substitution A G 5_prime_UTR_variant MALY-DE 2 106362334 106362334 single base substitution A G intron_variant MALY-DE 2 106362943 106362943 single base substitution C G intron_variant MALY-DE 2 106370486 106370486 single base substitution C T intron_variant MALY-DE 2 106375833 106375833 single base substitution C A intron_variant MALY-DE 2 106380113 106380113 single base substitution T C intron_variant MALY-DE 2 106385004 106385004 single base substitution C T intron_variant MALY-DE 2 106397589 106397589 single base substitution T C intron_variant MALY-DE 2 106406268 106406268 single base substitution G C intron_variant MALY-DE 2 106407395 106407395 single base substitution C T intron_variant MALY-DE 2 106411608 106411608 single base substitution C T intron_variant MALY-DE 2 106413281 106413281 insertion of <=200bp - AT intron_variant MALY-DE 2 106428227 106428227 single base substitution T C intron_variant MALY-DE 2 106428227 106428227 single base substitution T C upstream_gene_variant MALY-DE 2 106430346 106430346 single base substitution C A intron_variant MALY-DE 2 106430346 106430346 single base substitution C A upstream_gene_variant MALY-DE 2 106436031 106436031 single base substitution A G intron_variant MALY-DE 2 106437205 106437205 single base substitution C T intron_variant MALY-DE 2 106442686 106442686 single base substitution G A intron_variant MALY-DE 2 106446963 106446963 single base substitution T G intron_variant MALY-DE 2 106449035 106449035 single base substitution G T intron_variant MALY-DE 2 106453795 106453795 single base substitution T G intron_variant MALY-DE 2 106479681 106479681 single base substitution A C intron_variant MALY-DE 2 106484302 106484302 single base substitution G A intron_variant MALY-DE 2 106487092 106487092 single base substitution T C intron_variant MALY-DE 2 106489749 106489749 single base substitution T C intron_variant MALY-DE 2 106494026 106494026 single base substitution A G intron_variant MALY-DE 2 106497393 106497406 deletion of <=200bp TTTTTTTTTTTTTT - intron_variant MALY-DE 2 106499021 106499021 single base substitution T G downstream_gene_variant MALY-DE 2 106499021 106499021 single base substitution T G intron_variant MALY-DE 2 106501811 106501811 single base substitution A T downstream_gene_variant MALY-DE 2 106501811 106501811 single base substitution A T intron_variant MALY-DE 2 106505946 106505946 single base substitution A C intron_variant MALY-DE 2 106505986 106505986 single base substitution T A intron_variant MALY-DE 2 106506035 106506035 single base substitution T C intron_variant MALY-DE 2 106509327 106509327 single base substitution C T intron_variant MALY-DE 2 106510184 106510184 single base substitution C G 3_prime_UTR_variant MALY-DE 2 106510184 106510184 single base substitution C G downstream_gene_variant MELA-AU 2 106356595 106356595 single base substitution G A upstream_gene_variant MELA-AU 2 106356859 106356859 single base substitution G A upstream_gene_variant MELA-AU 2 106357691 106357691 single base substitution G A upstream_gene_variant MELA-AU 2 106358451 106358451 single base substitution G A upstream_gene_variant MELA-AU 2 106358597 106358597 single base substitution G A upstream_gene_variant MELA-AU 2 106358640 106358640 single base substitution G A upstream_gene_variant MELA-AU 2 106358842 106358842 single base substitution G A upstream_gene_variant MELA-AU 2 106358889 106358889 single base substitution C T upstream_gene_variant MELA-AU 2 106358914 106358914 single base substitution C T upstream_gene_variant MELA-AU 2 106358927 106358927 single base substitution G A upstream_gene_variant MELA-AU 2 106359104 106359104 single base substitution T A upstream_gene_variant MELA-AU 2 106359158 106359158 single base substitution C T upstream_gene_variant MELA-AU 2 106359250 106359250 single base substitution G A upstream_gene_variant MELA-AU 2 106359304 106359304 single base substitution G A upstream_gene_variant MELA-AU 2 106359328 106359328 single base substitution G A upstream_gene_variant MELA-AU 2 106359419 106359419 single base substitution G A upstream_gene_variant MELA-AU 2 106359480 106359480 single base substitution A T upstream_gene_variant MELA-AU 2 106359538 106359538 single base substitution C T upstream_gene_variant MELA-AU 2 106359735 106359735 single base substitution G A upstream_gene_variant MELA-AU 2 106362260 106362260 single base substitution A T 5_prime_UTR_variant MELA-AU 2 106362260 106362260 single base substitution A T intron_variant MELA-AU 2 106362316 106362316 single base substitution C T 5_prime_UTR_variant MELA-AU 2 106362316 106362316 single base substitution C T intron_variant MELA-AU 2 106362547 106362547 single base substitution C T intron_variant MELA-AU 2 106362736 106362736 single base substitution C T intron_variant MELA-AU 2 106362809 106362809 single base substitution C T intron_variant MELA-AU 2 106362884 106362884 single base substitution C T intron_variant MELA-AU 2 106363751 106363751 single base substitution C T intron_variant MELA-AU 2 106364119 106364119 single base substitution C T intron_variant MELA-AU 2 106364433 106364433 single base substitution C T intron_variant MELA-AU 2 106364677 106364677 single base substitution C T intron_variant MELA-AU 2 106367348 106367348 single base substitution C T intron_variant MELA-AU 2 106367671 106367671 single base substitution C T intron_variant MELA-AU 2 106367672 106367672 single base substitution C T intron_variant MELA-AU 2 106367959 106367959 single base substitution C T intron_variant MELA-AU 2 106369158 106369158 single base substitution C T intron_variant MELA-AU 2 106369549 106369549 single base substitution C T intron_variant MELA-AU 2 106369914 106369914 single base substitution A C intron_variant MELA-AU 2 106371468 106371469 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 106372052 106372052 single base substitution C T intron_variant MELA-AU 2 106372427 106372427 single base substitution C T intron_variant MELA-AU 2 106372458 106372458 single base substitution T G intron_variant MELA-AU 2 106373052 106373052 single base substitution G A intron_variant MELA-AU 2 106373743 106373744 multiple base substitution (>=2bp and <=200bp) AC GT intron_variant MELA-AU 2 106374452 106374452 single base substitution C T intron_variant MELA-AU 2 106374902 106374902 single base substitution C T intron_variant MELA-AU 2 106374960 106374960 single base substitution G A intron_variant MELA-AU 2 106374964 106374964 single base substitution T C intron_variant MELA-AU 2 106375060 106375060 single base substitution T C intron_variant MELA-AU 2 106375833 106375833 single base substitution C T intron_variant MELA-AU 2 106375932 106375932 single base substitution A C intron_variant MELA-AU 2 106376296 106376296 single base substitution C T intron_variant MELA-AU 2 106376977 106376977 single base substitution C T intron_variant MELA-AU 2 106377053 106377054 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 106378611 106378611 single base substitution T A intron_variant MELA-AU 2 106378715 106378715 single base substitution C T intron_variant MELA-AU 2 106379027 106379027 single base substitution T A intron_variant MELA-AU 2 106379045 106379045 single base substitution C A intron_variant MELA-AU 2 106379742 106379742 single base substitution C T intron_variant MELA-AU 2 106380456 106380456 single base substitution C T intron_variant MELA-AU 2 106380766 106380766 single base substitution C T intron_variant MELA-AU 2 106380874 106380874 single base substitution C T intron_variant MELA-AU 2 106381294 106381294 single base substitution C T intron_variant MELA-AU 2 106381338 106381338 single base substitution C T intron_variant MELA-AU 2 106381948 106381948 single base substitution C T intron_variant MELA-AU 2 106382276 106382276 single base substitution G C intron_variant MELA-AU 2 106382756 106382756 single base substitution C T intron_variant MELA-AU 2 106383205 106383205 single base substitution C T intron_variant MELA-AU 2 106383328 106383328 single base substitution A T intron_variant MELA-AU 2 106383383 106383383 single base substitution G C intron_variant MELA-AU 2 106383755 106383755 single base substitution C T intron_variant MELA-AU 2 106383848 106383848 single base substitution T C intron_variant MELA-AU 2 106383957 106383957 single base substitution C T intron_variant MELA-AU 2 106384347 106384347 single base substitution C T intron_variant MELA-AU 2 106384837 106384837 single base substitution C T intron_variant MELA-AU 2 106384870 106384870 single base substitution C T intron_variant MELA-AU 2 106386292 106386292 single base substitution C T intron_variant MELA-AU 2 106386451 106386451 single base substitution C G intron_variant MELA-AU 2 106386522 106386522 single base substitution A T intron_variant MELA-AU 2 106387471 106387471 single base substitution C T intron_variant MELA-AU 2 106387606 106387606 single base substitution C T intron_variant MELA-AU 2 106387771 106387771 single base substitution C T intron_variant MELA-AU 2 106387913 106387913 single base substitution C T intron_variant MELA-AU 2 106388066 106388066 single base substitution C T intron_variant MELA-AU 2 106388067 106388067 single base substitution C T intron_variant MELA-AU 2 106388375 106388375 single base substitution C T intron_variant MELA-AU 2 106388410 106388410 single base substitution C T intron_variant MELA-AU 2 106388630 106388630 single base substitution C A intron_variant MELA-AU 2 106388664 106388664 single base substitution C T intron_variant MELA-AU 2 106389263 106389263 single base substitution C T intron_variant MELA-AU 2 106389493 106389493 single base substitution T G intron_variant MELA-AU 2 106389520 106389520 single base substitution T A intron_variant MELA-AU 2 106389656 106389656 single base substitution C T intron_variant MELA-AU 2 106390507 106390507 single base substitution C T intron_variant MELA-AU 2 106390944 106390944 single base substitution C T intron_variant MELA-AU 2 106391361 106391361 single base substitution C T intron_variant MELA-AU 2 106392166 106392166 single base substitution C T intron_variant MELA-AU 2 106392610 106392610 single base substitution C A intron_variant MELA-AU 2 106392672 106392672 single base substitution G A intron_variant MELA-AU 2 106393125 106393126 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 106393408 106393408 single base substitution G A intron_variant MELA-AU 2 106394146 106394146 single base substitution T C intron_variant MELA-AU 2 106395033 106395033 single base substitution T A intron_variant MELA-AU 2 106395283 106395283 single base substitution G A intron_variant MELA-AU 2 106396199 106396199 single base substitution C T intron_variant MELA-AU 2 106397079 106397079 single base substitution T C intron_variant MELA-AU 2 106397150 106397151 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 2 106397200 106397200 single base substitution C A intron_variant MELA-AU 2 106397739 106397739 single base substitution C T intron_variant MELA-AU 2 106397831 106397831 single base substitution C T intron_variant MELA-AU 2 106399149 106399150 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 106399459 106399459 single base substitution C T intron_variant MELA-AU 2 106400791 106400791 single base substitution C T intron_variant MELA-AU 2 106401524 106401524 single base substitution C G intron_variant MELA-AU 2 106401583 106401583 single base substitution C T intron_variant MELA-AU 2 106402047 106402047 single base substitution C T intron_variant MELA-AU 2 106402653 106402653 single base substitution C T intron_variant MELA-AU 2 106403144 106403144 single base substitution C T intron_variant MELA-AU 2 106403155 106403155 single base substitution C A intron_variant MELA-AU 2 106403538 106403538 single base substitution G A intron_variant MELA-AU 2 106404116 106404116 single base substitution C T intron_variant MELA-AU 2 106404537 106404537 single base substitution C T intron_variant MELA-AU 2 106405485 106405485 single base substitution C T intron_variant MELA-AU 2 106405848 106405848 single base substitution T C intron_variant MELA-AU 2 106405964 106405964 single base substitution G A intron_variant MELA-AU 2 106406303 106406303 single base substitution C T intron_variant MELA-AU 2 106406459 106406459 single base substitution T G intron_variant MELA-AU 2 106406461 106406461 single base substitution C T intron_variant MELA-AU 2 106407705 106407705 single base substitution C T intron_variant MELA-AU 2 106407882 106407882 single base substitution T A intron_variant MELA-AU 2 106407946 106407946 single base substitution T G intron_variant MELA-AU 2 106408243 106408243 single base substitution C T intron_variant MELA-AU 2 106408386 106408386 single base substitution T G intron_variant MELA-AU 2 106408518 106408518 single base substitution C T intron_variant MELA-AU 2 106408956 106408956 single base substitution C T intron_variant MELA-AU 2 106409175 106409175 single base substitution A C intron_variant MELA-AU 2 106409227 106409227 single base substitution C T intron_variant MELA-AU 2 106409325 106409325 single base substitution T G intron_variant MELA-AU 2 106409424 106409424 single base substitution C T intron_variant MELA-AU 2 106409452 106409452 single base substitution C T intron_variant MELA-AU 2 106410707 106410707 single base substitution C T intron_variant MELA-AU 2 106410795 106410795 single base substitution C T intron_variant MELA-AU 2 106410861 106410861 single base substitution C T intron_variant MELA-AU 2 106411148 106411148 single base substitution A C intron_variant MELA-AU 2 106411153 106411156 deletion of <=200bp TTTA - intron_variant MELA-AU 2 106411208 106411209 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 106412289 106412290 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 106412295 106412295 single base substitution T C intron_variant MELA-AU 2 106412327 106412328 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 106413154 106413154 single base substitution C T intron_variant MELA-AU 2 106413507 106413507 single base substitution T A intron_variant MELA-AU 2 106413578 106413578 single base substitution C A intron_variant MELA-AU 2 106414143 106414143 single base substitution C T intron_variant MELA-AU 2 106414385 106414385 single base substitution T A intron_variant MELA-AU 2 106414974 106414974 single base substitution G T intron_variant MELA-AU 2 106415387 106415387 single base substitution C A intron_variant MELA-AU 2 106415941 106415941 single base substitution T G intron_variant MELA-AU 2 106416724 106416724 single base substitution C T intron_variant MELA-AU 2 106417677 106417677 single base substitution C T intron_variant MELA-AU 2 106418609 106418610 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 106419060 106419060 single base substitution C T intron_variant MELA-AU 2 106420528 106420528 single base substitution T C intron_variant MELA-AU 2 106420663 106420663 single base substitution C T intron_variant MELA-AU 2 106421342 106421342 single base substitution G A intron_variant MELA-AU 2 106421729 106421729 single base substitution A G intron_variant MELA-AU 2 106421894 106421894 single base substitution C T intron_variant MELA-AU 2 106421967 106421967 single base substitution C T intron_variant MELA-AU 2 106422004 106422004 single base substitution C T intron_variant MELA-AU 2 106422279 106422279 single base substitution G A intron_variant MELA-AU 2 106422834 106422834 single base substitution A G intron_variant MELA-AU 2 106423080 106423080 single base substitution C T intron_variant MELA-AU 2 106423119 106423119 single base substitution T G intron_variant MELA-AU 2 106423236 106423236 single base substitution C T intron_variant MELA-AU 2 106423249 106423249 single base substitution C T intron_variant MELA-AU 2 106423526 106423526 deletion of <=200bp G - intron_variant MELA-AU 2 106423780 106423780 single base substitution G A intron_variant MELA-AU 2 106423896 106423896 single base substitution C T intron_variant MELA-AU 2 106423906 106423906 single base substitution G A intron_variant MELA-AU 2 106424445 106424445 single base substitution C T intron_variant MELA-AU 2 106424748 106424748 single base substitution C T intron_variant MELA-AU 2 106426036 106426036 single base substitution C T intron_variant MELA-AU 2 106426547 106426547 single base substitution G A intron_variant MELA-AU 2 106426662 106426662 single base substitution G A intron_variant MELA-AU 2 106427086 106427086 single base substitution G A intron_variant MELA-AU 2 106427554 106427555 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 106428496 106428496 single base substitution C A intron_variant MELA-AU 2 106428496 106428496 single base substitution C A upstream_gene_variant MELA-AU 2 106429003 106429003 single base substitution C A intron_variant MELA-AU 2 106429003 106429003 single base substitution C A upstream_gene_variant MELA-AU 2 106430841 106430841 single base substitution C T intron_variant MELA-AU 2 106430841 106430841 single base substitution C T upstream_gene_variant MELA-AU 2 106431520 106431520 single base substitution C T intron_variant MELA-AU 2 106431520 106431520 single base substitution C T upstream_gene_variant MELA-AU 2 106431784 106431785 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 106431784 106431785 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 106432131 106432131 single base substitution C T intron_variant MELA-AU 2 106432131 106432131 single base substitution C T upstream_gene_variant MELA-AU 2 106433849 106433849 single base substitution C T intron_variant MELA-AU 2 106434578 106434578 single base substitution C T intron_variant MELA-AU 2 106434697 106434697 single base substitution G A intron_variant MELA-AU 2 106435774 106435774 single base substitution C T intron_variant MELA-AU 2 106436282 106436282 single base substitution C T intron_variant MELA-AU 2 106436521 106436522 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 2 106436595 106436595 single base substitution G A intron_variant MELA-AU 2 106436985 106436985 single base substitution C T intron_variant MELA-AU 2 106437039 106437039 single base substitution C T intron_variant MELA-AU 2 106439192 106439192 single base substitution C T intron_variant MELA-AU 2 106439287 106439287 single base substitution C T intron_variant MELA-AU 2 106439345 106439345 single base substitution G A intron_variant MELA-AU 2 106439671 106439671 single base substitution C T intron_variant MELA-AU 2 106440122 106440122 single base substitution T C intron_variant MELA-AU 2 106440839 106440839 single base substitution C T intron_variant MELA-AU 2 106441187 106441187 single base substitution C T intron_variant MELA-AU 2 106441427 106441427 single base substitution C T intron_variant MELA-AU 2 106441661 106441661 single base substitution C T intron_variant MELA-AU 2 106441676 106441676 single base substitution C T intron_variant MELA-AU 2 106441820 106441820 single base substitution C T intron_variant MELA-AU 2 106441948 106441948 single base substitution C T intron_variant MELA-AU 2 106442879 106442879 single base substitution C T intron_variant MELA-AU 2 106442881 106442881 single base substitution C T intron_variant MELA-AU 2 106443118 106443118 single base substitution A G intron_variant MELA-AU 2 106443403 106443403 single base substitution C T intron_variant MELA-AU 2 106443927 106443927 single base substitution A C intron_variant MELA-AU 2 106443931 106443931 single base substitution C G intron_variant MELA-AU 2 106443995 106443995 single base substitution A G intron_variant MELA-AU 2 106444477 106444477 single base substitution G A intron_variant MELA-AU 2 106445428 106445428 single base substitution T C intron_variant MELA-AU 2 106445513 106445513 single base substitution G C intron_variant MELA-AU 2 106445555 106445555 single base substitution T C intron_variant MELA-AU 2 106445559 106445559 single base substitution T G intron_variant MELA-AU 2 106445595 106445595 single base substitution C T intron_variant MELA-AU 2 106446071 106446071 single base substitution C T intron_variant MELA-AU 2 106446165 106446165 single base substitution C T intron_variant MELA-AU 2 106446222 106446222 single base substitution C T intron_variant MELA-AU 2 106446267 106446267 single base substitution G A intron_variant MELA-AU 2 106447167 106447167 single base substitution G A intron_variant MELA-AU 2 106448098 106448098 single base substitution A G intron_variant MELA-AU 2 106448695 106448695 single base substitution T A intron_variant MELA-AU 2 106448741 106448741 single base substitution C T intron_variant MELA-AU 2 106449002 106449002 single base substitution C T intron_variant MELA-AU 2 106449779 106449779 single base substitution C T intron_variant MELA-AU 2 106450881 106450881 single base substitution C G intron_variant MELA-AU 2 106451442 106451442 single base substitution A C intron_variant MELA-AU 2 106451543 106451543 single base substitution C T intron_variant MELA-AU 2 106451594 106451594 single base substitution C T intron_variant MELA-AU 2 106451797 106451797 single base substitution G A intron_variant MELA-AU 2 106451810 106451810 single base substitution T C intron_variant MELA-AU 2 106451845 106451845 single base substitution A G intron_variant MELA-AU 2 106452453 106452453 single base substitution C T intron_variant MELA-AU 2 106452701 106452701 single base substitution C T intron_variant MELA-AU 2 106452860 106452860 single base substitution G A intron_variant MELA-AU 2 106453486 106453486 single base substitution C T intron_variant MELA-AU 2 106454165 106454165 single base substitution T G intron_variant MELA-AU 2 106454942 106454942 single base substitution C T intron_variant MELA-AU 2 106455950 106455950 single base substitution C T intron_variant MELA-AU 2 106456190 106456190 single base substitution G A intron_variant MELA-AU 2 106456498 106456498 single base substitution G A intron_variant MELA-AU 2 106456782 106456782 single base substitution G A intron_variant MELA-AU 2 106456912 106456912 single base substitution G A intron_variant MELA-AU 2 106457031 106457031 single base substitution G T intron_variant MELA-AU 2 106457411 106457411 single base substitution C T intron_variant MELA-AU 2 106457659 106457659 single base substitution C A intron_variant MELA-AU 2 106458146 106458146 single base substitution C T intron_variant MELA-AU 2 106458552 106458552 single base substitution T A intron_variant MELA-AU 2 106460332 106460332 single base substitution T A intron_variant MELA-AU 2 106460872 106460872 single base substitution C T intron_variant MELA-AU 2 106462119 106462119 single base substitution G A intron_variant MELA-AU 2 106462220 106462220 single base substitution G A intron_variant MELA-AU 2 106463766 106463766 single base substitution G A intron_variant MELA-AU 2 106463766 106463766 single base substitution G A upstream_gene_variant MELA-AU 2 106464494 106464494 single base substitution C T intron_variant MELA-AU 2 106464494 106464494 single base substitution C T upstream_gene_variant MELA-AU 2 106464582 106464582 single base substitution G A intron_variant MELA-AU 2 106464582 106464582 single base substitution G A upstream_gene_variant MELA-AU 2 106465489 106465489 single base substitution C T intron_variant MELA-AU 2 106465489 106465489 single base substitution C T upstream_gene_variant MELA-AU 2 106465618 106465618 single base substitution C T intron_variant MELA-AU 2 106465618 106465618 single base substitution C T upstream_gene_variant MELA-AU 2 106467477 106467477 single base substitution C T intron_variant MELA-AU 2 106467477 106467477 single base substitution C T upstream_gene_variant MELA-AU 2 106468496 106468496 single base substitution C T intron_variant MELA-AU 2 106468968 106468968 single base substitution C A intron_variant MELA-AU 2 106469497 106469497 single base substitution G A intron_variant MELA-AU 2 106469509 106469509 single base substitution T G intron_variant MELA-AU 2 106469974 106469974 single base substitution C T intron_variant MELA-AU 2 106471012 106471012 single base substitution C T intron_variant MELA-AU 2 106471034 106471034 single base substitution C T intron_variant MELA-AU 2 106471176 106471176 single base substitution C T intron_variant MELA-AU 2 106471925 106471925 single base substitution C T intron_variant MELA-AU 2 106473075 106473075 single base substitution G A intron_variant MELA-AU 2 106474802 106474802 single base substitution C T intron_variant MELA-AU 2 106477206 106477206 single base substitution G A intron_variant MELA-AU 2 106479053 106479053 single base substitution C T intron_variant MELA-AU 2 106479802 106479802 single base substitution G A intron_variant MELA-AU 2 106479979 106479979 single base substitution T C intron_variant MELA-AU 2 106480822 106480822 single base substitution C T intron_variant MELA-AU 2 106481626 106481627 multiple base substitution (>=2bp and <=200bp) AC GT intron_variant MELA-AU 2 106481668 106481668 single base substitution C T intron_variant MELA-AU 2 106481832 106481832 single base substitution G A intron_variant MELA-AU 2 106482446 106482446 single base substitution C T intron_variant MELA-AU 2 106482494 106482494 single base substitution C T intron_variant MELA-AU 2 106482913 106482913 single base substitution C T intron_variant MELA-AU 2 106482957 106482957 single base substitution G A intron_variant MELA-AU 2 106483225 106483225 single base substitution G A intron_variant MELA-AU 2 106483243 106483243 single base substitution C T intron_variant MELA-AU 2 106484091 106484091 single base substitution G A intron_variant MELA-AU 2 106484271 106484271 single base substitution C T intron_variant MELA-AU 2 106484580 106484580 single base substitution C T intron_variant MELA-AU 2 106484710 106484710 single base substitution C T intron_variant MELA-AU 2 106484788 106484788 single base substitution C T intron_variant MELA-AU 2 106484998 106484998 single base substitution A G intron_variant MELA-AU 2 106485027 106485027 single base substitution C T intron_variant MELA-AU 2 106485446 106485446 single base substitution C T intron_variant MELA-AU 2 106485512 106485512 single base substitution C T intron_variant MELA-AU 2 106486032 106486032 single base substitution C T intron_variant MELA-AU 2 106486281 106486281 single base substitution G A intron_variant MELA-AU 2 106486750 106486750 single base substitution C T intron_variant MELA-AU 2 106486892 106486892 single base substitution A G intron_variant MELA-AU 2 106487032 106487032 single base substitution T C intron_variant MELA-AU 2 106487241 106487241 single base substitution C T intron_variant MELA-AU 2 106487458 106487458 single base substitution T C intron_variant MELA-AU 2 106488729 106488729 single base substitution T A intron_variant MELA-AU 2 106488821 106488821 single base substitution C T intron_variant MELA-AU 2 106488908 106488908 single base substitution G A intron_variant MELA-AU 2 106489329 106489329 single base substitution C T intron_variant MELA-AU 2 106489682 106489682 single base substitution C T intron_variant MELA-AU 2 106489755 106489755 single base substitution C T intron_variant MELA-AU 2 106490571 106490572 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 106491054 106491054 single base substitution C T intron_variant MELA-AU 2 106491980 106491980 single base substitution C A intron_variant MELA-AU 2 106492866 106492866 single base substitution C T intron_variant MELA-AU 2 106493334 106493334 single base substitution C T intron_variant MELA-AU 2 106493594 106493594 single base substitution C T intron_variant MELA-AU 2 106493639 106493639 single base substitution C T intron_variant MELA-AU 2 106493986 106493986 single base substitution A C intron_variant MELA-AU 2 106494419 106494421 multiple base substitution (>=2bp and <=200bp) TCC CTT intron_variant MELA-AU 2 106494499 106494499 single base substitution T G intron_variant MELA-AU 2 106494765 106494765 single base substitution C T intron_variant MELA-AU 2 106495969 106495969 single base substitution C T intron_variant MELA-AU 2 106497035 106497036 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 106497232 106497232 single base substitution C T intron_variant MELA-AU 2 106497438 106497438 single base substitution C T intron_variant MELA-AU 2 106497488 106497488 single base substitution C T intron_variant MELA-AU 2 106497766 106497766 single base substitution C T intron_variant MELA-AU 2 106497949 106497949 single base substitution C T downstream_gene_variant MELA-AU 2 106497949 106497949 single base substitution C T intron_variant MELA-AU 2 106497949 106497949 single base substitution C T missense_variant S131F 392C>T MELA-AU 2 106498035 106498036 multiple base substitution (>=2bp and <=200bp) TT GG downstream_gene_variant MELA-AU 2 106498035 106498036 multiple base substitution (>=2bp and <=200bp) TT GG intron_variant MELA-AU 2 106498035 106498036 multiple base substitution (>=2bp and <=200bp) TT GG missense_variant F160G 478TT>GG MELA-AU 2 106498585 106498585 single base substitution C T downstream_gene_variant MELA-AU 2 106498585 106498585 single base substitution C T intron_variant MELA-AU 2 106499497 106499497 single base substitution G A downstream_gene_variant MELA-AU 2 106499497 106499497 single base substitution G A intron_variant MELA-AU 2 106499969 106499969 single base substitution T C downstream_gene_variant MELA-AU 2 106499969 106499969 single base substitution T C intron_variant MELA-AU 2 106500036 106500036 single base substitution C T downstream_gene_variant MELA-AU 2 106500036 106500036 single base substitution C T intron_variant MELA-AU 2 106500463 106500463 single base substitution G A downstream_gene_variant MELA-AU 2 106500463 106500463 single base substitution G A intron_variant MELA-AU 2 106501050 106501050 single base substitution C T downstream_gene_variant MELA-AU 2 106501050 106501050 single base substitution C T intron_variant MELA-AU 2 106501315 106501315 single base substitution G A downstream_gene_variant MELA-AU 2 106501315 106501315 single base substitution G A intron_variant MELA-AU 2 106501405 106501405 single base substitution C T downstream_gene_variant MELA-AU 2 106501405 106501405 single base substitution C T intron_variant MELA-AU 2 106502366 106502366 single base substitution T A downstream_gene_variant MELA-AU 2 106502366 106502366 single base substitution T A intron_variant MELA-AU 2 106502784 106502784 single base substitution A G downstream_gene_variant MELA-AU 2 106502784 106502784 single base substitution A G intron_variant MELA-AU 2 106502835 106502835 single base substitution A G downstream_gene_variant MELA-AU 2 106502835 106502835 single base substitution A G intron_variant MELA-AU 2 106504364 106504364 single base substitution C T intron_variant MELA-AU 2 106504851 106504851 single base substitution C T intron_variant MELA-AU 2 106505005 106505005 single base substitution T C intron_variant MELA-AU 2 106505046 106505046 single base substitution C T intron_variant MELA-AU 2 106505186 106505186 single base substitution C G intron_variant MELA-AU 2 106505872 106505872 single base substitution C G intron_variant MELA-AU 2 106506134 106506134 single base substitution G A intron_variant MELA-AU 2 106506357 106506357 single base substitution C T intron_variant MELA-AU 2 106506627 106506627 single base substitution G A intron_variant MELA-AU 2 106509194 106509194 single base substitution C T intron_variant MELA-AU 2 106509944 106509944 single base substitution G A 3_prime_UTR_variant MELA-AU 2 106509944 106509944 single base substitution G A downstream_gene_variant MELA-AU 2 106509993 106509993 single base substitution C T 3_prime_UTR_variant MELA-AU 2 106509993 106509993 single base substitution C T downstream_gene_variant MELA-AU 2 106510066 106510067 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 2 106510066 106510067 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 106510096 106510096 single base substitution C T 3_prime_UTR_variant MELA-AU 2 106510096 106510096 single base substitution C T downstream_gene_variant MELA-AU 2 106510548 106510549 deletion of <=200bp AC - 3_prime_UTR_variant MELA-AU 2 106510548 106510549 deletion of <=200bp AC - downstream_gene_variant MELA-AU 2 106510587 106510587 single base substitution C T 3_prime_UTR_variant MELA-AU 2 106510587 106510587 single base substitution C T downstream_gene_variant MELA-AU 2 106511124 106511124 single base substitution C T downstream_gene_variant MELA-AU 2 106511402 106511403 multiple base substitution (>=2bp and <=200bp) TC AT downstream_gene_variant MELA-AU 2 106511564 106511564 single base substitution C T downstream_gene_variant MELA-AU 2 106511880 106511880 single base substitution C T downstream_gene_variant MELA-AU 2 106512140 106512140 single base substitution C T downstream_gene_variant MELA-AU 2 106513036 106513036 single base substitution A T downstream_gene_variant MELA-AU 2 106513499 106513499 single base substitution C T downstream_gene_variant MELA-AU 2 106513565 106513565 single base substitution T A downstream_gene_variant MELA-AU 2 106513820 106513820 single base substitution C T downstream_gene_variant MELA-AU 2 106514236 106514236 single base substitution A T downstream_gene_variant MELA-AU 2 106514269 106514269 single base substitution C T downstream_gene_variant MELA-AU 2 106514430 106514430 single base substitution C T downstream_gene_variant MELA-AU 2 106514431 106514431 single base substitution C T downstream_gene_variant MELA-AU 2 106514619 106514619 single base substitution C T downstream_gene_variant MELA-AU 2 106514882 106514882 single base substitution T G downstream_gene_variant MELA-AU 2 106514904 106514904 single base substitution C T downstream_gene_variant MELA-AU 2 106515279 106515279 single base substitution T C downstream_gene_variant MELA-AU 2 106515714 106515714 single base substitution T C downstream_gene_variant ORCA-IN 2 106356675 106356675 deletion of <=200bp C - upstream_gene_variant ORCA-IN 2 106362488 106362488 single base substitution G A intron_variant ORCA-IN 2 106377360 106377360 single base substitution C T intron_variant ORCA-IN 2 106397216 106397216 single base substitution C T intron_variant ORCA-IN 2 106426868 106426868 single base substitution C T intron_variant ORCA-IN 2 106430883 106430883 single base substitution C G intron_variant ORCA-IN 2 106430883 106430883 single base substitution C G upstream_gene_variant ORCA-IN 2 106470671 106470671 single base substitution C T intron_variant ORCA-IN 2 106481727 106481727 single base substitution C G intron_variant ORCA-IN 2 106493691 106493691 single base substitution C G intron_variant ORCA-IN 2 106495274 106495274 insertion of <=200bp - G intron_variant OV-AU 2 106357979 106357979 single base substitution T C upstream_gene_variant OV-AU 2 106366587 106366587 single base substitution G A intron_variant OV-AU 2 106368132 106368132 single base substitution C G intron_variant OV-AU 2 106374791 106374791 single base substitution T A intron_variant OV-AU 2 106377224 106377224 single base substitution C G intron_variant OV-AU 2 106386732 106386732 single base substitution T C intron_variant OV-AU 2 106398171 106398171 single base substitution T C intron_variant OV-AU 2 106398692 106398692 single base substitution G C intron_variant OV-AU 2 106400669 106400669 single base substitution G T intron_variant OV-AU 2 106402197 106402197 single base substitution C A intron_variant OV-AU 2 106402521 106402521 single base substitution C T intron_variant OV-AU 2 106403051 106403051 single base substitution G T intron_variant OV-AU 2 106403229 106403229 single base substitution C G intron_variant OV-AU 2 106411449 106411449 single base substitution A T intron_variant OV-AU 2 106420271 106420271 single base substitution G T intron_variant OV-AU 2 106420788 106420788 single base substitution C G intron_variant OV-AU 2 106429766 106429766 single base substitution A T intron_variant OV-AU 2 106429766 106429766 single base substitution A T upstream_gene_variant OV-AU 2 106432278 106432278 single base substitution G T intron_variant OV-AU 2 106432278 106432278 single base substitution G T upstream_gene_variant OV-AU 2 106433036 106433036 single base substitution C T 5_prime_UTR_variant OV-AU 2 106439660 106439660 single base substitution G C intron_variant OV-AU 2 106450783 106450783 single base substitution G C intron_variant OV-AU 2 106450784 106450784 single base substitution G A intron_variant OV-AU 2 106467443 106467443 single base substitution C A intron_variant OV-AU 2 106467443 106467443 single base substitution C A upstream_gene_variant OV-AU 2 106469140 106469140 single base substitution G A intron_variant OV-AU 2 106471472 106471472 single base substitution C G intron_variant OV-AU 2 106483058 106483058 single base substitution A T intron_variant OV-AU 2 106499522 106499522 single base substitution G T downstream_gene_variant OV-AU 2 106499522 106499522 single base substitution G T intron_variant OV-AU 2 106500777 106500777 single base substitution C A downstream_gene_variant OV-AU 2 106500777 106500777 single base substitution C A intron_variant OV-AU 2 106511832 106511832 single base substitution T A downstream_gene_variant OV-AU 2 106515679 106515679 single base substitution A T downstream_gene_variant PACA-AU 2 106360760 106360760 insertion of <=200bp - AAA upstream_gene_variant PACA-AU 2 106365721 106365721 single base substitution T A intron_variant PACA-AU 2 106382240 106382241 deletion of <=200bp GG - intron_variant PACA-AU 2 106386214 106386214 insertion of <=200bp - ATGC intron_variant PACA-AU 2 106387140 106387140 single base substitution T C intron_variant PACA-AU 2 106391902 106391907 deletion of <=200bp TTCAGA - intron_variant PACA-AU 2 106393188 106393188 single base substitution C T intron_variant PACA-AU 2 106393426 106393426 single base substitution C T intron_variant PACA-AU 2 106393574 106393574 single base substitution C T intron_variant PACA-AU 2 106396976 106396976 single base substitution A T intron_variant PACA-AU 2 106397836 106397836 single base substitution C A intron_variant PACA-AU 2 106397945 106397945 single base substitution C T intron_variant PACA-AU 2 106413170 106413170 single base substitution C A intron_variant PACA-AU 2 106420560 106420560 single base substitution G A intron_variant PACA-AU 2 106440689 106440689 single base substitution C T intron_variant PACA-AU 2 106443537 106443537 single base substitution G A intron_variant PACA-AU 2 106448845 106448845 single base substitution C G intron_variant PACA-AU 2 106449295 106449295 single base substitution C A intron_variant PACA-AU 2 106449764 106449764 single base substitution G T intron_variant PACA-AU 2 106451441 106451441 single base substitution C G intron_variant PACA-AU 2 106453710 106453710 single base substitution G A intron_variant PACA-AU 2 106456128 106456128 single base substitution C G intron_variant PACA-AU 2 106458370 106458370 single base substitution G A intron_variant PACA-AU 2 106459504 106459504 single base substitution C T intron_variant PACA-AU 2 106461226 106461226 single base substitution G A intron_variant PACA-AU 2 106469820 106469820 single base substitution G A intron_variant PACA-AU 2 106471013 106471013 single base substitution A T intron_variant PACA-AU 2 106480418 106480418 single base substitution G T intron_variant PACA-AU 2 106480578 106480578 single base substitution G A intron_variant PACA-AU 2 106487821 106487821 single base substitution G A intron_variant PACA-AU 2 106488811 106488811 single base substitution G A intron_variant PACA-AU 2 106497051 106497051 single base substitution T C intron_variant PACA-AU 2 106497814 106497814 single base substitution C T intron_variant PACA-AU 2 106497814 106497814 single base substitution C T missense_variant A86V 257C>T PACA-AU 2 106499908 106499908 single base substitution T G downstream_gene_variant PACA-AU 2 106499908 106499908 single base substitution T G intron_variant PACA-AU 2 106505761 106505761 single base substitution C T intron_variant PACA-AU 2 106507265 106507265 single base substitution C A intron_variant PACA-CA 2 106358481 106358481 single base substitution A C upstream_gene_variant PACA-CA 2 106360681 106360682 deletion of <=200bp GA - upstream_gene_variant PACA-CA 2 106369921 106369921 single base substitution G T intron_variant PACA-CA 2 106372544 106372544 deletion of <=200bp T - intron_variant PACA-CA 2 106382262 106382262 single base substitution G C intron_variant PACA-CA 2 106383608 106383608 single base substitution C A intron_variant PACA-CA 2 106384748 106384748 single base substitution G T intron_variant PACA-CA 2 106390685 106390685 single base substitution C T intron_variant PACA-CA 2 106393921 106393921 single base substitution G A intron_variant PACA-CA 2 106399479 106399479 single base substitution T C intron_variant PACA-CA 2 106405708 106405708 single base substitution G A intron_variant PACA-CA 2 106406373 106406373 single base substitution C T intron_variant PACA-CA 2 106408076 106408076 single base substitution T G intron_variant PACA-CA 2 106412104 106412104 single base substitution T C intron_variant PACA-CA 2 106416852 106416852 single base substitution G A intron_variant PACA-CA 2 106421497 106421497 single base substitution C G intron_variant PACA-CA 2 106421610 106421610 single base substitution G A intron_variant PACA-CA 2 106423168 106423168 deletion of <=200bp A - intron_variant PACA-CA 2 106423429 106423429 single base substitution C G intron_variant PACA-CA 2 106430343 106430343 single base substitution C T intron_variant PACA-CA 2 106430343 106430343 single base substitution C T upstream_gene_variant PACA-CA 2 106432278 106432278 single base substitution G A intron_variant PACA-CA 2 106432278 106432278 single base substitution G A upstream_gene_variant PACA-CA 2 106434839 106434839 single base substitution C A intron_variant PACA-CA 2 106437450 106437450 single base substitution C G intron_variant PACA-CA 2 106438767 106438767 single base substitution G T intron_variant PACA-CA 2 106440468 106440468 single base substitution T G intron_variant PACA-CA 2 106442189 106442189 single base substitution C A intron_variant PACA-CA 2 106443746 106443746 single base substitution C T intron_variant PACA-CA 2 106444233 106444233 single base substitution C G intron_variant PACA-CA 2 106445112 106445112 single base substitution A G intron_variant PACA-CA 2 106446170 106446170 single base substitution C T intron_variant PACA-CA 2 106447147 106447147 single base substitution G A intron_variant PACA-CA 2 106447258 106447258 deletion of <=200bp T - intron_variant PACA-CA 2 106448223 106448223 single base substitution C A intron_variant PACA-CA 2 106450330 106450330 single base substitution A T intron_variant PACA-CA 2 106455548 106455548 single base substitution A G intron_variant PACA-CA 2 106458679 106458679 single base substitution T C intron_variant PACA-CA 2 106461338 106461338 single base substitution T A intron_variant PACA-CA 2 106461688 106461703 deletion of <=200bp AATCTGTTTTTAAAAA - intron_variant PACA-CA 2 106466501 106466501 single base substitution A T intron_variant PACA-CA 2 106466501 106466501 single base substitution A T upstream_gene_variant PACA-CA 2 106467742 106467742 single base substitution C T intron_variant PACA-CA 2 106467742 106467742 single base substitution C T upstream_gene_variant PACA-CA 2 106468795 106468795 single base substitution G A intron_variant PACA-CA 2 106469208 106469208 single base substitution C G intron_variant PACA-CA 2 106469457 106469457 single base substitution A T intron_variant PACA-CA 2 106472648 106472648 single base substitution G T intron_variant PACA-CA 2 106474635 106474635 single base substitution C A intron_variant PACA-CA 2 106476085 106476085 single base substitution G C intron_variant PACA-CA 2 106482008 106482008 single base substitution C T intron_variant PACA-CA 2 106482661 106482661 single base substitution T C intron_variant PACA-CA 2 106483339 106483339 deletion of <=200bp A - intron_variant PACA-CA 2 106483341 106483341 deletion of <=200bp T - intron_variant PACA-CA 2 106483386 106483386 single base substitution C G intron_variant PACA-CA 2 106484589 106484589 single base substitution G A intron_variant PACA-CA 2 106484935 106484935 single base substitution T G intron_variant PACA-CA 2 106485451 106485451 single base substitution C T intron_variant PACA-CA 2 106489745 106489745 single base substitution C T intron_variant PACA-CA 2 106491810 106491810 single base substitution G A intron_variant PACA-CA 2 106497481 106497481 single base substitution A G intron_variant PACA-CA 2 106499027 106499027 single base substitution A G downstream_gene_variant PACA-CA 2 106499027 106499027 single base substitution A G intron_variant PACA-CA 2 106504752 106504752 single base substitution C A intron_variant PACA-CA 2 106505732 106505732 single base substitution G T intron_variant PACA-CA 2 106507225 106507225 single base substitution A G intron_variant PACA-CA 2 106512073 106512073 single base substitution T G downstream_gene_variant PAEN-AU 2 106477233 106477233 single base substitution T G intron_variant PAEN-AU 2 106483783 106483783 insertion of <=200bp - T intron_variant PAEN-IT 2 106369108 106369108 single base substitution A G intron_variant PAEN-IT 2 106450696 106450696 single base substitution G A intron_variant PAEN-IT 2 106488106 106488106 single base substitution A G intron_variant PAEN-IT 2 106498140 106498140 single base substitution C T downstream_gene_variant PAEN-IT 2 106498140 106498140 single base substitution C T intron_variant PAEN-IT 2 106498140 106498140 single base substitution C T missense_variant R195C 583C>T PBCA-DE 2 106364304 106364304 single base substitution G A intron_variant PBCA-DE 2 106369369 106369370 deletion of <=200bp AC - intron_variant PBCA-DE 2 106370172 106370172 single base substitution T G intron_variant PBCA-DE 2 106373082 106373082 single base substitution T A intron_variant PBCA-DE 2 106377249 106377250 deletion of <=200bp GA - intron_variant PBCA-DE 2 106391784 106391784 single base substitution C A intron_variant PBCA-DE 2 106407802 106407802 deletion of <=200bp T - intron_variant PBCA-DE 2 106408080 106408080 single base substitution G A intron_variant PBCA-DE 2 106409061 106409061 deletion of <=200bp T - intron_variant PBCA-DE 2 106413032 106413032 single base substitution G C intron_variant PBCA-DE 2 106417924 106417924 single base substitution A G intron_variant PBCA-DE 2 106431289 106431289 single base substitution A T intron_variant PBCA-DE 2 106431289 106431289 single base substitution A T upstream_gene_variant PBCA-DE 2 106436999 106436999 single base substitution G A intron_variant PBCA-DE 2 106448532 106448532 single base substitution C T intron_variant PBCA-DE 2 106464854 106464854 deletion of <=200bp G - intron_variant PBCA-DE 2 106464854 106464854 deletion of <=200bp G - upstream_gene_variant PBCA-DE 2 106472564 106472564 deletion of <=200bp A - intron_variant PBCA-DE 2 106472566 106472577 deletion of <=200bp AGGCGTGAGCCA - intron_variant PBCA-DE 2 106472789 106472789 single base substitution G A intron_variant PBCA-DE 2 106472906 106472906 single base substitution T A intron_variant PBCA-DE 2 106474503 106474503 single base substitution G T intron_variant PBCA-DE 2 106478481 106478481 single base substitution A G intron_variant PBCA-DE 2 106482359 106482359 insertion of <=200bp - TATTATTAT intron_variant PBCA-DE 2 106487960 106487960 insertion of <=200bp - T intron_variant PBCA-DE 2 106498896 106498896 single base substitution C T downstream_gene_variant PBCA-DE 2 106498896 106498896 single base substitution C T intron_variant PBCA-DE 2 106502502 106502502 single base substitution G C downstream_gene_variant PBCA-DE 2 106502502 106502502 single base substitution G C intron_variant PBCA-DE 2 106506530 106506530 single base substitution T C intron_variant PBCA-DE 2 106509148 106509148 insertion of <=200bp - A intron_variant PRAD-CA 2 106396786 106396786 single base substitution C T intron_variant PRAD-CA 2 106398715 106398715 single base substitution C T intron_variant PRAD-CA 2 106424204 106424204 single base substitution T C intron_variant PRAD-CA 2 106446783 106446783 single base substitution T G intron_variant PRAD-CA 2 106451869 106451869 single base substitution A G intron_variant PRAD-CA 2 106510478 106510478 single base substitution A C 3_prime_UTR_variant PRAD-CA 2 106510478 106510478 single base substitution A C downstream_gene_variant PRAD-UK 2 106356713 106356713 single base substitution G T upstream_gene_variant PRAD-UK 2 106360196 106360196 single base substitution C A upstream_gene_variant PRAD-UK 2 106362541 106362541 single base substitution C T intron_variant PRAD-UK 2 106374426 106374426 single base substitution C G intron_variant PRAD-UK 2 106380293 106380293 single base substitution T G intron_variant PRAD-UK 2 106382600 106382600 single base substitution C T intron_variant PRAD-UK 2 106402348 106402348 single base substitution A T intron_variant PRAD-UK 2 106421434 106421434 single base substitution A C intron_variant PRAD-UK 2 106425316 106425316 single base substitution G A intron_variant PRAD-UK 2 106454223 106454223 single base substitution C T intron_variant PRAD-UK 2 106461327 106461327 single base substitution T G intron_variant PRAD-UK 2 106483920 106483920 single base substitution C G intron_variant PRAD-UK 2 106489293 106489293 single base substitution C A intron_variant PRAD-UK 2 106495652 106495652 single base substitution A G intron_variant PRAD-UK 2 106497250 106497250 single base substitution G C intron_variant PRAD-UK 2 106500084 106500084 single base substitution G A downstream_gene_variant PRAD-UK 2 106500084 106500084 single base substitution G A intron_variant PRAD-UK 2 106500506 106500506 single base substitution G A downstream_gene_variant PRAD-UK 2 106500506 106500506 single base substitution G A intron_variant PRAD-UK 2 106506494 106506494 single base substitution G C intron_variant PRAD-UK 2 106507679 106507679 single base substitution C T intron_variant PRAD-UK 2 106511043 106511043 single base substitution G T downstream_gene_variant PRAD-US 2 106497794 106497794 single base substitution G A intron_variant PRAD-US 2 106497794 106497794 single base substitution G A synonymous_variant K79K 237G>A READ-US 2 106497813 106497813 single base substitution G A intron_variant READ-US 2 106497813 106497813 single base substitution G A missense_variant A86T 256G>A READ-US 2 106498143 106498143 single base substitution G A downstream_gene_variant READ-US 2 106498143 106498143 single base substitution G A intron_variant READ-US 2 106498143 106498143 single base substitution G A missense_variant V196M 586G>A RECA-EU 2 106362616 106362616 single base substitution T C intron_variant RECA-EU 2 106362848 106362848 single base substitution T C intron_variant RECA-EU 2 106366490 106366490 single base substitution A C intron_variant RECA-EU 2 106373047 106373047 single base substitution C A intron_variant RECA-EU 2 106377142 106377142 single base substitution G T intron_variant RECA-EU 2 106381240 106381240 single base substitution A T intron_variant RECA-EU 2 106387382 106387382 single base substitution C T intron_variant RECA-EU 2 106417805 106417805 single base substitution A T intron_variant RECA-EU 2 106422914 106422914 single base substitution T A intron_variant RECA-EU 2 106435298 106435298 single base substitution G C intron_variant RECA-EU 2 106439350 106439350 single base substitution G T intron_variant RECA-EU 2 106446965 106446965 single base substitution G C intron_variant RECA-EU 2 106446966 106446966 single base substitution G T intron_variant RECA-EU 2 106452758 106452758 single base substitution T G intron_variant RECA-EU 2 106462907 106462907 single base substitution A T intron_variant RECA-EU 2 106466789 106466789 single base substitution G A intron_variant RECA-EU 2 106466789 106466789 single base substitution G A upstream_gene_variant RECA-EU 2 106473503 106473503 single base substitution T A intron_variant RECA-EU 2 106474613 106474613 single base substitution T A intron_variant RECA-EU 2 106483136 106483136 single base substitution C A intron_variant RECA-EU 2 106484869 106484869 single base substitution C T intron_variant RECA-EU 2 106488612 106488612 single base substitution G C intron_variant RECA-EU 2 106492592 106492592 single base substitution G T intron_variant RECA-EU 2 106493039 106493039 single base substitution T G intron_variant RECA-EU 2 106495323 106495323 single base substitution T G intron_variant RECA-EU 2 106505068 106505068 single base substitution A C intron_variant RECA-EU 2 106507588 106507588 single base substitution A T intron_variant SKCA-BR 2 106356824 106356824 single base substitution G A upstream_gene_variant SKCA-BR 2 106357080 106357080 single base substitution C T upstream_gene_variant SKCA-BR 2 106357257 106357257 single base substitution T C upstream_gene_variant SKCA-BR 2 106357343 106357343 single base substitution C T upstream_gene_variant SKCA-BR 2 106358135 106358135 single base substitution A G upstream_gene_variant SKCA-BR 2 106360337 106360337 single base substitution A G upstream_gene_variant SKCA-BR 2 106361862 106361862 single base substitution A G intron_variant SKCA-BR 2 106361862 106361862 single base substitution A G upstream_gene_variant SKCA-BR 2 106363536 106363536 single base substitution G A intron_variant SKCA-BR 2 106363590 106363590 single base substitution T A intron_variant SKCA-BR 2 106367681 106367681 single base substitution G C intron_variant SKCA-BR 2 106367860 106367860 single base substitution A T intron_variant SKCA-BR 2 106372542 106372542 single base substitution T A intron_variant SKCA-BR 2 106373235 106373235 single base substitution G A intron_variant SKCA-BR 2 106374131 106374131 single base substitution T C intron_variant SKCA-BR 2 106377927 106377927 single base substitution A T intron_variant SKCA-BR 2 106380505 106380505 single base substitution T G intron_variant SKCA-BR 2 106382123 106382123 insertion of <=200bp - GTT intron_variant SKCA-BR 2 106383168 106383168 single base substitution T G intron_variant SKCA-BR 2 106384318 106384318 single base substitution A C intron_variant SKCA-BR 2 106384319 106384319 single base substitution C T intron_variant SKCA-BR 2 106385737 106385737 single base substitution T C intron_variant SKCA-BR 2 106387382 106387382 single base substitution C T intron_variant SKCA-BR 2 106390115 106390115 single base substitution T A intron_variant SKCA-BR 2 106392431 106392431 single base substitution C T intron_variant SKCA-BR 2 106395782 106395782 single base substitution G A intron_variant SKCA-BR 2 106396776 106396776 insertion of <=200bp - GAT intron_variant SKCA-BR 2 106396784 106396784 single base substitution C T intron_variant SKCA-BR 2 106398232 106398232 single base substitution C T intron_variant SKCA-BR 2 106398603 106398603 single base substitution G A intron_variant SKCA-BR 2 106402083 106402083 single base substitution G A intron_variant SKCA-BR 2 106404857 106404857 single base substitution C T intron_variant SKCA-BR 2 106406225 106406225 single base substitution G C intron_variant SKCA-BR 2 106406673 106406673 single base substitution T C intron_variant SKCA-BR 2 106407925 106407925 single base substitution T C intron_variant SKCA-BR 2 106410679 106410679 single base substitution G T intron_variant SKCA-BR 2 106412547 106412547 single base substitution G A intron_variant SKCA-BR 2 106416261 106416261 single base substitution C T intron_variant SKCA-BR 2 106416663 106416663 single base substitution T A intron_variant SKCA-BR 2 106419920 106419920 single base substitution C T intron_variant SKCA-BR 2 106424934 106424934 single base substitution C G intron_variant SKCA-BR 2 106426512 106426512 single base substitution A G intron_variant SKCA-BR 2 106426615 106426615 single base substitution T C intron_variant SKCA-BR 2 106428644 106428644 single base substitution G A intron_variant SKCA-BR 2 106428644 106428644 single base substitution G A upstream_gene_variant SKCA-BR 2 106428720 106428720 single base substitution G A intron_variant SKCA-BR 2 106428720 106428720 single base substitution G A upstream_gene_variant SKCA-BR 2 106430055 106430055 single base substitution G A intron_variant SKCA-BR 2 106430055 106430055 single base substitution G A upstream_gene_variant SKCA-BR 2 106431166 106431166 single base substitution A G intron_variant SKCA-BR 2 106431166 106431166 single base substitution A G upstream_gene_variant SKCA-BR 2 106433950 106433950 single base substitution A G intron_variant SKCA-BR 2 106435783 106435784 deletion of <=200bp TA - intron_variant SKCA-BR 2 106436374 106436375 deletion of <=200bp TA - intron_variant SKCA-BR 2 106439732 106439732 single base substitution A G intron_variant SKCA-BR 2 106444346 106444346 single base substitution A G intron_variant SKCA-BR 2 106445274 106445274 single base substitution C T intron_variant SKCA-BR 2 106446206 106446206 single base substitution C T intron_variant SKCA-BR 2 106446892 106446892 single base substitution C T intron_variant SKCA-BR 2 106447149 106447149 insertion of <=200bp - GTGTGTGTGTGTGTGTA intron_variant SKCA-BR 2 106447797 106447797 single base substitution G A intron_variant SKCA-BR 2 106447866 106447866 insertion of <=200bp - CT intron_variant SKCA-BR 2 106451648 106451648 single base substitution G A intron_variant SKCA-BR 2 106451830 106451830 insertion of <=200bp - TATTA intron_variant SKCA-BR 2 106451840 106451844 deletion of <=200bp TACAC - intron_variant SKCA-BR 2 106451859 106451859 single base substitution A G intron_variant SKCA-BR 2 106451861 106451865 deletion of <=200bp ACGTG - intron_variant SKCA-BR 2 106452243 106452243 single base substitution C T intron_variant SKCA-BR 2 106453572 106453572 single base substitution C T intron_variant SKCA-BR 2 106460888 106460888 single base substitution A G intron_variant SKCA-BR 2 106461030 106461031 deletion of <=200bp CA - intron_variant SKCA-BR 2 106461034 106461034 single base substitution A C intron_variant SKCA-BR 2 106463241 106463241 single base substitution A G intron_variant SKCA-BR 2 106463241 106463241 single base substitution A G upstream_gene_variant SKCA-BR 2 106471680 106471680 single base substitution A G missense_variant N54S 161A>G SKCA-BR 2 106471979 106471979 single base substitution C T intron_variant SKCA-BR 2 106478751 106478751 single base substitution A G intron_variant SKCA-BR 2 106479925 106479925 single base substitution G A intron_variant SKCA-BR 2 106482358 106482358 insertion of <=200bp - ATATTATTAT intron_variant SKCA-BR 2 106488388 106488388 single base substitution T C intron_variant SKCA-BR 2 106494205 106494205 single base substitution A C intron_variant SKCA-BR 2 106494765 106494765 single base substitution C T intron_variant SKCA-BR 2 106497679 106497679 single base substitution C T intron_variant SKCA-BR 2 106498021 106498021 single base substitution G A downstream_gene_variant SKCA-BR 2 106498021 106498021 single base substitution G A intron_variant SKCA-BR 2 106498021 106498021 single base substitution G A missense_variant G155E 464G>A SKCA-BR 2 106506045 106506045 single base substitution T A intron_variant SKCA-BR 2 106508038 106508038 single base substitution C T intron_variant SKCA-BR 2 106509301 106509301 insertion of <=200bp - CA intron_variant SKCA-BR 2 106511846 106511846 single base substitution T C downstream_gene_variant SKCA-BR 2 106512879 106512879 single base substitution C A downstream_gene_variant SKCA-BR 2 106513551 106513551 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 2 106513551 106513551 insertion of <=200bp - CTT downstream_gene_variant SKCA-BR 2 106515340 106515340 single base substitution C T downstream_gene_variant SKCM-US 2 106497949 106497949 single base substitution C T downstream_gene_variant SKCM-US 2 106497949 106497949 single base substitution C T intron_variant SKCM-US 2 106497949 106497949 single base substitution C T missense_variant S131F 392C>T SKCM-US 2 106498219 106498219 single base substitution C T downstream_gene_variant SKCM-US 2 106498219 106498219 single base substitution C T intron_variant SKCM-US 2 106498219 106498219 single base substitution C T missense_variant T221I 662C>T SKCM-US 2 106498299 106498299 single base substitution C T downstream_gene_variant SKCM-US 2 106498299 106498299 single base substitution C T intron_variant SKCM-US 2 106498299 106498299 single base substitution C T missense_variant P248S 742C>T SKCM-US 2 106498356 106498356 single base substitution C G downstream_gene_variant SKCM-US 2 106498356 106498356 single base substitution C G intron_variant SKCM-US 2 106498356 106498356 single base substitution C G missense_variant P267A 799C>G SKCM-US 2 106498412 106498412 single base substitution G T downstream_gene_variant SKCM-US 2 106498412 106498412 single base substitution G T intron_variant SKCM-US 2 106498412 106498412 single base substitution G T missense_variant W285C 855G>T SKCM-US 2 106498441 106498441 single base substitution C T downstream_gene_variant SKCM-US 2 106498441 106498441 single base substitution C T intron_variant SKCM-US 2 106498441 106498441 single base substitution C T missense_variant A295V 884C>T SKCM-US 2 106509458 106509458 single base substitution C T missense_variant P83S 247C>T SKCM-US 2 106509458 106509458 single base substitution C T synonymous_variant S323S 969C>T STAD-US 2 106471695 106471695 single base substitution A C missense_variant K59T 176A>C STAD-US 2 106497812 106497812 single base substitution C T intron_variant STAD-US 2 106497812 106497812 single base substitution C T synonymous_variant S85S 255C>T STAD-US 2 106497824 106497824 single base substitution G A intron_variant STAD-US 2 106497824 106497824 single base substitution G A synonymous_variant A89A 267G>A STAD-US 2 106497875 106497875 single base substitution C T intron_variant STAD-US 2 106497875 106497875 single base substitution C T synonymous_variant A106A 318C>T STAD-US 2 106497880 106497880 single base substitution G A intron_variant STAD-US 2 106497880 106497880 single base substitution G A missense_variant R108H 323G>A STAD-US 2 106497989 106497989 single base substitution C G downstream_gene_variant STAD-US 2 106497989 106497989 single base substitution C G intron_variant STAD-US 2 106497989 106497989 single base substitution C G missense_variant C144W 432C>G STAD-US 2 106498310 106498310 single base substitution C T downstream_gene_variant STAD-US 2 106498310 106498310 single base substitution C T intron_variant STAD-US 2 106498310 106498310 single base substitution C T synonymous_variant Y251Y 753C>T STAD-US 2 106498349 106498349 single base substitution G A downstream_gene_variant STAD-US 2 106498349 106498349 single base substitution G A intron_variant STAD-US 2 106498349 106498349 single base substitution G A synonymous_variant A264A 792G>A STAD-US 2 106498353 106498353 single base substitution G A downstream_gene_variant STAD-US 2 106498353 106498353 single base substitution G A intron_variant STAD-US 2 106498353 106498353 single base substitution G A missense_variant A266T 796G>A STAD-US 2 106509597 106509597 single base substitution G A 3_prime_UTR_variant STAD-US 2 106509597 106509597 single base substitution G A missense_variant G370R 1108G>A THCA-SA 2 106510184 106510184 single base substitution C T 3_prime_UTR_variant THCA-SA 2 106510184 106510184 single base substitution C T downstream_gene_variant UCEC-US 2 106471537 106471537 single base substitution T G missense_variant I6M 18T>G UCEC-US 2 106471619 106471619 single base substitution G A missense_variant D34N 100G>A UCEC-US 2 106471637 106471637 single base substitution C T missense_variant R40W 118C>T UCEC-US 2 106471675 106471675 single base substitution G A synonymous_variant P52P 156G>A UCEC-US 2 106497898 106497898 single base substitution T A downstream_gene_variant UCEC-US 2 106497898 106497898 single base substitution T A intron_variant UCEC-US 2 106497898 106497898 single base substitution T A missense_variant I114N 341T>A UCEC-US 2 106498188 106498188 single base substitution G A downstream_gene_variant UCEC-US 2 106498188 106498188 single base substitution G A intron_variant UCEC-US 2 106498188 106498188 single base substitution G A missense_variant E211K 631G>A UCEC-US 2 106498393 106498393 single base substitution G A downstream_gene_variant UCEC-US 2 106498393 106498393 single base substitution G A intron_variant UCEC-US 2 106498393 106498393 single base substitution G A missense_variant R279H 836G>A UCEC-US 2 106509466 106509466 single base substitution C T 3_prime_UTR_variant UCEC-US 2 106509466 106509466 single base substitution C T missense_variant A326V 977C>T UCEC-US 2 106509519 106509519 single base substitution A G 3_prime_UTR_variant UCEC-US 2 106509519 106509519 single base substitution A G missense_variant I344V 1030A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EE-A2MJ-06 COSM3564688 c.884C>T p.A295V Substitution - Missense 2:105881985-105881985 + TCGA-AA-3510-01 COSM3694811 c.360C>T p.F120F Substitution - coding silent 2:105881461-105881461 + TCGA-B5-A0JY-01 COSM1004778 c.100G>A p.D34N Substitution - Missense 2:105855163-105855163 + HCC037T COSM5811890 c.43G>T p.A15S Substitution - Missense 2:105855106-105855106 + DLD1 COSM1669192 c.771C>A p.D257E Substitution - Missense 2:105881872-105881872 + 64 COSM5742591 c.1126G>A p.V376I Substitution - Missense 2:105893159-105893159 + TCGA-A8-A07E-01 COSM440935 c.34G>T p.D12Y Substitution - Missense 2:105855097-105855097 + TCGA-CD-A4MG-01 COSM4083957 c.176A>C p.K59T Substitution - Missense 2:105855239-105855239 + LUAD-VUMN6 COSM347992 c.733G>T p.G245C Substitution - Missense 2:105881834-105881834 + TCGA-BR-4370-01 COSM4083967 c.753C>T p.Y251Y Substitution - coding silent 2:105881854-105881854 + PTC-10C COSM4132936 c.448C>A p.R150R Substitution - coding silent 2:105881549-105881549 + PTC-14C COSM4132938 c.593A>G p.H198R Substitution - Missense 2:105881694-105881694 + TCGA-B5-A0JY-01 COSM1004780 c.100G>A p.D34N Substitution - Missense 2:105855163-105855163 + HCC119 COSM1613256 c.765C>T p.L255L Substitution - coding silent 2:105881866-105881866 + T3048 COSM4705872 c.99C>T p.D33D Substitution - coding silent 2:105855162-105855162 + TCGA-EK-A2RA-01 COSM4848178 c.135C>A p.A45A Substitution - coding silent 2:105855198-105855198 + B90-Tumor COSM1751962 c.303C>T p.A101A Substitution - coding silent 2:105881404-105881404 + BD72T COSM5511752 c.556G>A p.A186T Substitution - Missense 2:105881657-105881657 + WSU-HN6 COSM4602061 c.28A>C p.K10Q Substitution - Missense 2:105855091-105855091 + HCC2998 COSM2981301 c.674T>C p.I225T Substitution - Missense 2:105881775-105881775 + LUAD-VUMN6 COSM347993 c.733G>T p.G245C Substitution - Missense 2:105881834-105881834 + TCGA-D1-A177-01 COSM1004793 c.836G>A p.R279H Substitution - Missense 2:105881937-105881937 + LUAD-CHTN-MAD06-00668 COSM359492 c.807A>T p.I269I Substitution - coding silent 2:105881908-105881908 + PD8610a COSM5789177 c.835C>T p.R279C Substitution - Missense 2:105881936-105881936 + S00501 COSM5658357 c.1128C>T p.V376V Substitution - coding silent 2:105893161-105893161 + HCC5T COSM3708789 c.319G>T p.D107Y Substitution - Missense 2:105881420-105881420 + 19 COSM2981282 c.547C>T p.R183C Substitution - Missense 2:105881648-105881648 + TCGA-D8-A1JA-01 COSM3836478 c.414C>T p.V138V Substitution - coding silent 2:105881515-105881515 + BD49T COSM5497645 c.867C>T p.N289N Substitution - coding silent 2:105881968-105881968 + HCT15 COSM1669193 c.771C>A p.D257E Substitution - Missense 2:105881872-105881872 + T407 COSM4705879 c.584G>A p.R195H Substitution - Missense 2:105881685-105881685 + TCGA-EE-A2GB-06 COSM3564679 c.392C>T p.S131F Substitution - Missense 2:105881493-105881493 + TCGA-HU-A4GD-01 COSM4083961 c.267G>A p.A89A Substitution - coding silent 2:105881368-105881368 + BD72T COSM5511753 c.556G>A p.A186T Substitution - Missense 2:105881657-105881657 + ATL071 COSM5707706 c.966G>A p.V322V Substitution - coding silent 2:105892999-105892999 + HCC037T COSM5811891 c.43G>T p.A15S Substitution - Missense 2:105855106-105855106 + sysucc-274T COSM5476196 c.725G>A p.G242D Substitution - Missense 2:105881826-105881826 + BD243T COSM3938448 c.690C>T p.N230N Substitution - coding silent 2:105881791-105881791 + TCGA-FP-A4BE-01 COSM4083959 c.255C>T p.S85S Substitution - coding silent 2:105881356-105881356 + C91 COSM4444730 c.1085C>T p.A362V Substitution - Missense 2:105893118-105893118 + T3262 COSM4705880 c.817G>A p.G273R Substitution - Missense 2:105881918-105881918 + ATL071 COSM5707705 c.966G>A p.V322V Substitution - coding silent 2:105892999-105892999 + 8067182 COSM3772387 c.257C>T p.A86V Substitution - Missense 2:105881358-105881358 + 19 COSM2981283 c.547C>T p.R183C Substitution - Missense 2:105881648-105881648 + TCGA-CG-5723-01 COSM2981270 c.323G>A p.R108H Substitution - Missense 2:105881424-105881424 + T3094 COSM4705870 c.66C>A p.D22E Substitution - Missense 2:105855129-105855129 + TCGA-CD-A4MG-01 COSM4083963 c.318C>T p.A106A Substitution - coding silent 2:105881419-105881419 + LUAD-RT-S01699 COSM378305 c.817G>T p.G273W Substitution - Missense 2:105881918-105881918 + B90-Tumor COSM1751963 c.303C>T p.A101A Substitution - coding silent 2:105881404-105881404 + 2521249 COSM5887706 c.951C>T p.P317P Substitution - coding silent 2:105892984-105892984 + 8067182 COSM3772386 c.257C>T p.A86V Substitution - Missense 2:105881358-105881358 + LC_C14 COSM1185974 c.1130G>C p.R377T Substitution - Missense 2:105893163-105893163 + TCGA-FP-A4BE-01 COSM4083960 c.255C>T p.S85S Substitution - coding silent 2:105881356-105881356 + TCGA-CG-5723-01 COSM2981269 c.323G>A p.R108H Substitution - Missense 2:105881424-105881424 + T3091 COSM4083971 c.796G>A p.A266T Substitution - Missense 2:105881897-105881897 + HCT-15 COSM1669192 c.771C>A p.D257E Substitution - Missense 2:105881872-105881872 + TCGA-D1-A177-01 COSM1004789 c.734G>T p.G245V Substitution - Missense 2:105881835-105881835 + TCGA-AP-A0LE-01 COSM1004796 c.1030A>G p.I344V Substitution - Missense 2:105893063-105893063 + ESCC-219T COSM3938448 c.690C>T p.N230N Substitution - coding silent 2:105881791-105881791 + BD72T COSM5511750 c.202G>A p.V68M Substitution - Missense 2:105855265-105855265 + TCGA-AA-3713-01 COSM1398600 c.825G>A p.S275S Substitution - coding silent 2:105881926-105881926 + 938T COSM2981293 c.583C>T p.R195C Substitution - Missense 2:105881684-105881684 + TCGA-AP-A0LT-01 COSM1004781 c.118C>T p.R40W Substitution - Missense 2:105855181-105855181 + HCC119T COSM1613256 c.765C>T p.L255L Substitution - coding silent 2:105881866-105881866 + TCGA-HC-8261-01 COSM4391812 c.237G>A p.K79K Substitution - coding silent 2:105881338-105881338 + BD72T COSM5511751 c.202G>A p.V68M Substitution - Missense 2:105855265-105855265 + HCC174T COSM3708791 c.525G>A p.E175E Substitution - coding silent 2:105881626-105881626 + TCGA-HU-A4G9-01 COSM4083969 c.792G>A p.A264A Substitution - coding silent 2:105881893-105881893 + LUAD-RT-S01777 COSM382163 c.118C>G p.R40G Substitution - Missense 2:105855181-105855181 + TCGA-CM-4746-01 COSM1398602 c.1042C>T p.R348C Substitution - Missense 2:105893075-105893075 + B90 COSM1751963 c.303C>T p.A101A Substitution - coding silent 2:105881404-105881404 + cSCCP8 COSM144110 c.771C>G p.D257E Substitution - Missense 2:105881872-105881872 + LUAD-B00416 COSM331243 c.919G>C p.D307H Substitution - Missense 2:105882020-105882020 + PTC-50C COSM4132940 c.648C>A p.F216L Substitution - Missense 2:105881749-105881749 + PD8610a COSM5789176 c.835C>T p.R279C Substitution - Missense 2:105881936-105881936 + 2521249 COSM5887707 c.951C>T p.P317P Substitution - coding silent 2:105892984-105892984 + B90 COSM1751962 c.303C>T p.A101A Substitution - coding silent 2:105881404-105881404 + T3262 COSM4705876 c.492C>T p.Y164Y Substitution - coding silent 2:105881593-105881593 + BCM265T COSM4949961 c.861C>A p.Y287* Substitution - Nonsense 2:105881962-105881962 + TCGA-EB-A3Y7-01 COSM3564680 c.662C>T p.T221I Substitution - Missense 2:105881763-105881763 + T3262 COSM4705877 c.492C>T p.Y164Y Substitution - coding silent 2:105881593-105881593 + TCGA-AA-A00N-01 COSM276271 c.360C>T p.F120F Substitution - coding silent 2:105881461-105881461 + TCGA-HU-A4G9-01 COSM4083970 c.792G>A p.A264A Substitution - coding silent 2:105881893-105881893 + T3094 COSM4705871 c.66C>A p.D22E Substitution - Missense 2:105855129-105855129 + C91 COSM4444729 c.1085C>T p.A362V Substitution - Missense 2:105893118-105893118 + HCC174 COSM3708791 c.525G>A p.E175E Substitution - coding silent 2:105881626-105881626 + TCGA-BR-8081-01 COSM4083974 c.1108G>A p.G370R Substitution - Missense 2:105893141-105893141 + TCGA-D1-A177-01 COSM1004791 c.836G>A p.R279H Substitution - Missense 2:105881937-105881937 + HCC060T COSM5818066 c.728A>T p.Q243L Substitution - Missense 2:105881829-105881829 + LS411 COSM4646646 c.75G>T p.K25N Substitution - Missense 2:105855138-105855138 + PTC-14C COSM4132937 c.593A>G p.H198R Substitution - Missense 2:105881694-105881694 + BN17 COSM1613254 c.172C>T p.R58W Substitution - Missense 2:105855235-105855235 + TCGA-EE-A2MJ-06 COSM3564689 c.884C>T p.A295V Substitution - Missense 2:105881985-105881985 + TCGA-EB-A3Y7-01 COSM3564681 c.662C>T p.T221I Substitution - Missense 2:105881763-105881763 + HCC174 COSM3708792 c.525G>A p.E175E Substitution - coding silent 2:105881626-105881626 + TCGA-AD-6895-01 COSM1004793 c.836G>A p.R279H Substitution - Missense 2:105881937-105881937 + LC_S51 COSM1185973 c.688A>G p.N230D Substitution - Missense 2:105881789-105881789 + sysucc-274T COSM5476197 c.725G>A p.G242D Substitution - Missense 2:105881826-105881826 + S01864 COSM5671699 c.804G>A p.Q268Q Substitution - coding silent 2:105881905-105881905 + T3048 COSM4705873 c.99C>T p.D33D Substitution - coding silent 2:105855162-105855162 + HT115 COSM2981266 c.292G>A p.E98K Substitution - Missense 2:105881393-105881393 + TCGA-AA-3510-01 COSM276271 c.360C>T p.F120F Substitution - coding silent 2:105881461-105881461 + TCGA-F5-6814-01 COSM2981295 c.586G>A p.V196M Substitution - Missense 2:105881687-105881687 + HCC5T COSM3708790 c.319G>T p.D107Y Substitution - Missense 2:105881420-105881420 + TCGA-EE-A2GB-06 COSM3564678 c.392C>T p.S131F Substitution - Missense 2:105881493-105881493 + BD243T COSM3938449 c.690C>T p.N230N Substitution - coding silent 2:105881791-105881791 + S02285 COSM5684684 c.723G>T p.R241R Substitution - coding silent 2:105881824-105881824 + TCGA-13-0714-01 COSM78150 c.16A>T p.I6F Substitution - Missense 2:105855079-105855079 + TCGA-BR-4370-01 COSM4083968 c.753C>T p.Y251Y Substitution - coding silent 2:105881854-105881854 + STC291 COSM5057965 c.166G>A p.V56M Substitution - Missense 2:105855229-105855229 + S00501 COSM5658358 c.1128C>T p.V376V Substitution - coding silent 2:105893161-105893161 + TCGA-AP-A0LM-01 COSM1004795 c.977C>T p.A326V Substitution - Missense 2:105893010-105893010 + TCGA-AD-6895-01 COSM1004791 c.836G>A p.R279H Substitution - Missense 2:105881937-105881937 + UM-SCC-11B COSM4598048 c.331G>A p.D111N Substitution - Missense 2:105881432-105881432 + TCGA-A8-A09G-01 COSM1481808 c.1023C>T p.V341V Substitution - coding silent 2:105893056-105893056 + HCT8 COSM1669192 c.771C>A p.D257E Substitution - Missense 2:105881872-105881872 + BCM265T COSM4949960 c.861C>A p.Y287* Substitution - Nonsense 2:105881962-105881962 + TCGA-D3-A3C3-06 COSM3564682 c.742C>T p.P248S Substitution - Missense 2:105881843-105881843 + TCGA-BR-4368-01 COSM4083966 c.432C>G p.C144W Substitution - Missense 2:105881533-105881533 + TCGA-BG-A0M4-01 COSM1004798 c.1129A>C p.R377R Substitution - coding silent 2:105893162-105893162 + HT115 COSM2981265 c.292G>A p.E98K Substitution - Missense 2:105881393-105881393 + TCGA-EE-A2A1-06 COSM3564687 c.855G>T p.W285C Substitution - Missense 2:105881956-105881956 + TCGA-CD-A4MG-01 COSM4083964 c.318C>T p.A106A Substitution - coding silent 2:105881419-105881419 + BN17 COSM1613253 c.172C>T p.R58W Substitution - Missense 2:105855235-105855235 + CSCC-32-T COSM4554968 c.637G>A p.E213K Substitution - Missense 2:105881738-105881738 + TCGA-A8-A07E-01 COSM440934 c.34G>T p.D12Y Substitution - Missense 2:105855097-105855097 + TCGA-AA-3713-01 COSM237816 c.825G>A p.S275S Substitution - coding silent 2:105881926-105881926 + HCC119 COSM1613255 c.765C>T p.L255L Substitution - coding silent 2:105881866-105881866 + HCC060T COSM5818067 c.728A>T p.Q243L Substitution - Missense 2:105881829-105881829 + WA16 COSM237816 c.825G>A p.S275S Substitution - coding silent 2:105881926-105881926 + T2197 COSM4705874 c.410G>A p.R137H Substitution - Missense 2:105881511-105881511 + LS411 COSM2981298 c.630C>T p.T210T Substitution - coding silent 2:105881731-105881731 + T2197 COSM4705875 c.410G>A p.R137H Substitution - Missense 2:105881511-105881511 + TCGA-BS-A0UV-01 COSM1004777 c.18T>G p.I6M Substitution - Missense 2:105855081-105855081 + TCGA-A4-8515-01 COSM3990489 c.664A>G p.M222V Substitution - Missense 2:105881765-105881765 + CSCC-27-T COSM276271 c.360C>T p.F120F Substitution - coding silent 2:105881461-105881461 + BD49T COSM5497644 c.867C>T p.N289N Substitution - coding silent 2:105881968-105881968 + TCGA-FW-A3R5-06 COSM3894439 c.969C>T p.S323S Substitution - coding silent 2:105893002-105893002 + CSCC-32-T COSM4554967 c.637G>A p.E213K Substitution - Missense 2:105881738-105881738 + TCGA-21-1071-01 COSM714890 c.676G>C p.E226Q Substitution - Missense 2:105881777-105881777 + ESCC_159 COSM5647103 c.322C>T p.R108C Substitution - Missense 2:105881423-105881423 + TCGA-61-1738-01 COSM1326023 c.84G>T p.R28R Substitution - coding silent 2:105855147-105855147 + TCGA-HU-A4GD-01 COSM4083962 c.267G>A p.A89A Substitution - coding silent 2:105881368-105881368 + TCGA-A4-8515-01 COSM3990490 c.664A>G p.M222V Substitution - Missense 2:105881765-105881765 + HCC5 COSM3708790 c.319G>T p.D107Y Substitution - Missense 2:105881420-105881420 + LS411 COSM4646647 c.75G>T p.K25N Substitution - Missense 2:105855138-105855138 + HCC119T COSM1613255 c.765C>T p.L255L Substitution - coding silent 2:105881866-105881866 + TCGA-AP-A051-01 COSM1004784 c.156G>A p.P52P Substitution - coding silent 2:105855219-105855219 + TCGA-EK-A2RA-01 COSM4848177 c.135C>A p.A45A Substitution - coding silent 2:105855198-105855198 + TCGA-CM-4746-01 COSM1398601 c.1042C>T p.R348C Substitution - Missense 2:105893075-105893075 + TCGA-AP-A051-01 COSM1004783 c.156G>A p.P52P Substitution - coding silent 2:105855219-105855219 + HCC5 COSM3708789 c.319G>T p.D107Y Substitution - Missense 2:105881420-105881420 + TCGA-43-2578-01 COSM714891 c.656G>T p.G219V Substitution - Missense 2:105881757-105881757 + TCGA-F5-6814-01 COSM2981294 c.586G>A p.V196M Substitution - Missense 2:105881687-105881687 + OV207 COSM252642 c.376C>T p.R126W Substitution - Missense 2:105881477-105881477 + TCGA-BR-4368-01 COSM4083965 c.432C>G p.C144W Substitution - Missense 2:105881533-105881533 + ESCC_159 COSM5647104 c.322C>T p.R108C Substitution - Missense 2:105881423-105881423 + TCGA-AP-A0LM-01 COSM1004794 c.977C>T p.A326V Substitution - Missense 2:105893010-105893010 + TCGA-BR-7707-01 COSM4083971 c.796G>A p.A266T Substitution - Missense 2:105881897-105881897 + LIM2551 COSM4644308 c.579C>T p.G193G Substitution - coding silent 2:105881680-105881680 + S00936 COSM313150 c.918C>T p.G306G Substitution - coding silent 2:105882019-105882019 + TCGA-BS-A0UJ-01 COSM1004788 c.631G>A p.E211K Substitution - Missense 2:105881732-105881732 + LIM2551 COSM4644309 c.579C>T p.G193G Substitution - coding silent 2:105881680-105881680 + LS411 COSM2981299 c.630C>T p.T210T Substitution - coding silent 2:105881731-105881731 + RK080_C01 COSM1631231 c.868G>A p.V290M Substitution - Missense 2:105881969-105881969 + BN17T COSM1613253 c.172C>T p.R58W Substitution - Missense 2:105855235-105855235 + 61 COSM5736168 c.954C>T p.S318S Substitution - coding silent 2:105892987-105892987 + T407 COSM4705878 c.584G>A p.R195H Substitution - Missense 2:105881685-105881685 + UM-SCC-11B COSM4598049 c.331G>A p.D111N Substitution - Missense 2:105881432-105881432 + sysucc-834T COSM5486164 c.964G>A p.V322M Substitution - Missense 2:105892997-105892997 + CSCC-27-T COSM3694811 c.360C>T p.F120F Substitution - coding silent 2:105881461-105881461 + PTC-50C COSM4132939 c.648C>A p.F216L Substitution - Missense 2:105881749-105881749 + CSCC-7-T COSM4555921 c.672G>A p.V224V Substitution - coding silent 2:105881773-105881773 + PT15_1 COSM5897383 c.824C>T p.S275L Substitution - Missense 2:105881925-105881925 + TCGA-HC-8261-01 COSM4391811 c.237G>A p.K79K Substitution - coding silent 2:105881338-105881338 + sysucc-834T COSM5486163 c.964G>A p.V322M Substitution - Missense 2:105892997-105892997 + TCGA-D8-A1JA-01 COSM3836477 c.414C>T p.V138V Substitution - coding silent 2:105881515-105881515 + ESO-0015 COSM1258807 c.1047C>G p.F349L Substitution - Missense 2:105893080-105893080 + 88_T COSM3960916 c.600C>G p.V200V Substitution - coding silent 2:105881701-105881701 + 938T COSM2981292 c.583C>T p.R195C Substitution - Missense 2:105881684-105881684 + HCC2998 COSM2981300 c.674T>C p.I225T Substitution - Missense 2:105881775-105881775 + TCGA-D3-A3C3-06 COSM3564683 c.742C>T p.P248S Substitution - Missense 2:105881843-105881843 + 49M COSM5592065 c.135C>T p.A45A Substitution - coding silent 2:105855198-105855198 + ESO-0015 COSM1258808 c.1047C>G p.F349L Substitution - Missense 2:105893080-105893080 + 64 COSM5742590 c.1126G>A p.V376I Substitution - Missense 2:105893159-105893159 + TCGA-EB-A3XC-01 COSM3564685 c.799C>G p.P267A Substitution - Missense 2:105881900-105881900 + HCT8 COSM1669193 c.771C>A p.D257E Substitution - Missense 2:105881872-105881872 + 587376 COSM1216812 c.682C>T p.P228S Substitution - Missense 2:105881783-105881783 + CSCC-7-T COSM4555922 c.672G>A p.V224V Substitution - coding silent 2:105881773-105881773 + LUAD-RT-S01777 COSM382162 c.116G>T p.W39L Substitution - Missense 2:105855179-105855179 + TCGA-61-1738-01 COSM1326022 c.84G>T p.R28R Substitution - coding silent 2:105855147-105855147 + BN17T COSM1613254 c.172C>T p.R58W Substitution - Missense 2:105855235-105855235 + TCGA-FW-A3R5-06 COSM3894438 c.969C>T p.S323S Substitution - coding silent 2:105893002-105893002 + TCGA-BR-8081-01 COSM4083973 c.1108G>A p.G370R Substitution - Missense 2:105893141-105893141 + BCM265T COSM4949961 c.861C>A p.Y287* Substitution - Nonsense 2:105881962-105881962 + HCT15 COSM1669192 c.771C>A p.D257E Substitution - Missense 2:105881872-105881872 + PTC-10C COSM4132935 c.448C>A p.R150R Substitution - coding silent 2:105881549-105881549 + HCT-15 COSM1669193 c.771C>A p.D257E Substitution - Missense 2:105881872-105881872 + T3262 COSM4705881 c.817G>A p.G273R Substitution - Missense 2:105881918-105881918 + WSU-HN6 COSM4602060 c.28A>C p.K10Q Substitution - Missense 2:105855091-105855091 + TCGA-EE-A2A1-06 COSM3564686 c.855G>T p.W285C Substitution - Missense 2:105881956-105881956 + TCGA-A8-A09G-01 COSM440936 c.1023C>T p.V341V Substitution - coding silent 2:105893056-105893056 + NCI-H1437 COSM24422 c.265G>T p.D89Y Substitution - Missense CSCC-32-T COSM4502463 c.613C>T p.P205S Substitution - Missense 2:105881714-105881714 + RK080_C01 COSM1631232 c.868G>A p.V290M Substitution - Missense 2:105881969-105881969 + S02285 COSM5684683 c.723G>T p.R241R Substitution - coding silent 2:105881824-105881824 + LUAD-RT-S01777 COSM382161 c.116G>T p.W39L Substitution - Missense 2:105855179-105855179 + TCGA-BS-A0UV-01 COSM1004775 c.18T>G p.I6M Substitution - Missense 2:105855081-105855081 + CSCC-49-T COSM4514223 c.968C>A p.S323Y Substitution - Missense 2:105893001-105893001 + BCM265T COSM4949960 c.861C>A p.Y287* Substitution - Nonsense 2:105881962-105881962 + PT15_1 COSM5897382 c.824C>T p.S275L Substitution - Missense 2:105881925-105881925 + T3091 COSM4083972 c.796G>A p.A266T Substitution - Missense 2:105881897-105881897 + TCGA-EB-A3XC-01 COSM3564684 c.799C>G p.P267A Substitution - Missense 2:105881900-105881900 + TCGA-CD-A4MG-01 COSM4083958 c.176A>C p.K59T Substitution - Missense 2:105855239-105855239 + TCGA-D1-A103-01 COSM1004785 c.341T>A p.I114N Substitution - Missense 2:105881442-105881442 + TCGA-BR-7707-01 COSM4083972 c.796G>A p.A266T Substitution - Missense 2:105881897-105881897 + TCGA-DY-A1DG-01 COSM1564878 c.256G>A p.A86T Substitution - Missense 2:105881357-105881357 + TCGA-DY-A1DG-01 COSM1564879 c.256G>A p.A86T Substitution - Missense 2:105881357-105881357 + 61 COSM5736167 c.954C>T p.S318S Substitution - coding silent 2:105892987-105892987 + LUAD-B00416 COSM331244 c.919G>C p.D307H Substitution - Missense 2:105882020-105882020 + STC291 COSM5057964 c.166G>A p.V56M Substitution - Missense 2:105855229-105855229 + ESCC-219T COSM3938449 c.690C>T p.N230N Substitution - coding silent 2:105881791-105881791 + S01864 COSM5671700 c.804G>A p.Q268Q Substitution - coding silent 2:105881905-105881905 + DLD1 COSM1669193 c.771C>A p.D257E Substitution - Missense 2:105881872-105881872 + CSCC-49-T COSM4514222 c.968C>A p.S323Y Substitution - Missense 2:105893001-105893001 + LUAD-CHTN-MAD06-00668 COSM359493 c.809G>T p.S270I Substitution - Missense 2:105881910-105881910 + CSCC-32-T COSM4502464 c.613C>T p.P205S Substitution - Missense 2:105881714-105881714 + HCC174T COSM3708792 c.525G>A p.E175E Substitution - coding silent 2:105881626-105881626 + 88_T COSM3960915 c.600C>G p.V200V Substitution - coding silent 2:105881701-105881701 + 49M COSM5592066 c.135C>T p.A45A Substitution - coding silent 2:105855198-105855198 + TCGA-BS-A0UJ-01 COSM1004787 c.631G>A p.E211K Substitution - Missense 2:105881732-105881732 + TCGA-D1-A103-01 COSM1004786 c.341T>A p.I114N Substitution - Missense 2:105881442-105881442 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.529231;Hs.529244 2q12 604930 2436444|CGAP|BC000103|C/T|non-coding||1467|Validated; 2436444|CGAP|BC007195|C/T|non-coding||1474|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.1-19905A>G 2 106451615 CLL A G Missense p.I344V c.1030A>G 2 106509519 UCEC A G Synonymous p.P267P c.801A>G 2 106498358 HNSC A T Missense p.I6F c.16A>T 2 106471535 OV C G Missense p.C144W c.432C>G 2 106497989 STAD C G Missense p.F349L c.1047C>G 2 106509536 ESCA C G Missense p.S176C c.527C>G 2 106498084 LUAD C T Missense p.A295V c.884C>T 2 106498441 CM C T Missense p.P161L c.482C>T 2 106498039 CM C T Missense p.P248S c.742C>T 2 106498299 CM C T Missense p.R40W c.118C>T 2 106471637 UCEC C T Missense p.S131F c.392C>T 2 106497949 CM C T Missense p.S66F c.197C>T 2 106471716 CM C T Synonymous p.F117F c.351C>T 2 106497908 CM C T Synonymous p.F280F c.840C>T 2 106498397 HNSC C T Synonymous p.F349F c.1047C>T 2 106509536 CM C T Synonymous p.G306G c.918C>T 2 106498475 SCLC C T Synonymous p.T14T c.42C>T 2 106471561 CM C T Synonymous p.V140V c.420C>T 2 106497977 HNSC C T Synonymous p.Y251Y c.753C>T 2 106498310 STAD G A 5-UTRSNV . c.1-5G>A 2 106471515 CM G A Missense p.D107N c.319G>A 2 106497876 HNSC G A Missense p.D146N c.436G>A 2 106497993 HNSC G A Missense p.E171K c.511G>A 2 106498068 HNSC G A Missense p.R279H c.836G>A 2 106498393 UCEC G A Synonymous p.K79K c.237G>A 2 106497794 PRAD G A Synonymous p.L188L c.564G>A 2 106498121 HNSC G C Missense p.E226Q c.676G>C 2 106498233 LUSC G T Missense p.D12Y c.34G>T 2 106471553 BRCA G T Missense p.G219V c.656G>T 2 106498213 LUSC G T Missense p.W285C c.855G>T 2 106498412 CM G T Nonsense p.E305* c.913G>T 2 106498470 LUAD