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 11 35684687 35684687 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr11:35684687G>A c.28G>A c.(28-30)Gag>Aag p.E10K BRCA 11 35706850 35706850 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr11:35706850T>G c.713T>G c.(712-714)gTg>gGg p.V238G COAD 11 35684885 35684885 + Missense_Mutation SNP G G T TCGA-AA-A024-01A-02W-A00E-09 TCGA-AA-A024-10A-01W-A00E-09 g.chr11:35684885G>T c.226G>T c.(226-228)Gcg>Tcg p.A76S COAD 11 35685076 35685076 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr11:35685076C>T c.417C>T c.(415-417)agC>agT p.S139S COAD 11 35685113 35685113 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:35685113G>A c.454G>A c.(454-456)Gag>Aag p.E152K COAD 11 35685306 35685306 + Missense_Mutation SNP A A G TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr11:35685306A>G c.647A>G c.(646-648)gAc>gGc p.D216G COAD 11 35706843 35706843 + Missense_Mutation SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr11:35706843G>A c.706G>A c.(706-708)Gaa>Aaa p.E236K COAD 11 35747586 35747586 + Missense_Mutation SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr11:35747586G>A c.862G>A c.(862-864)Gcc>Acc p.A288T COAD 11 35747697 35747697 + Nonsense_Mutation SNP G G T TCGA-A6-2683-01A-01W-0831-10 TCGA-A6-2683-10A-01W-0831-10 g.chr11:35747697G>T c.973G>T c.(973-975)Gag>Tag p.E325* COAD 11 35756977 35756977 + Missense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr11:35756977G>A c.991G>A c.(991-993)Gat>Aat p.D331N COADREAD 11 35684885 35684885 + Missense_Mutation SNP G G T TCGA-AA-A024-01A-02W-A00E-09 TCGA-AA-A024-10A-01W-A00E-09 g.chr11:35684885G>T c.226G>T c.(226-228)Gcg>Tcg p.A76S COADREAD 11 35685076 35685076 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr11:35685076C>T c.417C>T c.(415-417)agC>agT p.S139S COADREAD 11 35685113 35685113 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:35685113G>A c.454G>A c.(454-456)Gag>Aag p.E152K COADREAD 11 35685306 35685306 + Missense_Mutation SNP A A G TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr11:35685306A>G c.647A>G c.(646-648)gAc>gGc p.D216G COADREAD 11 35706843 35706843 + Missense_Mutation SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr11:35706843G>A c.706G>A c.(706-708)Gaa>Aaa p.E236K COADREAD 11 35747586 35747586 + Missense_Mutation SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr11:35747586G>A c.862G>A c.(862-864)Gcc>Acc p.A288T COADREAD 11 35747697 35747697 + Nonsense_Mutation SNP G G T TCGA-A6-2683-01A-01W-0831-10 TCGA-A6-2683-10A-01W-0831-10 g.chr11:35747697G>T c.973G>T c.(973-975)Gag>Tag p.E325* COADREAD 11 35756977 35756977 + Missense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr11:35756977G>A c.991G>A c.(991-993)Gat>Aat p.D331N COADREAD 11 35756977 35756977 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr11:35756977G>A c.991G>A c.(991-993)Gat>Aat p.D331N GBM 11 35747531 35747531 + Silent SNP G G A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 g.chr11:35747531G>A c.807G>A c.(805-807)gtG>gtA p.V269V GBMLGG 11 35747531 35747531 + Silent SNP G G A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 g.chr11:35747531G>A c.807G>A c.(805-807)gtG>gtA p.V269V KIPAN 11 35684955 35684956 + Frame_Shift_Ins INS - - T TCGA-A4-A5Y1-01A-11D-A28G-10 TCGA-A4-A5Y1-11A-11D-A28G-10 g.chr11:35684955_35684956insT c.296_297insT c.(295-300)agtgagfs p.E100fs KIPAN 11 35685224 35685224 + Missense_Mutation SNP T T A TCGA-5P-A9KC-01A-11D-A42J-10 TCGA-5P-A9KC-10A-01D-A42M-10 g.chr11:35685224T>A c.565T>A c.(565-567)Tat>Aat p.Y189N KIRP 11 35684955 35684956 + Frame_Shift_Ins INS - - T TCGA-A4-A5Y1-01A-11D-A28G-10 TCGA-A4-A5Y1-11A-11D-A28G-10 g.chr11:35684955_35684956insT c.296_297insT c.(295-300)agtgagfs p.E100fs KIRP 11 35685224 35685224 + Missense_Mutation SNP T T A TCGA-5P-A9KC-01A-11D-A42J-10 TCGA-5P-A9KC-10A-01D-A42M-10 g.chr11:35685224T>A c.565T>A c.(565-567)Tat>Aat p.Y189N LUAD 11 35685179 35685179 + Missense_Mutation SNP G G T TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr11:35685179G>T c.520G>T c.(520-522)Gtg>Ttg p.V174L LUAD 11 35706848 35706848 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 g.chr11:35706848G>T c.711G>T c.(709-711)ttG>ttT p.L237F LUAD 11 35747573 35747573 + Missense_Mutation SNP C C G TCGA-17-Z053-01A-01W-0747-08 TCGA-17-Z053-11A-01W-0747-08 g.chr11:35747573C>G c.849C>G c.(847-849)atC>atG p.I283M LUAD 11 35747673 35747673 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr11:35747673C>G c.949C>G c.(949-951)Ctt>Gtt p.L317V LUAD 11 35827924 35827924 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr11:35827924G>A c.1024G>A c.(1024-1026)Gag>Aag p.E342K LUSC 11 35747495 35747495 + Missense_Mutation SNP G G A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr11:35747495G>A c.771G>A c.(769-771)atG>atA p.M257I OV 11 35685175 35685175 + Missense_Mutation SNP G G C TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 g.chr11:35685175G>C c.516G>C c.(514-516)gaG>gaC p.E172D READ 11 35756977 35756977 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr11:35756977G>A c.991G>A c.(991-993)Gat>Aat p.D331N SARC 11 35706846 35706846 + Silent SNP T T C TCGA-IE-A3OV-01A-11D-A228-09 TCGA-IE-A3OV-11A-22D-A22A-09 g.chr11:35706846T>C c.709T>C c.(709-711)Ttg>Ctg p.L237L SKCM 11 35685280 35685280 + Silent SNP C C T TCGA-EE-A2MH-06A-11D-A197-08 TCGA-EE-A2MH-10A-01D-A199-08 g.chr11:35685280C>T c.621C>T c.(619-621)caC>caT p.H207H SKCM 11 35685316 35685316 + Silent SNP T T C TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr11:35685316T>C c.657T>C c.(655-657)ttT>ttC p.F219F SKCM 11 35706842 35706842 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 g.chr11:35706842C>T c.705C>T c.(703-705)atC>atT p.I235I SKCM 11 35747489 35747489 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr11:35747489G>A c.765G>A c.(763-765)atG>atA p.M255I SKCM 11 35747577 35747577 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr11:35747577G>A c.853G>A c.(853-855)Gag>Aag p.E285K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 11 35684687 35684687 single base substitution G A missense_variant E10K 28G>A BOCA-FR 11 35783801 35783801 single base substitution T A intron_variant BRCA-EU 11 35679812 35679812 deletion of <=200bp A - upstream_gene_variant BRCA-EU 11 35680692 35680692 single base substitution A G upstream_gene_variant BRCA-EU 11 35680700 35680700 single base substitution G A upstream_gene_variant BRCA-EU 11 35681093 35681093 single base substitution C A upstream_gene_variant BRCA-EU 11 35681098 35681098 single base substitution G A upstream_gene_variant BRCA-EU 11 35681654 35681654 single base substitution G A upstream_gene_variant BRCA-EU 11 35681709 35681709 single base substitution G C upstream_gene_variant BRCA-EU 11 35682337 35682337 single base substitution C T upstream_gene_variant BRCA-EU 11 35682965 35682965 single base substitution T C upstream_gene_variant BRCA-EU 11 35683010 35683010 single base substitution C A upstream_gene_variant BRCA-EU 11 35683212 35683212 single base substitution T C upstream_gene_variant BRCA-EU 11 35684527 35684527 single base substitution G C 5_prime_UTR_variant BRCA-EU 11 35685327 35685327 single base substitution G T missense_variant R223I 668G>T BRCA-EU 11 35685768 35685768 single base substitution G T intron_variant BRCA-EU 11 35687106 35687106 single base substitution T C intron_variant BRCA-EU 11 35687979 35687979 single base substitution T G intron_variant BRCA-EU 11 35691046 35691046 single base substitution G A intron_variant BRCA-EU 11 35691111 35691111 single base substitution C T intron_variant BRCA-EU 11 35692104 35692104 single base substitution C T intron_variant BRCA-EU 11 35693170 35693170 single base substitution G C intron_variant BRCA-EU 11 35693758 35693758 single base substitution T C intron_variant BRCA-EU 11 35694740 35694740 single base substitution G C intron_variant BRCA-EU 11 35695251 35695251 single base substitution G A intron_variant BRCA-EU 11 35696446 35696446 single base substitution G A intron_variant BRCA-EU 11 35697814 35697814 single base substitution C G intron_variant BRCA-EU 11 35702004 35702004 single base substitution T A intron_variant BRCA-EU 11 35702477 35702477 deletion of <=200bp T - intron_variant BRCA-EU 11 35704184 35704184 single base substitution G T intron_variant BRCA-EU 11 35705436 35705436 single base substitution G C intron_variant BRCA-EU 11 35705895 35705895 single base substitution C T intron_variant BRCA-EU 11 35707182 35707182 single base substitution A T intron_variant BRCA-EU 11 35709207 35709207 single base substitution C G intron_variant BRCA-EU 11 35709816 35709816 single base substitution C T intron_variant BRCA-EU 11 35710709 35710709 single base substitution C T intron_variant BRCA-EU 11 35711608 35711608 single base substitution G T intron_variant BRCA-EU 11 35712129 35712129 single base substitution C A intron_variant BRCA-EU 11 35715337 35715337 single base substitution T A intron_variant BRCA-EU 11 35716402 35716402 single base substitution G C intron_variant BRCA-EU 11 35716608 35716613 deletion of <=200bp AGATGT - intron_variant BRCA-EU 11 35717500 35717500 single base substitution C G intron_variant BRCA-EU 11 35717898 35717898 single base substitution G T intron_variant BRCA-EU 11 35718692 35718692 single base substitution A C intron_variant BRCA-EU 11 35721492 35721492 single base substitution A T intron_variant BRCA-EU 11 35721981 35721981 single base substitution A C intron_variant BRCA-EU 11 35723555 35723555 insertion of <=200bp - T intron_variant BRCA-EU 11 35724602 35724602 single base substitution T G intron_variant BRCA-EU 11 35725543 35725543 single base substitution G C intron_variant BRCA-EU 11 35725853 35725853 single base substitution G T intron_variant BRCA-EU 11 35726940 35726940 single base substitution C G intron_variant BRCA-EU 11 35727767 35727767 single base substitution T C intron_variant BRCA-EU 11 35727807 35727807 single base substitution G A intron_variant BRCA-EU 11 35730230 35730230 single base substitution A T intron_variant BRCA-EU 11 35730995 35730995 single base substitution C A intron_variant BRCA-EU 11 35731463 35731463 single base substitution A T intron_variant BRCA-EU 11 35732581 35732581 single base substitution G A intron_variant BRCA-EU 11 35734003 35734003 single base substitution T A intron_variant BRCA-EU 11 35735718 35735718 single base substitution G C intron_variant BRCA-EU 11 35735911 35735911 single base substitution C T intron_variant BRCA-EU 11 35736038 35736038 single base substitution G C intron_variant BRCA-EU 11 35738285 35738285 single base substitution G C intron_variant BRCA-EU 11 35738939 35738939 deletion of <=200bp T - intron_variant BRCA-EU 11 35739604 35739604 single base substitution G A intron_variant BRCA-EU 11 35742052 35742052 single base substitution C G intron_variant BRCA-EU 11 35742052 35742052 single base substitution C G upstream_gene_variant BRCA-EU 11 35745770 35745770 single base substitution T A intron_variant BRCA-EU 11 35745770 35745770 single base substitution T A upstream_gene_variant BRCA-EU 11 35747517 35747517 single base substitution A G exon_variant BRCA-EU 11 35747517 35747517 single base substitution A G missense_variant K265E 793A>G BRCA-EU 11 35747972 35747972 single base substitution G A intron_variant BRCA-EU 11 35748349 35748349 single base substitution A T intron_variant BRCA-EU 11 35748382 35748382 single base substitution T G intron_variant BRCA-EU 11 35749498 35749498 single base substitution G T intron_variant BRCA-EU 11 35749499 35749499 single base substitution C A intron_variant BRCA-EU 11 35749672 35749672 single base substitution A G intron_variant BRCA-EU 11 35750890 35750890 single base substitution G A intron_variant BRCA-EU 11 35752735 35752735 single base substitution G C intron_variant BRCA-EU 11 35753019 35753019 single base substitution A C intron_variant BRCA-EU 11 35755034 35755034 single base substitution G C intron_variant BRCA-EU 11 35755795 35755795 single base substitution T C intron_variant BRCA-EU 11 35756494 35756494 single base substitution G C intron_variant BRCA-EU 11 35757066 35757066 single base substitution T C intron_variant BRCA-EU 11 35757894 35757894 single base substitution C T intron_variant BRCA-EU 11 35759222 35759222 single base substitution A C intron_variant BRCA-EU 11 35760470 35760470 single base substitution G A intron_variant BRCA-EU 11 35762172 35762172 single base substitution G C intron_variant BRCA-EU 11 35762480 35762480 deletion of <=200bp T - intron_variant BRCA-EU 11 35762805 35762805 single base substitution T C intron_variant BRCA-EU 11 35765188 35765190 deletion of <=200bp TTC - intron_variant BRCA-EU 11 35765370 35765370 single base substitution C G intron_variant BRCA-EU 11 35770357 35770357 single base substitution C T intron_variant BRCA-EU 11 35770629 35770629 single base substitution G C intron_variant BRCA-EU 11 35770923 35770923 single base substitution G C intron_variant BRCA-EU 11 35771687 35771687 single base substitution G C intron_variant BRCA-EU 11 35773087 35773087 single base substitution C T intron_variant BRCA-EU 11 35773350 35773355 deletion of <=200bp TTGACC - intron_variant BRCA-EU 11 35775034 35775034 single base substitution A C intron_variant BRCA-EU 11 35775314 35775314 single base substitution C T intron_variant BRCA-EU 11 35776241 35776241 single base substitution C G intron_variant BRCA-EU 11 35780799 35780799 single base substitution G C intron_variant BRCA-EU 11 35781120 35781120 single base substitution C T intron_variant BRCA-EU 11 35784102 35784102 single base substitution C T intron_variant BRCA-EU 11 35784252 35784252 single base substitution C T intron_variant BRCA-EU 11 35784582 35784582 single base substitution C T intron_variant BRCA-EU 11 35785148 35785148 single base substitution C G intron_variant BRCA-EU 11 35785357 35785357 single base substitution G C intron_variant BRCA-EU 11 35786476 35786476 single base substitution A T intron_variant BRCA-EU 11 35786678 35786678 single base substitution G C intron_variant BRCA-EU 11 35787571 35787571 single base substitution G A intron_variant BRCA-EU 11 35787887 35787887 single base substitution T A intron_variant BRCA-EU 11 35789142 35789142 deletion of <=200bp A - intron_variant BRCA-EU 11 35790691 35790691 single base substitution G A intron_variant BRCA-EU 11 35791051 35791051 single base substitution C T intron_variant BRCA-EU 11 35791318 35791318 single base substitution G C intron_variant BRCA-EU 11 35791467 35791467 single base substitution C A intron_variant BRCA-EU 11 35791511 35791511 single base substitution T G intron_variant BRCA-EU 11 35792391 35792391 single base substitution G A intron_variant BRCA-EU 11 35792778 35792778 single base substitution G A intron_variant BRCA-EU 11 35795111 35795111 single base substitution G A intron_variant BRCA-EU 11 35795141 35795141 single base substitution G C intron_variant BRCA-EU 11 35796632 35796632 single base substitution G A intron_variant BRCA-EU 11 35796921 35796921 single base substitution G A intron_variant BRCA-EU 11 35797877 35797877 insertion of <=200bp - T intron_variant BRCA-EU 11 35797997 35797997 single base substitution C G intron_variant BRCA-EU 11 35798741 35798741 single base substitution C G intron_variant BRCA-EU 11 35799756 35799756 single base substitution C T intron_variant BRCA-EU 11 35801919 35801919 single base substitution C G intron_variant BRCA-EU 11 35802883 35802883 single base substitution C G intron_variant BRCA-EU 11 35804377 35804377 single base substitution G A intron_variant BRCA-EU 11 35804502 35804502 single base substitution G C intron_variant BRCA-EU 11 35804921 35804921 single base substitution G A intron_variant BRCA-EU 11 35806492 35806492 single base substitution A G intron_variant BRCA-EU 11 35807408 35807408 single base substitution G C intron_variant BRCA-EU 11 35810374 35810374 single base substitution G A intron_variant BRCA-EU 11 35810919 35810919 single base substitution C T intron_variant BRCA-EU 11 35811623 35811623 single base substitution C T intron_variant BRCA-EU 11 35812860 35812860 insertion of <=200bp - T intron_variant BRCA-EU 11 35813202 35813202 single base substitution G C intron_variant BRCA-EU 11 35815284 35815284 single base substitution C A intron_variant BRCA-EU 11 35815756 35815756 single base substitution G A intron_variant BRCA-EU 11 35816134 35816134 single base substitution G C intron_variant BRCA-EU 11 35817245 35817245 deletion of <=200bp T - intron_variant BRCA-EU 11 35817245 35817245 insertion of <=200bp - T intron_variant BRCA-EU 11 35821228 35821228 single base substitution C G intron_variant BRCA-EU 11 35822751 35822751 single base substitution G A intron_variant BRCA-EU 11 35823162 35823162 single base substitution A G intron_variant BRCA-EU 11 35823897 35823897 single base substitution C G intron_variant BRCA-EU 11 35824870 35824870 single base substitution C T intron_variant BRCA-EU 11 35825967 35825967 single base substitution G C intron_variant BRCA-EU 11 35828620 35828620 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 11 35828620 35828620 deletion of <=200bp A - downstream_gene_variant BRCA-EU 11 35831315 35831315 single base substitution G C downstream_gene_variant BRCA-EU 11 35831432 35831433 deletion of <=200bp CG - downstream_gene_variant BRCA-EU 11 35832438 35832438 single base substitution G A downstream_gene_variant BRCA-EU 11 35832966 35832966 single base substitution A T downstream_gene_variant BRCA-EU 11 35832986 35832986 deletion of <=200bp A - downstream_gene_variant BRCA-EU 11 35832986 35832986 insertion of <=200bp - A downstream_gene_variant BRCA-FR 11 35690610 35690610 single base substitution C G intron_variant BRCA-FR 11 35705895 35705895 single base substitution C T intron_variant BRCA-FR 11 35707116 35707116 single base substitution G A intron_variant BRCA-FR 11 35713359 35713359 single base substitution A T intron_variant BRCA-FR 11 35732581 35732581 single base substitution G A intron_variant BRCA-FR 11 35749022 35749022 single base substitution G C intron_variant BRCA-FR 11 35750890 35750890 single base substitution G A intron_variant BRCA-FR 11 35760470 35760470 single base substitution G A intron_variant BRCA-FR 11 35773087 35773087 single base substitution C T intron_variant BRCA-FR 11 35778135 35778135 single base substitution T C intron_variant BRCA-FR 11 35785148 35785148 single base substitution C G intron_variant BRCA-FR 11 35795946 35795946 single base substitution A G intron_variant BRCA-FR 11 35815756 35815756 single base substitution G A intron_variant BRCA-FR 11 35832438 35832438 single base substitution G A downstream_gene_variant BRCA-UK 11 35682222 35682222 single base substitution C T upstream_gene_variant BRCA-UK 11 35724602 35724602 single base substitution T G intron_variant BRCA-UK 11 35728359 35728359 single base substitution G A intron_variant BRCA-UK 11 35739237 35739237 single base substitution C G intron_variant BRCA-UK 11 35762172 35762172 single base substitution G C intron_variant BRCA-UK 11 35765188 35765190 deletion of <=200bp TTC - intron_variant BRCA-UK 11 35805764 35805764 single base substitution G C intron_variant BRCA-UK 11 35825967 35825967 single base substitution G C intron_variant BRCA-US 11 35706850 35706850 single base substitution T G missense_variant V238G 713T>G CLLE-ES 11 35689678 35689678 single base substitution G C intron_variant CLLE-ES 11 35721304 35721304 single base substitution C T intron_variant CLLE-ES 11 35726923 35726923 single base substitution T C intron_variant CLLE-ES 11 35726959 35726959 single base substitution C G intron_variant CLLE-ES 11 35747803 35747803 single base substitution A G intron_variant CLLE-ES 11 35749791 35749791 single base substitution T C intron_variant CLLE-ES 11 35752661 35752661 single base substitution C A intron_variant CLLE-ES 11 35781483 35781483 single base substitution C T intron_variant CLLE-ES 11 35783670 35783670 single base substitution C T intron_variant CLLE-ES 11 35804774 35804774 single base substitution G A intron_variant CLLE-ES 11 35823851 35823851 single base substitution A C intron_variant COAD-US 11 35685113 35685113 single base substitution G A missense_variant E152K 454G>A COCA-CN 11 35685121 35685121 single base substitution G A synonymous_variant E154E 462G>A COCA-CN 11 35700951 35700951 single base substitution A T intron_variant COCA-CN 11 35713171 35713171 single base substitution T A intron_variant COCA-CN 11 35713174 35713174 single base substitution A T intron_variant COCA-CN 11 35728154 35728154 single base substitution A C intron_variant COCA-CN 11 35731012 35731012 single base substitution T C intron_variant COCA-CN 11 35741970 35741970 single base substitution T C intron_variant COCA-CN 11 35741970 35741970 single base substitution T C upstream_gene_variant COCA-CN 11 35748632 35748632 single base substitution G A intron_variant COCA-CN 11 35755114 35755114 single base substitution A G intron_variant COCA-CN 11 35755618 35755618 single base substitution A T intron_variant COCA-CN 11 35756838 35756838 single base substitution C G intron_variant COCA-CN 11 35766269 35766269 single base substitution C T intron_variant COCA-CN 11 35776712 35776712 single base substitution C A intron_variant COCA-CN 11 35827765 35827765 single base substitution C T intron_variant EOPC-DE 11 35766120 35766120 single base substitution G A intron_variant ESAD-UK 11 35680724 35680724 single base substitution T A upstream_gene_variant ESAD-UK 11 35682011 35682011 single base substitution C T upstream_gene_variant ESAD-UK 11 35682595 35682595 single base substitution T G upstream_gene_variant ESAD-UK 11 35682996 35682996 insertion of <=200bp - T upstream_gene_variant ESAD-UK 11 35683018 35683018 single base substitution C T upstream_gene_variant ESAD-UK 11 35683589 35683589 single base substitution T A upstream_gene_variant ESAD-UK 11 35685349 35685349 single base substitution G A intron_variant ESAD-UK 11 35694585 35694585 single base substitution C T intron_variant ESAD-UK 11 35694851 35694851 single base substitution G C intron_variant ESAD-UK 11 35695810 35695810 single base substitution G A intron_variant ESAD-UK 11 35695980 35695980 single base substitution T C intron_variant ESAD-UK 11 35697014 35697014 single base substitution T A intron_variant ESAD-UK 11 35697155 35697155 single base substitution C T intron_variant ESAD-UK 11 35697744 35697744 single base substitution A G intron_variant ESAD-UK 11 35699613 35699613 single base substitution G T intron_variant ESAD-UK 11 35700950 35700950 single base substitution C T intron_variant ESAD-UK 11 35702004 35702004 single base substitution T A intron_variant ESAD-UK 11 35706457 35706457 single base substitution A G intron_variant ESAD-UK 11 35707361 35707361 single base substitution G A intron_variant ESAD-UK 11 35707928 35707928 single base substitution T G intron_variant ESAD-UK 11 35708989 35708989 single base substitution T C intron_variant ESAD-UK 11 35709758 35709758 single base substitution G A intron_variant ESAD-UK 11 35713004 35713004 single base substitution C T intron_variant ESAD-UK 11 35713287 35713287 single base substitution G A intron_variant ESAD-UK 11 35713288 35713288 single base substitution G C intron_variant ESAD-UK 11 35714761 35714761 single base substitution A C intron_variant ESAD-UK 11 35715924 35715924 single base substitution T C intron_variant ESAD-UK 11 35716088 35716088 single base substitution A C intron_variant ESAD-UK 11 35716764 35716764 single base substitution G A intron_variant ESAD-UK 11 35718081 35718081 single base substitution C T intron_variant ESAD-UK 11 35719546 35719546 single base substitution T C intron_variant ESAD-UK 11 35724928 35724928 single base substitution C G intron_variant ESAD-UK 11 35730541 35730541 single base substitution A C intron_variant ESAD-UK 11 35731095 35731095 single base substitution A G intron_variant ESAD-UK 11 35733304 35733304 insertion of <=200bp - A intron_variant ESAD-UK 11 35738121 35738121 single base substitution T G intron_variant ESAD-UK 11 35739387 35739387 single base substitution T A intron_variant ESAD-UK 11 35740418 35740418 single base substitution C T intron_variant ESAD-UK 11 35740506 35740506 single base substitution C T intron_variant ESAD-UK 11 35743625 35743625 insertion of <=200bp - G intron_variant ESAD-UK 11 35743625 35743625 insertion of <=200bp - G upstream_gene_variant ESAD-UK 11 35745428 35745428 single base substitution T G intron_variant ESAD-UK 11 35745428 35745428 single base substitution T G upstream_gene_variant ESAD-UK 11 35749530 35749530 single base substitution G A intron_variant ESAD-UK 11 35750066 35750066 single base substitution T G intron_variant ESAD-UK 11 35750363 35750363 single base substitution C T intron_variant ESAD-UK 11 35750566 35750566 deletion of <=200bp A - intron_variant ESAD-UK 11 35753416 35753416 single base substitution T A intron_variant ESAD-UK 11 35759546 35759546 single base substitution C T intron_variant ESAD-UK 11 35759648 35759648 single base substitution T C intron_variant ESAD-UK 11 35760358 35760358 single base substitution G A intron_variant ESAD-UK 11 35760678 35760678 single base substitution T C intron_variant ESAD-UK 11 35762480 35762480 deletion of <=200bp T - intron_variant ESAD-UK 11 35763028 35763028 single base substitution C T intron_variant ESAD-UK 11 35763358 35763358 single base substitution T C intron_variant ESAD-UK 11 35770951 35770951 single base substitution G A intron_variant ESAD-UK 11 35771137 35771137 single base substitution G A intron_variant ESAD-UK 11 35774309 35774309 single base substitution C G intron_variant ESAD-UK 11 35775379 35775379 single base substitution C T intron_variant ESAD-UK 11 35775419 35775419 single base substitution G T intron_variant ESAD-UK 11 35776058 35776058 deletion of <=200bp T - intron_variant ESAD-UK 11 35778738 35778738 single base substitution G A intron_variant ESAD-UK 11 35778901 35778901 single base substitution C A intron_variant ESAD-UK 11 35782620 35782620 single base substitution C G intron_variant ESAD-UK 11 35782887 35782887 single base substitution A G intron_variant ESAD-UK 11 35782950 35782950 insertion of <=200bp - TA intron_variant ESAD-UK 11 35782952 35782952 insertion of <=200bp - TA intron_variant ESAD-UK 11 35786476 35786476 single base substitution A T intron_variant ESAD-UK 11 35787125 35787125 single base substitution G A intron_variant ESAD-UK 11 35787273 35787273 single base substitution G A intron_variant ESAD-UK 11 35787588 35787588 single base substitution G C intron_variant ESAD-UK 11 35789202 35789202 single base substitution G A intron_variant ESAD-UK 11 35789286 35789286 deletion of <=200bp T - intron_variant ESAD-UK 11 35789699 35789699 single base substitution T C intron_variant ESAD-UK 11 35789708 35789708 single base substitution G C intron_variant ESAD-UK 11 35792723 35792723 single base substitution A T intron_variant ESAD-UK 11 35793636 35793636 single base substitution G A intron_variant ESAD-UK 11 35800221 35800221 single base substitution T C intron_variant ESAD-UK 11 35800593 35800593 single base substitution G T intron_variant ESAD-UK 11 35800947 35800947 single base substitution T C intron_variant ESAD-UK 11 35801075 35801075 single base substitution C G intron_variant ESAD-UK 11 35801416 35801416 single base substitution T A intron_variant ESAD-UK 11 35804005 35804005 single base substitution G T intron_variant ESAD-UK 11 35804715 35804715 single base substitution C A intron_variant ESAD-UK 11 35807857 35807857 single base substitution C A intron_variant ESAD-UK 11 35810460 35810460 single base substitution C A intron_variant ESAD-UK 11 35810615 35810615 single base substitution T A intron_variant ESAD-UK 11 35810991 35810991 single base substitution A G intron_variant ESAD-UK 11 35815397 35815397 single base substitution A G intron_variant ESAD-UK 11 35816325 35816325 single base substitution G A intron_variant ESAD-UK 11 35816374 35816374 single base substitution C T intron_variant ESAD-UK 11 35818984 35818984 single base substitution C A intron_variant ESAD-UK 11 35819662 35819662 single base substitution C A intron_variant ESAD-UK 11 35824296 35824296 single base substitution A G intron_variant ESAD-UK 11 35827438 35827438 deletion of <=200bp T - intron_variant ESAD-UK 11 35827539 35827539 insertion of <=200bp - CATA intron_variant ESAD-UK 11 35829110 35829110 single base substitution C T 3_prime_UTR_variant ESAD-UK 11 35829110 35829110 single base substitution C T downstream_gene_variant ESAD-UK 11 35831256 35831256 single base substitution A T downstream_gene_variant GBM-US 11 35747531 35747531 single base substitution G A exon_variant GBM-US 11 35747531 35747531 single base substitution G A synonymous_variant V269V 807G>A KIRP-US 11 35684955 35684955 insertion of <=200bp - T frameshift_variant S99M? LAML-KR 11 35775595 35775595 single base substitution T A intron_variant LAML-KR 11 35777315 35777315 single base substitution T C intron_variant LAML-KR 11 35777485 35777485 single base substitution G A intron_variant LAML-KR 11 35804055 35804055 single base substitution G A intron_variant LICA-FR 11 35683888 35683888 single base substitution C A upstream_gene_variant LICA-FR 11 35727414 35727414 single base substitution A G intron_variant LICA-FR 11 35734529 35734529 single base substitution A G intron_variant LICA-FR 11 35735051 35735051 insertion of <=200bp - T intron_variant LICA-FR 11 35736953 35736953 insertion of <=200bp - TG intron_variant LICA-FR 11 35760471 35760471 single base substitution A G intron_variant LICA-FR 11 35760480 35760480 single base substitution A C intron_variant LICA-FR 11 35768538 35768538 single base substitution G A intron_variant LICA-FR 11 35789322 35789322 single base substitution C A intron_variant LIHC-US 11 35684743 35684743 single base substitution G T synonymous_variant G28G 84G>T LINC-JP 11 35706346 35706346 single base substitution A G intron_variant LINC-JP 11 35739083 35739083 single base substitution A T intron_variant LINC-JP 11 35744631 35744631 single base substitution G A intron_variant LINC-JP 11 35744631 35744631 single base substitution G A upstream_gene_variant LINC-JP 11 35744745 35744745 single base substitution A T intron_variant LINC-JP 11 35744745 35744745 single base substitution A T upstream_gene_variant LINC-JP 11 35748664 35748664 single base substitution C G intron_variant LINC-JP 11 35778198 35778198 single base substitution G T intron_variant LINC-JP 11 35783501 35783501 single base substitution C T intron_variant LINC-JP 11 35796518 35796518 single base substitution A G intron_variant LINC-JP 11 35797386 35797386 single base substitution A G intron_variant LINC-JP 11 35819436 35819436 single base substitution A G intron_variant LIRI-JP 11 35679663 35679663 single base substitution C A upstream_gene_variant LIRI-JP 11 35680509 35680509 single base substitution C T upstream_gene_variant LIRI-JP 11 35683912 35683921 deletion of <=200bp CATAGCCCTT - upstream_gene_variant LIRI-JP 11 35685552 35685552 single base substitution A G intron_variant LIRI-JP 11 35685931 35685931 single base substitution C T intron_variant LIRI-JP 11 35686216 35686216 single base substitution A G intron_variant LIRI-JP 11 35687252 35687252 single base substitution C T intron_variant LIRI-JP 11 35691301 35691301 single base substitution A G intron_variant LIRI-JP 11 35691922 35691922 single base substitution G A intron_variant LIRI-JP 11 35692852 35692852 single base substitution G A intron_variant LIRI-JP 11 35692998 35692998 single base substitution C T intron_variant LIRI-JP 11 35694059 35694059 single base substitution G C intron_variant LIRI-JP 11 35695135 35695135 single base substitution G A intron_variant LIRI-JP 11 35696273 35696273 single base substitution A G intron_variant LIRI-JP 11 35696802 35696802 deletion of <=200bp T - intron_variant LIRI-JP 11 35698951 35698951 single base substitution A G intron_variant LIRI-JP 11 35703434 35703434 single base substitution T C intron_variant LIRI-JP 11 35704575 35704575 single base substitution T G intron_variant LIRI-JP 11 35706232 35706232 deletion of <=200bp G - intron_variant LIRI-JP 11 35706691 35706691 single base substitution C T intron_variant LIRI-JP 11 35707766 35707766 single base substitution G A intron_variant LIRI-JP 11 35709147 35709147 single base substitution A G intron_variant LIRI-JP 11 35709700 35709700 single base substitution A T intron_variant LIRI-JP 11 35709802 35709802 single base substitution T G intron_variant LIRI-JP 11 35714341 35714341 single base substitution G T intron_variant LIRI-JP 11 35714504 35714504 single base substitution G A intron_variant LIRI-JP 11 35714562 35714562 single base substitution C G intron_variant LIRI-JP 11 35717502 35717502 single base substitution C G intron_variant LIRI-JP 11 35724801 35724801 single base substitution G A intron_variant LIRI-JP 11 35727457 35727457 single base substitution A G intron_variant LIRI-JP 11 35731901 35731901 single base substitution T G intron_variant LIRI-JP 11 35732005 35732005 single base substitution T C intron_variant LIRI-JP 11 35735352 35735352 single base substitution A C intron_variant LIRI-JP 11 35735734 35735734 single base substitution C A intron_variant LIRI-JP 11 35735736 35735736 single base substitution A T intron_variant LIRI-JP 11 35738293 35738293 single base substitution A T intron_variant LIRI-JP 11 35747519 35747519 single base substitution A T exon_variant LIRI-JP 11 35747519 35747519 single base substitution A T missense_variant K265N 795A>T LIRI-JP 11 35750237 35750237 single base substitution A G intron_variant LIRI-JP 11 35750556 35750556 single base substitution A G intron_variant LIRI-JP 11 35750661 35750661 single base substitution A G intron_variant LIRI-JP 11 35750865 35750865 single base substitution A T intron_variant LIRI-JP 11 35752947 35752947 single base substitution A G intron_variant LIRI-JP 11 35753793 35753793 single base substitution T G intron_variant LIRI-JP 11 35756065 35756065 single base substitution C G intron_variant LIRI-JP 11 35756382 35756382 single base substitution C G intron_variant LIRI-JP 11 35756389 35756389 single base substitution C G intron_variant LIRI-JP 11 35758430 35758430 single base substitution A G intron_variant LIRI-JP 11 35758477 35758477 single base substitution T C intron_variant LIRI-JP 11 35758605 35758605 single base substitution G A intron_variant LIRI-JP 11 35759470 35759470 single base substitution C A intron_variant LIRI-JP 11 35759855 35759855 single base substitution T G intron_variant LIRI-JP 11 35760034 35760034 single base substitution A T intron_variant LIRI-JP 11 35760561 35760561 single base substitution A C intron_variant LIRI-JP 11 35761042 35761042 single base substitution C T intron_variant LIRI-JP 11 35761610 35761610 single base substitution G A intron_variant LIRI-JP 11 35762255 35762255 single base substitution A G intron_variant LIRI-JP 11 35762465 35762465 single base substitution C T intron_variant LIRI-JP 11 35764656 35764656 single base substitution C T intron_variant LIRI-JP 11 35767812 35767812 single base substitution A G intron_variant LIRI-JP 11 35768974 35768974 single base substitution T A intron_variant LIRI-JP 11 35769348 35769348 single base substitution G A intron_variant LIRI-JP 11 35770338 35770338 single base substitution C T intron_variant LIRI-JP 11 35770962 35770962 single base substitution A G intron_variant LIRI-JP 11 35771159 35771159 single base substitution G C intron_variant LIRI-JP 11 35773143 35773143 single base substitution C T intron_variant LIRI-JP 11 35773193 35773193 single base substitution G T intron_variant LIRI-JP 11 35773612 35773612 single base substitution C T intron_variant LIRI-JP 11 35773719 35773719 single base substitution A G intron_variant LIRI-JP 11 35773842 35773842 single base substitution T C intron_variant LIRI-JP 11 35774574 35774574 single base substitution A G intron_variant LIRI-JP 11 35775674 35775674 single base substitution T C intron_variant LIRI-JP 11 35778391 35778391 single base substitution C G intron_variant LIRI-JP 11 35780138 35780138 single base substitution A T intron_variant LIRI-JP 11 35781506 35781506 single base substitution G A intron_variant LIRI-JP 11 35781782 35781782 single base substitution G A intron_variant LIRI-JP 11 35783606 35783606 single base substitution C A intron_variant LIRI-JP 11 35784250 35784250 single base substitution A G intron_variant LIRI-JP 11 35792994 35792994 single base substitution G C intron_variant LIRI-JP 11 35793996 35793996 single base substitution C T intron_variant LIRI-JP 11 35795882 35795882 single base substitution A C intron_variant LIRI-JP 11 35797740 35797740 single base substitution G T intron_variant LIRI-JP 11 35797741 35797741 single base substitution G T intron_variant LIRI-JP 11 35799930 35799930 single base substitution T C intron_variant LIRI-JP 11 35801377 35801377 single base substitution A C intron_variant LIRI-JP 11 35802689 35802689 single base substitution A G intron_variant LIRI-JP 11 35805874 35805874 single base substitution G A intron_variant LIRI-JP 11 35805884 35805884 single base substitution A G intron_variant LIRI-JP 11 35807982 35807982 single base substitution A G intron_variant LIRI-JP 11 35809443 35809443 single base substitution C G intron_variant LIRI-JP 11 35809604 35809604 single base substitution C T intron_variant LIRI-JP 11 35810333 35810333 single base substitution A G intron_variant LIRI-JP 11 35810859 35810859 single base substitution A G intron_variant LIRI-JP 11 35811200 35811200 single base substitution G T intron_variant LIRI-JP 11 35811739 35811739 single base substitution T C intron_variant LIRI-JP 11 35812080 35812080 single base substitution G A intron_variant LIRI-JP 11 35814042 35814042 single base substitution A G intron_variant LIRI-JP 11 35814718 35814718 deletion of <=200bp G - intron_variant LIRI-JP 11 35816724 35816724 single base substitution A G intron_variant LIRI-JP 11 35817095 35817095 single base substitution A T intron_variant LIRI-JP 11 35819414 35819414 single base substitution A G intron_variant LIRI-JP 11 35820940 35820940 single base substitution A T intron_variant LIRI-JP 11 35821240 35821240 single base substitution C G intron_variant LIRI-JP 11 35822645 35822645 single base substitution G A intron_variant LIRI-JP 11 35822813 35822813 single base substitution A G intron_variant LIRI-JP 11 35823450 35823450 single base substitution G A intron_variant LIRI-JP 11 35823482 35823482 single base substitution T A intron_variant LIRI-JP 11 35824911 35824911 single base substitution A T intron_variant LIRI-JP 11 35826483 35826483 single base substitution T G intron_variant LIRI-JP 11 35826639 35826639 single base substitution C A intron_variant LIRI-JP 11 35833201 35833201 single base substitution G A downstream_gene_variant LIRI-JP 11 35834067 35834067 single base substitution A C downstream_gene_variant LUSC-KR 11 35679849 35679849 single base substitution C A upstream_gene_variant LUSC-KR 11 35680322 35680322 single base substitution A G upstream_gene_variant LUSC-KR 11 35685571 35685571 single base substitution A T intron_variant LUSC-KR 11 35692364 35692364 single base substitution G A intron_variant LUSC-KR 11 35697711 35697711 single base substitution C G intron_variant LUSC-KR 11 35702064 35702064 single base substitution A G intron_variant LUSC-KR 11 35703043 35703043 single base substitution G T intron_variant LUSC-KR 11 35704794 35704794 single base substitution G A intron_variant LUSC-KR 11 35708868 35708868 single base substitution C G intron_variant LUSC-KR 11 35714980 35714980 single base substitution A C intron_variant LUSC-KR 11 35717627 35717627 single base substitution A G intron_variant LUSC-KR 11 35721631 35721631 single base substitution G T intron_variant LUSC-KR 11 35722199 35722199 single base substitution G T intron_variant LUSC-KR 11 35723873 35723873 single base substitution G T intron_variant LUSC-KR 11 35726921 35726921 single base substitution G C intron_variant LUSC-KR 11 35731398 35731398 single base substitution A G intron_variant LUSC-KR 11 35731439 35731439 single base substitution A T intron_variant LUSC-KR 11 35737987 35737987 single base substitution C G intron_variant LUSC-KR 11 35738773 35738773 single base substitution C T intron_variant LUSC-KR 11 35738937 35738937 single base substitution A C intron_variant LUSC-KR 11 35740234 35740234 single base substitution C T intron_variant LUSC-KR 11 35741682 35741682 single base substitution G A intron_variant LUSC-KR 11 35741682 35741682 single base substitution G A upstream_gene_variant LUSC-KR 11 35743760 35743760 single base substitution G T intron_variant LUSC-KR 11 35743760 35743760 single base substitution G T upstream_gene_variant LUSC-KR 11 35744929 35744929 single base substitution A G intron_variant LUSC-KR 11 35744929 35744929 single base substitution A G upstream_gene_variant LUSC-KR 11 35746367 35746367 single base substitution C G intron_variant LUSC-KR 11 35747209 35747209 single base substitution G C intron_variant LUSC-KR 11 35761830 35761830 single base substitution G A intron_variant LUSC-KR 11 35765814 35765814 single base substitution G C intron_variant LUSC-KR 11 35767312 35767312 single base substitution C G intron_variant LUSC-KR 11 35768638 35768638 single base substitution G C intron_variant LUSC-KR 11 35769615 35769615 single base substitution G T intron_variant LUSC-KR 11 35777315 35777315 single base substitution T C intron_variant LUSC-KR 11 35777337 35777337 single base substitution A T intron_variant LUSC-KR 11 35777485 35777485 single base substitution G A intron_variant LUSC-KR 11 35784126 35784126 single base substitution C T intron_variant LUSC-KR 11 35788641 35788641 single base substitution A G intron_variant LUSC-KR 11 35791876 35791876 single base substitution T A intron_variant LUSC-KR 11 35792901 35792901 single base substitution G A intron_variant LUSC-KR 11 35798699 35798699 single base substitution G T intron_variant LUSC-KR 11 35799691 35799691 single base substitution G T intron_variant LUSC-KR 11 35811547 35811547 single base substitution G C intron_variant LUSC-KR 11 35811737 35811737 single base substitution C G intron_variant LUSC-KR 11 35815362 35815362 single base substitution G C intron_variant LUSC-KR 11 35817800 35817800 single base substitution G T intron_variant LUSC-KR 11 35820498 35820498 single base substitution G T intron_variant LUSC-KR 11 35821296 35821296 single base substitution G C intron_variant LUSC-KR 11 35829478 35829478 single base substitution G A 3_prime_UTR_variant LUSC-KR 11 35829478 35829478 single base substitution G A downstream_gene_variant LUSC-KR 11 35830043 35830043 single base substitution A G downstream_gene_variant LUSC-US 11 35747495 35747495 single base substitution G A exon_variant LUSC-US 11 35747495 35747495 single base substitution G A missense_variant M257I 771G>A MALY-DE 11 35679812 35679812 insertion of <=200bp - A upstream_gene_variant MALY-DE 11 35688862 35688862 single base substitution C G intron_variant MALY-DE 11 35701496 35701497 deletion of <=200bp TC - intron_variant MALY-DE 11 35703941 35703941 single base substitution G A intron_variant MALY-DE 11 35723575 35723575 single base substitution T G intron_variant MALY-DE 11 35734426 35734426 single base substitution T C intron_variant MALY-DE 11 35736953 35736954 deletion of <=200bp TG - intron_variant MALY-DE 11 35743445 35743445 single base substitution C A intron_variant MALY-DE 11 35743445 35743445 single base substitution C A upstream_gene_variant MALY-DE 11 35744266 35744266 single base substitution A G intron_variant MALY-DE 11 35744266 35744266 single base substitution A G upstream_gene_variant MALY-DE 11 35744796 35744796 single base substitution T C intron_variant MALY-DE 11 35744796 35744796 single base substitution T C upstream_gene_variant MALY-DE 11 35748886 35748886 single base substitution A C intron_variant MALY-DE 11 35759214 35759214 single base substitution T C intron_variant MALY-DE 11 35763917 35763917 insertion of <=200bp - AT intron_variant MALY-DE 11 35763917 35763918 deletion of <=200bp AT - intron_variant MALY-DE 11 35767200 35767200 single base substitution A G intron_variant MALY-DE 11 35770271 35770271 single base substitution G A intron_variant MALY-DE 11 35770591 35770592 deletion of <=200bp AG - intron_variant MALY-DE 11 35772820 35772820 single base substitution C T intron_variant MALY-DE 11 35773893 35773893 single base substitution C T intron_variant MALY-DE 11 35774068 35774068 single base substitution A G intron_variant MALY-DE 11 35780186 35780186 insertion of <=200bp - CAT intron_variant MALY-DE 11 35783687 35783687 single base substitution G A intron_variant MALY-DE 11 35785571 35785571 single base substitution T C intron_variant MALY-DE 11 35794908 35794908 single base substitution A C intron_variant MALY-DE 11 35801144 35801144 single base substitution C T intron_variant MALY-DE 11 35801681 35801681 single base substitution A T intron_variant MALY-DE 11 35807427 35807427 single base substitution T G intron_variant MALY-DE 11 35808646 35808646 single base substitution T A intron_variant MALY-DE 11 35809786 35809786 single base substitution T G intron_variant MALY-DE 11 35815785 35815785 single base substitution G A intron_variant MALY-DE 11 35820517 35820517 single base substitution A G intron_variant MALY-DE 11 35821853 35821853 single base substitution G A intron_variant MALY-DE 11 35824831 35824831 single base substitution A G intron_variant MELA-AU 11 35679353 35679353 single base substitution C T upstream_gene_variant MELA-AU 11 35679359 35679359 single base substitution C T upstream_gene_variant MELA-AU 11 35679387 35679387 single base substitution C T upstream_gene_variant MELA-AU 11 35679482 35679482 single base substitution G A upstream_gene_variant MELA-AU 11 35679543 35679543 single base substitution G A upstream_gene_variant MELA-AU 11 35679581 35679581 single base substitution G A upstream_gene_variant MELA-AU 11 35679802 35679802 single base substitution G A upstream_gene_variant MELA-AU 11 35679825 35679825 single base substitution G A upstream_gene_variant MELA-AU 11 35679961 35679961 single base substitution C G upstream_gene_variant MELA-AU 11 35679971 35679971 single base substitution C T upstream_gene_variant MELA-AU 11 35680258 35680258 single base substitution G A upstream_gene_variant MELA-AU 11 35680512 35680512 single base substitution C T upstream_gene_variant MELA-AU 11 35680815 35680815 single base substitution G A upstream_gene_variant MELA-AU 11 35681044 35681044 single base substitution G A upstream_gene_variant MELA-AU 11 35681121 35681121 single base substitution C T upstream_gene_variant MELA-AU 11 35681713 35681713 single base substitution C T upstream_gene_variant MELA-AU 11 35681846 35681846 single base substitution C T upstream_gene_variant MELA-AU 11 35681907 35681907 single base substitution G A upstream_gene_variant MELA-AU 11 35681932 35681932 single base substitution C T upstream_gene_variant MELA-AU 11 35681963 35681963 single base substitution C T upstream_gene_variant MELA-AU 11 35682003 35682003 single base substitution C T upstream_gene_variant MELA-AU 11 35682533 35682533 single base substitution G A upstream_gene_variant MELA-AU 11 35682805 35682805 single base substitution C T upstream_gene_variant MELA-AU 11 35683421 35683421 single base substitution C T upstream_gene_variant MELA-AU 11 35683515 35683515 single base substitution G A upstream_gene_variant MELA-AU 11 35683522 35683522 single base substitution G A upstream_gene_variant MELA-AU 11 35683918 35683918 single base substitution C T upstream_gene_variant MELA-AU 11 35685280 35685280 single base substitution C T synonymous_variant H207H 621C>T MELA-AU 11 35685426 35685426 single base substitution C T intron_variant MELA-AU 11 35687099 35687099 single base substitution T C intron_variant MELA-AU 11 35687649 35687649 single base substitution C T intron_variant MELA-AU 11 35687659 35687659 single base substitution C T intron_variant MELA-AU 11 35687660 35687660 single base substitution C T intron_variant MELA-AU 11 35687706 35687706 single base substitution C T intron_variant MELA-AU 11 35687814 35687814 single base substitution C T intron_variant MELA-AU 11 35688104 35688104 single base substitution C T intron_variant MELA-AU 11 35688507 35688507 single base substitution T A intron_variant MELA-AU 11 35688510 35688510 single base substitution C T intron_variant MELA-AU 11 35689605 35689605 single base substitution C T intron_variant MELA-AU 11 35689867 35689867 single base substitution T C intron_variant MELA-AU 11 35690099 35690099 single base substitution C T intron_variant MELA-AU 11 35690260 35690260 single base substitution C T intron_variant MELA-AU 11 35690354 35690354 single base substitution C T intron_variant MELA-AU 11 35690480 35690480 single base substitution C T intron_variant MELA-AU 11 35690844 35690844 single base substitution T C intron_variant MELA-AU 11 35690867 35690867 single base substitution C T intron_variant MELA-AU 11 35691047 35691047 single base substitution A G intron_variant MELA-AU 11 35691146 35691146 single base substitution C T intron_variant MELA-AU 11 35691464 35691464 single base substitution G A intron_variant MELA-AU 11 35692454 35692454 single base substitution C T intron_variant MELA-AU 11 35692600 35692600 single base substitution C T intron_variant MELA-AU 11 35693661 35693661 single base substitution T C intron_variant MELA-AU 11 35693775 35693775 single base substitution A T intron_variant MELA-AU 11 35695196 35695196 single base substitution C T intron_variant MELA-AU 11 35695681 35695681 single base substitution C T intron_variant MELA-AU 11 35695963 35695963 single base substitution C T intron_variant MELA-AU 11 35696845 35696845 single base substitution C T intron_variant MELA-AU 11 35697113 35697113 single base substitution C T intron_variant MELA-AU 11 35697174 35697174 single base substitution A G intron_variant MELA-AU 11 35699899 35699899 single base substitution G C intron_variant MELA-AU 11 35700280 35700280 single base substitution C T intron_variant MELA-AU 11 35700306 35700306 single base substitution C T intron_variant MELA-AU 11 35700390 35700390 single base substitution C T intron_variant MELA-AU 11 35701608 35701608 single base substitution C T intron_variant MELA-AU 11 35702512 35702512 single base substitution C T intron_variant MELA-AU 11 35703537 35703537 single base substitution C T intron_variant MELA-AU 11 35704451 35704451 single base substitution C T intron_variant MELA-AU 11 35704674 35704674 single base substitution C T intron_variant MELA-AU 11 35704981 35704981 single base substitution C T intron_variant MELA-AU 11 35705220 35705220 single base substitution C T intron_variant MELA-AU 11 35707334 35707334 single base substitution C T intron_variant MELA-AU 11 35707933 35707933 single base substitution T C intron_variant MELA-AU 11 35709046 35709046 single base substitution T C intron_variant MELA-AU 11 35709706 35709706 single base substitution C T intron_variant MELA-AU 11 35709883 35709883 single base substitution C T intron_variant MELA-AU 11 35710120 35710120 single base substitution C T intron_variant MELA-AU 11 35710160 35710160 single base substitution A T intron_variant MELA-AU 11 35710471 35710471 single base substitution C T intron_variant MELA-AU 11 35711983 35711983 single base substitution G A intron_variant MELA-AU 11 35712051 35712051 single base substitution C T intron_variant MELA-AU 11 35712832 35712832 single base substitution C T intron_variant MELA-AU 11 35713671 35713671 single base substitution G A intron_variant MELA-AU 11 35713911 35713911 single base substitution T A intron_variant MELA-AU 11 35714108 35714108 single base substitution G A intron_variant MELA-AU 11 35714361 35714361 single base substitution C T intron_variant MELA-AU 11 35714685 35714686 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 11 35714811 35714811 single base substitution C T intron_variant MELA-AU 11 35715213 35715213 single base substitution T A intron_variant MELA-AU 11 35715374 35715374 single base substitution G A intron_variant MELA-AU 11 35716698 35716698 single base substitution A G intron_variant MELA-AU 11 35716700 35716700 single base substitution T A intron_variant MELA-AU 11 35717544 35717544 single base substitution G A intron_variant MELA-AU 11 35717782 35717782 single base substitution C T intron_variant MELA-AU 11 35718136 35718136 single base substitution C T intron_variant MELA-AU 11 35718162 35718162 single base substitution C T intron_variant MELA-AU 11 35718198 35718198 single base substitution C T intron_variant MELA-AU 11 35718221 35718221 single base substitution C T intron_variant MELA-AU 11 35718916 35718916 single base substitution C T intron_variant MELA-AU 11 35720827 35720827 single base substitution G C intron_variant MELA-AU 11 35721118 35721118 single base substitution C T intron_variant MELA-AU 11 35721234 35721234 single base substitution T G intron_variant MELA-AU 11 35721459 35721459 single base substitution C T intron_variant MELA-AU 11 35721849 35721849 single base substitution G A intron_variant MELA-AU 11 35721942 35721942 single base substitution C T intron_variant MELA-AU 11 35722107 35722107 single base substitution C T intron_variant MELA-AU 11 35722112 35722112 single base substitution C T intron_variant MELA-AU 11 35722180 35722180 single base substitution C T intron_variant MELA-AU 11 35722237 35722237 single base substitution C T intron_variant MELA-AU 11 35722814 35722814 single base substitution T A intron_variant MELA-AU 11 35722852 35722852 single base substitution C T intron_variant MELA-AU 11 35723171 35723171 single base substitution G A intron_variant MELA-AU 11 35723551 35723551 single base substitution C T intron_variant MELA-AU 11 35723572 35723573 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 35723837 35723837 single base substitution C T intron_variant MELA-AU 11 35723881 35723881 single base substitution C T intron_variant MELA-AU 11 35723884 35723884 single base substitution C T intron_variant MELA-AU 11 35724268 35724268 single base substitution C T intron_variant MELA-AU 11 35724596 35724596 single base substitution C T intron_variant MELA-AU 11 35724926 35724926 single base substitution C T intron_variant MELA-AU 11 35725405 35725405 single base substitution C T intron_variant MELA-AU 11 35727745 35727745 single base substitution C T intron_variant MELA-AU 11 35728044 35728044 single base substitution C T intron_variant MELA-AU 11 35730540 35730540 single base substitution C A intron_variant MELA-AU 11 35732041 35732042 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 35733158 35733158 single base substitution G C intron_variant MELA-AU 11 35733672 35733672 single base substitution A C intron_variant MELA-AU 11 35733982 35733982 single base substitution C T intron_variant MELA-AU 11 35734370 35734371 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 35736743 35736743 single base substitution C T intron_variant MELA-AU 11 35737768 35737768 single base substitution G A intron_variant MELA-AU 11 35738055 35738055 single base substitution G T intron_variant MELA-AU 11 35738174 35738174 single base substitution C T intron_variant MELA-AU 11 35738395 35738395 single base substitution C T intron_variant MELA-AU 11 35738699 35738699 single base substitution C T intron_variant MELA-AU 11 35738902 35738902 single base substitution G A intron_variant MELA-AU 11 35739151 35739151 single base substitution C T intron_variant MELA-AU 11 35740588 35740588 single base substitution A T intron_variant MELA-AU 11 35740905 35740905 single base substitution T C intron_variant MELA-AU 11 35740905 35740905 single base substitution T C upstream_gene_variant MELA-AU 11 35741770 35741770 single base substitution C T intron_variant MELA-AU 11 35741770 35741770 single base substitution C T upstream_gene_variant MELA-AU 11 35741868 35741868 single base substitution C T intron_variant MELA-AU 11 35741868 35741868 single base substitution C T upstream_gene_variant MELA-AU 11 35743679 35743679 single base substitution C T intron_variant MELA-AU 11 35743679 35743679 single base substitution C T upstream_gene_variant MELA-AU 11 35743819 35743819 single base substitution T C intron_variant MELA-AU 11 35743819 35743819 single base substitution T C upstream_gene_variant MELA-AU 11 35743945 35743945 single base substitution C T intron_variant MELA-AU 11 35743945 35743945 single base substitution C T upstream_gene_variant MELA-AU 11 35744774 35744774 single base substitution C T intron_variant MELA-AU 11 35744774 35744774 single base substitution C T upstream_gene_variant MELA-AU 11 35745076 35745076 single base substitution T A intron_variant MELA-AU 11 35745076 35745076 single base substitution T A upstream_gene_variant MELA-AU 11 35745085 35745085 single base substitution C T intron_variant MELA-AU 11 35745085 35745085 single base substitution C T upstream_gene_variant MELA-AU 11 35745183 35745183 single base substitution C T intron_variant MELA-AU 11 35745183 35745183 single base substitution C T upstream_gene_variant MELA-AU 11 35746106 35746106 single base substitution C T intron_variant MELA-AU 11 35746192 35746192 single base substitution T A intron_variant MELA-AU 11 35746206 35746206 single base substitution C T intron_variant MELA-AU 11 35746213 35746213 single base substitution T C intron_variant MELA-AU 11 35747065 35747065 single base substitution G A intron_variant MELA-AU 11 35747574 35747574 single base substitution C T exon_variant MELA-AU 11 35747574 35747574 single base substitution C T stop_gained Q284* 850C>T MELA-AU 11 35747718 35747718 single base substitution G A splice_region_variant MELA-AU 11 35747756 35747756 single base substitution G A intron_variant MELA-AU 11 35748630 35748630 single base substitution C T intron_variant MELA-AU 11 35748824 35748824 single base substitution C T intron_variant MELA-AU 11 35749796 35749796 single base substitution C T intron_variant MELA-AU 11 35749994 35749994 single base substitution G A intron_variant MELA-AU 11 35750026 35750026 single base substitution G A intron_variant MELA-AU 11 35750051 35750051 single base substitution G A intron_variant MELA-AU 11 35750239 35750239 single base substitution C T intron_variant MELA-AU 11 35750957 35750957 single base substitution C T intron_variant MELA-AU 11 35751439 35751439 single base substitution C T intron_variant MELA-AU 11 35751600 35751600 single base substitution G C intron_variant MELA-AU 11 35751957 35751957 single base substitution C T intron_variant MELA-AU 11 35752247 35752247 single base substitution T C intron_variant MELA-AU 11 35753297 35753297 single base substitution T C intron_variant MELA-AU 11 35753422 35753422 single base substitution C T intron_variant MELA-AU 11 35753523 35753523 single base substitution C T intron_variant MELA-AU 11 35754166 35754166 single base substitution C T intron_variant MELA-AU 11 35754217 35754218 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 35754861 35754861 single base substitution G T intron_variant MELA-AU 11 35755085 35755085 single base substitution C T intron_variant MELA-AU 11 35755119 35755119 single base substitution C T intron_variant MELA-AU 11 35755555 35755555 single base substitution T C intron_variant MELA-AU 11 35755654 35755654 single base substitution C T intron_variant MELA-AU 11 35755736 35755736 insertion of <=200bp - AT intron_variant MELA-AU 11 35756602 35756602 single base substitution G A intron_variant MELA-AU 11 35758109 35758109 single base substitution C T intron_variant MELA-AU 11 35758165 35758165 single base substitution C T intron_variant MELA-AU 11 35758482 35758482 single base substitution C T intron_variant MELA-AU 11 35759379 35759379 single base substitution C T intron_variant MELA-AU 11 35759419 35759419 single base substitution C T intron_variant MELA-AU 11 35760372 35760372 single base substitution C T intron_variant MELA-AU 11 35760423 35760423 single base substitution C T intron_variant MELA-AU 11 35760441 35760441 single base substitution C T intron_variant MELA-AU 11 35760579 35760580 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 35761576 35761576 single base substitution G A intron_variant MELA-AU 11 35761919 35761919 single base substitution A T intron_variant MELA-AU 11 35761962 35761962 single base substitution G A intron_variant MELA-AU 11 35762431 35762431 single base substitution C T intron_variant MELA-AU 11 35762898 35762898 single base substitution C T intron_variant MELA-AU 11 35763367 35763367 single base substitution C T intron_variant MELA-AU 11 35764926 35764926 single base substitution C T intron_variant MELA-AU 11 35764982 35764982 single base substitution C T intron_variant MELA-AU 11 35765077 35765077 single base substitution T C intron_variant MELA-AU 11 35765410 35765410 single base substitution C T intron_variant MELA-AU 11 35766040 35766040 single base substitution A G intron_variant MELA-AU 11 35766327 35766327 single base substitution T C intron_variant MELA-AU 11 35767376 35767376 single base substitution A T intron_variant MELA-AU 11 35767611 35767611 single base substitution T G intron_variant MELA-AU 11 35770398 35770398 single base substitution C T intron_variant MELA-AU 11 35770505 35770505 single base substitution C T intron_variant MELA-AU 11 35771245 35771245 single base substitution G A intron_variant MELA-AU 11 35772913 35772913 single base substitution C T intron_variant MELA-AU 11 35773636 35773636 single base substitution C T intron_variant MELA-AU 11 35774056 35774056 single base substitution C T intron_variant MELA-AU 11 35774207 35774207 single base substitution C T intron_variant MELA-AU 11 35774322 35774322 single base substitution C T intron_variant MELA-AU 11 35774627 35774627 single base substitution G A intron_variant MELA-AU 11 35774967 35774968 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 11 35775704 35775704 single base substitution G A intron_variant MELA-AU 11 35775984 35775984 single base substitution T C intron_variant MELA-AU 11 35776280 35776281 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 35776791 35776791 single base substitution C T intron_variant MELA-AU 11 35777139 35777139 single base substitution C T intron_variant MELA-AU 11 35777671 35777671 single base substitution C T intron_variant MELA-AU 11 35778053 35778053 single base substitution C T intron_variant MELA-AU 11 35778536 35778536 single base substitution C T intron_variant MELA-AU 11 35778591 35778591 single base substitution C T intron_variant MELA-AU 11 35778988 35778988 single base substitution C T intron_variant MELA-AU 11 35779048 35779048 single base substitution C T intron_variant MELA-AU 11 35779064 35779064 single base substitution T G intron_variant MELA-AU 11 35779123 35779123 single base substitution T A intron_variant MELA-AU 11 35779177 35779177 single base substitution G A intron_variant MELA-AU 11 35779296 35779296 single base substitution C T intron_variant MELA-AU 11 35779459 35779459 single base substitution A T intron_variant MELA-AU 11 35779583 35779583 single base substitution T C intron_variant MELA-AU 11 35780215 35780215 single base substitution C T intron_variant MELA-AU 11 35780347 35780347 single base substitution C T intron_variant MELA-AU 11 35780785 35780785 single base substitution C T intron_variant MELA-AU 11 35781078 35781078 single base substitution C T intron_variant MELA-AU 11 35781396 35781396 single base substitution C T intron_variant MELA-AU 11 35781666 35781666 single base substitution C T intron_variant MELA-AU 11 35781830 35781831 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 35781946 35781946 single base substitution C T intron_variant MELA-AU 11 35783832 35783832 single base substitution C T intron_variant MELA-AU 11 35784402 35784402 single base substitution C A intron_variant MELA-AU 11 35784502 35784502 single base substitution A C intron_variant MELA-AU 11 35784741 35784741 single base substitution C T intron_variant MELA-AU 11 35785128 35785128 single base substitution C T intron_variant MELA-AU 11 35785177 35785177 single base substitution C T intron_variant MELA-AU 11 35785549 35785549 single base substitution C T intron_variant MELA-AU 11 35785581 35785581 single base substitution C T intron_variant MELA-AU 11 35785922 35785922 single base substitution C T intron_variant MELA-AU 11 35785938 35785938 single base substitution C T intron_variant MELA-AU 11 35786193 35786193 single base substitution C T intron_variant MELA-AU 11 35786199 35786199 single base substitution C T intron_variant MELA-AU 11 35786504 35786504 single base substitution C T intron_variant MELA-AU 11 35787017 35787017 single base substitution G T intron_variant MELA-AU 11 35787252 35787274 deletion of <=200bp CTGAGGCAGCCATAATTTGAAGC - intron_variant MELA-AU 11 35787398 35787398 single base substitution C T intron_variant MELA-AU 11 35788366 35788366 single base substitution C T intron_variant MELA-AU 11 35788645 35788645 single base substitution C T intron_variant MELA-AU 11 35788980 35788980 single base substitution C T intron_variant MELA-AU 11 35790498 35790498 single base substitution C T intron_variant MELA-AU 11 35790878 35790878 single base substitution C T intron_variant MELA-AU 11 35791426 35791427 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 35791615 35791615 single base substitution C T intron_variant MELA-AU 11 35792294 35792294 single base substitution A G intron_variant MELA-AU 11 35792961 35792961 single base substitution T G intron_variant MELA-AU 11 35793188 35793188 single base substitution C T intron_variant MELA-AU 11 35793520 35793520 single base substitution G A intron_variant MELA-AU 11 35793860 35793860 single base substitution C T intron_variant MELA-AU 11 35794076 35794076 single base substitution C T intron_variant MELA-AU 11 35794178 35794178 single base substitution G A intron_variant MELA-AU 11 35794835 35794835 deletion of <=200bp A - intron_variant MELA-AU 11 35795315 35795315 single base substitution C T intron_variant MELA-AU 11 35795443 35795443 single base substitution C T intron_variant MELA-AU 11 35795520 35795520 single base substitution C T intron_variant MELA-AU 11 35795953 35795953 single base substitution C T intron_variant MELA-AU 11 35795966 35795966 single base substitution T C intron_variant MELA-AU 11 35796569 35796569 single base substitution T C intron_variant MELA-AU 11 35796641 35796641 single base substitution T C intron_variant MELA-AU 11 35797692 35797692 single base substitution C T intron_variant MELA-AU 11 35798006 35798006 single base substitution C T intron_variant MELA-AU 11 35798478 35798478 single base substitution C T intron_variant MELA-AU 11 35798615 35798615 single base substitution C T intron_variant MELA-AU 11 35798866 35798866 single base substitution C T intron_variant MELA-AU 11 35799295 35799295 single base substitution T C intron_variant MELA-AU 11 35799372 35799372 single base substitution C T intron_variant MELA-AU 11 35799615 35799615 single base substitution C T intron_variant MELA-AU 11 35799853 35799853 single base substitution C T intron_variant MELA-AU 11 35799946 35799946 single base substitution C T intron_variant MELA-AU 11 35800240 35800240 single base substitution C T intron_variant MELA-AU 11 35800885 35800885 single base substitution C T intron_variant MELA-AU 11 35800924 35800924 single base substitution C T intron_variant MELA-AU 11 35801486 35801486 single base substitution G A intron_variant MELA-AU 11 35801634 35801634 single base substitution C T intron_variant MELA-AU 11 35801951 35801951 single base substitution C T intron_variant MELA-AU 11 35802872 35802872 single base substitution T A intron_variant MELA-AU 11 35803191 35803191 single base substitution C T intron_variant MELA-AU 11 35803785 35803785 single base substitution C T intron_variant MELA-AU 11 35804683 35804683 single base substitution C T intron_variant MELA-AU 11 35804803 35804803 single base substitution C T intron_variant MELA-AU 11 35805003 35805003 single base substitution C T intron_variant MELA-AU 11 35805297 35805297 single base substitution G A intron_variant MELA-AU 11 35805493 35805493 single base substitution G T intron_variant MELA-AU 11 35805654 35805654 single base substitution T C intron_variant MELA-AU 11 35805727 35805727 single base substitution A C intron_variant MELA-AU 11 35805896 35805896 single base substitution C T intron_variant MELA-AU 11 35806795 35806796 multiple base substitution (>=2bp and <=200bp) CA GC intron_variant MELA-AU 11 35807111 35807111 single base substitution C T intron_variant MELA-AU 11 35808441 35808441 single base substitution G A intron_variant MELA-AU 11 35809043 35809043 single base substitution C T intron_variant MELA-AU 11 35809658 35809658 single base substitution C T intron_variant MELA-AU 11 35810253 35810253 single base substitution C T intron_variant MELA-AU 11 35811612 35811612 single base substitution C T intron_variant MELA-AU 11 35811704 35811704 single base substitution A T intron_variant MELA-AU 11 35811706 35811706 single base substitution C T intron_variant MELA-AU 11 35811761 35811761 single base substitution T G intron_variant MELA-AU 11 35812253 35812253 single base substitution C T intron_variant MELA-AU 11 35812375 35812375 single base substitution C T intron_variant MELA-AU 11 35814700 35814700 single base substitution G A intron_variant MELA-AU 11 35814748 35814748 single base substitution G A intron_variant MELA-AU 11 35814903 35814903 single base substitution C G intron_variant MELA-AU 11 35814982 35814982 single base substitution G A intron_variant MELA-AU 11 35815580 35815580 single base substitution T A intron_variant MELA-AU 11 35815711 35815711 single base substitution C T intron_variant MELA-AU 11 35817759 35817760 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 11 35818015 35818015 single base substitution G A intron_variant MELA-AU 11 35818591 35818591 single base substitution C T intron_variant MELA-AU 11 35819792 35819792 single base substitution G T intron_variant MELA-AU 11 35820122 35820122 single base substitution G A intron_variant MELA-AU 11 35821931 35821932 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 35822004 35822004 single base substitution C T intron_variant MELA-AU 11 35824111 35824111 single base substitution C T intron_variant MELA-AU 11 35824232 35824232 single base substitution C T intron_variant MELA-AU 11 35824886 35824886 single base substitution G A intron_variant MELA-AU 11 35825459 35825459 single base substitution C T intron_variant MELA-AU 11 35827899 35827899 single base substitution C T intron_variant MELA-AU 11 35828245 35828245 single base substitution C T 3_prime_UTR_variant MELA-AU 11 35828245 35828245 single base substitution C T downstream_gene_variant MELA-AU 11 35828628 35828628 single base substitution G A 3_prime_UTR_variant MELA-AU 11 35828628 35828628 single base substitution G A downstream_gene_variant MELA-AU 11 35828690 35828690 single base substitution C T 3_prime_UTR_variant MELA-AU 11 35828690 35828690 single base substitution C T downstream_gene_variant MELA-AU 11 35831213 35831213 single base substitution T A downstream_gene_variant MELA-AU 11 35831583 35831583 single base substitution C T downstream_gene_variant MELA-AU 11 35831604 35831604 single base substitution C T downstream_gene_variant MELA-AU 11 35831657 35831657 single base substitution C G downstream_gene_variant MELA-AU 11 35832410 35832410 single base substitution T C downstream_gene_variant MELA-AU 11 35832742 35832742 single base substitution C T downstream_gene_variant MELA-AU 11 35833329 35833329 single base substitution C T downstream_gene_variant MELA-AU 11 35833368 35833368 single base substitution C G downstream_gene_variant MELA-AU 11 35833621 35833621 single base substitution C T downstream_gene_variant MELA-AU 11 35833755 35833755 single base substitution C T downstream_gene_variant ORCA-IN 11 35741544 35741544 single base substitution C T intron_variant ORCA-IN 11 35741544 35741544 single base substitution C T upstream_gene_variant ORCA-IN 11 35746620 35746620 single base substitution A T intron_variant ORCA-IN 11 35748541 35748541 single base substitution C G intron_variant ORCA-IN 11 35765047 35765047 single base substitution G C intron_variant ORCA-IN 11 35770687 35770687 single base substitution G A intron_variant ORCA-IN 11 35780871 35780871 single base substitution G A intron_variant ORCA-IN 11 35795806 35795806 single base substitution G A intron_variant ORCA-IN 11 35810222 35810222 single base substitution G A intron_variant OV-AU 11 35689730 35689730 single base substitution C G intron_variant OV-AU 11 35715177 35715177 single base substitution A G intron_variant OV-AU 11 35731365 35731365 single base substitution T C intron_variant OV-AU 11 35731802 35731802 single base substitution G T intron_variant OV-AU 11 35732566 35732566 single base substitution A G intron_variant OV-AU 11 35733495 35733495 single base substitution C T intron_variant OV-AU 11 35737250 35737250 single base substitution A T intron_variant OV-AU 11 35740850 35740850 single base substitution T C intron_variant OV-AU 11 35740850 35740850 single base substitution T C upstream_gene_variant OV-AU 11 35745274 35745274 single base substitution G C intron_variant OV-AU 11 35745274 35745274 single base substitution G C upstream_gene_variant OV-AU 11 35748619 35748619 single base substitution T A intron_variant OV-AU 11 35749892 35749892 single base substitution T C intron_variant OV-AU 11 35750706 35750706 single base substitution T A intron_variant OV-AU 11 35757151 35757151 single base substitution C T intron_variant OV-AU 11 35757891 35757891 single base substitution A G intron_variant OV-AU 11 35771539 35771539 single base substitution C T intron_variant OV-AU 11 35778181 35778181 single base substitution G T intron_variant OV-AU 11 35781233 35781233 single base substitution A C intron_variant OV-AU 11 35789761 35789761 single base substitution A C intron_variant OV-AU 11 35797905 35797905 single base substitution G A intron_variant OV-AU 11 35804527 35804527 single base substitution A G intron_variant OV-AU 11 35805434 35805434 single base substitution G A intron_variant OV-AU 11 35807565 35807565 single base substitution G C intron_variant OV-AU 11 35823173 35823173 single base substitution A G intron_variant OV-AU 11 35823373 35823373 single base substitution C T intron_variant OV-AU 11 35829007 35829007 single base substitution G A 3_prime_UTR_variant OV-AU 11 35829007 35829007 single base substitution G A downstream_gene_variant OV-AU 11 35830237 35830237 single base substitution C T downstream_gene_variant PACA-AU 11 35680023 35680023 single base substitution A G upstream_gene_variant PACA-AU 11 35682060 35682060 single base substitution G A upstream_gene_variant PACA-AU 11 35684518 35684518 single base substitution T G 5_prime_UTR_variant PACA-AU 11 35686173 35686173 single base substitution T A intron_variant PACA-AU 11 35687631 35687631 single base substitution G A intron_variant PACA-AU 11 35700227 35700227 single base substitution G A intron_variant PACA-AU 11 35700948 35700948 deletion of <=200bp A - intron_variant PACA-AU 11 35709929 35709929 deletion of <=200bp T - intron_variant PACA-AU 11 35711858 35711858 single base substitution C G intron_variant PACA-AU 11 35713958 35713958 single base substitution A C intron_variant PACA-AU 11 35715953 35715953 single base substitution C T intron_variant PACA-AU 11 35717911 35717911 single base substitution C T intron_variant PACA-AU 11 35720836 35720836 single base substitution C G intron_variant PACA-AU 11 35721270 35721270 single base substitution A G intron_variant PACA-AU 11 35730191 35730191 single base substitution C T intron_variant PACA-AU 11 35731802 35731802 single base substitution G T intron_variant PACA-AU 11 35733004 35733004 single base substitution C A intron_variant PACA-AU 11 35736901 35736901 single base substitution T C intron_variant PACA-AU 11 35737877 35737877 single base substitution G A intron_variant PACA-AU 11 35744014 35744014 single base substitution A T intron_variant PACA-AU 11 35744014 35744014 single base substitution A T upstream_gene_variant PACA-AU 11 35746612 35746612 single base substitution A T intron_variant PACA-AU 11 35750082 35750082 single base substitution G A intron_variant PACA-AU 11 35751595 35751595 single base substitution G A intron_variant PACA-AU 11 35754614 35754614 single base substitution G A intron_variant PACA-AU 11 35758192 35758192 single base substitution T C intron_variant PACA-AU 11 35766865 35766865 single base substitution A T intron_variant PACA-AU 11 35769711 35769711 single base substitution A G intron_variant PACA-AU 11 35770970 35770970 single base substitution C G intron_variant PACA-AU 11 35772525 35772525 single base substitution A T intron_variant PACA-AU 11 35778672 35778672 single base substitution A C intron_variant PACA-AU 11 35779370 35779370 single base substitution T C intron_variant PACA-AU 11 35779442 35779442 single base substitution T C intron_variant PACA-AU 11 35781257 35781257 single base substitution C T intron_variant PACA-AU 11 35782937 35782937 insertion of <=200bp - CT intron_variant PACA-AU 11 35786476 35786476 single base substitution A T intron_variant PACA-AU 11 35787778 35787778 single base substitution G C intron_variant PACA-AU 11 35790077 35790097 deletion of <=200bp GGATCCCTGAAGGATTCAAGG - intron_variant PACA-AU 11 35790169 35790169 single base substitution T C intron_variant PACA-AU 11 35793193 35793193 single base substitution G T intron_variant PACA-AU 11 35793514 35793514 single base substitution G A intron_variant PACA-AU 11 35797781 35797781 single base substitution T G intron_variant PACA-AU 11 35801561 35801561 single base substitution T G intron_variant PACA-AU 11 35807749 35807749 single base substitution T G intron_variant PACA-AU 11 35809408 35809408 single base substitution A G intron_variant PACA-AU 11 35820131 35820131 single base substitution G A intron_variant PACA-AU 11 35821272 35821272 single base substitution G A intron_variant PACA-AU 11 35831784 35831784 single base substitution T G downstream_gene_variant PACA-AU 11 35833015 35833015 single base substitution A T downstream_gene_variant PACA-CA 11 35683925 35683925 single base substitution C T upstream_gene_variant PACA-CA 11 35686019 35686019 single base substitution T A intron_variant PACA-CA 11 35689912 35689912 single base substitution C T intron_variant PACA-CA 11 35692617 35692617 single base substitution C T intron_variant PACA-CA 11 35695495 35695495 single base substitution G A intron_variant PACA-CA 11 35695802 35695802 single base substitution A G intron_variant PACA-CA 11 35699928 35699928 insertion of <=200bp - T intron_variant PACA-CA 11 35702318 35702318 single base substitution C T intron_variant PACA-CA 11 35704138 35704138 single base substitution A G intron_variant PACA-CA 11 35705952 35705952 single base substitution T C intron_variant PACA-CA 11 35707878 35707878 single base substitution C T intron_variant PACA-CA 11 35716895 35716895 single base substitution A C intron_variant PACA-CA 11 35718020 35718023 deletion of <=200bp ACTC - intron_variant PACA-CA 11 35721756 35721756 single base substitution T G intron_variant PACA-CA 11 35724785 35724785 single base substitution G A intron_variant PACA-CA 11 35731380 35731380 single base substitution G A intron_variant PACA-CA 11 35731406 35731406 single base substitution C G intron_variant PACA-CA 11 35735647 35735647 single base substitution T C intron_variant PACA-CA 11 35736063 35736063 single base substitution C T intron_variant PACA-CA 11 35739910 35739910 single base substitution G C intron_variant PACA-CA 11 35741825 35741825 single base substitution T A intron_variant PACA-CA 11 35741825 35741825 single base substitution T A upstream_gene_variant PACA-CA 11 35742983 35742983 single base substitution T C intron_variant PACA-CA 11 35742983 35742983 single base substitution T C upstream_gene_variant PACA-CA 11 35743202 35743202 single base substitution T G intron_variant PACA-CA 11 35743202 35743202 single base substitution T G upstream_gene_variant PACA-CA 11 35744207 35744207 single base substitution G A intron_variant PACA-CA 11 35744207 35744207 single base substitution G A upstream_gene_variant PACA-CA 11 35744631 35744631 single base substitution G A intron_variant PACA-CA 11 35744631 35744631 single base substitution G A upstream_gene_variant PACA-CA 11 35746895 35746895 single base substitution G T intron_variant PACA-CA 11 35754176 35754176 single base substitution G A intron_variant PACA-CA 11 35754310 35754310 single base substitution T C intron_variant PACA-CA 11 35755693 35755693 single base substitution A G intron_variant PACA-CA 11 35756393 35756393 single base substitution C T intron_variant PACA-CA 11 35759522 35759522 single base substitution T G intron_variant PACA-CA 11 35766108 35766108 single base substitution A T intron_variant PACA-CA 11 35766753 35766753 single base substitution C T intron_variant PACA-CA 11 35767304 35767307 deletion of <=200bp CACT - intron_variant PACA-CA 11 35768379 35768379 single base substitution T C intron_variant PACA-CA 11 35773265 35773265 single base substitution G A intron_variant PACA-CA 11 35774751 35774751 insertion of <=200bp - G intron_variant PACA-CA 11 35776177 35776177 single base substitution A C intron_variant PACA-CA 11 35778630 35778630 single base substitution T C intron_variant PACA-CA 11 35779224 35779224 single base substitution C G intron_variant PACA-CA 11 35779787 35779787 single base substitution T A intron_variant PACA-CA 11 35780218 35780218 single base substitution C T intron_variant PACA-CA 11 35780368 35780368 single base substitution T A intron_variant PACA-CA 11 35780499 35780499 single base substitution C G intron_variant PACA-CA 11 35780553 35780553 single base substitution T G intron_variant PACA-CA 11 35781684 35781693 deletion of <=200bp TCCACCTAGT - intron_variant PACA-CA 11 35782951 35782951 insertion of <=200bp - TATA intron_variant PACA-CA 11 35783456 35783456 single base substitution C T intron_variant PACA-CA 11 35789981 35789981 single base substitution T C intron_variant PACA-CA 11 35791151 35791151 single base substitution T C intron_variant PACA-CA 11 35798456 35798456 single base substitution G A intron_variant PACA-CA 11 35798469 35798469 single base substitution A T intron_variant PACA-CA 11 35799089 35799089 single base substitution C T intron_variant PACA-CA 11 35800108 35800108 single base substitution G T intron_variant PACA-CA 11 35802103 35802103 single base substitution C T intron_variant PACA-CA 11 35810795 35810795 single base substitution G T intron_variant PACA-CA 11 35815456 35815456 single base substitution G A intron_variant PACA-CA 11 35815779 35815779 single base substitution A G intron_variant PACA-CA 11 35820031 35820031 single base substitution G T intron_variant PACA-CA 11 35820310 35820310 single base substitution A G intron_variant PACA-CA 11 35820684 35820684 single base substitution C A intron_variant PACA-CA 11 35822098 35822098 single base substitution G T intron_variant PACA-CA 11 35828615 35828615 deletion of <=200bp G - 3_prime_UTR_variant PACA-CA 11 35828615 35828615 deletion of <=200bp G - downstream_gene_variant PACA-CA 11 35828620 35828620 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 11 35828620 35828620 deletion of <=200bp A - downstream_gene_variant PACA-CA 11 35829371 35829371 single base substitution C T 3_prime_UTR_variant PACA-CA 11 35829371 35829371 single base substitution C T downstream_gene_variant PACA-CA 11 35830727 35830727 single base substitution A G downstream_gene_variant PACA-CA 11 35831475 35831475 single base substitution G C downstream_gene_variant PACA-CA 11 35831779 35831779 single base substitution C T downstream_gene_variant PACA-CA 11 35833683 35833683 single base substitution C G downstream_gene_variant PACA-CA 11 35834566 35834566 single base substitution A T downstream_gene_variant PAEN-AU 11 35698800 35698800 single base substitution C T intron_variant PAEN-AU 11 35714213 35714213 single base substitution C A intron_variant PAEN-AU 11 35729804 35729804 single base substitution C A intron_variant PAEN-AU 11 35827900 35827910 deletion of <=200bp CTTTGTAGTGG - splice_acceptor_variant PAEN-IT 11 35699235 35699235 single base substitution C A intron_variant PBCA-DE 11 35689312 35689312 single base substitution G A intron_variant PBCA-DE 11 35705782 35705782 single base substitution G A intron_variant PBCA-DE 11 35709780 35709780 single base substitution C G intron_variant PBCA-DE 11 35714283 35714283 insertion of <=200bp - T intron_variant PBCA-DE 11 35715694 35715694 single base substitution C A intron_variant PBCA-DE 11 35718459 35718459 single base substitution A G intron_variant PBCA-DE 11 35723620 35723620 single base substitution A T intron_variant PBCA-DE 11 35731802 35731802 single base substitution G T intron_variant PBCA-DE 11 35732830 35732830 single base substitution T C intron_variant PBCA-DE 11 35735282 35735282 single base substitution G A intron_variant PBCA-DE 11 35736953 35736954 deletion of <=200bp TG - intron_variant PBCA-DE 11 35740432 35740432 deletion of <=200bp T - intron_variant PBCA-DE 11 35746615 35746616 deletion of <=200bp CA - intron_variant PBCA-DE 11 35772787 35772787 single base substitution C G intron_variant PBCA-DE 11 35786476 35786476 insertion of <=200bp - A intron_variant PBCA-DE 11 35794827 35794827 insertion of <=200bp - T intron_variant PBCA-DE 11 35822953 35822954 deletion of <=200bp AT - intron_variant PBCA-DE 11 35829257 35829257 single base substitution C T 3_prime_UTR_variant PBCA-DE 11 35829257 35829257 single base substitution C T downstream_gene_variant PBCA-DE 11 35832492 35832492 single base substitution T G downstream_gene_variant PRAD-CA 11 35691007 35691007 single base substitution T G intron_variant PRAD-CA 11 35702005 35702005 single base substitution A T intron_variant PRAD-CA 11 35785726 35785726 single base substitution G A intron_variant PRAD-CA 11 35808956 35808956 single base substitution G A intron_variant PRAD-UK 11 35680476 35680476 single base substitution A G upstream_gene_variant PRAD-UK 11 35681437 35681437 single base substitution C T upstream_gene_variant PRAD-UK 11 35687460 35687460 deletion of <=200bp G - intron_variant PRAD-UK 11 35705584 35705584 single base substitution C A intron_variant PRAD-UK 11 35716395 35716395 single base substitution G A intron_variant PRAD-UK 11 35731832 35731832 single base substitution C G intron_variant PRAD-UK 11 35754395 35754395 single base substitution G A intron_variant PRAD-UK 11 35758071 35758071 single base substitution C A intron_variant PRAD-UK 11 35763382 35763382 single base substitution G C intron_variant PRAD-UK 11 35769955 35769955 single base substitution A G intron_variant PRAD-UK 11 35770847 35770847 single base substitution T G intron_variant PRAD-UK 11 35794610 35794610 single base substitution A G intron_variant READ-US 11 35684870 35684870 single base substitution G A missense_variant A71T 211G>A READ-US 11 35685320 35685320 single base substitution G T stop_gained E221* 661G>T RECA-EU 11 35688337 35688337 single base substitution T A intron_variant RECA-EU 11 35690230 35690230 single base substitution G A intron_variant RECA-EU 11 35690285 35690285 single base substitution G C intron_variant RECA-EU 11 35696669 35696669 single base substitution A G intron_variant RECA-EU 11 35705955 35705955 single base substitution G A intron_variant RECA-EU 11 35712937 35712937 single base substitution C A intron_variant RECA-EU 11 35716366 35716366 single base substitution A T intron_variant RECA-EU 11 35717685 35717685 single base substitution T A intron_variant RECA-EU 11 35737847 35737847 single base substitution G C intron_variant RECA-EU 11 35738011 35738011 single base substitution G T intron_variant RECA-EU 11 35744587 35744587 single base substitution A G intron_variant RECA-EU 11 35744587 35744587 single base substitution A G upstream_gene_variant RECA-EU 11 35754793 35754793 single base substitution T G intron_variant RECA-EU 11 35765573 35765573 single base substitution C T intron_variant RECA-EU 11 35766663 35766663 single base substitution T A intron_variant RECA-EU 11 35791692 35791692 single base substitution T C intron_variant RECA-EU 11 35809322 35809322 single base substitution G A intron_variant RECA-EU 11 35816925 35816925 single base substitution C G intron_variant RECA-EU 11 35819045 35819045 single base substitution A T intron_variant RECA-EU 11 35820548 35820548 single base substitution G C intron_variant RECA-EU 11 35830319 35830319 single base substitution G C downstream_gene_variant RECA-EU 11 35834316 35834316 single base substitution A G downstream_gene_variant SKCA-BR 11 35679589 35679589 single base substitution G A upstream_gene_variant SKCA-BR 11 35687130 35687132 deletion of <=200bp ATC - intron_variant SKCA-BR 11 35687134 35687135 deletion of <=200bp GT - intron_variant SKCA-BR 11 35691004 35691004 insertion of <=200bp - CTTTA intron_variant SKCA-BR 11 35693222 35693222 single base substitution C T intron_variant SKCA-BR 11 35699973 35699973 single base substitution G A intron_variant SKCA-BR 11 35700842 35700842 single base substitution A C intron_variant SKCA-BR 11 35707218 35707218 insertion of <=200bp - CT intron_variant SKCA-BR 11 35712787 35712787 single base substitution C T intron_variant SKCA-BR 11 35717935 35717935 single base substitution C T intron_variant SKCA-BR 11 35723457 35723463 deletion of <=200bp GCCAGAC - intron_variant SKCA-BR 11 35723489 35723489 single base substitution C A intron_variant SKCA-BR 11 35729112 35729112 single base substitution G T intron_variant SKCA-BR 11 35729116 35729116 single base substitution T C intron_variant SKCA-BR 11 35729120 35729120 single base substitution T C intron_variant SKCA-BR 11 35729123 35729123 single base substitution T A intron_variant SKCA-BR 11 35729134 35729134 single base substitution A C intron_variant SKCA-BR 11 35729138 35729138 single base substitution G A intron_variant SKCA-BR 11 35732885 35732885 single base substitution C T intron_variant SKCA-BR 11 35735193 35735193 single base substitution A T intron_variant SKCA-BR 11 35737722 35737722 single base substitution T C intron_variant SKCA-BR 11 35739597 35739597 single base substitution G A intron_variant SKCA-BR 11 35740478 35740478 single base substitution T G intron_variant SKCA-BR 11 35743870 35743870 single base substitution T C intron_variant SKCA-BR 11 35743870 35743870 single base substitution T C upstream_gene_variant SKCA-BR 11 35746614 35746614 insertion of <=200bp - TCA intron_variant SKCA-BR 11 35749183 35749183 single base substitution C T intron_variant SKCA-BR 11 35751856 35751856 single base substitution A T intron_variant SKCA-BR 11 35753022 35753022 single base substitution T A intron_variant SKCA-BR 11 35757599 35757599 single base substitution C T intron_variant SKCA-BR 11 35763145 35763145 single base substitution G A intron_variant SKCA-BR 11 35767453 35767453 single base substitution T C intron_variant SKCA-BR 11 35768445 35768445 single base substitution C T intron_variant SKCA-BR 11 35768512 35768512 single base substitution C T intron_variant SKCA-BR 11 35769350 35769350 single base substitution T G intron_variant SKCA-BR 11 35769426 35769426 single base substitution T G intron_variant SKCA-BR 11 35770504 35770504 single base substitution C T intron_variant SKCA-BR 11 35775565 35775565 single base substitution G A intron_variant SKCA-BR 11 35776203 35776203 single base substitution T C intron_variant SKCA-BR 11 35776557 35776557 single base substitution G A intron_variant SKCA-BR 11 35776558 35776558 single base substitution G A intron_variant SKCA-BR 11 35777312 35777312 single base substitution C T intron_variant SKCA-BR 11 35778093 35778093 single base substitution G C intron_variant SKCA-BR 11 35778094 35778094 single base substitution A T intron_variant SKCA-BR 11 35782450 35782450 single base substitution A C intron_variant SKCA-BR 11 35782949 35782949 insertion of <=200bp - CTA intron_variant SKCA-BR 11 35782951 35782951 insertion of <=200bp - CTA intron_variant SKCA-BR 11 35792300 35792300 single base substitution C T intron_variant SKCA-BR 11 35793280 35793281 deletion of <=200bp GA - intron_variant SKCA-BR 11 35793590 35793590 single base substitution G C intron_variant SKCA-BR 11 35793717 35793717 single base substitution G A intron_variant SKCA-BR 11 35794195 35794195 single base substitution G T intron_variant SKCA-BR 11 35798253 35798253 single base substitution C T intron_variant SKCA-BR 11 35798265 35798265 single base substitution A G intron_variant SKCA-BR 11 35798499 35798499 single base substitution T C intron_variant SKCA-BR 11 35799826 35799826 single base substitution T C intron_variant SKCA-BR 11 35799833 35799833 single base substitution C T intron_variant SKCA-BR 11 35801176 35801176 single base substitution C T intron_variant SKCA-BR 11 35801607 35801607 single base substitution C T intron_variant SKCA-BR 11 35813622 35813632 deletion of <=200bp TACACACACAC - intron_variant SKCA-BR 11 35813661 35813661 insertion of <=200bp - ACACACACACACACACTCTCT intron_variant SKCA-BR 11 35816418 35816418 single base substitution A G intron_variant SKCA-BR 11 35820650 35820650 single base substitution G A intron_variant SKCA-BR 11 35821682 35821682 single base substitution G A intron_variant SKCA-BR 11 35823818 35823818 single base substitution C T intron_variant SKCA-BR 11 35827958 35827958 single base substitution A G 3_prime_UTR_variant SKCA-BR 11 35827958 35827958 single base substitution A G exon_variant SKCA-BR 11 35828787 35828787 single base substitution A G 3_prime_UTR_variant SKCA-BR 11 35828787 35828787 single base substitution A G downstream_gene_variant SKCA-BR 11 35833497 35833497 single base substitution C T downstream_gene_variant SKCA-BR 11 35833498 35833498 single base substitution C T downstream_gene_variant SKCM-US 11 35685280 35685280 single base substitution C T synonymous_variant H207H 621C>T SKCM-US 11 35685316 35685316 single base substitution T C synonymous_variant F219F 657T>C SKCM-US 11 35747489 35747489 single base substitution G A exon_variant SKCM-US 11 35747489 35747489 single base substitution G A missense_variant M255I 765G>A SKCM-US 11 35747577 35747577 single base substitution G A exon_variant SKCM-US 11 35747577 35747577 single base substitution G A missense_variant E285K 853G>A SKCM-US 11 35747614 35747614 single base substitution C T exon_variant SKCM-US 11 35747614 35747614 single base substitution C T missense_variant A297V 890C>T STAD-US 11 35685113 35685113 single base substitution G A missense_variant E152K 454G>A STAD-US 11 35747662 35747662 single base substitution C T exon_variant STAD-US 11 35747662 35747662 single base substitution C T missense_variant A313V 938C>T UCEC-US 11 35684876 35684876 single base substitution G A missense_variant G73R 217G>A UCEC-US 11 35684884 35684884 single base substitution G A synonymous_variant G75G 225G>A UCEC-US 11 35684900 35684900 single base substitution G A missense_variant A81T 241G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 60T COSM110133 c.755G>T p.R252L Substitution - Missense 11:35725931-35725931 + TCGA-AP-A056-01 COSM926703 c.225G>A p.G75G Substitution - coding silent 11:35663336-35663336 + PD6684a COSM5800487 c.668G>T p.R223I Substitution - Missense 11:35663779-35663779 + TCGA-BR-6452-01 COSM4032593 c.938C>T p.A313V Substitution - Missense 11:35726114-35726114 + TCGA-24-2290-01 COSM133420 c.696_697CG>TT p.A233S Substitution - Missense 11:35685285-35685286 + YUKAT COSM5372409 c.482G>A p.S161N Substitution - Missense 11:35663593-35663593 + SNU-283 COSM1978111 c.457G>T p.A153S Substitution - Missense 11:35663568-35663568 + TCGA-22-5473-01 COSM687430 c.771G>A p.M257I Substitution - Missense 11:35725947-35725947 + TCGA-BR-4361-01 COSM1353689 c.454G>A p.E152K Substitution - Missense 11:35663565-35663565 + HCT116 COSM1978110 c.386G>T p.S129I Substitution - Missense 11:35663497-35663497 + S00935 COSM316151 c.952G>C p.D318H Substitution - Missense 11:35726128-35726128 + NB-1881 COSM1288622 c.869C>A p.A290D Substitution - Missense 11:35726045-35726045 + TCGA-A8-A0A6-01 COSM3809161 c.713T>G p.V238G Substitution - Missense 11:35685302-35685302 + TCGA-F5-6814-01 COSM3415829 c.211G>A p.A71T Substitution - Missense 11:35663322-35663322 + TCGA-F5-6814-01 COSM3415830 c.661G>T p.E221* Substitution - Nonsense 11:35663772-35663772 + TCGA-76-4931-01 COSM3397654 c.807G>A p.V269V Substitution - coding silent 11:35725983-35725983 + TCGA-EE-A2MH-06 COSM3447023 c.621C>T p.H207H Substitution - coding silent 11:35663732-35663732 + TCGA-G3-A25S-01 COSM4926845 c.84G>T p.G28G Substitution - coding silent 11:35663195-35663195 + TCGA-FS-A1ZC-06 COSM3447027 c.890C>T p.A297V Substitution - Missense 11:35726066-35726066 + TCGA-EE-A3JI-06 COSM3447025 c.765G>A p.M255I Substitution - Missense 11:35725941-35725941 + LUAD-RT-S01866 COSM385105 c.619C>A p.H207N Substitution - Missense 11:35663730-35663730 + GB07 COSM1744618 c.40C>G p.H14D Substitution - Missense 11:35663151-35663151 + EWS834 COSM4574344 c.927G>C p.Q309H Substitution - Missense 11:35726103-35726103 + TCGA-AA-A00J-01 COSM258240 c.991G>A p.D331N Substitution - Missense 11:35735429-35735429 + TCGA-AX-A05Z-01 COSM926704 c.241G>A p.A81T Substitution - Missense 11:35663352-35663352 + P09-1372 COSM247988 c.623A>G p.Q208R Substitution - Missense 11:35663734-35663734 + TCGA-AA-A024-01 COSM300556 c.226G>T p.A76S Substitution - Missense 11:35663337-35663337 + TCGA-EE-A29S-06 COSM3447024 c.657T>C p.F219F Substitution - coding silent 11:35663768-35663768 + TCGA-AP-A0LM-01 COSM926702 c.217G>A p.G73R Substitution - Missense 11:35663328-35663328 + TCGA-AG-3892-01 COSM258240 c.991G>A p.D331N Substitution - Missense 11:35735429-35735429 + HCC22T COSM1604515 c.357T>A p.D119E Substitution - Missense 11:35663468-35663468 + TCGA-29-1784-01 COSM1321696 c.516G>C p.E172D Substitution - Missense 11:35663627-35663627 + LUAD-E00934 COSM403332 c.139G>A p.A47T Substitution - Missense 11:35663250-35663250 + TCGA-CA-6717-01 COSM1353689 c.454G>A p.E152K Substitution - Missense 11:35663565-35663565 + cSCCP6 COSM136828 c.989G>A p.G330D Substitution - Missense 11:35735427-35735427 + YUKAT COSM5372408 c.75G>A p.E25E Substitution - coding silent 11:35663186-35663186 + ccRCC-52 COSM1664688 c.775A>T p.I259L Substitution - Missense 11:35725951-35725951 + CSCC-32-T COSM4495395 c.452C>T p.S151F Substitution - Missense 11:35663563-35663563 + CSCC-44-T COSM4469416 c.159C>T p.L53L Substitution - coding silent 11:35663270-35663270 + 3N06-VS-3T06 COSM4978833 c.294G>C p.E98D Substitution - Missense 11:35663405-35663405 + TCGA-DK-A1A3-01 COSM415612 c.28G>A p.E10K Substitution - Missense 11:35663139-35663139 + TCGA-EE-A29D-06 COSM3447026 c.853G>A p.E285K Substitution - Missense 11:35726029-35726029 + S00935 COSM316151 c.952G>C p.D318H Substitution - Missense 11:35726128-35726128 + TCGA-BK-A0C9-01 COSM926705 c.458C>T p.A153V Substitution - Missense 11:35663569-35663569 + PD5925a COSM5788390 c.793A>G p.K265E Substitution - Missense 11:35725969-35725969 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.192103 11p13 612298 2414513|CGAP|BC024031|C/T|non-coding||2613|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.R49W c.145A>T 11 35684804 CM C A Missense p.A290D c.869C>A 11 35747593 NB C G Missense p.I283M c.849C>G 11 35747573 LUAD CG TT Missense p.A233S c.696_697delinsTT 11 35706833 OV C T 3-UTRSNV . c.1032+1325C>T 11 35829257 MB C T IntronicSNV . c.1007+26677C>T 11 35783670 CLL C T Missense p.A297V c.890C>T 11 35747614 CM C T Synonymous p.H207H c.621C>T 11 35685280 CM G A IntronicSNV . c.1008-23134G>A 11 35804774 CLL G A Missense p.E10K c.28G>A 11 35684687 BLCA G A Missense p.E112K c.334G>A 11 35684993 STAD G A Missense p.M255I c.765G>A 11 35747489 CM G A Missense p.M257I c.771G>A 11 35747495 LUSC G A Synonymous p.V269V c.807G>A 11 35747531 GBM G C Missense p.D318H c.952G>C 11 35747676 SCLC G T Missense p.A76S c.226G>T 11 35684885 COREAD G T Missense p.V174L c.520G>T 11 35685179 LUAD G T Nonsense p.E325* c.973G>T 11 35747697 COREAD T C Synonymous p.F219F c.657T>C 11 35685316 CM TCTG - IntronicDeletion . c.669+1804_669+1807delCTGT 11 35687131 CLL